Diminished DNA binding affinity of DMRT1 caused by heterozygous DM domain mutations is a cause of male infertility.

The most severe form of male infertility is idiopathic non-obstructive azoospermia (NOA), a complete sperm absence in the ejaculate. We performed exome sequencing in the Croatian infertile brothers with NOA and found a variant in DMRT1 (Doublesex and mab-3 related transcription factor 1) gene that was further assessed by the EMSA assay and molecular dynamic simulations. We additionally screened for DMRT1 mutations in 1940 infertile men diagnosed with spermatogenic failure, 644 normozoospermic controls, and 105 females with primary ovarian insufficiency (POI) recruited to the GEnetics of Male INfertility Initiative (GEMINI) or Estonian Andrology (ESTAND) cohorts.

Paired nerve stimulation with selective compensation effect.

Background: In this study we investigate the selective compensation of paired peripheral nerves in healthy humans, focusing on distinct axonal conduction velocities in different fibre types. Using paired associative stimulation (PAS) with adjustable parameters, we aimed to modulate and compensate for neuronal activity along the median nerve.

Methods: Six healthy volunteers (3 male, 3 female, aged: 22-49) participated in the current study.

A data-driven model of disability progression in progressive multiple sclerosis.

This study applies the Gaussian process progression model, a Bayesian data-driven disease progression model, to analyse the evolution of primary progressive multiple sclerosis. Utilizing data from 1521 primary progressive multiple sclerosis participants collected within the International Progressive Multiple Sclerosis Alliance Project, the analysis includes 18 581 longitudinal time-points (average follow-up time: 28.2 months) of disability assessments including the expanded disability status scale, symbol digit modalities, timed 25-foot-walk, 9-hole-peg test and of MRI metrics such as T1 and T2 lesion volume and normalized brain volume.

Disparate molecular mechanisms in cardiac ryanodine receptor channelopathies.

Aims: Mutations in the cardiac ryanodine receptor (RyR2) are associated with catecholaminergic polymorphic ventricular tachycardia (CPVT). This study investigates the underlying molecular mechanisms for CPVT mutations within the RyR2 N-terminus domain (NTD).

Methods And Results: We consulted the high-resolution RyR2 structure in both open and closed configuration to identify mutations G357S/R407I and A77T, which lie within the NTD intra- and inter-subunit interface with the Core Solenoid (CSol), respectively.

Longitudinal association between nailfold capillaroscopy and incident interstitial lung disease: A EUSTAR database analysis.

Objectives: To evaluate (1) the association between nailfold capillaroscopy pattern and 5-year risk for incident interstitial lung disease and (2) the association between transition in nailfold capillaroscopy pattern and risk of incident interstitial lung disease.

Methods: Data of adult patients from the EUSTAR database fulfilling the ACR-EULAR criteria with a disease duration ⩽5 years, having a scleroderma pattern at nailfold capillaroscopy with high-resolution computed tomography confirmed absence of interstitial lung disease (i.e.

Trajectories of antidepressant use and 6-year change in body weight: a prospective population-based cohort study.

Background: Antidepressant drug treatment may be associated with weight gain, but long-term studies are lacking.

Methods: We included 3,127 adults (1,701 women) from the REGICOR study, aged 55.6 (SD = 11.

Bilateral hypothalamotomy plus dominant amygdalotomy with Gamma Knife radiosurgery. A non-invasive alternative when everything has failed in the management of aggressive behavior disorder.

Background: Impulsive aggression is the core symptom of intermittent explosive disorder, which can be a feature of several psychiatric disorders. There is a subset of individuals who do not respond adequately to medical treatment; they are treatment refractory. The objective of this report is to describe a case of a patient with a background of schizophrenia and concomitant refractory aggressiveness disorder, treated with two-stage bilateral hypothalamotomy and unilateral amygdalotomy with Gamma Knife radiosurgery (GKR).

Corrigendum: In-depth analysis of IS genomic variability in the complex.

[This corrects the article DOI: 10.3389/fmicb.2022.

Extending beyond traditional forage: potential nutritional benefits of native plants in extreme arid insular regions.

The scarcity, unstable nutritional quality and environmental cost of imported forages in arid insular regions like Fuerteventura in the Canary Islands (Spain) need exploring sustainable local alternatives. This study evaluated the nutritional quality of twelve native and endemic plant species categorized into legumes, grasses, and a mixed group, cultivated under controlled conditions. The bromatological profiles, focusing on fiber, protein, lipids, and minerals, showed significant differences among plants in key parameters of forage quality: neutral detergent fiber (NDF; 24.

Experiences and needs of unaccompanied irregular migrant minors who arrive in Spain on small boats: A qualitative study.

The European Union receives thousands of unaccompanied irregular migrant minors every year, but little is known about their life experiences during the migration process. The aim of this study is to describe their experiences as minors when they arrived in Spain in small boats, which will help to understand their psychosocial and health needs. A descriptive qualitative study was undertaken.

Assessing local service providers' needs for scaling up MHPSS interventions for Ukrainian refugees: Insights from Poland, Slovakia, and Romania.

Providing Mental Health and Psychosocial Support interventions (MHPSS) for forcibly displaced Ukrainians in Central and Eastern Europe poses numerous challenges due to various socio-cultural and infrastructural factors. This qualitative study explored implementation barriers reported by service providers of in-person and digital MHPSS for Ukrainian refugees displaced to Poland, Romania and Slovakia due to the war. In addition, the study aimed to generate recommendations to overcome these barriers.

Secure Base Leadership in military training: enhancing organizational identification and resilience through work engagement.

Introduction: This study examines the relationships between secure base leadership, organizational identification, and resilience among military cadets, utilizing the Job Demands-Resources (JD-R) model as a theoretical framework. Specifically, it explores the mediating role of work engagement in these associations within the context of military training.

Methods: A cross-sectional study was conducted with 363 cadets from the General Military Academy of the Army in Zaragoza, Spain.

Relationships among workaholism, personality, obsessive beliefs, and entrepreneurial motivation.

Introduction: Recent studies focusing mainly on entrepreneurial motivation have identified several variables (family security, motivation, and entrepreneurial intentions) as predictors of employee creativity. This research aims to provide insights into the underlying factors that shape entrepreneurial motivation, which can be used to develop effective strategies to support and foster entrepreneurship. In this study, we examine the relationship between workaholism, personality, obsessive beliefs and entrepreneurial motivation.

Synthesizing and assessing influenza vaccine evidence: Strengths and limitations of the recent ECDC report on the effectiveness of new and enhanced influenza vaccines. Communication on: the "European Centre for Disease Prevention and Control. Systematic review update on the efficacy, effectiveness and safety of newer and enhanced seasonal influenza vaccines for the prevention of laboratory confirmed influenza in individuals aged 18 years and over. Stockholm: ECDC; 2024".

High quality research is critical for evidence-based decision making in public health and fundamental to maintain progress and trust in immunization programs in Europe. In 2024 the European Centre for Disease Prevention and Control (ECDC) conducted an update of the 2020 systematic review to capture more recent evidence on of the efficacy, effectiveness of influenza vaccines in individuals aged 18 years and older in the prevention of laboratory-confirmed influenza. While this report was highly anticipated due to the strength of the protocol and processes put in place, during our assessment, we expressed two chief concerns.

EBV-specific T-cell immunity: relevance for multiple sclerosis.

Genetic and environmental factors jointly determine the susceptibility to develop multiple sclerosis (MS). Improvements in the design of epidemiological studies have helped to identify consistent environmental risk associations such as the increased susceptibility for MS following Epstein-Barr virus (EBV) infection, while biological mechanisms that drive the association between EBV and MS remain incompletely understood. An increased and broadened repertoire of antibody and T-cell immune responses to EBV-encoded antigens, especially to the dominant CD4 T-cell EBV nuclear antigen 1 (EBNA1), is consistently observed in patients with MS, indicating that protective EBV-specific immune responses are deregulated in MS and potentially contribute to disease development.

Metastatic multicentric epithelioid angiosarcoma of bone. A case report with pitfalls. Tumor seeding after percutaneous biopsy and hypercalcemia.

Angiosarcomas are a type of malignant tumor of vascular origin. They represent <1% of all primary bone tumors. The multicentric or metastatic does not differ in its high aggressiveness and poor prognosis.

The effect of consumption of cranberry on adherence to feline uroepithelial cells in a blind randomised cross-over trial in cats.

Introduction: is the most common uropathogen in humans, dogs and cats. Dietary consumption of cranberry () is known to be associated with a reduction in uropathogenic (UPEC) adhesion to human and canine urinary epithelial cell lines, but this has not been shown in cats.

Material And Methods: Six neutered domestic cats, one male and five females, were randomly fed three diets successively, one containing 0.

Metastatic urothelial carcinoma in multiple appendicular muscles of a cat.

Case Summary: A 13-year-old male castrated domestic shorthair cat presented with a 2-month history of progressive lameness, poor appetite and constipation. Physical examination revealed palpable lesions in muscles of several extremities. Ultrasound examination confirmed the presence of round lesions with a hypo- or anechoic centre within the muscles.

Baricitinib in pediatric chronic immune thrombocytopenia and associated autoimmune conditions: a case report.

Immune thrombocytopenia (ITP) is a disease characterized by platelet destruction, presenting substantial challenges in clinical practice. The classic first line therapeutic management includes corticosteroids and intravenous immunoglobulins. Although it is less frequent in children than in adults, there is a significant percentage of patients, up to 47% according to the Pediatric and Adult Registry on Chronic ITP, who require second-line or further treatment, due to non-response to the first line treatment or persistence of disease, among other reasons.

Sperm recovery from urine in men with retrograde ejaculation.

Introduction: Retrograde ejaculation (RE) consists of the reflux backwards, towards the bladder, of the ejaculate, during the emission phase of ejaculation, causing a total or partial absence of sperm emission, with the consequent diversion of semen into the bladder during the emission phase of ejaculation. Evaluating the ejaculate may not be sufficient for identifying RE in some patients. Hence, the management of infertility may involve the use of invasive methods such as epididymal fluid retrieval or testicular biopsy.

Bridging the gap: Integrating cutting-edge techniques into biological imaging with deepImageJ.

This manuscript showcases the latest advancements in deepImageJ, a pivotal Fiji/ImageJ plugin for bioimage analysis in life sciences. The plugin, known for its user-friendly interface, facilitates the application of diverse pre-trained convolutional neural networks to custom data. The manuscript demonstrates several deepImageJ capabilities, particularly in deploying complex pipelines, three-dimensional (3D) image analysis, and processing large images.

Cytokines as potential biomarkers for the diagnosis of infection in Mediterranean buffaloes ().

() is the primary agent of bovine tuberculosis (TB) in Mediterranean buffalo, which has a negative economic impact on buffalo herds. Improving TB diagnostic performance in this species represents a key step to eradicate efficiently this disease. We have recently shown the utility of the IFN-γ assay in the diagnosis of infection in Mediterranean buffaloes (), but other cytokines might be useful immunological biomarkers of this infection.

Randomized community trial to assess nutritional, socioeconomic, and health outcomes of a food forest initiative in Santa Elena Province, Ecuador: a study protocol.

Malnutrition is an escalating concern in low-and-middle-income countries (LMICs), including Ecuador, particularly within rural settings. To address this issue, food forests emerge as a promising intervention. This research protocol outlines a controlled intervention in the province of Santa Elena, aiming to evaluate the efficacy of a food forest in enhancing nutritional outcomes, with potential implications for broader replication.

A paired study comparing mononuclear cell collection using a new in-line system with an off-line extracorporeal photopheresis apheresis system.

Background: Extracorporeal photopheresis (ECP) product characteristics are not well established. The aim of this study was to compare mononuclear cells (MNCs) collection using the new Amicus blue (AB) In-line ECP system to our standard Off-line ECP system using the Optia apheresis device and the MacoGenic G2 inactivation system (OM).

Study Design And Methods: We assessed the ECP products and procedure parameters, patient characteristics, and adverse events for both AB and OM systems in paired patients.