Medical science, drawn into focus.

Chronic Upper Limb Ischaemia 

Overview Chronic upper limb ischaemia is a form of peripheral arterial disease that results in a symptomatic reduced blood supply to the upper limb. The common symptoms are weakness, cramps, pain, and digital ischaemia/gangrene. Upper limb ischaemia occurs less frequently than lower limb ischaemia.  Peripheral artery disease (PAD) is a chronic obstruction of arteries supplying…

Percarditis

Overview Pericarditis is the most common form of pericardial disease and a relatively common cause of chest pain. The etiology of pericarditis may be infectious (eg, viral and bacterial) or noninfectious (eg, systemic inflammatory diseases, cancer, and post-cardiac injury syndromes). Tuberculosis is a major cause of pericarditis in developing countries but accounts for less than 5%…

Marfans Syndrome

Overview Marfan's Syndrome is one of the most common inherited disorders of connective tissue. Marfan syndrome is a hereditary disease affecting connective tissues in the body, resulting in symptoms such as aortic dissection and musculoskeletal deformities. However, no family history of Marfan's does not exclude the diagnosis as 30% can occur through gene mutation. Marfan syndrome:…

Gestational Diabetes

Overview Diabetes:  A group of metabolic diseases in which there are high blood sugar levels over a prolonged period.   Two types Diabetes Mellitus Type I (autoimmune destruction of beta cells in the pancreas) and Type II (insulin resistance followed by beta cell atrohpy) Gestational Diabetes:  diabetes diagnosed during the second half of pregnancy with…

Leukocyte Adhesion Deficiency

Overview Leukocyte adhesion deficiency (LAD) is a rare primary immunodeficiency characterised by recurrent bacterial and fungal infections, impaired wound healing, and absence of pus formation due to defective leukocyte adhesion and migration. It results from genetic defects in leukocyte integrins or signalling pathways, preventing neutrophil extravasation from blood vessels into tissues. LAD has an estimated…

DiGeorge Syndrome

Overview DiGeorge syndrome (22q11.2 deletion syndrome) is a congenital immunodeficiency and multisystem disorder caused by a microdeletion on chromosome 22. It leads to defective development of the third and fourth pharyngeal pouches, resulting in thymic hypoplasia/aplasia, hypocalcaemia due to parathyroid hypoplasia, and congenital heart defects. Prevalence is estimated at 1 in 4000 live births. Clinical…

Pulmonary Embolism

Overview Pulmonary embolism occurs most often from a dislodged thrombus from the lower limb (DVT). The embolus travels towards the lung and becomes lodged in the pulmonary artery resulting in infarction of the lung tissue. Pulmonary Embolism: Deep Vein Thrombosis (DVT): Blood clot in the deep venous system that usually affects the lower extremities or…

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