Incidental diagnosis of familial hypercholesterolaemia in a mother–daughter pair: the underdiagnosis of the disease highlighting the need for universal screening (5 February, 2025) ...

Peroxisome biogenesis disorders are related to a spectrum of genetic diseases that range from severe Zellweger syndrome to milder infantile Refsum disease. Zellweger syndrome is characterised by ...

Diode lasers are one of the most widely used modalities in soft tissue dental surgery. Recent advancements have expanded the clinically useful emission spectrum of diode lasers to include the blue ...

A man in his early 60s presented with dysphagia and odynophagia. He was diagnosed with squamous cell carcinoma of the oesophagus. During his hospital stay, he developed a productive cough and ...

Drug reaction with eosinophilia and systemic symptoms (DRESS) syndrome and haemophagocytic lymphohistiocytosis (HLH) are rare but severe immune-mediated diseases with overlapping clinical ...

TSHB gene mutation results in isolated central congenital hypothyroidism (iCCH). Often diagnosed late, mild neurocognitive impairment is common despite thyroxine initiation. We discuss a female term ...

We present a case of unilateral, secondary open-angle glaucoma due to an underlying diffuse iris melanoma. The patient was referred by his ophthalmologist with uncontrolled, elevated intraocular ...

Obstructive uropathy secondary to malignant ureteral strictures is rare, with carcinoma of the breast accounting for less ...

Coats-like response refers to a condition where abnormal telangiectatic retinal vessels and aneurysms associated with subretinal exudation are seen in the setting of other ocular or systemic diseases.

This case highlights that refractory pancytopenia leading to death can occur with methimazole treatment even at a very low cumulative dose and after a very short duration of exposure. In addition, the ...

As an emerging toxic recreational drug, kratom use has been associated with a range of adverse effects, but reports of structural changes in the central nervous system are rare. We report a case of a ...

A sellar spine is a rare midline osseous spur, which arises from the dorsum sellae and projects into the pituitary fossa. It can be found incidentally on imaging or may present with symptoms related ...