1-On physical examination, the right testis of an 18 month old boy is not in the scrotum: True / False There is likely to be a direct inguinal hernia on the same side Incorrect answer selected Orchidopexy should be left until he is 10 years old Correct He is likely to suffer a late onset of puberty Correct A normally situated left testis rules out the possibility of testicular feminization syndrome Correct A 3 month course of intra-muscular testosterone should be given to encourage descent Correct In the above scenario, there is likely to be an indirect inguinal hernia if the cryptorchidism is due to a true undescended testicle. Orchidopexy needs to ideally be carried out in his second year of life to minimize the risks of malignancy and infertility. In testicular feminisation syndrome, genetic males are born with female genitalia.Testes are usually intraabdominal but may descend into the inguinal canal. In incomplete testicular feminisation testes may be present in the labioscrotal folds.as males may exhibit a small amount of masculinisation. 2-Escherichia coli 0157 / H7: True / False is a bowel commensal Correct causes haemorrhagic colitis Correct is an important cause of cholera-like illness Correct is a recognised cause of the haemolytic uraemic syndrome Correct can be prevented from causing clinical illness by vaccination Correct Escherichia coli 0157 / H7 characteristically causes a haemorrhagic colitis with abdominal pain but little or no fever. An outbreak of 500 cases in the USA was described in 1993. This outbreak was associated with the consumption of hamburgers. There were over 50 cases of haemolytic uraemic syndrome and 4 fatalities. The source of an outbreak in Wishaw, Scotland in 1996 was a butcher's. There were over 500 cases and 18 fatalities. 3-Penicillins:
Transcript
1-On physical examination, the right testis of an 18 month old boy is not in the scrotum:
True / False
There is likely to be a direct inguinal hernia on the same side Incorrect answer selected
Orchidopexy should be left until he is 10 years old Correct
He is likely to suffer a late onset of puberty Correct
A normally situated left testis rules out the possibility of testicular feminization syndrome Correct
A 3 month course of intra-muscular testosterone should be given to encourage descent Correct
In the above scenario, there is likely to be an indirect inguinal hernia if the cryptorchidism is due to a true undescended testicle. Orchidopexy needs to ideally be carried out in his second year of life to minimize the risks of malignancy and infertility. In testicular feminisation syndrome, genetic males are born with female genitalia.Testes are usually intraabdominal but may descend into the inguinal canal. In incomplete testicular feminisation testes may be present in the labioscrotal folds.as males may exhibit a small amount of masculinisation.
2-Escherichia coli 0157 / H7:
True / False
is a bowel commensal Correct
causes haemorrhagic colitis Correct
is an important cause of cholera-like illness Correct
is a recognised cause of the haemolytic uraemic syndrome Correct
can be prevented from causing clinical illness by vaccination Correct Escherichia coli 0157 / H7 characteristically causes a haemorrhagic colitis with abdominal pain but little or no fever. An outbreak of 500 cases in the USA was described in 1993. This outbreak was associated with the consumption of hamburgers. There were over 50 cases of haemolytic uraemic syndrome and 4 fatalities. The source of an outbreak in Wishaw, Scotland in 1996 was a butcher's. There were over 500 cases and 18 fatalities.
3-Penicillins:
True / False
Are bactericidal Correct
Exert their actions by combining with a transpeptidase Incorrect answer selected
May be inactivated by enzymes which are plasmid coded Correct
Have significant toxic effects on humans Correct
Have a spectrum of action which is independent of the beta lactam side chain Correct
Penicillins are generally bactericidal and exert their effect by combining with and inhibiting the transpeptidase enzyme which cross-links the peptidoglycans in the cell wall. This weakens the cell wall and allows the cell to lyse under the influence of an osmotic gradient.
The widespread resistance to penicillins is due to beta lactamase enzymes which break the beta lactam ring and inactivate the drug. The beta lactamase enzyme is often encoded in the bacterial plasmid. The plasmid is bacterial DNA (separate from the main chromosome) that can be translocated from bacterium to bacterium and it is for this reason that resistance may be also transferred. Although the penicillins have similar spectra of action, their specific spectra may be changed by altering the beta lactam side chain. They do not have significant toxic effects on humans, but allergy is common.
4-Progressive spinal muscular atrophy of infancy presents with
True / False
severe generalised weakness Incorrect answer selected
fasiculations seen in the tongue Correct
loss of spinothalamic tract function Correct
spontaneous fibrillation on electromyography Correct
normal tendon reflexes Correct Spinal muscular atrophy , classified into three forms : Infantile, late infantile and juvenile. The specific gene defect (AR inheritance) is localised to the Chr 5, which when defective fails to suppress the normal preprogrammed neuronal cell death at birth. The characteristic features are fasciculations seen best in the resting tongue, fibrillation potentials in EMG, denervation pattern on a muscle biopsy.
5-Regarding standard error of the mean (SEM) and standard deviation (SD) the following are true
True / False
SEM is calculate by taking the square root of the SD of the sample means Correct
SD invariably falls with increasing sample size Correct
SEM increases with sample size Correct
if SD is greater than the mean the distribution is positively skewed Correct
Student's t test is a non-parametric test Correct The Standard error of the Mean = SD/sq root n. SD does not necessarily fall with sample size as the distribution of values may increase and hence SD increase. SEM would decrease with sample size as can be seen in the above calculation. d - negatively distributed. Student's T test is a parametric test comparing normally distributed data.
6-In Hodgkin's disease, an unfavourable prognosis is indicated by
True / False
A. Mixed cellularity pathology on lymph node biopsy Correct
B. Clinical presentation with pyrexia of unknown origin Correct
C. Presentation over the age of 60 years Incorrect answer selected
D. Pruritis Incorrect answer selected
E. Presence of Reed-Sternberg cells on bone-marrow trephine Incorrect answer selected
A. And lymphocyte depleted.
D. Nor is alcohol-induced chest pain.
E Implies spread to bone marrow!
7-Regarding the child with near drowning
True / False
On initial immersion, apnoea and tachycardia occur Correct
If the rectal temperature on arrival is below 33°C, the chances of survival are increased Correct
Immersion in salt water carries a worse prognosis Correct
Associated cervical spine injury is unusual Correct
External rewarming is usually sufficient if the core temperature is above 32°C. Incorrect answer selected
On initial immersion the diving reflex occurs, which results in apnoea and bradycardia. Later, as apnoea continues, hypoxia results, causing tachycardia, increase in blood pressure and acidosis. Rapid cooling of the organs to below 33°C is protective and associated with a better prognosis. Immersion in salt or fresh water carries the same prognosis. Cervical spine injury should be suspected in all cases of near drowning as the incidence of this associated injury is high, especially in diving accidents. External rewarming (removal of wet clothing, warm or heating blankets, infrared lamp) is sufficient for core temperatures of 32°C or above but for lower core temperature, core rewarming becomes necessary (warm intravenous fluids and ventilator gases, gastric/bladder/peritoneal/pleural/pericardial lavage).
Efforts to resuscitate should be continued until the core temperature is at least 32-34°C.
8-In a 6 month old child with meningitis, the following organisms should be covered by first line antibiotic therapy:
True / False
Group B Streptococcus Correct
Listeria monocytogenes Incorrect answer selected
E. Coli Incorrect answer selected
Haemophilus Influenzae Type B Correct
Pseudomonas. Correct Antibiotics should be selected according to the common organisms prevalent at various ages. Currently, in the UK these are:
<3 months of age: Group B Streptococcus, Escherichia
coli or other gram negatives, Listeria. 1 month - 6 years of age: Meningococcus,
Pneumococcus, Haemophilus influenzae. The incidence of the latter has declined since the introduction of Hib vaccine, but it should still be covered.
9-The following are examples of multifactorial inheritance manifest in the neonatal period:
True / False
Anencephaly Incorrect answer selected
Pyloric stenosis Correct
Myotonic dystrophy Incorrect answer selected
Ankylosing spondylitis Incorrect answer selected
Leber's optic neuropathy Correct Polygenical multifactorial inheritance refers to a spectrum of disorders which are neither purely environmental in origin nor purely hereditary. They are thought to result from the additive effect of several genes with or without the influence of environmental or other unknown factors. Height and IQ are inherited in this way, and these parameters show a normal distribution in the population. Relatives of an affected person show an increased liability to the disorder so that a greater proportion of them than in the general population will fall beyond the threshold and will manifest the disorder. The disease may also be more severe in relatives, particularly where there is a close relationship to the affected person and there are multiple affected family members. In addition, a sex difference in prevalence results in an increased risk to relatives. The phenotype may be manifest as a congenital malformation or in adult life.
10-Which of the following statements concerning the reporting of adverse drug reactions (ADR) in the UK is/are correct?
True / False
ADR reporting is compulsory Incorrect answer selected
A black triangle sign alongside a drug within the British National Formulary (BNF) requires that all ADRs should be reported with this drug
Correct
Reporting is not required for ADRs associated with vaccinations Correct
There is no requirement to report ADRs with Over The Counter (OTC) drugs Correct
When submitting a yellow card concerning an ADR, all other drugs taken within the last 3 months should also be reported Correct
Reporting ADRs to the Medicines Control Agency is a voluntary process but all side effects noted with newer drugs denoted with a black triangle in the BNF should be reported.
Even ADRs with OTC therapies should be reported to ensure adequate monitoring and potentially ascertain whether the manufacturing of certain brands is appropriate.
The report should also contain drugs that the patient has taken (including OTCs) within the last three months to establish potential interactions.
11-Henoch-Schönlein syndrome is associated with:
True / False
A highest incidence in children under the age of 3 Correct
Hepatosplenomegaly Incorrect answer selected
Haemolytic anaemia Correct
Sudden onset of oedema in unusual places Incorrect answer selected
Elbow purpura and papules Correct 75 % of the children are above two years but below 11 years. Hepatosplenomegaly is a rare feature of active disease.
Haemolysis is not present, full blood count and clotting are normal.
Subcutaneous oedema of the feet, hands, scalp and ears are seen. Scrotal oedema also may occur. Gastrointestinal bleeding may occur and haematuria and proteinuria also may occur. Abdominal pain, intussusception and arthritis are features.
Purpura and papules occur in the elbows but the characteristic sites are thighs and buttocks.
Further reading:Henoch-Schönlein syndrome eMedicine
12-Regarding sickle cell disease
True / False
The Sickledex test involves adding a reagent to blood, which identifies
the type of haemoglobinopathy Correct
It is caused by the substitution of glutamic acid by valine at position 6 on the beta chain of haemoglobin Incorrect answer selected
The erythrocytes of Haemoglobin AS patients can sickle at a PO2 of 5 - 6 kPa (40 - 50 mmHg) Correct
The erythrocytes of Haemoglobin SC patients may sickle at a PO2 of 4 kPa (30 mmHg) Correct
Osteomyelitis is typically caused by E. coli bacteria Correct Sickle cell disease in a haemoglobinopathy caused by the substitution of glutamic acid by valine at position 6 (from the N-terminal) of the beta chain. Inherited as an autosomal gene, heterozygous (HbAS) and homozygous (HbSS) forms exist. A low partial pressure of oxygen (PO2) causes HbS to polymerise and precipitate, resulting in sickling of the erythrocyte. HbSS patients sickle at PO2 of 5 - 6 kPa and HbAS patients sickle at PO2 of 2.5 - 4 kPa (not 5 - 6 kPa).
A mild disease is produced when heterozygotes for HbS combine with other haemoglobins e.g. Haemoglobin C, creating HbSC, with sickling occurring at around 4 kPa. Osteomyelitis is typically caused by unusual organisms, e.g. Salmonella.
Diagnosis of sickle cell disease requires the detection of HbS. The Sickledex test involves the addition of reagent to blood; turbidity only confirming the presence of HbS, but it gives no information on other haemoglobins. Haemoglobin electrophoresis is the only investigation that can determine the nature of the haemoglobinopathy.
13-The following are recognised features of Down's syndrome:
True / False
Coarctation of the aorta Correct
Overlapping of the 3rd and 4th fingers Correct
Hoarse cry Correct
Hypotonia Correct
Corneal opacities Correct The following are clinical features: third fontanelle, brachycephaly, sparse hair, upslanted palpebral fissures, epicanthal folds, brushfield spots, large tongue in a small mouth, transverse palmar creases, brachydactyly, fifth-finger clinodactyly, hypotonia and cataracts. The cardiac defects that can occur are: endocardial cushion defects, ventricular septal defect, patent ductus arteriosus, atrial septal defect and Tetralogy of Fallot. Coarctation is associated with Turner's syndrome and not Down's Syndrome. Corneal opacity can occur secondary to glaucoma.
14-Characteristic features of Turner's syndrome include:
True / False
Short stature Correct
Mental retardation Correct
Karyotype XXY Correct
Webbing of the neck Correct
Increased incidence of coarctation of the aorta Correct Short stature (with height of >2.5 standard deviations below the mean height value for age) is an important phenotypic feature of the condition and it is not due to deficiency of growth hormone, thyroid hormone, adrenal or gonadal steroids but may improve following the administration of growth hormone. In general patients with gonadal dysgenesis do not differ from siblings in overall intelligence. The karyotype is XO or XO/XX in mosaics. Webbing of the neck, lymphoedema of the distal extremities, ascites and pleural effusions are features. Cardiovascular abnormalities other than coarctation include bicuspid aortic valve, mitral valve prolapse and aortic root dilatation.
15-The following applies to rotavirus gastroenteritis:
True / False
It typically affects infants older than 18 months Correct
The Rotazyme test to detect virus particles is a direct enzyme-linked immunosorbent assay Correct
Blood and mucus is found in the stools of about 50% of affected babies Correct
It occurs most often in the summer months Correct
Protection is not conferred by breast feeding Correct The peak incidence of rotavirus infection is 3-15 months.
ELISA is performed on the stool samples to detect virus particles.
Watery diarrhoea is common and blood and mucus is rare.
Epidemics occur in the cooler months.
Breast feeding protects against rotavirus diarrhoea and other infections e.g. pneumonia.
16-Bone age:
True / False
Is more advanced in girls than in boys of the same age Correct
Is characteristically retarded in girls with untreated congenital adrenal hyperplasia Correct
Is a better predictor of final adult height than height for age Correct
May be retarded by emotional deprivation Correct
May be retarded in chronic renal failure Correct Bone age and skeletal maturity are more advanced in females compared to males of the same age, and they reach peak height velocity earlier. Bone age is advanced in girls with untreated congenital adrenal hyperplasia due to the effects of the excessive androgens. Bone age (which can be measured with an x-ray of the left wrist) determines the timing of puberty and can be used to predict how much additional growth is possible, therefore it is an excellent predictor of final adult height. Extreme emotional deprivation may retard growth by causing reversible hypothalamic-pituitary depression. Normal skeletal growth resumes rapidly after removal from the oppressive environment. Chronic renal failure is also a well known cause of growth failure and delayed skeletal maturation. Improved metabolic control, nutrition and growth hormone therapy improves growth in such patients.
17-The following definitions are true:
True / False
Still birth rate is the rate of fetal deaths after 28 completed weeks of pregnancy per 1000 total pregnancies. Correct
The perinatal mortality rate is the total of still births plus deaths within the first month per 1000 live and still births. Correct
The neonatal mortality rate is the deaths of live born infants less than 28 days of age per 1000 live births. Correct
An abortion is a premature expulsion from the uterus of the products of conception before 26 completed weeks gestation. Correct
A miscarriage is the loss of the products of conception from the uterus before 16 completed weeks. Incorrect answer selected
A still birth is defined as a fetal death after 24 completed weeks of pregnancy. A miscarriage is fetal loss before 24 completed weeks. Perinatal mortality rate is the still births plus deaths within the first 6 days per 1000 live and still births. Neonatal mortality rate is the deaths of live born infants.
18-Regarding the Central Limit Theorem:
True / False
It provides information on the sampling distribution of x. Incorrect answer selected
It states that the sampling distribution of the mean is based on repeated random samples from a population will be approximately bell shaped. Incorrect answer selected
Is a way of defining the mode. Incorrect answer selected
It states that the median is usually larger than the mode. Correct
It implies that, for a large number of measurements, the mean will tend to the population mean. Correct
The Central Limit Theorem states that the distribution of the mean of N random variables tends to a normal distribution as N tends to infinity. The main condition is that the variance of any one variable should not dominate. An important application is to the mean of a random sample of N independently identically distributed random variables, each with a mean u and a standard deviation o. For a large N, the theorem implies that this mean will be N (µ, o2/N). In practice, convergence is usually very rapid. The standard error of the mean equals u/pN. The significance of the Central Limit Theorem is two-fold: 1. It explains why many measurements have bell-shaped frequency distributions. 2. It is useful in statistical inference.
19-The following suggest a diagnosis of Friedreich ataxia rather than ataxia telangiectasia:
True / False
Increased chromosomal fragility Correct
Increased susceptibility to infection Correct
Raised serum alphafeta protein Correct
Pes cavus Correct
Optic atrophy Correct Ataxia telangiectasia is a DNA repair defect inherited as an autosomal recessive. It presents with difficulty with balance and co-ordination and occular motor dyspraxia is evident by school age. Telangiectasia develops from about 4 years of age, particularly on the conjunctivae, shoulders and neck. There is increased
susceptibility to infection from a variable immune defect, and increased incidence of malignant disorders, a raised alphafeta protein, and increased DNA fragility to irradiation which is useful diagnostically. Friedreich's ataxia is the most common form or spinal cerebellar degeneration. It is inherited as an autosomal recessive and presents with progressive clumsiness. There is ataxia of the limbs and trunk with distal wasting in the legs, diminished reflexes, and pes cavus. The above are similar to other hereditary motor sensory neuropathies, but in Friedreich ataxia there is impairment of propreception and often optic atrophy. There is progressive cerebellar degeneration with scoliosis and cardiomyopathy, the latter causing death at 40-50 years of age.
Accompanying skull fracture Correct An extradural haemorrhage results from arterial or venous bleeding into the extradural space following direct head trauma, and is often accompanied by a skull fracture. There may be a lucid interval until the conscious level deteriorates and seizures occur secondary to the space-occupying lesion formed by the enlarging haematoma. Focal neurological signs, anaemia, and shock may occur. Subdural haematomata seen almost exclusively in infants and toddlers due to non-accidental injury caused by shaking, and they are accompanied by retinal haemorrhages. Subarachnoid haemorrhage is usually caused by an aneurysm or arteriovenous malformation, and presents acutely with head pain, neck stiffness and occasional fever. Retinal haemorrhage is usually present and seizures and coma may develop.
3 cycle per second spike and wave discharge - petit mal seizures. Correct
Centro-temporal spikes - benign rolandic epilepsy. Correct An EEG is indicated whenever epilepsy is suspected. If the standard EEG is normal, an abnormality may be revealed from a sleep deprived recording or an EEG within an hour of a clinical seizure, or a 24 hour ambulatory recording. Typical EEG patterns in epilepsy are hypsarrhythmia, 3 cycle per second spike and wave discharge, centro-temporal spikes. In addition, EEG recording during piridoxine administration may be diagnostic. Burst-suppression pattern may be seen in hypoxic ischaemic encephalopathy and in the myoclonic stage of SSPE, and is the pattern desired when inducing a pentothyone coma for status epilepticus.
Abnormalities of micturition Correct Lesions of the cerebral cortex result in dementia, dysphagia, apraxia, astereognosis and other forms of agnosia. If Broca's area is involved (inferior frontal gyrus) then speech can be affected. Because of the diffuse radiation of nerves beyond the internal capsule, upper motor neurone signs tend to be more localised. A paresis confined to one limb or to one side of the face is likely than a hemiplegia. Specific visual field defects may assist in localising the lesion within the cerebral hemisphere.
23-Compared with truants- school refusers are more likely to:
True / False
Come from large families. Correct
Have a specific reading disability. Correct
Have over anxious parents. Incorrect answer selected
Have behavioural problems at school. Correct
Have a low IQ. Correct School phobia is when a child will not attend school, and occurs in 1-2% of children. The mother/child relationship is one of hostile dependency, and a large proportion of such children suffer from depression or anxiety, and in particular separation anxiety disorder (SAD). There are unrealistic or persistent worries about harm befalling primary care givers, reluctance to go to school or to sleep without being near their parents, persistent avoidance of being alone, nightmares involving themes of separation, and numerous somatic symptoms and complaints subjective to stress. Children tend to come from middle to lower social classes. Management involves treating underlying psychiatric problems, family therapy, parent management training, and liaison with the school. Truancy is never developmentally appropriate. They may skip school because they are afraid of peers or teachers, or because of humiliation secondary to learning difficulties. Occasionally, there is separation anxiety. There is often disorganisation within the home or developing personality problems. Younger children may run away to get back at their parents, whereas older children with nowhere to go are almost always expressing serious underlying problems. This may be related to abuse or neglect. Disagreements with parents, developing personality problems, may also be implicated.
Sinus tachycardia is a recognised feature. Incorrect answer selected
Pin-point pupils are usual. Correct
Hypertension is possible due to adrenergic stimulation. Correct
Emesis may be useful even in presentation is delayed. Correct
Arrhythmias should be aggressively treated with drugs. Correct Tricyclics give rise to sinus tachycardia and conduction disorders. Their anticholinergic effects also produce a dry mouth and blurred vision from pupillary dilatation. Agitation, confusion, convulsions, drowsiness, coma, respiratory depression and hypotension are also features. Emesis is no better than activated charcoal. The latter should be given as early as possible after ingestion. Cardiac monitoring is mandatory though arrhythmias should be treated conservatively with sodium bicarbonate to correct metabolic acidosis. Convulsions may require Diazepam or lorazepam.
25-The following are recognised causes of anterior uveitis:
True / False
Kawasaki Disease Incorrect answer selected
Pauciarticular rheumatoid arthritis Correct
Sarcoidosis Correct
Herpetic keratitis Correct
Trauma Correct The uveal tract consists of the inner vascular coat of the eye (iris, ciliary body, choroid). Inflammation results from both infectious and non-infectious causes, including a number of systemic diseases and trauma. Either part or the whole of the uveal tract may be preferentially involved. Iritis may be caused by: pauciarticular rheumatoid arthritis, Kawasaki Disease, sarcoidosis, secondary to corneal disease (herpetic keratitis, bacterial or fungal corneal ulcer, corneal abrasion, foreign body), traumatic iritis of iridocyclitis.
Choroiditis is inflammation of the posterior portion of the uveal tract, and invariably involves the retina (choreoretinitis). Causes include toxoplasmosis, histoplasmosis, CMV, sarcoid, syphilis, TB, toxocariasis. Secondary complications include retinal detachment, glaucoma, phthisis.
Premature thelarche Correct Hyperprolactinaemia may be manifest by a milk discharge from the breasts. Causes include, prolactinoma, hypothyroidism (far increased TRH), and occasionally craniopharyngioma. Treatment consists primarily of Dopamine agonists such as bromocriptine, with a rare requirement for transsphenoidal surgery. Prolactin levels will also be increased in normal puberty. In premature thelarche (isolated breast development) plasma levels of LH and oestrodial are below the limits of normal assays, but basal levels of FSH and their responses to gonadotrophin releasing hormone stimulation are greater than those seen in normal controls. In contrast, children with true precocious puberty secrete predominately LH. Ultrasound examination of the ovaries reveals a normal size, but a few small cysts are not uncommon.
27-The following are would confirm the diagnosis of insulin dependent diabetes mellitus in a symptomatic 6-year-old child on the 25th centile for weight and height:
True / False
A random plasma glucose of >6.5mmol/L Correct
Finding of 3+ ketonuria Incorrect answer selected
An HbA1c of 7.8% Correct
A fasting plasma glucose of 6.5mmol/L Incorrect answer selected
An abnormal glucose tolerance test Incorrect answer selected The diagnosis is usually relatively easy to confirm in a symptomatic child. A random glucose of >11.1mmol/L or a fasting glucose of >7.0mmol/L would be regarded as confirmatory. There is usually glycosuria in addition to ketonuria. Isolated ketonuria suggests fasting. A raised glycosolated haemoglobin (HbA1c) is also highly suggestive. A glucose tolerance test is rarely needed.
28-Regarding the development of the skull sutures:
True / False
Craniosynostosis is due to dysfunctioning osteoblasts Incorrect answer selected
The skull vault develops from mesenchyme Incorrect answer selected
Scaphocephaly develops from premature fusion of the coronal suture Correct
Occipital plagiocephaly is usually due to infant positioning Correct
Scaphocephaly develops from premature fusion of the lamdoid suture Correct
Craniosynostosis is defined as premature closure of the sutures, and may be primary or secondary to failure of brain growth. The majority are idiopathic, with genetic syndromes accounting for 10%. The skull bones develop from mesenchyme, and craniosynostosis may be due to abnormal skull base development disrupting suture development. Osteoblasts and osteoclasts are not thought to be abnormal. Most cases are evident from birth, and a prominent bony
ridge from the affected suture (S) may be found, confirmed by skull x rays. Specific forms include:
Single suture involvement is rarely associated with neurological problems. Surgery is only needed for cosmetic appearance. Genetic disorders involving multiple sutures include:
Usually resolves with 2 years of medical treatment. Incorrect answer selected
Radioiodine treatment should be avoided because of the risk of genetic damage and neoplasia. Correct
May present with heart failure. Correct
May be associated with increased stature and advanced bone age. Correct
May present with chronic diarrhoea. Correct Neonatal hyperthyroidism is transient and is due to transferred thyroid stimulating immunoglobulins from mother. Juvenile hyperthyroidism is from Grave's Disease and is commonest in teenage girls.
peripheries; goitre; rapid growth with advanced bone age; behavioural problems.
Eye signs (not in variable): exophthalmos, ophthalmoplegia, lid retraction, lid lag.
TREATMENT:
Medical: carbimazole, propylthiouracil. Betablockers can be used for symptomatic relief, but not on their own. 50% relapse after 2 years when treatment is stopped.
Surgical: sub-total thyroidectomy. Radioiodine: not considered to result in neoplasia or
genetic damage. Follow-up, and subsequent thyroxine therapy, is often needed.
All babies who have received oxygen should have their eyes examined until a corrected age of 44 weeks gestation. Correct
It occurs in 50% of very low birth weight infants. Incorrect answer selected
Cryosurgery or laser therapy may be indicated for grade 3 or 4 disease. Correct
It is first detected at the equivalent of 32-38 weeks gestational age. Incorrect answer selected
It may progress extremely rapidly. Correct Retinopathy of prematurity (ROP, retinalentral fibroplasia) affects vessels at the junction of the vascular and non-vascularised retina. Follow-up only needs to take place until the retina is fully vascularised. Vascular proliferation may progress to retinal detachment, fibrosis and blindness. It was previously the commonest cause of blindness in children, but careful monitoring has reduced its incidence to a much smaller proportion of very low birth weight infants (more in extremely preterm infants). This is usually only grade 1 or 2 (reversible) rather than grade 3 or 4 (requiring treatment). It is first detected between 32 and 38 weeks of age, but may progress rapidly. Severe visual impairment occurs in only 1% of low birth weight infants.
A chest x-ray and ECG are routinely indicated. Correct
A grade 3/6 murmur is likely to be pathological. Incorrect answer selected
Cyanosis on crying may occur in the normal child. Correct
Babies with weak femoral pulses should be re-examined a few hours later. Incorrect answer selected
A loud second heart sound may be normal. Incorrect answer selected Heart murmurs are often audible in the neonatal period, but resolve shortly afterwards. Only occasionally are these caused by congenital heart disease. Innocent murmurs are usually soft and either blowing or buzzing in character. They are usually localised to the left sternal edge with no diastolic component and no radiation. The heart sounds are normal and there are no accompanying thrills, cyanosis nor abnormal pulses. Cyanosis may occur in the neonatal period when crying due to shunting through a patent foramen ovale. A loud second heart sound or weak femoral pulses should always be taken as significant until proven otherwise, as neonates can deteriorate rapidly if they have significant heart disease.
The incidence of the idiopathic form varies inversely with gestational age. Correct
It may be caused by neonatal sepsis. Correct
It increases in frequency during non-REM sleep. Correct
Bag and mask ventilation is often required. Incorrect answer selected
May be treated with blood transfusion. Incorrect answer selected Periodic breathing must be distinguished from prolonged apnoeic pauses, since the latter may be associated with serious illness. The aetiology includes:
It is described as idiopathic when identifiable causes are absent. The idiopathic form varies inversely in frequency with gestational age. It is rare on day 1, but tends to start between day 2 and 7 of life. Sudden onset of severe apnoeas and bradycardia deserve investigation. Apnoea is defined as cessation of breathing for longer than 20 seconds or cessation of breathing is associated with cyanosis and bradycardia.
Treatment includes cutaneous stimulation, with bag and mask ventilation for recurrent or prolonged apnoea. Oxygen and Theophylline or caffeine should be prescribed if they recur. The haemoglobin should be maintained with transfusion or erythropoietin. Occasionally nasal CPAP is required for mixed or obstructive apnoeas (assists in splinting the upper airway). Unless severe, recurrent, or refractory to therapy, the prognosis is related to underlying conditions (IVH, BPD, ROP etc.). Apnoea of prematurity usually disappears by 36 weeks post-conceptual age, and does not predict future episodes of SIDS.
33-The following are characteristic of Bartter's Syndrome:
True / False
Secondary hyperaldosteronism Correct
Hyperkalaemia Correct
Metabolic acidosis Correct
Reduced renal concentrating ability Correct
Diarrhoea Correct Barter's Syndrome is a rare form of renal potassium wasting characterised by hypokalaemia, normotension, and elevated renin and aldosterone levels. It is occasionally autosomal recessive. There is hyperplasia of the juxtaglomerular apparatus in most cases. It is postulated that the primary defect is in chloride reabsorption in the ascending limb, resulting in sodium chloride excessively presented to the distal tubule, with sodium reabsorption in exchange for potassium, resulting in urinary sodium wasting. There is secondary stimulation of prostaglandin synthesis, which activates the renin angiotensin aldosterone system which exacerbates the renal potassium wasting. Growth failure, muscle weakness, constipation, polyuria and dehydration are typical in younger children with muscle weakness, cramps or carpopedal spasms present in older children. The potassium is <2.5mmol/L, there is metabolic alkalosis, and hyperammonaemia with hyperaldosteronism. There are high levels of urinary potassium and chloride. The high urinary chloride level is helpful in distinguishing it from similar presentations which have low urinary chloride levels, such as liquorice, laxative, or diuretic use, persistent vomiting or diarrhoea, pyelonephritis, or diabetes insipidus. Oral potassium and indomethacin may be used.
Lack of extended family Correct Under-nutrition is the final common pathway, usually from a combination of inadequate or inappropriate feeding and psychosocial factors. Maternal depression or psychiatric illness, and poor maternal education may contribute. Accompanying, but probably not causative, factors include poor housing, poverty, inadequate social support, and lack of extended family.
35-Human milk contains more of the following than cows' milk formula.
True / False
Lactalbumin Correct
Calcium Correct
Iron Correct
Folic acid Correct
Sodium Correct Cow's milk formula has been adjusted to have a similar amount of lactalbumin to breast milk. There is less iron, but about half is bio-available compared with only 4% bio-availability of iron from cow's milk. The latter therefore is supplemented with iron.
36-The following are characteristic of gluten enteropathy:
True / False
Dermatitis herpetiformis Correct
Hyposplenism Correct
Mucosal ulceration Incorrect answer selected
Constipation Correct
Increased risk of oesophageal carcinoma Incorrect answer selected The mode of presentation of coeliac disease is variable; the majority present with diarrhoea. Children can have failure to thrive or vomiting as the only manifestation. Perhaps as many as 10% of children referred to endocrinologists for growth retardation without an endocrine or overt gastrointestinal disorder have gluten sensitivity. Anorexia is common and may be the major cause of weight loss or lack of weight gain. Infants with gluten-sensitive enteropathy are often, but not always, clingy, irritable, unhappy children who are difficult to comfort. In contrast to infants with cystic fibrosis, they are not interested in food, although this is not always the case. Pallor and abdominal distension are common. Large, bulky stools suggestive of constipation have been described in some children with this condition. Digital clubbing can occur.
There is an increased prevalence of gluten-sensitive enteropathy in children with selective IgA deficiency or diabetes mellitus compared with unaffected children. Lymphocytic gastritis occurs rarely.
Appropriately-diagnosed gluten-sensitive enteropathy is a lifelong condition requiring lifelong treatment.
There is an increased risk of oesophageal carcinoma, small bowel lymphoma, melanoma and non-Hodgkin lymphoma in long-standing enteropathy, especially with poor adherence to diet.
Dermatitis herpetiformis is seen most commonly in children 2-7 yr of age. It is characterised by symmetric, grouped, small, tense, erythematous, stinging, intensely pruritic papules and vesicles.
Aetiology is unknown; however, an association with gluten-sensitive enteropathy is found in 75-90% of patients. Aggressive gluten challenge generally unmasks the condition in the remainder of patients with dermatitis herpetiformis.
Is present in 5% of the male population at 6 months of age Correct
Is often associated with a hernia Incorrect answer selected
Should be operated on before the age of 6 years Incorrect answer selected
The testis and epididymis are usually not affected Correct
The risk of malignancy is not significantly increased Correct Failure to find one or both testes in the scrotum may indicate any variety of congenital or acquired conditions e.g. ectopic testes, maldescended testes , retractile or absent testes. 4.5% of males have an undescended testis at birth, falling to 0.8% bu 6 months. Maldescended or ectopic testes and true undescended testicles are differentiated from each other surgically. The ectopic testis has completed its descent through the inguinal canal but ends up in a subcutaneous location. Spontaneous testicular descent does not occur after the age of 1 year. Complications include infertility in adulthood, associated hernias and torsion and tumour development in the affected testis (if not operated before 11 years). The patient with cryptorchidism has a 20-40% chance of developing malignancy, and those most at risk are those untreated or those whose surgery was carried out during or after puberty.
38-Lidocaine
True / False
inhibits the generation of neuronal impulses Correct
inhibits the conduction of neuronal impulses Correct
is only effective via parenteral administration Correct
is effective for the treatment of both supraventricular and ventricular tachycardia Incorrect answer selected
is associated with haemolytic anaemia Incorrect answer selected Lidocaine is associated with the inhibtion of the conduction of neuronal impulses rather than inhibting the generation of impulses. It an effective local anaesthetic agent when used topically in urinary catheterisation for instance. It is associated with methaemoglobinaemia.
39-The following enzyme defects are associated with a characteristic body odour in infants:
True / False
Phenylalanine aminotransferase Correct
Galactose-phosphate-uridyl transferase Correct
Ornithine transcarbamylase deficiency Correct
Fumaryl acetoacetase Incorrect answer selected
Branched chain alpha ketoacid decarboxylase Incorrect answer selected The following inborn errors of amino acid metabolism are associated with abnormal odours: Glutaric acidaemia type II (sweaty feet), hawkinsinuria (swimming pool), isovaleric acidaemia (sweaty feet), maple syrup urine disease (maple syrup), methionine malabsorption (cabbage), multiple carboxylase deficiency (tomcat urine), oasthouse urine disease (hops-like), phenylketonuria (mousy or musty), trimethylaminuria (rotting fish), tyrosinaemia (rancid, fishy or cabbage-like). In addition, ketones may be smelt in diabetic ketoacidosis, and some intermediary disorders of fatty acid metabolism can result in fishy smells. The general rule is that if a child smells peculiar he requires a metabolic work-up.
It usually presents with severe metabolic acidosis, hypoglycaemia and seizures. Correct
The urine has a characteristic fishy smell. Correct
There is increased excretion of branch chain amino acids in the urine. Correct
There is a high risk of early death during acute illnesses. Correct Maple Syrup Urine Disease usually presents with severe metabolic acidosis, hypoglycaemia, and seizures. There is increased excretion of the branch chain amino acids, leucine, isoleucine and valine, resulting in a characteristic maple syrup smell in the urine. Delayed diagnosis can result in learning difficulties and neurological dysfunction, and acute illnesses may precipitate a rapid decline.
Children have higher than average weight gain because of fluid retention.
Correct
Children are susceptible to recurrent wheezing and chest infections. Correct
Cor pulmonale is a recognised complication. Correct
Doxopram therapy may be required. Correct
It is associated with an increased incidence of congenital heart disease. Incorrect answer selected
Bronchopulmonary dysplasia is thought to result from a combination of oxygen toxicity, pressure (alveolar stress and volume trauma), hypocapnic surponification, absorption atelectasis, and subsequent inflammation. This results in persistent ventilatory and oxygen requirement with hypoxia, hypocarbia, oxygen dependency, and the development of right sided heart failure. The chest x-ray changes from complete opacification with air bronchogram to interstitial emphysema. Histologically, there is alveolar coalescence with atelectasis, interstitial oedema, and focal thickening of the basement membrane with bronchial and bronchiolar mucosal metaplasia and hyperplasia. There is severe maldistribution of ventilation. It is defined by oxygen dependency at 36 weeks gestational age. Some patients require prolonged hospitalisation, but often they can be discharged on home oxygen therapy. Right heart failure and viral bronchiolitis are the major causes of death. The children also fail to thrive and require nutritional supplementation.
Treatment includes nebulised bronchodilators, Theophylline, diuretics, fluid restriction, and aggressive treatment of infection, and food supplementation. CPAP may be required for tracheomalacia and Dexamethasone may be helpful in reducing oxygen requirement and getting children off the ventilator. Complications include: growth failure, transient psychomotor retardation, parental stress, and nephrolithiasis, osteopenia, subglottic stenosis. Since new alveoli continue to develop up to the age of about 7 or 8, children often improve with age. Prognosis is good for children who have been weaned off oxygen prior to discharge from the NICU, but prolonged ventilation, associated IVH, pulmonary hypertension, cor pulmonale and oxygen dependence beyond 1 year of life are poor prognostic signs. Long term broncho-reactivity may be a problem.
42-A full term 3.50kg baby, Apgar score 7 at one minute, develops abdominal distension and bile-stained vomiting on the first day of life:
True / False
Neonatal necrotising enterocolitis is a likely diagnosis Correct
It is quite safe to exclude pyloric stenosis from the differential Incorrect answer selected
It is important to examine the facial features of the baby in making a diagnosis Correct
If the baby has not passed meconium, meconium ileus is unlikely to be the diagnosis Correct
Rectal examination will not yield any useful information Incorrect answer selected
This question relates to a scenario of small bowel obstruction. Obstruction may be complete or partial with complete obstructions leading to more dramatic presentations. High obstructive lesions tend to be associated with vomiting and in this case the vomit is bile stained suggesting the obstruction is distal to the ampulla of Vater.Lower lesions tend to lead to abdominal distension and constipation. Congenital causes of duodenal obstruction include duodenal atresia, malrotation , duodenal webs and annular pancreas. Duodenal atresia is the most common of these lesions and frequently is found in patients with Downs syndrome.It is therefore important to examine the facial features of the baby. Neonatal necrotising enterocolitis is unlikely.Its cause is unknown.It primarily affects premature or low birth weight infants.Clinical manifestations include abdominal distension, gastric retention and bloody stools in the first two weeks of life. Meconium impaction may cause an ileus and intestinal obstruction.
43-Regarding the Glasgow Coma Scale:
True / False
it may be modified for use in children Correct
it provides a score from 3 to 15 Correct
is only used for head injuries Correct
motor response is assessed Correct
pupil response to light is a parameter Correct The Glasgow Coma Score (GCS) provides a score from 3 to 15, depending on the BEST response observed in three different parameters (eye opening, verbal response and motor response). The pupil response to light is not included. The GCS was originally developed for use in brain trauma but is now used when evaluating other cerebral insults. A modified version is used in young children
44-A 7-year-old girl presents with acute cough and wheeze, and is given nebulised salbutamol. The following are indications for admission to hospital:
True / False
A peak flow rate of 80% of that predicted for height. Correct
Continuing cough. Correct
Respiratory rate of 40/min. Correct
Saturation of 90% in air. Correct
She looks tired. Correct Patients should be given nebulised bronchodilator therapy, and admitted if:
1. They have not responded clinically.
2. They are exhausted.
3. Their peak flow is markedly reduced (severe is defined as <50% of
predicted or best value, and life-threatening as <33% of predicted
Can be effectively treated with bromocriptine Incorrect answer selected
Has a similar clinical presentation to malignant hyperthermia Correct
Has autosomal dominant inheritance Correct
Is a contraindication to the use of suxamethonium Incorrect answer selected
Occurs in 6% of patients given neuroleptic drugs Correct The neuroleptic malignant syndrome (NMS) is a complication of neuroleptic drugs, but suxamethonium is not a trigger agent. It has a clinical presentation similar to malignant hyperthermia (MH), with a dantrolene responsive hypermetabolic state.
The main features of NMS include hyperthermia, muscle rigidity, altered consciousness, and autonomic disturbances.
NMS occurs after 0.5-1.4% of neuroleptic exposures and signs may appear hours to months after exposure. It has a mortality rate of approximately 15%. It is not an inherited disorder and is unrelated to familial susceptibility to MH. Drug treatment options include dantrolene and bromocryptine. Early management is similar to MH and cessation of the neuroleptic treatment is essential.
46-A 3-year-old boy presents with fever and headache. He has received oral Amoxicillin for 3 days. The following CSF findings exclude a partially treated meningitis:
True / False
Negative gram stain Correct
A CSF glucose of 45% of blood glucose Incorrect answer selected
A white cell count of 50 Incorrect answer selected
A negative CSF culture Correct
Negative Kernig's Sign Correct The assessment of children with suspected bacterial meningitis who have already received antibiotic therapy is a diagnostic conundrum. This applies to about 25-50% of children, so it is an important problem. Partial treatment may reduce the incidence of positive CSF gram stains to <60%, and it also reduces the ability to grow the bacteria, particularly meningococcus. CSF glucose, protein, neutrophils and bacterial antigen testing or PCR should be completely unaffected.
A normal cardiothoracic ratio excludes total anomalous pulmonary venous drainage. Correct
Persistent hypoxia in a child of 34 weeks gestation suggests transposition of the great arteries. Incorrect answer selected
A saturation of 91% in the right hand and 85% in the right leg suggests significant shunting. Correct
A ground glass appearance is not specific for hyaline membrane disease: Group B Streptococcus can also present in this way. In the nitrogen wash-out test, an arterial PO2 <13kPa in 100% oxygen suggests cyanotic congenital heart disease. Other causes of cyanosis, such as pneumonia or hyaline membrane disease, can normally be oxygenated beyond this level. A normal cardio-thoracic ration is characteristic of total anomalous pulmonary venous drainage. This is because the obstruction is extra-cardiac. The usual reason for hypoxia in a pre-term baby is hyaline membrane disease or infection, with cardiac causes being rarer. A significant difference in oxygen saturation between the pre-ductal and post-ductal circulations suggests that hypoxic blood is shunting from the pulmonary artery to the aorta.
Third nerve palsy causes an exotropia (divergent squint). There may be downward deviation of the affected eye and complete or partial ptosis of the upper lid. This occurs because of the unopposed lateral rectus and superior oblique actions. If the internal branch of the third nerve is involved, pupillary dilatation also occurs. Eye movements are limited nasally, in elevation, and in depression.
Usually has an indolent onset. Incorrect answer selected
Only a single crop of vesicles usually appear. Correct
Is typically associated with a high fever for over a week. Incorrect answer selected
Is more severe in reactivation disease. Incorrect answer selected Eczema herpeticum is the result of primary infection of eczematous skin with HSV. The severity varies from mild to fatal. There is usually an abrupt onset with crops appearing over 7-9 days. These may become coalesced. Typically, the child has a high fever for 7 days, and recurrent attacks can occur. Death can result from physiological disturbances (loss of fluid electrolytes and protein through the skin) or dissemination of the virus to brain and other organs or from secondary bacterial sepsis.
50-The following conditions can be successfully treated by surgery on the fetus:
True / False
Diaphragmatic hernia Correct
Hydrocephalus Correct
Hydronephrosis Correct
Pleural effusion Correct
Hypoplastic left heart syndrome Correct Fetal surgery is being attempted in specialised centres, but the results have been generally disappointing. Attempts to repair diaphragmatic hernia have resulted in preterm delivery, with no definite benefit on lung development. Pleural effusions have been successfully drained, but shunting of urinary obstructions have been disappointing. Treatment of hydrocephalus has largely been abandoned because the survivors are severely disabled, and the treatment of stenotic heart valves have only been successful in case reports. Currently, routine surgery is, therefore, not an option.
