Detection of germline CNVs from gene panel data: benchmarking the state of the art.

Germline copy number variants (CNVs) play a significant role in hereditary diseases. However, the accurate detection of CNVs from targeted next-generation sequencing (NGS) gene panel data remains a challenging task. Several tools for calling CNVs within this context have been published to date, but the available benchmarks suffer from limitations, including testing on simulated data, testing on small datasets, and testing a small subset of published tools.

Flagellar motility and the mucus environment influence aggregation mediated antibiotic tolerance of in chronic lung infection.

frequently causes chronic lung infection in individuals with muco-obstructive airway diseases (MADs). Chronic infections are difficult to treat, primarily owing to antibiotic treatment failure, which is often observed in the absence of antimicrobial resistance. In MADs, forms biofilm-like aggregates within the luminal mucus.

E-Cigarette Use, Cigarette Smoking, and Sex Are Associated With Nasal Microbiome Dysbiosis.

Introduction: Previous research suggests that e-cigarettes can alter immune function, including in the nasal mucosa, in unique ways. The respiratory microbiome plays a key role in respiratory host defense, but the effects of e-cigarettes on the respiratory or nasal microbiome, are not well understood.

Aims And Methods: Using 16S rRNA gene sequencing on nasal samples from adult e-cigarette users, smokers, and nonsmokers, we determined that e-cigarette use and cigarette smoking are associated with differential respiratory microbiome dysbiosis and substantial sex-dependent differences in the nasal microbiome, particularly in e-cigarette users.

The tissue-resident regulatory T cell pool is shaped by transient multi-tissue migration and a conserved residency program.

The tissues are the site of many important immunological reactions, yet how the immune system is controlled at these sites remains opaque. Recent studies have identified Foxp3 regulatory T (Treg) cells in non-lymphoid tissues with unique characteristics compared with lymphoid Treg cells. However, tissue Treg cells have not been considered holistically across tissues.

Prevalence and Risk Factors for Colonization by Multidrug-Resistant Microorganisms among Long-Term Travelers and Recently Arrived Migrants.

Multidrug-resistant (MDR) bacteria have become one of the most important health problems. We aimed to assess whether international travel may facilitate their spread through the colonization of asymptomatic travelers. A cross-sectional study was conducted (November 2018 to February 2022).

Relationship between sociodemographic, clinical, and laboratory characteristics and severity of COVID-19 in pediatric patients.

COVID-19 affects children less seriously than adults; however, severe cases and deaths are documented. This study objective is to determine socio-demographic, clinical and laboratory indicators associated with severe pediatric COVID-19 and mortality at hospital entrance. A multicenter, retrospective, cross-sectional study was performed in 13 tertiary hospitals in Bolivia.

Sexually transmitted infections, the epidemic that persists after the COVID-19 pandemic: an analysis of the primary care electronic health records covering about 5 million people in Catalonia.

Background: The aim of our study is to analyse the trends in the diagnosis of sexually transmitted infections (STIs) during the COVID-19 pandemic.

Methods: We conducted an observational retrospective population-based study using data from primary care electronic health records spanning from January 2016 to December 2022 (involving 5.1 million people older than 14 years).

Mucus polymer concentration and adaptation converge to define the antibiotic response of during chronic lung infection.

Unlabelled: The airway milieu of individuals with muco-obstructive airway diseases (MADs) is defined by the accumulation of dehydrated mucus due to hyperabsorption of airway surface liquid and defective mucociliary clearance. Pathological mucus becomes progressively more viscous with age and disease severity due to the concentration and overproduction of mucin and accumulation of host-derived extracellular DNA (eDNA). Respiratory mucus of MADs provides a niche for recurrent and persistent colonization by respiratory pathogens, including , which is responsible for the majority of morbidity and mortality in MADs.

A Rare Presentation of Multicanal Benign Paroxysmal Positional Vertigo in a Premenopausal Woman With Osteopenia: A Case Report.

We report a case of non-traumatic, multicanal benign paroxysmal positional vertigo (BPPV) in a premenopausal, osteopenic 35-year-old female with corresponding low bone mineral density. Dix-Hallpike and supine roll tests confirmed unilateral posterior canal (PC) BPPV from 2012-2014, and later, a rare presentation of multicanal BPPV with specifically ipsilateral horizontal canals (HC) and anterior canals (AC) affected in 2015. Heel scans displayed T-scores within the osteopenia range in 2012 until levels normalized one year later.

Saliva sampling method influences oral microbiome composition and taxa distribution associated with oral diseases.

Saliva is a readily accessible and inexpensive biological specimen that enables investigation of the oral microbiome, which can serve as a biomarker of oral and systemic health. There are two routine approaches to collect saliva, stimulated and unstimulated; however, there is no consensus on how sampling method influences oral microbiome metrics. In this study, we analyzed paired saliva samples (unstimulated and stimulated) from 88 individuals, aged 7-18 years.

Healthcare providers' use of a concise summary to prescribe for lactating patients.

Background: Most breastfeeding individuals take at least one prescription drug, yet limited data from lactation studies are available to inform the safety of these drugs during breastfeeding. As a result, healthcare providers (HCPs) rely on available information about safety of drugs used during pregnancy or on personal experiences to inform prescribing/counseling decisions for breastfeeding individuals. To improve risk communication regarding drugs used during lactation, the U.

Mucus polymer concentration and adaptation converge to define the antibiotic response of during chronic lung infection.

Unlabelled: The airway milieu of individuals with muco-obstructive airway diseases (MADs) is defined by the accumulation of dehydrated mucus due to hyperabsorption of airway surface liquid and defective mucociliary clearance. Pathological mucus becomes progressively more viscous with age and disease severity due to the concentration and overproduction of mucin and accumulation of host-derived extracellular DNA (eDNA). Respiratory mucus of MADs provides a niche for recurrent and persistent colonization by respiratory pathogens, including , which is responsible for the majority of morbidity and mortality in MADs.

Endoscopic retrograde cholangiopancreatography for the management of choledocholithiasis in older patients.

Background: older adults are increasing in number and frequently seek hospital care for acute illness. This study aimed to measure the utilization and safety of endoscopic retrograde cholangiopancreatography (ERCP) in patients aged 85 and older in our hospital.

Methods: a single-site, retrospective, observational and descriptive study was performed.

Use of Skull Vibration-Induced Nystagmus in the Follow-up of Patients With Ménière Disease Treated With Intratympanic Gentamicin.

Objectives: Ménière disease (MD) is an idiopathic disorder that affects hearing and inner ear balance. Intratympanic gentamicin (ITG) is recognized as an effective treatment for uncontrolled MD characterized by persistent vertigo attacks despite therapy. The video head impulse test (vHIT) and skull vibration-induced nystagmus (SVIN) are validated.

Humoral and cellular immunity to SARS-COV-2 after vaccination with mRNA vaccines in PLWH with discordant immune response. Influence of the vaccine administered.

Background: Data on SARS-CoV-2 mRNA vaccine immunogenicity in people living with human immunodeficiency virus (PLWH) and discordant immune response (DIR) are currently limited. Therefore, we compare the immunogenicity of these vaccines in DIR and immunological responders (IR).

Methods: A prospective cohort that enrolled 89 participants.

vaRHC: an R package for semi-automation of variant classification in hereditary cancer genes according to ACMG/AMP and gene-specific ClinGen guidelines.

Motivation: Germline variant classification allows accurate genetic diagnosis and risk assessment. However, it is a tedious iterative process integrating information from several sources and types of evidence. It should follow gene-specific (if available) or general updated international guidelines.

TiO nanoparticles' library toxicity (UV and non-UV exposure) - High-throughput in vivo transcriptomics reveals mechanisms.

The hazards of nanomaterials/nanoparticles (NMs/NPs) are mostly assessed using individual NMs, and a more systematic approach, using many NMs, is needed to evaluate its risks in the environment. Libraries of NMs, with a range of identified different but related characters/descriptors allow the comparison of effects across many NMs. The effects of a custom designed Fe-doped TiO NMs library containing 11 NMs was assessed on the soil model Enchytraeus crypticus (Oligochaeta), both with and without UV (standard fluorescent) radiation.