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X-linked Agammaglobulinaemia (XLA / Bruton’s Disease)

Overview X-linked agammaglobulinaemia (XLA) is a rare primary immunodeficiency caused by mutations in the Bruton’s tyrosine kinase (BTK) gene , leading to failure of B-cell maturation. It results in profound hypogammaglobulinaemia and susceptibility to recurrent bacterial infections, particularly with encapsulated organisms. It usually presents after 6 months of age (once maternal IgG wanes). Prevalence is…

Aortic Stenosis

Overview Aortic valve stenosis is characterised by obstruction of left ventricular outflow, resulting in inadequate cardiac output, decreased exercise capacity, heart failure, and death from cardiovascular causes. Mild to moderate aortic stenosis is usually a symptomatic, but occasionally can be found on routine examination Locations of stenosis – Valvular (common), supravalvular and subvalvular Aortic Stenosis…

Urinary Tract Infection

Overview Infection of the urinary tract is common and more so in women (due to shorter urethra and hormonal changes). UTIs may be classified as either a lower (Cystitis, urethritis and Prostatitis) or upper UTI (pyelonephritis). The main causative agents are bacteria such as E-coli. A lower UTI can progress to an upper UTI causing systemic symptoms…

Urinary Tract Infection (Children)

Overview Urinary Tract infections (UTIs) in children are common and usually carry low risk. UTIs are often non-specific and can not be diagnosed on symptoms alone. A clean specimen (urine) is required for the diagnosis of UTI. Any child who is unwell, and most children under 6 months, should be admitted for IV antibiotics. The…

Polymyalgia Rheumatica (PMR)

Overview Polymyalgia rheumatica is a common inflammatory condition affecting older adults, typically over 50 years of age, characterised by pain and stiffness in the shoulder and pelvic girdles. It is strongly associated with elevated inflammatory markers and responds dramatically to low-dose corticosteroids. PMR is a clinical diagnosis and can mimic other rheumatic or non-rheumatic disorders.…

Bronchiolitis

Overview Bronchiolitis is often a viral cause mainly Respiratory Syncytial Virus (RSV). Bronchiolitis is the most common respiratory tract infection of neonates and is usually self-limiting. A major source of confusion of treatment is differentiating a viral bronchiolitis to asthma. In summary bronchiolitis is usually seen in infants <2yo. Asthma is seen in older children. Bronchiolitis…

Acute Respiratory Distress Syndrome

Overview ARDS is an acute, diffuse, inflammatory lung injury that leads to increased pulmonary vascular permeability, increased lung weight, and a loss of aerated tissue. Clinical hallmarks of ARDS are hypoxemia and bilateral radiographic opacities, while the pathological hallmark is diffuse alveolar damage. Pathophysiology Aetiology Indirect lung injury: sepsis, shock, trauma, pancreatitis, drug OD, intracranial haemorrhage,…

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