3A revision Flashcards
Name 5 conditions that are tested for in Newborn Screening (Guthrie, heel-prick test)?
Cystic Fibrosis – tests immunoreactive trypsinogen (IRT)
Sickle Cell Disease
Congenital hypothyroidism – prevent cretinism – tests TSH
Phenylketonuria – tests phenylalanine
Medium-chain-acyl Coenzyme A (MCCAD) deficiency
Maple Syrup Urine Diseae
Galactosaemia
Homocystinuria
What Causes Phenylketonuria? Name 5 Features?
Autosomal recessive – mutation of the PAH gene (Phenylalanine hydroxylase) on chromosome 12 – ↓PAH enzyme
Amino acid phenylalanine cannot be converted to tyrosine
Accumulation of phenylalanine – converted to phenylketones
Phenylalanine (crosses the blood brain barrier) → intellectual disability
Tyrosine – important in production of neurotransmitters (norepinephrine, epinephrine, Dopamine) – in the adrenal medulla
Learning difficulties
Musty urine
Microcephaly
seizures
What is Kernicterus? Name 5 Signs?
Deposition of Unconjugated bilirubin in the basal ganglia
Irritability Poor feeding Opisthotonas (back arching tetanic convulsions) Seizures coma
Choreoathetoid Cerebral Palsy
Sensineural deafness
Learning difficulties
Name 5 characteristic features of Downs Syndrome?
Trisomy 21
Flat occiput Third fontanelle Wide, flat nasal bridge Epicanthic folds Up-slanting mongoliod eyes (palpebral fissures) Brushfield spots in iris Low-set small ears Small mouth – protruding tongue Single palmar crease (simian) Wide Sandle gap Incurved little finger – clinodactyly Hypotonia
Name 5 associations of Downs Syndrome?
Moderate to severe Learning Disabilities Congenital heart disease – atrioventricular septal defect Duodenal atresia Hirschprung’s disease Hypothyroidism Coeliac disease Hearing impairment from secretory otitis media Obstructive Sleep Apnoea Visual impairment from cataracts, squints, myopia (short-sightedness) Delayed motor milestones Short stature ↑ susceptibility to infection ↑ risk of leukaemia and testicular tumours ↑ risk of atlanto-axial instability Epilepsy Alzheimer’s Disease Infertility
Name 3 modes of inheritance of Downs Syndrome?
Meiotic Non-disjunction
Robertsonian Translocation
Mosaicism
Translocation – the extra 21 chromosome is joined onto another chromosome (normally chromosome 14)
Mosaicism – some cells are normal, some have trisomy 21 - milder phenotype. Normal zygote, with later mitotic non-disjunction
What is Edwards Syndrome? Name 5 features?
Trisomy 18 - ♀ > ♂ Prognosis: most die in utero, 50% die in 1 week. Low birth weight Prominent occiput Small head (microcephaly) Low-set malformed ears Narrow eye-lid fold, palpebral fissure Ocular hypertelorism – wide-spaced eyes, and Ptosis Clenched fist and overlapping fingers Rocker-bottom feet (club feet) Short sternum Small jaw (micrognathia) Cardiac malformations – ventricular septal defect, atrial septal defect, patent ductus arteriosus Kidney malformations
What is Patau Syndrome? Name 5 features?
Trisomy 13
Prognosis: most die within first year of life
Holoprosencephaly – failure of the forebrain to divide properly
Small head (microcephaly)
Small eyes (microphthalmia)
Cataracts, retinal dysplasia / detachment
Polydactyly
Proboscis – blind-ending tube on mid-face
Cleft lip / palate
Kidney defects
Heart defects – ventricular septal defect, patent ductus arteriosus)
Intellectual disability
What is Turner’s Syndrome? Name 5 features?
45 XO ♀ (missing / partial X chromosome)
Short stature Webbed neck (due to cystic hygroma) Lymphoedema of hands and feet in neonate Wide-carrying angle (cubitus valgus) Widely spaced nipples, shield chest Spoon shaped nails Low set ears Low posterior hair-line Short metacarpal IV Pigmented moles Normal Intellect Non-verbal learning disabilities (maths, spatial orientation) Primary Amenorrhoea (due to ovarian dysgenesis) – infertility Delayed puberty Congenital heart defects:- coarctation of the aorta- aortic stenosis- bicuspid aortic valve Renal anomolies (horse-shoe kidney) Hypothyroidism Diabetes ADHD Recurrent Otitis Media / hearing loss Visual impairments
Name 3 Signs of Turner’s Syndrome at Antenatal Fetal ultrasound Scans?
Fetal oedema of the neck, hands and feet
Cystic hygroma
Structural defects of the heart, kidneys
Cystic hygroma is a form of benign lymphangioma – most common in the posterior triangle of the neck
What is Klinefelter Syndrome? Name 5 features?
47 XXY
Hypogonadism - ↓testosterone - ↑FSH Micro-ochidism (small firm testes) Infertility Gynecomastia Weaker muscles Tall stature Poor coordination Less body hair Normal intelligence Behavioural problems, delayed speech, Reading difficulties
Most common cause of male hypogonadism
Diagnosed with delayed puberty
Name 2 most common genetic causes of Learning Difficulties?
Downs syndrome
Fragile X Syndrome
What is Fragile X Syndrome? Name 5 features?
X-linked Recessive – more common in ♂
Caused by >200 trinucleotide (CGG) repeats in the FMR1 gene on the X chromosome
FMR1 – fragile X Mental retardation= gene
Female carriers have mild-moderate learning disabilities
Moderate-severe learning difficulties Macrocephaly Macro-orchidism (large testicles) Long faces Large everted ears Prominent mandible Broad forehead Mitral valve prolapse Joint laxity Scoliosis Autism Hyperactivity
Name 3 genetic conditions caused by Trinucleotide Repeat Expansion Mutations?
Fragile X syndrome Myotonic Dystrophy Huntington’s Disease Spinocerebellar ataxia Friedreich’s ataxia
These genetic disorders become more severe as the triplet expands
How is Duchenne’s Muscular Dystrophy inherited?
X-linked recessive ♂
Most common muscular dystrophy
Mutation (non-sense or frame-shift) in the gene coding for dystrophin on short arm of X chromosome
No dystrophin protein (normally attaches actin to the extracellular matrix to stabilise the sarcolemma (muscle cell membrane)
Influx of Ca2+ ions – causes myofibre necrosis
→ progressive muscle atrophy
Muscle weakness
Age onset – 5 years, life expectancy = 20’s
Name 5 Signs and Symptoms of Duchenne’s Muscular Dystrophy?
Waddling Gait
Gower’s sign – use their arms to ‘walk’ up their body from sitting / lying position – due to lack of hip / thigh muscle strength
Calf pseudohypertrophy – replacement of muscle by fat / fibrous tissue
Slow and Clumsy
Learning disabilities
Cardiomyopathy
Respiratory failure – due to loss of function of diaphragm and intercostal muscles – leads to death
Scoliosis
What blood test would you perform in Duchenne’s Muscular Dystrophy?
↑ creatinine kinase
What is Becker’s Muscular Dystrophy?
Milder form of Duchenne’s Muscular Dystrophy
Missense mutation of the dystrophin gene on the X-chromosome
Some Dystrophin proteins are made
Later age of onset (11 years)
↑ life expectancy
What is Congenital Adrenal Hyperplasia (CAH)?
Autosomal recessive
Defect in the gene for 21-hydroxylase enzyme – needed to make mineralocorticoids and glucocorticoids from the precursor 17-hydroxyprogesterone.
↓mineralocorticoid and glucocorticoid
no negative feedback to the anterior pituitary - ↑ACTH
increases secretion of androgens ↑
Name 5 feature of Congenital Adrenal Hyperplasia (CAH)?
Due to ↓mineralocorticoids (aldosterone):
Salt-losing crisis - Vomiting, dehydration, weight loss, floppiness, collapse
Due to ↓glucocorticoids (cortisol):
Hypoglycaemia
Due to ↑androgens
Virilisation of the external genitalia in female infants – clitoral hypertrophy, fusion of labia
In male patients, penis can be enlarged, pigmented scrotum
Precocious puberty
Non-salt losers – tall stature, muscular build, pubic hair, acne
Name 3 Laboratory findings of Congenital Adrenal Hyperplasia (CAH)?
Hypoglycaemia – (↓ glucose) – due to ↓cortisol
Hyponatraemia – (↓ sodium) – due to ↓aldosterone
Hyperkalaemia – (↑ potassium) – due to ↓aldosterone
Metabolic acidosis
↑ urea (dehydration)
↑17α-hydroxyprogesterone
↑ACTH (adrenocorticotropic hormone) – loss of negative feedback of cortisol
→ androgens ↑
What is the treatment of Congenital Adrenal Hyperplasia (CAH)?
Hydrocortisone
Fludrocortisone
Lifelong
Describe the Parts and Functions of the Adrenal Gland?
Adrenal Cortex: GFR
Zona Glomerulosa – mineralocorticoids, e.g. Aldosterone
Zona Fasciculata – glucocorticoids, e.g. cortisol
Zona Reticularis – androgens, e.g. dehydroepiandrosterone (DHEA)
Adrenal Medulla – chromaffin cells – convert tyrosine to catecholamine’s, e.g. epinephrine, norepinephrine
What is the risk with treating hyponatraemia quickly?
↑risk of cerebral pontine myelinolysis (CPM)
Damage to the myelin sheath of nerves in the brainstem (pons)
Paralysis, dysphagia, dysarthria
↑ sodium too quickly - drives water out of brain cells
Treatment of Salt-losing crisis in CAH: IV dextrose and IV hydrocortisone
Name 5 Complications of Gastro-oesophageal Reflux Disease (GORD)?
Failure to thrive
Sandifer’s syndrome – Distonic neck posturing
Recurrent Pulmonary Aspiration – pneumonia
Oesophagitis
Apparent Life Threatening events (ALTE)
What is Noonan Syndrome? Name 5 features?
Autosomal dominant – RASopathy
Congenital heart defect:- pulmonary valve stenosis- atrial septal defect- hypertrophic cardiomyopathy Short stature Pectus excavatum Webbed neck Impaired blood clotting Learning difficulties
Name 3 diseases caused by Deletion Mutations?
Di Georges Syndrome (CATCH-22)
Williams syndrome
Cru de chat syndrome
What is Williams Syndrome? Name 5 features?
Microdeletion syndrome at 7q11 – autosomal dominant inheritance
Short stature Elf-like facies Transient hypercalcaemia in infants Supravalvular aortic stenosis Mild-moderate learning difficulties
What is DiGeorges Syndrome? Name 5 features?
Microdeletion syndrome – deletion at 22q11.2 – autosomal dominant
CATCH-22
Cardiac – interrupted aortic arch, truncus arteriosus, tetralogy of Fallot
Abnormal facies
Thymic aplasia – recurrent infections due to ↓T cells Thymic aplasia – Thrombocytopenia
Cleft Palate – problems with neuromuscular closure (velopharyngeal insufficiency) → feeding difficulties
Hypoparathyroidism, hypocalcaemia → convulsions
How is DiGeorge’s Syndrome Diagnosed?
Genetic analysis performed using Fluorescence in situ hybridisation (FISH) – detects the microdelection on chromosome 22.
What is Imprinting? Name 2 conditions caused by Imprinting and 2 mechanisms of Inheritance?
Genes required for normal functioning only comes from one parent.
Prada Willi Syndrome
Angelman’s Syndrome
Inherited by 2 ways:
De novo deletion mutation
Uniparental Disomy – both the chromosomes come from 1 parent, and none from the other.
What is Prada Willi Syndrome? Name 5 features?
Caused by failure to inherit a functioning paternal copy of the Prada Willi gene on the long arm of chromosome 15 (15q11-13) – due to de novo deletion (75%) or uniparental disomy (both copies of chromosome 15 come from mother)
In infancy:
Hypotonia
Poor feeding (due to ↓muscle tone affecting the sucking reflex)
In childhood: Excessive appetite (hyperphagia) Obesity / short stature Developmental delay Hypogonadism Strabismus Low IQ Narrow forehead Thin upper lip Carp-shaped mouth Olive-shaped eyes (antimongoloid slant) / \
What is Angleman Syndrome? Name 5 features?
Caused by failure to inherit a functioning maternal copy of the Prada Willi gene on the long arm of chromosome 15 (15q11-13) – due to de novo deletion (75%) or uniparental disomy (both copies of chromosome 15 come from father)
Happy disposition, laughing Little speech Severe learning disabilities Poor attention span epilepsy – variety of seizures Sleep disturbance Jerky movements – hand flapping Movement / balance disorder (ataxia)Motor developmental delay Microcephaly Strabismus Abnormal EEG – large amplitude, slow spike waves
Name 5 Cyanotic Congenital Heart Diseases?
- Tetralogy of Fallot (ToF)
- Transposition of the Great Arteries (TGA)
- Truncus Arteriosus
- Tricuspid Atresia
- Total Anomalous Pulmonary Venous Connection (TAPVC)
shunt from right to left
What syndrome is associated with Truncus Arteriosus?
DiGeorges Syndrome (22q11.2) - Truncus Arteriosus - Tetralogy of Fallot
What are the 4 features of Tetralogy of Fallot?
Pulmonary stenosis
Right Ventricular Hypertrophy
Large ventricular septal defect (VSD)
Over-riding aorta
What is the characteristic X-ray finding in Tetralogy of Fallot?
Boot-shaped heart (due right ventricular hypertrophy)
Reduced pulmonary vasculature (as stenosis causes ↓ pulmonary blood flow)
Concave pulmonary artery on the left heart border
Right sided aortic arch
Name 3 symptoms of heart failure?
Breathless (particularly on feeding / exertion)
Poor feeding
Sweating
Recurrent chest infections
Name 3 signsof heart failure?
Tachycardia Tachypnoea Hepatomegaly Pulmonary oedema Heart murmur, gallop rhythm Enlarged heart Cool peripheries Poor weight gain, faltering growth
Name 4 causes of heart failure in a neonate?
Due to Left-ventricular out-flow obstruction
↑ Pulmonary resistance, R → L shunt via the ductus arteriosus (duct dependent circulation)
Severe coarctation of the aorta
Critical Aortic valve stenosis
Hypoplastic left heart syndrome
Interruption of the aortic arch
Name 3 causes of heart failure in an infant?
Due to high pulmonary blood flow (L → R shunts)
Ventricular septal defect
Atrial septal defect
Patent ductus arteriosus
Name 3 causes of heart failure in older children / adolescents?
Eisenmenger syndrome (reversal of shunt causing R → L shunt)
Rheumatic heart disease
cardiomyopathy
Name 5 causes of cyanosis in a neonate?
Congenital heart disease:
tetralogy of fallot
transposition of great arteries
Respiratory diseases: Respiratory distress syndrome Persistent pulmonary hypertension of the newborn Meconium aspiration Pulmonary hypoplasia
Infection:
Group B streptococcus
Metabolic acidosis
What is birth asphyxia?
Deprivation of oxygen to the neonate (<4 weeks old), that lasts long enough to cause physical harm (usually to the brain)
Name 5 Signs of Dehydration?
Reduced level of consciousness ↓ Sunken fontanelle Sunken eyes Dry mucous membranes Reduced urine output ↓ Reduced skin turgor ↓ Tachycardia ↑ Tachypnoea ↑ Low blood pressure ↓ Increased capillary refill time ↑ Cool peripheries Faint / impalpable pulse
Mild dehydration = <5%
Moderate = 6-9%
Severe = >10%
How do you calculate Maintenance Fluids? Calculate the 24 hourly amount for a 26kg, 7 year old girl?
First 10kg = 100ml/kg/24 hour
Second 10kg = 50ml/kg/24 hour
Subsequent kilograms = 20ml/kg/24 hour
1620ml 0.9%NaCl +5% dextrose
Name 3 factors which contribute to Airway narrowing in Asthma?
Bronchial muscle contraction
Mucosal swelling / inflammation – caused by mast cell / basophil degranulation → release in inflammatory mediat
Increased mucus production
Name 3 features of a Severe Asthma Attack?
Inability to complete sentences / feed
Pulse > 140bpm
Respiratory Rate > 40/min if <5yrs, >30/min if 5-12yrs, >25/min if >12yrs
Peak Flow = 33-50% predicted
Name 3 features of Life Threatening Asthma?
Silent Chest Fatigue / exhaustion / confusion / LOC / coma Cyanosis Peak flow <33% predicted Poor respiratory effort
Near fatal attack – PaCO2 ↑
Name 3 features of ADHD? Name 3 other symptoms?
Triad:
Inattention - problems paying attention
Hyperactivity - excessive activity
Impulsiveness - difficulty controlling behaviour
♂ (behaviour is not appropriate for age)
Cause problems in 2 different settings (e.g. school, home)
Symptoms present > 6 months
Impaired concentration Distractibility Difficulty taking turns Social disinhibition – poor relationships Fidgety Disorganised Short-tempered Poor recall of past or future planning
What is the treatment of ADHD?
Mild – moderate ADHD:
Behavioural psychotherapy / CBT
Parenting behavioural training (e.g. rewards)
Teacher classroom management
Severe ADHD: (Medication)
Stimulants (↑ dopamine)
- Methylphenidate (Ritalin)
- Dextroamphetamine
Side effects:
Dry mouth
Loss of appetite
Insomnia
What is Erythema Multiforme associated with? Describe the Rash?
Rash with target lesions with a surrounding red ring
Causes:
Drug reactions – penicillin, NSAIDs, Phenytoin
Infection – atypical pneumonia, herpes simplex virus (cold sores)
Idiopathic
What is the criteria for Rheumatic Fever?
JONES Criteria:
Evidence of a recent Group A β-haemolytic streptococci (Strep Pyogenes)
+ 2 major criteria or 1 major + 2 minor criteria
Major:
Joints – polyarthritis, migratory, larger joints
Obvious – carditis
Nodules – subcutaneous nodules
Erythema marginatum – rash with raised edges and a clear centre
Syndenham’s Chorea
Minor: Inflammatory cells - leuocytosis Temperature ESR + CRP Raised PR interval Itself – Previous Rheumatic Fever Arthralgia
Name 2 complications of Eczema and the causative organisms?
Cellulitis (bacterial super infection) – caused by gram positive cocci (staphylococcus aureus, streptococci). Treat with – flucloxacillin
Eczema Herpeticum – caused by herpes simplex virus Treat with – Acyclovir
What organism causes Chicken Pox? What organism causes Shingles?
Chicken pox – varicella zoster virus - reactivation of this virus, which lies dormant in the dorsal root ganglion causes Shingles.
Shingles – herpes zoster virus
Name 3 Complications of Varicella Zoster Infection (Chicken Pox)?
Secondary bacterial infection (staphylococcus aureus, group A streptococcus) → toxic shock syndrome, necrotising fasciitis
Encephalitis, cerebellitis, aseptic meningitis
Disseminated intravascular coagulation (DIC)
Purpura fulminans
Name the conditions in the Fraser Guidelines? What is this used for?
To give contraception to young people under 16 years. The professional must be satisfied that:
the young person understands the professional’s advice
The young person cannot be persuaded to inform their parent
The young person is likely to begin / continue having sexual intercourse with or without contraception
Unless the person receives contraceptive treatment, their physical or mental health are likely to suffer
Offering contraception is in the young person’s best interest
What is Gillick Competence?
When making medical decisions involving consent, a child < 16 years, must be:
Able to understand the advice give
With sufficient maturity to understand what is involved
(N.B. even though a child under the age of 18 can consent to treatment if they show the ability/maturity, they can not refuse medical treatment that is in their best interests)
Name 3 causative organisms for Meningitis in infants <3 months old?
Group B streptococcus (streptococcus agalactiae)
E.Coli (Escherichia Coli)
Listeria monocytogenes
Define Cerebral Palsy? Name the 3 types?
an abnormality of movement and posture
Causing activity limitation
due to a non-progressive disturbance that occurred in the developing fetal or infant brain (up to age 2 years).
Spastic cerebral palsy – damage to UMN pathway
Dyskinetic (Athetoid) cerebral palsy – damage to basal ganglia
Ataxic cerebral palsy – damage to cerebellum
What age group do Febrile convulsions occur in? Name the 2 types?
Age 6 months – 5 years
due to a rapid rise in fever
Simple febrile seizures:
Generalised tonic-clonic seizures
Brief (usually last < 15 minutes)
Single episode
Complex febrile seizures: Focal onset Last > 15 minutes Repeated (>1 seizure in 24 hrs) ↑risk of epilepsy
Name 5 Epilepsy Syndromes common in childhood?
Infantile spasms - West Syndrome
Lennox-Gastaut Syndrome
Absence Seizures
Juvenile Myoclonic Epilepsy
Benign epilepsy with centrotemporal spikes (BECTS)
Early-onset Benign childhood occiplital epilepsy (Panayiotopoulos type)
Name 4 features of an innocent murmur?
InnoSent Murmurs: aSymptomatic patient Soft blowing murmur Systolic murmur Left Sternal edge Normal heart sounds, with no added sounds No parasternal thrill or heaves No radiation
Name the cause and 3 symptoms of Toxic Shock Syndrome?
Due to toxin-producing staphylococcus aureus, Group A streptococcus
Fever > 39°C
Hypotension
Diffuse erythematous macular rash
+ Organ dysfunction (mucositis, GI, Renal, Liver, Clotting, CNS)
What is the treatment of Toxic Shock Syndrome?
Third generation cephalosporin (ceftriaxone)
Clindamycin (aminoglycoside – inhibits protein synthesis - ↓toxin production)
Intravenous Immunoglobulin (IVIG) – neutralise the toxin
Name 3 Causes of Conductive Hearing Loss?
Otitis media with effusion
Ear-wax
Eustachian tube dysfunction:- Downs syndrome- Cleft Palate- Pierre Robin Sequence (congenital causes of abnormal facies)- Mid-facial hypoplasia
Weber’s test – sound lateralises (louder in) affected ear
Rinnie’s test – Bone conduction > air conduction
Rinnie’s test (normal / positive) – air conduction > bone conduction
Weber’s test (normal) – sound heard equally in both ears
a child with conductive hearing loss, only receives sound from bone conduction – so it is perceived to be louder
Name 3 Causes of Sensorineural Hearing Loss?
Antenatal: - congenital infection – Rubella - pre-term - Hypoxic Ischaemic Encephalopathy - hyperbilirubinemia
Meningitis / encephalitis
Head injury
Drugs (aminoglycosides – gentamicin, furosemide)
Neurodegenerative disorders
Weber’s test – sound lateralises (louder in) normal ear
Rinnie’s test – air conduction > bone conduction (both reduced)
Name 2 Causes of asplenism? What sign do you see on the blood smear?
Splenectomy
Sickle cell disease
Coeliac disease
Howell-Jolly bodies – basophilic nuclear remnants in the cytoplasm (normally removed by the spleen)
Name 2 Risk Factors for Pneumococcal Infection?
Hyposplenism – impaired opsonisation of encapsulated organisms
Nephrotic syndrome – leakage of immunoglobulins from the blood, and oedema
Unvaccinated
Pneumococcal is an encapsulated organism – macrophages in the spleen normally phagocte
How is Nephrotic Syndrome Diagnosed?
Proteinuria >1g/m2/24hrs, >40mg/m2/1hr, >3.5g/24hrs Serum albumin <25g/L (hypoalbuminaemia) Oedema - periorbital oedema (on waking) - scrotal / vulval oedema
Name 3 features which suggest Steroid-sensitive Nephrotic syndrome?
Age between 1 – 10 years No macroscopic haematuria Normal blood pressure Normal complement levels Normal renal function
Indications for Renal Biopsy: Age <12 months, >12 years Macroscopic haematuria Raised blood pressure Decreased complement levels Reduced renal function Failure to respond to 1 month of daily steroid therapy
Name 3 symptoms of Measles?
Cough Coryza Conjunctivitis Koplik spots Fever Maculopapular rash – starts behind ears and spreads to body, (desquamates during second week)
Name 3 complications of Measles?
Encephalitis Subacute sclerosing panencephalitis (SSPE) – occurs ∞ 7 years after infection - virus persists in the CNS and causes ↓neurological function → dementia → death Seizures, febrile convulsions Pneumonia, tracheitis Secondary bacterial infection Corneal ulceration Myocarditis Hepatitis Appendicitis
Name 3 symptoms of Mumps?
Fever Malaise Parotitis - bilateral parotid gland swelling: - difficulty eating / drinking - ear ache Hearing loss (unilateral, transient)
Name 3 Complications of Mumps?
Pancreatitis (serum amylase is raised) Orchiditis Encephalitis Viral meningitis Rarely oophoritis, mastitis
Name 3 Signs & Symptoms and 3 complications of Rubella?
Maculopapular rash – starts on the face → body
Post-auricular and Suboccipital lymphadenopathy
Low grade fever
Complications: Arthritis Encephalitis Thrombocytopenia myocarditis
Avoid pregnant women – congenital diseases
What are the signs and symptoms of congenital rubella?
The classic triad for congenital rubella syndrome is:
Sensorineural deafness
Eye abnormalities—especially retinopathy, cataract, and microphthalmia
Congenital heart disease—especially pulmonary artery stenosis and patent ductus arteriosus
Other manifestations:
Spleen, liver, or bone marrow problems (some of which may disappear shortly after birth) Intellectual disability Small head size (microcephaly) Eye defects Low birth weight Thrombocytopenic purpura Extramedullary hematopoiesis (presents as a characteristic blueberry muffin rash) Hepatomegaly Micrognathia
Children who have been exposed to rubella in the womb should also be monitored for: Developmental delay Autism Schizophrenia Growth retardation Learning disabilities Diabetes mellitus Glaucoma
Name 3 treatments for Nocturnal Enuresis?
Explanation to child and parents
Star chart – rewards each morning if the bed is dry
Enuresis alarm – sensor which sounds if it gets wet
Desmopressin – short term
Self-help groups
Name 5 causes of stridor?
Croup (laryngotracheobronchitis)
Epiglottitis
Laryingomalacia
Bacterial tracheitis (pseudomembranous croup)
foreign body
Allergic laryngeal angioedema (anaphylaxis)
Retropharyngeal abscess
Infectious mononucleosis with lymph node swelling
Hypocalcaemia due to poor vitamin D intake
Inhalation of smoke / hot air in fires
Trauma to the throat
What is the triad of Henoch-Schonlein Purpura (HSP)?
Purpura – buttocks / extensor surface of legs and arms / ankles
Arthritis
Abdominal pain
Haematuria and proteinuria Periarticular oedema Haematemesis Malaena Intussusception
Preceded by viral upper respiratory tract infection
HSP is a vasculitis, often preceded by a throat infection / URTI. HSP affects boys, aged 3-10yrs
What is the triad of symptoms in Haemolytic Uraemic Syndrome (HUS)?
Microangiopathic haemolytic anaemia
Acute renal failure
Thrombocytopenia
Prodromal infectious bloody diarrhoea
Usually follows verocytotoxin-producing Escherichia Coli strain O157:H7 (E.coli O157:H7)
Contact with farm animals
What is Bartter’s Syndrome?
autosomal recessive - affects the thick ascending loop of Henle - NKCC2 channel
like loop diuretics (furosemide) - Less reabsorption of Na+, K+, Cl- back into the renal tubule.
Hypokalaemic metabolic alkalosis
Hypercalciuria
Normal / low blood pressure - ↑renin
Polydipsia / polyuria
Growth failure
What is Liddle’s syndrome?
Autosomal dominant
affects the ENaC channels in the collecting ducts
Like ↑aldosterone – excess sodium reabsorption (hypertension), and excess potassium excretion (hypokalaemia)
Rx – potassium-sparing diuretics
What is Gitelman’s Syndrome?
Autosomal recessive
Affects the NCC (sodium chloride cotransporter) in the distal convoluted tubule
Like thiazide diuretics, less sodium and chloride reabsorption - hypotension
Hypochloremic metabolic alkalosis, hypokalemia, hypomagnesemia, hypocalcuria
polyuria, polydipsia, dehydration
What is the first sign of Puberty in Females and Males?
Females – breast development
Thelarche → adrenarche → menarche
Males – testicular enlargement
Name 3 signs of atrial septal defect on auscultation?
Ejection systolic murmur at the left upper sternal edge – due to increased blood flow through the pulmonary valve
Splitting of the second heart sounds – due to right ventricular stroke volume being equal in both inspiration and expiration
In partial AVSD, abnormal atrioventricular valves – pansystolic murmur (regurgitation)
What murmur is heard in Ventricular septal defect?
Pansystolic murmur, heard best at lower left sternal edge
Small VSDs (smaller than aortic valve) = loud pansystolic murmur Larges VSDs (larger than the aortic valve) = soft pansystolic murmur
Define Patent Ductus arteriosus (PDA)? Give 2 signs of PDA?
Ductus arteriosus (connecting the pulmonary artery to the descending aorta remains open for 1 month after the expected date of delivery. More common in pre-term infants
Continuous machinery murmur, head best under the left clavicle
Increased pulse pressure – collapsing, bounding pulse
Define Diabetic Ketoacidosis?
Hyperglycaemia (>11.1mmol/L)
pH < 7.3 (metabolic acidosis)
Urinary Ketones / ketonaemia
Bicarbonate (<15mmol/L)
Name 5 symptoms of Diabetic Ketoacidosis?
Excessive thirst. Frequent urination. Nausea and vomiting. Abdominal pain. Weakness or fatigue. Shortness of breath. Confusion
Name 5 signs of Diabetic Ketoacidosis?
signs of dehydration - e.g. reduced skin turgor tachycardia tachyopnoea - kussmaul breathing hypotension ketotic breath confusion
Define precocious puberty?
The development of secondary sexual characteristics:
in girls <8 years old
In boys <9 years old
Name 5 causes of precocious puberty?
Girls causes – most likely idiopathic
Boy causes – most likely organic – intracranial tumours
Gonadotrophin dependent (↑↑LH > ↑FSH):
Idiopathic / familial
CNS abnormalities:
- congenital - hydrocephalus
- acquired – irradiation, infection, surgery
Intracranial tumours
Hypothyroidism
Gonadotrophin independent (↓LH, ↓FSH) :
Adrenal disorders:
- congenital adrenal hyperplasia
Ovarian tumour – granulosa cell
Testicular tumour – leydig cell
Exogenous sex steroids
What is the first-line Treatment for Menorrhagia?
First Line:
Levonorgestrel-releasing Intrauterine System (Mirena coil)
Second Line:
Tranexamic acid (anti-fibrinolytic)
Mefanamic acid (NSAIDs)
Combined Oral Contraceptive pill (COCP)
Third Line:
Oral progestogens
Gonadotrophin-releasing hormone agonist (GnRH analogues)
What is Endometriosis? Name 5 signs and Symptoms?
Endometrium outside the uterus
Pelvic Pain Dysmenorrhea Dyschezia Dysuria Dysparunia
Subfertility
Name 5 Risk Factors for Endometrial Cancer?
Nulliparity
Obesity – peripheral conversion of androgens to oestrogen
Polycystic Ovarian Syndrome (PCOS) – prolonged amenorrhea / infertility
Early menarche / Late menopause
Oestrogen-secreting tumours (Ovarian granulosa cell tumours)
Excess Exogenous Oestrogen:
Tamoxifen (SERM) – oestrogen agonist in endometrium
Other:
Diabetes
Hypertension
Lynch II syndrome (↑ risk of colon, ovarian, endometrial cancer)
Cowden Syndrome (↑ risk of breast, thyroid, endometrial, kidney cancer)
Lynch II syndrome (hereditary non-polyposis colorectal cancer HNPCC – type 1) – autosomal dominant - a mutation in a mismatch repair gene – cell cannot correct mistakes in the DNA.
Cowden syndrome – autosomal dominant – causes cancerous growths called harmatomas – mutation in a tumour suppressor protein
Name 3 Protective Factors for Endometrial Cancer?
Combined Oral Contraceptive Pill (COCP) – progestogen and oestrogen
Smoking
Grand-parity (>5 children)
Breast feeding
What causes Kallmann’s Syndrome? Name 2 main features?
A form of hypogonadotropic hypogonadism – caused by a failure of GnRH releasing hormones to migrate to the hypothalamus. No GnRH is released → no FSH or LH is released from the Anterior pituitary → hypogonadism
Hypogonadism → failure to start puberty
Infertility
Anosomnia (failure to smell)
Describe 5 effects of Oestrogen?
Stimulates endometrial growth (proliferation of glandular and stromal parts of the endometrium)
Increases the progesterone receptors in the endometrium
Stimulates production of thin cervical mucus - easily penetrated by sperm
bone resorption
Increases fat deposition
Describe 5 effects of Progesterone?
Creates secretory changes of the endometrium
Decreases the contractility of the uterus
Inhibits lactation
Suppresses maternal immune response – prevents rejection of fetus
↑ increases respiratory rate
↑ increases sodium excretion
↓ bowel motility
↑ increase in body temperature
Describe how the Combined Oral Contraceptive Pill works?
Causes a negative feedback of GnRH release - ↓FSH /↓LH – inhibits ovulation
Thins the endometrium
Thickens the cervical mucus
Name 3 Risk Factors for Fibroids?
Fibroids are oestrogen-dependent (regress after menopause)
Nulliparity
Older Women – more common near menopause
Afro-Caribbean
Fibroids – leiomyomata – benign smooth muscle tumours of the myometrium
Combined Oral Contraceptive Pills are protective
Name 3 Complications of Fibroids?
Torsion of pedunculated fibroids
Red degeneration – (fibroid outgrows its blood supply) – common in pregnancy
Hyaline / cystic degeneration (fibroid is soft, liquidified)
Calcification
Leiomyosarcoma (malignancy)
Pressure effects
Name 3 Causes of Secondary Amenorrhoea / Oligomenorrhoea?
Premature Menopause
Polycystic Ovarian Syndrome (PCOS)
Hyperprolactinaemia
Name 3 methods for Termination of Pregnancy (ToP)?
Surgical Termination:
- (7-13 weeks) – Suction Curettage
- (>13 weeks) – Dilatation and Evacuation
Medical Termination (usually <7weeks, 7-9 weeks):
- Mifepristone (antiprogesterone)
- Misoprostol (prostaglandin E1 analogue)
(>22 weeks) – inject KCl into umbilical vein or fetal heart
- usually due to fetal abnormality
Name 3 Complications of Termination of Pregnancy (ToP)?
Infection Bleeding Uterine perforation Cervical trauma Failure of abortions Psychological sequelae Unsafe abortions – maternal deaths Multiple abortions → increased risk of subsequent pre-term
Name 3 Statutory Grounds for Termination of Pregnancy (ToP)?
Abortion Act 1967 states 2 doctors must agree that a women fits the criteria:
- Continuing the pregnancy would involve more risk to the life of the pregnant women more than if the pregnancy was terminated.
- Termination is necessary to prevent grave permanent injury to the physical / mental health of the pregnant woman
- Pregnancy <24 weeks, and continuing pregnancy would have increased risk to the physical / mental health of the pregnant woman.
- Pregnancy <24 weeks, and continuing pregnancy would have increased risk to the physical / mental health of any existing children of the family of the pregnant women
- There is substantial risk that if the child were born it would suffer from such physical or mental abnormalities as to be serious handicapped.
Every abortion must be notified to department of health
Name 3 risk factors for Cervical Cancer?
Increased number of sexual partners
Having Sexual contact at an earlier age
Oral contraceptive Pill use
Smoking
Immunocompromised - HIV, long-term steroid usage, transplant patients
Not vaccinated
Not attending regular cervical cancer screening (Pap smear tests)
Name type of carcinoma is Cervical Cancer? Which part of the cervix does it occur?
Squamous cell carcinomas (90%)
Occurs in the transformation zone – where the endocervix (columnar epithelium and the ectocervix meet (squamous epithelium) – squamocolumnar junction.
other adenocarcinoma (from the columnar epithelium) – worse prognosis
What is the treatment of Cervical intraepithelial neoplasia CIN II/III)?
Large loop excision of the transformation zone (LLETZ), also called diathermy loop excision.
Complications: (same as Cone biopsy)
Post-operative haemorrhage
Subsequent pre-term birth
Name 3 Symptoms of Cervical cancer?
Postcoital bleeding (PCB) Offensive vaginal discharge Intermentstrual bleeding (IMB) Post-menopausal bleeding (PMB) Incidental finding from biopsy screening – occult carcinoma
Signs:
Ulcer
Visible mass on cervix
Involvement of: Ureters – uraemia Bladder – haematuria Rectum – rectal bleeding Nerves – pain
What system is used to stage Cervical cancer?
International federation of Gynaecology and Obstetrics (FIGO) classification
Stage 1 – lesions confined to the cervix
1a – diagnosed with microscope - (1ai - Rx with cone biopsy)
1b – clinically visible lesions
Stage 2 – Invasion in to the vagina, but not the pelvic side
2a – involvement of upper 2/3 of vagina
2b – involvement of the parametrium
Stage 3 – Invasion into the lower vagina or pelvic wall, or causing ureteric ……………..obstruction
Stage 4 – invasion of the bladder or rectal mucosa, or beyond the true pelvis
What does Wertheim’s hysterectomy involve?
Pelvic node clearance
Hysterectomy
Removal of the parametrium
Upper third of the vagina
Complications: Haemorrhage Ureteric / bladder damage Fistulae Voiding problems Accumulation of lymph
Used for treatment of cervical cancer
What is the parametrium? Name 3 structures found in the parametrium?
Parametrium – fibrous tissue which separates the supravaginal part of the cervix from the bladder.
The parametrium contains the: Ovarian ligament Uterine artery Ureters Connective tissue
Involvement of the parametrium in cervical cancer, upgrades the stage – 2b
What is a Radical Trachelectomy?
Removal of the cervix and upper vagina
Used in women who wish to conserve fertility
Used in stage Iaii and Ibi (tumour is <20 mm)
Name 5 complications of In Vitro Fertilisation?
Maternal: Ectopic pregnancy Pre-eclampsia Pregnancy-induced hypertension Complications whilst collecting the eggs – intraperitoneal haemorrhage, pelvic infections
Fetal: Twins or multiple Low birth weight (LBW) Small for gestational age (SGA) Congenital abnormalities Perinatal morbidity / mortality
Give 2 indications for medical management of Ectopic Pregnancy?
No audible / visible fetal heart beat (no cardiac activity)
β-hCG level < 3000 IU/ml
<35mm mass
unruptured ectopic – no acute signs / symptoms
What is the diagnostic criteria for Polycystic Ovarian Syndrome (PCOS)?
Two or more of the following:
ovarian cysts on ultrasound
- > 12 small follicles (2-8mm)
- enlarge ovary volume (>10ml)
Irregular periods (>35 days or 5 weeks apart)
Evidence of raised androgens:
- clinical – acne, hirsutism
- biochemical – raised serum testosterone
Name 3 Risk Factors for Ovarian Cancer?
Due to continuous ovulation:
Nulliparity Early menarche / late menopause Family History BRCA 1/2 genes Lynch II syndrome (↑ risk of colon, ovarian, endometrial cancer)
Name 3 Protective Factors for Ovarian Cancer?
Factors which interrupt ovulation:
Pregnancy
Breast feeding / lactation
Combined Oral Contraceptive Pill (COCP)
Name 3 features of an ovarian mass, which are suggestive of Malignancy?
Rapid growth, >5cm Ascites Advanced age (>55 years) Bilateral masses Solid / septate nature on ultrasound Increased vascularity
What Virus and strains cause genital warts?
Human Papilloma virus (HPV) strains 6 and 11
Strains 16, 18, 31, 33 cause Cervical intraepithelial neoplasia (CIN) and cervical cancer
Name 3 types of Gestational Trophoblastic disease? Name 2 risk factors?
Hydatidiform mole:
- Complete mole – paternal origin, sperm fertilise empty oocyte + …mitosis (46 XX, 46 XY)
- Partial mole – 2 sperm fertilise one oocyte (69 XXY)
Invasive mole – locally invades uterus
Choriocarcinoma – metastatic
Gestational trophoblastic neoplasia (GTN) – persistent elevated hCG
Risk Factors:
Extremes of maternal age
Asian
Previous Gestational trophoblastic disease
Name 3 complications of Ovarian Torsion?
Infection Peritonitis Chronic pain adhesions Sepsis Infertility
Name 3 causes of raised Alpha-fetoprotein (AFP) in the maternal serum?
Fetal causes: (any break in fetal skin)
Open neural tube defect – spina bifida, anencephaly
Abdominal wall defects
Multiple gestation
Maternal causes:
Placental abruption
Tumour markers – hepatocellular carcinoma, endodermal sinus tumour (yolk sac carcinoma), germ cell tumour, neuroblastoma
What does Cytomegalovirus Infection during Pregnancy Cause?
Infection in neonate leads to: Hearing and vision problems Mental retardation and learning disabilities Fetal hydrops Intra-uterine growth restriction Microcephaly Thrombocytopenia pneumonia
What does Rubella Infection during Pregnancy Cause?
For Pregnant Woman:
Non-specific flu
Macular rash (face → body)
For Fetus (effects are worse if infection is in earlier gestation) Sensineural deafness Cataracts Congenital heart disease Learning difficulties Hepatosplenomegaly Microencephaly
Spread via droplet route
MMR vaccine is live – therefore contraindicated during pregnancy
What are the Fetal effects of Toxoplasmosis Infection?
What is the Treatment?
For Fetus (effects are worse if infection is in earlier gestation) Miscarriage / Still-birth Mental impairment convulsions Deafness Blindness Hydrocephalus
Treatment - Spiramycin
Name 3 features of Fetal Varicella Syndrome?
Dermatomal skin scarring
Limb hypoplasia
Neurological defects
Eye defects
Exposed mothers are treated with varicella zoster immune globulin (VZIG) and aciclovir
