Baobab Index

MYO18B is an unconventional class XVII myosin that is predominantly expressed in muscle and heart tissue. Recessive pathogenic MYO18B variants cause a rare myopathy associated with Klippel-Feil syndrome (KFS), facial dysmorphism, short stature and less frequently cardiomyopathy. Reported neuromuscular manifestations were variable, with nemaline bodies observed in one patient. We report six novel patients from four families with an early onset myopathy due to biallelic MYO18B variants. Facial, axial, proximal upper and lower limb weakness was prevalent. Three patients had congenital findings including hip dislocation, reduced fetal movements and arthrogryposis with generalized hypotonia. Marked intrafamilial variability of muscle involvement was noted in two siblings. Short stature was present in three patients, ptosis and facial dysmorphisms in two, respectively. KFS was radiologically noted in one patient. Cardiac involvement was absent. Lower limb MRI revealed selective involvement of semitendinosus and tibialis anterior muscles. The clinical myopathic findings were supported in two patients by myopathic histological features including fiber size variation, type I fiber predominance and core pathology, without any detectable nemaline bodies. Our cases highlight the variable presentation and intrafamilial variability and first report selective muscle MRI involvement in this condition, adding on the limited literature on patients with MYO18B gene myopathy.

Inherited thrombophilia, particularly heterozygous Factor V Leiden (G1691A) mutation, has been linked to placental vascular complications and adverse pregnancy outcomes. However, the benefit of antenatal anticoagulation in affected women without prior venous thromboembolism remains uncertain. To assess the association between antenatal anticoagulant therapy and pregnancy outcomes in women carrying the heterozygous Factor V Leiden genotype with a history of adverse pregnancy outcomes. This case-control study included 200 pregnant women with confirmed heterozygous Factor V Leiden (G1691A) genotype. Participants were divided into two groups: those who received antenatal anticoagulation (low-molecular-weight heparin with or without low-dose aspirin; n = 100) and those who did not (n = 100). Genotyping was performed using real-time PCR and confirmed by Sanger sequencing. Pregnancy outcomes were compared, and relative risk (RR) with 95% confidence intervals (CI) calculated. Both groups were comparable in baseline characteristics, including age, body mass index, and consanguinity (p > 0.05). Normal pregnancy outcomes were significantly higher in the anticoagulated group than controls (72% vs. 24%; p < 0.001). Anticoagulation was associated with a 2.7-fold higher likelihood of a normal pregnancy outcome (RR = 2.71, 95% CI: 1.94-3.78). Among adverse outcomes, only small for gestational age was significantly reduced (p = 0.02); other outcomes showed no significant differences. Antenatal anticoagulant therapy was associated with improved pregnancy outcomes in women with heterozygous Factor V Leiden genotype. These findings support a potential benefit of prophylactic anticoagulation; however, confirmation through large prospective randomized trials is required.

The link between lipid profiles and various neuropsychiatric conditions has been studied; however, few studies have systematically pooled data to examine comparative associations between lipid components and multiple psychiatric conditions. Therefore, the current study aimed to conduct a comparative analysis of lipid components, their relationship with suicidality, and the effect of the SRGAP2 (rs2580520) polymorphism on serum lipid levels in major depressive disorder (MDD), bipolar disorder (BD), and schizophrenia (SHZ) in the Pakistani population. The rs2580520 was genotyped using the tetra-amplification refractory mutation system-PCR (TETRA-ARMS-PCR), and the CHOD/POD (Cholesterol oxidase/Peroxidase) method was used for serum lipid profiling. A significant association of the rs2580520 risk allele (C) with suicidality in MDD (p<0.01) was found. Significantly lower levels of total cholesterol (TCH), highdensity lipids (HDL), and low-density lipids (LDL) were observed in MDD, BD, and SHZ (p<0.05). However, significantly elevated total lipid (TL) levels were observed in MDD (p<0.05) and lower TL levels in BD (p<0.05) compared to controls. This study also observed significantly lower serum TCH, LDL, HDL, and TL levels in the suicidal BD group (p<0.05). The findings of this study support the hypothesis that the variation in lipid levels is associated with MDD, BD, and SHZ. The lower lipid component levels may serve as a potential biomarker of suicidality in BD, while the elevated serum TL levels may be linked to MDD. The study findings highlight the potential role of lipid component levels as biomarkers in psychiatric conditions, although further longitudinal studies are required to clarify causal relationships.

Female genital schistosomiasis (FGS) and high-risk human papillomavirus (hr-HPV) infections frequently co-occur in sub-Saharan Africa and may jointly contribute to cervical carcinogenesis. However, no existing molecular platform enables simultaneous detection of Schistosoma haematobium and hr-HPV from a single cervical specimen. A multiplex quantitative real-time PCR (qPCR) assay targeting the S. haematobium Dra1 repeat and seven hr-HPV genotypes (16, 18, 31, 33, 45, 52, 58) was developed and validated. Analytical performance was assessed using HPV reference plasmids from the International HPV Reference Centre and biobanked S. haematobium DNA from the Centre for Research in Applied Biology (CeRAB), Ghana. Clinical performance was evaluated using 217 archived cervical swabs from high-risk women enrolled in the CERVIVAL project in rural Ghana. The assay showed a limit of detection of 10 copies/µL for all targets, with no cross-reactivity to non-target HPV genotypes, common uropathogenic bacteria, or Schistosoma mansoni. In reference panels, positive and negative agreement were 98.2% and 100% for S. haematobium and 100% for both sensitivity and specificity across all hr-HPV genotypes. In the 217 high-risk cervical samples, S. haematobium DNA was detected in 56.7% (123/217). HPV58 (19.8%), HPV16 (14.7%), and HPV52 (12.4%) were the most frequent genotypes. Concordance with visual inspection/microscopy for FGS was 93.6% (κ = 0.87), and concordance with a molecular HPV test (ScreenFire HPV) ranged from 90.3% to 99.5% (κ = 0.80-0.95) across HPV channels. The assay identified 11 additional S. haematobium-positive samples that were negative by visual inspection/microscopy. The multiplex qPCR assay provides a highly sensitive and practical tool for integrated detection of S. haematobium and hr-HPV from a single cervical sample. Its compatibility with standard qPCR platforms and strong agreement with established diagnostic methods support its potential use in FGS and cervical cancer screening programmes in resource-limited, co-endemic settings.

Sphingomonas represent a significant microbial resource with considerable industrial applicability. However, non-model microorganisms often lack efficient genetic modification tools, which hinders the development of microbial cell factories. In this study, using the welan gum-producing strain Sphingomonas sp. HT-1 as an example, we developed a stable E. coli-Sphingomonas shuttle plasmid pHTK based on endogenous plasmid mining, and the transformation efficiency was enhanced more than 1000-fold by optimizing the transformation conditions. A library of sixty endogenous promoters characterized by distinct strengths and expression dynamics was established. Then, red fluorescent protein expression was successfully achieved in various Sphingomonas species, demonstrating the cross-species applicability of this genetic toolkit. To further improve welan gum synthesis through molecular weight regulation, this toolkit was employed to modulate the expression of a sphingan lyase (SpnR). We demonstrated that the timing of SpnR expression is critical for determining the molecular weight and homogeneity of welan gum. Adaptive domestication enabled S. sp. HT‑1 to efficiently utilize sugarcane bagasse hydrolysate. Expression driven by the strong, late-growth promoter P

Two Gram-negative, aerobic, motile and non-spore-forming bacilli, designated strains Marseille-QA0332

Peste des petits ruminants (PPR) is a highly contagious viral disease of small ruminants caused by the peste des petits ruminants virus (PPRV), which is classified into four distinct genetic lineages (I-IV). A critical concern is the rapid and widespread expansion of lineage IV (LIV) across West Africa over the past decade. In this study, we generated full or partial genome sequence from 26 new PPRV samples, including historical (pre-2000) and recent African LIV isolates, offering the first opportunity to investigate the evolutionary history of LIV in Africa and identify genetic events potentially associated with its recent spread. These new sequences were aligned with 141 publicly available PPRV sequences to perform phylogenomic analyses. Results reveal that the most ancestral LIV group comprises strains circulating in Sub-Saharan Africa (designated clade LIVssa), providing new evidence for an African origin of lineage IV. Our results further indicate that PPRV strains linked to the recent West African expansion of LIV belong to a specific LIVssa subclade, termed NigB. We identified multiple signatures of selection pressure within the LIVssa sublineage, particularly in the NigB subclade. Several amino acid substitutions unique to LIVssa or NigB were detected, some of which may impact protein function and warrant prioritised investigation. While additional genomic data are required to confirm the association between the NigB subclade and the ongoing spread of LIV in West Africa, this expansion is alarming and demands intensified research efforts using integrative approaches. The evolutionary adaptations observed in LIVssa could undermine current disease control strategies in regions where PPR poses significant threats to food security and local economies.

The dataset provides a complete record of microbial, functional, physicochemical, and contaminant dynamics from controlled co-composting microcosms designed to remediate petroleum refinery sludge using targeted animal manure amendments. Five treatments-cow, pig, horse, and poultry manures, as well as an unamended control-were monitored over 300 days. The study incorporated amplicon-based 16S rRNA gene sequencing, functional gene inference, culture-based validation, bulk chemistry, and chromatographic analyses. Illumina MiSeq profiling of the V1-V3 regions identified 359 bacterial genera (raw OTU-level assignments prior to quality and abundance filtering) across 17 phyla, with taxonomic inventories structured from phylum to genus. Alpha and beta diversity measures demonstrated treatment-dependent community assembly, with the highest richness and diversity observed in cow-manure microcosms-pig and poultry amendments selectively enriched hydrocarbon-degrading taxa, including

Posttraumatic stress disorder (PTSD) is a common and debilitating mental health disorder. In contexts with high levels of trauma exposure, such as South Africa, it is crucial to understand the way in which PTSD symptoms manifest. The present study examined the latent class structure of PTSD symptoms in a large sample of South Africans. Latent class analysis (LCA) was performed to identify patterns of DSM-5 PTSD symptoms in a sample of 477 trauma-exposed South African adults. Subsequent multinomial logistic regression was conducted to assess sociodemographic and clinical predictors of class membership. LCA revealed a four-class solution: (1) a low PTSD symptom class (24.7%), (2) a moderate PTSD symptom class (18,4%), (3) an avoidance/hyperarousal PTSD symptom class (24.7%) and (4) a high PTSD/high negative mood and cognitions symptom class (32.1%). Multinomial logistic regression analyses revealed distinctions between classes in PTSD diagnosis, anxiety symptoms, depressive symptoms, functional impairment and education level. Findings have implications for identifying subgroups of individuals with unique patterns of PTSD symptoms in South Africa and informing interventions in accordance with an individual's particular symptom profile.

The COVID-19 pandemic exposed profound weaknesses in global infectious disease surveillance yet, in its aftermath, pandemic-prone threats have intensified rather than receded. This narrative review synthesizes contemporary evidence on three converging drivers of pandemic risk zoonotic emergence, antimicrobial resistance, and climate-sensitive disease expansion and examines how structural failures in surveillance and global health governance amplify their impact. Drawing on recent epidemiological analyses, policy reports, and One Health evaluations, the review maps post-COVID surges in zoonotic outbreaks, drug-resistant infections, and vector and water-borne diseases, and links these trends to fragmented laboratory networks, inequitable genomic capacity, and weak integration across human, animal, and environmental systems. It further interrogates the geopolitical and socioeconomic determinants of vulnerability, including conflict-related surveillance collapse, vaccine inequity, and the political economy of pandemic financing. Emerging digital tools from AI-enabled forecasting to wastewater and social media surveillance are assessed not only for their technical promise but also for risks related to data bias, extractives, and governance gaps. The review argues that without redistributive investment in One Health integration, regional genomic platforms, community-based surveillance, and enforceable IHR-based accountability, the world will continue to detect converging threats late and respond inequitably, leaving pandemic preparedness structurally fragile in the post-COVID era.