Medical science, drawn into focus.

Common Variable Immunodeficiency

Overview Common Variable Immunodeficiency (CVID) is the most frequent clinically significant primary antibody deficiency, characterised by hypogammaglobulinaemia and impaired antibody responses. It typically presents with recurrent bacterial infections, autoimmunity, granulomatous disease, and an increased risk of malignancy. CVID affects both sexes equally, with a prevalence of ~1 in 25,000–50,000 individuals. Diagnosis is often delayed, with…

Wiskott–Aldrich Syndrome 

Overview Wiskott–Aldrich syndrome is a rare X-linked recessive primary immunodeficiency caused by mutations in the WAS gene, leading to defective actin cytoskeleton regulation in hematopoietic cells. It presents with the triad of eczema, recurrent infections, and thrombocytopenia with small platelets. Patients are prone to autoimmunity and malignancy. Incidence is ~1 in 100,000 live male births.…

Stroke (Ischaemic and Haemorrhagic)

Overview Third most common cause of death worldwide and most common cause of neurological disability. It is subdivided into ischaemic stroke (caused by vascular occlusion or stenosis) and haemorrhagic stroke (caused by vascular rupture, resulting in intra-parenchymal and/or subarachnoid haemorrhage). Stroke: Acute onset of a focal neurologic deficit due to a cerebral infarction or hemorrhage. Transient Ischaemic…

Rheumatoid Arthritis-Associated Interstitial Lung Disease (RA-ILD)

Overview Rheumatoid arthritis-associated interstitial lung disease (RA-ILD) is a serious extra-articular manifestation of RA, affecting up to 10% of RA patients clinically, though subclinical involvement may be present in up to 60% on HRCT. It typically presents in the 5th–6th decade, with a male predominance and is a leading cause of RA-related mortality. The most…

Developmental Hip Dysplasia

Overview Developmental Dyplasia of the hip (DDH) is previously known as congenital dislocation of the hip  (however name changed as some of the hip problems develop after birth). Spectrum of condition related to development of the hip in infants and young children. Includes abnormal development of the acetabulum and proximal femur + mechanical instability of the hip joint. Usually involves…

Alzheimer's Disease

Overview Alzheimer disease is characterised by an insidious onset of symptoms with initial forgetfulness progressing over time to profound memory impairment with accompanying dysphasia, dyspraxia and personality change. Dementia: Clinical syndrome that is characterised by a progressive deterioration in cognition with resulting decline in function. Alzheimer disease:  Characterised by an insidious onset of symptoms with initial…

Obesity

Overview Overweight and obesity are common worldwide and are associated with many conditions, particularly diabetes, hypertension and dyslipidemia. Overweight and obesity are defined as a moral or excessive fat accusation that presents a risk to health Obesity is now dramatically on the rise in low and middle-income countries. Management should include diet, physical activity, and…

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