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South African Patients (south + african_patient)
Selected AbstractsNovel non-sense GCH1 mutation in a South African family diagnosed with dopa-responsive dystoniaEUROPEAN JOURNAL OF NEUROLOGY, Issue 3 2010S. Bardien Background:, Dopa-responsive dystonia (DRD), a movement disorder characterized by onset in early childhood and a dramatic response to low doses of levodopa, has been shown to be caused by a number of different mutations in the GCH1 gene. Methods:, We identified a South African family which presented with DRD in three family members. Polymerase chain reaction (PCR) primers were designed to span all six exons of GCH1 and the PCR products were screened for pathogenic mutations using direct sequencing. Results:, A novel non-sense mutation (c.233delT; p.I78fsX79) was identified in the DRD patients, which would produce a markedly truncated protein of only 78 amino acids. This mutation was also present in a number of asymptomatic family members. Conclusions:, A novel non-sense mutation in the GCH1 gene can be associated with DRD and reduced penetrance in South African patients. [source] Increased detection of HBV DNA in HBsAg-positive and HBsAg-negative South African HIV/AIDS patients enrolling for highly active antiretroviral therapy at a Tertiary HospitalJOURNAL OF MEDICAL VIROLOGY, Issue 3 2009Azwidowi Lukhwareni Abstract This retrospective study investigated the prevalence of hepatitis B virus (HBV) in 192 stored sera from human immunodeficiency virus (HIV) positive South African patients initiating antiretroviral therapy (ART), and explored the implications of HBV,HIV co-infection on laboratory diagnosis of HBV. HBV serology (HBsAg, anti-HBs and anti-HBc) and nested HBV PCR assays targeting the HBV polymerase gene were performed, with HBV DNA positive samples being quantified with Cobas Taqman HBV test 48 assay (Roche Diagnostics). The study found that 63% (121/192) of patients had past or present HBV infection, and 40.6% (78/192) had detectable HBV DNA. Also, 22.9% (44/192) of patients were HBsAg positive and HBV DNA positive, while 23% (34/148) of HBsAG negatives had occult HBV infections. Of the 78 HBV DNA positive samples, 62.8% had viral loads ranging from 102 to ,108 IU/ml, and 37.2% had HBV viral loads <200 IU/ml. There was a statistically significant positive association between HBsAg-positivity and high viral loads, with 27% (12/44) of HBsAg positives having HBV viral loads between 104 and ,108 IU/ml, compared to only 5.9% (2/34) of HBsAg negatives (relative risk: 4.64; 95% confidence interval: 1.11, 19.35; chi-square P -value,=,0.015). The study shows that the majority of HIV/AIDS patients initiating ART have either acute or chronic HBV infections, and further confirms that HIV remains a risk factor for occult HBV infections in South African patients as previously shown. The findings strongly support HBV screening in all HIV-positive patients initiating ART in South Africa, considering that current ART regimens include drugs with anti-HBV activity (e.g., lamivudine). J. Med. Virol. 81:406,412, 2009. © 2009 Wiley-Liss, Inc. [source] Quality of life issues for South Africans with acne vulgarisCLINICAL & EXPERIMENTAL DERMATOLOGY, Issue 1 2005A. Mosam Summary The adverse effects of acne on the psyche have been established in patients from ,first world' countries. There has been no in depth study in predominantly black patients from Africa addressing this issue. This was a prospective cross-sectional study of acne patients attending a dermatology unit in KwaZulu-Natal, South Africa. A questionnaire was completed and acne graded by the Global Acne Grading scale. Psychological morbidity and quality of life (QOL) were assessed by the General Health Questionnaire and Dermatology Specific Quality of Life Questionnaires, respectively. We found that clinical severity was not associated with patient perception or psychological distress. The QOL measures such as feelings, social activities, performance at work or school, activities of daily living and overall mental health were found to be associated with distress with associated P -values of 0.0002, 0.0168, 0.0032, 0.033 and <,0.0001, respectively. The severity of acne was not associated with psychological distress. Painful and bleeding lesions were associated with distress levels; P = 0.042 and P = 0.019, respectively. In conclusion, South African patients with acne vulgaris suffer significant psychological distress, which affects the quality of their lives. [source] | ||||||||||