TAS Flashcards
Kid goes travelling in Africa / Asia presents with pancytopenia and splenomegaly
What is the organism?
 leishmania donovani
Kid goes travelling in Europe presents with pancytopenia and splenomegaly, what is the causative organism?
Leishmania infantum
What is the most common organism in dog bite?
Pasturella Spp
What are the causes of Dyspnoea at end of life ?
1) Pain
2) Superior vena cava obstruction
3) Pulmonary Oedema
4) Chest infection
5) Tumours obstructing the airway obstruction/lung volume reduction
Diagnostic Criteria for SLE ? [4/11]
1) Malar Rash “butterfly” [80%]
2) Discoid Lupus
3) Photosensitivity
4) Oral/Nasopharyngeal Ulcers
5) Non-erosive arthritis - 2 > joints
6) Pleuritis
7) Carditis
8) Renal involvement
- persistent proteinuria
- cellular cast
9) Neurological disorders:
- Seizures
- Psychosis)
10) Haematological disorders:
- haemolytic anaemia
- leukopenia
- lymphopaenia
- thrombocytopenia
11) Immunological disorders:
- Anti-DNA [75%]
- Anti-nuclear [ANA, 95%]
- Anti-Sm
- Anti-Ro
- Anti-phospholipid [APA]
SLE Management:
1) NSAIDs - symptomatic control
2) Hydroxychloroquine
Moderate - Severe:
3) IV-Methylprednisolone
4) Immuno-supressive therapy
- Azathioprine
- Cyclophosphamide
- Mycophenolate Mofetil [MMF]
5) Biologics:
- Belimumab
- Rituximab
At what age is presentation for Pyloric Stenosis most common?
< 3months [4-6wks]
How common is Pyloric Stenosis?
2-5 in 1000 Live Births
Boys > Girls [4:1]
What investigations are necessary to diagnose Pyloric Stenosis?
1) Blood Gas: Metabolic Alkalosis
- hypokalaemic
- hypochloraemic
2) Bloods: FBC, U&E, Clotting + G&S
3) USS - Thickened Pyloris > 4mm
- Muscle Length > 14mm
What is the management for Pyloric Stenosis?
1) ABCDE approach
2) IV-access: fluids dehydration / electrolyte correction
3) NG-tube - free drainage
4) Fluid Balance [strict input/output]
5) Surgery - Pyloromyotomy - excellent prognosis
- establish feeds 6-12 hrs post-op
- d/c 24-48hrs post-op
What are 4 features of Coeliac Disease on Biopsy ?
1) Villous Atrophy (sub-total / complete)
2) Crypt Hypertrophy
3) Lamina propria plasma cell infiltration (B-cell mediated)
4) Intraepithelial cell lymphocytosis (T-cell mediated)
What are the serum serological tests for Coeliac disease?
1) Anti-tissue Transglutaminase [TTG]
- IgA
- IgG (if IgA - deficient)
2) Anti-Endomysial [EMA]
What HLA occurs in Coeliac Disease?
HLA-DQ2 or DQ8
Associated conditions with coeliac disease?
1) Type-1 diabetes
2) Thyroid disease
3) Down syndrome
What is Koebener-phenomenon ?
New psoriatic plaques, which develop at sites of Traumatic Skin.
Skin biopsy findings in psoriasis ? [2]
1) Acanthosis
2) Parakeratosis
What are the five [6] Red risk features of Anorexia Nervosa ?
1) median BMI < 70%
2) Bradycardia < 40bpm
3) prolonged QT-interval: F > 460ms, M > 400ms
4) Arrhythmia
5) Temp 35oC or less
6) Confusion / Delerium
Most common organism which causes necrotising fasciitis?
Group A streptococcus
Why is the use of Ibuprofen contraindicated in chicken-pox?
Increases risk of severe skin infections / necrotising fasciitis
What is the most serious side effect of Aminophylline toxicity?
Arrhythmia!!
Its a phosphodiesterase inhibitor - acts on adenosine receptors AV NODE
What is NAIT - neonatal alloimmune thrombocytopenia?
- white population
- platelet alloantigens - HPA 1a and HPA 5
- severe thrombocytopenia (platelet desctruction)
- intracranial bleeding :(
- NO heart block
What is Kasabach Merrit syndrome?
Giant haemangioma
Thrombocytopenia
Consumption coagulopathy
What conditions are associated with HLA b5?
Behcet syndrome - uveitis, genital ulcers, apthous ulcers
Polycystic kidney disease
UC
What conditions are associated with HLA DR3?
Sjögren syndrome
Grave disease
Addisons disease
Diagnostic features of NF 1?
CAFE SPOT
C Café au lait spots
A Axillary or inguinal freckling
F neuroFibroma (two or more) or plexiform neurofibroma (one)
E Eye hamartomas (Lisch nodules)
S Skeletal abnormalities, eg sphenoid dysplasia, leg bowing
P Positive family history
OT Optic Tumour (optic-nerve glioma)
What is Gittelman’s syndrome?
Autosomal recessive renal condition affecting the sodium chloride transporter in the DCT.
- hypokalaemia
- hypomagnesaemia
- hypocalciuria
Normal Blood Pressure: maintained due to RAAS-activation
Blood Gas: metabolic hypokalaemic alkalosis
What retinal changes do you expect to find in hypertension?
Arterial narrowing with focal irregularities
Flame shaped retinal haemorrhages
Exudates

What retinal changes do you find hyperlipidaemia?
Arterio Venus nicking
Sclerosis
Tortuous vessels
What retinal changes do you find in non-proliferative diabetic retinopathy?
Microaneurysms
Dot & blot haemorrhages
Venous bleeding
Cotton wool spots
What retinal changes do you find in proliferative sickle cell retinopathy?
Peripheral arteriovenous anastomoses (hair pin loops)
Salmon patch haemorrhages
What is are the blood investigations that are expected in Familial Hypercholesterolaemia ?
1) Isolated rise in Total Cholesterol
- Normal Triglycerides
- Normal / Upper limit HDL
2) DNA-analysis to confirm diagnosis
What is the inheritance and pathophysiology of Familial Hypercholesterolaemia?
Autosomal-dominant:
MOA: LDL-receptor deficit
What is the initial management for Familial Hypercholesterolaemia ?
Statins
Fibrate: can be used in cases with raised triglycerides, and also help HDL-levels rise
What is the primary hormone responsible for testicular descent?
Insulin like 3 protein
How many stages are involved in Testicular Descent ?
Stage I - Transabdominal Phase: (3 Hormones)
Androgens, Insulin like 3-protein, Mullerian inhibiting hormone exert effects on two important structures
- Cranio-suspensory Ligament
- Gubernaculum
Stage II - Inguinoscrotal Phase: (Insulin like 3 protein)
Thickening of the Gubernaculum at the caudal end of the testis, helps position into the inguinal canal
Football Sign in AXR Neonate ⚽️ ?
Spontaneous Intestinal Perforation
What physiological process during Meconium Aspiration leads to respiratory distress / increased WOB ?
Surfactant Function:
Meconium denatures surfactant & is a chemical irritant causing pneumonitis
What is the management in haemorrhagic disease of the newborn?
Commonly presents with bruising, GI-bleeding or umbilical bleeding 2-7 days post delivery in breastfed babies who have not received Vit.K at birth.
IV - Vitamin K
FFP
What affect can Meconium Aspiration have on pulmonary vasculature
Low O2 + High CO2 -> perinatal asphyxia stimulates vasconstriction and can lead to development of:
Persistent Pulmonary HTN [PPH]
At what gestation does Surfactant get produced ?
24-28 wks gestation - Type II pneumocystes
What is Choanal Atresia?
This is a condition whereby the Chonae of the nasal passages are blocked.
Presentation can occur unilateral or B/L with difficult passing NG-tube
If B/L babies can present with cyanosis particularly during feeding with resolves with crying as the oral airways open.
What genetic syndrome is Choanal atresia associated with ?
CHARGE-syndrome:
C - Coloboma
H - Heart Defects
A - Atresia Choanae / stenosis
R - Retardation of growth/development
G - Genito-urinary abnormalities
E - Ear Abnormalities / Deafness (SNHL)
Tracheoesophageal atresia may also develop
What is Hydrops Fetalis ?
Type of High-output cardiac failure.
Newborn disease:
- Anaemia
- Oedema
- Respiratory Distress
Can be caused by:
- Rh disease
- Haemolytic disease of newborn
What are the 3 main risk-factors for IVH ?
1) Germinal Matrix Fragility due to prematurity
2) Fluctuant cerebral blood-flow
3) Platelet + coagulation disorder
What are the investigative finding in DIC?
- (L) Platelets
- (L) Fibrinogen
- (H) INR
- (H) APTT
Risk Factors: Sepsis + Hypovolaemia
What is Neonatal alloimmune thrombocytopenia?
Isolated Low platelets in a newborn, caused by interaction between paternal platelet antigen and maternal platelet Ab’s
What part of the GIT does Hirschsprung’s Disease commonly affect ?
[80%] of cases affect the Rectum
Which cell membrane is responsible for lung fluid resorption?
Sodium Channels
At birth mature lung switches from active Cl- secretion to active Na+ absorption, in response to circulating catechloamines + glucocorticoids this facilitates lung fluid clearance.
What hormones help stimulate reabsorption of fetal lung fluid ?
Glucocorticoids
What is the embryological origin of the intestinal plexi ?
Ectoderm:
- Intestinal nerve cells from the neural crest of the neuroectoderm undergo cranio-caudal migration between 4-7 wks gestation.
- Failure of this migration, results in aganglionic colonic segments -> Hirschsprung’s Disease
How does Curosurf work?
Reduces the Surface Tension in the Alveoli, thereby preventing Alveoli collapse and facilitates gas exchange.
What are the side effects of tetracyclines during pregnancy?
- Slow skeletal growth
- Tooth pigmentation
- Enamel Hypoplasia
- Congenital cataracts
What are the teratogenic affects of amphetamines and alcohol use during pregnancy?
Congenital heart defects
What effect does maternal warfarin have on the newborn?
Increased risk of life-threatening fetal bleeding
What are the teratogenic effects of sodium valproate?
- CNS abnormalities
(Spina bifida) - Facial abnormalities
- Cardiac defects
- Limb defects
How does hypoxia, hypothermia & acidosis affect babies?
Inhibited surfactant production -> RDS
What are the hallmarks of Potter’s Sequence?
- PUV [in the context of Antenatal Oligohydramnios]
- Pulmonary hypoplasia - > RDS -> Intubation + Ventilation
- B/L Renal Dysplasia. -> AKI at Birth
- Craniofacial Abnormalities
- Clubbed Feet
Which Ab’s are able to cross the placenta and cause HND?
Anti-Rhesus D IgG antibodies
Which parameter directly correlates with oxygenation?
Mean Airway pressure
What test is likely to lead to a diagnosis of ABO incompatibility?
Blood group
Name 6 Maternal risk factors that increase your risk of pulmonary hypertension in neonates [PPHN]?
- Anaemia
- Diabetes
- Fever
- Meconium-stained amniotic fluid
- Pulmonary disease
- UTI
Name 6 perinatal-risk factors that increase your risk of pulmonary hypertension in neonates [PPHN]?
- Asphyxia
- Aspiration (Meconium)
- Congenital heart defects (obstructed left -> right shunts)
- Myocardial disease
- Pneumonia
- Surfactant deficiency
In Twin-Twin Transfusion what are the common issues that can arise in the Donor Twin?
Reduced placental blood supply leading to:
- Growth restriction (IUGR)
- Oligohydramnios -> Pulmonary hypoplasia
In Twin-Twin Transfusion what are the common issues that can arise in the Recipient Twin?
Increased placenta blood supply can lead to:
- High output cardiac failure
- Polyhydramnios —> Fetal Hydrops
What is the main component of Surfactant?
Phospolipids
- Phosphatidylcholine
What is the function of Phosphatidylcholine ?
Lowers Surface Tension + prevents alveolar collapse
What are 5 X-ray features NEC?
- Ascites
- Distended Bowel Loops
- Pneumotosis Intestinalis
(Gas within the intestinal wall) - Portal Vein Gas
- Pneumoperitoneum
What organism is present in Unpasteurised Milk ?
Listeria Monocytogenes
What complications can Listeria monocytogenes cause in the antenatal period ?
- Maternal D&V
- Preterm Meconium
- Premature Labour
- Miscarriage
What does Listeria monocytogenes cause in babies ?
Neonate < 7 day old: Neonatal Sepsis
7 days - 3months: Meningitis
How does Duodenal Atresia present?
1-2 day old of vomiting after feeds
Milky - atresia is above the ampulla of Vater
Billious - atresia below the ampulla of Vater
What embryological error leads to Duodenal Atresia ?
- Recanalisation Error (occurs > 6wks)
What vessel is the most oxygenated in fetal circulation?
Umbilical Vein
What neurological abnormalities is Congenial Melanocytic Naevus associated with ?
Leptomeningeal melanocytic tumours
[Requires MRI-brain + Spine 4-6months old]
Which Immunoglobulin is associated with Bullous Pemphigoid?
IgG-4 more common
IgG-2 less common
What gene is associated with Diabetes?
HLA-DR3 + 4
What electrolyte disturbance do you expect to see in Addison’s Disease?
Due to the lack of Cortisol patients present:
(L) Na+ - Hyponatraemia
(H) K+ - Hyperkalaemia
What are the potential serious side effects of suddenly stopping steroids?
Adrenal Suppression:
- Anorexia
- Abdominal Pain
- Vomiting
- Weight Loss
- Fatigue
- Headache
- Hypoglycaemia
- LOC
- Siezures
What is the Neonatal Presentation of Beckwith-Weidmann syndrome? [3]
- Hypoglycaemia
- Hemi-hypertrophy (half body is larger)
- Macroglossia
What skin condition does the presence of non-inflammatory, filled pigmented skin papules/spots suggest?
Acne Vulgaris: “Open Comodones”
Presence of ‘Blackheads’ which is a combination of:
- Sebum
- Keratinocytes
What skin condition is suggested by the presence of non-inflammatory white bumps under the skin?
Acne Vulgaris: “Closed Comodone”
‘Whiteheads’ are accumulation of Keratin within an affected follicle, not open to the skin surface.
What are micro-comodones?
Clinically invisible, often precursors to open or closed comodones & inflammatory lesions
What are papules ?
Inflammatory, raised erythematous skin lesion < 5mm diameter.
What are cysts?
Cysts are swollen inflammatory skin lesions > 5mm in diameter.
Often painful & flucuant.
What is Acne conglobata?
SEVERE ACNE - cysts coalesce to sinuses
What is the diagnostic investigation for Cranial Diabetes insipidus [DI] ?
“Water Deprivation Test” - 7 hours
(Plasma Na+ & Plasma Osmolality 2hrly)
A central inability to concentrate urine.
Plasma Osmolality > Urine Osmolality
[285-305]. [<280]
What is MODY?
Maturity Onset Diabetes of the Young
6 Types MODY 1–>6
Autosomal Dominant Inheritance pattern.
What is the gene mutation in MODY-1, how does it present?
~ 10% of MODY
HNF4A: TCF —> decreased HDL-C levels
1) Hyperglycaemia
2) Macrosomia at Birth
3) Transient neonatal hypoglycaemia
Treatment: Sulphonylureas —> Insulin
What is the gene mutation in MODY-2, how does it present?
~ 30% of MODY
GCK: Glucokinase receptor mutation
Affects the Enzyme in pancreatic B-cells + Hepatocytes making them less receptive to glucose levels.
[Small incremental rise in Insulin secretion threshold —> slightly higher Fasting Glucose 5.5 - 8mmol/L]
1) Mild Stable Hyperglycaemia
2) Asymptomatic
3) Dx @ Pregnnancy
Tx: Diet + Lifestyle
What is the gene mutation in MODY-3, how does it present?
~ 50-70% of MODY [High - PENETRANCE]
63% 25yrs —> 79% 35yrs —> 96% > 35yrs
HNF1A - TCF —> inhibits key aspects of:
- Glucose transport
- Glucose metabolism
- Mitochondrial metabolism (B-cells)
Pancreas, Liver, Kidney + Small intestines
Progressive B-cell dysfuntion
Reduced Renal Threshold of Glycosuria
1) Progressive Sig. Hyperglycaemia
2) Glycosuria
3) Micro + Macrovascular complications
Tx: Sulphonylureas —> Insulin
What is the gene mutation in MODY-4, how does it present?
Rare
PDX1 —> defective IPF1
Affects:
- Pancreatic development
- Insulin Gene Expression
1) Insulin deficiency
2) Exocrine dysfunction
Tx: Insulin + Creon
What is the gene mutation in MODY-5, how does it present?
Rare < 5% of MODY also called RCAD
Progressive loss of renal function independent of diabetic nephropathy
HNF1B (TCF): affects gene regulation in several organs:
- Liver
- Kidneys
- Lung
- Small Intestine
- Ovaries
1) Renal:
- Cysts
- Dysplasia
- Hypoplastic Glomeruli
2) Genital tract malformations
3) Learning difficulties
Tx: Insulin
What is the gene mutation in MODY-6, how does it present?
Rare
NEUROD1 (TCF): affects pancreatic & neuronal development
1) Early-onset diabetes
2) Neurological Associations
Tx: Insulin
What 3 syndromes have MODY-genes been associated with?
- Wolfram Syndrome [DIDMOAD]
- Thiamine responsive Megaloblastic Anaemia syndrome
- Maternity-Inherited Diabetes + Deafness
What is DIDMOAD and what syndrome is it also known as?
[DIDMOAD]
- Diabetes Insipidius
- Diabetes Melitus
- Optic Atrophy
- Deafness
~ Wolfram Syndrome
What Clinical Criteria are suggestive of MODY?
- Strong FHx of Diabetes
- Onset < 25yrs
- Non Ketotic Hyperglycaemia
What 2 blood tests are suggestive of MODY?
- Absent Pancreatic Auto-Ab’s
- Persistent fasting C-peptide production
What specific mutations are suggestive of MODY?
HNF4A - MODY 1
GCK - MODY 2
HNF1A - MODY 3
PDX1 - MODY 4
HNF1B - MODY 5
NEUROD1 - MODY 6
How can Neonatal SLE present?
- Erythematous papulosquamous rash with Fine Scales, Central clearing worse on the face.
(Often post UV-light exposure,
e.g. post PTx for Hyperbillirubinaemia) - Thrombocytopenia
- Congenital Heart Block [Anti-Ro or Anti-La]
- Transaminitis
- Fibroelastosis
What is “Bloom Syndrome” ?
Autosomal Recessive [AR]
- Growth Retardation
- Photosensitivity
- Pigment abnormalities
- Telangectasia
Cancer predisposition:
- Leukaemia
- Lymphoma
What are the Clinical features of ‘Rothmund-Thompson’ syndrome?
Atrophic pigmentary telangestasia
“Poikiloderma”
Cancer associations:
- Skin
- Bone (Osteosarcomas)
What is ‘Cockayne Syndrome’ ?
Autosomal Recessive [AR], characterised by:
- Growth Failure
- Progressive neurological deterioration
- Dental Carries
- Eye anomalies (Cataracts)
- SNHL
What is Xeroderma Pigmentosum?
Autosomal Recessive [AR], Characterised by:
- Extreme Photosensitivity
- Freckling
- Skin Malignancy (infancy)
- Neurological complications [20%]
- Eye abnormalities
What 5 eye abnormalities are associated with Xeroderma Pigmentosum?
- Loss of Lashes
- Ectropian
- Photophobia
- Conjuctival Telangestasia
- Corneal abnormalities
What is the appropriate treatment of a 1.5cm strawberry naevus on the left upper eye lid?
Refer to Opthalmology:
Periocular haemangiomas > 1cm of upper eye-lid or deep component can:
- Compromise vision
- Ambylopia
- Astigmatism
- Strabismus
What are the management options of periocular haemangiomas?
- Patch to unaffected eye
- Topical B-blockers (superficial lesions)
- Oral Propranolol
- Intralesional Corticosteroid
- Oral Corticosteroid
- Surgical Excision
What infectious triggers is Steven-Johnson syndrome [SJS] commonly associated with?
- Herpes Simplex
- EBV
- Mumps
- Influenza “Flu”
- Mycoplasma Pneumonia
What drugs are commonly associated with Steven Johnson Syndrome [SJS] (5) ?
- Sulphonamides
- Penicillins
- Barbiturates
- Phenytoin
- COCP
AED’s
- Carbamazepine
- Lamotrigine
- Phenytoin
- Phenobarbital
What additional investigations are required in patients with New diagnosis of T1DM?
- Coeliac Screen
- Antibody markers
- Islet cell Ab’s
- Glutamic acid decarboxylase [GAD] Ab’s
What outpatient monitoring is required in Patients with T1DM? [5]
HbA1C < 59mmol/mol or 7.5%
Not diagnostic in Paeds
4 Annual Screening:
- Thyroid disease
- Retinopathy
- Urine Alb/Cr ratio >12yrs
- HTN >12yrs
What is the chromosomal abnormality in Klinefelter’s Syndrome?
47 XXY - additional X-chromosome
Clinical Features at Pubertal presentation
- Tall Thin
- Small Testes
- Gynaecomastia 30% —> Breast Ca Risk
- Female distribution of Fat + Hair
- High pitched voice
- INFERTILITY 99%
What is Aplasia Cutis Congenia?
Presents from birth with a well-defined area of abnormal skin with associated hair loss.
What is Alopecia Ariata?
Is a well circumscribed area of hair loss that is acquired (not present @ birth) associated with Nail Pitting + FHx
What is Telogen effluvium?
Sudden shedding of hair 3-5months following an illness.
What is Trichotillomania ?
Behavioral condition: “pulling hair out”
Combination of Hypo-magnesium & Hypocalcaemia is suggestive of what condition?
Hypoparathyroidism
Mg - required for parathyroid hormone secretion, thus severe deficiency can lead to hypoparathyroidism
Mg-losses via
- GI (Gastritis + Omeprazole)
- Renal (loop diuretics + aminoglycosides)
What layer of skin do Epidermolytic Toxins A+B+D in SSSS disrupt ?
Area between the Stratum Spinosum + Granulosum —> Blistering of the skin + extensive exfoliation
What conditions are associated with HLA-B27?
Psoriatic Arthritis
Ankylosing Spondylitis
What genes is associated with MEN Type 2?
RET - mutations associated with MEN-II
Autosomal Dominant [AD] + Spontaneous
- Thyroid Carcinoma
- Hyperparathyroidism
- Phaeochromocytoma
Marfanoid habitus also associated with RET
What genetic mutations are associated with Pheochromocytoma ? [3]
- RET —> MEN-II
- VHL —> von Hippel-Lindau disease
- NF1 —> Neurofibromatosis-I
What gs are associated with Pheochromocytoma ?
What form of amennhorea is PCOS associated with ?
2o - Secondary Amenhorroea
[Cessation of Menes within 6months of Menarche]
What Hormone change are you likely to see in PCOS ?
Elevated Testosterone
What are the Clinical Features of PCOS?
- Oligomennorhoea —> Amennorhoea
- Obesity
- Acne
- Hirustism
- Acanthosis Nigricans
What invx would you consider in PCOS?
(H) Testosterone
(H) FSH
(H) LH
(L) Sec-hormone binding globulin
USS - +/- presence of cysts (not Dx)
What is the Mx of PCOS?
- Lifestyle advice / interventions
- Period Regulation [COCP, POP, IUS]
- Acne Treatment
- Hirustism Treatment
- Fertility [Clomiphene or Metformin]
- Diabetes Screening
What is the Mx of PCOS?
- Lifestyle advice / interventions
- Period Regulation [COCP, POP, IUS]
- Acne Treatment
- Hirustism Treatment
- Fertility [Clomiphene or Metformin]
- Diabetes Screening
What 4 Tx options are available for Hirustism in PCOS ?
- COCP - Yasmin
- Cyproterone Acetate
- Spironolactone
- Finasteride [Type-II 5a-reductase]
What 4 Tx options are available for Acne?
- Topical Benzoyl Peroxide
- Topical Retinoids
- Antibiotics
- Isoretinoin
What is the deficiency in PKU?
Enzyme deficiency:
Phenylalanine Hydroxylase
Tetrahyddrobiopterin
Phenylalanine —> Tyrosine
(Stop)
Accumulation of Phenylalanine + Lack of Tyrosine
What clinical features suggest PKU?
Brain defects —> Developmental Delay
Lack of Tyrosine:
- Fair Hair
- Fair Skin
- Blue Eyes
“Mousy Odour”
What genes + inheritance for Phenylkentonuria Hydroxylase?
Ch 12q 23.2
Autosomal Recessive [AR]
What enzyme is deficient in Sjogren-Larson Sydnrome?
Fatty Aldehyde Dehydrogenase [FALDH]
Autosomal Recessive [AR]
Ch 17, Gene ALDH3A2 [70 mutations]
What are the clinical features of Sjogren-Larsson syndrome?
Skin:
- Ichthyosis (dry skin)
- Collodion Baby
- Palmoplantar Keratoderma [70%]
(Thickening of Skin Palms + Soles)
Neuro:
- Retinal White dots
- Siezures [40%]
- Developmental delay
- Photophobia
Skeletal:
- Kyphoscoliosis
- Hip dislocation
- Short Stature
How do you assess for Growth Hormone deficiency?
Stimulated Hormone level
(Glucagon Stimulates Growth Hormone)
How does phenobarbital work
Activates GABA A R
First line in neonates
Glycogen Storage disease, dark urine?
Myoglobinuria
(Breakdown of muscle Rhabdomyolysis)
Continuous Urine leak despite potty training?
Duplex kidney
Urge incontinence, increased Frequency
Detrusor Muscle instability
What are the characteristics histological findings of Biliary Atresia? [6]
- Bile duct proliferation
- Fibrosis
- Portal Tract Oedema
- Fibrosis
- Inflammation
- Bile-duct plugs
What is MELAS?
Mitochondrial encephalopathy with Lactic Acidosis & Stroke-like episodes
Mitochondrial Transfer RNA defects
Female girl, Vesicular blistering rash, which develops into wart-like skin growths cutaneous lesions, occurring in a linear fashion
Incontinetia Pigmenti
(X-linked Dominant)
Males die in-utero
10 year old with progressive ataxia + skeletal abnormalities with Hypertrophic cardiomyopathy is suggestive of what condition?
Friedreich’s Ataxia
Progression —> Severe Heart-Failure —> Death
What are the Characteristic features of Fragile X?
Macrocephaly
Large Ears
Long Face
Testicular Enlargement
High arched palate
Hx of PE, treated with Heparin infusion. Unable to achieve adequate heparin levels and prolong APTT?
Anti-thrombin III deficiency
What are the enzymes affected in Congenital Adrenal Hyperplasia [CAH] ?
- 21-hydroxylase deficiency
- 11-beta-hydroxylase deficiency
- 17-alpha-hydroxylase deficiency
CoNS infections ?
Commonly affect premature babies with Line-infections:
- Staph Epidermidis
Tx - Vancomycin
What are the main components of Breastmilk:
- 90% Water
- Carbohydrate
- Lactose
- Oligosaccharide]
- Lipid
- Cholesterol
- EFA’s
- Protein
- Bioactive components:
- Ab’s
- Enzymes
- Hormones
- Micronutrients
- Vitamins
- Minerals
What are the benefits of breastfeeding? [4]
- Breastmilk, as whole contains more nutritional components that are also beneficial to the child’s overall health.
- Protection against Atopic illnesses:
- Asthma
- Eczema
- IBD
- GI disorders (reduced NEC) - Improves Maternal Health:
Reduced risk of:
- Diabetes
- Breast Cancer
- Ovarian Cancer
Improves mother-child bond
Natural contraception
Improves post-pregnancy weight-loss - Cost-effective
What are the medical advantages seen in breastfed babies? [4]
- Immune-protection against infections:
- Otitis Media
- LRTi
- Gastroenteritis - 36% Reduction of SIDS
- Positive affect in IQ
- Protects against obesity, reduces obesity risk later in life.
- Protects against future T2DM, potentially T1DM.
What are the Medical Disadvantages of Breastfed babies? [2]
- Low Vit.D
- supplementation is recommended to pregnant + breastfeeding mothers
- Multivitamins recommended from >28 days of life (Abidec, Multivits)
- Passing on Infection:
- HIV Contraindicated
- Hep B (offer HBV vaccine or HBIG)
- Hep C
- CMV
- West Nile Virus
- Human T lymphocyte virus [HTLV]
What is Colostrum ?
Thick sticky ‘lemon’ yellow fluid produced in the first 3-4 days post-delivery.
What are the nutritional components & potential benefits of Colostrum? [4]
- Vitamin A
- High Protein
- Maternal AB’s acts as 1st-immunisation with anti-ineffective properties.
- Increase GI-motility + help reduce early neonatal Jaundice.
What is the Nutritional composition of Breastmilk? [4]
- 90% Water
- Lipids - 50% of energy content
- Carbohydrates - 50% energy content
- Protein
What are the main benefits of the Lipid components found in Breastmilk? [4]
- Lipids - Fats provide 50% total energy
- contains fat for Brain grey-matter development + myelination of the nervous system.
- EFA’s + Omega-3 FA’s help in healthy brain, eye & blood vessel growth.
- Lipase helps in the digestion of fats so Breastmilk is more completely digested.
What are the main benefits of the carbohydrates found in breastmilk ? [2]
- Carbs - provide 50% total energy content
- Oligosaccharides which help prevent harmful bacterial overgrowths.
What are the main carbohydrate components found in breast milk ? [2]
- Lactose - main component
- Oligosaccharides:
- glucose
- galactose
- N-acetylglucosamine
- sialic acid
What are the main protein components found in breast milk ? [2]
Mature breastmilk - 0.9g/dL of Protein
- Whey proteins
- Lactoferrin: binds to iron, thus reducing the availability of iron for bacterial growth.
- Lysozymes
- AB’s: mainly IgA
- Casein
What are the main benefits of the protein components found in breast milk ? [4]
- Higher proportion of Whey, allows for softer curds with facilitates digestion.
- Lactoferrin binds to iron, helps prevent bacterial overgrowths
- Lysozymes aid digestion & micronutrient absorption
- AB’s which help in immune-protection
What are the benefits of breastmilk in preterm babies? [3]
- Increased Fat absorption, more energy efficient calories.
- EFA’s, Omega-3 FA’s & long-chain PFA’s: help in the development of:
- brain
- eyes
- blood vessels - Lower prevalence & severity of NEC, with lower incidence of intestinal perforation.
What breast-conditions can affect a mother’s ability to breastfeed? [3]
- Sore / cracked nipples
- Engorgement
- Mastitis
What is the most abundant bacteria found in the gut of breastfed babies?
- Bifidobacteriaceae (Actinobacteriae-phylum)
- Thrive on the Oligosaccharides which are abundant in breastmilk.
- Bacteroidaceae - increase in number from the neonatal period.
What is the most abundant bacteria in formula-fed babies?
Lachnospiraceae:
- due to changes in gut microflora stimulated by formula.
What enteral bacteria are likely to increase in abundance as a child transitions to solid foods? [3]
- Bacteroidetes
- Bacteroidaceae
- Proteobacteria
- Enterobacteriacae
- Firmicutes
- Ruminococcaceae
How does vitamin B12-deficiency present?
Combination of Neurological symptoms & Macrocytic Anaemia.
How is Vitamin B12 obtained?
Water-soluble vitamin obtained via dietary sources, mainly animal products:
- Eggs
- Dairy
- Fish
- Poulty
- Red Meat
Which part of the GIT is Vitamin B12 absorbed from?
Terminal Ileum
What factor is the absorption of Vitamin B12 from the Terminal Ileum dependent on?
Intrinsic Factor [IF] - secreted by the Stomach
How does deficiency in Vitamin B12 occur? [2]
Two main causes:
- Poor intake
- Poor absorption
Causes of Inadequate dietary B12 intake? [2]
- B12 deficient Breastmilk - most common cause in infants
- Strict Vegan Diet
What are the main categories for causes of reduced Vitamin B12 absorption? [5]
- Auto-immune
- GI-Diseases
- Pancreatic Disease
- Medications
- Genetic
What are the Auto-immune causes that affect Vitamin B12 absorption? [2]
- Pernicious Anaemia
- Autoimmune metaplastic atrophic gastritis
What the main GI causes of impaired Vit.B12 absorption?
- Surgery
- Gastric bypass
- Terminal Ileum removal
- Crohn’s
- Coeliac
- Gastritis
- NEC
- Malabsorption syndrome
- Fish Tapeworm
- Bacterial overgrowths 2o:
- Intestinal duplication
- Diverticula
- Diphyllobothrium Latum infestation
What is the pancreatic cause of impaired Vit.B12 absorption?
Pancreatic Insufficiency:
- Exocrine Pancreatic Deficiency.
What Medications impair the absorption of Vit.B12?
- Proton Pump Inhibitor [PPi’s]
- H2-Receptor Antagonists
- Metformin
- Neomycin
How does Metformin affect the absorption of Vit.B12 ?
Metformin: dysregulates Ca2+ homeostasis, which disrupts the formation of the B12-IF complex which is required for absorption of Vit.B12 in the Terminal Ileum.
What are the Genetic causes that affect Vit.B12 absorption? [4]
- Hereditary Intrinsic Factor-deficiency
[AR] rare, mutation of IF-gene:
- deficient IF
- defective IF - Transcobalamin-deficiency [AR]rare
Deficient or defective synthesis of transcobalamin. - Imerslund-Grasbeck Syndrome [AR]rare
Mutation in CUBN or AMN proteins -> selective Vit.B12 Ileum malabsorption. - Inborn Errors of Cobalamin metabolism
Abnormal conversion of cobalamin -> methylcobalamin or adenosylcobalamin
What is the synonym for Vit.B12 ?
Cobalamin
What protein is secreted by the salivary gland that binds to Cobalamin (Vit.B12)
- Salivary Gland secretes: (3 synonyms)
Transcobalamin I
Haptocorrin
R-Binder
How is Cobalamin (Vit.B12) liberated from food products in the stomach? [2]
- Chief Cells: secrete Pepsinogen
- Parietal Cells: secrete HCL
These together work in the breakdown of proteins and liberate cobalamin(Vit.B12) in the food products
What does cobalamin bind to in the stomach?
Cobalamin binds to synonymous protein:
Transcobalamin I, Haptocorrin or R-binder which then travels to the duodenum.
Where is Intrinsic factor produced?
[IF] is produced by parietal cells in the Stomach.
What role to the pancreatic enzymes have in Cobalamin (Vit.B12) absorption.
The exocrine secretion of proteases from the pancreas into the 2nd part of the Duodenum, facilitates the liberation of cobalamin from the complex formed in the duodenum cobalamin-transcobalamin I.
This subsequently, allows cobalamin to bind to Intrinsic-factor.
Where does Cobalamin(Vit.B12) bind to IF?
Cobalamin binds to IF in the distal part of the Duodenum and proximal small intestine, to form the cobalamin-IF complex.
What role does IF play the absorption of Cobalamin (Vit.B12) ?
Intrinsic-factor [IF] facilitates the absorption of cobalamin (Vit.B12) in the terminal Ileum, as it binds the luminal IF-receptors on enterocytes, resulting in endocytosis of the Cobalamin-Transcobalamin I complex, which is then absorbed into the Blood plasma.
How is cobalamin transported in the blood plasma?
Cobalamin can bind to 2-proteins:
- Transcobalamin I - (80%)
- Transcobalamin II - (20%)
What is the role of Transcobalamin II?
Transcobalamin II: binds to cobalamin to form a complex that facilitates delivery of cobalamin (vit.B12) to the cellular tissues where it can be utilised by the cells.
What are the important functions of Vit.B12 at a cellular level? [3]
- DNA + RNA synthesis
- RBC production
- Lipid synthesis - myelin sheath formation
What are the ‘Non-specific’ symptoms of Vitamin B12-deficiency? [8]
- Fatigue
- Lethargy
- Weakness
- SOBOE
- Irritability
- Feeding difficulties
- Glossitis
- Taste impairment
What are the Neurological Symptoms of Vit.B12 deficiency? [6]
- Paraesthesia
- Sensory deficits - subacute spinal cord degeneration, loss of:
- vibration
- proprioception
- Hypotonia
- Developmental delay
- Siezures
- Neuropsychiatric manifestations
What are the Haematological features of Vitamin.B12 (cobalamin) deficiency? [7]
- Macrocytic Anaemia:
- prominent RBC macro-ovalocytosis
- MCV > 100
- Large Hyper-segmented Neutrophils
- Low serum Vit.B12
- High serum:
- Methylmalonic acid
- Homocysteine
- LDH
- Moderate Hyperbilirubinaemia
- High urine methylmalonic acid
- Advanced cases:
- Neutropenia
- Thrombocytopenia
What tests can be performed to look for Vit.B12 Malabsorption? [2]
- Pernicious Anaemia:
- Anti-Intrinsic Factor AB’s
- Anti-parietal cell AB’s
- Intrinsic factor - levels
What is the management of Vit-B12 deficiency? [3]
- Dietary:
- Vit.B12 rich foods
- Adherence to Vit.B12 supplementation
- Oral Therapy:
- Cyanocobalamin 50-150 micrograms/day
- IM Therapy: Hydroxycobalamin
- x3 per wk for 2wks NO Neuro-symptoms
- Alternate days for 3wks Neuro-symptoms
- Life treatment if irreversible cause
- concomitant administration of Folate is also recommended to prevent folate deficiency*
What is the prognosis for Vit.B12 deficiency?
Short-term: good provided appropriate supplementation.
Long-term: B12-deficiency can cause nerve damage, may be permanent if not treated < 6 months of presentation.
What are the DDx of Vit.B12 deficiency? [2]
- Folate deficiency
- Myelopathy 2o:
- HIV
- Cu2+ deficiency
How does Vit.B12 deficiency result impaired DNA/RNA synthesis & megaloblastic anaemia?
Vit.B12 Co-factor of 2 essential Metabolic reactions.
Lack of Vit.B12 Impaired conversion of:
Homocysteine —> Methionine
(Accumulation of Homocysteine —> affects protein synthesis)
Methyl-tetrahydrofolate —>tetrahydrofolate
(Affects Purine + Pyramidine production —> affects DNA + RNA synthesis)
How does Vit.B12 deficiency cause nerve damage and neurological manifestations?
Accumulation of:
1. Methylmalonic Acid
2. Homocysteine
Cause myelin damage resulting in neurological manifestations.
What is Intestinal Lymphangiectasia?
A condition characterized by the dilation of lymphatic vessels in the intestinal wall.
True or False: Intestinal Lymphangiectasia can lead to protein-losing enteropathy.
True
Fill in the blank: The primary cause of Intestinal Lymphangiectasia is often _____ obstruction.
lymphatic
Which of the following is a common symptom of Intestinal Lymphangiectasia? (A) Diarrhea (B) Coughing (C) Headache
A) Diarrhea
What diagnostic method is commonly used to confirm Intestinal Lymphangiectasia?
Endoscopy with biopsy
What diet is recommended in Severe Intestinal Lymphangiectasia?
High Protein, very low long-chain triglycerides with medium-chain triglycerides
What is the primary function of Vitamin A in the human body?
Vitamin A is essential for vision, immune function, and skin health.
True or False: Vitamin A deficiency can lead to night blindness.
True
Fill in the blank: A severe deficiency of Vitamin A can cause __________, which is a condition characterized by dryness and clouding of the cornea.
xerophthalmia
Which population groups are most at risk for Vitamin A deficiency?
Pregnant women, breastfeeding mothers, and children under five are most at risk.
What are some dietary sources of Vitamin A?
Dietary sources include liver, fish oils, milk, eggs, and orange or yellow fruits and vegetables like carrots and sweet potatoes.
What controvesial diet has been shown to improve behaviour in ASD?
Ketogenic Diet
What is the primary function of Vitamin E in the body?
Vitamin E acts as an antioxidant, protecting cells from damage caused by free radicals.
True or False: Vitamin E deficiency can lead to neurological problems.
True
Fill in the blank: A deficiency in Vitamin E can cause ________ due to impaired nerve function.
neuropathy
Which of the following populations is most at risk for Vitamin E deficiency? A) Healthy adults B) Individuals with malabsorption disorders C) Athletes D) Children
B) Individuals with malabsorption disorders
What are common symptoms of Vitamin E deficiency?
Common symptoms include muscle weakness, vision problems, and immune system issues.
What diet is recommended in Eosinophilic Oesophagitis?
1.) Oral Elemental Diet
2.) Exclusion Diet
What vitamin increases the Absorption of Iron?
Vitamin C
What possible factors reduce the absorption of Iron? [2]
1.) Diet: Tea + Coffee
2.) Drugs:
- PPI’s
- Tetracyclines
- Quinolones
What are 3 non-haematological signs of Iron-deficiency anaemia? [3]
1.) Reduced CNS Higher-functions
2.) Diminished T-cell function + cell-mediated immunity
3.) Diminished Muscle performance.
What 3 Histological changes to do see in Iron-deficiency Anaemia on Blood-film ? [3]
1.) Microcytic Hypochromia
2.) Anisocytosis (variant cell size)
3.) Poikilocytosis (irregular RBC shape)
What other micronutrient deficiencies also occur in Iron-deficient anaemia ? [2]
1.) Vitamin B12
2.) Folate
What dietary requirements are recommended in PKU?
Phenylalanine-free / reduce-diet.
Long-chain polyunsaturated FA’s
E.g. XP Analog LCP
What Formulas is recommended in Patients with COW’s Milk Protein Allergy? [3]
1.) Nutramigen LGG [Hypoallergenic, Hydrolysed Proteins]
2.) PurAmino / alpha-Amino
[Amino-acid based formula]
3.) Neocate Junior [Hypoallergenic, Nutritionally complete, amino acids]
What is the most common ECG-finding found in Anorexia Nervosa?
1.) Bradycardia
What are the symptoms of Zinc-deficiency? [4]
Acrodermatitis Enteropathica:
1.) Recurrent Diarrhoea
2.) Symmetrical Erythematous Perioral & Perianal Rash
3.) Delayed Growth
What complication can occur if TPN is not weaned gradually, upon refeeding?
Rebound Hypoglycaemia:
Due to residual high insulin levels, from TPN.
What is the gene mutation that occurs in Adrenoleukodystrophy [ALD] ?
X-Linked with variable expressivity.
Mutation for ABCD1 gene - leads to a defective ALD-protein with results in an accumulation of VLCFA’s resulting in damage to Nerve-cells + Glial Cells
What are the 4 main expressive variations of Adrenoleukodystophy?
1.) Childhood Cerebral Type [ccALD]
2.) Adult Cerebral Type [acALD]
3.) Adrenomyeloneuropathy [AMN]
4.) Adrenal Insufficiency Type
What are the symptoms childhood cerebral adrenoleukodystrophy [ccALD] ? [7]
Toddler’s - Early school age:
1.) New - onset behavioural problems
2.) Learning disability
3.) Seizures
4.) Vision Loss
5.) Deafness
6.) Speech Loss
7.) Co-ordination difficulties
What Diet is most appropriate for patients with Adrenoleukodystropy [ALD] ?
Lorenzo Oil + Moderate Fat Restriction
Prevent the accumulation of VLCFA’s.
What Diet is Recommended in MCADD
Normal diet, regular meals & snack with frequent drinks, with a glucose polymer.
IF Unwell Restrict FAT
AVOID Prolonged Period of Starvation:
Defective Fatty-Acid Oxidation
1st Line Treatment of H.Pylori?
x3 Triple Therapy: [7 days]
1.) Amoxicillin
2.) Clarithromycin
3.) Omeprazole
2nd Line Treatment of H.pylori?
x3 Triple Therapy: [10-days]
1.) Amoxicillin
2.) Metronidazole
3.) Omeprazole
What are the common Risk-Factors for Pyloric Stenosis? [5]
Pc: 4-8wks of life
1.) White / Hispanic ethnicity
2.) Boys > girls
3.) Maternal Smoking
4.) Bottle-fed
5.) Early Treatment with Macrolide Abx
What is biliary atresia?
Biliary atresia is a congenital condition characterized by the absence or obstruction of the bile ducts.
True or False: Biliary atresia can only be diagnosed in adulthood.
False: Biliary atresia is typically diagnosed in infants.
Fill in the blank: The primary symptom of biliary atresia is _____ in infants.
jaundice
What is the most common treatment for biliary atresia?
The most common treatment is a surgical procedure called the Kasai procedure.
Multiple Choice: Which of the following is a potential complication of untreated biliary atresia? A) Liver failure B) Diabetes C) Hypertension D) Asthma
A) Liver failure
What is protein losing enteropathy (PLE)?
Protein losing enteropathy (PLE) is a condition characterized by excessive loss of protein from the gastrointestinal tract.
True or False: PLE can lead to hypoalbuminemia.
True
Fill in the blank: Common causes of protein losing enteropathy include _____ and _____ disorders.
intestinal lymphangiectasia, inflammatory bowel disease
Which diagnostic test is often used to confirm PLE?
Stool alpha-1 antitrypsin clearance test
What is the primary treatment approach for managing protein losing enteropathy?
The primary treatment approach includes addressing the underlying cause and providing nutritional support.
What protein is affected in the GIT, by a lack of Fibre in the Diet?
1.) Mucin 2 [MUC2]
Lack of fibre results in reduced energy source for intestinal microbes and leads to inner mucus layer degradation.
What enzyme is affected in Criggler Najjar syndrome?
Bilirubin-uridine diphosphate glucoronsyltransferase [UGT1A1]
(H) - Unconjugated bilirubin
What are the 3P’s of Pyloric Stenosis?
1.) Palpable Mass
2.) Peristalsis
3.) Projectile Vomiting
What is biliary atresia?
A congenital condition in which the bile ducts are absent, blocked, or damaged, leading to bile accumulation in the liver.
True or False: Biliary atresia can lead to liver failure if not treated.
True
Fill in the blank: The primary treatment for biliary atresia is _______.
Kasai procedure
Which age group is most commonly affected by biliary atresia?
Infants, typically diagnosed within the first few months of life.
What are common symptoms of biliary atresia?
Jaundice, pale stools, dark urine, and enlarged liver.
What is the Kasai Classification used for?
The Kasai Classification is used to categorize the severity of biliary atresia.
True or False: The Kasai Classification has three main types.
False: It has four main types.
Fill in the blank: The four types of the Kasai Classification are Type I, Type II, Type III, and Type _____.
IV
Which type of Kasai Classification indicates the most severe form of biliary atresia?
Type III
What is the primary goal of the Kasai procedure in relation to biliary atresia?
To restore bile flow from the liver to the intestine.
What is a tracheo-oesophageal fistula?
A tracheo-oesophageal fistula is an abnormal connection between the trachea and the oesophagus.
True or False: Tracheo-oesophageal fistula is a congenital condition.
True
Fill in the blank: The most common type of tracheo-oesophageal fistula is the __________ type.
Type C
What are common symptoms of tracheo-oesophageal fistula in infants?
Common symptoms include coughing, choking during feeding, and difficulty breathing.
Multiple Choice: Which diagnostic procedure is commonly used to confirm tracheo-oesophageal fistula?
B. Contrast esophagography
What is the primary treatment for tracheo-oesophageal fistula?
Surgical repair is the primary treatment.
True or False: Tracheo-oesophageal fistula can lead to aspiration pneumonia.
True
What is the role of a nasogastric tube in managing tracheo-oesophageal fistula?
A nasogastric tube can be used to decompress the stomach and prevent aspiration.
Multiple Choice: Which of the following is NOT a potential complication of tracheo-oesophageal fistula?
C. Diabetes mellitus
What is the typical presentation of tracheo-oesophageal fistula in a newborn?
The newborn may present with excessive drooling, inability to pass a nasogastric tube, and respiratory distress.
What is malrotation?
Malrotation is a congenital condition where the intestines do not properly rotate during fetal development.
True or False: Malrotation can lead to intestinal obstruction.
True
Fill in the blank: The most common symptom of malrotation in infants is _______.
bilious vomiting
Which imaging technique is commonly used to diagnose malrotation?
Upper gastrointestinal series (UGI series)
What is the primary treatment for malrotation?
Surgical intervention to correct the position of the intestines.
At what age groups can malrotation occur? [3]
- Neonatal Period
- Weaning of Milk —> Introduction solids
- < 1yrs
What AXR finding due to commonly see in Malrotation?
Absent Bowel gas RLQ (colonic)
What are the typical histological features of Coeliac Disease? [4]
- Crypt Hyperplasia
- Villous Atrophy
- Intraepithelial Lymphocytosis > 30/100
- Lamina Propria inflammation
What GI pathologies are associated with Downs Syndrome T21 ? [2]
1.) Duodenal Atresia [20-40%]
2.) Hirschsprung’s Disease
What is the 1st line management in Crohn’s Disease?
Exclusive Enteral Nutrition [ENN]
- High Protein Diet 6-8 wks, shows superior mucosal healing.
What is Faecal Calprotectin?
Soluble proteins from Neutrophils, which is shed into in the lumen of the intestine & detected in the stool
What is the primary goal of management in paediatric ulcerative colitis?
To induce and maintain remission while ensuring optimal growth and development.
True or False: Biologic therapies are commonly used in the management of paediatric ulcerative colitis.
True
Fill in the blank: The first-line treatment for mild to moderate ulcerative colitis in children is __________.
5-aminosalicylic acid (5-ASA) compounds
What are the typical symptoms of ulcerative colitis in children?
Diarrhea, abdominal pain, rectal bleeding, and urgency.
Which dietary approach is often recommended for children with ulcerative colitis?
A well-balanced diet with possible supplementation to address nutritional deficiencies.
What is the pathognomonic findings of Hirschprung’s disease?
Recto-sigmoid ratio reversal
[Narrow Rectum, dilated proximal colon]
“Transition Zone”
What cardiac abnormality is critical to determine prior to surgery TOF-patients?
Right Sided Aortic Arch
(Surgical Approach Right Thoracotomy)
What is the Dx:
Toddler presents with frequent loose watery stools with Undigested Food items ?
Toddler’s Diarrhoea: 2o-Fruit Juice
High Fructose + Sorbitol can provoke.
What are the Fat-soluble Vitamins?
Vit. [ADEK]
What is Peutz-Jeghers syndrome?
Peutz-Jeghers syndrome is a genetic condition characterized by the presence of hamartomatous polyps in the gastrointestinal tract and mucocutaneous pigmentation.
True or False: Peutz-Jeghers syndrome is an autosomal dominant disorder.
True
Fill in the blank: Individuals with Peutz-Jeghers syndrome have a higher risk of developing ________ cancer.
various types of
Which gene is commonly associated with Peutz-Jeghers syndrome?
STK11 (also known as LKB1)
What are the common clinical features of Peutz-Jeghers syndrome?
The common clinical features include intestinal polyps, mucocutaneous pigmentation (freckling), and increased cancer risk.
How do patients with Duodenal Atresia present?
Background: Polyhydramnios
Vomiting in day 1-2 of life
What proportion of patients with Duodenal Atresia have T21?
1/3
What are the Histological features of biliary atresia? [6]
- Bile-duct proliferation
- Bile-duct Fibrosis
- Portal System Oedema
- Portal system inflammation
- Portal system fibrosis
- Bile-duct plugs
What part of the GIT is affected in Malrotation?
Mid-gut abnormal 270-degree rotation
Distal Duodenum
What is Galactosaemia?
An Enzyme deficiency: [AR, Ch9]
galactose-1-phosphate uridyltransferase —> inability to metabolise lactose + galactose
What are the symptoms of Galactosaemia, and how does it present?
Hypoglycaemia
Hypotonia
Prolonged Jaundice
Sepsis - > E.Coli prone infections
B/L Cataracts
What investigation findings would you expect to see in a patient with Galactosaemia?
Normal:
- Blood Glucose
- Urine Glucose
- Ammonia
- Lactate
Positive:
+ Urinary Reducing substances
How does hereditary fructose intolerance present?
Upon introduction of Fructose in the Diet:
- Liver Damage
- Hepatomegaly
What is Von Gierke Disease?
Glycogen Storage Disease-type 1
(GSD I)
- defective glucose production from glycogen.
What is Apo-B deficiency?
[AD] Mutations lead to Apo-B-100 reduced affinity for LDL receptors.
This leads to raised LDL-levels in the Blood.
What is Apolipoprotein CII deficiency?
Impaired clearance of Chylomicrons in the blood —> Raises Triglyceride Blood levels —>
1. Xanthomas +
2. Increased CVD risk
3. Pancreatitis risk
What is Apo-E deficiency?
Leads to Raised Cholesterol Levels.
What diseases is Apo-E deficiency associated with? [5]
- Alzheimer’s
- Lewy Body Dementia
- Age-related Hearing Loss
- Age-related Macular degeneration
- CVD risk
What type of feed would be most appropriate for a newborn with suspected Galactosaemia ?
Casein-Hydrolysate formula
(Hydrolysed Casein Protein formula)
- Hypoallergenic
- Lactose + Galactose Free / reduced
What are the complications of PKU?
Untreated mother’s with PKU, high levels of phenylalanine crosses placenta.
- Developmental delay
- Learning disability
- CHD (Murmur)
What Hormones are secreted in a sleep-related fashion?
- Prolactin
- Growth Hormone
How are levels of Growth Hormone measured?
Stimulated Hormone Test:
Pre + Post Levels of GH are measured in response to a Glucagon.
What is Chvostek’s sign?
Tapping of the parotid glands —> stimulates the facial nerve —>
Twitching of the facial muscles
What is the mutation that causes X-Linked Hypophosphataemia [XLH]?
(Vit.D-resistant Rickets)
PHEX-gene mutation
What causes the loss of PO4- in XLH?
Renal phosphate wasting
What are the clinical features of XLH?
Rickets-like features:
1. Bowing of legs
2. Growth Retardation
3. Dental anomalies (abscess -/- carries)
What Invx are indicative of XLH?
Normal Calcium
Normal Vit.D
Mild PTH [H]
Low PO4- [L]
List 4 Causes of Hypoketotic Hypoglycaemia ?
- Hyperinsulinism
- Fat Oxidation Defects [MCADD]
- Liver Failure (site of fat oxidation)
- Mitochondrial disorders
What mutation leads to MEN type-2?
Autosomal Dominant [AD]
RET-mutation
NB - Marfanoid Habitus association
What are the clinical manifestations of MEN-2? [4]
- Medullary Thyroid Carcinoma
- Phaeochromocytoma
- Hyperparathyroidism
What is Barth syndrome ?
X-linked mitochondrial disorder, primarily affects cardiolipin metabolism, can lead to 2o-mitochondrial dysfunction.
What are the clinical features of Barth syndrome?
X-linked (>boys)
- Dilated Cardiomyopathy
- Neutropenia
- Methylglutaconic aciduria
- Hypotonia —> Skeletal myopathy
- Poor feeding
- Faltering growth
- Hepatomegaly
How is Barths Disease managed?
- Optimise Nutrition
- Immune support
- Prophylactic Antibiotics / Aggressive Abx Tx of Infections
- GCSF
What is the gene mutation that causes Barth Syndrome?
Xq28
Tafazzin (TAZ) gene —> E-Transacylase
This is responsible for the remodelling of cardiolipin on the inner phospholipid mitochondrial membrane
—> Defective Cardiolipin Metabolism
What is the gene mutation that causes Barth Syndrome?
Xq28
Tafazzin (TAZ) gene —> E-Transacylase
This is responsible for the remodelling of cardiolipin on the inner phospholipid mitochondrial membrane
—> Defective Cardiolipin Metabolism
Girl presents with hernia, Testicle is found in hernia sac, what’s the Dx…?
Complete Androgen Insensitivity
What is Caroli disease ?
“Re-Caroli”
Congenital disorder:
1. Intrahepatic bile-duct dilation
2. Recurrent Cholangitis
What concurrent infection is required in Hepatitis D infection to manifest disease?
Hepatitis B
What are the Vitamin K dependent clotting factors ..?
II, VII, IX, X
Minute Ventilation =
Tidal Volume (Vt) x Respiratory Rate (RR)
What parameter does Minute Ventilation most control …?
CO2 - clearance
ABO incompatibility MOA?
Antibodies against A & B blood groups are IgM (acute)
Rhesus disease antigens …?
IgG
How does IUGR increase the risk of Neonatal Hypoglycaemia ? [2]
- Increased insulin sensitivity
- Reduced Glycogen Storage
What enzyme is responsible for the conjugation of bilirubin?
(Unconjugated —> conjugated)
Insoluble. —> Soluble
Urine diphosphoglucuronyl Transferase [Enyzme-UDPT]
What aspect of the GIT does Hirschsprung’s Disease affect? [2]
- Submucosal layers
- Enteric Plexus
What are the common complications that arise from babies requiring exchange-transfusion?
- Hyperkalaemia (Blood-Products)
- Haemodynamic Instability
- Hypo/Hyper-glycaemia
- Hypocalcaemia
- Metabolic Acidosis
- Catheter-associated complications:
i) Air Emboli
ii) Phlebitis/infection
iii) Extravasation injury
Newborn ROP Criteria? [2]
- Born < 31 wks
- Birth weight < 1.5kg
What is the ROP Screening schedule for Premature babies?
If born before <31wk [31-31+6wks)
Or
4-5 wks CGA (whichever is later)
If born >31wks [36wks CGA]
weight does not affect timing of ROP screening
What is the MOA of CDH?
Failed closure of pleuroperitoneal canals
What is the pathophysiology of Hereditary Angioedema ?
[AD] - inheritance
Type 1 - deficiency in C1-esterase INH
Type 2 - defective C1-esterase INH
Increased Kallikrein release +
Unregulated Bradykinin production —> vasodilation + capillary leakage —>
Angioedema attacks
How does hereditary Angioedema present..?
Episodic Attacks in childhood —> progress in adolescence.
- Erythematous (non-pruritic) rash
- Prodrome of tightness/tingling or swelling of the area.
- Attack of abdominal pain due to oedema of the GIT, associated
constipation
diarrhoea
oral mucosal or lip swelling
Cutaneous non-pitting oedema:
- dorsum of the hands
- feet
Laryngeal Oedema —> Airway Obstruction
What is the treatment for HAE?
- Avoidance of precipitating factors:
- Stress
- ACEi
- HRT / Contraception (Oestrogen) - Prophylaxis:
- Antifibrinolytics [TXa]
- Human Plasma C1INH infusions
- Lanadelumab - Tx Acute Attacks
- purified C1INH
- Ecallantide [Kallikrein INH]
- Icatibant
[Bradykinin Type 2-R antagonist]
Boy with Hx Tinea capitis, pc with fluctuant red boggy swelling, fever + localised lymphadenopathy
What is the diagnosis?
What is the 1st line Tx?
Kerion: fungal-hypersensitivity reaction
Mx: (6-8wks)
1. Griseofulvin
2. Terbinafine
What are the investigations for HAE ?
- 85% deficiency-C1INH
- 15% functional-C1INH
- Low C-4 levels
What is the process that causes hyper-acute renal-transplant rejection ?
Preformed circulating Ab’s react with MHC-I on the Transplanted kidney —> complement activation, influx of polymorphs + platelet aggregation —> vascular obstruction —> ischaemia
What are IgE-mediated Food allergens?
Milk
Eggs
Soy
Wheat
Peanuts
Tree-Nuts
Fish
Shellfish
What is Latex-fruit syndrome?
50% of people with Latex allergy have food allergies due to cross reactivity
Risks of Congenital Rubella Syndrome ?
(8-10 wks) 90%
(11-16wks) 10-20%
(> 16wks) 0%
What foods cause Birch oral allergy syndrome?
- What months of the year does seasonal rhinitis occur for this allergen?
Raw Food Allergies: (cooking denatures)
- Stone Fruits
- Apples
- Carrots
- Potatoes
April - May
Symptoms usually resolve within an hour, mouth washing is sufficient.
What is X-linked agammaglobulinaemia?
Most common cause of immunoglobulin deficiency.
Abnormal gene B-cell tyrosine kinase,
Presents 3-6 months age when placental IgG levels drop.
Pc: Recurrent bacterial sinus + lung infections <2yrs
What is common variable immune deficiency (CVID) ?
Sporadic condition, 10% genetic, presents childhood — adulthood
Recurrent infections:
- Lung
- Ears
- Sinus
GI-infections
Lymphadenopathy
Splenomegaly
What is Chronic granulomatous disease [CGD] ?
[X-linked recessive]
1o-immunodeficiency:
Fungal Pneumonia,
Infections:
- Skin
- Liver
- Lymph node
What is severe combined immunodeficiency syndrome [SCID] ?
Group of Rare disorder 80% no FmHx
Recessive inheritance + X-linked
Severe:
- Bacterial
- Viral
- Fungal
- Yeast
What is Chédiak-Higashi syndrome?
Rare [AR] inherited condition: mutation in lysosomal trafficking regulator.
Severe infections in infancy
Oculocutaneous Albinism
Neurological symptoms
Clotting disorder
What is the 1st line Mx of Malaria.falciparum ?
Dual Therapy:
- Proguanil
- Atovaquone
What are the complications of Malaria? [4]
- Cerebral Malaria
- Severe Anaemia
- Respiratory abnormalities
- Renal Failure
What are the clinical symptoms of Malaria ? [7]
- Fatigue/Malaise
- Arthralgia
- Headache
- Cough
- Fevers
- GI-disturbances
- Jaundice
What pathogens commonly cause Necrotising Fasciitis in children?
- Group A Strep
- Staph.Aureus
- MRSA
What pathogen is carried by Reptiles & Snakes?
Salmonella Sp
What Antibiotics are recommended for treatment of Salmonella ? [2]
- Ciprofloxacin
- Cefotaxime
How do you test for allergens in Contact Dermatitis ?
Patch Test: (85-90%)
- Nickel
- Latex
- Chemicals (Perfumes/Fragrances)
What type of allergic reaction is Contact Dermatitis?
Delayed-type occurs after sensitisation 12-72 hours post re-exposure
T-cell mediated
What organism causes abdominal pain, bloating and chronic foul smelling stool + diarrhoea ?
Giardia Lamblia
What infection does Kingella Kingae cause ?
Osteomyelitis (6 months - 4yrs)
What organisms can cause Osteomyelitis in children ?
E.Coli (<1yrs)
Kingella Kingae (6months - 4yrs)
Type I - Hypersensitivity
ANAPHYLAXIS
Mast Cell - mediated
Type II - Hypersensitivity
IgM or IgG Mediated response:
AUTO-IMMUNE HAEMOLYTIC ANAEMIA
RHEUMATIC HEART DISEASE
Type III - Hypersensitivity
Immune-complex mediated
Nephritis
Serum Sickness
Reactive Arthritis
Type IV - Hypersensitivity
Delayed T-cell mediated:
Contact Dermatitis
Tuberculin reaction (Mantoux test)
What are the characteristics features of Typhoid Salmonella Typhi infection?
Incubation 7-14 days (few wks)
Week-1:
- Fever
- Mild Cough
- Headache
- Constipation abdominal distension
Week-2:
Pink-Papules Rose-Spots —> Bacterial embolisation.
Bradycardia
What is the common vector for Leishmaniasis ?
Sandfly
What is the clinical presentation of Leishmaniasis ?
Cutaneous Ulceration
(Bite-site)
What is the vector for Trypanosoma brucei Trypanosomiasis ?
Tsetse Fly
What are the clinical features of Trypanosoma brucei Trypanosomiasis ?
Painless Ulcer / Chancre
Fever
Headaches
Arthralgia
Lymphadenopathy
What pathogen is characteristic of causing food-poisoning within 1 hour of ingesting re-heated food ?
Staphylococcus Aureus Enterotoxin
What is the causative organism for food-poisoning from inappropriately stored rice.
Bacillus Cereuscan
What pathogen is associated with causing food-poisoning with pork, unpasteurised milk ?
Yersinia Enterocolitica > few day post ingestion
What causative organism is responsible for food poisoning 24-48 hrs post oyster ingestion ?
Vibrio Vulnificus
What is chronic granulomatous disease?
1o-immuno deficiency:
- defective phagocytes.
How do patients with chronic granulomatous disease [CGD] commonly present?
Catalase Positive (+) Organisms
S - Staph, Salmonella
P - Pseudomonas
A - Aspergillus
C - Candida
E - Enterobacteriaceae
[E.coli, Klebsiella, Salmonella, Serratia]
Dysregulated immune response: e.g.
colitis or pneumonitis
What is the diagnostic test for chronic granulomatous disease [CGD] ?
Dihydrorhodamine Neutrophil burst assay [DHR]: this assess neutrophil superoxide production
What is scrombotoxin ?
This is a form of histidine found in fish stored at room temperature, which contains large amounts of histimine, thus mimicking an allergic reaction.
What foods contain scrombotoxin ?
Fish:
- Tuna
- Mackrel
- Kingfish
What infections are characteristic of hypogammaglobulinaemia + Wiskott-Aldrich (1o-immunodeficiencies)
[X-Linked]
Resp:
- Haemophilus influenzae (b)
- Streptococcus Pneumoniae
- Staphylococcus Spp
- Neiseria meningitidis
- Moraxella catarrhalis
Recurrent Herpes
GI:
- Giardia Spp
- Campylobacter Spp
- Enterovirus [FATAL] —> (attenuated poliovirus)
What are the causes of 2o-immunodeficiency ?
HIV
Malignancy
What syndrome is associated with the PTPN11 mutation..?
Noonan’s Syndrome
What are the characteristic features of a child with Noonan’s syndrome…?
- Down-slanted palpebral fissures
- Webbed neck
- Systolic murmur
- Feeding difficulties
What is the classical Pierre Robin Seequence..? [3]
- Micrognathia
- Glossoptosis
- +/- Airway Obstruction
What are (9) Pulmonary HTN Risk-determinants…?
- Systemic Venous Sats <60%
- R.Artery + R.Ventricular enlargement
- Reduced LV size
- Increased RV:LV Ratio
- Pericardial Effusion
- Mean R.Atrial Pressure [mRAP] > 10mmHg
- 6min walk test (>6yrs) = < 350m
- Systemic cardiac index < 2.5L/min/m2
- Acute vasoreactivity
What condition is associated with situs-inversus?
Primary Ciliary Dyskinesia [PCD]
What are the histological features of alveolar capillary dysplasia..? [5]
- Thickening alveolar septum
- Arteriole Hypertrophy
- Abnormal positioning of pulmonary vein branches
- Reduced pulmonary capillaries
- Immature lobar development
In patients with T21, presenting with ULSE pansystolic murmur & superior-axis deviation on ECG?
AVSD - Atrioventricular Septal Defect
(33% of T21 patients)
What Hormone is low in PCOS?
SEX-hormone binding globulin
What hormone levels are high in PCOS?
LH + FSH
What enzyme is deficient in PKU?
Phenylalanine Hydroxylase:
This leads to the inability of the conversion of Phenylalanine —> Tyrosine
What amino acid is deficient in PKU?
Tyrosine
What does a positve Mantoux test indicate ?
Latent TB
Erythematous induration region > 5mm (unvaccinated) > 10mm (vaccinated)
What structure does the “Mesonephric Duct” develop into ?
Seminal vesicles
What antibiotic used in TB-treatment can lead to s/e peripheral neuropathy?
Isoniazid
Ions => affects Nerves
What findings on Haemoglobin electrophoresis are suggestive of Beta-Thalassaemia?
High HbF,
due to an inability to form beta chains thus HbA production is reduced
MOA Clarithromycin?
Inhibits Protein synthesis by binding ribosome 50s subunit
MOA Trimethoprim?
Inhibits bacterial folate synthesis:
Inhibits THFR enzyme
MOA Gentamicin?
Inhibits Protein synthesis by binding ribosome 30s subunit
What mineral forms a component of the cytochrome enzyme involved in myelin & connective tissue & iron utilisation…?
Cu2+ - Copper
Vitamin involved in GIT absorption & retention of Ca2+ & PO4- ?
Vitamin D
Intercellular component stored mainly in bone & is involved in muscle contraction …?
Mg2+ Magnesium
60% total stored in Bone
Involved in osteoblast activity + PTH, helping to regulate Ca2+ levels
Natural Ca2+ blocker helping muscles relax after contraction.
What does impact does low Mg2+ have on muscles…?
Inability to relax muscle => hyper contraction => cramps + spasms
What immunoglobulin is given in HDN …?
IV-IgG (IVIG)
Hep B vaccine is given within < 24hrs if…? Newborn of Chronic Hep B mothers (HBsAg + anti-HBs)
HB s +ve
HB e +ve
Monovalent vaccine
HBIG
What skin layer is the origin of Strawberry Naevi ?
Dermis
Dopamine in kidneys…?
Dosage dependant: increase Na+ excretion & increases Urine output
