Publications by authors named "Botha J"

During the Late Permian, saber-toothed gorgonopsian therapsids were the dominant terrestrial predators, playing crucial roles as apex predators alongside therocephalian therapsids within Permian terrestrial ecosystems. The entire gorgonopsian clade went extinct during the Permo-Triassic mass extinction, leaving other therapsids to continue into the Triassic. Gorgonopsians have not been well studied, particularly in terms of their growth patterns, with only a few genera having undergone osteohistological analysis.

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Environmental and climatic factors, as well as host demographics and behaviour, significantly influence the exposure of herbivorous mammalian hosts to pathogens such as Bacillus anthracis, the causative agent of anthrax. Until the early 1990s in Kruger National Park (KNP), kudu (Tragelaphus strepsiceros) was the host species most affected by anthrax, with outbreaks occurring predominantly in the dry season, particularly during drought cycles. However, the most affected host species has shifted to impala (Aepyceros melampus), with more frequent anthrax outbreaks during the wet season.

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Orthosuchus stormbergi was a small-bodied crocodyliform, representative of a diverse assemblage of Early Jurassic, early branching crocodylomorph taxa from the upper Elliot Formation of South Africa. The life history of these early branching taxa remains poorly understood, with only sparse investigations into their osteohistology, yet species like Orthosuchus have potential to inform about the macroevolution of growth strategies on the stem leading to crown crocodilians. In order to elucidate the growth patterns of Orthosuchus, we used propagation phase contrast X-ray synchrotron micro-computed tomography to virtually image the osteohistology of the postcrania of two specimens, including multiple elements from the type (SAM-PK-K409), and the femur of a referred specimen (BP/1/4242).

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The goal of this study is to test a novel device and methodology based on the "Pebble" platform and real-time quantitative colorimetric loop-mediated isothermal amplification (qcLAMP) during SARS-CoV-2 detection using crude samples and extracted RNA. The new method employs an inexpensive lightweight device aimed toward rapid point-of-care testing. An extensive evaluation was performed consisting of 1,693 clinical samples across five independent clinical testing centers.

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Purpose: This study investigated the relationship between mucopolysaccharidosis II (MPS II) iduronate-2-sulfatase gene (IDS) variants and phenotypic characteristics, particularly cognitive impairment, using data from the Hunter Outcome Survey (HOS) registry.

Methods: HOS data for male patients (n = 650) aged ≥5 years at latest cognitive assessment with available genetic data were analyzed. Predefined genotype categories were used to classify IDS variants and report phenotypic characteristics by genotype.

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Jennifer Botha.

Curr Biol

August 2024

Interview with Jennifer Botha, who studies the life history responses of extinct vertebrates to extreme environmental changes and is the Director of GENUS at the University of the Witwatersrand, South Africa.

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Background And Objectives: Treatment with agalsidase alfa in patients with Fabry disease is most effective when initiated early in the disease course; however, the clinical benefits in elderly patients are less well established. This analysis assesses outcomes in patients aged 65 years or older from the Fabry Outcome Survey (FOS) who were treated with agalsidase alfa.

Methods: FOS data were extracted for adult patients aged 65 years or older who received agalsidase alfa, had baseline data and at least 3 years of post-baseline data, and had undergone no renal transplantation and/or dialysis before treatment.

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Therocephalia are an important clade of non-mammalian therapsids that evolved a diverse array of morphotypes and body sizes throughout their evolutionary history. The postcranial anatomy of therocephalians has largely been overlooked, but remains important towards understanding aspects of their palaeobiology and phylogenetic relationships. Here, we provide the first postcranial description of the large akidnognathid eutherocephalian by examining multiple specimens from fossil collections in South Africa.

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The intracellular pathogens Toxoplasma gondii, Brucella spp., and Chlamydia spp. are all known causative agents of abortion in wildlife.

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Background: In the United States, no published guidelines promote exposure to technical variants (ie, living donor or split liver) during transplant fellowship. Simulation with hands-on liver models may improve training in transplantation. This pilot study addressed 3 overall goals (material and model creation tools, recruitment rates and assessment of workload, and protocol adherence).

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We present Full SMS, a multipurpose graphical user interface (GUI)-based software package for analyzing single-molecule spectroscopy (SMS) data. SMS typically delivers multiparameter data-such as fluorescence brightness, lifetime, and spectra-of molecular- or nanometer-scale particles such as single dye molecules, quantum dots, or fluorescently labeled biological macromolecules. Full SMS allows an unbiased statistical analysis of fluorescence brightness through level resolution and clustering, analysis of fluorescence lifetimes through decay fitting, as well as the calculation of second-order correlation functions and the display of fluorescence spectra and raster-scan images.

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Background: In the paediatric liver transplant programme in Johannesburg, South Africa (SA), tacrolimus is the calcineurin inhibitor of choice, comprising an essential component of the immunosuppression regimen. It is characterised by a narrow therapeutic index and wide interpatient variability, necessitating therapeutic drug monitoring of whole-blood concentrations. Pharmacogenetic research, although not representative of SA population groups, suggests that single-nucleotide polymorphisms within the cytochrome P450 3A5 (CYP3A5) gene contribute to the variability in tacrolimus dosing requirements.

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Long-term patient registries are important for evaluating treatment outcomes in patients with rare diseases, and can provide insights into natural disease history and progression in real-world clinical practice. Initiated in 2010, the Gaucher Outcome Survey (GOS) is an ongoing, international, multicenter, observational registry (ClinicalTrials.gov Identifier: NCT03291223) for patients with a diagnosis of Gaucher disease (GD), irrespective of treatment type or status, with a primary objective to monitor safety and long-term effectiveness of velaglucerase alfa.

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: Gaucher disease (GD) is a rare, autosomal, recessive condition characterized by hepatosplenomegaly, thrombocytopenia, anemia, and bone abnormalities, often requiring life-long treatment. Velaglucerase alfa has improved hematologic and visceral parameters in clinical trials; however, limited long-term efficacy and safety data are available. : The Gaucher Outcome Survey (GOS), a structured and validated international registry for patients with confirmed GD, provides an opportunity to evaluate long-term data from patients receiving velaglucerase alfa.

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Article Synopsis
  • The black-faced cormorant, an Australian seabird, has limited research on its foraging habits and habitat use, which is critical due to concerns over ocean warming in its primary range.
  • The study utilized regurgitated food samples and GPS data loggers to analyze the diet and foraging behavior of these birds while raising chicks from 2020 to 2023 on Notch Island.
  • Results showed that most prey was benthic, with males diving deeper than females, leading to different foraging areas; this sexual segregation may impact species management and reproductive success amidst environmental changes.
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Background: The discontinuation of "Mother-Baby Friendly" accreditation, coupled with the impact of the COVID-19 pandemic, has contributed to reduced breastfeeding rates observed in parts of South Africa. Consequently, the Child, Youth and School Health cluster of the National Department of Health, with support from the World Health Organization and United Nations Children's Fund, organised a Mother-Baby Friendly initiative revitalisation workshop.

Methods: Held in Johannesburg, South Africa, on June 29-30, 2022, the workshop brought together local and international breastfeeding promotion experts to engage on issues related to the revitalisation of the Mother-Baby Friendly Initiative.

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Introduction: Purified factor IX (FIX) concentrate (IMMUNINE, Takeda Manufacturing Austria AG, Vienna, Austria) is indicated for the treatment and prophylaxis of bleeding episodes in patients with congenital hemophilia B. Data on the use of purified FIX concentrate in patients ≤6 years old with congenital hemophilia B are limited.

Aim: Document real-world clinical experience with purified FIX concentrate in routine practice for pediatric patients with hemophilia B.

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Article Synopsis
  • The study investigates the levels of HIV RNA and cytokines in adolescents who have been on antiretroviral treatment (ART) since early in life, focusing on potential indicators for clinical trials aimed at finding a cure for HIV.
  • It enrolled 40 perinatally infected adolescents on ART for over 5 years, measuring various HIV markers and correlating them with clinical characteristics.
  • Results show that lower levels of cell-associated RNA (CA-RNA) are linked to lower levels of cell-associated DNA (CA-DNA), and that undetectable CA-RNA is associated with factors like earlier initiation of ART and higher Western Blot scores.
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Phycobilisomes (PBs) play an important role in cyanobacterial photosynthesis. They capture light and transfer excitation energy to the photosynthetic reaction centres. PBs are also central to some photoprotective and photoregulatory mechanisms that help sustain photosynthesis under non-optimal conditions.

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Background: Children are removed from the liver transplant waitlist because of death or progressive illness. Size mismatch accounts for 30% of organ refusal. This study aimed to demonstrate that 3-dimensional (3D) technology is a feasible and accurate adjunct to organ allocation and living donor selection process.

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Mucopolysaccharidosis II (MPS II) is a rare, life-limiting lysosomal storage disease caused by reduced iduronate-2-sulfatase activity. Patients experience broad ranging signs and symptoms, including bone and joint manifestations. This study reported on orthopedic involvement and management in patients with MPS II using 15 years of data from the Hunter Outcome Survey (HOS).

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Approximately two-thirds of patients with mucopolysaccharidosis II (MPS II; Hunter syndrome) have neuronopathic disease, with central nervous system involvement; one-third have non-neuronopathic disease. This analysis of data from the Hunter Outcome Survey (HOS) compared the clinical manifestations and surgical and nonsurgical procedure history in patients with neuronopathic or non-neuronopathic MPS II. Prospective patients were identified in July 2018 in HOS for inclusion in this analysis as those with stable cognitive impairment status as assessed at 10 years of age and at a minimum of one follow-up visit at 11 to <20 years of age.

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Background: Although the prevalence of attention deficit hyperactivity disorder (ADHD) has remained stable, the number of patients diagnosed with ADHD has increased in recent years owing to increased awareness. Despite this increase, medical schemes in South Africa have not improved their funding models for this condition.

Aim: The study aimed to provide an account of the funding that medical schemes provisioned for treating ADHD in South Africa during 2022.

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Modern HIV-1 treatment effectively suppresses viral amplification in people living with HIV. However, the persistence of HIV-1 DNA as proviruses integrated into the human genome remains the main barrier to achieving a cure. Next-generation sequencing (NGS) offers increased sensitivity for characterising archived drug resistance mutations (DRMs) in HIV-1 DNA for improved treatment options.

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Pharmaceutical companies subject all new molecular entities to a series of in vitro metabolic characterizations that guide the selection and/or design of compounds predicted to have favorable pharmacokinetic properties in humans. Current drug metabolism research is based on liver tissue predominantly obtained from people of European origin, with limited access to tissue from people of African origin. Given the interindividual and interpopulation genomic variability in genes encoding drug-metabolizing enzymes, efficacy and safety of some drugs are poorly predicted for African populations.

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