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Abstract Background Foreign body aspiration (FBA) may be complicated by secondary respiratory tract infection. The spectrum of pathogens associated with FBA in China remains poorly described. This study aimed to obtain c...

Abstract Background The prevalence and spectrum of PALB2 pathogenic/likely pathogenic variants (PV/LPVs) may vary across different regions, and these have not yet been analysed and reported in Slovenian HBOC families. Me...

Abstract Background Current understanding of the fluid biomarker profile in early-onset Alzheimer’s disease (EOAD) associated with pathogenic APP variants remains limited. We characterized four EOAD pedigrees carrying ...

Abstract Background Metagenomic next-generation sequencing (mNGS) emerging as a standout in the clinical setting. In this study, we harnessed the power of mNGS to explore the pathogenic spectrum and temporal variations i...

Abstract Background Lynch syndrome (LS) is a common hereditary cancer predisposition syndrome caused by pathogenic germline mutations in MMR genes. This study aimed to conduct LS screening in a South Chinese Endometrial ...

Abstract Tick-borne pathogens pose significant threats to wildlife health and may serve as sources of zoonotic infections. This study aimed to investigate the occurrence of Anaplasma spp., particularly Anaplasma ovis, in...

Abstract Objectives Determine the proportion of patients with Lynch syndrome who received guideline-concordant care according to NCCN guidelines during the study period (2015–2018). Methods A retrospective cohort study...

Abstract Background Weyers acrofacial dysostosis (WAD) is a rare autosomal dominant ciliopathy caused by heterozygous pathogenic variants in the EVC2 gene. The classic phenotype includes short stature, dental anomalies, ...

Abstract Background SPTBN1 encodes βII-spectrin, a cytoskeletal protein essential for neuronal structure and function. Pathogenic variants in this gene cause a neurodevelopmental disorder known as DDISBA (Developmental ...

Abstract Background Recent studies highlight the critical role of gut microbiota in sepsis pathogenesis and its potential link to neurological disorders, particularly sepsis-associated encephalopathy (SAE). However, the ...

Abstract Melissa officinalis, commonly known as lemon balm, is vulnerable to drought stress and pathogenic diseases, including those caused by Fusarium species, which can significantly affect the plant’s growth and yie...

Abstract Mortality rates from breast cancer in young women have fallen considerably in high-income countries but continue to rise in low-income countries such as Morocco. Young women with breast cancer face unique challe...