RECENT PUBLICATIONS

International Urology and Nephrology – 2020
Mothusi W. Moloi; Jody A. Rusch; Fierdoz Omar; Udeme Ekrikpo; Collet Dandara; Aminu K. Bello; David Jayne; Ikechi G. Okpechi
Urinary MCP‑1 and TWEAK as non‑invasive markers of disease activity and treatment response in patients with lupus nephritis in South Africa
https://doi.org/10.1007/s11255-020-02780-9

Wits Journal of Clinical Medicine – 2020
Nina E. Diana, Ismail S. Kalla, Nicola Wearne, Sarah Kariv, Bianca Davidson, Jody Rusch, Zibya Barday, Abid M. Sheikh, Samantha Reiche, Farzahna Mohamed, Sara Saffer, Chandni Dayal, Jacqueline P. Venturas, Jarrod M. Zamparini, Dieter van der Westhuizen, Sean Wasserman, Nectarios Papavarnavas, Linda Boloko, Timothy de Wet, Graham Paget, Adam Mahomed2, Sagren Naidoo, Erika S.W. Jones
Acute Kidney Injury during the COVID-19 Pandemic – Experience from Two Tertiary Centres in South Africa
http://dx.doi.org/10.18772/26180197.2020.v2n3a2

ScienceDirect - ELSEVIER - 2020
Chale-Matsau, B; Mokoena, S; Kemp, T; Pillay, TS 
Hyperthyroidism in molar pregnancy: beta-HCG levels do not always reflect severity.
https://doi.org/10.1016/j.cca.2020.09.028

African Journal of Laboratory Medicine – 2020
Swart, C; Meldau, S; Centner, CM; Marais, AD; Omar, F
Validation of PHASE for deriving N-acetyltransferase 2 haplotypes in the Western Cape mixed ancestry population.
https://doi.org/10.4102/ajlm.v9i1.988

BMJ Journals – Journal of Clinical Pathology - 2020
Meldau S, Owen EP, Khan K, Riordan GT. 
Mitochondrial molecular genetic results in a South African cohort: divergent mitochondrial and nuclear DNA findings. 
https://doi.org/10.1136/jclinpath-2020-207026

ScienceDirect – ELSEVIER - 2020
Meldau S, Fratter C, Bhengu LN, et al. 
Pitfalls of relying on genetic testing only to diagnose inherited metabolic disorders in non-western populations - 5 cases of pyruvate dehydrogenase deficiency from South Africa.
https://doi.org/10.1016/j.ymgmr.2020.100629

African Journal of Laboratory Medicine - 2020
Swart C, Meldau S, Centner CM, Marais AD, Omar F. 
Validation of PHASE for deriving N-acetyltransferase 2 haplotypes in the Western Cape mixed ancestry population.
https://doi.org/10.4102/ajlm.v9i1.988

Wiley Online Library - 2020
Roberts L, Julius S, Dawlat S, Yildiz S, Rebello G, Meldau S, Pillay K, Esterhuizen A, Vorster A, Benefeld G, Da Rocha J, Beighton P, Sellars SL, Thandrayen K, Pettifor JM, Ramesar RS. 
Renal dysfunction, rod-cone dystrophy, and sensorineural hearing loss caused by a mutation in RRM2B. 
https://doi.org/10.1002/humu.24094

Journal of Wildlife Diseases – 2020
Friederike Pohlin, Markus Hofmeyr, Emma H. Hooijberg, Dee Blackhurst, Mmadi Reuben, Dave Cooper, Leith C.R. Meyer.
Challenges to animal welfare associated with capture and long road transport in boma-adapted black- (Diceros bicornis) and semi-captive white (Ceratotherium simum) rhinoceroses. 
https://doi.org/10.7589/2019-02-045

Arteriosclerosis, Thrombosis and Vascular Biology – 2020
Roeland Huijgen, Dirk Blom, Merel Hartgers, Kevin Chemello, Asier Benito-Vicente, Kepa Uribe, Zorena Behardien, Dee Blackhurst, Brigitte Brice, Joep Defesche, Annemiek De Jong, Rosemary Jooste, Bharati Ratanjee, Gabriele Solomons, Karen Wolmarans, G. Hovingh, Cesar Martín, Gilles Lambert, and A. David Marais.
Novel PCSK9 (Proprotein Convertase Subtilisin Kexin Type 9) Variants in Patients With Familial Hypercholesterolemia from Cape Town. 
https://doi.org/10.1161/ATVBAHA.120.314482

Science Direct – ELSEVIER - Comparative Biochemistry and Physiology Part A: Molecular & Integrative Physiology – 2020
Rodrigo Hohl, Dee M Blackhurst, Byron Donaldson, Kathryn M van Boom, Tertius A Kohn. 
Wild Antelope skeletal muscle antioxidant enzyme activities do not correlate with muscle fibre type or oxidative metabolism. 
https://doi.org/10.1016/j.cbpa.2019.110638

Frontiers in Veterinary Science, Animal Behavior and Welfare – 2020
Friederike Pohlin, Emma Henriette Hoojiberg, Peter Erik Buss, Nikolaus Huber, Francois Petrus Viljoen, Dee Blackhurst, Leith Carl Rodney Meyer.
A comparison of hematological, immunological and stress responses to capture and transport in wild white rhinoceros bulls (Ceratotherium simum simum) supplemented with azaperone or midazolam. 
https://doi.org/10.3389/fvets.2020.569576

Science Direct – ELSEVIER – Journal of Clinical Lipidology – 2020 
Justine Cole, Diane Mary Blackhurst, Gabriele Anna Eva Solomon, Bharati Dhanluxmi Ratanjee, Ryan Benjamin, Adrian David Marais
Atherosclerotic cardiovascular disease in hyperalphalipoproteinemia due to LIPG variants.
https://doi.org/10.1016/j.jacl.2020.12.007

ScienceDirect – ELSEVIER – Pharmacological Research - 2020
Niki Katsiki, Dimitri P. Mikhailidis, Gani Bajraktari, Andre R. Miserez, Arrigo F.G. Cicero, Eric Bruckert, Maria-Corina Serban, Erkin Mirrakhimov, Fahad Alnouri, Željko Reiner, György Paragh, Amirhossein Sahebkar and Maciej Banach on behalf of the International Lipid Expert Panel (ILEP)#.
Statin therapy in athletes and patients performing regular intense exercise – Position paper from the International Lipid Expert Panel (ILEP)
https://doi.org/10.1016/j.phrs.2020.104719

JAMA Cardiology - 2020
Representatives of the Global Familial Hypercholesterolemia Community including David Marais
Reducing the Clinical and Public Health Burden of Familial Hypercholesterolemia: A Global Call to Action.
https://doi.org/10.1001/jamacardio.2019.5173.

Archives of Medical Science - 2020
Vincent A. Pallazola, Vasanth Sathiyakumar, Jihwan Park, Rachit M. Vakil, Peter P. Toth, Mariana Lazo-Elizondo, Emily Brown, Renato Quispe, Eliseo Guallar, Maciej Banach, Roger S. Blumenthal, Steven R. Jones, David Marais, Daniel Soffer, Allan D. Sniderman, Seth S. Martin
Modern prevalence of dysbetalipoproteinemia (Fredrickson-Levy-Lees type III hyperlipoproteinemia)
https://doi.org/10.5114/aoms.2019.86972

Expert Opinion on Orphan Drugs - Volume 8 – Issue 6 - 2020
A David Marais, Dirk J Blom & Frederick J Raal
Homozygous familial hypercholesterolemia and its treatment by inclisiran
https://doi.org/10.1080/21678707.2020.1784721

ResearchGate - 2020
Reinhardt Hesse; Dieter van der Westhuizen; Jaya A George
COVID-19 Related Laboratory Analyte Changes and the Relationship between SARS-CoV-2 and HIV, TB and HbA1c in South Africa
https://doi.org/10.13140/RG.2.2.20854.01600/2

ScienceDirect – ELSEVIER – Results in Chemistry – 2020
Bianca Southon; Gareth Riley; Puleng Matatiele; Boitumelo Kgarebe
Simultaneous analysis of acetone, methyl ethyl ketone (MEK), and methyl
isobutyl ketone (MIBK) in urine by headspace gas chromatography-flame ionisation detection (HS GC-FID)

https://doi.org/10.1016/j.rechem.2020.100084

South African Journal of Child Health - 2020
Christopher Bismarck Eke, FWACPaed, M Phil; Adrian David Marais, FCPaedSA; Ronalda J De Lacy, FCPaed; Amanda J Hooper, PHD; Bharati Dhanlumi Ratanjee, B Sc; Elizabeth A Goddard, PhD
Abetalipoproteinaemia causing chronic diarrhoea in child- A case report