Patients with HIV have a deficiency of CD4 lymphocytes which are also known as helper T cells (Th). They are involved with antigen-specific responses as well as delayed-type hypersensitivity. The risk of developing P. jiroveci pneumonia is greatest with a CD4 count of 200 x 109/l or below.

The diagnosis of a post-splenectomy/hyposplenism blood picture can be made reliably by identifying Howell Jolly bodies in routine Wright-Giemsa stained blood and target cells. These are round basophilic bodies in red blood cells that represent residual nuclear material from marrow nucleated red cell precursors that are usually culled out by the spleen.These do not occur in individuals with normally functioning splenic tissue and their presence indicates either 1) an asplenic state or 2) hypofunctioning splenic tissue as might be seen in a patient with late-stage sickle cell anaemia. Their presence in an individual with splenomegaly leads to a narrow differential diagnosis and their absence in a splenectomised individual indicates accessory splenic Heinz bodies and poikilocytosis typically increase in a splenectomised individual and care must be taken not to overdiagnose haemolysis in such an individual.

In the case of anterior nasal bleeds, when the bleeding point is clearly visualised the best management step is cautery, either electrical or chemical.

Blalock-Thomas-Taussig shunt is a surgical procedure done to increase pulmonary blood flow in cases like pulmonary atresia and results in a continuous murmur.The type of murmur which is heard during the systole and remains continuous till the second heart sound is known as a continuous murmur. This murmur is often intense and considered rough. It can also be accompanied by quivering. There are numerous causes of a continuous murmur that differ depending on the location and components of this murmur. It is caused by the shunting of blood from a high-pressure circulation to a low-pressure circulation. Pathological causes of a continuous murmur include patent ductus arteriosus, aortopulmonary window, AV malformation, coarctation of aorta, any acquired trauma, and iatrogenic cause like interventional or surgical procedures.

In case control studies, observational studies are made to compare two groups, individuals with a certain condition, to those without the condition, with all other factors being equal. In the situation presented by the question, the study was to determine whether a prior risk factor, a low birth weight, was associated with later developing adolescent hypertension, using a paired t-test to statistically determine whether there was indeed a significant association between the two conditions. Case control studies only help to draw associations between two groups and therefore cannot indicate causation. In this scenario we are also not given the p value to determine whether the association is statistically significant. Therefore there is not enough evidence to conclude whether or not birthweight affects the development of adolescent hypertension.

Hypertrophic villi is a response to chronic irritation by allergic reactions

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

Hyperthyroidism is the least likely cause of cataract development as all of the other mentioned options can lead to eye problems. Asthma and crohn’s can lead to steroid induced cataract formation, while trauma to the eye can cause traumatic cataracts to develop afterwards. JIA often leads to uveitis.

Based on the clinical scenario, the most likely nerve injured in this case is the ulnar nerve.Ulnar Nerve:It arises from the medial cord of brachial plexus (C8, T1).It supplies motor fibres to the following structures:- Medial two lumbricals- Adductor pollicis- Interossei- Hypothenar muscles: abductor digiti minimi, flexor digiti minimiflexor carpi ulnarisIt carries sensation from the palmar and dorsal aspects of the medial 1 1/2 fingers.Patterns of damageIf the nerve is damaged at the wrist, the following features are observed:- Claw hand’: Hyperextension of the metacarpophalangeal joints and flexion at the distal and proximal interphalangeal joints of the 4th and 5th digits.- Wasting and paralysis of intrinsic hand muscles (except lateral two lumbricals)- Wasting and paralysis of hypothenar muscles- A sensory loss in the medial 1 1/2 fingers (palmar and dorsal aspects)If the nerve is damaged at the elbow or above the ulnar paradox is observed – the fourth and fifth fingers are simply paralyzed and claw hand is less severe.

Answer: Inflammatory bowel diseaseThe inflammatory bowel diseases (IBDs), including ulcerative colitis and Crohn disease, are chronic inflammatory disorders of the gastrointestinal tract most often diagnosed in adolescence and young adulthood, with a rising incidence in paediatric populations. Inflammatory bowel disease is caused by a dysregulated mucosal immune response to the intestinal microflora in genetically predisposed hosts. Although children can present with the classic symptoms of weight loss, abdominal pain, and bloody diarrhoea, many present with nonclassical symptoms of isolated poor growth, anaemia, or other extraintestinal manifestations.Colorectal Carcinoma (CRC) is rare in patients less than 20 years of age.

Chédiak–Higashi syndrome is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Scarlet fever is a childhood infectious disease caused by group A Streptococcus. It produces a papular rash, which is classically described as a sand-paper rash. The rash initially appears on the trunk, groin, and underarms and then spreads to extremities, usually sparing the palms and soles. Circumoral area is also spared, giving it pallor-like appearance. Diseases like erythema multiforme, contact dermatitis, staphylococcal scalded skin syndrome, and rubella produce a rash that classically affects the palms and soles.

Based on the clinical scenario, the most likely risk factor in this child to develop gallstones is sickle cell disease.Note:Haemolysis is the most frequent cause for gallstones in children and the likeliest cause because of his ethnicity would be sickle cell disease. The gallstones are pigmented which form from bilirubin. 70% of patients with sickle cell disease will develop gallstones| the prevalence of gallstones is related to the rate of haemolysis.Other options:- Gilbert’s syndrome: it is a common condition in which bilirubin glucuronidation (i.e. converting bilirubin into a water-soluble form) is affected. During times of stress (viral illness, fasting, etc.) there is an excess bilirubin production, and jaundice may develop. It is a benign condition but there is some evidence of an increased risk of developing gallstones. However, sickle cell disease is a more likely risk factor in this case.- Hereditary spherocytosis: Hereditary spherocytosis is a disease of the white population and is less likely to be the underlying cause in this case.- Male gender: After puberty, the incidence of gallstones is higher in women. Before puberty, the incidence is equal.- Obesity: Obesity is a risk factor for gallstones and is thought to be behind the rising incidence among young adults. Nevertheless, haemolytic states remain the most common reason for gallstones in children.

Absence seizures are induced by over breathing or hyperventilation, while the other features suggest partial seizures.

A Mongolian spot can be present in new born babies which usually appears over the back and fades with time. There is nothing to worry about.

The clinical presentation of lichen planus has several variations, as follows:- Hypertrophic lichen planus- Atrophic lichen planus- Erosive/ulcerative lichen planus- Follicular lichen planus (lichen planopilaris)- Annular lichen planus- Linear lichen planus- Vesicular and bullous lichen planus- Actinic lichen planus- Lichen planus pigmentosus- Lichen planus pemphigoides

This temperature is considered to be a mild fever and is most often caused by a minor infection in children of this age. Therefore, an infection screen should be conducted and an IV antibiotic.

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.

Although WPW syndrome is a type of supraventricular re-entrant tachycardia, CCBs are contraindicated in its management. This is because CCBs depress AVN conduction| the current then passes through the accessory pathway (bundle of Kent) instead, causing ventricular tachycardia.

According to the Rumack-Matthew Normogram, accurate levels of paracetamol can be measured only between 4-15 hours. The levels measured before 4 hours post-ingestion would highly underestimate the level of paracetamol ingested.The patient in question presents 2 hours after ingestion. Hence the most appropriate time to measure the levels of acetaminophen would be a further 2 hours later. Other options:- Note that the treatment with NAC can be delayed until the 4-hour level is obtained and compared to the nomogram.- Furthermore, haemodialysis is only indicated if she develops hepato-renal syndrome that is likely to occur 72-96 hours post-ingestion.- Indications for acute liver transplantation include persistent acidosis, hepatorenal syndrome and worsening coagulopathy.

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.

The main cause of growth hormone (GH) deficiency is a pituitary tumour or the consequences of treatment of the tumour including surgery and/or radiation therapy.Sheehan’s syndrome (SS) is postpartum hypopituitarism caused by necrosis of the pituitary gland. It is usually the result of severe hypotension or shock caused by massive haemorrhage during or after delivery. Patients with SS have varying degrees of anterior pituitary hormone deficiency.Laron syndrome is Insulin-like growth factor I (IGF-I) deficiency due to GH resistance or insensitivity due to genetic disorders of the GH receptor causing GH receptor deficiency.

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.

Infections of the superficial skin around the eyes are called periorbital, or preseptal, cellulitis. It is predominantly a paediatric disease. Erysipelas is a bacterial skin infection involving the upper dermis which extends into the superficial cutaneous lymphatics. Sinusitis is in sinuses. Orbital infections and conjunctivitis are within the eye.

In pyloric stenosis a new-born baby presents with a history of vomiting, constipation and deranged electrolytes. Excessive vomiting leads to hypokalaemia. Difficulty in food passing from the stomach to the small intestine causes constipation. Hypokalaemia also causes constipation. None of the other disorders mentioned present with the hypokalaemia, vomiting and constipation triad in a new-born.

The baby most probably has dystrophic epidermolysis bullosa, a primarily autosomal dominant disorder associated with keratin 5 and 14 defects. Initial management consists of supportive measures such as protecting the skin.

The combination of frequent infections, eczema, and thrombocytopaenia are characteristic of Wiskott-Aldrich syndrome, which is due to an abnormality in the WASP gene. It is an X-linked recessive disorder that causes primary immunodeficiency owing to a combined B- and T-cell dysfunction.The other listed options are:1. PKD1: polycystic kidney disease2. CFTR: cystic fibrosis3. HFE1: haemochromatosis4. RET: multiple endocrine neoplasia, Hirschsprung’s disease

Projectile vomiting is the hallmark symptom of hypertrophic pyloric stenosis. It is the most common cause of intestinal obstruction in infancy, which has a male-to-female predominance of 4-5:1. Current management recommendations include ultrasonography for diagnosis, correction of electrolytes, and surgical intervention.

Arterial blood gas is useful for the evaluation of oxygen and carbon dioxide gas exchange, respiratory function including hypoxia, and acid/base balance. This will quickly indicate if assisted ventilation is required for this patient.

HLA-DR (3 and 4) have been associated with an increased risk for idiopathic diabetes mellitus.Type 1 diabetes has a high heritability compared to type 2Identical twins have a 30-50% risk if their twin has type 1 diabetes