Publications by authors named "Boutall A"

: 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.

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Background: 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.
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  • 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.
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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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Aims: Colorectal carcinoma (CRC) is a common cause of morbidity and mortality worldwide, and an emerging public health problem in sub-Saharan Africa. Several authors have described an increased frequency of mismatch repair-deficient (dMMR) CRC in sub-Saharan Africa, but these tumours remain poorly characterised molecularly. We sought to interrogate the somatic molecular genetic landscape of dMMR CRC in a cohort of young patients to better inform Lynch syndrome (LS) screening strategies and personalised medicine approaches in our setting.

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Objective: The irrational use of antibiotics is a leading contributor to antibiotic resistance. Antibiotic stewardship (AS) interventions predominantly focus on prescribers. This study investigated the influence and participation of inpatients in infection-related care, including antibiotic decision-making, within and across two tertiary hospitals in South Africa (Cape Town) and India (Kerala).

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Our understanding of the molecular classification of colorectal carcinoma (CRC) has evolved significantly over the past two decades. Tumours can be broadly categorised as microsatellite stable (MSS), microsatellite instability (MSI) or CpG island-methylator phenotype. Prognostic and predictive information is provided by these categories.

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Objective: To identify perceptions and awareness of changes in infection prevention and control (IPC) and antimicrobial stewardship (AMS) practices among healthcare workers (HCWs) during the COVID-19 pandemic in India and South Africa (SA).

Method: A self-administered online survey which included participant demographics, knowledge and sources of COVID-19 infection, perceived risks and barriers, and self-efficacy. Data were analysed using descriptive statistics.

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Objective: Many studies, largely from high-income countries (HIC), have reported outcomes in babies with trisomy 18 (T18), with a paucity of data from Africa. Knowledge of outcomes is important in counselling women prenatally diagnosed with T18. We aimed to review all prenatally diagnosed cases of T18 between January 2006 and December 2021.

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Introduction: Preoperative anemia is relatively common in colon cancer patients; however, its impact on short-term surgical outcomes is not well established. The aim of our study was to evaluate short-term surgical outcomes in colon cancer patients with preoperative anemia undergoing colectomy.

Methods: We performed a 4-year analysis of the ACS-NSQIP and included all adult patients who underwent colectomy for colon cancer.

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  • The study aims to explore the causes of isolated fetal ascites, its effects on perinatal outcomes, and the likelihood of it progressing to fetal hydrops.
  • A total of 1,983 articles were reviewed, leading to the inclusion of 11 studies with 315 cases, focusing on various causes like genitourinary and gastrointestinal issues, with a significant analysis of outcomes based on these causes.
  • Results indicated that chylous and idiopathic ascites had the best survival rates (100% and 90% respectively), while those caused by structural disorders and cardiac issues had the lowest survival rates (25% and 32% respectively).
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Objective: To explore the existing evidence on patient understanding of and/or participation in infection-related care in surgical specialties.

Method: A scoping review of the literature was conducted. PubMed, Web of Science, Scopus, and grey literature sources were searched using predefined search criteria for policies, guidelines, and studies in the English language.

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  • The incidence of early-onset colorectal cancer (diagnosed in individuals under 50) is on the rise globally, with distinct clinical and molecular characteristics compared to late-onset cases.
  • Factors contributing to this increase may include diet, obesity, antibiotic use, and changes in gut microbiome, with most cases occurring sporadically rather than being genetically inherited.
  • There is a need for tailored preventive and therapeutic approaches for early-onset colorectal cancer, as younger patients often present with more severe disease stages but similar outcomes to older patients after treatment.
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Background: The effect of team dynamics on infection management and antimicrobial stewardship (AMS) behaviours is not well understood. Using innovative visual mapping, alongside traditional qualitative methods, we studied how surgical team dynamics and communication patterns influence infection-related decision making.

Materials/methods: Between May and November 2019, data were gathered through direct observations of ward rounds and face-to-face interviews with ward round participants in three high infection risk surgical specialties at a tertiary hospital in South Africa.

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Objectives: To investigate the drivers for infection management and antimicrobial stewardship (AMS) across high-infection-risk surgical pathways.

Methods: A qualitative study-ethnographic observation of clinical practices, patient case studies, and face-to-face interviews with healthcare professionals (HCPs) and patients-was conducted across cardiovascular and thoracic and gastrointestinal surgical pathways in South Africa (SA) and India. Aided by Nvivo 11 software, data were coded and analysed until saturation was reached.

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The SARS-CoV-2 pandemic has presented clinicians with an enormous challenge in managing a respiratory virus that is not only capable of causing severe pneumonia and acute respiratory distress syndrome, but also multisystem disease. The extraordinary pace of clinical research, and particularly the surge in adaptive trials of new and repurposed treatments, have provided rapid answers to questions of whether such treatments work, and has resulted in corticosteroids taking centre stage in the management of hospitalised patients requiring oxygen support. Some treatment modalities, such as the role of anticoagulation to prevent and treat potential thromboembolic complications, remain controversial, as does the use of high-level oxygen support, outside of an intensive care unit setting.

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  • The SARS-CoV-2 pandemic has significantly impacted healthcare delivery, prompting public hospitals to suspend non-essential services to prioritize COVID-19 care.
  • The Western Cape Province in South Africa, particularly Cape Town, was the hardest-hit area during the epidemic, necessitating a strategic response from local healthcare facilities.
  • This text outlines the development of the COVID-19 clinical service at Groote Schuur Hospital, aiming to share insights on overcoming challenges faced by hospitals in low-resource settings during the pandemic and future surges.
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Background: Colorectal cancer (CRC) is common and often presents with advanced disease in Africa. Multivisceral resection (MVR) improves survival in locally advanced (T4b) CRC. The aim was to describe the management and outcomes of patients with clinical T4b CRC without metastatic disease who underwent MVR.

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Background: Nomenclature for mesh insertion during ventral hernia repair is inconsistent and confusing. Several terms, including 'inlay', 'sublay' and 'underlay', can refer to the same anatomical planes in the indexed literature. This frustrates comparisons of surgical practice and may invalidate meta-analyses comparing surgical outcomes.

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Background: No standardized written or volumetric definition exists for 'loss of domain' (LOD). This limits the utility of LOD as a morphological descriptor and as a predictor of peri- and postoperative outcomes. Consequently, our aim was to establish definitions for LOD via consensus of expert abdominal wall surgeons.

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An unusual case of an immunocompetent young adult with osteomyelitis and pyomyositis of his right thigh is presented. Despite the absence of typical clinical signs, a high index of suspicion and 16S RNA PCR led to an early diagnosis of Fusobacterium infection and subsequent successful multidisciplinary treatment.

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Abstract: Abdominoperineal excision (APE) is used to resect cancers in the distal rectum and anus where sphincterpreserving surgery is not possible. It is associated with increased local recurrence rates compared to anterior resection. The extralevator abdominoperineal excision (ELAPE) was developed to reduce local recurrence and was widely adopted without sound evidence.

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