Publications by authors named "A Boutall"
: Although genetic testing has improved our ability to diagnose Lynch syndrome (LS), there is still limited information on the extent of variations in the clinical and genetic landscape among LS variant heterozygotes (LSVH) in Africa. We sought to investigate the cancer spectrum, cumulative risk, and survival outcomes of LSVH with pathogenic/likely pathogenic variants (P/LPVs) in the and genes using a LS registry in South Africa over the last 30 years. : A retrospective study was conducted to retrieve demographic, clinical, and genetic data of all LSVH with P/LPVs in the and genes from our LS registry.
View Article and Find Full Text PDFBackground: As healthcare recipients and individuals affected by antimicrobial resistance (AMR), patients and their carers can be engaged in infection prevention and control (IPC) and antimicrobial stewardship (AMS) initiatives to manage AMR. To effectively participate in these initiatives, patients and carers need to understand general terms used in infection care. We explored awareness of commonly used infection-related terms among patients and carers in the surgical out-patient of a tertiary academic hospital.
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- - The study explores variations in the age at cancer diagnosis among Lynch syndrome patients, focusing on how genetic polymorphisms influence this variability, particularly in South Africans with specific germline pathogenic variants.
- - An analysis was conducted on 359 Lynch syndrome variant heterozygotes using advanced genetic testing methods to identify associations between genetic polymorphisms and the age at which cancer was diagnosed.
- - Results showed that certain genotypes increased the likelihood of younger cancer diagnosis, while others provided protective effects, suggesting that a mix of risk and protective genes plays a significant role in cancer onset age among Lynch syndrome patients.
Article Synopsis
- Lack of comprehensive data on congenital disorders (CDs) in South Africa affects resource distribution and detection of risks from harmful pregnancy exposures.
- A study using the Western Cape Pregnancy Exposure Registry analyzed data from 2016 to 2022, finding a confirmed prevalence of major CDs at 7.2 per 1,000 births, which increased to 9.2 when including missed diagnoses.
- Factors such as older maternal age and diabetes raised CD prevalence, while HIV status and other conditions did not significantly impact rates; improving neonatal checks and records could enhance CD detection.
Lynch syndrome (LS) is an inherited cancer predisposition disorder associated with an elevated risk of developing various solid cancers, but mostly colorectal cancer (CRC). Despite having the same germline pathogenic variant (PV) in one of the mis-match repair genes or the gene, Lynch syndrome variant heterozygotes (LSVH) exhibit a remarkable phenotypic variability in the risk of developing cancer. The role of human leukocyte antigen (HLA) in modifying cancer development risk prompted our hypothesis into whether HLA variations act as potential genetic modifiers influencing the age at cancer diagnosis in LSVH.
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