Baobab Index

Hereditary breast cancer accounts for approximately 5 to 10% of all breast cancer cases. Mutations in the A narrative literature review was conducted using biomedical databases (PubMed, Scopus, Web of Science, Google Scholar) between January 2024 and June 2025. Eligible publications addressed the genetic, biological, epidemiological, and clinical aspects of A comprehensive understanding of Le cancer du sein héréditaire représente environ 5 à 10 % de l'ensemble des cancers du sein. Les mutations du gène BRCA1, impliqué dans la réparation de l'ADN et la régulation du cycle cellulaire, constituent la principale cause de ces formes familiales. Elles sont particulièrement associées aux cancers agressifs, notamment au cancer du sein triple négatif. Une revue narrative de la littérature a été menée à partir des bases de données biomédicales (PubMed, Scopus, Web of Science, Google Scholar) entre janvier 2024 et juin 2025. Les publications retenues concernaient les aspects génétiques, biologiques, épidémiologiques et cliniques de BRCA1 dans le cancer du sein héréditaire. Le gène BRCA1 joue un rôle central dans la stabilité génomique à travers la réparation de l'ADN, le contrôle du cycle cellulaire et la régulation transcriptionnelle. Les mutations, principalement tronquantes ou faux-sens, varient selon les populations et certaines sont décrites comme mutations fondatrices (ex. c.68_69delAG, c.5266dupC, 943ins10). Les femmes porteuses présentent un risque cumulé de 56–87 % de développer un cancer du sein, avec une forte association aux sous-types moléculaires agressifs, en particulier le cancer triple négatif. La compréhension des mutations de BRCA1 est essentielle pour améliorer la prévention, le dépistage et la prise en charge personnalisée du cancer du sein héréditaire. Dans les contextes à ressources limitées, l'intégration des tests génétiques et du conseil adapté constitue un enjeu majeur pour réduire les inégalités en santé.

The spread of the transferable optrA gene poses an increasing threat to the clinical efficacy of oxazolidinones. Here, we characterized a novel optrA-carrying plasmid, pEfa-optrA-Arg, from a linezolid-resistant Enterococcus faecalis clinical isolate from Argentina. The 68,653-bp conjugative plasmid harbored optrA together with multiple antimicrobial resistance genes and showed high similarity to a plasmid previously identified in a bovine isolate from Switzerland. pEfa-optrA-Arg, or a closely related variant, was also detected in E. faecalis isolates from several Argentinian hospitals, highlighting the role of horizontal gene transfer in the spread of antimicrobial resistance across human and animal reservoirs within the One Health continuum.

The existence of reliable mtDNA reference sequences for each species is of great relevance in a variety of fields, from phylogenetic and population genetics studies to pathogenetic determination of mtDNA variants in humans or in animal models of mtDNA-linked diseases. We present compelling evidence for the existence of sequencing errors on the current mouse mtDNA reference sequence. This includes the deletion of a full codon in two genes, the substitution of one amino acid on five occasions and also the involvement of tRNA and rRNA genes. The conclusions are supported by: (i) the re-sequencing of the original cell line used by Bibb and Clayton, the LA9 cell line, (ii) the sequencing of a second L-derivative clone (L929), and (iii) the comparison with 12 other mtDNA sequences from live mice, 10 of them maternally related with the mouse from which the L cells were generated. Two of the latest sequences are reported for the first time in this study (Balb/cJ and C57BL/6J). In addition, we found that both the LA9 and L929 mtDNAs also contain private clone polymorphic variants that, at least in the case of L929, promote functional impairment of the oxidative phosphorylation system. Consequently, the mtDNA of the strain used for the mouse genome project (C57BL/6J) is proposed as the new standard for the mouse mtDNA sequence.

Pregnancy provides a unique physiological stress test for the cardiovascular system, during which, adverse pregnancy outcomes (APOs) can unmask latent susceptibility to future disease. Common complications, including hypertensive disorders of pregnancy (HDP), gestational diabetes, and preterm birth (delivery before 37 weeks' gestation), identify women at substantially higher long-term risk of cardiovascular morbidity and mortality compared with women without a history of APOs. These excess risks likely reflect the combined effects of pre-existing cardiometabolic and genetic susceptibility, as well as the haemodynamic and metabolic stressors of pregnancy, heralding accelerated risk factor trajectories, relative impairment in endothelial and microvascular function, and early disease onset. This final Review in the Series extends the focus from cardiovascular disease during pregnancy and HDP to the long-term cardiovascular implications of APOs after delivery. We synthesise epidemiological data quantifying cardiovascular risk across major APO phenotypes and emerging evidence linking maternal APO history with cardiometabolic risk trajectories in offspring. We also delineate putative mechanistic pathways and summarise guidelines and consensus-informed recommendations for short-term and long-term follow-up after APOs. Finally, we propose practical approaches for integrating APO history into cardiovascular disease risk assessment and guideline-directed prevention across the female life course. We highlight key knowledge gaps, including uncertainty about optimal follow-up models, the limitations of current risk-stratification tools, and the absence of APO-specific prevention trials. We also outline priorities for mechanistic and implementation research. Positioning APOs as early, sex-specific indicators of cardiovascular risk offers a key window of opportunity to shift prevention upstream and improve cardiovascular health outcomes for women.

Tuberculosis (TB) remains one of the leading causes of death from a single infectious agent worldwide, with timely diagnosis continuing to be a major challenge, particularly in resource-limited settings. Conventional TB diagnostic methods are limited by low sensitivity, long turnaround times, and an inability to reliably differentiate latent from active disease. Biomarker-based diagnostic strategies have therefore gained increasing attention as they offer the potential to improve early detection, disease differentiation, and treatment monitoring. Herein, we examine electrochemical biosensing strategies for TB diagnostics using a biomarker-class-driven framework, covering host-response biomarkers (IFN-γ and TNF-α), pathogen-derived antigens (ESAT6, CFP10, CFP10-ESAT6, MPT64, Ag85, HspX and LpqH), cell-wall signatures and whole-cell markers (LAM and whole cell Mtb), and genomic markers (Mtb DNA and IS6110). Through structured comparison of recognition elements, biointerface designs, signal amplification strategies, electrochemical techniques, matrices, and validation levels, this review identifies the most promising technical approaches for different TB biomarker classes. It further highlights key translational bottlenecks, including limited clinical validation, buffer-based testing, complex multistep amplification, redox-probe dependence, matrix fouling, and insufficient evidence of manufacturability. This review therefore provides practical guidance for developing electrochemical TB biosensors that are analytically sensitive, clinically relevant, and suitable for decentralized diagnostic applications.

The Cryphonectriaceae (Diaporthales, Ascomycota) accommodates numerous important fungal pathogens that cause branch and stem canker diseases on woody plants worldwide. These include, for example, Cryphonectria (Cry.) parasitica, the causal agent of chestnut blight, which caused the near eradication of the American chestnut (Castanea dentata) in North America. The profound ecological and economic impact of Cry. parasitica has prompted considerable research interest in the diversity, biology, and pathogenicity of other species in the Cryphonectriaceae globally. During a 2023 disease survey in North Sumatra, trees of a single Eucalyptus clone dying as result of infection by the vascular wilt pathogen Ceratocystis (Cer.) manginecans were also found to have structures typical of the Cryphonectriaceae on their bark. The aim of this study was to identify this fungus, to test its pathogenicity and to consider its mating biology in comparison to other related species. DNA sequence comparisons for six loci (ITS, LSU, TUB1, TUB2, TEF1, and RPB2), phylogenomic analyses, as well as morphological observations, revealed that the fungus was an undescribed species of Cryphonectria, for which the name Cry. eucalypticola is provided. Inoculation trials on four eucalypt genotypes showed that Cry. eucalypticola is only mildly pathogenic and different eucalypt genotypes differed in their susceptibility to infection. Mating-type locus analysis based on whole-genome data showed that the fungus is homothallic. Analyses of the genomes of six other Cryphonectria species showed for the first time that, the genus includes both homothallic and heterothallic taxa. This is the first confirmed report of a Cryphonectria species associated with trees in the Myrtales, whereas all previously described species have been reported from the Northern Hemisphere on trees in the Fagales. The low level of aggressiveness of the fungus, and its occurrence on trees infected by Cer. manginecans, suggest that it is likely an endophyte on healthy trees that sporulates on their bark as they die.

Patients receiving hemodialysis (HD) are at increased risk of severe coronavirus disease 2019 (COVID-19) and were prioritized for vaccination, yet vaccine hesitancy remains common. We assessed COVID-19 vaccine knowledge, acceptance, and attitudes among patients receiving HD in Egypt, Kenya, and Cameroon and identified factors associated with vaccine acceptance, prior infection, willingness to receive future doses, and postvaccination complications. Multicenter cross-sectional survey study. Between March 2021 and April 2022, 765 patients receiving maintenance HD and 196 non-dialysis controls were recruited from dialysis centers in Egypt, Kenya, and Cameroon. Sociodemographic characteristics, clinical comorbidities, prior COVID-19, sources of vaccine information, and exposure to vaccinated or infected relatives. COVID-19 vaccine acceptance, willingness to receive future doses, prior infection, and post-vaccination complications. Structured questionnaires assessed knowledge, practices, and attitudes toward COVID-19 vaccination. Multivariable logistic regression identified factors independently associated with study outcomes. Vaccine acceptance was lower among patients receiving HD than nondialysis controls (58.2% vs 96.2%). Fear of side effects was the most common reason for refusal (39.3%). Postvaccination complications were less frequent among patients receiving HD (22.3% vs 44.3%). Hesitancy was more common among women, younger participants, and those with comorbidities or no prior COVID-19. Having vaccinated or previously infected relatives was associated with a greater willingness to receive future doses. Cross-sectional design limits causal inference. Nonprobability sampling and unmatched controls may limit generalizability. COVID-19 cases may have been underreported because of limited testing. COVID-19 vaccine hesitancy among patients receiving HD is driven by fear, misinformation, and sociodemographic factors. Targeted education and improved access to reliable vaccine information may help increase uptake in this population. Patients receiving hemodialysis are at high risk of severe coronavirus disease 2019 (COVID-19), but little is known about their attitudes toward vaccination. We conducted a study across multiple hospitals in Egypt, Kenya, and Cameroon to understand how these patients and a control group of nondialysis individuals perceive COVID-19 vaccines. Participants were asked about their knowledge, previous vaccination, willingness to receive future doses, and any side effects experienced. We found that most patients accepted vaccination, although some hesitated because of concerns about side effects. These findings highlighted factors that influence vaccine decisions in vulnerable populations and provide important insights for health care providers and policymakers. Understanding these patterns can help design strategies to increase vaccine uptake and protect patients receiving dialysis.

Genetic testing for Lynch and BRCA1/2-associated hereditary cancer syndromes is recommended in colon or pancreatic cancer patients, but their association with hepatocellular carcinoma (HCC) risk is unknown. We evaluated associations between rare germline variants in DNA-repair genes and HCC risk across ancestrally diverse cohorts. We analyzed whole exome (WES) and whole genome sequencing (WGS) data from 2,594 HCC cases and 290,547 cancer-free controls from diverse biobanks and cohorts: Penn Medicine BioBank, All of Us, Mayo Clinic, ESCALON, and the Million Veteran Program. Participants were classified into six population groups. We focused on six DNA-repair genes previously implicated in HCC: BRCA2, BRIP1, MSH6, PMS2, CHEK2, and FANCA. Gene-level burden analyses of rare predicted loss-of-function (pLoF) and damaging missense variants were performed in European and African populations, and across all six ancestry groups. In the European population, MSH6, a Lynch syndrome-associated gene, had the strongest association with HCC, with a 2.75-fold increased HCC risk at 1% minor-allele frequency (MAF) (OR= 2.75 [1.50, 5.04], P=0.001, FDR q=0.02), while PMS2, showed a nominally significant association at the same MAF threshold (OR=1.90 [1.08, 3.34], P=0.03, FDR q=0.09). Combined analysis across all populations strengthened the MSH6 finding (OR=2.53 [1.43, 4.49], P=0.001, FDR q=0.01) at a MAF of 0.1%. A significant BRCA2 association was also observed in the combined analysis at a MAF of 0.1% (OR=2.26 [1.39, 3.67], P=0.001, FDR q=0.01). Rare variants in MSH6 and BRCA2 are significantly associated with increased HCC risk, revealing a previously unconfirmed role for DNA repair genes in HCC susceptibility across ancestrally diverse populations. These findings may inform genetic risk stratification and surveillance strategies. Rare variants in MSH6 and BRCA2 genes are associated with 2.3 to 2.8-fold higher HCC risk. These findings may warrant further evaluation of liver cancer risk in individuals with MSH6-associated Lynch syndrome or BRCA2-associated hereditary cancer syndromes.

Providing clear guidance for nutritional interventions is a precondition for the fight against the consequences of (risk of) malnutrition/undernutrition. Therefore, a group of international experts representing major global and regional clinical nutrition societies decided to clarify indications for nutritional therapy and support. The initiative was named the Global Leadership Initiative on Indications to Nutritional Therapy and Support (GLINTS). The study used a modified Delphi methodology to develop expert consensus. Eight major statements were formulated. The process combined quantitative scoring of agreement with qualitative free-text feedback to support the revision of statements between rounds. The modified Delphi process was conducted through three sequential web-based survey rounds administered using Qualtrics (Qualtrics, Provo, UT), allowing iterative refinement of the statements and reassessment of agreement after structured panel feedback. Consensus was reached on indications for nutritional therapy/support: (i) malnutrition/undernutrition defined by the GLIM criteria, (ii) risk of malnutrition/undernutrition, and (iii) reduced oral intake. Enteral tube feeding is indicated when oral nutritional intake provides less than 50% of estimated energy and nutrient requirements and no significant improvement in intake is expected. Intestinal failure is an indication for parenteral nutrition, and supplemental parenteral nutrition may be used when oral and/or enteral nutrition fails to provide adequate energy and protein intake despite appropriate optimization strategies. All statements reached the level of consensus at 85% or greater. Consensus on when to start nutritional therapy/support was reached by the modified Delphi process. These defined and agreed recommendations may contribute to better nutritional care.