A comprehensive study of common and rare genetic variants in spermatogenesis-related loci identifies new risk factors for idiopathic severe spermatogenic failure.

Study Question: Can genome-wide genotyping data be analysed using a hypothesis-driven approach to enhance the understanding of the genetic basis of severe spermatogenic failure (SPGF) in male infertility?

Summary Answer: Our findings revealed a significant association between SPGF and the gene and identified three novel genes (, , and ) along with 32 potentially pathogenic rare variants in 30 genes that contribute to this condition.

What Is Known Already: SPGF is a major cause of male infertility, often with an unknown aetiology. SPGF can be due to either multifactorial causes, including both common genetic variants in multiple genes and environmental factors, or highly damaging rare variants.

Distribution-based detection of radiographic changes in pneumonia patterns: A COVID-19 case study.

Although the classification of chest radiographs has long been an extensively researched topic, interest increased significantly with the onset of the COVID-19 pandemic. Existing results are promising; however, the radiological similarities between COVID-19 and other types of respiratory diseases limit the success of conventional image classification approaches that focus on single instances. This study proposes a novel perspective that conceptualizes COVID-19 pneumonia as a deviation from a normative distribution of typical pneumonia patterns.

Lung Disease in Sjögren's Syndrome: Insights From a Reference Center's Population.

Background Sjögren's syndrome (SS) is a chronic systemic autoimmune disorder characterized by lymphocytic infiltration of the exocrine glands. Although primarily affecting these glands, the syndrome can also involve several organs. Interstitial lung disease is one of the most severe complications associated with SS.

The Bronchodilator and Anti-Inflammatory Effect of Long-Acting Muscarinic Antagonists in Asthma: An EAACI Position Paper.

As cholinergic innervation is a major contributor to increased vagal tone and mucus secretion, inhaled long-acting muscarinic antagonists (LAMA) are a pillar for the treatment of chronic obstructive pulmonary disease and asthma. By blocking the muscarinic receptors expressed in the lung, LAMA improve lung function and reduce exacerbations in asthma patients who remained poorly controlled despite treatment with inhaled corticosteroids and long-acting β2 agonists. Asthma guidelines recommend LAMA as a third controller to be added on before the initiation of biologicals.

Associations between sleep opportunity, sleep problems, and social jetlag and toddlers' adiposity: A cross-sectional study.

This study aims to analyze the associations between sleep characteristics, including sleep opportunity, problems and social jetlag, and toddlers' adiposity. It is part of a larger research project involving 344 children (mean ± SD age of 23.6 ± 6.

Characterization of thrombosis risk in ambulatory patients with cancer: results of the observational, prospective, multicenter CARTAGO study.

Background: Venous thromboembolism (VTE) is one of the leading causes of death in patients with cancer. Currently, there is a need to develop an easily applicable risk model that can identify patients who will benefit from receiving primary thromboprophylaxis to reduce the incidence of VTE.

Patients And Methods: This was a non-interventional, multicenter, observational, prospective study carried out in 62 Oncology and Hematology services in Spain and Portugal between January 2018 and December 2019.

Clinical Significance of histologic healing in IBD: Evidence from randomized controlled trials (RCT) and real world (RW) data.

Histologic mucosal healing (HMH) has emerged as a crucial target in managing inflammatory bowel disease, complementing the established goal of endoscopic mucosal healing. This review evaluates the significance of HMH in both Crohn's disease (CD) and ulcerative colitis (UC). In UC, strong evidence shows that HMH correlates with improved long-term outcomes, including reduced hospitalization rates, and decreased need for corticosteroids and colectomy.

Hypoxia as a critical player in extracellular vesicles-mediated intercellular communication between tumor cells and their surrounding microenvironment.

In the past years, increasing attention has been paid to the role of extracellular vesicles (EVs) as mediators of intercellular communication in cancer. These small size particles mediate the intercellular transfer of important bioactive molecules involved in malignant initiation and progression. Hypoxia, or low partial pressure of oxygen, is recognized as a remarkable feature of solid tumors and has been demonstrated to exert a profound impact on tumor prognosis and therapeutic efficacy.

Stillbirth and Congenital Syphilis: Autopsy and Placental Findings of 11 Cases and Review of the Literature.

Syphilis is a preventable and treatable disease, which continues to strike low-income countries and vulnerable populations in high-income countries. It is caused by , a spirochete capable of traversing the placental barrier, with a high rate of fetal and placental infection. Congenital syphilis (CoS) has poor prognosis if left untreated.

In varietate concordia - cluster analysis of EQ-5D-5L value sets in European Union countries.

Background: The transferability of health policies in the European Union (EU) faces challenges due to economic, political, and healthcare system factors, including cross-country differences in health preferences. In order to aid policymaking, previous research has grouped EU countries based on geographical proximity or literature-based criteria, but not on health preference data. The EQ-5D-5L instrument, which measures health-related quality of life and reflects unique national health preferences shaped by cultural and social factors, is used to evaluate policies, technologies and interventions, but has not been used to group countries.

The development of an "Engagement in Physical Education" scale.

Purpose: The purpose of this paper is to present a scale that assesses students' perceptions of their engagement in physical education. The scale assesses all four dimensions of engagement (agentic, cognitive, behavioral, and emotional) in order to be consistent with the contemporary notion of engagement used in current educational research.

Method: A total of 231 eighth and ninth-grade students (108 boys, Mage = 14.

Shallow reef fish assemblage from Fernando de Noronha Archipelago, Southwest Atlantic.

Background: The paper presents an extensive dataset of the shallow reef fish communities and habitat characteristics in the Fernando de Noronha Archipelago (Southwest Atlantic). The data were collected from August to October 2006 in the Fernando de Noronha main island. To evaluate the shallow reef fish communities, 165 visual censuses were performed in eight different localities in the Fernando de Noronha Archipelago.

Intrinsic and environmental drivers of pairwise cohesion in wild Canis social groups.

Animals within social groups respond to costs and benefits of sociality by adjusting the proportion of time they spend in close proximity to other individuals in the group (cohesion). Variation in cohesion between individuals, in turn, shapes important group-level processes such as subgroup formation and fission-fusion dynamics. Although critical to animal sociality, a comprehensive understanding of the factors influencing cohesion remains a gap in our knowledge of cooperative behavior in animals.

A proof-of-concept analysis of data from the first NHS clinic for young adults with comorbid cannabis use and psychotic disorders.

Background: Cannabis use severely affects the outcome of people with psychotic disorders, yet there is a lack of treatments. To address this, in 2019 the National Health Service (NHS) Cannabis Clinic for Psychosis (CCP) was developed to support adults suffering from psychosis to reduce and/or stop their cannabis use.

Aims: Examine outcome data from the first 46 individuals to complete the CCP's intervention.

Lean ZSF1 rats in basic research on heart failure with preserved ejection fraction.

Aims: ZSF1 obese rats harbouring two mutant leptin receptor alleles (Lepr and Lepr) develop metabolic syndrome and heart failure with preserved ejection fraction (HFpEF), making them a widely used animal model in cardiometabolic research. Studies using ZSF1 rats have contributed significantly to the elucidation of pathophysiological mechanisms underlying HFpEF and therapeutic strategies against this multi-organ syndrome. In contrast, hybrid, lean ZSF1 rats (L-ZSF1) do not develop HFpEF and generally serve as controls, disregarding the possibility that the presence of one mutant Lepr allele might affect left ventricular ejection fraction (LVEF), diastolic dysfunction and other relevant HFpEF parameters, such as N-terminal pro-brain natriuretic peptide (NT-proBNP) levels and cardiac inflammation, which could increase during disease manifestation.

Empirical estimation of disutilities and decision thresholds for composite endpoints.

Objectives: The evaluation of health benefits and harms of an intervention with GRADE Evidence to Decision (EtD) frameworks includes judgments if the effects are "trivial," "small," "moderate," or "large." Such judgments ideally require the a priori establishment of decision thresholds (DTs), whose empirical derivation for single outcomes has been previously described. In this article, we provide a methodological approach to estimate DTs for composite endpoints based on disutilities.

Impact of food additives (sodium carbonate and ammonium bicarbonate) on interactions between astringent compounds and an oral cell model.

Many foods contain additives like sodium carbonate and ammonium bicarbonate to ensure safety, preserve quality, or extend shelf life. Recent studies suggest these additives may influence interactions between astringent compounds and oral cells. Using a tongue epithelium cell model, we investigated how these salts affect interactions between astringent compounds (phenolic and non-phenolic) and oral constituents.

Synthesis, fluorescence and theoretical insights into a novel FRET-based dansyl-rhodamine sensor for the in vitro detection of toxic bioaccumulated Hg(II) ions.

This work describes the successful design and synthesis of a new fluorescence resonance energy transfer (FRET)-based sensor, denoted as RD1. This sensor incorporates a robust dual-fluorophore design, which combines a rhodamine and a dansyl derivative, functionalized with a thiosemicarbazide group that acts as Hg(II) specific recognition site. A synthetic pathway was developed that allowed the efficient synthesis of RD1 with a remarkable overall yield of 44% over four steps, through microwave-assisted protocols.

Association Between Placental Pathology and Early-Onset Fetal Growth Restriction: A Systematic Review.

Fetal growth restriction (FGR) is defined as the failure of the fetus to achieve its genetically determined growth potential. Our aim is to compare the placental lesions present in early-onset fetal growth restriction with that of late-onset FGR. We performed a systematic review according to the PRISMA guideline.

MIBiG 4.0: advancing biosynthetic gene cluster curation through global collaboration.

Specialized or secondary metabolites are small molecules of biological origin, often showing potent biological activities with applications in agriculture, engineering and medicine. Usually, the biosynthesis of these natural products is governed by sets of co-regulated and physically clustered genes known as biosynthetic gene clusters (BGCs). To share information about BGCs in a standardized and machine-readable way, the Minimum Information about a Biosynthetic Gene cluster (MIBiG) data standard and repository was initiated in 2015.

A narrative review about the intricate crosstalk among endometrium, adipose tissue, and neurons in endometriosis. The multifaceted role of leptin.

Endometriosis is a highly prevalent gynecological disease characterized by the presence of endometrium-like tissue outside the uterus, whose etiopathology is far from being elucidated. The most frequent complains of patients are pelvic pain and infertility. Increasing evidence supports the systemic impact of endometriosis suggesting that an intricate crosstalk among distinct organs underlies the development of the disease.