Medical science, drawn into focus.

Selective IgA Deficiency 

Overview Selective IgA deficiency is the most common primary immunodeficiency, defined by very low or absent serum IgA levels with normal levels of other immunoglobulins (IgG, IgM). Many patients are asymptomatic, but some develop recurrent mucosal infections, allergic disease, or autoimmune disorders. Prevalence is estimated at 1:300 to 1:700 in Caucasian populations. Diagnosis is often…

Gastric Antral Vascular Ectasia (GAVE)

Overview Gastric antral vascular ectasia (GAVE, “watermelon stomach”) is a rare but important cause of non-variceal upper gastrointestinal bleeding, often presenting with chronic iron-deficiency anaemia or recurrent overt bleeding in older adults, particularly women [1–4]. It is frequently associated with systemic conditions such as liver cirrhosis (~30% of cases) and autoimmune/connective-tissue disease (especially systemic sclerosis).…

Crystal Arthropathy

Overview Crystal arthropathies are a diverse group of disorders characterized by deposition of various minerals in joints and soft tissues leading to inflammation. Four main types of crystal arthropathies: Gout : The most common of all the crystal arthropathies, caused by monosodium urate crystal precipitation, and its prevalence appears to be increasing. Pseudogout: caused by calcium…

Multiple Sclerosis

"Each patient ought to feel somewhat the better after the physician's visit irrespective of the nature of the illness." -Warfield Theobald Longcope Overview Multiple sclerosis (MS) is defined as an inflammatory demyelinating disease characterised by the presence of episodic neurological dysfunction in at least 2 areas of the CNS (brain, spinal cord, and optic nerves)…

Sickle Cell Anaemia

Overview Sickle cell anaemia is an autosomal recessive disorder causing production of abnormal ß-globin chains. A single amino acid is substituted in the ß-globin chain (Glu to Val at position 6). This results in the production of HbS (haemoglobin Sickle) rather than HbA. The common variants of sickle cell disease are: Sickle cell anaemia (SS…

Endometriosis

A healthy 25-year-old woman presents with worsening dysmenorrhea, pain of recent onset in the left lower quadrant, and dyspareunia. She has regular menstrual cycles, and her last menstrual period was 3 weeks before presentation. She has been trying to fall pregnant over the past 10 months without success and she is becoming more concerned. Overview…

Diabetes Insipidus

56 year old lady recurrent presentations to your practice for polyuria and increased thirst. Random serum glucose and urinary glucose have returned normal. Patient has otherwise been well, complains of no dysuria, haematuria, fevers or night sweats . Overview Diabetes Insipidus (DI) is associated with inadequate arginine vasopressin (known as antidiuretic hormone) secretion or renal…

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