The accuracy of the test for calcium levels in the blood is affected by the blood level of albumin. If albumin levels are low, the calcium level can also appear low.This is termed as pseudohypocalcemia.Hypocalcaemia usually presents with muscle spams. These can include spasms of voluntary muscle but also smooth muscle such as in the airways (causing bronchospasm) and in the heart (causing angina).

The most appropriate action in this baby would be to perform HIV PCR and commence cART and PCP prophylaxis if HIV positive.Treatment guidelines for HIV-positive infants state that all should receive combination antiretroviral therapy (cART) and Pneumocystis jiroveci pneumonia (PJP) prophylaxis, irrespective of CD4 count or viral load.

Anorexia nervosa is a serious, psychiatric eating disorder characterized by distorted self-image due to which abnormal eating behaviours are adopted. This disorder affects multiple bodily systems, including the gastrointestinal system. The GI manifestations of anorexia are enlarged salivary glands due to purging behaviour, gastritis, gastroparesis, acute gastric dilatation, superior mesenteric artery syndrome, elevated liver transaminases, which cause hepatocyte apoptosis leading to cirrhosis, and steatosis leading to fatty liver. Hepatosplenomegaly is not a recognized complication of anorexia nervosa.

Lead Poisoning Symptoms: Abdominal pain, bluish line on the gums (Burton line), wrist/foot drop, anaemia, nephropathy, encephalopathy, cognitive impairmentDiagnosis: Detectable in bloodBasophilic stippling of erythrocytes (disorder of heme synthesis) on smearTreatment: Succimer, Dimercaprol, EDTA

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 sensitivity of a screening test can be described in a variety of ways, typically such as sensitivity being the ability of a screening test to detect a true positive, being based on the true positive rate, reflecting a test’s ability to correctly identify all people who have a condition, or, if 100%, identifying all people with a condition of interest by those people testing positive on the test.The specificity of a test is defined in a variety of ways, typically such as specificity is the ability of a screening test to detect a true negative, being based on the true negative rate, correctly identifying people who do not have a condition, or, if 100%, identifying all patients who do not have the condition of interest by those people testing negative on the test.Sensitivity=[a/(a+c)]×100Specificity=[d/(b+d)]×100a: True positiveb: False Positivec: False negatived: True negative

There are four types of IVH. These are called grades and are based on the degree of bleeding.Grades 1 and 2 involve a smaller amount of bleeding. Most of the time, there are no long-term problems as a result of the bleeding. Grade 1 is also referred to as germinal matrix haemorrhage (GMH).Grades 3 and 4 involve more severe bleeding. The blood presses on (grade 3) or directly involves (grade 4) brain tissue. Grade 4 is also called an intraparenchymal haemorrhage. Blood clots can form and block the flow of cerebrospinal fluid. This can lead to increased fluid in the brain (hydrocephalus).

Liddle’s syndrome,  is an autosomal dominant disorder, that is characterized by early, and frequently severe, high blood pressure associated with low plasma renin activity, metabolic alkalosis, low blood potassium, and normal to low levels of aldosterone. Liddle syndrome involves abnormal kidney function, with excess reabsorption of sodium and loss of potassium from the renal tubule. Bartter Syndrome also presents with hypokalaemia, however blood pressure of these patients is usually low or normal.

Diffuse proliferative glomerulonephritis is a term used to describe a distinct histologic form of glomerulonephritis common to various types of systemic inflammatory diseases, including autoimmune disorders (e.g., systemic lupus erythematosus [SLE]), vasculitis syndromes (e.g., granulomatosis with polyangiitis), and infectious processes. In DPGN, more than 50% of the glomeruli (diffuse) show an increase in mesangial, epithelial, endothelial (proliferative), and inflammatory cells (i.e., glomerulonephritis).

Non-Hodgkin Lymphoma: The history is of enlarged reticuloendothelial system with abnormalities in all 3 cell lines of the bone marrow (pallor, fever and petechiae). The most likely diagnosis is therefore acute (lymphoblastic) leukaemia. Lymphadenopathy may be prominent: mediastinal nodes are characteristic of T-cell leukaemia. In lymphoma the marrow involvement tends to be much less.

Erythema nodosum is the most common type of inflammation of the subcutaneous fat tissue, referred to as panniculitis. Erythema nodosum appears as painful, erythematous round lumps, usually symmetrically on the anterior aspect of lower extremities. These lesions are self-limiting and tend to resolve within 2-8 weeks without undergoing necrosis. There are various causes of erythema nodosum, but the most important among children is the streptococcal throat infection. Other causes include autoimmune conditions like sarcoidosis, inflammatory bowel disease, mycobacterial infection (TB), and drugs like penicillin and sulphonamides. Coeliac disease is not linked with the formation of erythema nodosum.

Due to breakdown of the red blood cell membrane in haemophilic patients, cholesterol crystals are formed by the lipids. On the other hand lipofuscin deposition does not occur in haemolysis or haemorrhage. Neutrophil accumulation suggests acute inflammation. Anthracotic pigment is an exogenous carbon pigment that deposits in the lung from dust. Russell bodies are intracellular accumulations of immunoglobins in plasma cells. Curschmann’s spirals and Charcot Leyden crystals are pathognomonic of asthma.

Klinefelter syndrome is a sex chromosome disorder in boys and men that results from the presence of an extra X chromosome in cells. People typically have 46 chromosomes in each cell, two of which are the sex chromosomes. Females have two X chromosomes (46,XX), and males have one X and one Y chromosome (46,XY). Most often, boys and men with Klinefelter syndrome have the usual X and Y chromosomes, plus one extra X chromosome, for a total of 47 chromosomes (47,XXY).Cri-du-chat (cat’s cry) syndrome, also known as 5p- (5p minus) syndrome, is a chromosomal condition that results when a piece of chromosome 5 is missing.Pierre Robin syndrome is not caused by a single gene defect but is a sequence.Meningomyelocele does not follow usual patterns of inheritance.

Scaphoid fractures are regarded as fractures that are difficult to heal, so a classification system is needed taking different factors into account that should lead towards proper guidance to the healing time and management of these fractures. Popular classification criteria are Herbert, Russe, and Mayo classification systems. Herbert’s classification system is based on the fracture’s stability and proposes that all complete bicortical fractures (except for tubercle fractures) are unstable. Salter-Harris classification is used for categorizing epiphyseal fractures, while Delbert classification system is reserved for fractures of the proximal femur in children. Fractures of the ankles are classified using Ottawa rules, and Garland classification is used for supracondylar fractures in children.

Bulimia nervosa is a condition in which a person is involved in binge eating and then purging. This patient has swollen parotid glands. The glands swell in order to increase saliva production so that the saliva lost in the vomiting is compensated. This patient also has thickened calluses on the back of her hand. This is known as Russell’s sign. This occurs because of putting fingers in the mouth again and again to induce the gag reflex and vomit. The knuckles get inflamed in the process after coming in contact with the teeth multiple times.

Angelman syndrome is a rare genetic and neurological disorder caused by deletion or abnormal expression of the UBE3A gene and characterized by severe developmental delay and learning disabilities| absence or near absence of speech| inability to coordinate voluntary movements (ataxia)| tremulousness with jerky movements of the arms and legs and a distinct behavioural pattern characterized by a happy disposition and unprovoked episodes of laughter and smiling. Although those with the syndrome may be unable to speak, many gradually learn to communicate through other means such as gesturing. In addition, children may have enough receptive language ability to understand simple forms of language communication. Additional symptoms may occur including seizures, sleep disorders and feeding difficulties. Some children with Angelman syndrome may have distinctive facial features but most facial features reflect the normal parental traits.

Anorexia nervosa is associated with a decrease in muscle mass, which is one of the primary locations of creatinine metabolism. Due to this, plasma creatinine levels are found to be decreased in patients with anorexia. Other blood chemistry derangements in patients of anorexia nervosa include hypercortisolism, hypoglycaemia, low free T3 levels, and hypercholesterolemia.

Klinefelter’s syndrome is the most common sex chromosome linked disorder with a karyotype of 47XXY. The incidence of the disease is 1 in 500-1000 male births. Childhood presentation consists of unusual growth spurt along with learning difficulties and delayed speech. The adolescence is marked by abnormal sexual maturation leading to hypogonadism and sub-fertility in adulthood.

Among the options provided, an 8-week-old full-term infant with normal developmental milestones will smile in response to appropriate stimuli.Rationale:Smiles in response to appropriate stimuli are seen from around 6 weeks of age. A social smile, where the infant has an awareness that a smile attracts attention, is not observed until around 3 months of age.Other options:- At 6 weeks an infant is able to follow objects in the horizontal plane through 90 deg| fixing and following an object through 180 deg in the horizontal plane is a milestone achieved at 3 months, as is pushing up onto forearms. – Pushing up onto hands occurs by around 5 months.- Infants of 3 months should startle to a 60 dB sound.

Precocious Puberty is the development of secondary sexual characteristics before the age of 8 in females, and 9 in males. The first sign of early puberty in males is testicular enlargement, followed by growth of the penis and the scrotum at least a year after. Precocious puberty in boys in uncommon and usually has an organic cause leading to excess secretion of testosterone. These can be gonadotrophin dependent in the case of an inter cranial lesion, where the testes would be bilaterally enlarged, or from excess production from the adrenal gland in the case of adrenal hyperplasia or a tumour.

Minimal change disease is a type of glomerulonephritis that mostly affects younger children. Proteinuria is present which leads to body oedema. But in these patients blood pressure is normal.

Time and EventWeek 1: ImplantationWeek 2: Formation of bilaminar diskWeek 3: Formation of primitive streakFormation of notochordGastrulationWeek 4: Limb buds begin to formNeural tube closesHeart begins to beatWeek 10: Genitals are differentiated

6 month old babies that go through normal developmental milestones, should enjoy playing with others and especially their parents.The other milestones are expected of a 9-month-old.

Answer: Surveillance annual flexible sigmoidoscopy from age 13 years until age 30 years. Familial adenomatous polyposis (FAP) is the most common adenomatous polyposis syndrome. It is an autosomal dominant inherited disorder characterized by the early onset of hundreds to thousands of adenomatous polyps throughout the colon. If left untreated, all patients with this syndrome will develop colon cancer by age 35-40 years. In addition, an increased risk exists for the development of other malignancies.Most patients with FAP are asymptomatic until they develop cancer. As a result, diagnosing presymptomatic patients is essential.Of patients with FAP, 75%-80% have a family history of polyps and/or colorectal cancer at age 40 years or younger.Nonspecific symptoms, such as unexplained rectal bleeding (haematochezia), diarrhoea, or abdominal pain, in young patients may be suggestive of FAP.In a minority of FAP families a mutation cannot be identified and so annual flexible sigmoidoscopy should be offered to at risk family members from age 13–15 years until age 30, and at three to five year intervals thereafter until age 60 years.

Iron deficiency anaemia has the following laboratory characteristics: low haemoglobin, a low serum iron, a low serum ferritin, a low transferrin saturation, and a high total iron-binding capacity.

Coarctation of the aorta may be defined as a constricted aortic segment that comprises localized medial thickening, with some infolding of the medial and superimposed neointimal tissue.The presence of associated defects and aortic arch anomalies, the extent of patency of the ductus arteriosus, the rapidity of the process of closure of the ductus arteriosus, and the level of pulmonary vascular resistance determine the timing of clinical presentation and the severity of symptoms. Young patients may present in the first few weeks of life with poor feeding, tachypnoea, and lethargy and progress to overt CHF and shock. These patients may have appeared well before hospital discharge, and deterioration coincides with closure of the patent ductus arteriosus. Presentation may be abrupt and acute with ductal closure.Neonates may be found to have tachypnoea, tachycardia, and increased work of breathing and may even be moribund with shock. Keys to the diagnosis include blood pressure (BP) discrepancies between the upper and lower extremities and reduced or absent lower extremity pulses to palpation. However, when the infant is in severe heart failure, all pulses are diminished.The murmur associated with coarctation of the aorta may be nonspecific yet is usually a systolic murmur in the left infraclavicular area and under the left scapula.

The primary intestinal loop is formed from the midgut which gives rise to the distal half of the duodenum, the jejunum, ascending colon, proximal two thirds of the transverse colon and the ileum.

Grommets are small tubes surgically inserted into the tympanic membrane to drain viscous inflammatory fluid found in the middle ear in bilateral otitis media with effusion of more than three months duration. There is no indication against using in ear headphones or flying. Swimming or snorkelling can be reinforced with ear plugs. However immersion of the child’s head in soapy water is to be avoided as the water is more likely to enter the ear.

The normal human pancreas contains about 1,000,000 islets. The islets consist of four distinct cell types, of which three (alpha, beta, and delta cells) produce important hormones| the fourth component (C cells) has no known function.The most common islet cell, the beta cell, produces insulin.The alpha cells of the islets of Langerhans produce an opposing hormone, glucagon.The delta cells produce somatostatin, a strong inhibitor of somatotropin, insulin, and glucagon.

As this boy has experienced significant dry spells in the past, it is unlikely that a structural abnormality is causing the enuresis. The only therapies that have been shown to be effective in randomized trials are alarm therapy and treatment with desmopressin acetate or imipramine. Bladder training exercises are not recommended. Desmopressin acetate is the preferred medication for treating children with enuresis.