Past Exam Errors 1 Flashcards

Question

``` If the full immunisation schedule has been properly administered to a two-year-old, which one of the following gives the least effective protection? A. Diphtheria. B Haemophilus influenzae type b. C. Measles. D. Pertussis. E. Rubella. ```

Answer 1

D - Pertussis Pertussis vaccines are effective, but not perfect. They typically offer good levels of protection within the first 2 years after getting the vaccine, but then protection decreases over time. Public health experts call this 'waning immunity. ' Similarly, natural infection may also only protect you for a few years. ?Waning immunity quicker for pertussis than others. Receive additional DTP vax at 4 years ?due to waning.

Answer 2

C - prostacyclin The endothelium-dependent regulation of vascular tone is predominantly by four major players: nitric oxide (NO), prostaglandin I2 (PGI2 = prostacyclin), endothelium-derived hyperpolarizing factor (EDHF), and endothelin-1 (ET-1). In healthy vessels, the endothelium expresses constitutive forms of nitric oxide synthase (NOSIII) and cyclo-oxygenase (COX-1), which produce the vasoactive hormones NO and prostacyclin, respectively. Both NO and prostacyclin relax blood vessels and inhibit platelet activation. Angiotensin 2 = constriction Endothelin = contriction PGH2 = the common precursor for a number of biologically important prostanoids Thromboxane = produced in platelets, stimulates platelets and platelet aggregation

Answer 3

A - left atrial mean

Answer 4

D - inherited SNHL (all answers are of this variety anyway) Conductive hearing loss is caused by a mechanical problem of the outer or middle ear that interferes with conduction of sound to the inner ear. It can occur at any location from the outer ear (pinna, external auditory canal) to the stapes footplate and oval window. Examples include cerumen impaction, middle ear fluid, and ossicular chain fixation. Sensorineural hearing loss (SNHL) results from damage, disease, or other disorders affecting the inner ear (cochlea) and/or the auditory nerve. SNHL can be categorized as congenital (including both hereditary and nonhereditary causes) and acquired. Congenital infection caused by cytomegalovirus (CMV), toxoplasmosis, rubella, or syphilis is associated with SNHL. Hereditary (genetic) bilateral SNHL occurs in approximately 1 in 2000 births. In developed countries, it accounts for 50 to 60 percent of cases of SNHL in children. Approximately one-third are syndromic and two-thirds nonsyndromic. Approximately 80 percent of cases of HHL are inherited in an autosomal recessive pattern. Mutations in the GJB2 gene that encodes the protein connexin 26 (CX26) on chromosome 13 cause nearly one-half of all bilateral severe to profound congenital hearing loss in nonsyndromic children. The most common cause of mild to moderate nonsyndromic recessive hearing loss is mutation of the STRC gene. This gene encodes the protein stereocilin.

Answer 5

E - anti-Sm ``` Lupus: RASH OR PAIN Rash (malar A or discoid) Arthritis (nonerosive) Serositis Hematologic disorders (eg, cytopenias) Oral/nasopharyngeal ulcers Renal disease Photosensitivity Antinuclear antibodies Immunologic disorder (anti-dsDNA, anti-Sm, antiphospholipid) Neurologic disorders (eg, seizures, psychosis) ``` Most sensitive = ANA (basically 100%) Anti-dsDNA antibodies: Specific, poor prognosis (renal disease), useful for monitoring disease activity Anti-Smith antibodies: Specific, not prognostic (directed against snRNPs) Antihistone antibodies: Sensitive for drug-induced lupus (eg, hydralazine, procainamide)

Answer 6

E - sodium retention

Answer 7

D - macrophages

Answer 8

E - pulmonary sequestration. I think the key is the systemic blood supply, bronchogenic cyst is the only other answer with systemic blood supply (?can be either), and as below ?not demonstrable at birth. Uptodate: Bronchopulmonary sequestration (BPS), sometimes referred to simply as pulmonary sequestration, is a rare congenital abnormality of the lower airway. It consists of a nonfunctioning mass of lung tissue that lacks normal communication with the tracheobronchial tree and that receives its arterial blood supply from the systemic circulation. By definition, their arterial blood supply is from the systemic circulation. In contrast with BPS, CPAMs are connected to the tracheobronchial tree and are supplied from the pulmonary circulation. Bronchogenic cysts arise from anomalous budding of the foregut during development and represent part of the spectrum of bronchopulmonary foregut malformations. They can occur at any point throughout the tracheobronchial tree. Affected patients typically present during the second decade of life with recurrent coughing, wheezing (which may simulate asthma), and pneumonia. Congenital lobar emphysema (CLE), also known as congenital alveolar overdistension, is a developmental anomaly of the lower respiratory tract that is characterized by hyperinflation of one or more of the pulmonary lobes. The most frequently identified cause of CLE is obstruction of the developing airway, which occurs in 25 percent of cases. The left upper lobe is affected most often (40 to 50 percent of cases). Polyalveolar lobe gives rise to congenital lobar emphysema.

Answer 9

D - SCID. Key point here is you should have detectable lymphocytes at birth, not 0.1/1%/so low. Normal for IgM/IgA to be low/undetectable. Osmosis: Severe combined immunodeficiency is the most severe form of primary immunodeficiencies, and may results from an X-linked recessive defect in IL-2R gamma chain or an autosomal recessive defect in adenosine deaminase deficiency. This disorder results in B-cell and T-cell disorders, resulting in the failure to thrive, chronic diarrhea, thrush, and recurrent infections. IgG normal d/t maternal third trimester placental transfer. T cell count low/non existent. Expect low T cells, potentially normal B cells, but hypogammaglobulinaemia due to lack of T helper cells. T cell receptor excision circles (TREC) low (indicates T cell maturation -> low). IgA deficiency - most common primary immunodeficiency, isolated deficiency in IgA, mostly asymptomatic. MUST BE >4 YEARS OLD. X-linked agammaglobulinaemia - deficiency in all immunoglobulins due to failure of maturation of B cells (Bruton's tyrosine kinase mutation). T CELL MEDIATED IMMUNITY REMAINS IN TACT. Newborns typically asymptomatic. Kostmann's syndrome is a disease of the bone marrow where children are born without a type of white blood cell - neutrophil ( also called a granulocyte ) which are normally used to fight infection.

Answer 10

D - systemic juvenile chronic arthritis. ?Different diagnostic criteria as must be present for 6 weeks for juvenile idiopathic arthritis. ?Not sure any of the other answers would have splenomegaly... Juvenile idiopathic arthritis, also known as juvenile rheumatoid arthritis, is the most common form of arthritis in children and adolescents. It is an autoimmune, non-infective, inflammatory joint disease of more than 6 weeks duration in children less than 16 years of age. Systemic arthritis — Systemic arthritis (systemic JIA) defines the category of patients that were previously labeled Still's disease. Systemic arthritis is characterized by arthritis in one or more joints and fever of at least two weeks duration that is quotidian for at least three days. In addition, children must have one or more of the following findings: evanescent, erythematous rash; hepatomegaly or splenomegaly; lymph node enlargement; or serositis. Coxsackie virus - ?shouldn't cause such prolonged semiology. Kawasaki - right age (6mo-5yrs). Fever >5 days, 4/5 of bilat conjunctivitis, oral changes (strawberry tongue), rash, peripheral changes (hyperemia, painful oedema), lymphadenopathy classically (>1.5cm). Rheumatic fever: age 5-14, no clear URTI history, occurs 10d-6 weeks after URTI. Acute rheumatic fever manifests as a nonsuppurative inflammatory process affecting cardiac tissue (Figure 3), joints, subcutaneous tissue and the central nervous system. Major manifestations: Carditis (including subclinical evidence of rheumatic valve disease on echocardiogram) Polyarthritis or aseptic mono-arthritis or polyarthralgia Sydenham chorea Erythema marginatum Subcutaneous nodules SLE: Too young (rare <5-6, can exist but monogenic and less common, usually adolescent). Also doesn't sound right / doesn't meet criteria.

Answer 11

D - pulmonary artery banding. Key is unrestricted pulmonary outflow/evidence of CCF/high PBF. Park's: The purpose of the first-stage operation is to make patients acceptable candidates for bidirectional Glenn or hemi-Fontan operation. When there is no PS, pulmonary overcirculation can lead to pulmonary hypertension, which jeopardises future Fontan operation. In patients with no PS and large PBF with resulting CHF and pulmonary oedema, PA banding may be done (carries high mortality rate ~25%). PA banding is only performed when the BVF is normal or unobstructed. If PS or PA is present and oxygen saturation <85%, a BT shunt is necessary to improve cyanosis. Bidirectional Glenn at 3-6 months. Fontan at 18-24 months.

Answer 12

E - scheduled waking of the child at 10pm Uptodate: Parasomnias are episodic behaviors that intrude onto sleep and often lead to significant worry for the parents or the patient. The events are most common in preschool-aged children and gradually decrease in frequency over the first decade of life. - Sleep terrors – 40 percent (100% remission rate in one study) ●Sleepwalking – 15 percent ●Sleep enuresis – 25 percent ●Bruxism (teeth grinding) – 46 percent ●Rhythmic movement disorder (eg, head banging) – 9 percent ``` Sleep terrors (often called night terrors) typically occur between 4 and 12 years of age. The events occur during the first one-third of nocturnal sleep. The child awakens abruptly from sleep with a loud scream, is agitated, and has a flushed face, sweating, and tachycardia. The child may jump out of bed as if running away from an unseen threat and is usually unresponsive to parental efforts at calming. The child usually does not remember the episode later. A simultaneously obtained EEG may show high-amplitude rhythmic delta or theta activity. There is a strong genetic predisposition. ``` Infrequently occurring (one to two times per month) confusional arousals, sleep terrors, and sleepwalking do not need to be treated. Anticipatory awakening (scheduled awakening) is a behavioral technique that can be utilized to prevent these parasomnias. Anecdotally reported to have good effect. Although the efficacy of scheduled awakenings has not been well tested in clinical studies, the technique may be worth trying when the family is reluctant to administer medications and is inclined towards nonpharmacologic management. It has the potential drawback of actually triggering a parasomnia by the awakening procedure. If no specific underlying triggers are found and the parasomnias remain problematic, we suggest a low dose of a benzodiazepine.

Answer 13

B - attenuated spinal growth Medulloblastoma - a non-glial embryonal brain tumour, cerebella, only in posterior fossa. 20% of CNS paed tumours and most common malignant brain tumour. Endocrine morbidities are the most prominent disorder among the spectrum of long-term conditions, with growth hormone deficiency the most common endocrinopathy noted, either from tumor location or after cranial irradiation and treatment effects on the hypothalamic/pituitary unit. Disproportionate growth after craniospinal radiation therapy (CSRT) is well recognized with notable high risk for short adult height. Spinal irradiation most likely causes damage to the growth plates, as patients treated with spinal RT are consistently shorter than patients treated with cranial RT despite treatment with GH. Attenuated pubertal growth spurt - bone age is correct and arm span also seems to be growing as expected for puberty growth spurt, specifically spinal growth that seems affected. Familial short stature = the parents are short -> the child is short. Wouldn't expect dropping centiles, and should attain mid-parental height. Essentially just a variant of normal, but ya short. GH deficiency - Children with acquired GHD present with severe growth failure, delayed bone age, and increased weight:height ratios. Causes of acquired GHD include intracranial tumors involving the hypothalamic-pituitary region (eg, craniopharyngioma), cranial irradiation, and head trauma. Hypothyroidism - T4 normal. No other features.

Answer 14

E - furosemide I think the implication is that this is during the period of fluid overload, i.e. during the acute GN or the recovery phase, therefore given the issue is sodium and water retention (and often hyperkalaemia from AKI) it's appropriate to use furosemide. Recent readings suggest loop diuretic + CCB as appropriate first line. Amiloride: Potassium sparing diuretic - often hyperkalaemia is an issue in GN Captopril: ACE inhibitor will worsen AKI

Answer 15

C - GAD antibody Think the key here is "at time of diagnosis". IAA first but disappear by diagnosis, GAD second. Uptodate: Insulin autoantibodies are often the first to appear in children followed from birth and progressing to diabetes and are the highest in young children developing diabetes. IAA (insulin autoantibodies) were almost always the first to appear, with other antibodies (ICA, GAD, or IA-2) appearing later. Nelsons: IAAs are usually the first to appear in young children, followed by glutamic acid decarboxylase 65 kDa, and later by tyrosine phosphatase insulinoma–associated 2 and zinc transporter 8 antibodies Other: Islet cell antigen (ICA): The first islet ‘autoantigen’ to be described. Now known to be a complex of autoantigens. Antibodies to ICA are present in 90% of type 1 diabetes patients at the time of diagnosis. GAD: A constituent of the ICA antigen complex. Present in the 65 kDa form in the human islet. Also present in the central nervous system. GAD antibodies are present in 73% of type 1 diabetes patients at diagnosis. Antibodies to insulin and pro-insulin, the biochemical precursor to insulin, are present at diagnosis in 23% and 34% of type 1 diabetes patients, respectively.

Answer 16

E - no treatment ASID guideline. Risk of subsequent fetal varicella syndrome (FVS) following maternal chickenpox in pregnancy: - < 12 weeks gestation: 0.55% - 12-28 weeks gestation: 1.4% - >28 weeks gestation: No cases of FVS reported Perinatal Chickenpox Rx Infants: - Maternal chickenpox > 7 days before delivery: No ZIG. No other interventions unless baby <28/40 or <1kg, in which case aciclovir. No isolation. Breast feed. - Maternal chickenpox -7 to +2 days from birth: ZIG immediately, w/i 24 hours (up to 72) from birth. Discharge ASAP. No isolation. Breast feed. - Maternal chickenpox +2 to +28 days after delivery: ZIG required, can be up to 10 days after maternal rash. Discharge ASAP. No isolation. Breast feed. IF INFANT DEVELOPS CHICKENPOX: - very preterm: IV aciclovir - term: if severe disease / respiratory symptoms / ZIG given >24 hours after birth, aciclovir.

Answer 17

B - EBV Rash not consistent with scarlet fever and ?should improve with pencillin. ASOT takes 4-6 weeks to peak. Lymphadenopathy, splenomegaly more c/w EBV. Uptodate: Scarlet fever (also known as "scarlatina") is a diffuse erythematous eruption that generally occurs in association with pharyngitis. Development of the scarlet fever rash requires prior exposure to S. pyogenes and occurs as a result of delayed-type skin reactivity to pyrogenic exotoxin (erythrogenic toxin, usually types A, B, or C) produced by the organism. The rash of scarlet fever is a diffuse erythema that blanches with pressure, with numerous small (1 to 2 mm) papular elevations, giving a "sandpaper" quality to the skin. The presence of palatal petechiae, splenomegaly, and posterior cervical adenopathy are highly suggestive of IM, while the absence of cervical lymphadenopathy and fatigue make the diagnosis less likely. Heterophile antibodies react to antigens from phylogenetically unrelated species. The Monospot is a latex agglutination assay using horse erythrocytes as the substrate. The false-negative rates are highest during the beginning of clinical symptoms (25 percent in the first week). Heterophile antibody tests are often negative in infants and children less than four years of age. ASOT: Following streptococcal pharyngitis, the antibody response peaks at about four to five weeks.

Answer 18

E - minimise the risk of pulmonary toxicity due to other oxides of nitrogen

Answer 19

C - haloperidol (1999 question). Not sure about this one. USMLE book ADHD: Onset before age 12. Limited attention span and poor impulse control. Characterized by hyperactivity, impulsivity, and/or inattention in multiple settings (school, home, places of worship, etc). Normal intelligence, but commonly coexists with difficulties in school. Continues into adulthood in as many as 50% of individuals. Treatment: stimulants (eg, methylphenidate) +/– cognitive behavioral therapy (CBT); alternatives include atomoxetine, guanfacine, clonidine. Tourette syndrome: Onset before age 18. Characterized by sudden, rapid, recurrent, nonrhythmic, stereotyped motor and vocal tics that persist for > 1 year. Coprolalia (involuntary obscene speech) found in only 10–20% of patients. Associated with OCD and ADHD. Treatment: psychoeducation, behavioral therapy. For intractable and distressing tics, high-potency antipsychotics (eg, fluphenazine, pimozide), tetrabenazine, guanfacine, and clonidine may be used. Anxiety disorder: Inappropriate experience of fear/worry and its physical manifestations (anxiety) incongruent with the magnitude of the perceived stressor. Symptoms interfere with daily functioning. Includes panic disorder, phobias, generalized anxiety disorder, and selective mutism. Treatment: CBT, SSRIs, SNRIs. OCD: Recurring intrusive thoughts, feelings, or sensations (obsessions) that cause severe distress; relieved in part by the performance of repetitive actions (compulsions). Ego-dystonic: behavior inconsistent with one’s own beliefs and attitudes (vs obsessive-compulsive personality disorder). Associated with Tourette syndrome. Treatment: CBT, SSRIs, and clomipramine are first line. Antipsychotics uses: Schizophrenia (primarily positive symptoms), psychosis, bipolar disorder, delirium, Tourette syndrome, Huntington disease, OCD.

Answer 20

D - DTP, tetanus immunoglobulin, OPV Aus Imm Schedule: DTP - 2/4/6/18 months + 4 years = 5 doses OPV - 2/4/6 months + 4 years = 4 doses This child is 6 years old with only 2x DTP and 2x OPV -> incomplete vaccination. CDC guideline: - if <3 DTP vax AND not a "clean, minor" wound -> DTP vax + TIG (if clean/minor just DTP no TIG) - if >3 DTP vax -> nothing needed Tetanus immunoglobulin ONLY for <3 doses vaccine and "all other wounds", otherwise just vaccination if "all other wounds AND >5 years from last dose" or ">10 years since last dose with any wound". OPV presumably opportunistically due to incomplete vaccination.

Answer 21

D - sodium replacement Presuming this is a post obstructive diuresis / post AKI diuresis, clear losses of Na/K in urine, would expect K to normalise with diuresis and urinary losses, but patient already hyponatraemic and looking to lose lots of Na/H2O with diuresis.

Answer 22

A - Bardet Biedl syndrome Boast notes: 1. Genetics + pathogenesis a. 19 genes have been identified b. AR c. Inter-familial and intra-familial phenotypic variability 2. Clinical manifestations a. Rode-cone dystrophy i. Night blindness by 7-8 years ii. Legal blindness by 15 years b. Truncal obesity i. Normal birthweight ii. Rapid weight gain in first year c. Postaxial polydactyly d. Cognitive impairment + learning disability e. Urogenital i. Male hypogonadotropic hypogonadism ii. Complex female genitourinary malformations iii. Renal abnormalities 3. Prognosis a. Poor prognosis Fragile X: X-linked, ID+typical facies(prominent forehead, long narrow face, large ears)+macroorchidism Prader-Willi: o Floppy baby (hypotonia) o Voracious appetite (hyperphagia) o Obesity, short stature o Moderate ID o Hypogonadism Usher: the most common genetic cause of combined vision and hearing impairment and deafblindness. People with Usher syndrome often have partial or total hearing loss and a gradual vision loss caused by retinitis pigmentosa. Hypothyroidism doesn't explain the polydactyly.

Answer 23

C - plasma VLCFA ratio (elevated in nearly all peroxisomal disorders). This patient has X-linked adrenoleukodystrophy (hyperpigmentation of gums is the clue). MRCPCH book: Paediatric cerebral form of XLALD presents with severe neurological degeneration, usually between age 5 and 10, progressing to a vegetative state and death within a few years. Features - school failure, behavioural problems - visual impairment - quadriplegia - seizures (late) - adrenal insufficiency*** Adrenal involvement may precede or follow neurological symptoms by years. Some develop only neuro symptoms, others only have adrenal insufficiency. All boys developing adrenal failure should have VLCPFA checked to ensure this is not missed.

Answer 24

D - IVIG Diagnosis ITP - generally don't need to treat as risk of bleeding low and given it's a immunologic process any transfused platelets get mopped up immediately. Out of date question (1999) but as per RCH guideline: The decision to treat a child should be based on the clinical symptoms and not the platelet count, based on risk category. Low (petechiae, bruises, crusted blood in nares): nil treatment, f/up 1 week with FBE Moderate (epistaxis >5 mins, haematuria/chezia, painful purpura, menorrhagia): admit, haem to review film, 1st line pred or if needing RAPID RISE then IVIG (also 2nd line) Severe/life threatening -> haem, IVIG+IVMP, platelet transfusion, tranexamic acid, +/- surg review

Answer 25

C - rotavirus Too long a duration for the others, not severe enough for cholerae. Age is right for rota as well (6mo-2yrs). Avg duration 8 days, but protracted illness can occur. Causes of villous atrophy: Autoimmune (coeliac disease, Crohns, AI enteropathy) Infective (giardia, rotavirus/viral, HIV, TB) Meds (Mycophenolate mofetil, azathioprine, methotrexate, and nonsteroidal antiinflammatory drugs) Immunodeficiency (CVID) Neoplastic Ischaemic Campylobacter: incubation 3 days, diarrhoea (bloody) fever abdominal pain vomiting, usually mild and self-limiting, diarrhoea last an average of 7 days and organisms may be shed for several weeks ETEC: travellers diarrhoea, nearly always benign and self-limited, malaise, anorexia, and abdominal cramps followed by the sudden onset of watery diarrhoea, most resolved within 3-5 days Salmonella typhimurium (non typhoidal): don't cause enteric fever (typhi and paratyphi), incubation 8-72 hours, nonspecific gastro, generally self-limited 10-14 days. Vibrio cholerae: acute secretory diarrhoeal illness caused by toxin production, severe cholera is characterized by profound fluid and electrolyte losses in the stool and the rapid development of hypovolemic shock, often within 24 hours from the initial onset of vomiting and diarrhoea. Incubation 1-2 days, the characteristic symptom of severe cholera ("cholera gravis") is the passage of profuse "rice-water" stool, a watery stool with flecks of mucous. Abdominal discomfort, borborygmi, and vomiting are other common symptoms. Lasts 2-3 days.

Answer 26

E - schizophrenia USMLE book: Chronic mental disorder with periods of psychosis, disturbed behavior and thought, and decline in functioning lasting > 6 months. Diagnosis requires at least 2 of the following, and at least 1 of these should include 1–3 (first 4 are “positive symptoms”): 1. Delusions 2. Hallucinations—often auditory 3. Disorganized speech 4. Disorganized or catatonic behavior 5. Negative symptoms (affective flattening, avolition, anhedonia, asociality, alogia) ADHD: Onset before age 12. Limited attention span and poor impulse control. Characterized by hyperactivity, impulsivity, and/or inattention in multiple settings (school, home, places of worship, etc). Normal intelligence, but commonly coexists with difficulties in school. Continues into adulthood in as many as 50% of individuals. Treatment: stimulants (eg, methylphenidate) +/– cognitive behavioral therapy (CBT); alternatives include atomoxetine, guanfacine, clonidine. BPAD: Bipolar I defined by presence of at least 1 manic episode +/− a hypomanic or depressive episode. Bipolar II defined by presence of a hypomanic and a depressive episode. Patient’s mood and functioning usually return to normal between episodes. Use of antidepressants can precipitate mania. High suicide risk. Treatment: mood stabilizers (eg, lithium, valproic acid, carbamazepine), atypical antipsychotics. Depression: May be self-limited disorder, with major depressive episodes usually lasting 6–12 months. Episodes characterized by at least 5 of the following 9 symptoms for 2 or more weeks (symptoms must include patient reported depressed mood or anhedonia). 1. Depressed mood, 2. Sleep disturbance, 3. Loss of Interest (anhedonia), 4. Guilt or feelings of worthlessness, 5. Energy loss and fatigue, 6. Concentration problems, 7. Appetite/weight changes, 8. Psychomotor retardation or agitation, 9. Suicidal ideations Treatment: CBT and SSRIs are first line. SNRIs, mirtazapine, bupropion can also be considered. Electroconvulsive therapy (ECT) in select patients.

Answer 27

C - laryngeal papillomatosis Uptodate: The prevalence of hoarseness in children ranges from 4 to 23 percent. Hoarseness can be caused by any process that affects the structure or function of the larynx. Aetiologic categories of hoarseness include infection, inflammation, trauma, obstruction or infiltration, and congenital anomalies. Recurrent respiratory papillomatosis (RRP) is the most common benign laryngeal tumor in children. Benign tumors of the larynx are a rare cause of hoarseness in children. These tumors include papillomas, hemangiomas, cystic hygromas, and neurofibromas. RRP is typically diagnosed between the ages of two and three years. RRP is thought to be caused by acquisition of human papillomavirus (HPV) during passage through the birth canal of an infected mother. Bronchogenic cyst: predominantly intrathoracic although can occur anywhere along tracheobronchial tree. Laryngeal cysts present in infancy. Affected patients (bronchogenic cysts) typically present during the second decade of life with recurrent coughing, wheezing (which may simulate asthma), and pneumonia Infantile larynx = laryngomalacia Lingual cyst: ?tongue not larynx Vascular ring: should be a fixed stenosis

Answer 28

B - haemophilus influenzae type B X-linked agammaglobulinaemia - all Ig markedly reduced/absent - B cells in peripheral blood absent/nearly absent (most characteristic finding) Newborns asymptomatic and present after 6mo when placentally derived IgG no longer present. AKA Bruton's disease, defective Bruton's tyrosine kinase, B cell precursors fail to mature. There is only one characteristic physical finding of XLA and that is the absence or near absence of the B cell-rich tonsils and adenoids. ``` Recurrent bacterial respiratory tract infections are the most common manifestation of XLA. The infections are usually caused by encapsulated pyogenic bacteria, organisms for which opsonization by antibody is a primary host defense. ●Streptococcus pneumoniae ●Haemophilus influenzae type B ●Streptococcus pyogenes ●Pseudomonas species ```

Answer 29

E - arrange for the parents to have a FISH study of locus 22q11 Velocardiofacial syndrome Need to know whether de novo mutation or whether inherited to determine risk. Uptodate Velocardiofacial syndrome (VCFS), also known as Shprintzen syndrome, is an autosomal-dominant disorder caused by a deletion in chromosome 22q11. This deletion has also been identified in the majority of patients with DiGeorge sequence and conotruncal anomaly face syndrome, suggesting that these are phenotypic variants of the same disorder. The deletion occurs "de novo" in the majority of cases, but approximately 15 percent are inherited from an affected parent. Affected patients have retrognathia, a long face with a prominent nose. Velopharyngeal incompetence (weak pharyngeal musculature) producing speech abnormalities such as hypernasal speech is very common. Submucous or overt clefts of the secondary palate can occur. Chronic otitis media is present in 75 percent of cases. Transient neonatal hypocalcemia occurs in 20 percent. Congenital heart defects occur in 85 percent of cases. The most common are ventricular septal defect (62 percent), right-sided aortic arch (52 percent), and tetralogy of Fallot (21 percent). Learning disabilities are frequent, and mild intellectual impairment occurs in approximately 40 percent of patients.

Answer 30

D - Fanconi anaemia None of the other answers account for congenital heart disease and hypospadius. Uptodate: Fanconi anemia (FA) is an inherited bone marrow failure syndrome characterized by pancytopenia, predisposition to malignancy, and physical abnormalities including short stature, microcephaly, developmental delay, café-au-lait skin lesions, and malformations belonging to the VACTERL-H association. Others AML: WCC should be raised. Neoplastic monoclonal proliferation of myelogenous stem cells (myeloblasts) in bone marrow (>20%). Auer rods. Bernard-Soulier: Defect in platelet plug formation. Large platelets. Reduced GpIb -> defect in platelet-to-vWF adhesion. Platelet count normal/low, increased bleeding time. Chronic ITP: This ongoing form accounts for most ITP seen in adults and is far less common in children. Chronic ITP has similar symptoms to acute ITP, except that it lingers for longer than six months. Wiskott-Aldrich: AKA eczema-thrombocytopenia-immunodeficiency syndrome. Most commonly X-linked, males, over 2 years old. Mutation in Wiskott-Aldrich syndrome protein (WASP) produced by all haematopoetic cells.

Answer 31

D - transposition, VSD, PS Unclear whether the age of operations, scars, or CXR hold the answer here.

Answer 32

E - tremor

Answer 33

C - maternal serum B12 level Vitamin B12 deficiency is uncommon in children but can occur in exclusively breastfed infants of mothers eating a strict vegetarian (vegan) diet, or with vitamin B12 malabsorption due to gastric bypass, short bowel syndrome, or pernicious anemia. Increased methylmalonic acid levels are a sensitive indicator of mild vitamin B12 deficiency and elevated homocysteine levels denote vitamin B12 or folate deficiency. - didn't know this previously, basically makes the other options irrelevant. Uptodate Deficiencies of vitamin B12 and/or folate can cause megaloblastic anemia (macrocytic anemia with other features due to impaired cell division). Vitamin B12 deficiency can also cause neuropsychiatric findings. Human cells cannot synthesize vitamin B12 or folates. In most cases, a typical balanced diet will contain adequate amounts of both vitamins, with the notable exception that vegan diets do not contain adequate vitamin B12. Vitamin B12 (also called cobalamin) is present in many animal products, including meats, dairy products, and eggs. Many breakfast cereals are fortified with vitamin B12. In contrast, vitamin B12 is not present in foods derived from plants, with the exception of those that contain animal products or added vitamin B12. Vegans, strict vegetarians, and some pregnant or lactating women who limit animal protein can become vitamin B12-deficient. Others: - BM biopsy: too invasive for next line management and as above urine is suggestive of B12 deficiency - enzyme assay in cultured fibroblasts: investigating for inborn errors of metabolism (specifically disorders of CHO, FA, mitochondria) - Schilling test: The Schilling test is primarily of historical interest; this test is no longer routinely available. Prior to the availability of other testing for pernicious anemia, the Schilling test was used to determine if an individual with vitamin B12 deficiency was able to absorb vitamin B12 via the oral route. - small bowel biopsy: coeliac disease, not relevant given exclusively breast fed, also IDA so microcytic

Answer 34

E - no durgs ?Looks like VT in one lead but not others -> inaccurate recording for that period? Hence the documentation with watching TV and going to bed, ?likely artifect. OR it's showing nonsustained VT with an otherwise normal 12 lead, exam, and TTE, which wouldn't necessarily require treatment anyway if asymptomatic.

Answer 35

E - no investigation Isolated mild unconjugated hyperbilirubinaemia with normal LFTs otherwise, well patient, no evidence of haemolysis (normal film and retics), plus the evidence of stress/diet = Gilbert's and requires no further work up. Uptodate: In a patient with a history consistent with Gilbert syndrome (eg, the development of jaundice during times of stress or fasting), normal serum aminotransferase and alkaline phosphatase levels and mild unconjugated hyperbilirubinemia (<4 mg/dL), additional testing is not required. Genetic testing can confirm the diagnosis in settings where there is diagnostic confusion. The most common inherited disorder of bilirubin glucuronidation is Gilbert syndrome (also known as Meulengracht disease). Gilbert syndrome is a benign condition that has also been called "constitutional hepatic dysfunction" and "familial nonhemolytic jaundice". Although many patients present as isolated cases, the condition can also run in families. It is characterized by recurrent episodes of jaundice and may be triggered by, among other things, dehydration, fasting, intercurrent disease, menstruation, and overexertion. Other than jaundice, patients are typically asymptomatic. The hyperbilirubinemia in patients with Gilbert syndrome is unconjugated. The diagnosis is made by excluding other causes of unconjugated hyperbilirubinemia, though genetic testing is available. No treatment is necessary, though it may be a risk factor for toxicity from some medications. The prevalence of Gilbert syndrome has been reported to be between 4 and 16 percent. Gilbert syndrome is the result of a defect in the promotor of the gene that encodes the enzyme uridine diphosphoglucuronate-glucuronosyltransferase 1A1 (UGT1A1), which is responsible for the conjugation of bilirubin with glucuronic acid.

Answer 36

E - 1% Referring to Apert syndrome - sporadic mutations. Boast notes: 2. Apert syndrome a. Sporadic (some AD) b. FGFR2 mutation c. Clinical manifestations i. Skeletal 1. Irregular craniosynostosis (brachycephaly, plagiocephaly - coronal) 2. Premature fusion of coronal, sagittal, lambdoid sutures 3. Midface hypoplasia + OSA 4. Exophthalmos but less severe than Crouzon 5. Symmetrical syndactyly (fusion of 2nd/3rd/4th digits – single nail 2nd-4th digits) ii. Neuro 1. Hydrocephalus 2. Intellectual disability Uptodate: Apert syndrome is an autosomal dominant disorder that occurs in 6 to 15.5 out of 1 million livebirths. Most cases are sporadic. Mutations in the gene encoding fibroblast growth factor receptor 2 (FGFR2), located on chromosome 10, account for almost all known cases. Syndactyly is a characteristic feature of Apert syndrome that permits distinction from other similar syndromes. Patients with Apert syndrome typically have a complex syndactyly known as mitten hand.

Answer 37

Outdated question. Answer was B (MCUG and USS) but as per RCH guidelines wouldn't recommend this now. Answer should be C. Also in my experience on renal at RCH MCUG would only be done if USS showed dilation +/- for other concerns like atypical/recurrent UTIs. RCH: Other investigations - Check renal function and consider renal ultrasound if the child is seriously unwell, or not responding to appropriate therapy after 48hrs - Consider blood culture and lumbar puncture for unwell infants less than 4 weeks old, or if sepsis or meningitis is suspected at any age Follow up - Seriously unwell children, those with renal impairment, and boys <3 months of age should have a renal ultrasound prior to discharge - Other children do not require an ultrasound for a first UTI; a non-urgent renal ultrasound should be arranged for children who have recurrent UTIs - Routine antibiotic prophylaxis after simple UTI is not required - Specialist follow-up should be arranged for children with recurrent UTI or known renal anomalies

Answer 38

C - haemophilia. Being male is probably the key here. If female then VWD. USMLE book: Haemophilia: Intrinsic pathway coagulation defect. A: deficiency of factor VIII inc PTT; X-linked recessive. B: deficiency of factor IX inc PTT; X-linked recessive. C: deficiency of factor XI inc PTT; autosomal recessive. Macrohemorrhage in hemophilia—hemarthroses (bleeding into joints, such as knee A ), easy bruising, bleeding after trauma or surgery (eg, dental procedures). Treatment: desmopressin + factor VIII concentrate (A); factor IX concentrate (B); factor XI concentrate (C). VWD: Intrinsic pathway coagulation defect: reduced vWF = increased PTT (vWF acts to carry/protect factor VIII). Defect in platelet plug formation: reduced vWF = defect in platelet-to-vWF adhesion. Autosomal dominant. Mild but most common inherited bleeding disorder. No platelet aggregation with ristocetin cofactor assay. Treatment: desmopressin, which releases vWF stored in endothelium. APLS: prothrombotic Factor 7 = extrinsic pathway = PT/INR abnormal Aspirin = no affect on coag studies

Answer 39

C - psychogenic asthma ?Outdated terminology - ?vocal cord dysfunction Uptodate: A so-called "saw-tooth" pattern has been described that consists of small, rapid oscillations in flow during both expiration and inspiration (figure 12). Detecting the saw-tooth pattern is subjective and artifacts in the resonance frequency of the recording equipment can have a similar appearance. Conditions associated with a saw-tooth pattern on the flow-volume loop include neuromuscular diseases, Parkinson disease, laryngeal dyskinesia, pedunculated tumors of the upper airway, tracheobronchomalacia, upper airway burns, and obstructive sleep apnea (OSA). Asthma: should show obstructive picture Obliterative bronchiolitis: obstructive Croup: ?Variable extrathoracic obstruction

Answer 40

D - viral swabs from conjunctiva and nasopharynx 24-48 hours after delivery - outdated - currently as below, guidelines aren't specific about swabs, would be as per advice from ID - D or E acceptable answers based on current guidelines ASID: For current HSV: If HSV detected in genital tract at delivery: risk of transmission is 1-3%; risk greater for HSV1 (15%) than HSV2 (<0.01%). Much higher risk (25-50%) if no past history and no seroconversion before 30-34 weeks. Management algorithm - "Asymptomatic infant with low risk of neonatal HSV disease i.e. mother with recurrent genital infection, or primary genital or systemic infection seroconverted well prior to delivery with or without genital lesions at delivery": As transmission is rare in this setting, most experts follow infants for clinical disease and educate family about signs of infection. However, some experts recommend swabs (eye, throat, umbilicus, rectum +/- urine) and blood for HSV PCR at 24 hours of life or beyond to detect asymptomatic infection based on USA consensus guidelines. Note: swabs taken <24 hours are thought to indicate colonisation not infection. If high risk (mother with primary genital or systemic infection close to delivery or infant born through birth canal with active HSV disease to mother with no prior history of genital HSV): Perform: • LP (CSF analysis, viral culture, HSV PCR) • blood count (for low platelets), • LFT's • HSV PCR on blood (if available) • surface swabs, eye, throat, umbilicus, rectum, urine (if not collected already), skin vesicle. Commence IV aciclovir immediately from birth (suspected HSV disease), duration will depend on surface culture & CSF results.

Answer 41

A - DiGeorge. Likely partial thymic aplasia, as complete aplasia should produce a SCID phenotype with T cell count low/non existent. Expect low T cells, potentially normal B cells, but hypogammaglobulinaemia due to lack of T helper cells. Osmosis: AKA 22q11.2 deletion. Deletion of TBX gene, impaired development of pharyngeal pouches 3 and 4, hypoplasia of thymus and parathyroid gland -> immunodeficiency (deficiency in mature T cells), hypocalcaemia, cardiac defects (truncus, TOF). Facies: long face, small teeth, broad nose Cleft palate ID T cell function proliferation assays: PHA (phytohemagglutinin) is a mitogen allows measurement of peripheral blood T cell proliferation in response to stimulus. Mitogens are powerful T cell stimulants. SCID: Defect in T and B cell development, severe, causes vary but cytokine receptor defects (IL2-R) and adenosine deaminase deficiency most common (intracellular accumulation of lymphocyte toxic metabolites). HIV: Specific for CD4 Isolated IgA: No as other lines suppressed Wiskott-Aldrich: Not thrombocytopenic. Wiskott-Aldrich: Triad of microthrombocytopenia, eczema, recurrent pyogenic infections. X-recessive. Mutation in WASP gene (Wiskott-Aldrich syndrome protein).

Answer 42

C - cefaclor Serum sickness like reaction. Classic drug. The most common signs and symptoms of serum sickness are dermatitis (rash), fever, malaise, and polyarthralgias or polyarthritis. Uptodate: The cardinal features of serum sickness are rash, fever, and polyarthralgias or polyarthritis, which begin one to two weeks after the first exposure to the responsible agent and resolve within a few weeks of discontinuation. Although patients may appear very ill and uncomfortable during the acute febrile stage, the disease is self-limited, and prognosis is excellent once the responsible drug is stopped. Serum sickness is the prototypic example of the Gell and Coombs "type III" or immune complex-mediated hypersensitivity disease. SS is generally the result of administration of a protein antigen from a nonhuman species, e.g. monoclonal antibodies. Reactions to a variety of drugs (especially cefaclor and anti-seizure medications) can clinically resemble classic serum sickness but are believed to be caused by different mechanisms. These are called serum sickness-like reactions (SSLRs). Serum sickness is more common in adults, while SSLRs are more common in children.

Answer 43

E - Juvenile myoclonic epilepsy Uptodate: Juvenile myoclonic epilepsy (JME) is frequently diagnosed in pediatric epilepsy clinics but is often not recognized by referring clinicians. Typically, the patient is a healthy young teenager with one or more of the following seizure types: ●Myoclonic jerks (most frequent in the morning, within the first hour after awakening) ●Absence seizures ("typical" petit mal seizures that often precede the other seizures and begin toward the end of the first decade) ●Generalized tonic-clonic seizures, which also have a tendency to occur upon awakening Childhood absence epilepsy – Childhood absence epilepsy is an idiopathic generalized epilepsy with a peak age of onset of six to seven years, affecting girls more than boys, characterized by frequent (multiple per day) absence seizures in an otherwise normal child. GTCS often develop in adolescence. Myoclonic jerks do not occur in CAE. Benign occipital epilepsy of childhood (Gastaut type) produces frequent seizures with prominent visual symptoms (hallucinations, blindness). The mean age of onset is between eight and nine years. EEG reveals occipital spikes that are activated by eye closure.

Answer 44

C - mid diastolic rumble Park's cardiology: An apical diastolic rumble is present with a moderate-large shunt, caused by an increased flow through the mitral valve during diastole.

Answer 45

B - aerosol via large volume spacer 1999B - outdated As per RCH guideline: Spacers - A spacer device should be used for children of all ages whenever they use a MDI - Small volume spacers are suitable for children of all ages - Small volume spacers should be fitted with a well-sealing face mask for younger children who cannot reliably seal their lips around the mouthpiece (generally <4-5 years old)

Answer 46

D - plasma HIV RNA concentration Uptodate: Most untreated HIV-infected children show progression of HIV infection to acquired immune deficiency syndrome (AIDS) and die before age five years. In children, the most common OIs are serious bacterial infections, such as pneumonia and bacteremia, followed by herpes zoster, disseminated M. avium complex infections, and invasive candidal infections of the esophagus or tracheobronchial tree. 1996 paper: Current clinical wisdom holds that the prognosis of HIV-infected persons -- including their need for antiretroviral therapy and other medications -- is best assessed by their CD4 lymphocyte counts. However, mounting evidence suggests that PCR measurement of plasma HIV RNA ("viral load") is actually a far more powerful tool for this purpose.

Answer 47

E - pred 2mg/kg/day. Steroid responsive, but now frequent relapse/dependent. I guess the point here is she has steroid responsive disease, and is presenting with a relapse. Therefore acute management is pred. Frequent relapsing: defined as four or more relapses per year or two or more relapses in the initial six months after diagnosis. This girl now meets the criteria, as she has had 2 relapses in 3 months. In addition, there is a group of patients who are steroid dependent (defined as relapsing during taper or within two weeks of discontinuation of steroid therapy). For longer term management nephrology team would probably consider a calcineurin inhibitor, and at RCH tacrolimus seems to be the second line agent of choice to get off pred.

Answer 48

E - small muscular VSD Park's: A grade 2-5/6 systolic murmur is heart at the LLSB. It may be holosystolic or early systolic. An apical diastolic rumble is present with a mod-large shunt due to increased flow through the mitral valve during diastole. ASD: generally have a flow murmur across the pulmonary valve due to relative stenosis (from increased blood flow). Murmur is systolic, maximal at LUSB. TOF: Murmur present from birth. Cyanotic. RV tap and systolic thrill commonly present. Long, loud, ejection systolic murmur at mid and upper LSB due to PS, plus holosystolic murmur of VSD. PPAS: Midsystolic murmur in the pulmonary valve area, transmitted to axillae and back. PVS: As for ASD

Answer 49

E - Streptococcus pneumoniae Osmosis: CVID: hypogammaglobulinaemia due to defect in B cell differentiation, impaired differentiation into plasma cells. Encapsulated bacteria: Haemophilus influenzae, pneumococci, streptococci

Answer 50

2000A Paper E - WISC ``` Wechsler: 6-16years Involves: • Verbal comprehension • Visual spatial • Fluid reasoning • Working memory • Processing speed Good points • Generates an IQ score • Can be used to dx ADHD and learning disability • 45-65 minutes to administer Limitations • Does NOT include reading ability ``` ``` Others Bailey: 1-3 years, gold standard and good for severe delay Griffiths: 0-2yrs McCarthy: 2-8years Peabody: >2.5years ```

Answer 51

A - left atrial mean

Answer 52

E - upper Gravity dependent Ventilation higher in elevated area Perfusion greater in lower area -> V/Q highest in upper portion whilst erect

Answer 53

D - translocation 9;22 Philadelphia chromosome Poor prognosticators: - age (<2 or >9) - WCC >50 - boys - chromosomal abnormalities/translocations - hypodiploidy (near haploploidy carries the worst prognosis) - CNS disease

Answer 54

A - IgA endomysial Question from 2000A - ?outdated Current screening/serology includes IgA TTG, IgG DGP, +/- total IgA (to screen for IgA deficiency which creates false negatives for TTG IgA). I known IgA deficiency can test TTG with IgG. DGP replaced the old anti-gliadin test due to improved specificity. Uptodate: Approximately 2 percent of children with celiac disease will have previously unrecognized IgA deficiency. Although European guidelines recommend routine measurement of serum total IgA in all patients, we think a more cost-effective population approach is to measure total IgA in those children with negative results of tTG-IgA but a high clinical suspicion of celiac disease. For all other children, the yield is very low. For most patients, the most valuable test is for IgA antibodies against tissue transglutaminase (tTG-IgA). This test is highly sensitive, specific, and more cost-effective than other antibody tests. The sensitivity and specificity of tTG-IgA antibodies for biopsy-proven celiac disease are generally above 96 percent (lower in children <2). Testing for anti-endomysial antibodies (EMA) is as accurate as tTG-IgA, but this test is more expensive and somewhat dependent on operator interpretation. As a result, EMA is typically used as a second-line test to clarify the diagnosis in patients with equivocal results of tTG-IgA, including asymptomatic members of a high-risk group. Deamidated gliadin peptide (DGP) also has good diagnostic accuracy and may be particularly useful for young children; this is a second-generation anti-gliadin antibody test. Tests of anti-reticulin antibodies have reasonably high specificity, but lower sensitivity, and are no longer commonly used. Standard (first-generation) IgA or IgG anti-gliadin antibodies are considerably less reliable and are not recommended.

Answer 55

E - 4:1 Qp/Qs = (arterial-mixed venous sats)/(pulmonary venous sats - pulmonary artery sats) ?Because systemic->portal shunt i.e. bypassing right side of heart, only output into PA will be from the left-right shunt through the VSD -> will be same as arterial? = (90-70)/(95-90) = 20/5 = 4/1

Answer 56

A - case control study

Answer 57

B - hepatitis B DPT, hepatitis B and tetanus toxoid vaccines can be damaged by freezing.

Answer 58

A - activated protein C resistance. The most common cause of APCR is factor 5 leiden. Uptodate The most common ITs identified in pediatric VTE include factor V Leiden, prothrombin G20210A mutation, antithrombin deficiency, and proteins S and C deficiencies. FVL accounts for 5-10%. Factor V Leiden (FVL) results from a point mutation in the F5 gene, which encodes the factor V protein in the coagulation cascade. FVL renders factor V (both the activated and inactive forms) insensitive to the actions of activated protein C (aPC), a natural anticoagulant. As a result, individuals who carry the FVL variant are at increased risk of venous thromboembolism (VTE). In most cases of pediatric VTE, there are underlying risk factors, the most common of which is the presence of an indwelling central venous catheter. Inherited thrombophilias (IT) also contribute to the risk of VTE; however, the prevalence of IT varies considerably depending upon the specific patient population. An underlying thrombophilia is far more likely in patients with unprovoked VTE compared with provoked (eg, catheter-related). The incidence of pediatric VTE is highest among hospitalized neonates and infants, but there is a second "peak" in adolescence often in the setting of oral contraceptive use.

Answer 59

D - Y is a non-competitive antagonist of X

Answer 60

A - aphasia Google: Cortical symptoms or signs include aphasia, agraphia, alexia, acalculia, neglect, extinction, apraxia, agnosia (including cortical sensory loss such as astereognosis), and hemianopia. Strokes affecting the cerebral cortex (i.e. cortical strokes) classically present with deficits such as neglect, aphasia, and hemianopia. Subcortical strokes affect the small vessels deep in the brain, and typically present with purely motor hemiparesis affecting the face, arm, and leg.

Answer 61

E - Williams syndrome Pastest book: Calcium in the body is 40% protein bound (98% bound to albumin), 48% ionized, and 12% complexed to anions such as phosphate or citrate. Williams - heterozygous deletions of chromosomal subband 7q11.23 leading to an elastin gene defect in >90%. Hypercalcaemia rarely persists beyond 1 year. Other Alkalosis - degree of protein binding of plasma calcium is proportional to plasma pH. Increased pH leads to increased protein-bound calcium which reduces ionised calcium. APS - Type 1 = HYPOparathyroidism, addisons, chronic mucocutaneous candidiasis, type 2 = HYPOparathyroidism, primary hypogonadism, T1DM, pernicious anaemia, addisons, vitiligo Hypoalbuminaemia - will reduce total calcium concentration (see above) but doesn't seem to affect ionised calcium. Vit D deficiency - hypocalcaemia d/t reduced absorption

Answer 62

C - 24 hours Factor II - 60 hours, VII - 4 to 6 hours, IX - 24 hours, and X - 48 to 72 hours.

Answer 63

D - peak growth velocity occurs later during puberty in males

Answer 64

A - chronic large airway obstruction on right side

Answer 65

D - pertussis 2 year old vaccines: - hep B x4 - DTP x4 - Hib x4 - polio x3 (4th given at 4 years) - rotavirus x2 - pneumococcal x4 - MMRx2 - varicella x1 - meningococcal x1 Effectiveness: - pertussis 85% - diphtheria 95% - Hib conjugate vaccines are highly effective in producing immunity to Hib bacteria. More than 95% of infants develop protective antibody levels after receiving a primary series of 2 or 3 doses. - After two doses, 97% of people are protected against measles, 88% against mumps, and at least 97% against rubella

Answer 66

B - defective secretion of protein Z from the hepatocyte Pastest book - alpha 1 antitrypsin deficiency Most common inherited cause of conjugated jaundice. AR. Mutation at the protease inhibitor Pi locus on chromosome 14. Most common disease phenotype is PiZZ - homozygous for a point mutation causing replacement of glutamic acid by glycine at position 342, causing abnormal folding of the molecule so that it becomes trapped in the endoplasmic reticulum, causing liver damage. Diagnosis by low A1AT levels, and phenotype (Pi) Replacement with recombinant A1AT is not helpful because abnormal protein continues to accumulate in the ER 50% develop chronic liver disease with half requiring liver transplant in first 10 years of life.

Answer 67

D - loss of taste to posterior third of tongue (innervated by CNIX glossopharyngeal nerve) Bells palsy AKA acquired facial nerve palsy - acute, idiopathic paralysis which is unilateral, weakness maximal for 2-4 weeks - complete recovery is usual - steroids often given but no evidence Facial nerve The main function of the facial nerve is motor control of all of the muscles of facial expression. It also innervates the posterior belly of the digastric muscle, the stylohyoid muscle, and the stapedius muscle of the middle ear. All of these muscles are striated muscles of branchiomeric origin developing from the 2nd pharyngeal arch. In addition, the facial nerve receives taste sensations from the anterior two-thirds of the tongue via the chorda tympani. The facial nerve also supplies parasympathetic fibers to the submandibular gland and sublingual glands via chorda tympani. Parasympathetic innervation serves to increase the flow of saliva from these glands. It also supplies parasympathetic innervation to the nasal mucosa and the lacrimal gland via the pterygopalatine ganglion. The facial nerve also functions as the efferent limb of the corneal reflex.

Answer 68

B - 6L/minute = O2 consumption/(arterial-venous content difference) = 150/(95-70) = 150/25 = 6

Answer 69

D - increase rate of bone resorption

Answer 70

D - spastic diplegia Spastic diplegia is most frequently seen as the result of periventricular leukomalacia in preterm infants. Athetoid CP may result from either bilirubin encephalopathy or brief profound anoxic-ischaemic episodes. Spastic hemiplegia is most common with term babies who suffer perinatal stroke/IVH. ``` Spastic quadriplegia: Congenital infection Cerebral dysgenesis Perinatal or postnatal evets Infants affected: SGA, Late preterm ```

Answer 71

B - inhibition of cytochrome P450 enzymes

Answer 72

A - 51 Cr EDTA clearance

Answer 73

MRCPCH book Carbamazepine - partial seizures, GTCS - S/E: ataxia, sedation, leukopenia, thrombocytopenia, rash Valproate - all seizure types - S/E: N/V/abdo pain, tremor, hair loss, thrombocytopenia, LFT derangement Lamotrigine - all seizure types - use lower dose with valproate - S/E: rash, SJS Vigabitran - partial seizures, West syndrome - S/E: sedation, visual field constriction Ethosuximide - absence seizures - S/E: GI disturbance, rash Gabapentin - partial seizures - S/E: sedation Oxcarbazepine - partial/generalised seizures - S/E: sedation, rash Topiramate - all seizure types - S/E: sedation, anorexia, paraesthesia, nephrolithiasis Clobazam/clonazepam - all seizures - S/E: sedation Phenytoin - all seizure types - S/E: sedation Phenobarbital - all seizures - S/E: sedation Levetiracetam - partial seizures (?all seizures) - S/E: sedation, mood disturbances/suicidality

Answer 74

``` Predominantly potassium (high or low) Calcium (high/low) ``` Magnesium (less common/convincing) Sodium (rarely significant)

Answer 75

Sodium (most common) Calcium Magnesium

Answer 76

E - Vigabatrin See AED SE card

Answer 77

D - hypopituitarism. MRCPCH book Panhypopituitarism - hypoglycaemia, poor feeding, micropenis***, hyperbilirubinaemia (conjugated), midline facial defects e.g. cleft palate, optic atrophy, GH and cortisol deficiency and hypothyroidism Other answers CAH - deficiency of one of the enzymes in the biosynthetic pathway of the adrenal cortex - classic type is 21-hydroxylase deficiency. 2 genes on chromosome 6 involved (CYP21B and CYP21A). Blocks production of cortisol and aldosterone, with build up of 17-hydroxyprogesterone (precursor) - ACTH drive shunts precursors along androgen biosynthesis pathway, causing VIRILISATION*** - ambiguous genitalia in girls, salt losing crisis/hypotension, precocious puberty (boys), virilisation 5-alpha reductase deficiency (UTD) - In steroid 5-alpha-reductase type 2 deficiency (due to mutations in the SRD5A2 gene), XY individuals with bilateral testes and normal testosterone formation have impaired external virilization during embryogenesis due to defective conversion of testosterone to dihydrotestosterone. In this disorder, the ratio of testosterone:dihydrotestosterone (when expressed in the same units) is typically >10:1. - doesn't account for hypoglycaemia Hyperinsulinism - alone does not account for micropenis - also generally a/w macrosomia/LGA 45XO/46XY mosaicism - unable to find much for this - likely doesn't explain hypoglycaemia

Answer 78

A - nasal congestion UTD: Antihistamines typically reduce itching, sneezing, and rhinorrhea but are less effective for nasal congestion compared with glucocorticoid sprays. H1 antihistamines are divided into first- and second-generation agents. The second-generation antihistamines are minimally sedating and are preferred over first-generation agents because they have similar efficacy and fewer central nervous system effects. Second-generation agents include cetirizine and loratadine.

Answer 79

D - Portagen, casein hydrolysate formula MRCPCH book Chylothorax is effusion of lymph into the pleural space, either as a result of underlying congenital anomaly of the pulmonary lymphatics or an iatrogenic complication following cardiothoracic surgery. Volume of chyle can be reduced by using a MEDIUM CHAIN TRIGLYCERIDE formula (absorbed straight into portal system, not lymph) or avoiding enteral feeds for up to several weeks as the underlying abnormality reoslves with time. Can be complicated by loss of protein and lymphocytes -> albumin + IVIG infusions PRN. UTD Our initial intervention is the use of a formula with a high concentration of medium-chain triglycerides. If drainage of chyle continues for more than a week, a trial of total parenteral nutrition (TPN) and nothing by mouth is administered. However, if possible, we prefer to continue enteral feeds due to the long-term complications of TPN. For infants who fail to respond within one to two weeks of dietary measures with continued chest tube output, octreotide is offered after discussion with the parent(s) or legal guardian of the infant regarding the risk and uncertainty of benefits.

Answer 80

C - iron studies Breath-holding attacks typically occur after a frustrating or painful experience - the child cries inconsolably, holds their breath, and becomes pale or cyanosed. This can progress to LOC +/- brief tonic/clonic movements. Recovery is (usually) immediate. Typical onset 6-18mo, resolution by 4-6 years. Cyanotic type more common. Pallid type d/t bradycardia. Associated with iron deficiency, and if identified improves with iron supplementation. FamHx in up to 1/3

Answer 81

B - juvenile chronic arthritis (now juvenile idiopathic arthritis) Definition: A chronic arthritis that persists for at least 6 consecutive weeks in one or more joints, starting before age 16 and after active exclusion of other causes. 1/1000. Female preponderance (except enthesitis-related). Types - Systemic: High remittent fever and rash with >1 of hepatomegaly, splenomegaly, generalised lymphadenopathy, serositis. Onset usually <5 years. - Polyarticular: 5+ joints in the onset period. Age>8 (RF positive). - Oligoarticular: MOST COMMON, <5 joints involved, particularly knees and ankles. <6 years of age. - Enthesitis-related: >9 years, males more common. HLA-B27 in 90%. - Psoriatic: A/W but not necessarily coincident with psoriatic rash (or + dactylitis, nail pitting, famhx psoriasis). Classically starts in DIP joints. Other answers: CVID: Recurrent sinopulmonary infections with reduction in two or more immunoglobulin isotypes and impaired vaccine responses usually in patients >2 (?diagnostic criteria >4 years old). Typically presents in adolescence and early adulthood, less commonly late childhood. Mostly sporadic. Causes: infections (sinopulmonary), autoimmunity, granulomatous disease, lymphoproliferation (splenomegaly, lymphadenopathy). Rheumatic fever: Inflammatory reaction in joints, skin, heart, CNS, following GAS infection. Age >3 years. Revised Jones criteria (major manifestations: carditis, polyarthritis, subcutaneous nodules, chorea, erythema marginatum).

Answer 82

E - vincristine AE of vincristine - peripheral sensorimotor+autonomic neuropathy - severe extravasation injury, must not be allowed to extravasate -> central lines. Others: Cyclophosphamide: haemorrhagic cystitis, secondary leukaemia, sterility, herpes zoster Cytarabine: N/V, mucositis, myelosuppression Ifosfamide: proximal RTA, Fanconi syndrome Methotrexate: mucositis, LFT derangement, renal failure, 3rd space accumulation

Answer 83

E - staph abscess in axillary lymph node Hyper IgE: Triad of 1) high IgE and eosinophilia, 2) eczema, 3) recurrent skin and pulmonary infections. Eczema often have Staph colonisation and occasionally infection but not likely to have abscess formation.

Answer 84

B - clindamycin. Old question (2000). No longer recommended due to high levels of resistance. In adults with large parapneumonic effusion or empyema complicating CAP, the most likely pathogens are: - Streptococcus pneumoniae - the Streptococcus anginosus (milleri) group (S. anginosus, S. constellatus, S. intermedius) - anaerobes such as Bacteroides, Veillonella and Peptostreptococcus species. Wikipedia In general, B. fragilis is susceptible to metronidazole, carbapenems, tigecycline, beta-lactam/beta-lactamase inhibitor combinations (e.g. ampicillin/sulbactam, piperacillin/tazobactam), and certain antimicrobials of the cephalosporin class, including cefoxitin. The bacteria have inherent high-level resistance to penicillin. Production of beta lactamase appears to be the main mechanism of antibiotic resistance in B. fragilis.[10] Clindamycin is no longer recommended as the first-line agent for B. fragilis due to emerging high-level resistance (>30% in some reports). Bacteroides is a gram negative anaerobe. ETG suggests addition of metronidazole for coverage.

Answer 85

C - incessant atrial tachycardia A common clinical problem is determining whether the tachycardia is the primary cause of the patient's cardiomyopathy, or if the tachycardia is secondary to a cardiomyopathy of different etiology. Incessant atrial tachycardia (AT), an infrequent cause of symptomatic supraventricular tachyarrhythmia, can cause myocardial dysfunction in approximately 10 percent of patients [12]. Children are more likely than adults to present with arrhythmia-induced cardiomyopathy due to incessant AT. When AT is seen in adults, it is more commonly associated with another cardiac problem, and distinguishing the effect of tachycardia from that of the underlying cardiac disease may be difficult. Others ALCAPA - presents at 6-8 weeks when the PVR drops. Dilated cardiomyopathy - Kawasaki disease - 6 months to 5 years Viral myocarditis -

Answer 86

C - erythema infectiosum Parvovirus B19 infection (erythema infectiosum, fifth disease). Virus affects red cell precursors and reticulocytes in the bone marrow. Incubates 1 week. Transmission via respiratory secretions and blood, NOT infectious once rash appears. P/W erythematous cheeks, then erythematous maculopapular rash on trunk and extremeties, which fades with central clearing giving the characteristic lacy/reticular appearance. Rash lasts 2-30 days. Can be complicated by aplastic anaemia, arthritis/myalgia. Others - Roseola infantum/6th disease = HHV-6. Transmitted via respiratory secretions. PW sudden onset high fever with absence of localising signs, at day 3-4 fever stops and macularpapi;ar rash appears which last hours-days. Common cause febrile convulsions. - Enterovirus: include polioviruses 1-3, coxsackieviruses A and B, echovirus A and B. Transmitted faecal/oral and respiratory droplets. PW non specific illness, fever, malaise, headache, resp/GI involvement. Hand foot and mouth = coxsackie A(16). - Scarlatina = scarlet fever = group A strep infection. Rare under 4 years of age. Rash is blanching, sandpaper-like rash, usually more prominent in skin creases, flushed face/cheeks with peri-oral pallor (GAS). - Drug reaction:

Answer 87

D - cease PN PN-associated liver disease (MRCPCH book) Develops in 40-60% of infants who require long-term PN for intestinal failure. Spectrum includes cholestasis, cholelithiasis, hepatic fibrosis with progression to biliary cirrhosis, and development of portal hypertension and liver failure. Multifactorial pathogenesis related to prematurity, low birthweight, duration of PN. Degree and severity relates to recurrent sepsis, bacterial translocation, cholangitis. Lack of enteral feeding leads to reduced gut hormone secretion, reduction of bile flow, biliary stasis -> cholestasis, biliary sludge, cholelithiasis. Management strategies include early enteral feeding, MDT approach, aseptic catheter techniques. Cyclical use of PN and reduced IV fat intake / empirical change to different lipid emulsion (SMOF) helps reduce progression also. Ursodeoxycholic acid may improve bile flow and reduce gallbladder and intestinal stasis. Other options aid in improving biochemical profile/delaying things, but ultimately do not address the causative issue. TIPS procedure addresses the portal hypertension and impaired portal flow.

Answer 88

A - breastfeeding 3 categories depending on timing of presentation: Early - w/i 24 hours - usually a/w maternal drugs interfering with vitamin K metabolism e.g. warfarin, anticonvulsants Classic - 1-7 days - mainly idiopathic or breast fed babies Late - day 8 onwards, usually peaks 3-8 weeks - idiopathic or secondary (malabsorption, cholestasis, antibiotic therapy, diarrhoea, breastfeeding) Bleeding is from any site. Vit K dependent factors are low at birth and fall further in breast fed infants in the first days of life. Breast milk contains low quantities of vitamin K (50 times more in formula). PT is prolonged, APTT may be prolonged, platelets and fibrinogen levels are normal. Treat with vitamin K (CANNOT use IM route due to risk of bleeding complications, but can be subcut). Effective within 20 minutes. Prevention with IM vitamin K at birth.

Answer 89

A - ANA Uptodate Inflammation of the anterior uveal tract, characterized by the presence of leukocytes in the anterior chamber of the eye, is called anterior uveitis and is synonymous with iritis. When the adjacent ciliary body is also inflamed, the process is known as iridocyclitis. MRCPCH ?Oligoarticular JIA - age <6, female predominance - features: arthritis 4 or fewer joints, risk of chronic iridocyclitis in the first 5 years of disease (ANA associated***) - ix: ESR (high), Hb/WCC/plt (N), RF neg, ANA frequently positive - iridocyclitis bilateral in 2/3, course is independent of the joints - rx: PT, NSAIDs, corticosteroids, ophthal, methotrexate, anti-TNF

Answer 90

B - borderline personality disorder Osmosis Unstable moods (intense joy to rage). Intense relationships that sour over time. Stable instability (consistent pattern of instability). Splitting (extreme perspectives, things seen as completely good or bad, black and white). Fear of abandonment. Diagnosis = 5+ of: frantic avoidance of abandonment, unstable intense relationships, unstable self image, self destructive impulsivity, suicide/self harming, emotional instability, feeling empty, anger management issues, transient paranoid thinking. Others Depression: affects 1/200 children <12 years and 2-3/100 teenagers. Symptoms: moodiness/irritability, withdrawal from friends/family/regular activities, self-criticism/blaming, poor concentration, lack of personal care, changes to sleep pattern, tiredness, changes in appetite, frequent minor health problems (headache, abdo pain). Treat with CBT, fluoxetine, sertraline, citalopram. Schizophrenia: rare in childhood and adolescence. Boys>girls. Major symptoms include: delusions, hallucinations, distortions of thinking (thought insertion/withdrawal), movement disorders (catatonia). Treat with anypsychotics e.g. haloperidol.

Answer 91

D - multiple episodes per night MRCHPCH Night terrors most commonly occur in children 4-7 years of age, Child wakes from deep or stage 4 sleep apparently terrified, hallucinating and unresponsive to those around them. Usually episodes last less than 15 minutes and the child goes back to sleep, with no recollection of events in the morning. It is unusual to find any underlying reason or stresses contributing to the problem.

Answer 92

A - administer antacid ?outdated question, from 2000. Seems like answer now would be endoscopy. Ipecac is an old school emesis inducing agent. Caustic damage can occur through ingestion of common household products. Alkali ingestions more commonly affect the oesophagus and are generally more severe, with acid ingestion more often affecting the stomach. Oesophagus can be severely affected without obvious injury. Emergency management - ABCs (no compromise in this case) - steroids have been shown to have NO benefit - endoscopy within the first 24 hours to assess injury Uptodate The initial steps in management of caustic ingestion is supportive care and close observation, with an emphasis on preventing vomiting, choking, and aspiration. The induction of vomiting is contraindicated because vomiting may lead to additional esophageal injury if gastric contents come in contact with the esophageal mucosa. Similarly, attempts to dilute or neutralize the caustic agent, administration of activated charcoal, or gastric lavage should not be performed. Upper endoscopy should be performed in all symptomatic patients, those who have oral burns, and those who are known to have ingested a substance with a high risk of esophageal injury. For patients with alkali ingestion and minimal symptoms (eg, vomiting or drooling alone), it is reasonable to observe overnight and proceed to endoscopy only if symptoms persist. The endoscopy ideally should be performed within 24 hours of the ingestion to evaluate and stage the esophageal injury (table 2), which guides subsequent management. Nasogastric tube — In patients in whom endoscopy reveals extensive circumferential burns (grade 2B or 3 using the system above), a nasogastric tube (NGT) should be placed under direct visualization during the endoscopic procedure. An NGT should not be inserted blindly, because perforation or additional injury can occur while passing the tube. The following strategies should not be used: ●Induction of vomiting is contraindicated because vomiting may lead to additional esophageal injury if gastric contents come in contact with the esophageal mucosa. ●Neutralizing agents should not be used, because of concern about additional damage from heat injury during the neutralization process. ●Diluting agents (eg, milk or water) should not be given, because of safety considerations and lack of efficacy. ●Activated charcoal generally should not be given to children who have ingested acidic or alkaline corrosives, as the particles are poorly absorbed and the charcoal obstructs endoscopic views.

Answer 93

E - transient abnormal myelopoiesis Known increased risk of ALL/AML/transient leukaemia. Neonates often have a transient abnormal myelopoiesis resembling leukaemia but most of these self-resolve and just need monitoring.

Answer 94

B - lack of herd immunity This question may be outdated - 2000. Information from health.gov.au: On 20 March 2014, the World Health Organization (WHO) announced that measles elimination had been achieved by Australia, Macao (China), Mongolia and the Republic of Korea. These are the first countries or areas in the Western Pacific Region to receive this distinction. When enough people are vaccinated against a disease to prevent it from spreading, this is known as ‘herd immunity’. Herd immunity offers indirect protection to: - unvaccinated people including children too young to be vaccinated - people unable to be vaccinated for a range of valid medical reasons - people for whom vaccination has not been fully effective. To achieve herd immunity for infectious diseases, coverage needs to be high. For example, measles is highly infectious so it needs a coverage rate of about 92% to 94%. Australia’s national aspirational coverage target is 95%. Reaching this aspirational target will give us enough herd immunity to stop the spread of measles and other vaccine-preventable diseases. We have met our aspirational target for five year olds and are close to meeting our aspirational target of 95% for all age groups, with more than 94.8% coverage for one year olds and more than 92.6% for two year olds. Our successes so far: - We have achieved 95.18% coverage for all five year olds. - We have achieved 97.12% coverage for Aboriginal and Torres Strait Islander five year olds. - Coverage rates for one year olds are at 94.85%.

Answer 95

D - sinus node dysfunction: digoxin Sinus node dysfunction = sick sinus syndrome. Treatment generally requires a pacemaker. a. Sinus node fails to function as the dominant pacemaker of the heart or performs abnormally slow, producing a variety of arrythmias b. Arrhythmias include: profound sinus bradycardia, sinus pause or arrest, sinus node exit block, slow junctional escape beats, and ectopic atrial or nodal rhythm c. Brady-tachyarrythmias – bradycardia and tachycardia alternate d. Long-term ECG (eg. Holter) usually required to document HR variation and prevalence of abnormally slow/fast rhythm e. If accompanied by symptoms such as syncope = sick sinus syndrome ``` Flecainide - sodium channel blocker, slows conduction via SA/AV nodes, reduces rate of depolarisation, AV conduction and contractility. Beta blockers (propranolol) - inhibit sympathetic input on SA and AV nodes, reduced automaticity, excitability, conduction. Amiodarone - potassium channel blocker, prolongs repolarisation phase, prolongs QT interval, slows SA/AV conduction, increased action potential duraction, increased refractory period. Sotalol - potassium channel blocker + beta blocking activity. Digoxin - stimulates vagal activity, release of acetylcholine, slows conduction and prolongs refractory in AV node and bundle of HIS. Also inhibits Na/K/ATPase. Not to be given in WPW. ```

Answer 96

E - 10%. Likely outdated, now <2%. As per ASID - if prevention of mother-to-child transmission strategies are followed (Maternal viral load undetectable, Appropriate mode of delivery, Formula fed baby, and baby received PEP) risk is <2%. If strategies aren't followed risk is variable: MTCT risk in developed countries in the absence of pMTCT strategies is ~20% in non-breast fed infants and double that in breast fed infants. MTCT risk is increased in ‘mixed feeding’ i.e. breast feeding + solids – data from resource poor setting. MTCT risks if a mother is on HAART and breast feeds is ~ 1–5% (in the first 6 months) – data from resource poor setting.

Answer 97

A - Na 30 K 40 Cl 0 pH 8. Initially with loss of chloride and metabolic alkalosis, bicarb delivery to tubule is increased, leading to alkaline urine, with loss of sodium and potassium in urine as well. This is eventually offset, as below. LIFTL ``` PATHOPHYSIOLOGY AND BIOCHEMISTRY Develops: 1. hypochloraemia 2. metabolic alkalosis 3. hyponatraemia 4. hypokalaemia 5. initially, alkaline urine -> later, acidic urine 6. dehydration ``` hypochloraemia – loss of chloride in vomitus metabolic alkalosis – loss of H+ in vomitus – decreased secretion of pancreatic HCO3- – increased HCO3- presented to distal tubule and eliminated producing an alkaline urine hyponatraemia – loss of Na+ in vomitus – decreased absorption of Na+ – loss of Na+ in urine until kidney adjusts to increased HCO3- load – activation of renin-AG-ALD system to off set this and restore Na+ and H2O hypokalaemia – K+ loss in vomitus – activation of rennin-AG-ALD system with produces loss of K+ in urine – with extreme K+ loss in urine -> it gets reabsorbed in distal tubule with loss of H+ worsening metabolic alkalosis and producing and acidic urine initially, alkaline urine -> later, paradoxical aciduria – in order to prevent hypokalaemia dehydration – inability to absorb enteral fluid and vomiting – activation of rennin-AG-ALD system + ADH

Answer 98

B - lamotrigine See side effect card

Answer 99

D - scleroderma. ?Nail fold telangiectasis. Google: "In scleroderma patients, Nail Fold Telangiectasia was the abnormality most frequently seen." MRCPCH Localised scleroderma (majority of paediatric cases) - morphea: thickened shiny pale skin then darkens as resolves with loss of subcut tissue, either as single or multiple patches - linear: thickened plaque which cause loss of subcut tissues and contractures over joints and loss of bone growth, either face/forehead/scalp (en cup de sabre) or limb (en bande) Diffuse (systemic, CREST (calcinosis cutis, Raynaud phenomenon, oesophageal hypomobility, sclerodactylyl, telangiectasia) - rare in childhood - develop tightening of skin of hands, feet and face - resp/GI/renal disease Other options are associated with Raynaud's but don't cause nail fold telangiectasia. Primary Raynaud’s phenomenon (or Raynaud’s disease, or just Raynaud’s) is the most common form of Raynaud’s phenomenon. It affects more women than men, generally under the age of 30. If you have a family member with primary Raynaud’s, you’re more at risk of developing it. Primary Raynaud’s phenomenon is referred to as ‘idiopathic’ because there is no clear underlying cause. It’s often so mild that the person never seeks medical attention. Secondary Raynaud’s phenomenon is generally more complex and serious than primary Raynaud’s. The most common causes of secondary Raynaud’s are underlying autoimmune disorders such as rheumatoid arthritis, scleroderma and systemic lupus erythematosus (SLE or lupus).

Answer 100

E - the enteral nutrition. Refeeding syndrome. MRCPCH Refeeding syndrome is a potential metabolic complication in any malnourished patient which can happen with enteral or parenteral nutrition, as a consequence of severe fluid and electrolyte shifts, potentially leading to cardiac dysrhythmias. The greatest vigilance is especially required in the first week of feeding. Patients should have feeds gradually introduced over 48 hours, with careful monitoring of electrolytes. RFs: One of: - BMI<16 - weight loss >15% in 3-6mo - >10 days with little or no nutritional intake - low mag, phos, potassium before feeding 2+ of: - BMI<18 - weight loss >15% in 3-6mo - >5 days little-no nutrition - alcohol misuse, diuretics, antacid, insulin use, chemotherapy

Answer 101

A - infradiaphragmatic TAPVR 22q11 = Di George/velocardiofacial syndrome MRCPCH Heart defects with Di George: - conotruncal anomalies - common arterial trunk - interrupted aortic arch - TOF - VSD

Answer 102

E - long QT syndrome Cardiac rhythm disorder characterised by prolonged ventricular repolarisation. Results in increased risk of polymorphic ventricular arrhythmias (TdP) which can deteriorate into VF. 50% congenital 50% acquired. Inherited - caused by mutations in genes associated with cardiac potassium, sodium, and calcium channels - most commonly potassium channel Acquired - usually drugs (anti-infective, anti-psychotics, antiarrhythmics, antineoplastics, anti-depressants, antifungals, antihistamines) Triggered by exertion, emotional events, stress, noise ii. LQT1 – attacks during exercise/ swimming, broad based T waves iii. LQT2 – response to sudden noise, low amplitude T waves iv. LQT3 – attacks during rest/ sleep Treat with beta blocker e.g. propranolol

Answer 103

A - IV pyelogram History/stem is classic for an ectopic ureter. ?Outdated. Uptodate and Nelsons seem to suggest MCUG as the next investigation after USS. Uptodate: Renal ultrasound is the initial diagnostic test. Computed tomography (CT) and magnetic resonance imaging (MRI) with contrast is helpful, especially in suspected cases of ectopic ureters and a normal ultrasound. A voiding cystourethrogram (VCUG) should be performed when the diagnosis of an ectopic ureter is considered. Nelsons: A ureter that drains outside the bladder is referred to as an ectopic ureter. This anomaly is three times as common in females as in males and usually is detected prenatally. The ectopic ureter typically drains the upper pole of a duplex collecting system (two ureters). In females, approximately 35% of these ureters enter the urethra at the bladder neck, 35% enter the urethrovaginal septum, 25% enter the vagina, and a few drain elsewhere. Often the terminal aspect of the ureter is narrowed, causing hydroureteronephrosis. With the exception of the ectopic ureter entering the bladder neck, in females an ectopic ureter causes continuous urinary incontinence from the affected renal moiety. UTI is common because of urinary stasis. In males, ectopic ureters enter the posterior urethra (above the external sphincter) in 47%, the prostatic utricle in 10%, the seminal vesicle in 33%, the ejaculatory duct in 5%, and the vas deferens in 5%. Consequently, in males, an ectopic ureter does not cause incontinence, and most patients present with a UTI or epididymitis. Evaluation includes a renal US, VCUG, and renal scan, which demonstrates whether the affected segment has significant function. The US shows the affected hydronephrotic kidney or dilated upper pole and ureter down to the bladder. If the ectopic ureter drains into the bladder neck (female), a VCUG usually shows reflux into the ureter. Otherwise, there is no reflux into the ectopic ureter, but there may be reflux into the ipsilateral lower pole ureter or contralateral collecting system. Treatment is surgical, either reimplantation or nephrectomy depending on function.

Answer 104

D - TS MRCPCH: TS id dominantly inherited with variable expression. Characterised by skin and CNS abnormalities, although there may be cardiac, renal and bony anomalies as well. Two mutant genes: TSC1 (9p34) and TSC2 (16p). Features: - Seizures - Neurodevelopmental impairment - Cutaneous: adenoma sebaceum, periungal fibromas, hypopigmented patches, Shagreen patch - Retinal hamartomas - Renal angiolipomas - Cardiac rhabdomyomas Brain imaging may reveal cortical tubers and subependymal nodules with calcification. Others: NF: NF1 17q11.2. 2+ of: 6+ CALM (>5mm prepubertal >15mm post), 2+ neurofibromas or 1+ plexiform neurofibroma, axillary or inguinal freckling, optic glioma, 2+ iris hamartomas (Lisch nodules), typical osseous lesions such as sphenoid dysplasia, first degree relative affected. Neuro manifestations: macrocephaly, learning disability, epilepsy, optic gliomas. NF2 22q11.2. Bilaterally acoustic schwannoma/neurofibroma. Fabry disease: X linked sphinglipidosis. Alpha galactosidase deficiency -> storage of glycolipids in blood vessel walls, heart, kidney, spinal ganglia. Sx: pain in extremities, angiokeratoma, corneal opacities, cardiac disease, cerebrovascular disease, nephropathy, NORMAL INTELLIGENCE. Lesch-Nyhan: X linked disorder of purine metabolism caused by hypoxanthine-guanine phosphoribosyl-transferase deficiency. Features: Motor (hypotonia, dystonia, choreothetosis, spasticity, bulbar disorder), FTT, hyperuricaemia (stones, nephropathy, gout), compulsive self-injury***, cognitive impairment.

Answer 105

C - OCD Different stem but answers covered in another card.

Answer 106

A - anticipation Myotonic dystrophy. Autosomal dominant triple repeat disorder with mutant RNA expansions causing toxicity. Anticipation. DM1 and DM2 (milder). History implies worsening severity through generations, i.e. maternal grandmother just having cataract surgery and an old-ish age, mother with lack of facial animation, this patient with foot deformities etc. DM1: Congenital – hypotonia, facial diplegia, poor feeding, arthrogryposis, respiratory failure, polyhydramnios, reduced fetal movements Childhood – intellectual impairment, arrhythmias, cardiomyopathy, heart failure Classic (20-40yo) – skeletal/respiratory mm. weakness, myotonia, cataracts, arrhythmias, somnolence Mild (20-70yo) – mild weakness, myotonia, cataracts Primary hypogonadism Insulin hypersecretion IBS like symptoms Hearing loss

Answer 107

C - GAS infection. AAFP and dermnet Perianal streptococcal dermatitis is a bright red, sharply demarcated rash that is caused by group A beta-hemolytic streptococci. Symptoms include perianal rash, itching and rectal pain; blood-streaked stools may also be seen in one third of patients. Perianal streptococcal dermatitis affects children, usually in the age range of 6 months to 10 years, with a male predominance (4:1). Perianal streptococcal dermatitis presents with sharply demarcated redness, local swelling, and itch of the area around the anus. Symptoms may also include pain on passing a bowel motion, constipation, cracks in the anus, and discharge of pus and/or blood from the rectum. It may be accompanied by inflammation of the vulva and vagina (vulvovaginitis) in girls or end of the penis (balanitis) in boys. Perianal streptococcal dermatitis is a clinical diagnosis confirmed by taking a swab for bacterial culture. A rapid streptococcal test may provide a quicker result. Perianal streptococcal dermatitis is usually treated with oral penicillin for 14 days. Amoxicillin and clarithromycin are alternatives. A repeat course of antibiotics is sometimes required.

Answer 108

D - platelet concentrate CDC: For the past several years, bacterial contamination of platelets has been the greatest transfusion-transmitted infectious risk in the United States; this risk has been significantly higher than the risk of transfusion-transmitted viral infection. Bacterial contamination of platelet components occurs because the storage temperature for platelets (22° C) may facilitate bacterial growth. Approximately 1 in 1,000-3,000 platelet units may be contaminated with bacteria. Transfusion-transmitted sepsis has been recognized and culture-confirmed in at least 1 of 100,000 recipients, and has led to immediate fatal outcome in 1 in 500,000 recipients. The actual risk of transfusion-associated sepsis is likely higher, as infections due to contaminated blood products are under-reported.

Answer 109

E - T ALL Radiopedia Leukemia testicular manifestations, or testicular leukemia, can be seen in patients during and after acute leukemia. The blood-testis barrier limits chemotherapy from reaching the testis, and therefore the testis can act as a sanctuary for leukemic cells. - typically presents with painless testicular enlargement - most commonly appears 2-3 years following primary disease but recurrence has been reported up to 19 years post initial diagnosis Uptodate: In 5 percent of boys with acute lymphoblastic leukemia, the testis is involved either at presentation or as a site of relapse following initial successful induction therapy.

Answer 110

A - cessation of marijuana Uptodate (insomnia in patients with a substance use disorder) Independent insomnia treatment should generally be initiated during recovery from substance abuse; patients who are actively abusing substances should be referred for substance treatment first. At least one month should pass after substance cessation to eliminate acute withdrawal as the primary cause of insomnia symptoms. Specialists in addiction medicine are reluctant to prescribe sleep medications in patients with a substance use disorder, and benzodiazepine agonist hypnotic medications should generally be avoided because of the increased likelihood of abuse and potential for overdose when mixed with alcohol or other substances. Of the remaining pharmacologic options, there is no single best drug or class of drugs.

Answer 111

B - Chlamydia trachomatis (age/incubation period is the key) Uptodate Pneumonia is an important cause of neonatal infection and accounts for significant morbidity and mortality, especially in developing countries. ●Early-onset pneumonia – Early-onset pneumonia is variably defined as within 48 hours to six days of birth. ●Late-onset pneumonia – Late-onset pneumonia is generally defined as onset of symptoms at ≥7 days of age. •C. trachomatis has a long incubation period and typically is associated with pneumonia occurring beyond two weeks of age. Group B streptococcus and Escherichia coli account for the majority of cases of bacterial pneumonia in neonates.

Answer 112

B - benign premature adrenarche MRCPCH Adrenarche: Adrenal androgens, dehydroepiandrosterone sulphate (DHEAS) and androstenedione, rise approximately 2 years before gonadotropins and sex steroids rise. Adrenarche begins at 6-8 years of age and continues until late puberty, Control of this is unknown. Adrenarche does not influence onset of puberty. Precocious puberty = puberty onset <9 years in boys and <8 years in girls. The first sign of puberty in girls is the appearance of breast bud and breast development, and in boys it is testicular enlargement (4mL). This girl has Tanner stage 1 breasts i.e. pre-pubertal -> not precocious puberty. Idiopathic precocious puberty is central/gonadotropin dependent early onset puberty, i.e. normal puberty starting early, as opposed to CNS tumour etc. It is due to premature activation of the GnRH pulse generator. In girls, usually no underlying cause is found but in boys it is almost always pathological. CAH - causes virilisation, precocious puberty in males, causes ambiguous genitalia. Would expect elevated 17-hydroxyprogesterone (metabolite upstream of deficient enzyme) and excess androgens. Adrenal tumour - presumably excess androgens. PCOS - excessive androgen production by ovaries, especially testosterone. Leads to virilisation, hirsutism, acne, oligo/amenorrhoea. Insulin resistance/obesity. Polycystic ovaries.

Answer 113

C - serum copper levels MRCPCH Menkes disease (kinky hair disease) Uncommon X-linked disorder. Low copper and low ceruloplasmin. MNK gene on Xq13.3. Features - onset neonatal period or early infancy - hypothermia, poor weight gain - sparse and brittle hair - progressive cerebral infarction occurs leading to seizures and neurological impairment - diagnosis confirmed by biochemical or genetic means or by hair examination - death in first 2 years

Answer 114

E - moderate drowsiness GCS 10 RCH CPG Contraindications Absolute - GCS <8 or deteriorating/fluctuating level of consciousness - Signs of raised intracranial pressure (ICP): diplopia, abnormal pupillary responses, decerebrate or decorticate posture, low HR + elevated BP + irregular respirations, papilloedema - A bulging fontanelle in the absence of other signs of raised ICP is not a contraindication Relative - Septic shock or haemodynamic compromise - Significant respiratory compromise (eg apnoeas in a baby) - New focal neurological signs or seizures - Seizure within previous 30 min +/- normal conscious level has not returned following a seizure - INR >1.5 or platelets <50 or child on anticoagulant medication

Answer 115

E - Oesophageal atresia MRCPCH Clinical features - polyhydramnios*** - excessive salivation - early respiratory distress - abdominal distension - vomiting/choking on feeds - inability to pass NGT - absence of gas in gut on radiographic if no TOF*** - prematurity common - other anomalies (VACTERL)

Answer 116

B - 2% RCH CPG: Risk factors for developing subsequent epilepsy include: - family history of epilepsy - any neurodevelopmental problem - prolonged or focal febrile seizures - febrile status epilepticus No risk factors: 1% risk of developing epilepsy (similar to population risk) Risk increases with more risk factors, up to 10%

Answer 117

D - isolated speech delay

Answer 118

D - sarcoidosis MRCPCH Sarcoid Extremely rare in childhood Multisystem granulomatous disease, may be confused with TB and chronic granulomatous disease. Symptoms - dry cough, dyspnoea - exam often unremarkable - CXR: hilar lymphadenopathy, patchy lung infiltrates, may be a/w extrapulmonary disease (Skin, eye, kidney, gut) - usually diagnosed with biopsy - may be self limiting, treat with steroid +/- hydroxychloroquine if required - if CNS involvement cranial nerves most common - liver granulomata common (via osmosis -> adults) - polyclonal hypergammaglobulinaemia and monocytosis High calcium and high ACE on bloods

Answer 119

A - achondroplasia The malfunction of FGF/FGF receptor (FGFR) signaling axis is observed in a variety of human diseases, such as congenital craniosynostosis and dwarfism syndromes, as well as chronic kidney disease (CKD), obesity, insulin resistance, and various tumors.

Answer 120

C - IV drug use

Answer 121

B - benzylpenicillin. Essentially the mechanism for resistance is not production of beta-lactamase, but altered penicillin binding proteins. Uptodate Beta-lactam antibiotics inhibit pneumococcal growth by irreversibly binding the active site of enzymes that are needed to synthesize peptidoglycan, the major constituent of the cell wall. When penicillin-susceptible pneumococci are incubated with low concentrations of radiolabeled penicillin and then subjected to protein electrophoresis and radioautography, five distinct bands, each representing a different enzyme that contributes to cell wall synthesis, are detected. These enzymes are often called "penicillin-binding proteins." In strains that have reduced susceptibility to penicillin, the affinity of the antibiotic for one or more of these enzymes is reduced; incubation with low concentrations of penicillin, followed by radioautography, detects reduced or absent labeling of one or more of the five bands. However, labeling can generally be restored at higher antibiotic concentrations.

Answer 122

C - prolonged potassium efflux

Answer 123

D - raised free T3. T3 production is predominantly peripheral, and this is reduced during illness. In general, picture resembles central hypothyroidism (low TSH, low T4, low T3). Sick thyroid syndrome refers to the scenario of a variety of abnormalities on thyroid function testing in an unwell patient that spontaneously resolves as the illness improves. Usually there is normal free T4 and increased TSH. Osmosis Central hypothyroidism due to severe illness. Patients are still thought to be euthyroid. Uptodate Many hospitalized/ill patients have patterns of thyroid function that are similar to patients with central hypothyroidism: low or low-normal serum total T4, low T3 concentrations, and low, low-normal, or normal TSH. It is possible that these changes in thyroid function during severe illness are protective in that they prevent excessive tissue catabolism. Some hospitalized patients have transient elevations in serum TSH concentrations (up to 20 mU/L) during recovery from severe nonthyroidal illness. The majority of hospitalized patients have low serum T3 concentrations, as do some outpatients who are ill. Unlike T4, which is produced solely within the thyroid, 80 percent of circulating T3 is produced by the peripheral 5'-deiodination of T4 to T3, a reaction catalyzed by 5'-monodeiodinases (D1 and D2) in organs such as muscle, liver, and kidney. 5'-monodeiodination decreases whenever caloric intake is low and in any nonthyroidal illness, even when mild.

Answer 124

A - IgA IgA has been shown to activate the alternative pathway in vitro. The Fab fragment of immobilized human IgA can activate C3 in alternative pathway–specific conditions. In general, IgM/IgG antibody-antigen complexes stimulate the classical complement pathway. Pathogens directly stimulate the alternative pathway (this pathway is also constantly turning over). Mannose binding lectin pathway unclear significance.

Answer 125

E - spontaneous pre-term onset of labour

Answer 126

C - A 'v' shaped indentation of the hymenal margin at five o'clock to the vaginal wall

Answer 127

D - t(9;22) See other flashcard with similar question. Hyperdiploidy good prognostically Age 1-10 good WCC <50 good

Answer 128

C - motor incoordination AMH: Most adverse effects are dose-dependent. Common (>1%) nausea, diarrhoea, dry mouth, loss of appetite, weight loss, anxiety, irritability, insomnia, headache***, dizziness, aggression, tachycardia, palpitations, changes in BP (usually increases in adults) Infrequent (0.1–1%) movement disorders, tics***, rash, growth retardation (below) Rare (<0.1%) psychosis (worsens previous conditions e.g. depression), liver dysfunction, Raynaud’s phenomenon Growth Some children may have diminished growth velocity and weight loss during psychostimulant treatment. Monitor weight and height, and if concerned, use drug-free holidays or another therapy.

Answer 129

D - 2 days prior to all spots crusted MRCPCH Incubation: 11-24 days Transmission: Direct contact, droplet, airborne, infectious from 24 hours prior to rash until all spots have crusted over (approximately 7-8 days) PW prodrome of fever and malaise, rash appears in crops, papular then vesicular and itchy, usually start on trunk and spread centripetally, crops continue to appear for 3-4 days and each rusts after 24-48 hours. Cx: secondary bacterial infection (GAS), thrombocytopenia with haemorrhage, pneumonia, purpura fulminans, post infectious encephalitis Dx: clinical, viral culture, serology, PCR Rx: supportive

Answer 130

E - RBBB RBBB is a common complication of TOF repair. RBBB delays both the electrical depolarisation of the RV and the ventricular contraction, resulting in delayed closure of the pulmonary valve. Google search: The electrocardiographic pattern of right bundle branch block (RBBB) is routinely observed after transatrial repair of tetralogy of Fallot even though no ventriculotomy has been performed. This study shows that RBBB after transatrial repair of tetralogy of Fallot is usually produced by infundibular resection, but not by VSD closure, and is associated with delayed activation of the pulmonary outflow tract and base of the right ventricle which results from damage to portions of the right ventricular conduction system. Another abstract: The electrocardiographic (ECG) pattern of right bundle-branch block (RBBB) occurs routinely in patients after open-heart surgery for tetralogy of Fallot (TF). It can be concluded that the RBBB pattern seen postoperatively in patients with TF is due to changes in right ventricular activation secondary to the vertical ventriculotomy.

Answer 131

D - provision of reduced folates for nucleic acid synthesis

Answer 132

E - vincristine Less emetogenic and marrow suppressive than other chemotherapeutics.

Answer 133

E - 1 in 1 million

Answer 134

E - subglottic stenosis ?Fixed Airway Obstruction (Intrathoracic/ Extrathoracic) ● Description o Constant degree of obstruction during entire respiratory cycle ● Flow volume loop = flattened on inspiration and expiration ● Causes o Glottic/ subglottic lesions typically due to fixed airways size (cartilage) o Examples = tracheal stenosis, post intubation stricture, subglottic haemangioma, tumour, goitre, vascular ring, endobronchial tumour, bilateral vocal cord paralysis

Answer 135

C - 4.5 years. Stem is essentially saying the child is average for development (50th centile). MRCPCH Milestones 4 years: draws man with 3 parts 5 years: draws man with 6 parts

Answer 136

E - two base pair deletion with an exon A and D shouldn't affect anything. B may change an AA but more likely to create slightly misfolded protein or might end up with some protein if silent mutation. C maintains reading frame, likely to be missing one AA. E is a frameshift mutation and likely to completely alter the end product or create a premature stop codon.

Answer 137

C - poor metaboliser with reduced activity of cytochrome P450 2D6.

Answer 138

E - short stature at school entry. If organic cause, can be adequately treated as lots of remaining growth potential. Amblyopia - probably too late at school entry, MRCPCH book says optical correct must be made early, and intervention is rarely affective after 8 years of age. Scoliosis in adolescent girls - not treatment pre-symptomatically/pre-emptively as may cause no issues. Conductive deafness at school entry - ?too late Impaired colour vision at school entry - ?wouldn't treat anyway

Answer 139

C - peanut

Answer 140

C - sciatic. The absent ankle jerk and lack of sensory abnormality is the key. Common peroneal/fibular has sensory involvement of the lateral calf and doesn't affect reflexes. Alisons' notes: ``` Sciatic - nerve roots: L4, 5, S1, 2, 3 - divisions: Anterior and posterior • motor: Hamstrings (tibial component supplies all but the short head of biceps) and ischial fibres of adductor magnus - sensation: NIL ``` Ankle jerk = L1+2 / tibial nerve Peroneal/fibular nerve palsy: 1. Examination a. MOTOR i. Gait = foot drop ii. Motor 1. Weak dorsiflexion 2. Weak eversion 3. [NORMAL inversion] b. SENSORY i. Loss of sensation over upper, lateral calf 5. MAIN DDX = L5 nerve root lesion a. This will result in weakness of i. Dorsiflexion ii. Inversion iii. Eversion b. Sensory loss i. Lateral leg ii. Dorsum of foot 6. Causes of a foot drop a. Common peroneal nerve palsy b. Sciatic nerve palsy c. Lumbosacral plexus lesion d. L4, L5 root lesion e. Peripheral motor neuropathy f. Distal myopathy g. MND h. Precentral gyrus lesion i. Spinal cord lesion

Answer 141

E - VQ imbalance. As below, hypoventilation affects both, diffusion disorder and shunts are not related to OSA. Alison's notes: 1. Hypoxaemia a. HYPOVENTILATION i. If alveolar ventilation is low = alveolar PaO2 ↓ and CO2 ↑ iv. Common causes = drugs, damage to chest wall, high resistance to breathing b. DIFFUSION LIMITATION i. Can impair oxygenation if there is thickened blood-gas barrier c. SHUNT vi. Does NOT improve with 100% oxygen viii. Does NOT raise CO2 - chemoreceptors respond to elevated arterial PCO2 and increase ventilation to excrete it d. V/Q mismatch i. Reduced efficacy of gas exchange ii. O2 affected more than CO2 1. Hyperventilation can correct the reduced elimination of CO2 2. Hypoxaemia cannot be imported by increase in ventilation 2. Hypercapnoea a. Hypoventilation b. V/Q inequality

Answer 142

E - vincristine Alison's notes: Vincristine Associated Neuropathy 1. Key points a. Vincristine treatment is limited by a progressive sensorimotor peripheral neuropathy b. Exact mechanism not known c. Experienced by nearly all children who have vincristine treatment 3. Manifestations a. In most cases VIPN progresses distally to proximal - signs and symptoms often first appear in the toes and feet b. Earliest feature = paraesthesia of fingertips and feet +/- muscle cramps

Answer 143

A - auditory brainstem response. Baby hearing assessed by ABR and OAE. Jaundice induced hearing loss will be an auditory pathway/CNS issue. OAE does not assess neural pathway. MRCPCH ABR - measures integrity of inner ear and the auditory pathway - stimulus is presented using earphones or ear canal probe, electrophysiological response from brain stem is detected by scalp electrodes OAE - measures function of inner ear - probe placed in ear canal generates clicks, energy produced is detected by a microphone within the probe, detects vibration of hair cells in cochlea in response to noise - quick to perform - only assess function of ear, no assessment of neural pathway Other tests used for older children e.g. 2-3 years old.

Answer 144

B - bipolar disorder

Answer 145

E - umbilical artery pH of less than 7 at birth. Other answers could have other causes aside from hypoxia, whereas pH is likely to reflect oxygenation/ischaemia.

Answer 146

B - facial nerve The facial nerve is responsible for closing the eyes by contracting the orbicularis oculi muscle. Hence Bell's palsy being unable to close eye and needing eye care.

Answer 147

C - 24 hours Half-lives of these clotting factors are as follows: Factor II - 60 hours, VII - 4 to 6 hours, IX - 24 hours, and X - 48 to 72 hours.

Answer 148

C - endotoxemia

Answer 149

E - the template for a messenger RNA molecule. Complementary DNA (cDNA) is a DNA copy of a messenger RNA (mRNA) molecule produced by reverse transcriptase, a DNA polymerase that can use either DNA or RNA as a template.

Answer 150

C - TMP/SMX to treat PJP. MRCPCH Pneumocystis jiroveci pneumonia (PCP/PJP) is a fungal infection. Presentation - acute or insidious with tachypnoea, respiratory distress, fever, +/- cough, bilateral crackles and hypoxia - often normocapnic in early stages CXR - classically bilateral interstitial or alveolar shadowing - may be normal, unilateral or focal DX: usually requires BAL Think: SCID, HIV, DiGeorge, CD40L deficiency Rx - high dose TMP/SMX

Answer 151

E - erythromycin See previous card. Erythromycin is an inhibitor of CYP-450 enzymes -> reduced metabolism of things like carbamazepine, thereby increasing the levels.

Answer 152

A - pH 7.2 reducing sugars 0.25% total sugars 2% Diagnosis: sucrase-isomaltase deficiency MRCPCH This is a defect in carbohydrate digestion, with the enzyme required for hydrolysis of sucrose and alpha-limit dextrins not present in the small intestine. Symptoms of water diarrhoea and/or faltering growth develop after the introduction of sucrose or complex carbohydrate into the diet. Symptoms can be very mild. Reducing substances in the stool are negative (non-reducing sugar). Dx is via stool chromatography. Rx is by removal of sucrose and complex carbohydrates from the diet. Reducing substances: Reducing substances are not normally present in urine and faeces. This test will detect the presence of reducing sugars, eg glucose, lactose, maltose, fructose and galactose.

Answer 153

E - thorough suctioning of the oropharynx before the first breath. Outdated, current recommendation is essentially to suction with care only briefly before commencing regular resuscitation if necessary. If baby vigorous, nothing needed. Routine intubation/suctioning is not recommended. QLD health website: Mec Liquor: ``` Vigorous baby (breathing, crying and with good muscle tone) routine - endotracheal tube (ETT) suction is discouraged as it provides no benefit and may cause harm ``` · Depressed baby (low tone, not breathing or crying, low heart rate) routine ETT suctioning is not recommended as it is not supported by available evidence o In all meconium-exposed babies, the priority is to establish effective aeration of the lungs § In the depressed baby do not hesitate to commence appropriate resuscitation manoeuvres as are needed · Carefully assess the baby exposed to meconium in amniotic fluid: o Increased risk of needing resuscitation and for later complications

Answer 154

C - cerebral oedema

Answer 155

D - poor head growth starting after 6 months MRCPCH Rett syndrome: Syndrome of dementia, autistic behaviour and motor stereotypes seen in girls. Classic features: - normal perinatal period and normal 1st year - deceleration of head growth*** from ~9 months - loss of neurological skills - hand wringing - hyperventilation - gait apraxia - may develop scoliosis Diagnosis by genetic analysis/clinical.

Answer 156

A - allergen immunotherapy Uptodate Standard treatment modalities for the management of these patients are centered around the use of topical anti-inflammatory preparations and moisturization of the skin, but patients with severe disease may require phototherapy or systemic treatment. Allergen-specific immunotherapy (SIT) with dust mite extract in sensitized patients with atopic dermatitis has been studied using both subcutaneous immunotherapy (SCIT) and sublingual immunotherapy (SLIT) administration with conflicting results. Other options listed are for patients with mod-severe disease. Phototherapy — Narrowband ultraviolet B (NBUVB), broadband ultraviolet B (UVB), ultraviolet A1 (UVA1), or psoralens plus ultraviolet A (PUVA) radiation phototherapy are treatment options for moderate to severe atopic dermatitis. Cyclosporin/tacrolimus/pimecrolimus Methotrexate Azathioprine Dupilumab — We suggest dupilumab, rather than conventional immunosuppressant agents, for patients with moderate to severe disease unresponsive to topical therapy alone for whom phototherapy is not feasible or acceptable. Compared with conventional immunosuppressive agents, dupilumab has a favorable safety profile and may be used for long-term treatment of atopic dermatitis. However, cost may be a major consideration with dupilumab. Dupilumab is a fully human monoclonal antibody that binds to the alpha subunit of the interleukin (IL) 4 receptor and inhibits downstream signaling of IL-4 and IL-13, cytokines of type 2 helper T lymphocytes (Th2). Admitted interferon gamma not listed on uptodate. Google had some answers, but probably looks outdated by dupilumab now, as the postulated mechanism related to immune regulation and reducing things like IL-4.

Answer 157

D - staph aureus MRCPCH Orbital cellulitis is an uncommon but serious infection, which may give rise to ocular and septic intracranial complications. More frequent in children over 5 years of age. Over 90% of cases occur secondaryt o sinusitis, usually of the ethmoid sinus. Haemophilus influenzae type B is the most common organism during infancy, but other common organisms are staphylococci (causing abscesses***) and streptococci. Presentation: painful red eye and lid oedema, oncjunctival chemosis, injection and axial proptosis with limitation of eye movement. Child is pyrexial. Urgent treatment is needed to avoid cavernous sinus thrombosis. Treatment: Admission, BC, CT scan, ENT assessment. Systemic IV antibiotics.

Answer 158

B - maple syrup urine disease, as below. Isovaleric acidaemia should have marked acidosis and raised lactate. MCADD presents later (~15 months) and is hypoketotic, as it's a fat oxidation disorder OTC has resp alkalosis and higher ammonia. PKU presents later and predominantly with intellectual disability. MRCPCH MSUD results from a block in the degradation of the branched chain amino acids (leucine, isoleucine, valine) and belongs to the family of organic acidaemias. Features: - encephalopathy - seizures - sweet odour (especially nappy) Biochemical disturbance (acidosis, ketosis) may be minimal, so the diagnosis is often delayed with the illness frequently being attributed to sepsis. Intermittent forms may present at a later age, patients appearing entirely symptom free between bouts. Cerebral oedema is a well-recognised complication during acute episodes. Dx: - elevated BCAAs plus alloisoleucine - elevated BC oxo-acids on urinary organic acids - enzymology on fibroblasts Rx - lower protein diet - BCAA free supplement - valine and isoleucine may require additional supplementation because levels may fall too low while controlling leucine - trial of thiamine (enzyme cofactor) Others ``` Organic acidaemias (propionic, methylmalonic, isovaleric) - presentation: acute neonatal encephalopathy or chronic intermittent forms, dehydration, marked acidodis with raised anion gap, ketosis, neutropneia/thrombocytopenia d/t marrow suppression, progressive extrapyramidal syndrome, renal insufficiency, pancreatitis, cardiomyopathy ``` MCADD - most common fat oxidation disorder - featuers: hypoketotic hypoglycaemia, encephalopathy, hepatomegaly and deranged LFTs, mean age 15 months OTC (urea cycle defect) - features: vomiting, encephalopathy, tachypnoea (ammonia is a respiratory stimulant), progressive spastic diplegia and developmental delay - hyperammonaemia - X linked - respiratory alkalosis - A plasma ammonia concentration of 150 μmol/L or higher associated with a normal anion gap and a normal plasma glucose concentration is a strong indication of a UCD PKU - most common IEM - classic PKU: DD after first year, learning disability, behavioural problems, decreased pigmentation, dry skin

Answer 159

A - autoimmune haemolytic anaemia. Film showing spherocytes (only seen in AIHA and HS) and palpable spleen. Beta thal major presents in infancy with transition to adult Hb. Blood film goes against megaloblastic anaemia. TEC usually wouldn't have such severe anaemia and presumably film doesn't fit either. AIHA: Anaemia d/e immune destruction of RBCs by autoantibodies against surface antigens Warm = most common, warm because optimum temperature for antibody binding = normal body temperature 37 degrees, predominantly IgG. Site of destruction is the spleen (extravascular) by macrophages. Cold = optimum temperature below normal body temp (4 degrees), predominantly IgM, intravascular destruction by complement system. Others: Beta thalassemias — There are two beta globin genes (one inherited from each parent). Beta thalassemia is caused by reduced production of beta chains and accumulation of excess alpha chains. This may be due to variants that reduce the expression of beta globin (beta+) or completely eliminate beta globin expression (beta0). The severity of disease correlates with the amount of normal beta globin production. Terminology has shifted from using the "major, intermedia, minor" designation to transfusion-dependent or non-transfusion-dependent (previously major). These individuals have minimal to no beta globin chain production and consequently little to no HbA. Since the HbF to HbA transition occurs after birth, symptoms typically manifest during late infancy (approximately 6 to 12 months). Diamond-Blackfan anemia (DBA) is a congenital erythroid aplasia that classically presents in infancy. It is characterized by a progressive normochromic, usually macrocytic, anemia; congenital malformations (in approximately 50 percent of patients); and predisposition to cancer. DBA is a ribosomopathy caused by genetic mutations affecting ribosome synthesis. TEC is a transient or temporary red cell aplasia, distinguishing it from the chronic inherited condition, DBA. It is a self-limited anemia occurring in previously healthy children due to a temporary cessation of erythrocyte production. It is the most common cause of PRCA in children, and it is likely that many cases are subclinical. TEC should be suspected in an otherwise healthy child with anemia and reticulocytopenia. An extensive evaluation usually is not necessary, provided that the MCV is normal and the blood smear does not suggest a primary RBC disorder or malignancy.

Answer 160

B - cryptosporidiosis. See below. Infection despite IVIG replacement should prompt consideration for a combined immunodeficiency, rather than just humoral. CD4 counts <100 convey particular risk for crytosporidiosis. Uptodate Cryptosporidium is an intracellular protozoan parasite that is associated with gastrointestinal diseases in all classes of vertebrates including mammals, reptiles, birds, and fish. Along with Giardia, it is among the most common parasitic enteric pathogens in humans. The organisms infect and reproduce in the epithelial cells of the digestive or respiratory tracts. Infection is predominantly associated with diarrhea and biliary tract disease. The risk of severe and/or prolonged disease is increased in patients with cellular and humoral immune deficiencies (eg, HIV infection [particularly when the CD4 count is <100 cells/microL], organ transplantation, IgA deficiency, hypogammaglobulinemia, and receipt of immunosuppressive therapy). The illness usually resolves without therapy in 10 to 14 days in immunologically healthy people, although it can persist longer or relapse after initial improvement. In immunocompromised hosts (particularly those with T cell immunodeficiency), cryptosporidiosis can be a chronic debilitating illness with persistent diarrhea and significant wasting. Definition — CVID is defined by the following: ●Age-specific reduction in serum concentrations of immunoglobulin (Ig)G, in combination with low levels of IgA and/or IgM (at least two standard deviations below mean for age) ●Poor or absent response to immunizations and/or absent isohemagglutinins and/or low switched B cells (<70 percent of age-related normal value) ●Absence of profound T cell immunodeficiency (low CD4: <300 for 2 to 6 years, <250 for 6 to 12 years, <200 for >12 years; low naïve CD4 (CD45RA+): <25 percent for 2 to 6 years, <20 percent for 6 to 16 years, <10 percent for over 16 years of age; absent T cell proliferation) ●Absence of any other defined immunodeficiency state Evaluation of circulating T cells is not required for the diagnosis but can be useful in identifying patients at risk for more severe complications. Subsets of CVID (combined immunodeficiency) patients with low T cell numbers tend to experience more severe infectious complications. Evaluation of T cell numbers with CD3, CD4, and CD8 should be performed. T cells often decrease with time so that periodic assessment of T cell numbers is worthwhile, especially if the patient starts to have infections despite immune globulin replacement therapy. For these patients, one must consider if a form of combined immune defect is present. If T cell numbers are low, evaluation of cellular immunity in the form of lymphocyte proliferation studies may be useful in determining the need for prophylaxis of specific pathogens associated with combined immunodeficiency, such as Pneumocystis jirovecii.

Answer 161

C - normal baby. ASID guideline Overall risk of long term sequelae in a congenitally infected child is ~10–20%. Primary infection caries 30% chance of transmission - most (90%) asymptomatic, and of these 90% have no sequelae - 10% symptomatic, and of these 50% have no sequelae In reactivation, risk is <10% (1% risk transmission, 1% symptomatic).

Answer 162

E - socioeconomic status. RFs in MRCPCH book: ``` Male Broken home, disturbed relationships with parents Living alone Immigrant status Family history of affective disorder, suicide, alcohol abuse Recent loss or stress Previous suicide attempt Drug or alcohol addiction ```

Answer 163

B - arrange a conjoint meeting with the senior nurse and the mother

Answer 164

E - Fanconi anaemia. ``` Aniridia = WAGR (W = Wilms) BWS = overgrowth disorder, Wilms Hemihypertrophy = increased, as below, also a feature of BWS Cryptorchidism = ?Denys-Drash -> male pseudohermaphroditisim. Or just general renal/GUT anomalies as below. ``` Uptodate Fanconi anaemia - Fanconi anemia (FA) is an inherited bone marrow failure syndrome characterized by pancytopenia, predisposition to malignancy, and physical abnormalities including short stature, microcephaly, developmental delay, café-au-lait skin lesions, and malformations belonging to the VACTERL-H association. FA is an inherited disorder in which cells cannot properly repair a particularly deleterious type of DNA damage known as interstrand crosslinks (ICLs). Significant increase in LIQUID tumours: MDS and leukemia are common in patients with FA; in many cases, MDS or acute myeloid leukemia (AML) is the presenting finding. Patients with FA have been estimated to have a 6000-fold and 700-fold greater risk than the general population for developing MDS and AML, respectively. Also increased risk of solid tumours but much lower, and most common is squamous cell carcinoma. (Wilms) In approximately 10 percent of cases, Wilms tumor occurs as a part of a multiple malformation syndrome, including WAGR, Denys-Drash, and Beckwith-Wiedemann syndrome (BWS). WAGR syndrome — WAGR syndrome refers to the syndrome of Wilms tumor, aniridia, genitourinary anomalies, and intellectual disability (mental retardation). Children with this syndrome have a constitutional chromosomal deletion of the WT1 gene located at 11p13. The WT1 gene product is a transcription factor involved in both gonadal and renal development. Denys-Drash syndrome — The Denys-Drash syndrome (also called simply Drash syndrome) is a triad of progressive renal disease, male pseudohermaphroditism, and Wilms tumor. Beckwith-Wiedemann syndrome — Patients with BWS have a 5 to 10 percent chance of developing Wilms tumors. This disorder is caused by microduplication mutations in the 11p15.5 region, a site of a cluster of imprinting genes. The major clinical features of BWS include macrosomia, macroglossia, omphalocele, prominent eyes, ear creases, large kidneys, pancreatic hyperplasia, and hemihypertrophy. Isolated hemihypertrophy – The estimated risk for developing Wilms tumor in children with isolated hemihypertrophy is 3 to 4 percent. Isolated genitourinary abnormalities – Boys with Wilms tumor may have cryptorchidism or hypospadias, while 10 percent of girls with Wilms tumor have congenital uterine anomalies.

Answer 165

B - iron overdose. Presumably the toddler got a hold of somebody elses iron tablets, the little scamp. The x-ray seems key here, unlikely to ingest that many batteries (?) and generally batteries are only an issue in the oesophagus. Lead poisoning acutely seems to only cause renal issues. Mercury poisoning is neurological. MRCPCH Iron poisoning: severity is related to amount of elemental iron ingested. <20mg/kg toxicity unlikely, >60mg/kg significant, in between toxicity may occur. ``` First stage - hours - nausea/vomiting, abdo pain, haematemesis Second stage - 8-16 hours - apparent recovery Third stage - 16-24 hours - hypoglycaemia - metabolic acidosis Late stage - hepatic failure, 2-4 days ``` Treatment - plasma iron level - AXR: iron in stomach -> gastric lavage with desferrioxamine in lavage fluid, if in intestine then desferrioxamine orally and picolax, if not visible but >20mg/kg suspected ingestion, given desferrioxamine orally - parenteral desferrioxamine for >60mg/kg ingestion Lead poisoning - uncommon, often results from pica - acute = reversible renal Fanconi-like syndrome - chronic: FTT, abdominal upset, lead encephalopathy, glomerulonephritis and renal failure, anaemia Mercury poisoning (Osmosis): Symptoms may include muscle weakness, poor coordination, numbness in the hands and feet, skin rashes, memory problems, trouble speaking, trouble hearing, or trouble seeing. Most exposure is from eating fish, amalgam-based dental fillings, or exposure at work. In those with acute poisoning from inorganic mercury salts, chelation with either dimercaptosuccinic acid or dimercaptopropane sulfonate appears to improve outcomes if given within a few hours of exposure. Exposure in children may result in acrodynia, also known as pink's disease, in which the skin becomes pink and peels.

Answer 166

A - amoxycillin 1.2 PO 1 hour before procedure. ?Outdated. Doesn't look to have any indications as below. SA Health: Conditions requiring prophylaxis: >Prosthetic cardiac valve or prosthetic material used for cardiac valve repair > Previous infective endocarditis > Cardiac transplantation with the subsequent development of cardiac valvulopathy > Rheumatic heart disease in Indigenous Australians and individuals at significant socioeconomic disadvantage > Congenital heart disease, only if it involves: i) unrepaired cyanotic defects, including palliative shunts and conduits; ii) completely repaired defects with prosthetic material or devices, whether placed by surgery or catheter intervention, during the first six months after the procedure (after which the prosthetic material is likely to have endothelialised); OR iii) repaired defects with residual defects at, or adjacent to the site of a prosthetic patch or device (which inhibit endothelialisation). Recommended prophylaxis (RCH): Amoxicillin 50 mg/kg (2 g) Local anaesthetic: give orally 1 hour before procedure General anaesthetic: give IV with induction Penicillin hypersensitivity: substitute Amoxicillin with Cefalexin 50 mg/kg (2 g) oral Immediate or severe penicillin hypersensitivity: substitute with Clindamycin 20 mg/kg (600 mg) oral or IV

Answer 167

B - lamotrigine. Uptodate In a large multinational case-control study including 379 cases of SJS/TEN and 1505 controls, the following agents or groups of agents were most commonly implicated: ●Allopurinol ●Aromatic antiseizure medications and lamotrigine ●Antibacterial sulfonamides (including sulfasalazine) ●Nevirapine ●Oxicam nonsteroidal anti-inflammatory drugs (NSAIDs) In children, the medications most often associated with SJS/TEN are sulfonamide antimicrobials, phenobarbital, carbamazepine, and lamotrigine. ●Medications are the leading trigger of SJS/TEN in both adults and children. Allopurinol, lamotrigine, aromatic anticonvulsants, antibacterial sulfonamides, and "oxicam" or COX-2 inhibitor nonsteroidal anti-inflammatory drugs (NSAIDS) are most commonly implicated. Mycoplasma pneumoniae infection is the next most common trigger of SJS/TEN, particularly in children.

Answer 168

D - obliterative bronchiolitis. Adenovirus is the most common cause in immunocompetent hosts (50%). Alison's notes: 1. Key points a. Chronic obstructive lung disease of the bronchioles and smaller airways b. Results from an insult to the lower respiratory tract and leads to fibrosis of the small airways c. Terminology i. BOS = clinical entity that relates to graft deterioration after transplantation ii. BOOP/ Cryptogenic Organising Pneumonia (COP) = fibrosing lung disease that includes the histological features of BO with extension of the inflammatory process from distal alveolar ducts into alveoli and proliferation of fibroblasts These days asthma is unlikely to be diagnosed in this age group, and would be expected to respond to bronchodilators and steroids.

Answer 169

B - mother develops chickenpox 3 days before delivery. 3 days after delivery - no clear evidence to suggest risk of severe disease, plus presumed protection from maternal antibodies. Shingles -> protection from maternal antibodies, plus 5 days after delivery no clear evidence increased risk. 10 days prior is not within the window of increased risk (-7 - +2) and requires no ZIG. Sibling at home no clear evidence increased risk despite seronegativity. ASID Transplacentally acquired VZV is high-risk and severity reduced by ZIG. Maternal chickenpox 7 days before to 2 days after delivery -> ZIG. Opinions vary as to need to administer ZIG to term infants whose mothers develop chickenpox > 2 days after delivery, as there is limited evidence to suggest increased risk of severe disease even if mother VZV seronegative. Expert opinion is that if a mother has a history of a complete course of age-appropriate doses of VZV vaccine, she is considered immune and thought to confer protection to the newborn irrespective of measured antibody levels. Most experts would not recommend ZIG be given to the newborn in this setting. Opinions vary as to the need to administer ZIG to term infants of seronegative mothers who are exposed to chickenpox, as there is limited evidence to suggest increased risk of severe disease.

Answer 170

C - Leigh disease (mitochondrial disorder) Uptodate Mitochondrial diseases present with a wide range of clinical expression. Organ systems relying most on aerobic metabolism are preferentially affected and involvement of the nervous system is common. One of the hallmarks of mitochondrial disorders is multisystemic involvement. In patients with predominantly multisystem disease, there is a variable combination of central and/or peripheral nervous system involvement, ophthalmologic abnormalities, sensorineural hearing loss, gastrointestinal symptoms, cardiac, hepatic and renal disease, endocrine dysfunction, and growth failure (short stature). Affected patients are often quite disabled. Of these, Leigh syndrome and MELAS are the most common. Leigh syndrome — Leigh syndrome (subacute necrotizing encephalomyelopathy) typically presents in infancy or early childhood. It is characterized by developmental delay or psychomotor regression, ataxia, dystonia, external ophthalmoplegia, seizures, lactic acidosis, vomiting, and weakness. The pathologic hallmarks of Leigh syndrome are bilateral, symmetric necrotizing lesions with spongy changes and microcysts in the basal ganglia, thalamus, brainstem, and spinal cord. MELAS — The syndrome of mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) is a maternally inherited multisystemic disorder caused by mutations of mitochondrial DNA. The hallmark of this syndrome is the occurrence of stroke-like episodes that result in hemiparesis, hemianopia, or cortical blindness. Friedriech ataxia - The hereditary ataxias are a genetically heterogeneous group of diseases characterized by motor incoordination resulting from dysfunction of the cerebellum and its connections. Most cases of Friedreich ataxia are caused by loss of function mutations in the frataxin (FXN) gene located on chromosome 9q13. The great majority of patients have an expanded trinucleotide (GAA) repeat in intron 1 of both alleles of the FXN gene. The age of onset with Friedreich ataxia is usually in the adolescent years. Friedreich ataxia is the most common hereditary ataxia; it accounts for up to one-half of hereditary ataxia cases overall, and up to three-quarters of cases among individuals <25 years of age. The major clinical manifestations of Friedreich ataxia are neurologic dysfunction, cardiomyopathy, and diabetes mellitus. Batten disease - A neuronal ceroid lipofuscinosis. The neuronal ceroid lipofuscinoses (NCLs) are a group of lysosomal storage disorders characterized by progressive neurodegeneration and intracellular accumulation of autofluorescent lipopigment. he NCLs were originally diagnosed based on clinical features and ultrastructural abnormalities found with electron microscopy and were grouped into four classic forms: ●Infantile NCL (Haltia-Santavuori disease) ●Late infantile NCL (Janský-Bielschowsky disease) ●Juvenile NCL (Batten-Spielmeyer-Vogt disease, or simply Batten disease) ●Adult NCL (Kufs disease) The NCLs share features of a progressive clinical course with vision loss, dementia, epilepsy, movement disorders, and storage of ceroid lipofuscin in neurons. Metachromatic leukodystrophy - Metachromatic leukodystrophy (sulfatide lipidosis) (MLD) is a rare autosomal recessive lysosomal storage disease that causes progressive demyelination of the central and peripheral nervous system. Three major subtypes of MLD are primarily distinguished by the age at disease onset: ●Late infantile onset (age 6 months to 2 years) ●Juvenile onset (age 3 to <16 years) ●Adult onset (age ≥16) Peripheral neuropathy occurs in all forms and may be a presenting feature, particularly in the late infantile form. Gallbladder involvement is common with manifestations that include hyperplastic polyps and a probable increased risk of gallbladder carcinoma.

Answer 171

C - family therapy Conversion disorder Conversion disorder is defined as a symptom or deficit in voluntary motor function in patients without an anatomic or physiologic basis. In children, conversion disorder occurs more commonly in girls than boys and is most prevalent in children between the age of 10 to 15 years. Risk factors include prior sexual abuse and preexisting psychiatric disease (eg, anxiety, depression). In children, symptoms are most commonly related to motor function and often start after an emotional stress or minor injury. In most cases, a detailed history identifies domestic stress (eg, parental divorce), feelings of parental rejection, unresolved grief, and/or problems at school (eg, bullying, recent failure). Weakness is common in patients with conversion disorder, and unilateral, hemiparetic symptoms are most frequent. Physical examination often provides early diagnosis without extensive laboratory evaluation or ancillary studies. Key findings include reciprocal contraction during attempts to move apparently paralyzed muscle groups (ie, contraction of both agonist and antagonist muscles such as the biceps and triceps during strength training), presence of normal tendon reflexes in flaccid extremities, give-way weakness, or physically implausible presentations (eg, triparesis). Successful treatment involves early referral for psychiatric care and avoidance of extensive investigation for an organic cause.

Answer 172

A - decrease MAP, because the compliance of the lungs has now increased and the lungs are over inflated.

Answer 173

E - zinc deficiency. Distribution of rash is classic (periorofacial and perianal). Mother likely deficient due to Crohns (absorbed in small bowel). Breast milk also low in zinc usually. MRCPCH Zinc - dietary sources include beef, liver, eggs, nuts - deficiency occurs secondary to poor absorption rather than intake - clinical features include anaemia, growth retardation, periorofacial dermatitis, immune deficiency, diarrhoea - responds well to oral zine B12 - dietary sources include foods of animal origin, particularly meat - absorbed from terminal ileum, facilitated by gastric intrinsic factor - deficiency causes megaloblastic anaemia, low vitamin B12, and increased methylmalonic acid in urine - features include anaemia, glossitis, peripheral neuropathy, subacute combined degeneration of the cord and optic atrophy - causes include pernicious anaemia (rare in kids), poor intake (vegan), malabsorption - treat with B12 IM + folic acid The others are wrong because it's not the right rash. Only 2% of psoriasis occurs in children <2 years of age, this would be very unlikely.

Answer 174

B - cefotaxime Antibiotics effective against Pseudomonas (common ones***): ``` ticarcillin/clavulanate piperacillin/tazobactam*** ceftazidime*** ceftazidime/avibactam ceftolozane/tazobactam cefepime*** aztreonam ciprofloxacin*** levofloxacin delafloxacin imipenem/cilastatin meropenem*** meropenem/vaborbactam doripenem aminoglycosides[*] colistin cefiderocol imipenem/cilastin/relebactam ``` Other: Ertapenem is the only cabapenem that doesn't treat Pseudomonas Delafloxacin is the ONLY quinolone that can be used for both MRSA and Pseudomonas.

Answer 175

E - prepare for intubation MRCPCH Main issues to consider: - minimise exposure to heat, use tepid water - the airway can deteriorate rapidly and swelling can make intubation difficult, so early intervention and experienced airway help are necessary*** - shock in the first few hours is unlikely to be the result of the burn injury, consider other causes e.g. bleeding - fluid replacements are high and should be calculated from the time of injury - circumferential burns of the chest may restrict breathing, consult a burns surgeon - burns are a/w other injuries e.g. from jumping ouf of windows in house fires or explosions, so assess C-spine

Answer 176

E - Rh isoimmunisation. Baby may have hydrops fetalis given oedema, tachypnoea (?pleural effusions although CXR not provided). As below, causes anaemia, can also cause neutropenia and thrombocytopenia. CMV causes petechiae but wouldn't expect the rest, also usually IUGR. ParvoB19 causes hydrops, but with the stem saying Rh negative and 2 previous babies this is less likely. Galactosaemia should present later, with jaundice, hepatomegaly, coagulopathy, cataracts. LFTs should be deranged. ``` FETAL/NEONATAL CONSEQUENCES OF ALLOIMMUNIZATION ●Hemolytic disease of the fetus and newborn (HDFN) – Transplacental transfer of maternal antibody leads to HDFN. The severity of fetal anemia is influenced primarily by antibody concentration but also by additional factors that are not fully understood. These include the subclass and glycosylation of maternal antibodies; the structure, site density, maturational development, and tissue distribution of blood group antigens; the efficiency of transplacental IgG transport; the functional maturity of the fetal spleen; polymorphisms that affect Fc receptor function; and the presence of human leukocyte antigen (HLA)-related inhibitory antibodies. ●Hydrops fetalis – Hydrops fetalis (two or more of the following: skin edema, ascites, pericardial effusion, pleural effusion) in HDFN occurs when the fetal hemoglobin deficit is at least 7 g/dL below the mean for gestational age (consistent with a hematocrit less than approximately 15 percent or hemoglobin <5 g/dL). ●Thrombocytopenia and neutropenia – HDFN may also be associated with thrombocytopenia and neutropenia. The risk increases with increasingly severe anemia and is most common in hydropic fetuses [28]. In a systematic review, 11 to 26 percent of fetuses undergoing initial umbilical vein sampling because of D alloimmunization had platelet counts <150,000/microL. However, severe thrombocytopenia is uncommon and not significant enough to require a platelet transfusion at the time of intrauterine transfusion. The mechanism of thrombocytopenia may be decreased production due to increased production of red cells, but increased consumption or destruction of platelets has also been hypothesized. ```

Answer 177

E - triplet repeat studies. ?Congenital myotonic dystrophy MRCPCH Causes of polyhydramnios: - maternal diabetes - karyotype abnormalities - twin to twin transfusion syndrome - neuromuscular disorders such as: congenital myotonic dystrophy, SMA (types 1 and 0), congenital myopathies, Mobius syndrome - oesophageal atresia - congenital diaphragmatic hernia - idiopathic/unexplained Uptodate Myotonic dystrophy type 1 (DM1) results from an expansion of a cytosine-thymine-guanine (CTG) trinucleotide repeat in the 3'-untranslated region of the dystrophia myotonica protein kinase (DMPK) gene on chromosome 19q 13.3. DM is the most common muscular dystrophy among adults of European ancestry. The prevalence of DM ranges from 1 in 7400 to 1 in 10,700 in Europe. With CTG repeat lengths >1000, DM1 may manifest at birth with infantile hypotonia, respiratory dysfunction, and the emergence of intellectual disability. The congenital form of DM1 is characterized by profound hypotonia, facial diplegia, poor feeding, arthrogryposis (congenital joint contractures), especially of the legs, and respiratory failure. The majority of affected infants (at least 80 percent) have a characteristic "V" shape of the upper lip that results from facial diplegia. In addition to the profound hypotonia and facial weakness, physical examination also shows truncal and appendicular weakness as well as areflexia or marked hyporeflexia. Arthrogryposis usually involves at least the ankles, leading to clubfoot deformity. In some cases, DM1 may present before birth as polyhydramnios, talipes (clubfoot), and reduced fetal movement. In the most severely affected infants, polyhydramnios is common during pregnancy and is related to disturbance in swallowing; polyhydramnios in the mother usually indicates serious involvement of the fetus. Mechanical ventilation is required for 70 to 80 percent or more of patients. With intensive support, most infants survive the neonatal period, but the overall mortality rate is approximately 15 to 20 percent, and approaches 40 percent in severely affected infants.

Answer 178

E - IL 5 Interleukin-5 acts as a homodimer, and is essential for maturation of eosinophils in the bone marrow and their release into the blood. In humans, interleukin-5 acts only on eosinophils and basophils, in which it causes maturation, growth, activation, and survival. Wikipedia: Interleukin 5 (IL5) is an interleukin produced by type-2 T helper cells and mast cells. Through binding to the interleukin-5 receptor, interleukin 5 stimulates B cell growth and increases immunoglobulin secretion - primarily IgA. It is also a key mediator in eosinophil activation. Others: - GCSF/GMCSF: The GM-CSFR, more widely expressed than the G-CSFR, is present on neutrophils, monocytes, eosinophils, dendritic cells, basophils, and, possibly, B-cells, whereas the G-CSFR is expressed only on neutrophils and monocytes. Unlike granulocyte colony-stimulating factor, which specifically promotes neutrophil proliferation and maturation, GM-CSF affects more cell types, especially macrophages and eosinophils. - IL1: originates from macrophages and causes fever, achexia, angiogenesis, activates immune cells - IL2: originates from Th1 cells and causes proliferation of T cells and immune cell activation

Answer 179

C - Lesch-Nyhan disease. The perioral lesions must be self injury? MRCPCH An X-linked disorder of purine metabolism caused by hypoxanthine-guanine phosphoribosyl-transferase deficiency. Features - motor disorder (hypotonia initially, evolving dystonia or choreoathetosis + spasticity, bulbar disorder with speech and feeding difficulties) - poor growth - hyperuricaemia (Stones, nephropathy, gout) - compulsive self injury*** - cognitive impairment Others - Leigh disease covered on another slide. - Homocystinuria: Classically results from cystathione-beta-synthase deficiency and presents with Marfanoid features/habitus, ectopia lentis (downward/sideways), DD/low IQ, stiff joints, thrombosis, osteoporosis (can remember different to Marfans by thinking "down" e.g. lens down, IQ down, joint ROM down) - Menke and Wilson diseases are copper metabolism disorders

Answer 180

C - gastric lymphoma Uptodate H. pylori infection is strongly associated with peptic ulcer disease in children, as it is in adults. It is also associated with mucosa-associated lymphoid tissue (MALT) lymphoma (i.e. lymphoma arising from an extranodal source), chronic (but not acute) immune thrombocytopenic (ITP) purpura, and iron deficiency anemia that is refractory to treatment, based on low-quality evidence. These associations form the indications for testing in children. ●Mucosa-associated lymphoid tissue (MALT) lymphoma – Test all children with MALT lymphoma. Several case reports in children describe MALT lymphoma associated with H. pylori, which resolved after treatment of the infection, and similar cases have been described in adults. Although this is low-quality evidence, the potential benefit of this treatment is substantially higher than its risks. SUMMARY ●Approximately 36 and 47 percent of all gastric cancers in developed and developing countries, respectively, are solely attributable to H. pylori infection. This accounts for almost 350,000 gastric cancers annually worldwide. ●Several hypotheses have been proposed to explain the role of H. pylori in carcinogenesis, although the exact mechanism is incompletely understood. ●Multiple studies have demonstrated an association between H. pylori infection and mucosa-associated lymphoid tissue lymphoma (MALToma). The most dramatic evidence supporting a pathogenetic role for H. pylori in MALToma is remission of the tumor following eradication of H. pylori with antibiotic therapy.

Answer 181

C - non specific low back pain. See below, doesn't meet criteria for ERA or JAS. Would need to have inflammatory lumbosacral pain (opposite to his symptoms i.e. morning stiffness, relieved by activity), uveitis, or first-degree relative, or imaging changes. Uptodate Enthesitis related arthritis (ERA) is one of the categories of juvenile idiopathic arthritis (JIA) defined by the International League of Associations for Rheumatology (ILAR). ERA in children aged <16 years is defined as: ●Arthritis (persisting ≥6 weeks) and enthesitis (no specific duration required) OR ●Arthritis or enthesitis, as above, with two of the following additional criteria present: •Sacroiliac (SI) tenderness or inflammatory lumbosacral pain •Positive human leukocyte antigen HLA-B27 •Onset of arthritis in a male >6 years of age •Acute (symptomatic) anterior uveitis •First-degree relative with ERA, sacroiliitis associated with inflammatory bowel disease (IBD), reactive arthritis, or acute anterior uveitis Juvenile ankylosing spondylitis (JAS) is defined similarly, with one additional requirement of radiologic evidence of bilateral SI inflammation. Others: - Spondylolysis typically represents a fracture of the posterior arch in the lower lumbar spine due to overuse and is a relatively common cause of low back pain. Spondylolisthesis involves anterior displacement of a vertebral body due to bilateral defects of the posterior arch and is less common than spondylolysis. Fracture should be visible on x-ray (84%). - Scheuermann's disease is considered to be a form of juvenile osteochondrosis of the spine. Scheuermann kyphosis is a structural deformity of the thoracic spine. - Discitis refers to inflammation of the intervertebral disc. It is a rare cause of back pain in children. Discitis typically presents with the gradual onset of irritability and back pain, limp, or refusal to crawl or walk, without systemic toxicity; fever usually is absent or low grade.

Answer 182

C - truncus arteriosus Parks cardiology TA occurs in <1% of CHD. A single arterial trunk with a truncal valve leaves the heart and gives rise to the pulmonary, systemic, and coronary circulations. A large perimembranous, infundibular VSD is present directly below the truncus. Features - cyanosis may be seen immediately - CHF develops within days-weeks - varying degrees of cyanosis and CHF are present - peripheral pulses are bounding with wide pulse pressure, the precordium is hyperactive and apical impulse laterally displaced - a systolic click is frequently audible at the apex and LUSB - S2 is single - harsh systolic murmur (VSD)

Answer 183

A - carbamazeipine. AVOID in absence, myoclonic, idiopathic epilepsies. May also worsen benign rolandic/ occipital epilepsy. First line in partial seizures. Alison's notes, random bits pulled re carbamazepine * Carbamazepine WORSENS absence epilepsy * Wary about using carbamazepine in patients with generalised epilepsy * Focal epilepsy (lesional, not idiopathic) – can us carbamazepine * Benign rolandic and benign occipital – carbamazepine can sometimes worsen these seizures, only use in low doses * Carbamazepine worsens idiopathic seizures Carbamazepine has the potential to precipitate or aggravate seizures in: - Generalized-onset tonic-clonic seizures in children and adults - Absence seizures in children - Absence seizures, myoclonic seizures, and in some cases generalized-onset tonic-clonic seizures in patients with juvenile myoclonic epilepsy

Answer 184

D - sleep association disorder Google Sleep-onset association disorder is a condition in which a child associates their ability to fall asleep with something in their environment or even a person. Examples of these associations include being held, rocked or nursed, and eating or drinking prior to bed. RACGP: Sleep problems can be medical (eg obstructive sleep apnoea, night waking due to ear infections) or behavioural in origin, the latter being the most common in children. Behavioural sleep problems include difficulties falling asleep at the start of the night, frequent night waking, early morning waking or a combination of these. The way a child falls asleep at the start of the night is the way they expect to go back to sleep when they naturally wake up overnight. Thus, if the last thing a child remembers is being rocked or fed to sleep, they will want to be rocked or fed back to sleep when they wake naturally overnight. This ‘sleep association’ forms the basis of a very common sleep problem in children – behavioural insomnia of childhood, sleep-onset-association type. Other common problems include: - behavioural insomnia of childhood, limit-setting type – parents have problems setting limits around bedtime and the child repeatedly comes out of their room or protests delayed sleep phase – the child goes to bed late and sleeps in during the morning unless woken by their parents - anxiety-related insomnia – the child takes 30 minutes or more to fall asleep, worrying about something as they do so - physiological insomnia – the child takes 30 minutes or more to fall asleep but is not worried or coming in and out of their room. Obstructive sleep apnoea (OSA) can also affect infants and children, particularly preschoolers, when the tonsillar and adenoid tissue is relatively large, compared with the airway. OSA presents as persistent snoring with a period of apnoea followed by gasping, and may be associated with daytime tiredness, mouth breathing and behavioural difficulties.

Answer 185

A - coronary artery fistula Acyanotic continuous murmur at birth. PDA not expected to be heard immediately as needs difference in vascular resistance between pulmonary and systemic systems. Becomes more obvious over the initial days of life. PFO shouldn't cause a murmur, same physiology as ASD (may eventually cause pulmonary flow murmur). TOF causes a murmur at birth but not continuous.

Answer 186

A - botulism. ?Facial/pupil involvement key. Uptodate: The diagnosis of infant botulism should be suspected in any infant with acute onset of weak suck, ptosis, inactivity, and constipation. MCRPCH Botulism is caused by a botulinum toxin, produced by the bacterium Clostridium botulinum - anaerobic and common in the soil in the form of spores. Food borne botulism occurs from the botulinum toxin, which is destroyed by the normal cooking process. Features - neuroparalytic disorder - food borne: onset is abrupt w/i 12-36 hours of exposure, with symmetrical descending flaccid paralysis, typically involving bulbar musculature initially, with most cases recovering - the neurotoxin blocks presynaptic cholinergic transmission, affecting skeletal and smooth muscle and autonomic function - infant botulism: extremely rare, occurs when spores ingested and germinate/multiply/release toxin in the intestine, not related to food ingestion, more common in breast fed babies, incubation 3-30 days, p/w floppy infant, poor feeding, weak cry, general hypotonia, constipation - Muscles innervated by the cranial nerves are affected first, followed by those of the trunk, extremities, and diaphragm Treatment - supportive, ventilation and nutrition - antitoxin - botulism immunoglobulin for infant botulism - immunity does not develop Other answers: - Congenital myopathies are a group of disorders characterised by hypotonia and weakness from birth. Affected individuals usually present at birth or in infancy with hypotonia, weakness, hypoactive deep tendon reflexes, delayed motor milestones, and normal intelligence. Prominent facial weakness and ptosis are often present. - GBS: acute demyelinating disease of periphearl nerves charaterised by progressive weakness, usually beginning in lower limbs with flaccid paralysis and ascending symmetrically - Pompe disease: glycogen storage disease 2, acid maltase deficiency, a lysosomal storage disorder with accumulation of glycogen in lysosomes. Infantile form p/w severe hypotonia, weakness, hyporeflexia, large tongue. - SMA: Anterior horn cell disorder, face spared.

Answer 187

B - Gilbert syndrome. ?Not G6PD as female and X-linked. MRCPCH Inherited disorders of unconjugated hyperbilirubinaemia are a spectrum of disease that depends on the degree of bilirubin UGT deficiency. LFTs and histology are normal. Gilbert - mild deficiency (50%+ decrease of UGT activity) - occurs in 7% of the population - usually presents after puberty with an incidental finding of elevated bilirubin on blood tests or jaundice after a period of fasting or intercurrent illness - M>F - no treatment, compatible with normal lifespan Crigler-Najjar type 2 - moderate deficiency - may require phototherapy and phenobarbital Crigler-Najjar type 1 - severe deficiency - high risk of kernicterus - requires life-long phototherapy or even liver transplant Other answers G6PD - RBC enzyme defect - G6PD helps to maintain glutathione in a reduced state, thus protecting the red cell from oxidative injury - X linked - neonatal jaundice may be the first sign - precipitating causes include infections, acidosis, favism, drugs - dx by G6PD enzyme assay