Tuberous sclerosis complex (TSC) is highly variable in clinical presentation and findings. Disease manifestations continue to develop over the lifetime of an affected individual. Accurate diagnosis is fundamental to implementation of appropriate medical surveillance and treatment. Continue reading
Sarcopenia is a progressive and generalised skeletal muscle disorder that is associated with increased likelihood of adverse outcomes including falls, fractures, physical disability and mortality. Continue reading
Vasospastic angina (VSA) is a variant form of angina pectoris, in which angina occurs at rest, with transient electrocardiogram modifications and preserved exercise capacity. VSA can be involved in many clinical scenarios, such as stable angina, sudden cardiac death, acute coronary syndrome, arrhythmia or syncope. Continue reading
Raynaud’s phenomenon (RP), is a disorder of the microvasculature that generally affects the fingers and toes but can present on other extremities such as the nose, ears and nipples. Continue reading
Frontotemporal dementia (FTD) is a neurodegenerative disorder mainly affecting the frontal and/or temporal lobes, leading to dementia with prominent behavioural and/or language disturbances. Symptom onset is most often between 45 and 65 years. Continue reading
Nasal polyps are benign inflammatory masses, arising from the mucosa of the nose and paranasal sinuses. They are considered to be a subgroup of chronic rhinosinusitis, and clinical diagnosis is made on the basis of the presence of sinonasal symptoms for more than 3 months and the visualization of polyps in the nasal cavity. Continue reading
The diagnostic criteria for acute cholecystitis have high sensitivity (91.2%) and specificity (96.9%) and good diagnostic yield; therefore, their use as the diagnostic criteria for acute cholecystitis is recommended.
In 2000, IPF was defined as a specific form of chronic, progressive, fibrosing interstitial pneumonia of unknown cause, occurring primarily in older adults and limited to the lungs. Usual interstitial pneumonia (UIP) is the histopathological pattern of IPF. IPF is characterized by progressive worsening of dyspnea and lung function and is associated with a poor prognosis. Continue reading
The pseudotumor cerebri syndrome (PTCS) may be primary (idiopathic intracranial hypertension) or arise from an identifiable secondary cause. Characterization of typical neuroimaging abnormalities, clarification of normal opening pressure in children, and features distinguishing the syndrome of intracranial hypertension without papilledema from intracranial hypertension with papilledema have furthered our understanding of this disorder.
Encephalitis is a severe inflammatory disorder of the brain with many possible causes and a complex differential diagnosis.