75 year old presents to emergency with a 2 day history nausea, vomiting, abdominal pain and diarrhoea. He has not been tolerating oral fluids and is currently confused with a GCS of 14. He has a past…

Overview Autosomal dominant disease characterised by trinucleotide repeat of CTG. Also known as Dystrophica Myotoncia the disease is causes an increase in muscle tone (Myotonia) with associated degeneration…

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…

Overview Systemic sclerosis–associated interstitial lung disease (SSc-ILD) is one of the most common and severe internal organ manifestations of systemic sclerosis (SSc), occurring in up to 50–60% of patients…

Overview Nephritic syndrome is one of two clinical patterns seen in glomerular disease. Nephritic Syndrome is characterised by haematuria, proteinuria, hypertension and oligouria. Nephritic syndrome can…

Overview Glomerulonephritis is inflammation of the glomerulus.  Glomerulonephritis is classified by clinical syndrome/presentation (e.g. nephritic or nephrotic syndrome), histological appearance , or…

Overview  The spondyloarthropathies are a diverse group of inflammatory arthritides that share certain genetic predisposing factors and clinical features. Their most characteristic feature is inflammatory…

Overview Umbilical hernias are one of the most common surgical conditions in infants and children. In infantile umbilical hernia there is a pathological failure of obliteration of umbilical defect. Umbilical…

Overview Birth defects are the leading cause of perinatal and post- neonatal deaths, and result in substantial morbidity and disability in developed countries. There is a wide variety of mechanisms…