A5038644227- Immunodeficiency and Autoimmune Disorders
- Prenatal Substance Exposure Effects
- Gestational Diabetes Research and Management
- Genomics and Rare Diseases
- HIV/AIDS Research and Interventions
- Prenatal Screening and Diagnostics
- BRCA gene mutations in cancer
- Neurogenetic and Muscular Disorders Research
- Birth, Development, and Health
- Folate and B Vitamins Research
- Cystic Fibrosis Research Advances
- Adolescent Sexual and Reproductive Health
- Heterotopic Ossification and Related Conditions
- Medical Imaging and Pathology Studies
- Genetic Syndromes and Imprinting
- Global Maternal and Child Health
- Fetal and Pediatric Neurological Disorders
- Climate Change and Health Impacts
- Congenital Diaphragmatic Hernia Studies
- HIV Research and Treatment
- Genetic and Kidney Cyst Diseases
- HIV/AIDS drug development and treatment
- Congenital Ear and Nasal Anomalies
- Genomic variations and chromosomal abnormalities
- HIV-related health complications and treatments
Stellenbosch University
2016-2025
Tygerberg Hospital
2013-2025
National Health Laboratory Service
2006-2025
University of the Witwatersrand
2002-2025
South African Medical Research Council
2017-2021
South African Tuberculosis Vaccine Initiative
2017-2021
Ghent University Hospital
2016
University of Cape Town
2002-2013
Johannesburg Hospital
2004-2010
Corona (Poland)
2005
Abstract Purpose Breast cancer (BC) is the commonest in South African women. A proportion are associated with a pathogenic or likely (P/LP) variant BC susceptibility gene. Clinical guidelines for genetic testing used to optimise detection while containing costs. We assessed rate women of diverse ancestries who met National Department Health (NDOH) guidelines, and analysed relationships between criteria, participant characteristics presence BRCA1/2 P/LP variant. Methods Records from 376 NDOH...
Background: Single-dose nevirapine (NVP) prophylaxis to mother and infant is widely used in resource-constrained settings for preventing mother-to-child transmission (MTCT) of HIV-1. Where women do not access antenatal care or HIV testing, postexposure the may be an important preventative strategy. Methods: This multicentre, randomized, open-label clinical trial (October 2000 September 2002) South Africa compared single-dose NVP with 6 weeks zidovudine (ZDV), commenced within 24 h delivery...
<ns3:p>Introduction Epidemiological evidence linking heat exposure to adverse maternal and child health outcomes is compelling. However, the biological social mechanisms underlying these associations remain poorly understood. Understanding pathways explaining important given rising global temperatures, urgent need for developing testing adaptive interventions. Methods This transdisciplinary study in Johannesburg, South Africa, will monitor a cohort of 200 women from their second trimester...
Limited data exist on managing hereditary breast cancer in low- middle-income countries (LMICs). We assessed proband and cascade genetic testing, risk-reducing measures a South African regional service. analysed records from 534 consecutive female probands receiving counselling for their 115 relatives who attended counselling. Demographic clinical data, family pedigrees test were collated hospital records, laboratory screening appointments radiological records. Test uptake was high (86.9%),...
Objective. To describe the prevalence, characteristics and risk factors for fetal alcohol syndrome (FAS) partial FAS among schoolgoing children in Grade 1 Northern Cape Province, South Africa. Design. A cross-sectional study using a two-tiered method ascertainment of FAS/partial cases, comprising: screening growth parameters, diagnostic assessment for screen-positive clinical neurocognitive assessments, maternal history drinking during pregnancy. Mothers or caregivers matched controls were...
AimsPrevalence of fetal alcohol spectrum disorders (FASDs) is remarkably high in several provinces South Africa; yet population-level knowledge the harms maternal drinking remains low. In two heavily affected areas, we assessed effectiveness interventions to heighten awareness these and alter social norms about pregnancy.
Background Fetal alcohol spectrum disorder ( FASD ) and fetal syndrome FAS are common in some South African populations, notably those of mixed ancestry descent rural areas small towns. Little is known about / prevalence the majority Africans: city dwellers Black ethnicity. This study describes a city, comparing 2 suburbs with predominantly (Roodepan) (Galeshewe) populations that house over 60% population. Methods We conducted tiered, active case ascertainment for also detected less...
Background. Fetal alcohol syndrome (FAS) is common in parts of South Africa; rural residence a frequently cited risk factor. We conducted FAS school prevalence survey an isolated community West Coast village Western Cape Province, so obtaining the first directly measured rate, focusing specifically on African area, and partial (PFAS). Methods. The study area (Aurora village), about 2 500 people grain-producing region, has one primary school. All learners were eligible for inclusion. Initial...
Abstract STAC3 disorder, or Native American myopathy, is characterised by congenital hypotonia, musculoskeletal and palatal anomalies, susceptibility to malignant hyperthermia. A c.851 G > C (p.Trp284Ser) pathogenic variant, common in the Lumbee tribe, has been identified other populations worldwide, including patients of African ancestry. We report on frequency a cohort 127 presenting with hypotonia that tested negative for spinal muscular atrophy and/or Prader-Willi syndrome. present...
Background: We examined correlates of infant morbidity and mortality within the first 3 months life among HIV-exposed infants receiving post-exposure antiretroviral prophylaxis in South Africa. Methods: conducted a prospective cohort study 848 mother–child dyads. Multivariable Cox proportional hazards models were used. Results: The main causes gastrointestinal respiratory infections. Morbidity was higher with HIV infection (HR: 2.61; 95% CI: 1.40–4.85; p = 0.002) maternal plasma viral load...
Primary immunodeficiency disorders (PIDs) are inborn errors of immunity (IEI) that cause immune system impairment. To date, more than 400 single-gene IEI have been well defined. The advent next generation sequencing (NGS) technologies has improved clinical diagnosis and allowed for discovery novel genes variants associated with IEI. Molecular provides clear benefits patients by altering management, enabling access to certain treatments facilitates genetic counselling. Here we report on an...
Efavirenz is the preferred non-nucleoside reverse transcriptase inhibitor for first-line antiretroviral treatment in many countries. For women of childbearing potential, advantages efavirenz are balanced by concerns that it teratogenic. This paper reviews evidence teratogenicity and considers implications common clinical scenarios. Concerns efavirenz-induced fetal effects stem from animal studies, although predictive value data humans unknown. Four retrospective cases central nervous system...
Objective: To describe the extent and nature of developmental delay at different stages in childhood a community South Africa, with known high rate Fetal Alcohol Spectrum Disorder (FASD). Method: A cohort infants, clinically examined for FASD two time periods, 7-12 months (N= 392; 45 FASD) 17-21 age 83, 35 were assessed using Griffiths Mental Developmental Scales (GMDS). Results: Infants children perform worse than their Non-FASD counterparts over all scales total quotients. Mean quotients...
Background. Genetic testing for BRCA mutations has been available in the Western Cape of South Africa since 2005, but practical implementation genetic counselling and challenging. Objective. To describe an approach to breast cancer developed a resource-constrained environment at Tygerberg Hospital Town, Cape. Methods . is offered stepwise manner our diverse patient population, with focus on affected probands, subsequent cascade testing. A record review between 2005 2011 was performed....
Primary immunodeficiency disorders (PIDs) render patients vulnerable to infection with a wide range of microorganisms, and thus provide good in vivo models for assessment immune responses during infectious challenges. Priming the system, especially infancy, depends on different environmental exposures medical practices. This may determine timing phenotype clinical appearance deficits as exemplified early exposure bacille Calmette-Guerin (BCG) vaccination dissemination combined...
In 2013, a pregnancy exposure registry and birth defects surveillance (PER/BDS) system was initiated in eThekwini District, KwaZulu-Natal (KZN), to assess the impact of antiretroviral treatment (ART) on outcomes.At end first year, we assessed risk major congenital malformations (CM) other adverse outcomes (ABOs) detected at birth, children born women exposed ART during pregnancy.Data were collected from who delivered Prince Mshiyeni Memorial Hospital, Durban, 07 October 2013 06 2014, using...
The prenatal screening programme for Down syndrome (DS) in the South African public health sector remains primarily based on advanced maternal age (AMA). We assessed changes over time and effectiveness of this within a Cape Town district.Retrospective analysis Groote Schuur Hospital Cytogenetic Laboratory Pregnancy Counselling Clinic databases audit delivery records at primary care facility.The number amniocenteses performed AMA consecutive 5-year periods reduced progressively from 786 1981...