• Maternally inherited diabetes and deafness with a variable presentation across three generations within a pedigree, South Africa 

  Makgopa, Herbert; Kemp, Tanja; Meldau, Surita; Honey, Engela M.; Chale-Matsau, Bettina (AOSIS, 2024-05)

  INTRODUCTION: Maternally inherited diabetes and deafness (MIDD) is caused by the m.3243A>G pathogenic variant in maternally inherited mitochondrial DNA. Diabetes is prevalent in our setting; however, MIDD is rarely diagnosed. ...
• A scoping review evaluating the current state of gut microbiota research in Africa 

  Pheeha, Sara M.; Tamuzi, Jacques L.; Chale-Matsau, Bettina; Manda, S.O.M. (Samuel); Nyasulu, Peter S. (MDPI, 2023-08)

  The gut microbiota has emerged as a key human health and disease determinant. However, there is a significant knowledge gap regarding the composition, diversity, and function of the gut microbiota, specifically in the ...
• A framework for implementing best laboratory practices for non-integrated point of care tests in low resource settings 

  Jafri, Lena; Ahmed, Sibtain; Majid, Hafsa; Ghani, Farooq; Pillay, Tahir S.; Khan, Aysha Habib; Siddiqui, Imran; Shakeel, Shahid; Ahmed, Shuja; Azeem, Saba; Khan, Adil (International Federation of Clinical Chemistry and Laboratory Medicine, 2023)

  The method we respond to pandemics is still inadequate for dealing with the point of care testing (POCT) requirements of the next large epidemic. The proposed framework highlights the importance of having defined ...
• Impact of potassium test sample rejections on routine laboratory service, South Africa 

  McAlpine, Sarah; Chale-Matsau, Bettina (AOSIS, 2023-12-12)

  BACKGROUND : Accurate potassium measurements are necessary for effective clinical management of hyperkalaemia. Pre-analytical factors may affect laboratory measurements, leading to erroneous results and inappropriate ...
• 25-Hydroxycholecalciferol inhibits cell growth and induces apoptosis in SiHa cervical cells via autocrine vitamin D metabolism 

  Punchoo, Rivak; Dreyer, Greta; Pillay, Tahir S. (MDPI, 2023-03)

  Preclinical studies show that the anticancer actions of vitamin D metabolites are mediated by apoptosis, inhibition of cell proliferation and induction of cell cycle arrest. Cervical cancer cells express an autocrine vitamin ...
• Laboratory considerations for reporting cycle threshold value in COVID-19 

  Punchoo, Rivak; Bhoora, Sachin; Bangalee, Avania (International Federation of Clinical Chemistry and Laboratory Medicine, 2022-08)

  The Coronavirus Disease 2019 (COVID-19) pandemic is caused by the SARS-CoV-2 RNA virus. Nucleic acid amplification testing (NAAT) is the mainstay to confirm infection. A large number of reverse transcriptase polymerase ...
• The added value of molecular-based diagnostics in the African forensic medical setting 

  Van Deventer, B.S.; Makhoba, Aubrey Musa; Du Toit-Prinsloo, L.; Van Niekerk, Chantal (Clinics Cardive Publishing, 2022-09)

  Sudden unexpected infant death (SUDI) is reported to be an extraordinarily high burden in sub-Saharan Africa, with the incidence rate in South Africa among the highest in the world. It is common for the cause of many ...
• Neonatal presentation of a child with Liddle syndrome, South Africa 

  Steyn, Nicolene; Chale-Matsau, Bettina; Abera, Aron B.; Van Biljon, Gertruida; Pillay, Tahir S. (AOSIS, 2023-04-14)

  INTRODUCTION : Liddle syndrome is an autosomal dominantly inherited disorder usually arising from single mutations of the genes that encode for the alpha, beta and gamma epithelial sodium channel (ENaC) subunits. This leads ...
• Structure-based identification of galectin-1 selective modulators in dietary food polyphenols : a pharmacoinformatics approach 

  Bhowmick, Shovonlal; Saha, Achintya; AlFaris, Nora Abdullah; ALTamimi, Jozaa Zaidan; ALOthman, Zeid A.; Aldayel, Tahany Saleh; Wabaidur, Saikh Mohammad; Islam, Md Ataul (Springer, 2022-06)

  In this study, a set of dietary polyphenols was comprehensively studied for the selective identification of the potential inhibitors/modulators for galectin-1. Galectin-1 is a potent prognostic indicator of tumor progression ...
• Ketamine : friend or foe? 

  Steyn, Nicolene (BMJ Publishing Group, 2023-09)

  Ketamine, a dissociative anaesthetic drug, acts on the central nervous system (CNS) primarily through antagonism of the n-methyl-d-aspartate (NMDA) receptor. Methods of administration include intravenous, intramuscular, ...
• Practical tips to using formalin-fixed paraffin-embedded tissue archives for molecular diagnostics in a South African setting 

  Van Deventer, Barbara Stroh; Du Toit-Prinsloo, L.; Van Niekerk, Chantal (AOSIS, 2022-06-23)

  BACKGROUND : Formalin-fixed paraffin-embedded (FFPE) tissue archives in hospitals, biobanks, and others offer a vast collection of extensive, readily available specimens for molecular testing. Unfortunately, the use of ...
• Postmortem genetic testing in young individuals : what clinical medical practitioners need to know 

  Van Deventer, Barbara Stroh; Du Toit-Prinsloo, Lorraine; Van Niekerk, Chantal (Health and Medical Publishing Group, 2022-12)

  The death of a young person is most often a tragic occurrence, more so when this death was unexpected. Forensic pathologists are mandated to investigate such deaths, and there has been a strong move internationally towards ...
• Cardiovascular deaths : what do the genes say? 

  Van Deventer, Barbara Stroh; Du Toit-Prinsloo, Lorraine; Van Niekerk, Chantal (Health and Medical Publishing Group, 2022-12)

  Cardiovascular diseases (CVDs) are ever-increasing, and as such are considered to be one of the most concerning public health burdens worldwide. They remain the leading cause of death across the world (~17.7 million deaths ...
• Decline in antibody responses to SARS-CoV-2 post-vaccination poses a risk to health care workers 

  Worsley, Catherine M.; Van der Mescht, Mieke Adri; Hoffmann, Daniel; Meyer, Pieter Willem Adriaan; Ueckermann, Veronica; Rossouw, Theresa M. (Elsevier, 2022-09)

  No abstract available.
• Identification of selective Lyn inhibitors from the chemical databases through integrated molecular modelling approaches 

  Shetve, V.V.; Bhowmick, Shovonlal; Alissa, Siham A.; Alothman, Z.A.; Wabaidu, S.M.; Asmary, F.A.; Alhajri, Hassna Mohammed; Islam, Md Ataul (Taylor and Francis, 2021)

  In the current study, the Asinex and ChEBI databases were virtually screened for the identification of potential Lyn protein inhibitors. Therefore, a multi-steps molecular docking study was carried out using the VSW utility ...
• Spinal epidural abscess caused by Aspergillus spp masquerading as spinal tuberculosis in a person with HIV 

  Rule, Roxanne; Mitton, Barend C.; Govender, Nelesh P.; Hoffmann, Daniel; Said, Mohamed (Elsevier, 2021-11)

  Spinal epidural abscess caused by Aspergillus spp is a debilitating form of invasive aspergillosis that can easily be misdiagnosed as spinal tuberculosis due to shared risk factors and clinical features. In this Grand ...
• Evaluation of serological assays for the diagnosis of HIV infection in adults 

  Bangalee, Avania; Bhoora, Sachin; Punchoo, Rivak (AOSIS, 2021-10)

  Serological tests based on the enzyme immunoassay (EIA) are the primary tool for the diagnosis of human immunodeficiency virus (HIV) in adults and have rapidly evolved to quicker, affordable and more accurate test formats ...
• Structure‑based identification of SARS‑CoV‑2 main protease inhibitors from anti‑viral specific chemical libraries : an exhaustive computational screening approach 

  Bhowmick, Shovonlal; Saha, Achintya; Osman, Sameh Mohamed; Alasmary, Fatmah Ali; Almutairi, Tahani Mazyad; Islam, Md Ataul (Springer, 2021-08)

  Worldwide coronavirus disease 2019 (COVID-19) outbreak is still threatening global health since its outbreak first reported in the late 2019. The causative novel virus has been designated as severe acute respiratory ...
• Flow cytometric analysis of apoptotic biomarkers in actinomycin D-treated SiHa cervical cancer cells 

  Punchoo, Rivak; Zhou, Esther; Bhoora, Sachin (MyJove Corporation, 2021-08-26)

  Apoptosis biomarkers were investigated in actinomycin D-treated SiHa cervical cancer cells using a benchtop flow cytometer. Early biomarkers (Annexin V and mitochondrial membrane potential) and late biomarkers (caspases ...
• Pharmacoinformatics approach based identification of potential Nsp15 endoribonuclease modulators for SARS-CoV-2 inhibition 

  Savale, Rutuja Umesh; Bhowmick, Shovonlal; Osman, Sameh Mohamed; Alasmary, Fatmah Ali; Almutairi, Tahani Mazyad; Abdullah, Dalal Saied; Patil, Pritee Chunarkar; Islam, Md Ataul (Elsevier, 2021-03)

  In the current study, a structure-based virtual screening paradigm was used to screen a small molecular database against the Non-structural protein 15 (Nsp15) endoribonuclease of Severe Acute Respiratory Syndrome Coronavirus ...

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