Waardenburg syndrome (WS) is a neurocristopathy with an autosomal dominant mode of inheritance, and considerable clinical and genetic heterogeneity. WS type II is the most common type of WS in many populations presenting with sensorineural hearing impairment, heterochromia iridis, hypoplastic blue eye, and pigmentary abnormalities of the hair and skin. To date, mutations of MITF, SOX10, and SNA...

Introduction: Coronary artery anomalies are rare clinical entities reported in 0.6% to 5.6% of diagnostic coronary angiographies. Anomalous origins of coronary arteries from distal segments are rarely reported. Presented herein is a coronary anomaly in which the circumflex artery (CX) originated as a continuation of the posterolateral branch of the right coronary artery (RCA) w...

The phenomenon of fixation disparity is of interest in the study of fusional processes in patients with single binocular vision. An understanding of its mechanism is of im­ portance in the pathogenesis of strabismus. The clinical determination of the amount and type of fixation disparity relative to its practical clinical and therapeutic implications has been discussed elsewhere. The present st...

Alcohol use disorders (AUDs) are a health problem of high prevalence in most communities and such problems account for 5% of the total burden of disease worldwide. Clinical toxicologists are commonly required to treat patients having AUDs and associated drug/alcohol-related harm. There have been recent changes to some of the diagnostic criteria (notably in DSM V) relevant to AUDs, with older te...

The cardiovascular system is a common target of amyloidosis. This review presents the current clinical and diagnostic approach to amyloidosis, with the emphasis on cardiovascular involvement. It summarises recent nomenclature, classification, and pathogenesis of amyloidosis. In addition, non-invasive possibilities are discussed, together with endomyocardial biopsies in the diagnosis of cardiac ...

Sensitisation to brain antigen was demonstrated in eight of 24 clinically normal first generation children in a family with hereditary ataxia. This ratio is consistent with that expected in a dominantly inherited condition. It suggests that immunological reactivity may precede the clinical expression of disease, with important implications for presymptomatic diagnosis and for pathogenesis of de...