Erythema infectiosum is an acute viral illness caused by Parvovirus B19. It is usually a mild flu-like illness and produces a maculopapular rash, appearing initially on the cheeks and then spreading towards extremities. The rash usually spares the palms and soles and gives a slapped appearance to the cheeks. It can be described as having a fishnet appearance on the body.

The trisomy 18 syndrome, also known as Edwards syndrome, is a common chromosomal disorder due to the presence of an extra chromosome 18, either full, mosaic trisomy, or partial trisomy 18q. The condition is the second most common autosomal trisomy syndrome after trisomy 21.
Currently, most cases of trisomy 18 are prenatally diagnosed, based on screening by maternal age, maternal serum marker screening, or detection of sonographic abnormalities (e.g., increased nuchal translucency thickness, growth retardation, choroid plexus cyst, overlapping of fingers, and congenital heart defects ).
The main clinical features include prenatal growth deficiency, characteristic craniofacial features (dolichocephaly, short palpebral fissures, micrognathia external anomalies of the ears, and redundant skin at the back of the neck), distinctive hand posture (overriding fingers: index finger overlapping the third and 5th finger overlapping the 4th), nail hypoplasia, short hallux, underdeveloped thumbs, short sternum, and club feet and major malformations (particularly involving the heart).

Neurofibromatosis Type 1 (also known as von Recklinghausen disease) does not present with cataracts.
The eye findings in NF1 are Lisch’s nodules, which are pigmentary lesions seen on the iris and constitute one of the major diagnostic features in this condition.

Note:
Interestingly, in another syndrome closely related to it, Neurofibromatosis type 2 (NF-2), cataracts can occur.
Early detection in family members may be made by finding lens opacities (both congenital polar cataracts and posterior lenticular opacities).

Other options:
– Incontinentia pigmenti is an X-linked dominant disorder with pigmentary skin changes, mental retardation and eye involvement in 40% of cases.
– Myotonic dystrophy is a triplet-repeat disorder with neurological symptoms and cataracts.
– Lowe syndrome (oculo-cerebro-renal syndrome) is an X-linked recessive condition. Males with this X-linked recessive condition have cataracts, hypotonia, mental retardation, generalised aminoaciduria and renal tubular acidosis with hypophosphatemia.
– Wilson disease is an inborn error of copper metabolism. The clinical features include hepatic involvement, progressive neurological features, eye involvement, including Kayser-Fleischer rings and cataracts.

Among the provided options, we would expect a normally developing six-month-old child to have lost Moro’s reflex.

Note:
The Moro reflex is present from birth and persists until 4 months of age. It is abnormal for the Moro reflex to persist much beyond this stage, and if it does, cerebral palsy should be considered.

A normal 6-month old baby should be able to roll over from front to back, readily follow objects with their eyes, transfer objects from hand to hand, recognise parental voices and babble and laugh.

Other options:
– Having a pincer grip is more typical of a 9-12-month-old.
– Although at 6 months babies are often able to sit briefly or with support, sitting steadily is typically seen at 9 months.
– Starting to stand with support is more typical of a 9-12-month-old.
– Waving bye-bye is more typical of a 9-12-month-old.

Infantile spasm belongs to the spectrum of seizure disorders. Infantile spasm manifests itself with loss of consciousness and jerky movements. The peak age of onset is between 4 and 6 months. Approximately 90% of infantile spasms begin before 12 months of age. It is rare for infantile spasms to begin during the first 2 weeks of life or after 18 months.

In this particular case, the symptoms and signs are suggestive for congenital dislocation of the hip. There are several risk factors present including, a breech delivery, female gender (female:male = 6:1) and oligohydramnios. It is also more common in the left hip than the right.

Maternal and fetal toxoplasma infection may be avoided by advising pregnant women to wear gloves when gardening or handling cat litter and to cook meat thoroughly. Affected babies are treated with pyrimethamine, sulfadiazine, and folic acid.

Intussusception causes abdominal pain leading to painful lower GI bleeding.

Intussusception is a condition in which part of the intestine folds into the section next to it. It most commonly involves the small bowel and rarely the large bowel. Intussusception doesn’t usually require surgical correction. 80% of cases can be both confirmed and reduced using barium, water-soluble or air-contrast enema.
However, up to 10% of cases can experience recurrence within 24 hours after reduction, warranting close monitoring during this period.

Most children have self-limiting and minor bleeds. However, children with massive bleeds will need emergency care and stabilisation.

The various causes of lower GI bleeding in neonates include:
– Anal fissures
– Milk protein or soy allergy
– Intussusception
– Volvulus
– Coagulopathies including haemorrhagic disease of the new-born
– Arteriovenous malformations
– Necrotising enterocolitis
– Hirschsprung enterocolitis
– Meckel’s diverticulitis
– Drugs (NSAIDs, heparin, indomethacin used for patent duct closure, dexamethasone)

The various causes of lower GI bleeding in children aged between 1 month to 2 years include:
– Infection
– Anal fissures
– Intussusception
– Malrotation with volvulus
– Milk protein or soy allergy
– Polyp
– Meckel’s diverticulum
– Duplication cyst
– Foreign body
– AV malformation
– Colitis of immune deficiency
– Tumour
– Haematoma

The causes of lower GI bleeding in children older than 2 years include:
– Polyp
– Inflammatory bowel disease (IBD)
– Infectious diarrhoea (caused by Escherichia coli and Shigella)
– Intussusception
– Haemangiomas
– Arteriovenous malformations
– Vasculitis
– Tumour

Broca’s area is usually supplied by branches from the middle cerebral artery and thus will be spared when the anterior cerebral artery is occluded.

Note:
The two internal carotid arteries and two vertebral arteries form an anastomosis known as the Circle of Willis on the inferior surface of the brain. Each half of the circle is formed by:
1. Anterior communicating artery
2. Anterior cerebral artery
3. Internal carotid artery
4. Posterior communicating artery
5. Posterior cerebral arteries and the termination of the basilar artery

The circle and its branches supply the corpus striatum, internal capsule, diencephalon and midbrain.

The presentation is suggestive of nephrotic syndrome. A trial of corticosteroids is the first step in treatment of idiopathic nephrotic syndrome. Diuretics are useful in managing symptomatic oedema. Cyclosporin and cyclophosphamide are indicated in frequently relapsing and steroid dependant disease.

The prompt is suggestive of acute appendicitis. The Alvarado score is a clinical scoring system used to determine the likelihood of appendicitis, so this is the correct answer. A score greater than 6 is generally considered at risk for having acute appendicitis. It has 8 different criteria included (symptoms, signs, and lab results) and divides patients into appendicitis unlikely, possible, probable, and definite. The Center Score is a score to access the likelihood that pharyngitis is due to Strep. The Child-Pugh score predicts prognosis in liver cirrhosis. The Glasgow score is two different scores– the Glasgow coma score in trauma, which estimates level of consciousness, essentially, and The Glasgow Imrie Criteria which determines the severity of acute pancreatitis based on 8 lab values. The MELD score predicts the severity of end-stage liver disease.

Among the provided options, we would expect a normally developing 18-month-old child to be able to carry toys while walking.

At 18 months, a normally developing child will show the following gross motor abilities:
– walks with the feet slightly apart
– runs carefully with the head held high
– pushes and pulls objects around the floor
– walks upstairs if the hand is held
– kneels on a flat surface without support
– carry toys while walking.

Other options:
– Intentionally kicking a ball is a skill typically acquired by 2.5 years, not 18 months.
– Jumping with two feet together from a small step is usually acquired by 2.5 years, not 18 months.
– Propelling a tricycle forwards by pushing with the feet on the floor is a milestone generally acquired by 2 years, not 18 months.
– Throwing a small ball overhand without falling is a milestone for children aged 2 years, not 18 months.

The most prudent course of action in the given clinical scenario is an ovary-sparing cystectomy. The history is 3-months and is already chronic. Furthermore, the cyst is greater than 5cm in size and at risk of torsion. This will relieve the cause of pain, reduce the risk of torsion and save ovarian function.

Other options:
– This is a simple cyst and not a malignancy, so imaging and referral are not indicated.
– Open oophorectomy was done in the past. However, this is very aggressive, and the modern approach is ovary-sparing.
– As the cyst is 7cm and at risk of torsion, conservative management is not appropriate.

A minority of affected individuals may experience severe liver failure. This happens most frequently in people with Wilson’s disease during adolescence and more commonly in women. These individuals may rapidly develop signs and symptoms of liver disease, often associated with anaemia due to breakdown of red blood cells (haemolysis) and mental confusion. In some patients, liver disease does not reveal itself, and the patient develops neurologic (brain-related) symptoms. Common neurological symptoms of Wilson disease that may appear and progress with time include tremor, involuntary movements, difficulty swallowing (dysphagia), difficulty speaking and poor articulation (dysarthria), lack of coordination, spasticity, dystonic postures, and muscle rigidity. Almost all affected individuals with the neurological symptoms of Wilson’s disease have Kayser-Fleischer rings in their eyes that can be identified by a slit lamp examination.

Children are very prone to dehydration during an episode of gastroenteritis. Dehydration is detected early by increased capillary filling time.

The clinical picture suggests that the child is severely dehydrated. IV fluid bolus then IV maintenance fluids is the correct option.

The child has Chronic suppurative otitis media (CSOM) which is defined as a perforated tympanic membrane with persistent drainage from the middle ear for more than 2-6 weeks.
CSOM differs from chronic serous otitis media in that chronic serous otitis media may be defined as a middle ear effusion without perforation that is reported to persist for more than 1-3 months.
Patients with chronic suppurative otitis media (CSOM) present with a draining ear of some duration and a premorbid history of recurrent acute otitis media, traumatic perforation, or the placement of ventilation tubes. Typically, they deny pain or discomfort. A common presenting symptom is hearing loss in the affected ear. Reports of fever, vertigo, and pain should raise concerns about infratemporal or intracranial complications. A history of persistent CSOM after appropriate medical treatment should alert the physician to consider cholesteatoma.
The external auditory canal may or may not be oedematous and is not typically tender. The discharge varies from fetid, purulent, and cheese like to clear and serous. Granulation tissue is often seen in the medial canal or middle ear space. The middle ear mucosa visualized through the perforation may be oedematous or even polypoid, pale, or erythematous.

Burkitt lymphoma is associated with the c-myc gene translocation, usually t(8;14).

Burkitt lymphoma is a rare high-grade non-Hodgkin lymphoma endemic to west Africa and the mosquito belt. It has a close association with the contraction of Epstein-Barr virus (EBV). Burkitt lymphoma often presents with symmetrical painless lymphadenopathy, systemic B symptoms (fever, sweats, and weight loss), central nervous system involvement, and bone marrow infiltration. Classically in the textbooks, the patient also develops a large jaw tumour.

Other aforementioned options are ruled out because:
1. t(9;22)-Chronic myeloid leukaemia
2. t(15;17)-Acute promyelocytic leukaemia
3. t(14;18)-Follicular Lymphoma
4. t(11;14)-Mantle Cell Lymphoma

Omega-shaped epiglottis is a characteristic feature in the X-ray of a patient with laryngomalacia.

Atopic dermatitis is an allergic condition which is more apparent in those children who have a positive family history in their 1st or 2nd degree relatives. In some cases, there might be a positive history of bronchial asthma. The best treatment option in this case would be topical application of 1% hydrocortisone ointment to the affected areas of the child. We cannot prescribe a strong ointment to the face because it may lead to skin atrophy, telangiectasia and other steroid related topical complications.

The presentation of the patient and the characteristic ring-like (Bull’s eye) rash are highly suggestive of a diagnosis of Lyme disease caused by Borrelia burgdorferi. The spirochete is transmitted by Ixodid ticks.

The initial presentation of this infection includes an erythema migrans rash that starts from the site of tick bite and gradually expands. Other features supporting the diagnosis are the history of camping, fever, joint pain, and the neurological symptoms presenting as facial nerve palsy.

Bilious (green) gastric aspirate or emesis indicates that the intestines are obstructed below the ampulla of Vater.
Gastrointestinal (GI) endoscopy is actually considered an essential diagnostic and therapeutic technique. Upper GI endoscopy in neonatal age allows for exploration of the oesophagus, stomach and duodenum; instead lower GI endoscopy easily reaches the sigmoid-colon junction.

Gastrointestinal polyps are common in children and may result in intussusception due to polyp traction. Treatment is usually surgical with enterotomy and removal of the polyp or of a segment of the bowel.

NICE guidelines suggest that at the premonitory stage (pre-hospital) the patient should receive Diazepam 10−20 mg given rectally, or midazolam 10 mg given buccally. If seizures continue, the patient should receive lorazepam IV.

Skin conditions resulting from excessive epidermal proliferation or inflammation, leading to a production of excessive scales, are referred to as papulosquamous disorders. These disorders can be generalized and localized. Localized causes of scaly lesions include tinea corporis, tinea cruris, tinea pedis, seborrheic dermatitis, psoriasis, pityriasis Versicolor, pityriasis alba, DLE, ichthyosis including Netherton syndrome (a severe form of ichthyosis which is autosomal recessive), and pellagra. Generalized causes include guttate psoriasis and pityriasis rosacea. Hand, foot, and mouth disease is a contagious viral illness that causes blisters in the mouth and on the extremities.

The main aim of randomisation in a clinical trial is to remove the bias and avoid any potential confounding variables. While in double blind studies both the investigators and the patients are not aware of which group they belong in, being blind is not essential in carrying out a randomized study, nor is it essential that the randomisation be done away from the study centre. A placebo also does not facilitate randomisation, which can be done in single centre and multi-centre trials.

The main problem with infants having gastroenteritis is dehydration. So they should be admitted to the hospital for IV fluids if they are not tolerating oral fluids.

Intussusception is a condition in which one segment of intestine telescopes inside of another, causing an intestinal obstruction. Although intussusception can occur anywhere in the gastrointestinal tract, it usually occurs at the junction of the small and large intestines. Most describe the symptoms of intussusception as a triad of colicky abdominal pain, bilious vomiting, and currant jelly stool. The primary symptom of intussusception is described as intermittent crampy abdominal pain.

Embryologically the testes are retroperitoneal structures in the posterior abdominal wall, attached to the anterolateral abdominal wall by the gubernaculum. The gubernaculum ‘pulls’ the testes through the deep inguinal ring, inguinal canal and superficial inguinal ring and over the pelvic brim. The gubernaculum is preceded by the processus vaginalis that is derived from the peritoneum anterior to the testes. The processus vaginalis pushes the muscle and fascial layers. These eventually make up the canal and the spermatic cord, into the scrotum. The gubernaculum persists as the scrotal ligament while part of the processus vaginalis remains as a bursa-like sac i.e. the tunica vaginalis testes. The testes therefore could be caught in any one of these places along its path of descending. The testes are never in the perineum.

Epiglottitis is characterized by the abrupt onset of severe symptoms. Without airway control and medical management, symptoms may rapidly progress to respiratory obstruction and death in a matter of hours.
Usually, no prodromal symptoms occur in children. Fever is usually the first symptom, and temperatures often reach 40°C. Acute epiglottitis may result in sudden, complete upper airway obstruction. Classic signs in children are four D’s: drooling, dyspnoea, dysphagia, and dysphonia.

Language/Communication milestones of 2 years old:
Points to things or pictures when they are named
Knows names of familiar people and body parts
Says sentences with 2 to 4 words
Follows simple instructions
Repeats words overheard in conversation
Points to things in a book

Bilirubin encephalopathy (BE), also known as kernicterus is a preventable complication of neonatal jaundice. Bilirubin deposits in the basal ganglia, hippocampus, geniculate bodies and cranial nerve nuclei, exerting direct neurotoxic effects and causing mass-destruction of neurons by apoptosis and necrosis.
The clinical features of this diagnosis have been well described and can be divided into 3 stages:
Phase 1 (first few days of life): Decreased alertness, hypotonia, and poor feeding are the typical signs. Obviously, these are quite nonspecific and could easily be indicative of a multitude of neonatal abnormalities. A high index of suspicion of possible BIND at this stage that leads to prompt intervention can halt the progression of the illness, significantly minimizing long-term sequelae. Of note, a seizure is not typically associated with acute bilirubin encephalopathy.
Phase 2 (variable onset and duration): Hypertonia of the extensor muscles is a typical sign. Patients present clinically with retrocollis (backward arching of the neck), opisthotonos (backward arching of the back), or both. Infants who progress to this phase develop long-term neurologic deficits.
Phase 3 (infants aged >1 wk): Hypotonia is a typical sign.

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%.

Complement activation plays a key role in the pathophysiology of SLE and it is recommended to continue monitoring serum levels of C3 and C4 to assess for disease activity. However, it is important to note that decreased serum complement is not consistently associated with disease flares.

Polycythaemia is described as an abnormal increase in the red cell mass. As this influences hyper-viscosity, a peripheral venous sample of blood haematocrit can be used to determine the packed cell volume. Polycythaemia is present if the venous haematocrit is >65% or <22g/dl if converted into a haemoglobin value. Though it is the method of choice for screening, capillary blood samples obtained though heel pricks in new-born may be as much as 15% higher than venous samples and thus high values must be confirmed with a venous sample.

Endometriosis is defined as the presence of normal endometrial mucosa (glands and stroma) abnormally implanted in locations other than the uterine cavity

About one third of women with endometriosis remain asymptomatic. When they do occur, symptoms, such as the following, typically reflect the area of involvement:
– Dysmenorrhea
– Heavy or irregular bleeding
– Pelvic pain
– Lower abdominal or back pain
– Dyspareunia
– Dyschezia (pain on defecation) – Often with cycles of diarrhoea and constipation
– Bloating, nausea, and vomiting
– Inguinal pain
– Pain on micturition and/or urinary frequency
– Pain during exercise
– Patients with endometriosis do not frequently have any physical examination findings beyond tenderness related to the site of involvement. – The most common finding is nonspecific pelvic tenderness.

Blood culture and sensitivity will distinguish the bacteria that is responsible for the infection and the effective antibiotic treatment to which the bacteria is sensitive.

If the 95% confidence interval contains zero (more precisely, the parameter value specified in the null hypothesis), then the effect will not be significant at the 0.05 level.

If the 95% CI for the DIFFERENCE between the 2 groups contains the value 0, this means that the p-value will be greater than 0.05. Conversely, if the 95% CI does not contain the value 0, then the p-value will be strictly less than 0.05. The same applies when comparing groups using a ratio, such as an odds ratio or risk ratio. When using a RATIO instead of a DIFFERENCE, the situation of no difference between the 2 groups will be indicated by a value of 1 instead of 0. If the ratio equals to 1, the 2 groups are equal. Hence, if the 95% CI of the ratio contains the value 1, the p-value will be greater than 0.05. Alternatively, if the 95% CI does not contain the value 1, the p-value is strictly less than 0.05.

Treatment of depression is an important component of maternal and neonatal health. The use of SSRIs and antidepressants in the first trimester are unlikely to carry any congenital risks. However the use of the antidepressants closer to delivery may result in some respiratory, motor, gastrointestinal and central nervous system problems, with the most concerning of these being persistent pulmonary hypertension of the new-born. Other conditions such as cleft palate, jaundice, neural tube defects or floppy baby syndrome have not been shown to occur with SSRI use.

The diagnosis of scabies can often be made clinically in patients with a pruritic rash and characteristic linear burrows. Definitive testing relies on the identification of mites or their eggs, eggshell fragments, or scybala. This is best undertaken by placing a drop of mineral oil directly over the burrow on the skin and then superficially scraping longitudinally and laterally across the skin with a scalpel blade. (Avoid causing bleeding.) Scraping 15 or more burrows often produces only 1 or 2 eggs or mites, except in a case of crusted scabies, in which many mites will be present.
The sample is placed on a microscope slide and examined under low and high power. Potassium hydroxide should not be used, since it can dissolve mite pellets. Failure to find mites is common and does not rule out the diagnosis of scabies.

A low serum free T4 level with a low, or normal serum TSH level would indicate secondary hypothyroidism. A normal TSH response to TRH is a rise at 20 minutes post-dose and then a fall by 60 minutes, while a normal prolactin response would be a rise at 20 minutes and then a fall by 60 minutes. A continued rise of TSH at 60 minutes implies hypothalamic damage. Secondary hypothyroidism is indicated by a low baseline TSH level, while primary hypothyroidism is demonstrated by a raised TSH.

The trigeminal nerve is responsible for the sensory innervation of the head, and the muscles of mastication. The nerve is divided into three branches, the ophthalmic nerve (V1) the mandibular nerve (V2) and the maxillary nerve (V3) which all exit the skull through their respective foramina. An easy way to remember these foramina is with the following mnemonic:

Standing Room Only, for V1-V3 respectively

V1- Superior orbital Fissure
V2- foramen Rotundum
V3 foramen Ovale

Measles and chickenpox are spread by droplets. Thus, patients should be isolated.
Rheumatic fever and post-streptococcal glomerulonephritis are immune mediated diseases that don’t require isolation.
Herpetic gingivostomatitis spreads by direct transmission of infected secretions to the stratified squamous epithelium.
HSP is not an infectious disease.

The most probable diagnosis for this patient’s symptoms is psoriasis.

Psoriasis:
Chronic plaque psoriasis is characterised by pinkish-red hyperkeratotic plaques, which occur mainly on extensor surfaces such as knees and elbows. The lower back, ears and scalp can also be involved.

Koebner phenomenon: Psoriasis typically exhibits this phenomenon where new plaques of psoriasis occur particularly at sites of skin trauma.

Diagnosis:
Skin biopsy of psoriatic plaques reveals acanthosis and parakeratosis, reflecting increased skin turnover. Capillary dilatation within the dermis also occurs, surrounded by a mixed neutrophilic and lymphohistiocytic perivascular infiltrate.

A three-year child’s typical developmental milestones include walking up and down the stairs with alternating feet, jumping in a place with two feet together, and jumping forward for about 2 feet. The child can pedal a tricycle and can throw a ball over and underhand.
An average child should start walking around 12-14 months of age and should be investigated as early as 18 months if they do not begin to walk.
Skipping can be done by a child of 5 years of age.
A child of 6-7 years of age can ride a bike with stabilizers and can balance on one foot for 20 seconds.

Metabolic alkalosis is characterized by a primary increase in the concentration of serum bicarbonate ions. This may occur as a consequence of a loss of hydrogen ions or a gain in bicarbonate. Hydrogen ions may be lost through the kidneys or the GI tract, as for example during vomiting, nasogastric suction or use of diuretics. Intracellular shifting of hydrogen ions develops mainly during hypokalaemia to maintain neutrality. Gain in bicarbonate ions may develop during administration of sodium bicarbonate in high amounts or in amounts that exceed the capacity of excretion of the kidneys, as seen in renal failure. Fluid losses may be another cause of metabolic alkalosis, causing the reduction of extracellular fluid volume.

HbA1c stands for glycated haemoglobin. In patients with haemolytic diseases associated with a shortened RBC survival, HbA1c levels can be unusually low despite controlled diabetes mellitus.
These haemolytic diseases can include glucose-6-phosphate dehydrogenase deficiency and sickle cell anaemia.

HbA1c:
It is a measure of non-enzymatic glycation which occurs due to haemoglobin’s exposure to plasma glucose. As plasma glucose increases so does HbA1c.
The level of HbA1c quantitively assesses the control of diabetes mellitus over the last 120 days (as this is the life span of a red blood cell).

Haemoglobin type A is separated on cation exchange chromatography
Other subsections include HbA1O, HbA1a, HbA1b.

According to the updated NICE recommendations (2015):
The target level of HbA1c in children with T1DM is 48 mmol/mol (6.5%) or lower. It is monitored every three months. Better control is associated with fewer long term complications

As her paracetamol level is under the required treatment threshold, she requires no medical treatment. However, she has taken a simultaneous drug overdose and excessive alcohol consumption. These two factors together require psychiatric evaluation and so she should be referred to the psychiatry ward.

The ductus arteriosus is normally patent during fetal life; it is an important structure in fetal development as it contributes to the flow of blood to the rest of the fetal organs and structure. From the 6th week of fetal life onwards, the ductus is responsible for most of the right ventricular outflow, and it contributes to 60% of the total cardiac output throughout fetal life. Only about 5-10% of its outflow passes through the lungs.
This patency is promoted by continual production of prostaglandin E2 (PGE2) by the ductus.
In the foetus, the oxygen tension is relatively low, because the pulmonary system is non-functional. Coupled with high levels of circulating prostaglandins, this acts to keep the ductus open. The high levels of prostaglandins result from the little amount of pulmonary circulation and the high levels of production in the placenta.
At birth, the placenta is removed, eliminating a major source of prostaglandin production, and the lungs expand, activating the organ in which most prostaglandins are metabolized. In addition, with the onset of normal respiration, oxygen tension in the blood markedly increases. Pulmonary vascular resistance decreases with this activity.
Normally, functional closure of the ductus arteriosus occurs by about 15 hours of life in healthy infants born at term. This occurs by abrupt contraction of the muscular wall of the ductus arteriosus, which is associated with increases in the partial pressure of oxygen (PO2) coincident with the first breath. A preferential shift of blood flow occurs; the blood moves away from the ductus and directly from the right ventricle into the lungs. Until functional closure is complete and PVR is lower than SVR, some residual left-to-right flow occurs from the aorta through the ductus and into the pulmonary arteries
A balance of factors that cause relaxation and contraction determine the vascular tone of the ductus. Major factors causing relaxation are the high prostaglandin levels, hypoxemia, and nitric oxide production in the ductus. Factors resulting in contraction include decreased prostaglandin levels, increased PO2, increased endothelin-1, norepinephrine, acetylcholine, bradykinin, and decreased PGE receptors. Increased prostaglandin sensitivity, in conjunction with pulmonary immaturity leading to hypoxia, contributes to the increased frequency of patent ductus arteriosus (PDA) in premature neonates.
Although functional closure usually occurs in the first few hours of life, true anatomic closure, in which the ductus loses the ability to reopen, may take several weeks. The second stage of closure related to the fibrous proliferation of the intima is complete in 2-3 weeks.

Croup is the most common aetiology for hoarseness, cough, and onset of acute stridor in febrile children. Symptoms of coryza may be absent, mild, or marked. The vast majority of children with croup recover without consequences or sequelae.

In this case, the affected individuals are all heterozygotes. Therefore, the mutation is autosomal dominant. Also, the mother does not carry the mutation, further confirming the autosomal dominant nature of the disease, which is most probably achondroplasia.

The recurrent laryngeal nerve (RLN) innervates all of the intrinsic muscles of the larynx except for the cricothyroid muscle, which is innervated by the superior laryngeal nerve (SLN).
Patients with unilateral vocal fold paralysis present with postoperative hoarseness or breathiness. The presentation is often subacute. At first, the vocal fold usually remains in the paramedian position, creating a fairly normal voice. Definite vocal changes may not manifest for days to weeks. The paralyzed vocal fold atrophies, causing the voice to worsen. Other potential sequelae of unilateral vocal-fold paralysis are dysphagia and aspiration.
Bilateral vocal-fold paralysis may occur after total thyroidectomy, and it usually manifests immediately after extubation. Both vocal folds remain in the paramedian position, causing partial airway obstruction. Patients with bilateral vocal-fold paralysis may present with biphasic stridor, respiratory distress, or both. On occasion, the airway is sufficient in the immediate postoperative period despite the paralyzed vocal folds. At follow-up, such patients may present with dyspnoea or stridor with exertion.

Point mutations are the type of mutations in which only a single nucleotide of the DNA is either deleted, substituted or a new single nucleotide is inserted into the DNA, causing alterations in the original normal DNA sequencing. The examples of point mutations include hemochromatosis, sickle cell disease, and Tay-Sach’s disease.
Huntington’s disease is a trinucleotide repeat disorder.
Down’s syndrome is characterized by an extra copy of chromosome 21, while Klinefelter syndrome is marked by an extra X chromosome.
Fragile X syndrome is also a trinucleotide repeat disorder.

Epilepsy is a common paediatric neurologic disorder characterized by seizures of varying frequency and intensity. There are many childhood or infantile epilepsy syndromes that can be categorized as benign epilepsy syndromes as the child suffering from these usually outgrows them after reaching a certain age, and they do not lead to significant cognitive or physical impairment. Some of these may not need any treatment. Such benign epilepsy syndromes include benign rolandic epilepsy, Panayiotopoulos syndrome, Gastaut type-idiopathic childhood occipital epilepsy, and idiopathic photosensitive occipital lobe epilepsy.
West syndrome, also called infantile spasms, is a serious infantile epileptic encephalopathy, characterized by multiple clusters of myoclonic spasms, and regression of the previous normally attained milestones. It is associated with severe cognitive and physical impairment, often leading to life long disability.

Recurrent bacterial infections may be due to lack of B-cell function, consequently resulting in a lack of gamma globulins production. Once the maternal antibodies have depleted, the disease manifests with greater severity and is called x-linked agammaglobulinemia also known as ‘X-linked hypogammaglobulinemia’, ‘XLA’ or ‘Bruton-type agammaglobulinemia. it is a rare x linked genetic disorder that compromises the bodies ability to fight infections.

Acute leukaemia causes immunodeficiency but not so specific.

DiGeorge syndrome is due to lack of T cell function.

Aplastic anaemia and EBV infection does not cause immunodeficiency.

To quantify differences between percentages you can use Fisher’s exact test.
Odds ratios, relative risks and number needed to treat are ways of quantifying differences between percentages in two groups, however are not in themselves significance tests.

Classic Kallmann syndrome (KS) is due to isolated hypogonadotropic hypogonadism. Most patients have gonadotropin-releasing hormone (GnRH) deficiency, as suggested by their response to pulsatile GnRH therapy. The hypothalamic-pituitary function is otherwise normal in most patients, and hypothalamic-pituitary imaging reveals no space-occupying lesions. By definition, either anosmia or severe hyposmia is present in patients with Kallmann syndrome.

The child has experienced the Somogyi phenomenon.
It is a phenomenon where there’s a morning rise in blood sugar. Often it occurs as posthypoglycemic hyperglycaemia and follows nocturnal hypoglycaemia. The mechanism is the production of counter-regulatory hormones like glucagon, cortisol and adrenaline, which increase glucose.
She can be managed by reducing her evening insulin dosage and increasing complex carbohydrates for supper (evening meal).

Type I diabetes mellitus:
It is a chronic illness that is characterised by the inability to produce insulin. It is caused by autoimmune destruction of the beta cells in the pancreas and often presents with ketoacidosis.
The patient can present with symptoms suggestive of polyuria, polydipsia, and weight loss. There can be periods of islet cell regeneration in these patients, which leads to a ‘honeymoon period’ of remission.
Symptoms occur when there is < 20% of islet cell activity left.
Insulin therapy is required in almost all children with type 1 diabetes.
Most children require multiple insulin injections throughout the day via subcutaneous insulin pumps.
Target HbA1c in these patients is 48 mmol/mol according to the updated NICE guidelines.

Congenital hypertrophy of the retinal pigment epithelium is one of FAP’s extra-intestinal manifestations. It appears in early childhood and affects an estimated 90% of those with FAP.

Thyroglossal cyst is the most common congenital thyroid anomaly which is clinically significant and affects women more than men. It is a vestigial remnant of developing thyroid. Although the thyroglossal cyst can develop anywhere along the thyroglossal duct, the most common site is in the midline between the isthmus of thyroid and hyoid bone, or just above the hyoid. Thyroglossal cysts are also associated with ectopic thyroid tissue. Clinically, the cyst moves upward with protrusion of the tongue. Rarely, the persistent duct can become malignant (thyroglossal duct carcinoma) where the cancerous cells arise in the ectopic thyroid tissue that are deposited along the duct. Exposure to radiation is a predisposing factor.

Juvenile angiofibroma (JA) is a rare benign vascular lesion of the skull base that affects young adolescent males. The management of JA is challenged by the abundant vascular blood supply of the lesion, along with the complex anatomy of the skull base and the young age of the affected population. JA typically affects the male population, most commonly between 9 and 19 years of age. The most frequent symptoms are nasal obstruction and epistaxis. Nasal obstruction may be bilateral despite the unilaterality of the lesion, due to nasopharyngeal extension as well as deviation of the nasal septum by the expansile lesion. Epistaxis is usually brisk and intermittent. Purulent nasal discharge and facial pain can be due to sinus drainage pathway obstruction, and conductive hearing loss indicates obstruction of the eustachian tube.

Precocious puberty refers to the appearance of physical and hormonal signs of pubertal development at an earlier age than is considered normal.
Most patients, particularly girls suspected of having central precocious puberty, are otherwise healthy children whose pubertal maturation begins at the early end of the normal distribution curve
In a series of more than 200 patients evaluated at a single medical centre, central precocious puberty occurred 5 times more often in girls than boys.
GnRH-dependent precocious puberty is treated with GnRH agonists or Luteinizing Hormone Releasing Hormone (LHRH).
Follow up every 4-6 months to ensure that progression of puberty has been arrested
Favourable signs include normalization of accelerated growth, reduction (or at least no increase) in size of breasts, and suppression of gonadotropin levels after a challenge of GnRH
The ideal testing frequency has not been established. Monitor bone age yearly to confirm that the rapid advancement seen in the untreated state has slowed, typically to a half year of bone age per year or less

Immunity against mumps develops over a long time. There is nothing to be done except to proceed with the usual vaccination schedule.

Noonan syndrome is one of the most common genetic diseases associated with congenital heart defects, being second in frequency only to Down syndrome.
Pulmonary stenosis and hypertrophic cardiomyopathy are generally the most common congenital heart defects found in Noonan syndrome.
Pulmonary stenosis is often associated with a thickened and dysplastic valve. It is usually difficult to obtain a satisfactory result using the transcatheter balloon dilatation of such dysplastic valves, so surgical intervention is more likely to be needed.
Hypertrophic cardiomyopathy involves predominantly the ventricular septum as asymmetric septal hypertrophy, but may also affect the ventricular free walls. Left ventricular outflow tract obstruction may occasionally be produced.

Familial/inherited short stature is the most likely and commonest factor resulting in short stature among the children. Klinefelter syndrome is characterised by tall stature, widely spaces nipples and infertility. Other factors include congenital heart disease, maternal deprivation and diabetes mellitus but these are the rare causes.

Power calculations are a important step in study design and preparation, but do not directly help with the interpretation of the results. They are used to determine how many subjects are needed in order to avoid errors in accepting or rejecting the null hypothesis. These calculations are not usually complex and for the best results, the power of the test should be set to above 80%.

Undescended testis (UDT) is a common abnormality, affecting about 1/20 males at birth. Half of these have delayed testicular descent, with the testis in the scrotum by 10-12 weeks after term. Beyond this spontaneous descent is rare. Current treatment recommendations are that UDT beyond 3 months need surgery between 6-12 months of age. Some children have scrotal testes in infancy but develop UDT later in childhood because the spermatic cord does not elongate with age, leaving the testis behind as the scrotum moves further from the groin.
The maldescended testis suffers heat stress when not at the lower scrotal temperature (33 degrees Celsius), interfering with testicular physiology and development of germ cells into spermatogonia. Recent evidence suggests orchidopexy between 6-12 months improves germ cell development, with early reports of improved fertility, but no evidence yet for changes in malignancy prognosis.

Hypospadias is also a common abnormality in new-born males, affecting about 1/150 boys. Androgens control masculinization of the genital tubercle into penis between 8-12 weeks’ gestation, with tabularization of the urethra from the perineum to the tip of the glans. If this process is disrupted hypospadias occurs, with a variable proximal urethral meatus, failed ventral preputial development producing a dorsal hood, and discrepancy in the ventral versus dorsal penile length, causing a ventral bend in the penis, known as chordee. Surgery to correct hypospadias is recommended between 6-18 months.

Polycythaemia is a commonly occurring neonatal disorder, which is characterized by a venous haematocrit ≥ 65%. It increases the blood viscosity and causes microcirculatory flow impairment in the end-organs. Causes of polycythaemia are multi-factorial, but the significant risk factors are maternal diabetes, SGA, LGA or post-term birth, infants with chromosomal abnormalities, and delayed clamping of the cord. Jaundice is not a recognized risk factor for polycythaemia.

Excessive weight loss is generally indicative of suboptimal feeding, and infants with excessive weight loss are potentially dehydrated or at risk of dehydration.
Jaundice associated with suboptimal breastfeeding-this is classically associated with weight loss >10% and a vicious cycle of sleepiness that in turn leads to further poor feeding.
In the absence of clinical signs of dehydration, no evidence suggests that overhydration is helpful. If the infant is dehydrated, hydration should be given as clinically indicated. However, if the infant can tolerate oral feeding, oral hydration with a breast milk substitute is likely to be superior to intravenous hydration because it reduces enterohepatic circulation of bilirubin and helps wash bilirubin out of the bowel.

The symptoms and signs described are suggestive of otitis externa. The key treatment for otitis externa is ear cleaning and antibiotic drops with steroid.

Congenital hypothyroidism is one of the most important diseases of the new-born, which may lead to mental and physical retardation when treatment is delayed or an appropriate dosage of thyroxine is not administered. The most alarming and earliest sign is jaundice, especially when it is prolonged, during the neonatal period.

Acute lymphoblastic leukaemia (ALL) is a cancer of the lymphoid line of blood cells characterized by the development of large numbers of immature lymphocytes. Symptoms may include feeling tired, frequent infections with fever as well as anaemia with thrombocytopenia. As an acute leukaemia, ALL progresses rapidly and is typically fatal within weeks or months if left untreated. The patient’s age also favours the diagnosis of ALL as it occurs most commonly in children, particularly those between the ages of two and five.

Low oxygen delivery in hypotension, hypoxia, oedema, intracranial hypertension or changes in cerebral blood flow should all be prevented to avoid secondary brain injury. There is no evidence to suggest that hypothermia prevents secondary brain injuries.

Compared to parametric tests, non parametric tests are seen to be less powerful as they often contend with fewer assumptions, and may use less information from the data. Sample sizes can be smaller. The samples do not have to follow a normal distribution as in parametric tests, and data may be ordinal, ranked or contain outliers that cannot be removed. Therefore nonparametric tests are well suited for these instances and do not need to be used as a last resort. They are not any more complex than parametric tests.

Bowel sounds in the chest and curved NG tube are suggestive of a diaphragm rupture, which has caused herniation of bowel into the thoracic cavity through the defect in the diaphragm.

The second pharyngeal arch or hyoid arch, is the second of six pharyngeal arches that develops in fetal life during the fourth week of development and assists in forming the side and front of the neck. Derivatives:

Skeletal – From the cartilage of the second arch arises:

Stapes,

Temporal styloid process,

Stylohyoid ligament, and

Lesser cornu of the hyoid bone.

Muscles:

Muscles of face

Occipitofrontalis muscle

Platysma

Stylohyoid muscle

Posterior belly of Digastric

Stapedius muscle

Auricular muscles

Nerve supply: Facial nerve

The baby has duodenal atresia.
Presenting symptoms and signs are results of high intestinal obstruction. Duodenal atresia is typically characterized by the onset of vomiting within hours of birth. While vomitus is most often bilious, it may be nonbilious because 15% of defects occur proximal to the ampulla of Vater. Occasionally, infants with duodenal stenosis escape detection of an abnormality and proceed into childhood or, rarely, into adulthood before a partial obstruction is noted. Nevertheless, one should assume any child with bilious vomiting has a proximal GI obstruction until proven otherwise, and further workup should be begun expeditiously.
congenital duodenal atresia is one of the more common intestinal anomalies treated by paediatric surgeons, occurring 1 in 2500-5000 live births. In 25-40% of cases, the anomaly is encountered in an infant with trisomy 21 (Down syndrome).

Carbon monoxide is a colourless gas, which is toxic to animals. It has a high affinity for haemoglobin (around 250 times greater than oxygen). It combines with haemoglobin forming carboxyhaemoglobin, which decreases the oxygen-carrying capacity of the blood, leading to a left-shift in the oxygen-dissociation curve. CO is produced endogenously in limited amounts (0.4ml per hour), but the toxic levels are higher.

Malabsorption of fat-soluble vitamins is likely in most people with Cystic Fibrosis (CF).
Factors that may contribute to fat-soluble vitamin deficiencies in CF include:
– Fat maldigestion and malabsorption as a consequence of pancreatic insufficiency and bile salt deficiency.
– Fat maldigestion and malabsorption due to suboptimal PERT or poor adherence to PERT especially with vitamin replacement therapy.
– Poor dietary intake due to anorexia or poor dietary sources of vitamins.
– Poor adherence to prescribed fat-soluble vitamin supplementation.
– Inappropriate vitamin supplementation regimens.
– Increased utilisation and reduced bioavailability.
– Short gut syndrome due to previous bowel resection.
– CF-related liver disease.
– Chronic antibiotic use.

Vitamin A is a fat-soluble vitamin that plays a role in the eye (dark adaptation), skin, respiratory and immune systems. Vitamin A deficiency may cause night blindness and can proceed to xerophthalmia in CF.

Severe vitamin D deficiency causes rickets in children and Osteomalacia in adults.

Vitamin E acts as an antioxidant reducing the effects of free radicals produced by infection and chronic inflammation, thus helping to protect cell membranes from oxidative damage.
Vitamin E deficiency has been associated with haemolytic anaemia in infants and may cause ataxia, neuromuscular degeneration and compromised cognitive function. Oxidative stress is enhanced in CF due to chronic respiratory inflammation.

Vitamin K is important for blood coagulation and bone health.

Familial adenomatous polyposis can have different inheritance patterns.

When familial adenomatous polyposis results from mutations in the APC gene, it is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition.

When familial adenomatous polyposis results from mutations in the MUTYH gene, it is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show signs and symptoms of the condition.

Hirsutism is the growth of excess hair in androgen dependent areas or in a male pattern. The phenomenon is found in conditions where there is abnormal androgen action. This can occur in adrenal lesions including congenital adrenal hyperplasia, and Cushing syndrome, or a failure to produce adequate female hormones such as PCOS and premature menopause. Similarly, drugs such as anabolic steroids, danazol and minoxidil can also cause hirsutism. Delayed puberty is unlikely to cause hirsutism.

Time and Event
Week 1: Implantation
Week 2: Formation of bilaminar disk
Week 3: Formation of primitive streak
Formation of notochord
Gastrulation
Week 4: Limb buds begin to form
Neural tube closes
Heart begins to beat
Week 10: Genitals are differentiated

Coarctation of the aorta is one of the serious forms of congenital heart diseases Occurring in about 1 in 2,500 births. It is characterized by a congenitally narrowed proximal thoracic aorta. Coarctation can occur in isolation but can accompany other cardiac lesions, including a bicuspid aortic valve in 70% of the cases and berry aneurysms in 10% of the cases. Coarctation of the aorta is commonly found in association with Turner’s syndrome, Edward’s syndrome, and Patau syndrome.

Ipecac, or syrup of ipecac (SOI), is a medication once used to induce vomiting. Its medical use has virtually vanished, and it is no longer recommended for routine use in toxic ingestion. The abuse of SOI as a purgative in eating disorders, however, is increasing.
Ipecac has a high safety profile. Common side effects include prolonged vomiting (greater than 1 hour), lethargy, somnolence, diarrhoea, fever, irritability. More severe complications can consist of aspiration pneumonia, Mallory-Weiss tears, pneumomediastinum, and gastric rupture.
The abuse of syrup of ipecac by patients with major eating disorders have been shown to have toxic effects on the skeletal and cardiac muscle.

The clinical presentation and way the boy ‘climbs up’ his legs to get up from a supine position (Gowers’ sign) suggests proximal muscle weakness secondary to dermatomyositis.

Dermatomyositis is an inflammatory myopathy that typically presents between the ages of five years and ten years.
The onset is insidious, and the proximal muscle weakness and raised creatine kinase might be mistaken for muscular dystrophy. However, the systemic illness and rash are characteristic features of the condition.

Using a Doppler device, you can estimate systolic BP even when the pulse is inaudible. Handheld and portable, the device uses ultrasound waves to detect the velocity of arterial blood flow. Helpful for patients with traumatic injuries or shock, the Doppler technique is also useful for children and patients whose BP is hard to hear because of oedema, obesity, vasoconstriction, or low cardiac output.

The umbilical cord that connects the fetus to the placenta is about 50cm long. This tissue consists of the body stalk and vitelline duct. The former containing the allantoic diverticulum and the umbilical vessels. The latter contains the connection linking the digestive tube and the yolk sac. This cord is wrapped by stratum of ectoderm and gelatinous tissue or jelly of Wharton. The right umbilical vein plus the vitelline vessels and ducts disappear and this at birth the cord has three vessels which are the umbilical vein and two umbilical arteries.

A periosteal reaction can result from a large number of causes, including injury and chronic irritation due to a medical condition such as hypertrophic osteopathy, bone healing in response to fracture, chronic stress injuries, subperiosteal hematomas, osteomyelitis, and cancer of the bone. This history is consistent with a toddler’s fracture. Here a minor, usually twisting, injury results in a spiral fracture of the tibia. An initial X-ray may appear normal as the periosteum holds the bone together preventing displacement. Ten days later a repeat X-ray will show callous formation and confirm the diagnosis.

Among the given options a 2-year-old child with normal developmental milestones will be able to pull and push large wheeled toys and squat to play with toys on the floor.

Other options:
– Bouncing and catching a ball is learnt by the age of 5.
– The ability to pedal a tricycle should be attained by 3 years of age, not 2.
– A child can walk on tip-toe by 2.5 and run on tip-toe by (option D) 3 years of age, not 2.
– The ability to momentarily maintain balance using one leg (option E) should be attained by 3 years.

Based on the presentation, the developmental age of the child is 8 months.

The primitive reflexes are indicators of functional integrity and maturity. The majority of reflexes do not persist beyond 6 months of age.

There are 13 reflexes of importance, including:
– Moro reflex
– Startle reflex
– Rooting reflex
– Sucking reflex
– Grasp reflex
– Voluntary palmar grasp reflex
– Voluntary reach reflex
– Stepping reflex
– Asymmetrical tonic neck reflex (ATNR)
– Parachute reflex
– Plantar reflex
– Tendon reflex
– Clonus

It is interesting to note that gastrocolic reflex is not a primitive reflex.

Ninety-five per cent of reflexes will have disappeared by the ages shown below:
– 6 weeks: Stepping
– 3-4 months: Palmar grasp and Moro
– 6 months: Sucking, rooting, and asymmetrical tonic neck reflex (ATNR)

Infective endocarditis (IE) is an acute infective pathology of the endocardium secondary to some underlying cardiac pathology like VSD and TOF. Most commonly, it is bacterial in origin, caused by staphylococcus aureus in the majority of cases. Clinical features include fever, arthralgias, weight loss, anorexia, new-onset, or changing existing murmur. Skin manifestations include Osler’s nodes, Janeway lesions, splinter haemorrhages, and clubbing. Roth spots are conjunctival haemorrhages found in IE. Beau’s lines are not found in IE.

The most appropriate procedure in the surgical management of this child would be to perform an appendicostomy for anterior continence enemas (Malone procedure).

Idiopathic constipation leading to faecal incontinence is managed in a stepwise progression, first with laxatives such as movicol, enemas and stronger laxatives and in younger children inter-sphincteric injection of botox may be performed. Following this either anal irrigation or antegrade continence enemas are performed.

Appendicostomy for anterior continence enemas allow colonic washouts and thereby rapid achievement of continence.

Other options:
– Defunctioning Ileostomy: Although an option in extreme cases, an ACE stoma would be more appropriate in this child.
– Laparotomy for resection of the megarectum is performed if ACE stoma fails due to megarectum.
– Left hemicolectomy is a procedure reserved for slow-transit colons to increase transit time.
– Bishop-Koop stoma: It is a procedure of historical significance. It is a way of washing out and managing meconium ileus.

The history is suggestive of a post-traumatic seizure which frequently occurs after moderate or severe traumatic brain injury. Although upgoing plantars can be identified in a post-ictal status, an intracranial bleed has to be excluded. A single seizure cannot be considered epilepsy

Alopecia is a scalp condition characterized by either overall baldness or patches of hair loss over the head. It can be broadly classified as scarring alopecia and non-scarring alopecia. Non-scarring is the most common type and is seen in various conditions like nutritional deficiencies, alopecia areata, hypothyroidism, tinea capitis, and SLE. Scarring alopecia is commonly seen in cases of discoid lupus erythematosus, which is a common cause of widespread inflammatory and scarring lesions all over the body and scalp.

Psoriasis is an autoimmune dermatological condition that causes cells of the epidermal layer to rapidly develop, leading to itchy scaly plaques. Phototherapy with UV radiation has emerged as a new treatment for difficult to treat psoriasis. The therapy works by inducing epidermal cell apoptosis by DNA damage through the formation of pyrimidine dimerization, disrupting the cell cycle. This slows the rapid proliferation of cells.

In a child with an age of 12 months – pincer grasp should be well developed.

It is essential to have a good grasp of important milestones. Most 12-month-old children will be mobile, by standing holding onto a support, lifting one foot and moving it sideways (‘cruising’ around the furniture).
They will demonstrate a neat pincer grasp, e.g. picking up a raisin or piece of paper between the tip of the index finger and the thumb. Words (or meaningful word-like utterances) are produced, but words are not usually chosen and put together deliberately by a child until after the second birthday (typically around the age of 30 months). Word combinations used earlier than this are likely to be an echo of a learnt phrase which may be understood by the child to be one single word even though they are a combination of more than one word (e.g. daddy, home). Building a tower of three cubes and following a one-step command such as ‘take off your socks’, is expected at 18 months.

Transfusion with blood products carries a risk of acute and more chronic adverse reactions. These reactions can either be immune mediated due to a component mismatch, or non immune, underpinned by bacterial or viral contamination. Reactions range from very mild such as urticaria, to life threatening in the case of transfusion-related acute lung injury. In transfusion with packed red blood cells, the most common adverse event is pyrexia, while urticaria is the most common adverse event that follows infusion with FFP.

The general target of weight gain in the neonatal intensive care unit is to replicate the intrauterine growth in the third trimester, which equates to the daily weight gain of nearly 15 g/kg/day with infants receiving 120 kcal/kg/day