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C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload.
- S. Whatley, S. Ducamp, +15 authors H. Puy
- Biology, Medicine
- American journal of human genetics
- 12 September 2008
All reported mutations in ALAS2, which encodes the rate-regulating enzyme of erythroid heme biosynthesis, cause X-linked sideroblastic anemia. We describe eight families with ALAS2 deletions, either… Expand
An Analysis of 112 Acute Porphyric Attacks in Cape Town, South Africa: Evidence That Acute Intermittent Porphyria and Variegate Porphyria Differ in Susceptibility and Severity
Abstract: Four forms of porphyria may present clinically with the acute attack, an episodic, severe, and potentially life-threatening manifestation characterized by abdominal and neurologic symptoms.… Expand
Liver disease in erythropoietic protoporphyria: insights and implications for management
The porphyrias are a group of disorders caused by defects in haem biosynthesis (fig 1). Of the seven main types of porphyria recognised, two are characterised by associated liver disease (table 1).… Expand
A R59W mutation in human protoporphyrinogen oxidase results in decreased enzyme activity and is prevalent in South Africans with variegate porphyria
Variegate porphyria (VP), a low-penetrant autosomal dominant inherited disorder of haem metabolism, is characterised by photosensitivity (Fig. 1) and a propensity to develop acute neuropsychiatric… Expand
A systematic study of the clinical and biochemical expression of variegate porphyria in a large South African family
Background Variegate porphyria (VP) is an autosomal dominant disorder associated with deficient haem synthesis. Recent reports indicate that the clinical penetrance of VP may have been overestimated… Expand
The acute porphyrias
Public attention has been drawn to the acute porphyrias in the past few years by speculation that they affected the character of George III and the creative genius of Vincent van Gogh. During the… Expand
Treatment of acute porphyria.
Haem preparations are now available for the specific treatment of attacks of acute porphyria. This review focuses on their use in this uncommon but life-threatening medical emergency.
Should essays and other “open-ended”-type questions retain a place in written summative assessment in clinical medicine?
- R. Hift
- Psychology, Medicine
- BMC medical education
- 28 November 2014
BackgroundWritten assessments fall into two classes: constructed-response or open-ended questions, such as the essay and a number of variants of the short-answer question, and selected-response or… Expand
Women's perceptions of the benefits and risks of skin‐lightening creams in two South African communities
- N. Dlova, S. Hamed, J. Tsoka-Gwegweni, A. Grobler, R. Hift
- Geography, Medicine
- Journal of cosmetic dermatology
- 1 September 2014
Skin‐lightening products are commonly used by black communities in South Africa and worldwide. This practice has deep historical and cultural roots and is associated with adverse cutaneous effects.
South African medical schools: Current state of selection criteria and medical students' demographic profile.
- L. J. van der Merwe, G. J. van Zyl, +16 authors J. Volmink
- South African medical journal = Suid-Afrikaanse…
- 16 December 2015
BACKGROUND Selection of medical students at South African (SA) medical schools must promote equitable and fair access to students from all population groups, while ensuring optimal student throughput… Expand