Mature human breast milk is nutrient and enzyme rich, optimal for human infants. The average calorie requirement for a one month old infant is about 100kcal/kg/day. Lactose, the most abundant carbohydrate, is beneficial for the baby’s developing gastro intestinal system. The proteins in mature milk are mostly whey (as compared to a high proportion of casein in cows milk), which digests easily. Other proteins found in breast milk include immunoglobulin, lysozyme, lactoferrin and lactalbumin. In terms of micronutrients, while Vitamin K levels are low in breast milk, Vitamin A, C and E are found in higher concentrations than in cow’s milk.

The skin lesion described is the typical presentation of a keloid scar.Keloid scars extend beyond the limits of the incision.Note:Surgical wounds are either incisional or excisional and either clean, clean-contaminated or dirty. The main stages of wound healing include:- Haemostasis:It occurs minutes to hours following injury. It is characterised by the vasospasm in adjacent vessels, platelet plug formation and generation of fibrin rich clot.- Inflammation: It occurs typically 1-5 days after the injury. Neutrophils migrate into the wound (this is often impaired in diabetes). Growth factors, including basic fibroblast growth factor and vascular endothelial growth factor, are released in this phase. Fibroblasts replicate within the adjacent matrix and migrate into wound, while macrophages and fibroblasts couple matrix regeneration and clot substitution.- Regeneration: It occurs typically between 7-56 days after the injury. The factors that stimulate this phase are platelet-derived growth factor and transforming growth factor. They stimulate fibroblasts and epithelial cells. Fibroblasts produce a collagen network. Furthermore, they cause angiogenesis and thus wound healing.- Remodelling: This is considered the longest phase of the healing process and may last up to one year (or longer). During this phase, fibroblasts become differentiated (myofibroblasts), and these facilitate wound contraction. Collagen fibres are remodelled, and microvessels regress, leaving a pale scar.Clinical correlation:Abnormal scar formation:- Hypertrophic scars:It is the condition where excessive amounts of collagen are produced within a scar. Nodules may be present histologically containing randomly arranged fibrils within and parallel fibres on the surface. The tissue itself is confined to the extent of the wound itself and is usually the result of a full-thickness dermal injury. They may go on to develop contractures.- Keloid scars: This is also a condition where excessive amounts of collagen occur within a scar. A keloid scar will typically pass beyond the boundaries of the original injury. They do not contain nodules and may occur following even trivial injury. They do not regress over time and may recur following removal.

Also known as the hyoid arch, it forms the side and front of the neck. From its cartilage develops the styloid process, stylohyoid ligament and lesser cornu of the hyoid bone. The muscular derivatives include the muscles of facial expression, stapedius, stylohyoid and the posterior belly of the digastric. All these are innervated by cranial nerve VII but migrate into the area of the mandibular arch.

Alpha-fetoprotein has significance primarily as a tumour marker, but maternal levels are frequently measured to detect some of the congenital abnormalities, in which the levels of alpha-fetoprotein are either increased or decreased. The conditions associated with raised alpha-fetoprotein levels are: spina bifida, anencephaly, myelomeningocele, oesophageal atresia, congenital nephrotic syndrome, and turner’s syndrome. Down’s syndrome or trisomy 21 is associated with low levels of maternal alpha-fetoprotein.

Haemophilia A has an X-linked recessive pattern of inheritance, meaning that is a 50% chance of having a son with haemophilia and 50% chance of the daughters being carriers of the haemophilia gene.

At the age of three years a child is to be able to dress and undress himself with supervision, eat with a spoon and fork, build a tower with 9 cubes, give their full name and copy a circle. The child will not be able to make good cuts with scissions until he is about 5 years old.

Human breast milk composition changes with the progressive age of the infant. Breastmilk produced for a preterm baby often has a higher caloric content than breastmilk for a term baby. After the production of colostrum in the first days of life, the milk continues to mature. by week 4-6 milk can be considered fully mature. The average calories found in mature breastmilk are about 70kcal/100ml

The most probable diagnosis for this patient would be a duplex kidney with an ectopic ureter inserting below the bladder neck. Rationale: The Weigert-Myer law states that the upper moiety ureter inserts inferior and medial to the lower moiety ureter. Other options:- Horseshoe kidney would display as a single pelvic kidney on an ultrasound scan.- Ureterocele would be a cystic lesion within the bladder or may prolapse at birth. – Continence should not be affected by polycystic kidney disease. – The overactive bladder would cause frequency and urgency, neither of which is mentioned in the history.

Identify babies as being more likely to develop significant hyperbilirubinemia if they have any of the following factors:- gestational age under 38 weeks- a previous sibling with neonatal jaundice requiring phototherapy- mother’s intention to breastfeed exclusively- visible jaundice in the first 24 hours of life.

The boy needs re-hydration and hydro-electrolytic re-balancing due to fluid losses from the gastroenteritis and subsequent dehydration.

One-third of patients with Guillain-Barre syndrome suffer from diaphragm weakness which can lead to further respiratory complications if there is involvement of the tongue, palate, and neck muscles. Forced vital capacity (FVC) is the best way to monitor respiratory muscle function by assessing it repeatedly. Admission for ITU is suggested when FVC is below 20ml/kg and intubation recommended when FVC is 15ml/kg or below. FVC is used in any neurological disorders wherein the respiratory muscles are affected.

The most probable diagnosis in this patient would be febrile seizure plus syndrome.Rationale:All of the answers are possible epileptic conditions that this 8-year-old may have. However, the background history of febrile seizure together with a family history of febrile seizures, in a boy who is growing well, with no developmental delay, make febrile seizures plus the most appropriate differential diagnosis for this patient.Other options:- Epilepsy with myoclonic absences are often challenging to treat and may continue into adulthood. There is a male predominance (70%). At presentation, approximately half of cases have a learning disability. An absence seizure is common in this diagnosis and usually occurs daily.- Juvenile absence epilepsy may present with initial generalised tonic-clonic epilepsy followed by absences after that. They are also seen with a background of febrile seizure, and the peak age of presentation is usually at eight years old. Given the current history and lack of absences, this diagnosis is least likely.- Juvenile myoclonic epilepsy usually presents with a myoclonic seizure, although the presentation maybe with a generalised tonic-clonic seizure. It occurs more frequently. Background history of febrile fit may be present in 5-10% of the cases.- Temporal lobe epilepsy is usually associated with aura, and that is not seen in this patient.

The progesterone is primarily responsible for preventing pregnancy. The main mechanism of action is the prevention of ovulation| they inhibit follicular development and prevent ovulation. Progestogen negative feedback works at the hypothalamus to decreases the pulse frequency of gonadotropin-releasing hormone. This, in turn, will decrease the secretion of follicle-stimulating hormone (FSH) and decreases the secretion of luteinizing hormone (LH). If the follicle isn’t developing, then there is no increase in the oestradiol levels (the follicle makes oestradiol). The progestogen negative feedback and lack of oestrogen positive feedback on LH secretion stop the mid-cycle LH surge. With no follicle developed and no LH surge to release the follicle, there is the prevention of ovulation. Oestrogen has some effect with inhibiting follicular development because of its negative feedback on the anterior pituitary with slows FSH secretion| it’s just not as prominent as the progesterone’s effect. Another primary mechanism of action is progesterone’s ability to inhibit sperm from penetrating through the cervix and upper genital tract by making the cervical mucous unfriendly. Progesterone induced endometrial atrophy should deter implantation, but there is no proof that this occurs.

Vitamin A is a fat-soluble compound occurring in various forms. The RDA for 0-12 months old babies is 400-600micrograms/day. Most of the vitamin A is stored in the liver, making animal liver an excellent source of vitamin A. Vitamin A deficiency is characterized by the deposits of keratin in the conjunctiva, known as Bitot’s spots, keratomalacia, night blindness, and anaemia.Vitamin A toxicity or excess is characterized by hyperkeratosis, hypothyroidism, hypo/hyperpigmentation, etc.According to WHO guidelines, children under two years of age who develop measles should be given two additional doses of vitamin A supplementation 24 hours apart, which is necessary for preventing eye damage, blindness, and reducing mortality by 50%.

The P value is defined as the probability under the assumption of no effect or no difference (null hypothesis), of obtaining a result equal to or more extreme than what was actually observed. The P stands for probability and measures how likely it is that any observed difference between groups is due to chance. Being a probability, P can take any value between 0 and 1. Values close to 0 indicate that the observed difference is unlikely to be due to chance, whereas a P value close to 1 suggests no difference between the groups other than due to chance. Thus, it is common in medical journals to see adjectives such as “highly significant” or “very significant” after quoting the P value depending on how close to zero the value is.A lower p-value is sometimes interpreted as meaning there is a stronger relationship between two variables. However, statistical significance means that it is unlikely that the null hypothesis is true (less than 5%).To understand the strength of the difference between two groups (control vs. experimental) a researcher needs to calculate the effect size.

The correct answer is triple X syndrome with a genotype of XXX and an almost normal female phenotype. The extra X chromosome is inactive. The final phenotype of an individual is determined after normal sexual and gonadal differentiation, a process that involves several genes located on chromosomes X and Y. Disorders of sexual differentiation result in cases of ambiguous genitalia and are caused by a number of genetic abnormalities. Among these disorders is the turner syndrome with a genotype of 45X0, characterized by gonadal dysgenesis and ovarian failure. DAX-1 gene mutation leads to congenital adrenal hypoplasia and hypogonadotropic hypogonadism, which results in virilization of female external genitalia. Campomelic dysplasia results from mutation of the SOX-9 gene, leading to 46XY sex reversal. Danys-Drash syndrome is characterized by disordered sexual development in affected males due to the mutated WT-1 gene, which also causes Wilm’s tumour.

Correlation is a bivariate analysis that measures the strength of association between two variables and the direction of the relationship.Pearson r correlation: Pearson r correlation is the most widely used correlation statistic to measure the degree of the relationship between linearly related variables. Pearson’s correlation coefficient is the test that measures the statistical relationship, or association, between two continuous variables. It is known as the best method of measuring the association between variables of interest because it is based on the method of covariance. It gives information about the magnitude of the association, or correlation, as well as the direction of the relationship.The non-parametric Spearman or Kendall rank correlation coefficient is used if neither variable has a normal distribution or the sample size is small (i.e. <20).

Nephrogenic Diabetes Insipidus is an acquired or hereditary condition that affects the water balance. It presents with polyuria and polydipsia, leading commonly to dehydration.

The most serious side effects of IV Lorazepam include hallucinations, agitation, confusion, amnesia and muscle weakness.

NICE guidelines suggest that when a child’s single risk factor is 2 vomits, the child should be observed for 4 hours from the time of the injury, instead of having a CT.

Hydrocephalus is a serious medical condition resulting from excessive accumulation of cerebrospinal fluid in the brain leading to abnormal pressure build-up inside the brain. Hydrocephalus can be categorized into two types according to the flow of CSF between the ventricles. When the CSF flows freely between the ventricles, but is blocked after it exits the ventricular system, the hydrocephalus is said to be a communicating hydrocephalus. When the flow of CSF within the ventricles is blocked, the resulting hydrocephalus is termed as obstructive, or non-communicating. The communicating hydrocephalus is caused by insufficient reabsorption of CSF in the subarachnoid space, which is also observed in cases of bacterial meningitis, in which inflammatory process leads to the thickening of the leptomeninges and thereby reduces CSF reabsorption. Arnold Chiari malformation is associated with obstructive hydrocephalus due to blocked ventricles. Congenital aqueduct stenosis causes the blockage of third and lateral ventricles. Congenital atresia of the foramen of Monro leads to blocked lateral ventricles and thus results in obstructive hydrocephalus. Tumour of the posterior fossa is associated with blockage of the fourth ventricle outflow.

The most probable diagnosis in this patient would be pulmonary stenosis. Pulmonary Stenosis:Pulmonary valve murmurs are heard in the upper left sternal edge, associated with a thrill but no desaturation in the absence of an additional shunt. The ECG changes suggest right ventricular hypertrophy. Pulmonary stenosis is often well tolerated in childhood unless severe. These should be monitored with serial echocardiography, and balloon pulmonary valvoplasty should be considered once the pressure gradient reaches 64 mmHg.Other options:- Atrial septal defect: While atrial septal defects are associated with right ventricular outflow tract murmurs, they would not cause a thrill.- Patent ductus arteriosus: PDA murmurs can be audible in the left upper sternal edge, but would normally be audible in the left infraclavicular area and be continuous rather than ejection systolic. This left to right shunt would not cause desaturation but does cause left-sided volume loading and hence left-sided ECG changes.- Tetralogy of Fallot: Ventricular septal defect, overriding aorta, subpulmonary stenosis, and right ventricular hypertrophy. This would often cause a ULSE murmur with a thrill and RVH on ECG. However, this degree of obstruction would cause shunting from right to left, and this child would be desaturated.- Ventricular septal defect: Isolated ventricular septal defects cause pansystolic murmurs at the left lower sternal edge. They would have left-sided ECG changes and normal saturations (in the absence of pulmonary hypertension).

The most probable diagnosis for this patient would be Kawasaki disease.Kawasaki disease:It is an acute systemic disorder of childhood that predominantly occurs in Japan (800 cases per million in children under the age of 5 years). The causative factor is not known, but mycoplasma and HIV infection may be associated in some cases. Clinical Features:The principal clinical features are fever persisting for more than five days, bilateral non-purulent conjunctival congestion, cervical lymphadenopathy, polymorphous rash, arthralgia, palmar erythema and strawberry tongue. Other options:- Diffuse cutaneous systemic sclerosis is associated with skin, renal and gut involvement. Arthralgia, morning stiffness and flexor tenosynovitis are common. – Behçet syndrome is a vasculitis of unknown aetiology that characteristically targets venules. – Felty syndrome is the association of splenomegaly and neutropenia with rheumatoid arthritis. Lymphadenopathy is common, and there is a predisposition to recurrent infections.

The external aspect of the tympanic membrane is lined by stratified squamous epithelium. Clinical correlation: Following middle ear infections, this type of epithelium can migrate into the middle ear through a perforated tympanic membrane.The ear is composed of three anatomically distinct regions: – External ear: Auricle is composed of elastic cartilage covered by skin. The lobule has no cartilage and contains fat and fibrous tissue. External auditory meatus is variable in length, measuring approximately 2.5cm long in fully grown children. Lateral third of the external auditory meatus is cartilaginous, and the medial two-thirds is bony. The greater auricular nerve innervates the region. The auriculotemporal branch of the trigeminal nerve supplies most of the external auditory meatus and the lateral surface of the auricle. – Middle ear: It is the space between the tympanic membrane and cochlea. The aditus leads to the mastoid air cells is the route through which middle ear infections may cause mastoiditis. Anteriorly the eustachian tube connects the middle ear to the nasopharynx. The tympanic membrane consists of an outer layer of stratified squamous epithelium, a middle layer of fibrous tissue and an inner layer of mucous membrane continuous with the middle ear. The chorda tympani nerve passes on the medial side of the pars flaccida. The glossopharyngeal nerve and pain innervate the middle ear. Thus, pain may radiate to the middle ear following tonsillectomy. – Ossicles:Malleus attaches to the tympanic membrane (the Umbo). Malleus articulates with the incus (synovial joint). Incus attaches to stapes (another synovial joint). – Internal ear:It consists of the cochlea, semicircular canals, and vestibule. Organ of Corti is the sense organ of hearing and is located on the inside of the cochlear duct on the basilar membrane. Vestibule accommodates the utricle and the saccule. These structures contain endolymph and are surrounded by perilymph within the vestibule. The semicircular canals lie at various angles to the petrous temporal bone. All share a common opening into the vestibule.

3-year-old milestones:Social and Emotional:- Copies adults and friends – Shows affection for friends without prompting – Takes turns in games – Shows concern for crying friend – Understands the idea of “mine” and “his” or “hers” – Shows a wide range of emotions – Separates easily from mom and dad – May get upset with major changes in routine- Dresses and undresses self Language/Communication- Follows instructions with 2 or 3 steps – Can name most familiar things – Understands words like “in,” “on,” and “under” – Says first name, age, and sex- Names a friend – Says words like “I,” “me,” “we,” and “you” and some plurals (cars, dogs, cats) – Talks well enough for strangers to understand most of the time – Carries on a conversation using 2 to 3 sentencesCognitive (learning, thinking, problem-solving)- Can work toys with buttons, levers, and moving parts – Plays make-believe with dolls, animals, and people – Does puzzles with 3 or 4 pieces – Understands what “two” means – Copies a circle with a pencil or crayon – Turns book pages one at a time – Builds towers of more than 6 blocks – Screws and unscrews jar lids or turns the door handleMovement/Physical Development- Climbs well – Runs easily – Pedals a tricycle (3-wheel bike) – Walks up and downstairs, one foot on each stepDoing up buttons is a skill more usually seen in 5-year-olds.

After a period of 14 days, if jaundice persists in a term new-born, having ruled out the other possibilities, biliary atresia should be considered as a possible diagnosis.Biliary atresia is a rare but serious condition. Symptoms include obstructive jaundice (dark urine and pale stool). Management:Surgery within 8 weeks is recommended. Survival is around 90% using current treatment regimes. Without treatment, children will survive to around 18 months.

The age of the patient and the presence of immature white blood cells are suggestive of leukaemia. Hodgkin’s disease is unlikely in this age group and it usually presents with lymphadenopathy. In HIV, immature white blood cells are not present in the blood.

Alport syndrome is a genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. Alport syndrome can have different inheritance patterns. About 80 percent of cases are caused by mutations in type IV collagen genes (COL4A5) and are inherited in an X-linked autosomal recessive pattern, although other inheritance patterns exist. Alport syndrome has autosomal dominant inheritance in about 5 percent of cases.

People with Alport syndrome experience progressive loss of kidney function. Almost all affected individuals have blood in their urine (haematuria), which indicates abnormal functioning of the kidneys. Many people with Alport syndrome also develop high levels of protein in their urine (proteinuria). The kidneys become less able to function as this condition progresses, resulting in end-stage renal disease (ESRD).

People with Alport syndrome frequently develop sensorineural hearing loss, which is caused by abnormalities of the inner ear, during late childhood or early adolescence. Affected individuals may also have misshapen lenses in the eyes (anterior lenticonus) and abnormal coloration of the light-sensitive tissue at the back of the eye (retina). These eye abnormalities seldom lead to vision loss.

Significant hearing loss, eye abnormalities, and progressive kidney disease are more common in males with Alport syndrome than in affected females.

This child is experiencing delayed speech. By the age of 2, a child should be able to combine at least 2 words to make a very simple sentence.

Generally, bed-wetting before age 7 isn’t a concern as the child may still be developing night-time bladder control. The child is less than 5 years and most children will outgrow bed-wetting on their own. Therefore only reassurance and behavioural therapy are suggested at this stage.