Baobab Index

Periodontal disease has been associated with adverse pregnancy outcomes, but evidence regarding the association between psychoactive substance use and periodontal pathogens during pregnancy remains limited, particularly in low-resource settings. This study examined the association between psychoactive substance use and salivary periodontal pathogen levels among pregnant women in rural Rwanda. This cross-sectional study was a secondary analysis of baseline data from a pregnancy cohort conducted in 2019 at a district hospital in Rwanda. A total of 178 pregnant women participated. Demographic characteristics, oral health behaviors, and psychoactive substance use were assessed using structured questionnaires. Salivary DNA copy numbers of four periodontal pathogens were quantified by quantitative real-time polymerase chain reaction, and associations were evaluated using multivariable generalized linear models. Women with a history of alcohol consumption before pregnancy had significantly higher levels of Tannerella forsythia than women who had never consumed alcohol (fold change 4.78, p = 0.006). Women with a history of drug use before pregnancy had significantly lower levels of Prevotella intermedia (fold change 0.29, p = 0.011), while women with a history of dental visits had significantly lower levels of Porphyromonas gingivalis (fold change 0.04, p = 0.014). These findings suggest that pre-pregnancy lifestyle factors and oral health behaviors are associated with the maternal oral microbial environment during pregnancy. However, because of the cross-sectional design, causal relationships and their potential implications for maternal and pregnancy outcomes could not be determined. Further longitudinal and mechanistic studies are warranted to clarify these associations and their potential clinical significance.

Rwanda has experienced recurrent Rift Valley fever virus outbreaks in the last decade. In this study, we investigated whether these outbreaks resulted from repeated introductions or sustained local circulation. We generated RVFV whole-genome sequences from livestock samples collected between 2022 and 2025 using Nanopore sequencing. Genomic analyses indicated the outbreaks resulted from sustained local circulation of lineage C rather than repeated introductions, suggesting ongoing transmission likely driven by sporadic spillover. This study underscores the importance of continuous genomic One Health surveillance in endemic settings.

Water availability is the most limiting factor for global agricultural productivity. Rain-fed smallholder farming common to sub-Saharan Africa is particularly sensitive to unpredictable precipitation patterns and periods of drought - issues that are projected to be exacerbated by ongoing climate change. Common bean (Phaseolus vulgaris) is widely cultivated in East Africa and represents an important source of protein, carbohydrates, micronutrients and income for smallholder agriculture. Bean water-use traits and productivity responses to water limitation are thus of great importance. In this study we sought to investigate the genetic variation of water-use traits and responses to terminal drought among Rwandan landraces and improved cultivars of common bean. Eighteen landraces and twelve improved cultivars were cultivated under realistic field conditions and evaluated for physiological traits related to water use, phenological properties, and effects of terminal drought treatment. Considerable genetic variation was detected across landraces and improved cultivars for all investigated traits. There was a strong negative correlation between yield and intrinsic water-use efficiency. High yielding cultivars demonstrated low water-use efficiency. There was, however, also notable variation in this relationship, with some cultivars combining water-conserving properties and high productivity. Phenological data indicated a positive relationship between productivity and time to maturity. The lack of a consistent association between water-use traits and drought responses demonstrates that traits for drought avoidance and tolerance are genetically distinct and regulated separately. Our results demonstrate a large degree of genetic variation and highlight the possibility of combining traits for water economy and drought tolerance while maintaining yield in common bean. The contrasting genotypes reported in this study could be used for genetic mapping of genomic regions and cultivars combining high grain yield with moderate water use and moderate tolerance to drought are suggested for future breeding efforts.

Enterobacter species are important nosocomial pathogens, mainly due to multidrug resistance (MDR). This study reports the whole-genome sequences of Enterobacter cloacae H5 and Enterobacter bugandensis H6. Digital DNA-DNA hybridization (dDDH) confirmed species identity: H5 (91.8% with E. cloacae ATCC 13047) and H6 (89.3% with E. bugandensis EB-247). H5 has 46 contigs, 4,867,245 bp, GC 54.97%; H6 has 27 contigs, 4,616,569 bp, GC 56.05%. Phylogenetic analysis grouped H5 within E. cloacae and H6 within E. bugandensis. Both genomes harbor multiple antimicrobial resistance (AMR) genes. H5 includes β-lactamase CMH-16, FosA2, efflux pumps (oqxA, emrB), and regulators (ramA, baeR, baeS). H6 includes β-lactamase ACT-146, FosA2, efflux pumps (oqxA, emrB, msbA), regulators (baeR, baeS), and target modification gene ArnT. These genomes highlight the clinical significance of these strains and provide essential resources for understanding the genomic basis of antimicrobial resistance in Sudanese Enterobacter isolates.

Gitelman syndrome (GS) is a rare autosomal recessive renal tubulopathy caused by SLC12A3 gene mutations, leading to hypokalemia, metabolic alkalosis, hypomagnesemia, and hypocalciuria. Its estimated prevalence ranges from 1 to 10 per 40 000 individuals worldwide, with a carrier frequency approaching 1%, underscoring its potential public health relevance despite underdiagnosis. This case highlights a rare presentation of GS with acute quadriparesis mimicking neurological emergencies, emphasizing the risk of misdiagnosis in acute care settings. A 30-year-old female presented with acute-onset fever, vomiting, and progressive quadriparesis. Examination revealed flaccid paralysis (power: 2/5), areflexia, and bulbar weakness. Critical biochemical findings included severe hypokalemia (K This case demonstrates an intercurrent illness that precipitated acute decompensation in previously undiagnosed GS, leading to profound weakness mimicking Guillain-Barré syndrome, periodic paralysis and Bartter syndrome. The key to diagnosis lies in recognizing the distinctive biochemical triad of hypokalemia, hypomagnesemia, and hypocalciuria with renal potassium wasting. Although genetic testing for SLC12A3 mutations remains the diagnostic gold standard, it is often unavailable in resource-limited settings, making biochemical recognition crucial. GS is a great mimicker that can present with acute severe paralysis. Clinicians must include it in the differential for unexplained hypokalemia and metabolic alkalosis, as prompt recognition and management with magnesium and potassium supplementation are crucial to prevent life-threatening arrhythmias, recurrent paralysis and reduce long-term morbidity.

Gene-disease relationship (GDR) is a key concept in monogenic disease diagnostics. Although functional analysis and disease modeling play important supporting roles, human genetics evidence remains key to supporting or challenging a proposed GDR. Such evidence typically comes from individual publications that address one GDR at a time. We hypothesized that a large cohort composed primarily of Mendelian phenotypes and enriched for consanguinity and founder effect can accelerate evidence generation by enabling high-throughput discovery of homozygous loss-of-function (LOF) variants as well as strong segregation data. To test this hypothesis, we analyzed our Lifera Omics Database (LODB) for homozygous high-impact missense variants that are observed in 2 or more unrelated individuals to exploit the power of founder variants, as well as homozygous presumptive LOF variants. The search spanned 2904 genes with tentative GDRs in the literature. The analysis revealed 154 individuals with 119 homozygous LOF variants that support GDRs for 95 genes. Additionally, we identified 13 founder missense variants (33 homozygous individuals) that support GDR for 13 genes. Our data expand the mode of inheritance (MOI) of 19 genes for which the tentative GDRs were based on dominant variants. Phenotypic expansion was encountered in 18 of the supported GDRs, including those in which the full syndromic constellation has not been previously delineated. We also report four novel allelic disorders of reported GDRs. This work highlights the potential of diagnostic laboratories to accelerate GDR refinement through data sharing and working closely with referring physicians. It also showcases the added advantage concerning autosomal recessive GDR when the study population is enriched for consanguinity and founder effect.

Stem cell-based therapies for movement disorders show inconsistent translation due to variations in product characterisation, delivery, endpoints, safety, and follow-up. Regulatory guidance provides principles but lacks a unified trial framework. The objective was to create a practical framework that translates scientific, regulatory, manufacturing, ethical, and clinical expectations into an auditable pre-First Patient In (FPI) checklist for stem cell trials. A structured review of the literature, clinical trials, and guidance documents was conducted. Searches were performed in PubMed/MEDLINE, Embase, Google Scholar, and clinical trial registries, including ClinicalTrials.gov, Japan Registry, European Union Register, and Clinical Trials Registry-India, until January 2026. Key guidance documents from the FDA, EMA, ICH, ISSCR, and selected PMDA sources were reviewed. Recurring requirements related to nonclinical evidence, manufacturing quality, ethics, trial design, safety, and follow-up were identified and translated into auditable pre-FPI checklist items. A framework was developed, structured as a universal Core Gate plus three risk-proportionate modules: Module A for pluripotent-derived neural grafts, Module B for somatic neural grafts, and Module C for mesenchymal stromal cell/secretome approaches. The Core Gate outlines the minimum pre-FPI requirements across preclinical justification, GMP release documentation, regulatory and ethics readiness, patient selection, trial design, safety oversight, trial conduct, long-term follow-up, and transparency. The modules add platform-specific requirements according to biological and procedural risks, including tumourigenicity and genomic stability assessment, immunologic monitoring, and route-appropriate biodistribution and persistence expectations. Movement disorder-specific operational elements not defined in general guidance were also incorporated, including harmonised baseline phenotyping, disease-specific endpoint menus, practical imaging and biomarker options. This framework turns fragmented guidance into a practical, auditable pre-FPI roadmap for stem cell trials in movement disorders. By combining a universal Core Gate with risk-proportionate modules, it aims to reduce protocol heterogeneity, improve cross-trial comparability, strengthen regulatory planning, and support safer, interpretable clinical translation.

Mucopolysaccharidosis should be suspected in patients presenting with multisystem involvement, including coarse facial features, skeletal abnormalities, and progressive organ dysfunction, particularly in resource-limited settings where delayed diagnosis is common. Early clinical recognition is crucial, as timely diagnosis can facilitate appropriate supportive care, genetic counseling, ultimately improving quality of life.

Haematologic malignancies have diverse and complex genomic abnormalities, and the correct identification is essential for making the appropriate diagnosis, providing a prognosis, and planning treatment. Improved array comparative genomic hybridisation (array CGH) can provide high-resolution, genome-wide copy number variation detection, and overcomes conventional cytogenetic limitations. The aim of this study is to determine the role of array CGH in characterising genomic aberrations of haematologic malignancies, focusing on technical advantages, added diagnostic values, and implications for disease reclassification and precision medicine. A comprehensive literature search of PubMed, Embase, Web of Science, and Scopus was conducted to identify studies evaluating the diagnostic performance and clinical utility of array CGH in haematologic cancers. Array CGH detects genomic alterations at kilobase-level resolution and reveals additional abnormalities in approximately 30% of cases with normal results by conventional cytogenetics. It improves molecular subtyping, identifies novel prognostic marker and, when combined with single nucleotide polymorphism arrays, enables detection of uniparental disomy and copy-neutral loss of heterozygosity, thereby enhancing diagnostic yield. Array CGH detects up to 90% of known genomic abnormalities in haematologic malignancies, and its integration with other genomic platforms will considerably enhance diagnostic precision and clinical care for haematopoietic neoplasms. This review emphasises the important role of array CGH's greater sensitivity to clinically relevant copy number changes compared to routine cytogenetics. Clinical applications of array CGH support precision oncology, especially when combined with single nucleotide polymorphism array or next-generation sequencing technologies.