mrcpch a&b notes

21
MRCPCH A&B-NOTES A number of inhaler devices have been developed which do not require co-ordination of actuation with inhalation. These include: Turbohaler: Terbutaline, Budesonide. From 3 years. Spinhaler: Cromoglycate. From 3 years. Diskhaler: Salbutamol, Beclomethasone. From 3 years. Spacer devices include: Nebuhaler: Terbutaline, Budesonide. From infancy (with mask). Volumatic: Salbutamol, Beclomethasone. From infancy (with mask). Features of severe and life-threatening acute asthma include: Severe: Too breathless to talk of feed, respiratory rate >50/min, pulse rate >140/min, peak flow <50% predicted or best value. Life-threatening: Peak flow <33% predicted or best value, fatigue, agitation, drowsiness, cyanosis, silent chest, or a poor respiratory effort. The ethmoid sinuses are present from birth, with significant infections occurring in the sphenoid sinuses from about 3-5 years, and frontal sinuses from 6 years. High anion gap is MUDPILES – Methanol, uraemia, DKA, Paraldehyde, Infection, Lactic acidosis, Ethylene glycol/ethanol and Salicylates Of the extra-intestinal manifestations that occur with IBD, joint, skin, eye, mouth, and hepato-biliary involvement tend to be associated with colitis whether ulcerative or Crohn's colitis. Correlation with bowel disease: Yes: peripheral arthritis, erythema nodosum, and anaemia. Maybe: pyoderma gangrenosum No: sclerosing cholangitis, ankylosing spondylitis, and sacro-iliitis, uveitis. Arthritis may be associated with F-positive antinuclear antibodies ? A 2 year old child would be able to build a tower of 6-7 blocks and kick a ball without losing balance and organise phrases of 2-3 words. Naming of three colours would be expected by aged 5, amd use plurals would be expected by age 3. Hop on one foot should be achieved by aged 4. Most children with schizophrenia show delays in language and other functions long before their psychotic symptoms (hallucinations, delusions, and disordered thinking) appear, usually at age seven or later

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Page 1: Mrcpch a&b Notes

MRCPCH A&B-NOTES

A number of inhaler devices have been developed which do not require co-ordination of actuation with inhalation. These include:

Turbohaler: Terbutaline, Budesonide. From 3 years. Spinhaler: Cromoglycate. From 3 years. Diskhaler: Salbutamol, Beclomethasone. From 3 years.

Spacer devices include:

Nebuhaler: Terbutaline, Budesonide. From infancy (with mask). Volumatic: Salbutamol, Beclomethasone. From infancy (with mask).

Features of severe and life-threatening acute asthma include:

Severe: Too breathless to talk of feed, respiratory rate >50/min, pulse rate >140/min, peak flow <50% predicted or best value.

Life-threatening: Peak flow <33% predicted or best value, fatigue, agitation, drowsiness, cyanosis, silent chest, or a poor respiratory effort.

The ethmoid sinuses are present from birth, with significant infections occurring in the sphenoid sinuses from about 3-5 years, and frontal sinuses from 6 years.

High anion gapis MUDPILES – Methanol, uraemia, DKA, Paraldehyde, Infection, Lactic acidosis, Ethylene glycol/ethanol and Salicylates

Of the extra-intestinal manifestations that occur with IBD, joint, skin, eye, mouth, and hepato-biliary involvement tend to be associated with colitis whether ulcerative or Crohn's colitis. Correlation with bowel disease:

Yes: peripheral arthritis, erythema nodosum, and anaemia. Maybe: pyoderma gangrenosum No: sclerosing cholangitis, ankylosing spondylitis, and sacro-iliitis, uveitis.

Arthritis may be associated with F-positive antinuclear antibodies

?A 2 year old child would be able to build a tower of 6-7 blocks and kick a ball without losing balance and organise phrases of 2-3 words. Naming of three colours would be expected by aged 5, amd use plurals would be expected by age 3. Hop on one foot should be achieved by aged 4.

Most children with schizophrenia show delays in language and other functions long before their psychotic symptoms (hallucinations, delusions, and disordered thinking) appear, usually at age seven or later

Childhood psychotic features are similar to adults except that the presentation is usually more chronic. Withdrawal and mutism are features with outbursts described.   absence of speech  intense outbursts of temper

Metronidazole:

  feelings of depersonalisation

Page 2: Mrcpch a&b Notes

B   Has 80% bioavailability if given rectally.C   Has harmful effects with alcohol.D   Causes coloured urine.E   Causes peripheral neuropathy.Reduced to active derivative which binds to DNA and inhibits acid synthesis. Disulfiram reaction with alcohol. Some types of Warfarin. Metallic taste, hypotension, peripheral neuropathy

DR4 and DW4 are associated with diabetes.

Rheumatoid arthritis is a disease of the synovial membrane. It results in joint destruction, pannus formation and periarticular erosion. DR4 and DW4 are associated with diabetes. The female to male ratio is 3:1. The hand, elbows and knees are the commonest joints involved. Extra-articular manifestations occur in 20% and include keratoconjuctivitis sicca, episcleritis, pulmonary nodules, pleural effusions, pericarditis and subcutaneous rheumatoid nodules.

Colle's fracture involves the distal radius. A Bennett's fracture is an intra-articular fracture of the base of the first metacarpal. A Galeazzi's fracture involves the radial shaft with dislocation of the distal radioulnar joint. A Pott's fracture is a general term applied to fractures around the ankle.. Monteggia's fracture is angulated fracture at the junction of the proximal and middle third of ulna accompained by ANTERIOR dislocation of the radial head.

MUGR mnemonic

Monteggia with ulna (proximal) Galeazzi with radius (distal)

In the fetal circulation, the vast majority of blood bypasses the lungs through the ductus arteriosus, but the right and left ventricles pump approximately equal volumes. The fetus is relatively hypoxaemic, with fetal haemoglobin being used to increase oxygen carriage to the tissues. Only 10% of cardiac output traverses the fetal lung, and the ductus venosus remains patent until the postnatal period. Approximately 50% of umbilical venous catheters can be passed through it into the right atrium postnatally. The pulmonary-vascular resistance remains suprasystemic until the time of the first breath, when the combination of lung aeration reducing pulmonary blood pressure, and umbilical ligation increasing systemic blood pressure reverses the situation.

Essential fatty acid deficiency causes a generalised scaly dermatitis,and alopecia and thrombocytopenia.

. Scabies is characterised by Pimple-like irritations, burrows or rash of the skin, especially the webbing between the fingers; the skin folds on the wrist, elbow, or knee; the penis, the breast, or shoulder blades. A number of treatments are available for the treatment of scabies, including permethrin ointment, benzyl benzoate, and oral ivermectin for resistant cases. Antihistamines and calamine lotion may be used to alleviate itching.

Polyhydramnios can be due to maternal factors such as maternal diabetes and Rh incompatibility. 20% of babies are born with a congenital defect. Duodenal atresia, GI obstruction and tracheoesophageal fistula are all associated. 22% of babies with polyhydramnios have a congenital heart abnormality,40% have a GI problem and 26% have CNS disorders. Renal agenesis will result in absence of urine and oligohydramnios

Prenatal diagnosis of neural tube defect may be accomplished by:Assay of amniotic fluid acetylcholinesterase

A sacral dimple occurs in 2% of babies and is most commonly not associated with neural tube defects.

Thyrotoxicosis in early life may cause delayed sexual maturation, although physical development is normal and skeletal growth may be accelerated.

Female pubertal development is mediated partly by ovarian oestrogen and partly by adrenal androgens. Oestrogen promotes thelarche, linear growth, vaginal development and altered body shape. Adrenarche results in the development of pubic and axillary hair and acne. Menarche takes place after the onset of Adrenarche and 18-24 months after thelarche

Page 3: Mrcpch a&b Notes

Most females have reached peak height velocity 1.3 years before menarche.

Girls reach peak height velocity one year after the beginning of puberty and 1 year prior to menarche. The average span from breast stage 2 (11yrs) to menarche (12.9y) is 2 years.

Maple syrup urine disease results in the accumulation of branched chain amino acids and causes defective gluconeogenesis and hence hypoglycaemia.

11 beta hydroxylase deficiency can cause virilisation with hypertension.

Beyond the age of 4 years soiling is abnormal.

The upper airway warms and humidifies the inspired air, and filters off particles larger than 1005 microns. Only particles below about 1 micron can reach the respiratory bronchioles and air spaces. Intermediate size particles are trapped by the mucociliary blanket, with a normal beat frequency of 1000/min. Each ciliated cell has about 275 cilia, and the blanket moves towards the pharynx at 1cm per minute. The cough reflex can generate pressures of up to 300mmHg, with flow rates of up to 5-6L/sec

Premature thelarche is common, with a peak incidence between 6 months and 2 years. It may be asymmetrical, and is differentiated from true precocious puberty by the absence of pubic hair development and a growth spurt. It is usually self-limitingA   Peak onset between 6 months and 2 years.

C   Asymmetrical breast enlargement.

elevated gonadal steroid levels increase height velocity and the rate of skeletal maturation as well as causing feminisation and breast development.

However pelvic ultrasound showing a normal uterine volume is the most sensitive discriminator between premature thelarche and true precocious puberty.

LHRH agonists are used in the treatment of precocious puberty of all types and not Clomiphene, an Estrogen antagonist.

Precocious puberty is approximately five times more common in females.

In females it is usually idiopathic, in males the commonest cause is a hypothalamic hamartoma

Spermatogenesis is commonly apparent from the age of 11 years and upwards, however motility, morphology and concentration do not reach adult levels till 17 years. The earliest detectable evidence of puberty in males is the increase in testicular size(length of 2.5cm and a volume of 4mls).The voice breaks at an average of 13.9y due to testosterone mediated growth of the laryngeal muscles, the cricothyroid cartillage and the larynx. The average testicular volume in the adult is around 20-25mls..

Infants of diabetic mothersThe risk of Type 1 diabetes developing in the child is 6.3% if the father is affected and 1.3% if the mother is affected.

Growth hormone deficiency is common following pituitary surgery and results in predominantly central obesity. Increased appetite may be the result of hypothalamic damage. Diabetes Insipidus rather than SIADH would be expected, though it would not cause weight gain. TSH deficiency would cause weight gain. Adrenal insufficiency would cause weight loss and fatigue.

Congenital hypothyroidism Is best monitored by regular assessment of height velocityThe incidence is one in 4000

The average age for breast development is 10.8y, but it may occur in normal females as early as 9 yrs and in some cases even earlier. The growth spurt in females occurs midway in puberty in females, approximately 1 year prior to menstruation and 1 year after thelarche. Menarche occurs at an average age of 12.9years , 2 years after thelarche and pubic hair development. Menstrual cycles in the first 2 years are mostly non ovulatory.

Page 4: Mrcpch a&b Notes

This classification is for fractures through the growth plate or the epiphysis (in Salter-Harris types II & IV the metaphyseal fragment is also involved but the diaphysis is never affected).Salter-Harris types I & II does not involve the germinal layer and therefore growth disturbance is uncommon.Salter-Harris types II & I are the commonest forms of epiphyseal injuries. In Salter-Harris types III & IV, the germinal layer is breached and growth disturbance is likely, although its incidence could be minimised by precise reduction of the fracture. Although not originally described, Salter-Harris type V fracture is recognised as a crushing injury of the epiphysis following which growth arrest is common. This fracture is often diagnosed retrospectively, when disturbance of physeal growth is apparent as a limb deformity. Because of the weakness of the growth plate, these injuries are relatively common, accounting for approximately one-third of all fractures in children.

Perthe’s disease is osteochondritis of the femoral head and affects those aged 3-11 years [commonest 4-7 years]. It is bilateral in 10% with a M:F ratio of 4:1. Patients (children) present with pain in hip or knees, and with a limp. All movements of the hip are restricted. It is not associated with obesity and obesity is a feature in patients with slipped upper femoral epiphysis. Early x-rays show widening of the joint space; later there is decrease in the size of the nuclear femoral head with patchy density. Normal x-ray is a feature of ‘irritable hip’ [also called transient synovitis]. The important differential diagnoses for this condition are: Slipped upper femoral epiphysis, Irritable hip and Tubercular arthritis.

About 80% of coeliac patients carry the histo-compatibility antigen HLA-B8, The associated haplotype is HLA-B8/DR3/DQW2.

Toddler’s diarrhoea affects children between the age of 1-5 years. It is not serious, the child is well and grows normally. It is characterised by 3 or more watery motions per day. Bits of undigested vegetable matter are usually present in the stool, which is offensive.

Giardia is a common cause of intestinal malabsorption. Blood loss is not a feature of this condition. It is a common cause of traveller’s diarrhoea.current test of choice ; the detection of antigens on the surface of the organisms in the stool specimen .

Lund and Browder chart (rule-of-nines) is useful in adult burns; in children, head makes up 14% of the total body surface area and the legs make up only 14%. Urine output of at least 1ml/kg/hr is required in this age group; 0.5 ml/kg/hr is adequate in adults. Ionotropes such as dopamine may be required if the urine output is not satisfactory. The wound depth should be estimated again after 24-48 hrs, since a partial thickness burn may progress to a full-thickness burn, thus altering the management plan.

Systemic causes of avasular necrosis (osteonecrosis) include:Systemic lupus erythematosus, Thalassaemia, Sickle-cell diseaseThe other systemic causes of avasular necrosis are:, scleroderma, infective endocarditis, alcoholism, extensive burns, radiation, diabetes mellitus, steroid therapy (e.g. following renal transplantation), Cushing’s disease and Gaucher’s disease. The local causes which predispose to this condition include: Rheumatoid arthritis (affecting that particular bone), trauma (as in fracture neck of femur; fractures of the scaphiod), severe osteoarthritis, and psoriatic arthropathy

Regarding Ewing’s sarcomaAssociated with a t11:22 chromosomal translocation

Achondroplasia is usually a hereditary condition but may also occur sporadically. It particularly affects the pre-bone cartilage of long bones at birth resulting in dwarfism. The affected individuals have a normal trunk length but short stumpy limbs all of the same length. They also have a large head with a saddle nose. Adult dwarfs have increasing lumbar lordosis, bow legs, and shortened proximal arms and legs. Intelligence level is usually normal. X-rays show short dense bones with flared ends with wide epiphysis.

toxic shock syndromeThis alarming syndrome could result even from small scalds in young children. The onset is sudden with vomiting, diarrhoea, temperature >40 degrees, diffuse macular rash which later desquamates, tachynoea and oliguria. These signs usually develop on the third or fourth day after sustaining the scald/burn and are associated with a drop in haemoglobin and white cell count. It is caused due to a toxin produced by Staphylococcus aureus phage type 29/52. Late complications include irritability, cerebral oedema, convulsions and coma. Treatment should be prompt with control of temperature by vasodilatation, reduction of cerebral oedema, if necessary by hyperventilation, and the administration of whole blood, immunoglobulins and antibiotics

Acute osteomyelitis is commonly caused by Staphyloccus aureus infection. Blood cultures may be positive in about 60% of cases.

Page 5: Mrcpch a&b Notes

At 3 months when placed prone an infant can lift his head with his arms extended. By 4 months head lag is lost and this is evident when raised from supine to the sitting position. At 5 months the baby starts to roll over and at 6 months the baby is starting to sit up with support for example cushions. Sitting unsupported is usually seen by 6-7 months and at 9 months the baby can start to crawl. Cruising is usually achieved by about 10 months or so and at 12 months the baby can rise independently and often starts to take a few steps alone. At 18 months the toddler can run although this is usually in a tiff fashion. He or she can ascend stairs with assistance and at 20 months the child can climb the stairs holding on to a rail. At 3 the child can ascend stairs in an adult fashion using alternating feet per step, however is unable to descend the stairs in such a fashion until 4 years of ageA child who is walking and runs stiffly can climb stairs if hand is held. 2 years

the fine motor area of development. At 4 months the infant is able to grasp big objects and move them in to the mid-line. At 6 months the baby can grasp an object such a rattle and starts to transfer it from hand to hand. He or she also starts to discover the rest of his or her body parts. The pincer grip develops between 6 or 9 months and by 10 months the fine pincer grip is achieved with the baby being able to pick up small pellet like objects between thumb and forefinger. At 18 months the baby starts to spontaneously scribble if offered a crayon for example and at 24 months the child is able to copy a straight line. By age 3 years the child can copy a circle, by 4 cross, by 4½ a square and by 5 years of age a triangle, and a diamond at about 6 years of age. At the age of 3 the child starts to draw people usually starting as a “head and stick” extremity person and as development progresses the person becomes more sophisticated.

A child who is starting to seek adequate role models and assumes feelings and habit of thought. 4 yearsA child is starting to indicate the need to sit on the potty, play is usually solitary at this age and the child tries to control objects over other children. 2 years

Canon waves are seen with unsynchronised closure of the tricuspid valve and right atrial contraction. ventricular pacing, nodal tachycardiaGiant V waves are seen with constrictive pericarditis and tall a waves but not cannon a waves are seen with Tricuspid stenosis.

night terrors. These are very common (approximately 3% of all children). Typically a child between the ages of 5 and 7 will awake between the age of 12am and 2am screaming. They appear frightened, they may have a tachycardia and dilated pupils. Children tend to fall back to sleep with total amnesia of the event the following morning.

Gram stains reveal organisms in approximately 80% of cases of bacterial meningitis.

A baby of 6 weeks has a full septic screen. His CSF shows 10 white cells predominantly lymphocytes, high protein and normal glucose. Tuberculous meningitis

In Crohn's disease the colonoscopy will reveal cobbled stone mucosal appearances with fistulae where as in ulcerative colitis crypt abscesses are present

relatively silent chest associated with pulsus paradoxus. This would suggest severe asthma. Other causes of pulsus paradoxus include pericardial tamponade/effusion/constriction and myocarditis

Menkes, kinky hair syndrome is a progressive cerebral deterioration associated with seizures and twisted fractured hair. It is X linked recessive and the underlying aetiology is an abnormality of Copper transport resulting in low Copper and low Caeruloplasmin.

Xeroderma pigmentosa is an autosomal recessive condition of defective DNA repair. Skin damage arise and malignant transformation results at multiple sites

This malignancy is 30 times more common in white children compared to black children . Ewing sarcomawith this malignancy being 7 times more common in Black Children compared with White children. Burkitt's nasopharyngeal carcinoma    

Gianotti-Crosti is a syndrome of non-pruritic erythematous papules on the face, buttocks and extremities. Characteristically related to Hepatitis B infection although other viruses for example EBV may be associated.gram negative pleomorphic bacillus Pertussis

Is caused by a paramyxovirus. Mumps

This infection is often followed by a transient immuno-deficiency. Glandular feverGlandular fever virus infects the B lymphocytes which results in an immuno-deficiency which is usually self limiting.

Page 6: Mrcpch a&b Notes

Mycosis Fungoides is acute alias T-cell lymphoma often presenting as superficial patchy dermatitis which is then developed in to tumours.

Erythema multiforme major is also known as Stevens-Johnson syndrome. It is a serious systemic disease which involve the two mucous membranes plus skin. Often follows respiratory symptoms and is associated with a conjunctivitis, uveitis and bullae. It may result in fluid loss, weakness as well as anaemia and neutropenia

Cutis Marmorata, a mottled, marbled type appearance to the skin. Common in Down's syndrome as well as other Trisomies, hypothyroidism and Cornelia-de-Lange syndrome

Cri-du-chat syndrome is due to a deletion of the short arm of chromosome 5. Affected individuals have a low birth weight, microcephaly and learning difficulties. They have a characteristic high pitch cry and facial dysmorphic features including low set ears and epicanthic folds.

Cornelia de-Lange – Small stature, moderate to severe learning difficulties. Limb abnormalities for example oligodactyly and phocomelia. Facial dysmorphic features included synophrys, bushy eyebrows and a long philtrum.

In Turner's syndrome cardiac defects are common. 30% include bicuspid aortic valves with the second most common heart defect being coarctation of the aorta. Aortic stenosis, mitral valve prolapse and hypertension are also found.

Simian creases are found in approximately 45% of babies with Down's syndrome.

Children with Rubinstein-Taybi syndrome are short in stature, which has a post-natal onset. They tend to have downward slanting palpable fissures and a hypoplastic mandible. Examination of the limbs may reveal broad thumbs and toes, flat feet and deep plantar creases.

Sotos' syndrome is also called cerebral gigantism. Birth length is usually over the 90th centile and there is rapid linear growth there on. Individuals have large hands and feet and macrocephaly. They have downward slanting eyes and a high arched palate and most children with Sotos' syndrome have learning difficulties.

A 15 year old boy started walking at 18 months of age. He has mild ptosis, absence of facial expression and neck weakness. His mother has similar symptoms Fascioscapulohumeral dystrophyThis is a description of fascioscapularhumeral dystrophy which typically presents in the teenage years. The family history does not suggest an X-linked disorder rather autosomal dominant.

Collapsed vertebra and osteopenia are uncommon in children. Coupled with low trauma fractures and no dysmorphism, type 1 osteogenesis imperfecta is likely. Wormian bones are indicative of osteogenesis impefecta. This condition is an important differential of NAI.

A 9 year old girl has chronic renal failure of unknown aetiology. She has blond hair and blue eyes and has developed hypothyroidism. She also has cataracts that are worsening over the last 2 years. This is a description of cystinosis which is confirmed by having high white cell cystine levels. Deposits of cystine may occur in the thyroid and lense. Children typically have blond hair and blue eyes.

A 4 year old child, with poor eating habits, iron deficiency anaemia and intermittent colicky abdominal pain. Constipation

congenital rubella. It occurs in children of non immunised women. Symptoms are absent in 50% of mothers. The foetus is most vulnerable in the first 16 weeks of pregnancy. Cataracts are associated with infections in weeks 8-9, deafness at 5-7 weeks and cardiac lesions from 5-10 weeks. Diagnosis is based on rising antibody titres in blood taken 10 days apart and the presence of IGM antibodies at 4-5 weeks from incubation period.

Persistent hyperinsulinaemic hypoglycaemia of infancy PHHI is a defect of the K+ ATP channels in the beta cell of the pancreas. There is autonomous secretion of insulin that is independent of the serum glucose concentration. These babies will have detectable insulin at the time of hypoglycaemia which would not occur normally. Treatment is with diazoxide and chlorothiazide, some require pancreatectomy.Charcot-Marie-Tooth syndrome - Autosomal dominant peroneal muscular dystropy.

Treacher Collins syndrome. Due developmental abnormalities of first and second pharyngeal pouch. Low set ears (80%), deafness 40%, under developed mandible.

Breast milk jaundice is defined as neonatal jaundice persisting for more than 28 days, with a total bilirubin level greater than 5.9mg/dl, in an otherwise healthy, thriving, breast-fed infant.

Page 7: Mrcpch a&b Notes

Causes diarrhoea by invading the brush border of the small intestine and causes vacuolation. Salmonella may contaminate foods improperly foods cooked or stored and invades the brush border of the small intestine. Symptoms include nausea, vomiting and diarrhoea approximately between 1-8 hours after ingestion

Aarskog syndrome. Features include mild – moderate learning difficulties, short stature, facial dysmorphic features include hypertelorism anteverted nostrils and a webbed neck. Genital abnormalities include shawl scrotum and crypt orchidism.

A 12 year old girl has seizures, depression and a conduct disorder. XXX syndrome. Individuals are tall and thin. They have behavioural problems and are mildly dysmorphic with epicanthic folds and hypertelorism. Seizures are common

Hepatitis B, C, and D cause chronic morbidity and mortality, with B causing a third of cases, hepatitis C a fifth of cases, and D being very rare.

Side effects of penicillamine include nausea, vomiting, rashes, marrow depression and thrombocytopenia. Proteinuria (10%) including nephrotic syndrome (reversible). Mammary hyperplasia. Haemolytic anaemia, SLE, polymyocytis, mouth ulcers.

The WHO classification of renal involvement in SLE uses a 5 step grading system:

I. No abnormality. II. Mesangial. III. Focal proliferation. IV. Diffuse proliferation. V. Membranous lupus.

The first 3 stages are associated with haematuria and slight proteinuria. The last 2 stages are associated with heavy proteinuria and haematuria, and stage 5 with nephrotic syndrome. Throughout, the deposits are predominantly mesangial.

microbial resistanceStaphylococcus epidermidis by slime production.Streptococcus faecalis by beta lactamase productionHerpes simplex by mutations of viral thymidine kinase.

Pseudomonas produce inducible betalactamases and slime. Staphylococcus aureus produces betalactamases.

Pneumocystis is an obligate extracellular parasite with attributes of both fungi and protozoa. Most humans are seropositive by 4 years of age, though the transmission mode is unknown. 40% of children with HIV and 10% with leukaemia get PCP if no prophylaxis is given. Infection is almost always of the lungs, and rarely outside. The onset is subtle, at a peak incidence of 3-6 months of age in HIV infected individuals, with a raised respiratory rate but no fever. There is a gradual increase in respiratory distress and cyanosis with few clinical signs.

Interferon alpha and beta inhibit via a replication and cell proliferation. They activate NK cells and MHC class 1 expression. Interferon gamma activates macrophages and NK cells, and leads to an increase in expression of MHC class 1 and 2, and to a decrease in IgE production. Interferon gamma levels increase in septic shock.

Therapeutically, interferon gamma has been used in chronic granulomatous disease and Omenn Syndrome. Interferon alpha has been used in massive cavernous haemangiomata. Interferon alpha is produced by many cell types, while interferon beta is produced by fibroblasts and interferon gamma by T cells.

ANCA reacts with neutrophil granules, and is detected by immunoflourescence. Two types are recognised, perinuclear (p-ANCA), or diffuse (c-ANCA). c-ANCA is associated with Wegener's granulomatosis, and vasculitides such as Kawasaki Disease. p-ANCA is rather more non-specific and is associated with glomerulonephritis, ulcerative colitis, congenital adrenal hyperplasia, Henoch Schonlein Purpura. Both can occur in HIV.

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AZT is a thymidine analogue which inhibits reverse transcriptase. Neutropenia is a relative contraindication. Is contraindicated if neutrophil count <0.75 x 109/L. Side effects include thrombocytopenia, neutropenia, and nausea. Rapid resistance develops due to an error-prone replication of the HIV virus and rapid mutations. AZT is particularly useful for preventing vertical transmission from mother to child.

Pauciarticular arthritis type 1 is associated with HLA DR8, 5, and 6, and with chronic iridocyclitis. Pauciarticular arthritis type 2 is associated with HLA B27 and the spondyloarthopathies. Rheumatoid factor + arthritis is associated with HLA DR4.Sicca Syndrome is rare: It is associated with Sjogren's Syndrome, chronic graft vs host disease and scurvy.

Poor prognostic factors in neuroblastoma

The most important prognostic features are age and stage of disease at diagnosis. Over the age of a year, the prognosis is poorer, particularly with advanced disease. Over expression of the N-Myc oncogene and evidence of deletion of material on chromosome 1 (del 1p) is also associated with a poorer prognosis.

The fact that the deoxygenation of the blood increases its ability to carry carbon dioxide is often known as the Haldane effect.

The retinoblastoma gene is a recessive suppressor gene located on chromosome 13.

Oncogene alterations are important causes of:

Rhabdomyosarcomas (ras oncogene). Burkitt's lymphoma (C-myc is translocated intact from its normal position on chromosome 8 to

chromosome 14). Neuroblastoma (N-myc proto-oncogene is seen in a proportion of patients with poor prognosis).

They should be contrasted with tumour suppressor genes. In this situation, the genes normally down regulate cell growth, and require inactivation to allow malignant growth. Examples include retinoblastoma.

Polycythemia rubra vera is a myeloproliferative disorder in which erythroid precursors of affected people do not require erythropoietin to stimulate growth.

Diagnostic criteria are:

Increased total red blood cell volume. Arterial oxygen saturation greater than or equal to 92% (to distinguish from secondary polycythemia). Splenomegaly. There may be thrombocytosis, leukocytosis and increased leukocyte alkaline phosphotase.

Treatment includes phlebotomy -/+ antiproliferative chemotherapy.

Complications:

Bleeding Thrombosis Malignant transformation: myelofibrosis, acute leukaemia

Prolonged survival is not unusual.

splenectomy

There is an increased risk of sudden overwhelming infection (sepsis or meningitis). The risk is increased in children under 5, and is decreased in splenectomies done for trauma, red cell membrane defects, immune cytopaenias. Encapsulated bacteria (Strep. pneumoniae, haemophilus influenzae, neisseria meningitidus, E. Coli) are commonest. The spleen is responsible for filtering the blood and for early antibody responses. There is also an increased risk of malaria.

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The sideroblastic anaemias are a heterogeneous group of hypochromic, microcytic anaemias, probably due to abnormalities of heme metabolism. Serum iron levels are raised, and ring sideroblasts are seen in the bone marrow (nucleated red cells with perinuclear haemosiderin granules that represent iron-laden mitochondria).

Sub-types include:

Pearson Syndrome: associated exocrine pancreatic dysfunction due to deletions in mitochondrial DNA. X-linked recessive: associated with splenomegaly. This may be pyridoxine sensitive or pyridoxine

refractory. Acquired: various inflammatory and malignant processes, alcoholism.

A Rastelli operation involves using a pulmonary of aortic homograft conduit to relieve pulmonary obstruction in double outlet right ventricle with pulmonary stenosis (Taussig-Bing heart).

A Blalock-Taussig shunt is used to increase pulmonary blood flow in duct dependent cyanotic conditions, e.g. pulmonary atresia.

A Stage 1 Norwood Procedure for hypoplastic left heart syndrome involves atrial septectomy and transection and ligation of the distal main pulmonary artery. The paroximal pulmonary artery is then connected to the hypoplastic aortic arch, while the coarcted segment of the aorta is repaired. An aorto-pulmonary shunt is created to connect the aorta to the main pulmonary artery to provide pulmonary blood flow. A Fontan procedure is used to direct blood flow from the systemic veins to the pulmonary artery directly, bypassing the hypoplastic ventricle.

Cardiac tamponade is caused by fluid in the pericardial sac constricting the heart. This results in pulsus paradoxis, raised jugular venous pulse, muffled heart sounds, and if severe, diminished pulse volume and shock. Cannon waves occur because of atrial contraction against the closed tricuspid valve as in atrial fibrillation, and pulsus alternans suggests a severely diseased ventricular muscle. Electrical alternans, with variable QRS complex amplitude, may be present in pericarditis.

Acyclovir is phosphorylated by viral thymidine kinase, which is triphosphorylated by cellular enzymes to inhibit the herpes simplex virus DNA polymerase, thereby acting as a DNA chain terminator. Erythromycin inhibits bacterial ribosomes. Vancomycin inhibits cell wall synthesis by a mechanism that differs from betalactamases (no cross-resistance). Penicillin by binding to specific receptors to increase bacterial cell wall permeability. Ciprofloxacin by inhibition of bacterial DNA gyrase.

Ataxia telangiectasia is an autosomal recessive disorder, with a defect that has now been localised to chromosome 11q 22-23. Ataxia occurs when a child first begins to walk, and subsequently, recurrent sinopulmonary infections occur. Telangiectasiae become evident at 3-6 years, because of the DNA repair defects (similar defects are found in Fanconi's anaemia and Bloom's Syndrome). The immune deficiency is variable, with the commonest being an IgA deficiency.

A short PR interval on the ECG is associated with

hypertrophic obstructive cardiomyopathy, Lown-Ganong-Levine syndrome, Duchenne muscular dystrophy, Friedrich's ataxia, WPW and Lown-Ganong-Levine syndromes

long PR interval = dystrophia myotonica, rheumatic carditis

Red scaling lesions are typical of tinea cruris, eczema and psoriasis. Dermatitis herpetiformis is associated with small bullae.

McCune-Albright's disease is a skeletal developmental anomaly of the bone-forming mesenchyme that manifests as a defect in osteoblastic differentiation and maturation. medullary bone is replaced by fibrous tissue, which appears radiolucent on radiographs, with the classically described ground-glass appearance. Sex incidence is equal and it is associated with precocious puberty, thyrotoxicosis, acromegaly, Cushing's syndrome. Pigmentation is unilateral.

Cystinosis is a rare disease causing the accumulation of the amino acid, cystine. Although cystine accumulates in the liver it does not cause cirrhosis. Cystinosis is associated with renal failure, muscle wasting, diabetes and hypothyroidism.

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ADH secretion is inhibited by dilution, cold, increased blood pressure, alcohol and tetracyclines. Barbiturates and SSRIs as well as sulphonylureas increase secretion.

Pulsus paradoxus is the exaggerated fall of pressure associated with inspiration due to disease process like asthma, constrictive pericarditis, tamponade and left ventricular disease (cardiomyopathy). It is not a feature of left ventricular failure.

Hypertension can be seen in congenital adrenal hyperplasia in both 11-beta-hydroxylase and 17 hydroxylase deficiencies.

Coarctation of the aorta (CoA) has a slight male preponderance and accounts for about 8% of all congenital heart disease. Preductal CoA is associated with other cardiac defects in about 40% of cases (ventricular septal defect, patent ductus arteriosus, transposition of the great arteries). These children become symptomatic in very early life. Postductal CoA is usually an isolated defect and usually does not produce symptoms in infancy. A blood pressure gradient of >20 mmHg suggests CoA. coarctation of the aorta is associated with a bicuspid aortic valve in more than 50% of cases.

Guillain-Barre syndrome (GBS) has been shown to be associated with C. jejuni infection. Pain is often a predominant feature of GBS and is the presenting symptom in up to 20% of cases. Children who present with pain often have significant emotional lability associated with vomiting and a headache. Pupillary abnormalities are not seen in GBS and when present suggest diptheria or botulism. The presence of over 50 lymphocytes/ml of CSF suggests polio or central nervous system lymphoma. In GBS the protein level in the CSF is typically 80-200 mg/dl. Paralysis of the lower limbs is usually symmetrical and is frequently associated with distal paresthesias and numbness.

Elicitation of the knee tendon jerk at birth usually causes crossed adductor spasm. This usually disappears by 8 months of age.

Absent ankle reflexes and extensor plantar reflexes are seen in the following conditionsIn abetalipoproteinaemia, metachromatic leukodystrophy, Friedreichs ataxia and vitamin B12 deficiency there are combinations of corticospinal tract dysfunction and peripheral neuropathy which result in the mixed upper and lower motor neuron signs.

The risk of having a child with Down's syndrome increases with maternal age, reaching 1 in 40 in women over the age of 44 years. After having had one child with Down's syndrome the risk of having another child with trisomy 21 is 1 in 200.

Gram +ve cocci Gram +ve bacilli Gram -ve cocci Gram -ve bacilli

Staph. aureusStrep. pyogenesStrep. pneumoniaeStrep. viridans

Clostridium sp.Corynebacterium diphtheriaeListeria sp.Bacillus anthracis

N. meningitidesM. gonorrhoeae

E. coliSalmonella sp.Shigella sp.Proteus sp.Klebsiella sp.Haemophilus sp.Bordetella pertussisPseudomonas sp.

Aniridia (sporadic) along with hemihypertrophy, renal dysplasia and Beckwith-Wiedemann syndrome are all associated with an increased incidence of Wilms' tumour. Ataxia telangiectasia is associated with an increased incidence of lymphoma and leukaemia. Fanconi's anaemia is also associated with an increased risk of developing leukaemias as well as hepatomas. 13q- syndrome is associated with an increased risk of developing a retinoblastoma. Other important associations include: xeroderma pigmentosa - skin cancer; congenital X-linked immunodeficiency and severe combined immunodeficiency disease - lymphoma and leukaemia; familial IgM deficiency and Wiskott-Aldrich syndrome - lymphoma; Down syndrome - leukaemia; 11p- syndrome - Wilms' tumour; von Hippel-Landau syndrome - phaeochromocytoma; multiple endocrine adenomatosis I - schwannoma; multiple endocrine adenomatosis II - phaeochromocytoma and thyroid carcinoma; familial polyposis - carcinoma of the colon. In Peutz-Jegher's syndrome the polyps are benign hamartomas but can undergo malignant change in adulthood.

Bulimia nervosa is an eating disorder in which an intense preoccupation with food and weight is accompanied by episodes of binge eating and self induced vomiting. Over 90% of cases are female. Recurrent vomiting may cause erosion of dental enamel and a worse prognosis occurs in patients with menstrual irregularities, biochemical disturbances and concurrent depressive.

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In the 1989 Children Act it is stated that the welfare of the child is paramount. An emergency protection order allows a child to be taken into care and lasts for 8 days. It may be extended at the discretion of the court for a further 7 days. After 3 days the parent or the child may challenge the order. A child assessment order allows medical or psychiatric examination to be carried out. A ful court order is necessary. If the parents or carers do not cooperate, the assessment order may be converted to an emergency protection order.

Bartter's syndrome presents with failure to thrive, muscle weakness, polyuria and normal blood pressure. Biochemical features include hypokalaemia (usually <2.5 mmol/l), hypochloridaemia, metabolic alkalosis, high urinary chloride and potassium. Hyperreninaemia, hyperaldosteronism and raised prostaglandin E2 may also be present. Bartter's syndrome can be inherited as an autosomal condition. The syndrome is thought to be due to a defect in chloride reabsorption in the ascending limb of the loop of Henle.

"a" waves are the positive deflection in the jugular venous pulse following right atrial contraction. This becomes giant in situations where the atrium is hypertrophied or contracts against resistance, such as constrictive pericarditis, pulmonary hypertension, and tricuspid stenosis or atresia.

In situations such as aortic stenosis, or left bundle branch block, delayed closure of the aortic valve results in reverse splitting.

Catalase positive organisms (Staphylococcus aureus, Klebsiella, Candida, Aspergillus)

Thus, in LFA1-deficiency, no pus can be formed. Pus production is characteristic of chronic granulomatous disease (CGD).

Deficiencies in C1r, s, and 2-4 result in vasculitidies; while deficiencies in C2, 3 and 5-8 are associated with an increased risk of septicaemia

Bacterial LPS from G-ve cell wall or lipoteichoic acid from G+ve activate a cytokine cascade, tumour necrosis factor, interleukin0, 6, 8, platelet activating factor and interferon gamma. This triggers complement, the coagulation cascade, and the kallikrein system. Polymorphs are activated and ACTH production stimulated. Peripheral vasodilatation, late vasoconstriction, myocardial depression, hypotension, ventilatory insufficiency and lactic acidosis occur.

The combination of pulmonary haemorrhage and glomerulonephritis may occur in: Goodpasture's Syndrome, SLE, HSP, polyarteritis nodosa, Wegener's granulomatosis

Normally, air can be demonstrated roentgenographically in the jejunum by 10-60 min, in the ileum by 2-3 hr, and in the colon by 3 hr after birth. Absence of rectal gas at 24 hr is abnormal.

FEATURES OF CROHN'S DISEASE:

Rectal bleeding - sometimes Abdominal mass - common Rectal disease - occasional Ileal involvement - common Perianal disease - common Strictures - common Fistula - common Skip lesions - common Transmural involvement - common Crypt abscesses - less common Granulomas - common Risk of colonic cancer - slightly increased

FEATURES OF ULCERATIVE COLITIS:

Rectal bleeding - common Abdominal mass - not present Rectal disease - nearly universal Ileal involvement - none (backwash ileitis) Perianal disease - unusual Strictures - unusual Fistula - unusual Skip lesions - unusual

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Trasmural involvement - unusual Crypt abscesses - common Granulomas - unusual Risk of colonic cancer - greatly increased.

Urine testing on 1+ is equivalent to 0.3g/L, 2+ to 1g/L, 3+ to 3g/L, and 4+ to >20g/L

Tubular proteinuria rarely exceeds 1g/day, whereas glomerular ranges from <1->30g/24 hours

The proximal tubule is responsible for reabsorption of glucose, amino acids, phosphate, urate, bicarbonate, and calcium. The distal tubule is responsible for chloride and water reabsorption and hydrogen iron secretion. The control of acid base balance involves the production of bicarbonate and ammonia.

. HIV, septicaemia, nephritis, eclampsia, profuse haemorrhage, active tuberculosis, typhoid fever, breast cancer, and malaria are contraindications to nursing, as are chronic poor nutrition, substance abuse, debility, severe neuroses, and postpartum psychoses.

The characteristics of the fetal alcohol syndrome include:

1. Prenatal onset and persistence of growth deficiency for length, weight, and head circumference. 2. Facial abnormalities, including short palpebral fissures, epicanthal folds, maxillary hypoplasia,

micrognathia, and thin upper lip. 3. Cardiac defects, primarily septal defects. 4. Minor joint and limb abnormalities, including some restriction of movement and altered palmar crease

patterns. 5. Delayed development and mental deficiency varying from borderline to severe. Fetal alcohol syndrome

is a common cause of mental retardation.

Neuroectodermal cells differentiate into neurons, astrocytes, oligodendrocytes, and ependymal cells, whereas microglial cells are derived from mesoderm. Eccrine sweat glands are derived from separate epidermal downgrowths.

Mesoderm: bladder, ureters. Endoderm: foregut, lungs, liver, branchial arches and thymus, pituitary.

Causes of neonatal jaundice include:

LESS THAN 24 HOURS: Haemolytic disease (Rhesus, ABO, enzyme or red cell membrane defects), congenital infection.

24 HOURS - TWO WEEKS: Physiological, breast milk, infection (e.g. urinary tract infection), haemolysis (as above), bruising, polycythaemia, Crigler-Najjar Syndrome.

GREATER THAN TWO WEEKS: o Unconjugated - physiological or breast milk, infection (particularly urinary tract infection),

hypothyroidism, haemolysis, high gastrointestinal obstruction.

Conjugated (>10% total bilirubin) - bile duct obstruction, e.g. biliary atresia, neonatal hepatitis.

Twins occur from natural causes about 1% of the time, with triplets approximately 1:10,000, and quadruplets 1:500,000.

In Down's Syndrome, non-disjunction accounts for 94% of cases. The incidence of this increases with increasing maternal age. 5% of cases are due to translocation, and 1% to mosaicism

craniosynostosis may be due to abnormal skull base development disrupting suture development.

Scaphocephaly - sagittal suture. Frontal plagiocephaly - coronal/sphenofrontal suture. Occipital plagiocephaly - infant positioning.

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Trigonocephaly - metopic suture. Turricephaly - coronal/sphenofrontal sutures.

The majority of tall children have a familial determinant for it. Other causes include:

Hormonal: excess adrenal androgens, excess sex steroids, excess pituitary growth hormone (very rare), hyperthyroidism.

Syndromes: Marfan's, homocystinuria, Klinefelter, Sotos, Beckwith.

Hypomagnesaemia is a feature of malabsorption syndromes, hypoparathyroidism, hypercalcaemia, hypocalcaemia, renal tubular acidosis, primary hyperaldosteronism, and alcoholism. It can occur because of prolonged diuretic therapy, through use of nephrotoxic agents, and because of prolonged intravenous therapy, particularly in infants, using non-magnesium containing fluids.

Normal bone age: familial short stature. Delayed: constitutional maturational delay, endocrinologic short stature, under-nutrition. Standards

include the Gruelich Pyle and the Tanner and Whitehouse Two Scores which can done on radiographs of the left wrist to look at ossification centres.

Advanced: puberty, androgens. Also tend to be advanced in the obese child.

Glucose intolerance is relatively common in pregnancy, in the premature, and in the obese. Secondary diabetes can occur in chronic pancreatitis, acromegaly, phaeochromocytoma or Cushing's Disease. It is also associated with ataxia telangiectasia, Werner and Cockayne Syndromes (associated with premature aging) and insulin-resistance occurs in Prader-Willi Syndrome. It is also associated with familial combined hyperlipidaemia, and familial hypertriglyceridaemia. Ataxia telangiectasia, Cockayne Syndrome, Huntington's Chorea, Prader-Willi Syndrome

In about half of patients with Beckwith-Wiedemann Syndrome, hypoglycaemia is a feature due to hyperinsulinism. There is macrosomia, microcephaly, macroglossia, visceromegaly, and omphalocele. The ear lobe fissures are horizontal. There is an association with Wilm's tumour, hepatoblastoma, and retinoblastoma

The gonads in the fetus are initially undifferentiated. In the absence of the SRY gene, female ovaries and genitalia will develop. In the presence of it, testes will develop. The leydig cells are responsible for testosterone and dihydrotestosterone production. These respectively determine the development of the Wolffian ducts in to male internal genitalia, and the male external genitalia. Sertoli cells in the testes are responsible for the production of anti-mullerian hormone, which inhibits the development of female internal genitalia.

The short synacthen test consists of a single dose of synthetic ACTH. Normally, there would be a prompt rise in cortisol production in response. If there is no effect, then a prolonged synacthen test should be done. This consists of administration of doses of successive days for 3 days. In centrally mediated (pituitary) defects, there is an increase in cortisol production over the course of 3 days. If there is a primary hypofunction of the adrenals, then no response occurs. The primary manifestations of hypopituitarism is growth failure, though microphallus, neonatal hypoglycaemia, apnoea or cyanosis may occur. Prolonged jaundice (conjugated and unconjugated) may occur. Peculiar facies may be noted, with prominent frontal bones, depressed saddle shaped nose, and well developed nasolabial folds, bulging eyes, and small chin. Genitalia are under-developed. Since the adrenals have been hypostimulated, cortrigenol responses in relation to hypoglycaemia will also be delayed. ACTH does not stimulate aldosterone secretion.

Cafe-au-lait spots are also found in: Russell-Silver Syndrome, ataxia telangiectasia, Fanconi anaemia, Bloom's Syndrome (increased chromosomal fragility), tuberous sclerosis, Gaucher's Disease, Chediak-Higashi Syndrome, multiple lentigines, epidermal nevus syndrome McCune-Albright's Syndrome, neurofibromatosis type I and are found in type II,

The Köbner phenomenon consists of new dermatological lesions appearing at sites of trauma. It is found in:

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Psoriasis. Epidermyolysis bullosa simplex. The rash of systemic onset juvenile chronic arthritis. Common warts. Lichen planus, lichen niditus, lichen sclerosis

Bulimia is defined in the Diagnostic and Statistical Manual of Mental Disorders (DSM-IV) as:

1. Recurrent episodes of binge eating (rapid consumption of a large amount of food in a period of less than 2 hours).

2. A fear of not being able to stop eating during binges. 3. Regular self-induced vomiting, use of laxatives, or rigorous dieting or fasting to counteract the effects of

binge eating. 4. A minimum average of 2 binge eating episodes per week for at least 3 months.

Self-evaluation unduly influenced by body weight and shape, but the disturbance not as excessive as anorexia nervosa

Impairments are any loss or abnormality of physiological function or anatomical structure. A disability is any restriction or lack of ability to the impairment. A handicap is a disadvantage from a disability which limits or prevents the fulfilment of a normal role.

one year review, expected findings are:

GROSS MOTOR: Walks with furniture (9 months), and walks with one hand at 12 months, taking a few steps unassisted.

FINE MOTOR/VISION: Good pincer grip from 10.5 months with no squint on observation or parental report.

LANGUAGE/HEARING: Understands simple commands, says "mama" or "dada", and one or two appropriate words by 13 months. No parental concerns about hearing.

SOCIAL: Drinks from a cup, feeds using a spoon or fingers. Wary of strangers, but socially responsive. Waves "bye bye" at 8 months.

By the age of 18 months, a child can build a tower of 3, a tower of 6 by 2 years, and a tower of 8 by 2.5 years. By this stage, simple conceptual objects can be built, such as a train, but a bridge (with one cube balancing on 2 others) requires the co-ordination of a 3 year old. Steps or pyramids are more complex structures requiring demonstration before accomplishment at about 4 years

By 2 years of age the average mobile toddler can:

GROSS MOTOR: Kick a ball FINE MOTOR/VISION: Build a tower of 6 cubes HEARING/SPEECH: Combine two words meaningfully (gimme dat)

SOCIAL: Feed with spoon, point to a body part, show symbolic play

At 3 years a normal child:

GROSS MOTOR: Is able to hop on one foot (42 months). FINE MOTOR/VISION: Manipulates small objects well, and by 4 years can draw a man of 3 parts. By 4

years he can copy a cross. LANGUAGE/HEARING: Able to give his first and last name and to recognise colours. SOCIAL: Can name a friend, can wash his hands and brush his teeth with help, can eat with a knife and

fork, has vivid make-believe play, and will play independently with other children present, and may show sympathy to an injured child. Likes hearing and telling stories.

Balancing on one leg is, on average, achieved at 42 months, and putting shoes on at around the same time.

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Shining a light into an eye tests the optic nerve, and both afferent and efferent pathways of III, while the consensual reflex tests only the efferent. Complete III palsy will remove all pupil reactions. The LGN is involved only in accommodation, not the light reflex

common organisms prevalent at various ages

<3 months of age: Group B Streptococcus, E. 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.

>6 years: Meningococcus, Pneumococcus

Cerebral palsy

Learning impairment in 60%. Epilepsy in 40%. Squints in 30%. Hearing loss and visual impairment in 20%. Speech and language disorders.

In addition, there may be considerable behavioural problems

NF-1 is peripheral, coded for on chromosome 17, and neurofibromata may be found on any peripheral nerve including the cranials. Visual or auditory impairment may result if there is compression of the 2nd or 8th cranial nerve. Meglancephaly with learning difficulty and epilepsy are recognised complications. NF-2 (central) is coded for on chromosome 22 and is characterised by bilateral acoustic neuromata with deafness ± the cerebellopontine angle syndrome (7th nerve palsy + cerebellar ataxia). Associations with both include pheochromocytoma, pulmonary hypertension, and renal artery stenosis. However the majority of people with neurofibromatosis carry no other features other than cutaneous stigmata.

testing of vision

At birth, face fixation and following can be demonstrated through a small arc. There is a preference for looking at patterned objects rather than plain ones, and in particular, round, red objects such as faces. By 6 weeks of age, optokinetic nystagmus can be demonstrated when the child looks at a moving striped target. By 6 months of age, they should be able to reach well for toys. By 2 years of age, they can identify specific pictures of reducing size, and by 3 years they can match letters. Snellen Charts can be used from about 5 years

Children can usually copy a circle at 3 years, a cross at 4 years, a square at 4.5 years and a triangle at 5 years. They can usually imitate (after seeing it done) approximately 6 months earlier for each of these.

Alpha errors refer to systematic bias. Random alpha errors can result in false associations being found, and they are, therefore, a measure of the accuracy and validity of a test. Errors are measurement biases, which may be due to the observer or the subject. They may be minimised by referring the test under scrutiny with the gold standard. Beta errors are random errors. In this case, there may be an error in not finding an association (a false negative). They are, therefore, measures of precision or reliability of tests, and these may be minimised using statistical analysis, using methods such as confidence intervals

BCG vaccine should always be given intradermally. Rabies, cholera and typhoid may also be given via this route.

positive test of high specificity thus rules in a diagnosis (SpPin) while a test of high sensitivity which is negative rules out a diagnosis (SnNout).

The 95% confidence interval is defined as: mean ± 1.96 x the standard error of the mean.

Commonly used parametric tests include those based on the normal distribution, t-tests (paired and unpaired), one way and two way ANOVA, Pearson's correlation coefficient, regression by least squares and multiple regression.

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Commonly used non-parametric tests:

Based on ordinal data: Mann-Whitney U-test, Wilcoxon match pairs test, Kruskal-Wallis, one way ANOVA by ranks.

Based on nominal data: x2 test, Fisher's exact test, McMemar's test.

Measurements may be continuous or categorical and single or 2 group.

Continuous data:

single group: a) normally distributed: mean standard deviation, 95% confidence interval. b) non-normal: median, range, interquartile range.

2 groups: mean difference, 95% confidence interval.

Categorical:

single group: rate (risk), 95% confidence interval. 2 groups: a) risk difference, 95% confidence interval. b) relative risk, 95% confidence interval. c) odds

ratio, 95% confidence interval.