Medical science, drawn into focus.

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.…

Community Acquired Pneumonia

Overview Community acquired pneumonia occur in individuals who are not in hospital (or have been in hospital in the past 48 hours) and who are not significantly immunocompromised. The World Health Organization estimates that lower respiratory tract infection is the most common infectious cause of death in the world. Choice of antibiotics are usually empirical…

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:…

Basic Calcium Phosphate Disease / Milwaukee Shoulder Syndrome

Overview Basic Calcium Phosphate (BCP) disease is a crystal-associated arthropathy characterized by deposition of BCP crystals in periarticular and intra-articular tissues. A severe clinical presentation of BCP disease is Milwaukee Shoulder Syndrome, which typically affects elderly women, leading to rapid joint destruction, massive rotator cuff tears, and non-inflammatory joint effusion. It often involves the shoulder,…

Complex Regional Pain Syndrome (CRPS) 

Overview CRPS is a disproportionate, regional pain syndrome of a limb that typically follows injury or surgery and features sensory, vasomotor, sudomotor/oedema, and motor/trophic changes. The prevalence after limb fracture/surgery varies widely (≈1–7% overall, higher in some distal radius cohorts) and early recognition with rehabilitation improves outcome. Important risk factors include fracture (especially wrist/ankle), immobilisation,…

Umbilical and Epigastric Hernia

Overview Umbilical and Epigastric hernias are types of Primary Ventral abdominal wall hernias. Epigastric hernias are two to three times more common in men.  Umbilical hernias are three times more likely in females. Most epigastric hernias contain preperitoneal fat, while most umbilical hernias contain omentum or bowel. These hernias are usually asymptomatic unless incarcerated, obstructed…

Gastroenteritis (Infectious Diarrhoea)

Overview Gastroenteritis continues to cause significant morbidity in developed and developing countries. The most common cause are viral and bacterial including: Norovirus Enteric adenoviruses E-coli Salmonella spp. and Shigella spp. Campylobater jejuni Diarrhoea:  Loose, water like stools that occur with increased frequency and an increased volume of >200g per day Gastroenteritis:  >3 or more loose…

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