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.

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.

The thymus is a lymphoid organ located in the anterior mediastinum. In early life, the thymus is responsible for the development and maturation of cell-mediated immunologic functions. The thymus is composed predominantly of epithelial cells and lymphocytes. Precursor cells migrate to the thymus and differentiate into lymphocytes. Most of these lymphocytes are destroyed, with the remainder of these cells migrating to tissues to become T cells.DiGeorge’s syndrome (DGS) is a developmental abnormality affecting the thymus. The classic triad of features of DGS on presentation is conotruncal cardiac anomalies, hypoplastic thymus, and hypocalcaemia (resulting from parathyroid hypoplasia).

Klinefelter’s syndrome: The low follicle-stimulating hormone (FSH) and luteinising hormone (LH), together with the low testosterone, suggests a hypogonadotropic hypogonadism. We know that there is no mental retardation, and we are told that physical examination is normal and sense of smell would usually not be tested. Consequently a diagnosis of Kallman’s is suggested. We are not told of a family history of growth delay, thus this is unlikely to be constitutional delay. The thyroid-stimulating hormone (TSH) is normal, making hypothyroidism unlikely and this together with the normal prolactin make hypopituitarism most unlikely.

Congenital adrenal hyperplasia is a common cause of virilisation in females that can present as ambiguous genitalia at birth. Deficiency of the 21-alphahydroxylase enzyme is implicated in excess mineralocorticoid and androgens produced by the adrenal gland. Virilisation occurs when excess androgens are converted to testosterone in a genetically female foetus, causing the genitalia to resemble male genitalia. A deficiency of 5-alpha hydroxylase would rather decrease the production of testosterone and lead to the presentation of external female genitalia in a genetically male foetus. Autoantibodies against glutamic acid are seen in type 1 diabetes mellitus, while defects in the AIRE gene and the FOXP3 affect components of the immune system.

Answer: Surgery over the next few daysInguinal hernia is a type of ventral hernia that occurs when an intra-abdominal structure, such as bowel or omentum, protrudes through a defect in the abdominal wall. Inguinal hernias do not spontaneously heal and must be surgically repaired because of the ever-present risk of incarceration. Generally, a surgical consultation should be made at the time of diagnosis, and repair (on an elective basis) should be performed very soon after the diagnosis is confirmed.The infant or child with an inguinal hernia generally presents with an obvious bulge at the internal or external ring or within the scrotum. The parents typically provide the history of a visible swelling or bulge, commonly intermittent, in the inguinoscrotal region in boys and inguinolabial region in girls. The swelling may or may not be associated with any pain or discomfort.

The Glasgow Coma Scale, being inappropriate for use in children (especially below the age of 5) as they are unable to elicit the verbal response as per the adult GCS. Therefore, GCS for the paediatric age group was modified to Adelaide coma scale (ACS), which is stated as follows:Best Eye Response (as in adult scale):Spontaneous – 4To speech – 3To pain – 2No response – 1Best Verbal Response:Oriented – 5Words – 4Vocal sounds – 3Cries – 2No response – 1Best Motor Response (as in adult scale):Obeys commands – 5Localises pain – 4Flexion to pain – 3 Extension to pain – 2No response – 1 The described child scores:Eye response – 1; Verbal response – 3; Motor response – 4Thus, bringing the total ACS score to 8.

The antiretroviral agent for the side effects mentioned is most probably, efavirenz.Efavirenz is a non-nucleoside reverse transcriptase inhibitor and the most likely cause of new-onset psychiatric symptoms in someone taking HAART. In this scenario the patient had no pre-existing mental health problems, as other antiretrovirals can cause depression and suicidal ideation in those who have a past psychiatric history. Symptoms usually subside after a few weeks of treatment.Other options:- Emtricitabine is a nucleoside reverse transcriptase inhibitor and is also not known to cause psychiatric side effects. The most common side effects of Emtricitabine are rash and darkening of the palms or soles.- Lamivudine is a nucleoside reverse transcriptase inhibitor, which can cause insomnia, but does not commonly cause other psychiatric symptoms.- Rilpivirine is a non-nucleoside reverse transcriptase inhibitor, which can cause depression. However, this is more common in those with a history of mental health problems.- Tenofovir is a nucleotide reverse transcriptase inhibitor. The most common side effect of Tenofovir is gastrointestinal upset. It is not known to cause psychiatric side effects.

Breast feeding should be continued for babies with breast milk jaundice as this is a benign condition.

6 month old milestones:Social and Emotional:Knows familiar faces and begins to know if someone is a stranger Likes to play with others, especially parents Responds to other people’s emotions and often seems happy Likes to look at self in a mirror Language/Communication:Responds to sounds by making sounds Strings vowels together when babbling (ah,ť eh,ť ohť) and likes taking turns with parent while making sounds Responds to own name Makes sounds to show joy and displeasure Begins to say consonant sounds (jabbering with m,ť bť) Cognitive (learning, thinking, problem-solving):Looks around at things nearby Brings things to mouth Shows curiosity about things and tries to get things that are out of reach Begins to pass things from one hand to the other Movement/Physical Development:Rolls over in both directions (front to back, back to front) Begins to sit without support When standing, supports weight on legs and might bounce Rocks back and forth, sometimes crawling backwards before moving forward

The most common physiological factors that influence renin secretion include renal perfusion pressure, renal sympathetic nerve activity, and tubular sodium chloride load.The perfusion pressure in the renal artery is the most profound parameter to influence renin secretion; when the renal perfusion pressure falls (i.e. hypovolaemia), renin secretion rises, and vice versa.

Tuner’s syndrome is not associated with arachnodactyly.Arachnodactyly is seen in the following conditions:- Marfan syndrome- Homocystinuria- Ehlers-Danlos syndrome- Congenital contractural arachnodactylyOther rare syndromes include:- Loeys-Dietz syndrome- Antley-Bixler syndrome- Marden-Walker syndrome- Lujan-Frinz syndrome- Haim-Munk syndrome- Marden-Walker syndrome- Spondylocostal dysostosis

Leiner disease belongs to a heterogeneous group of disorders associated with permanent or temporary complement C5 plasma deficiency. It is a rare disease that follows an autosomal recessive pattern of transmission. It is prevalent in female, breast-fed babies. The hallmark of this syndrome is severe diarrhoea, severe generalized seborrheic dermatitis, central nervous system defects, marked wasting, recurrent local and systemic infections, and failure to thrive.

Bone marrow failure syndromes are characterized by the bone marrow’s inability to produce cells of different lineage. They can be classified as those affecting one or two cell lineages or those affecting all three of them. Fanconi syndrome, along with dyskeratosis congenita, is one of the inherited bone marrow failure syndromes that causes pancytopenia. Other inherited disorders affecting hematopoietic lineage include Diamond-Blackfan anaemia, Schwachman-Diamond syndrome, congenital amegakaryocytic thrombocytopenia (CAMT) and Thrombocytopenia absent radii (TAR) syndrome. Acquired causes of bone marrow failure that lead to pancytopenia include aplastic anaemia, drugs, nutritional deficiencies, and viral infections. Kostmann syndrome is an autosomal recessive form of severe neutropenia, most likely due to excessive neutrophil apoptosis.

Hypercalcemia refers to increased serum calcium levels and is characterized by a number of significant constellations, including polyuria, muscle weakness, abdominal pain, fatigue, and cardiac arrhythmias. The causes of hypercalcemia can be classified as PTH-dependant causes and PTH-independent causes. The causes can be both congenital and acquired. The most common cause of PTH-dependent hypercalcemia is the primary or tertiary hyperparathyroidism, resulting from parathyroid gland tumours. Hyperparathyroidism is also associated with chronic renal failure. PTH-independent hypercalcemia is caused by William’s syndrome, hypervitaminosis (vitamin A and D intoxication), endocrinopathies (hyperthyroidism), various drugs (thiazide diuretics), and some inborn errors of metabolism. One of the congenital causes of PTH-independent hypercalcemia is idiopathic infantile hypercalcemia.

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.

Metformin works by improving the sensitivity of peripheral tissues to insulin, which results in a reduction of circulating insulin levels. Metformin inhibits hepatic gluconeogenesis and it also increases the glucose uptake by peripheral tissues and reduces fatty acid oxidation. Metformin has a positive effect on the endothelium and adipose tissue independent of its action on insulin and glucose levels.Metformin was the first insulin sensitising drug (ISD) to be used in PCOS to investigate the role of insulin resistance in the pathogenesis of the syndrome Several effects have been reported as related to metformin in PCOS patients including restoring ovulation, reducing weight, reducing circulating androgen levels, reducing the risk of miscarriage and reducing the risk of gestational diabetes mellitus (GDM). Other studies have reported that the addition of metformin to the ovarian stimulation regime in invitro fertilization (IVF) improves the pregnancy outcome. These effects will be addressed individually.

When topical agents are insufficient or not tolerated, or in cases of moderate to severe acne, especially when the chest, back and shoulders are involved, systemic antibiotics are often considered the next line of treatmentSystemic antibiotics should not be used to treat mild acne because of the risk of increasing resistance. The additional use of nonantibiotic topical agents in combination with oral antibiotics should be considered. Topical retinoids with oral antibiotics may give a faster response and be more effective than either drug used alone.Treatment with tetracyclines and erythromycin reduces P. acnes within the follicles, thereby inhibiting the production of bacterial-induced inflammatory cytokines. These agents also have inherent anti-inflammatory effects, such as suppressing leukocyte chemotaxis and bacterial lipase activity.

Septic (infectious) arthritis is a bacterial infection of the joint space. Contamination occurs either via the bloodstream, iatrogenically, or by local extension (e.g., penetrating trauma). Patients with damaged (e.g., patients with rheumatoid arthritis) or prosthetic joints have an increased risk. Patients usually present with an acutely swollen, painful joint, limited range of motion, and a fever. Suspected infectious arthritis requires prompt arthrocentesis for diagnosis. In addition to the immediate broad-spectrum antibiotic therapy, surgical drainage and debridement may be necessary to prevent cartilage destruction and sepsis.

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.

Meckel’s diverticulum is a congenital diverticulum of the small intestine. It is a remnant of the omphalomesenteric duct (also called the vitellointestinal duct) and contains ectopic ileal, gastric or pancreatic mucosa.Rule of 2’s- occurs in 2% of the population- it is located 2 feet proximal to the ileocaecal valve- it is 2 inches long- it is 2 times more common in men- there are 2 tissue types involvedIt is typically asymptomatic. Symptomatic presentation indicates inflammation of the diverticulum. The symptoms include:- Abdominal pain mimicking appendicitis- Rectal bleeding- Intestinal obstruction: secondary to an omphalomesenteric band (most commonly), volvulus and intussusceptionManagement:Surgical removal if the neck of the diverticulum is narrow or symptomatic. Surgical options are excision or formal small bowel resection and anastomosis.

The main result of a correlation is called the correlation coefficient (or r). It ranges from -1.0 to +1.0. The closer r is to +1 or -1, the more closely the two variables are related.If r is close to 0, it means there is no relationship between the variables. If r is positive, it means that as one variable gets larger the other gets larger. If r is negative it means that as one gets larger, the other gets smaller (often called an inverse correlation).

The combination of cholestasis, congenital heart disease (mainly affecting the pulmonary vasculature) and anterior-segment abnormalities (primarily posterior embryotoxon) suggests a diagnosis of Alagille syndrome. Clinical features:The facial features are characteristic and include a prominent forehead, deep-set eyes and a pointed chin. The most common skeletal manifestation is butterfly vertebrae, a clefting abnormality of the vertebrae most often seen in the thoracic spine and described in up to 87% of cases. Radio-ulnar synostosis and short phalanges have also been described in Alagille but less frequently. Note: Pectus excavatum is a feature of Noonan syndrome, one of the differential diagnoses of pulmonary valve disease.

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.

Graves disease is an autoimmune disorder in which patients present with thyrotoxicosis and related ophthalmopathy, and dermopathy. Many affected patients experience hyperthyroidism. Peak incidence of graves disease is after the 3rd decade of life and is more common in women than in men. Graves susceptibility is association with HLA-DR3. Clinical features of Graves disease include an increased metabolic rate, heat intolerance, irritability, weight loss despite increasing appetite, diarrhoea palpitations, chemosis, acropachy and onycholysis.

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 most probable diagnosis based on the scenario provided above is hereditary spherocytosis.While jaundice and abdominal pain might make you think of hepatitis or cholecystitis in the first instance, the lack of fever suggests otherwise. The apyrexial presentation is against acute cholecystitis, and the past medical history reveals a chronic type of fatigue and two previous episodes of hepatitis. Furthermore, it is unlikely that the child has contracted infective hepatitis twice and now a third time! The most common cause of hepatitis in childhood is hepatitis A, however the lack of travel history to endemic areas makes this less likely. Hepatitis A is usually a mild, self-limiting disease that never presents with chronic symptoms. The chronicity of his fatigue and the blood results lead towards a haematological diagnosis. This is further substantiated by his low haemoglobin levels, high MCV and high reticulocyte count. Chronic haemolytic anaemia is the most likely cause, and the negative Coombs excludes autoimmune haemolytic anaemia (AIHA). Thus, leaving us with the answer as hereditary spherocytosis.Hereditary spherocytosis is a disorder that makes the cytoskeleton of red cells more fragile and therefore leads to red cell death and splenomegaly. Gallstones are a result of this red cell destruction and increased haem metabolism.

Live attenuated vaccines such as the MMR, should be avoided in HIV+ patients.

Celiac disease is classified as a Type IV hypersensitivity mediated by T-cell response. Negatively charged gliadin has been shown to induce interleukin 15 in the enteric epithelial cells, stimulating the proliferation of the natural killer cells and intraepithelial lymphocytes to express NK-G2D, a marker for natural killer T lymphocytes.

Factors V and VIII are consumed most rapidly in a patient with disseminated intravascular coagulation.Simultaneous coagulation and haemorrhage caused by initially formation of thrombi which consume clotting factors (factors 5,8) and platelets, ultimately leading to bleeding.Causes include:- Infection- Malignancy- Trauma e.g. major surgery, burns, shock, dissecting aortic aneurysm- Liver disease- Obstetric complicationsClinically bleeding is usually a dominant feature, bruising, ischaemia and organ failure.Blood tests reveal prolonged clotting times, thrombocytopenia, decreased fibrinogen and increased fibrinogen degradation products.Treatment of DIC involves treating the underlying cause and supportive management.Mnemonic:D-I-S-S-E-M-I-N-A-T-E-DD- D dimerI-Immune complexesS-Snakebite, shock, heatstrokeS-SLEE-Eclampsia, HELLP syndromeM-Massive tissue damageI-Infections: viral and bacterialN-NeoplasmsA-Acute promyelocytic leukaemiaT-Tumour products: Tissue Factor (TF) and TF-like factors released by carcinomas of pancreas, prostate, lung,colon, stomachE-Endotoxins (bacterial)D-Dead foetus (retained)