BACKGROUND: The treatment of thin melanoma (Breslow thickness <1.0 mm) may include
sentinel lymph node (SLN) biopsy (SLNB). The validity of SLNB for thin melanoma remains …

CYP3A5 is the major cytochrome P450 enzyme in the oesophagus and metabolises many
potentially carcinogenic compounds. The frequencies of CYP3A5 allelic variants, CYP3A5*2, *…

Molecular linkage analysis was undertaken on a large Mauritian kindred with X-linked
mixed deafness, stapes fixation, and perilymphatic gusher (X-LDSF). DNA probe pDP34 (DXYS1) …

A genetic service for Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD)
was initiated in Cape Town in 1987. Of the 143 DMD patients diagnosed during the …

Complement activation in myasthenia gravis (MG) may damage muscle endplate and
complement regulatory proteins such as decay-accelerating factor (DAF) or CD55 may be …

The type II collagenopathies include a wide spectrum of phenotypes ranging from mild spondylo
epiphyseal dysplasia (SED) to severe achondrogenesis/ hypochondrogenesis. Several …

Multiple epiphyseal dysplasia is broadly categorised into the more severe Fairbank and the
milder Ribbing types. In this paper we document mild MED in a South African kindred, and …

Background It has long been noted that the chain from identification of need (research gap)
to impact in the real world is both long and tortuous. This study aimed to contribute evidence …

Hereditary spastic paraplegia (HSP) is rarely inherited in an X‐linked recessive mode in
pure and complicated forms. Recently, molecular linkage studies have suggested that these …

The exposure of the developing foetal heart to hyperglycaemia in mothers with diabetes
mellitus is a major risk factor for foetal cardiac complications that lead to heart failure. We …