Baobab Index

Primary hyperoxaluria (PH) is a rare autosomal recessive disease characterized by an excess of oxalate, which results in nephrolithiasis, nephrocalcinosis, and ultimately, renal failure and systemic oxalosis. There are 3 forms of PH, named types 1, 2, and 3, caused by variants in the We analyzed 132 patients referred over 10 years for PH using a stepwise strategy. A step 1 test involved Sanger sequencing of exon 7 of the First-line Sanger sequencing identified biallelic pathogenic or likely pathogenic AGXT variants in 95 of 132 patients suspected of PH, corresponding to a diagnostic yield of 72%. Additional molecular diagnoses obtained through targeted PH panel sequencing and WES increased the final cumulative diagnostic yield to 78%. Twelve distinct variants were characterized by Sanger sequencing, with the c.731T>C in exon 7 of the These results highlight the need for a simplified, exon-focused diagnostic strategy, particularly in resource-limited settings like Morocco.

Class switch recombination (CSR) is a fundamental mechanism of humoral immunity that enables activated B lymphocytes to switch from the expression of IgM to other immunoglobulin isotypes, such as IgG, IgA, or IgE, thereby changing the effector functions while preserving antigen specificity. Traditionally, CSR has been considered a late event in B-cell differentiation, occurring predominantly in germinal centers following antigen encounter and activation-induced cytidine deaminase (AID) expression. In this classical model, B-cell development in the bone marrow is largely separated from antigen-dependent antibody diversification in peripheral lymphoid organs. However, transcriptomic, epigenomic, and functional studies suggest that several molecular components and regulatory features associated with CSR may already emerge during early stages of B-cell ontogeny. Evidence from mouse models and molecular studies indicates that immature and transitional B cells can express low levels of AID, while transcriptional and regulatory features linked to CSR may already be established before antigen-driven B-cell activation. In this review, we first summarize the classical process of CSR, including the molecular events and requirements necessary for its activation in mature B cells. We then discuss evidence indicating that components and regulatory features associated with CSR can emerge during early B-cell development. Furthermore, we examine how transcriptional regulation and enhancer activity within the IgH locus may contribute to the establishment of these features throughout ontogeny. Finally, we discuss the potential biological implications of early CSR-associated molecular activity for immune repertoire formation, central tolerance, genomic integrity, and B-cell malignancies.

HIV-1 infection in children remains a major public health challenge, particularly in resource-limited settings where access to antiretroviral therapy (ART) and routine virological monitoring is limited. The emergence of HIV-1 drug resistance mutations (DRMs) compromises treatment efficacy and threatens long-term therapeutic outcomes. A systematic literature review was conducted using PubMed and Scopus to identify studies published from 2014 onward reporting HIV-1 genotypic resistance profiles in children receiving ART. Eligible studies included original research using Sanger sequencing or next-generation sequencing (NGS). Due to substantial methodological heterogeneity in study design, sequencing approaches, patient populations, and outcome reporting, a meta-analysis was not performed. The review therefore provides a narrative synthesis of resistance patterns and subtype distribution. Included studies involved children aged 2.1-16 years and sample sizes ranging from 3 to 1080 participants. Resistance mutations were most frequently observed in the NNRTI and NRTI classes, particularly K103N and M184V, whereas protease inhibitor and integrase inhibitor resistance remained less common. HIV-1 subtype distribution showed marked geographic variation, with CRF01_AE predominating in Asia, subtype C in Southern Africa, CRF02_AG and CRF06_cpx in West Africa, and subtype B in Europe and the Americas. These findings highlight the substantial burden of pediatric HIV-1 drug resistance and the need for strengthened surveillance and optimized region-specific treatment strategies.

Niemann-Pick disease types A and B (NPD-A, NPD-B) are lysosomal storage disorders caused by acid sphingomyelinase (ASM) deficiency, leading to sphingomyelin (SM) accumulation. NPD-A presents with rapidly progressive neurodegeneration in infancy, whereas NPD-B spares the nervous system. This study aimed to define the biochemical profile of Moroccan patients, delineate the Genetic and biochemical investigations were performed to identify Five patients were diagnosed with ASM deficiency (ASMD) using this integrated approach. TLC analysis revealed abnormal urinary sphingomyelin patterns, providing an early biochemical orientation toward the diagnosis. Enzymatic assays confirmed reduced ASM activity, and molecular analysis identified two pathogenic This study proposes a practical diagnostic workflow adapted to a resource-limited setting and provides new insights into the

Gene expression analysis using RT-qPCR is a widely used approach in breast cancer research. However, the reliability of this technique is fundamentally dependent on accurate data normalization using reliable reference genes. In this study, we aimed to find stable reference genes in breast tumors and normal adjacent tissues. The expression of ten candidate reference genes (ACTB, GAPDH, GUSB, HNRNPL, PCBP1, PPIA, PUM1, RER1, TBP, and 18 S rRNA) was investigated using RT-qPCR on 20 breast tissue samples (13 tumors and 7 normal adjacent tissues). Gene expression stability was analyzed using the RefFinder tool, including BestKeeper, NormFinder, geNorm, and comparative ΔCt algorithms. TBP, PUM1, and RER1 were classified as the most stable reference genes with close stability rankings according to the comprehensive RefFinder analysis (geomean of 2.21, 2.34, and 2.78, respectively). In contrast, ACTB and GAPDH, the traditional "housekeeping genes", consistently ranked as the least stable reference genes across all algorithms. TBP, PUM1, and RER1 exhibited high potential as reference genes for RT-qPCR normalization in breast tumors and normal adjacent tissues. Further validation on a larger scale is required.

Emergence of antimicrobial resistance (AMR) is a critical public health issue. The unregulated use of antibiotics in some regions of Sub-Saharan Africa make AMR emergence a prominent problem. Complex human-animal interfaces in these regions are hypothesized to create opportunities to transmit AMR, both in the form of resistant bacteria and mobile genetic elements carrying antibiotic resistance genes (ARGs). However, assessing the spread of ARGs into wildlife populations is complicated by naturally occurring resistance. Here, we use a longitudinal approach to explore whether the widespread use of antimicrobial compounds in West Africa was accompanied by an increase of ARGs in wild chimpanzees (Pan troglodytes verus) in Taï National Park (TNP), Côte d'Ivoire, the largest remaining piece of primary rainforest in West Africa. We analyzed 410 fecal samples from three groups collected over 17 years using hybridization capture and high-throughput sequencing to screen for over 2000 ARGs. Both ARG abundance and the diversity of AMR classes increased. Results provide clear evidence of an increase of ARGs in this remote wild chimpanzee population during a period when ARGs increased regionally and across the globe.

Aquaponics combines aquaculture and hydroponics, offering an integrated and sustainable food production system. This study investigated the probiotic properties, plant growth-promoting (PGP) activity, and nitrifying capacity of twelve lactic acid bacteria (LAB) strains isolated from an aquaculture farm environment on the Ivory Coast for their potential application in aquaponic systems. All isolates demonstrated antagonistic activity against key pathogenic indicator strains, except

People living with HIV (PLHIV) are at increased risk of liver and kidney dysfunction due to chronic HIV infection, long-term antiretroviral therapy (ART), and persistent immune activation. However, age-related differences in organ function and treatment outcomes remain insufficiently characterized in African settings. This study aimed to assess age-related differences in liver and renal function among PLHIV in Ghana to identify patterns of organ dysfunction across different age groups. This multicenter cross-sectional study included 558 PLHIV aged 10-76 years receiving ART, of whom 96.4% were on dolutegravir-based regimens. Renal function was assessed using serum urea, creatinine, urea-to-creatinine ratio, and estimated glomerular filtration rate (eGFR). Liver function was assessed using AST/ALT ratios, hepatotoxicity grading, and fibrosis indices (APRI, FIB-4), while virologic outcomes were assessed using HIV viral load measurements. A composite renal-hepatic-virologic abnormality score was developed based on reduced kidney function (eGFR < 60 mL/min/1.73 m