Reconciling the past and considering the future of pulmonary function test interpretation

European Respiratory Journal, Год журнала: 2024, Номер 63(2), С. 2302225 - 2302225

Опубликована: Фев. 1, 2024

Tweetable abstract

Pulmonary function testing, however useful for clinicians, is an evolving tool, and its interpretation a difficult exercise that requires precision, open-mindedness modesty https://bit.ly/3S7eiQL

Язык: Английский

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Human genetic ancestry, Mycobacterium tuberculosis diversity and tuberculosis disease severity in Dar es Salaam, Tanzania

Опубликована: Янв. 6, 2025

Infectious diseases have affected humanity for millennia and are among the strongest selective forces. Tuberculosis (TB) is an ancient disease, caused by human-adapted members of Mycobacterium tuberculosis complex (MTBC). The outcome TB infection disease highly variable, co-evolution between human populations their MTBC strains may account some this variability. Particular genetic ancestries been associated with higher susceptibility to TB, but socio-demographic aspects can confound such associations. Here, we studied 1,000 patients from Dar es Salaam, Tanzania, together respective isolates, combining bacterial genomics clinical data. We found that background patient population was strongly influenced Bantu migrations West Africa, which in contrast corresponding genotypes were mainly introduced outside Africa. These findings suggest a recent evolutionary history co-existence Salaam. detected no evidence effect ancestry, or phylogenetic diversity alone, nor interaction, on severity. Treatment-seeking, social environmental factors likely be main determinants severity at point care population.

Язык: Английский

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Human genetic ancestry, Mycobacterium tuberculosis diversity and tuberculosis disease severity in Dar es Salaam, Tanzania

Опубликована: Янв. 6, 2025

Infectious diseases have affected humanity for millennia and are among the strongest selective forces. Tuberculosis (TB) is an ancient disease, caused by human-adapted members of Mycobacterium tuberculosis complex (MTBC). The outcome TB infection disease highly variable, co-evolution between human populations their MTBC strains may account some this variability. Particular genetic ancestries been associated with higher susceptibility to TB, but socio-demographic aspects can confound such associations. Here, we studied 1,000 patients from Dar es Salaam, Tanzania, together respective isolates, combining bacterial genomics clinical data. We found that background patient population was strongly influenced Bantu migrations West Africa, which in contrast corresponding genotypes were mainly introduced outside Africa. These findings suggest a recent evolutionary history co-existence Salaam. detected no evidence effect ancestry, or phylogenetic diversity alone, nor interaction, on severity. Treatment-seeking, social environmental factors likely be main determinants severity at point care population.

Язык: Английский

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Seven loci associated with schizophrenia and bipolar I disorder in selected southern African population groups

European Journal of Medical Genetics, Год журнала: 2025, Номер unknown, С. 105005 - 105005

Опубликована: Фев. 1, 2025

Язык: Английский

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Bridging data gaps: African reference genomes advancing inclusive microbiome research

Trends in Microbiology, Год журнала: 2025, Номер unknown

Опубликована: Фев. 1, 2025

Язык: Английский

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Embedding Equity and Inclusion Principles Into Nephrology Board Examinations: An Essential Part of Our Path Toward Kidney Health Justice

Advances in Kidney Disease and Health, Год журнала: 2025, Номер 32(1), С. 95 - 107

Опубликована: Янв. 1, 2025

Язык: Английский

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Screening of Germline BRCA1 and BRCA2 Variants in Nigerian Breast Cancer Patients

Technology in Cancer Research & Treatment, Год журнала: 2025, Номер 24

Опубликована: Апрель 1, 2025

Background Breast cancer remains a leading cause of mortality among Nigerian women, with triple-negative breast (TNBC) being particularly prevalent. Variations in BRCA1 and BRCA2 genes remain key risk factors for this disease. However, there are gaps the frequency spectrum these variants populations, as well dearth local capacity to characterize variations. Objective This study aimed at identifying characterizing germline variations BRCA1/2 patients healthy age-matched controls understand genetic profile population. Methods A prospective case-control was conducted involving 45 51 recruited from four major hospitals. DNA extracted blood samples, followed by targeted sequencing exonic intronic regions using Ampliseq BRCA panel Illumina MiSeq platform. Variant calling performed, clinical significance evaluated on ClinVar Exchange databases, haplotype analysis performed NIH LDlink Haploview 4.2 software. Results Pathogenic were identified 6.7% patients, all TNBC family history cancer. Two pathogenic detected: frameshift deletion c.133_134delAA (p.Lys45 fs) (rs397508857) missense variant c.5324T > (p.Met1775Arg) (rs41293463). c.8817_8820del (p.Lys2939 (rs397508010) also identified. These absent controls. Haplotype revealed distinct haplotypes group. Conclusion identifies unique highlighting need population-specific screening. Integrating testing into management strategies could facilitate early detection, personalized treatment planning, counseling Nigeria.

Язык: Английский

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Systematic analysis of population studies performed with the ForenSeq™ DNA Signature Prep kit

Journal of Forensic Sciences, Год журнала: 2025, Номер unknown

Опубликована: Апрель 18, 2025

Abstract Many forensic laboratories have conducted sequence‐based population studies to support the integration of massively parallel sequencing (MPS). However, data remain limited concerning African populations. MPS enhances allelic representation compared CE methods. It is hypothesized that this increase will be more pronounced for populations due their greater genetic diversity. A systematic review and meta‐analysis were compile from using ForenSeq™ DNA Signature Prep kit, frequently employed in studies. The aim was gain insight into global data, focusing on underrepresented search spanned three databases, resulting 582 records, where 40 articles met inclusion criteria 20 qualified meta‐analysis. aimed quantify variation autosomal short tandem repeat (A‐STR) markers allele counts random match probability (RMP). Most high‐income countries (65%, 26/40), with none Africa. Only 14 out included concordance 13 these reporting rates above 99%. covered 35 groups found 27 A‐STR evaluated, mean increased by 53.08% length‐to‐sequence‐based analyses. ancestry showed highest biggest reduction RMP. Despite substantial diversity populations, minimal. Addressing gap crucial justify further research countries.

Язык: Английский

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Ghosts of extinct apes: genomic insights into African hominid evolution

Trends in Ecology & Evolution, Год журнала: 2024, Номер 39(5), С. 456 - 466

Опубликована: Янв. 31, 2024

We are accustomed to regular announcements of new hominin fossils. There now some 6000 fossils, and up 31 species. However, where the African ape fossils? The answer is that there almost none. Our knowledge evolution based entirely on genomic analyses, which show extant diversity very young. This contrasts with extensive deep hominins known from Does this difference point low late diversification lineages, or high rates extinction? comparative evolutionary dynamics hominids central interpreting living adaptations, as well understanding patterns nature last common ancestor.

Язык: Английский

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Hunter–gatherer genetics research: Importance and avenues

Evolutionary Human Sciences, Год журнала: 2024, Номер 6

Опубликована: Янв. 1, 2024

Major developments in the field of genetics past few decades have revolutionised notions what it means to be human. Although currently only a populations around world practise hunting and gathering lifestyle, this mode subsistence has characterised members our species since its very origins allowed us migrate across planet. Therefore, geographical distribution hunter-gatherer populations, dependence on local ecosystems connections neighbouring groups provided unique insights into evolutionary origins. However, given vulnerable status hunter-gatherers worldwide, development anthropological requires that we reevaluate how conduct research with these communities. Here, review inclusion studies advanced understanding human origins, ancient population migrations interactions as well phenotypic adaptations adaptability different environments, important scientific medical applications advancements. At same time, highlight necessity address yet unresolved questions identify areas which may benefit from improvements.

Язык: Английский

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