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.

Parental Assessment of Infantile Hemangioma Cosmetic Clinical Outcomes: Results of the Spanish Hemangioma Nationwide Prospective Cohort.

Background: Functional impairment is the main consideration when it comes to choosing therapy for infantile hemangiomas (IH). However, since most hemangiomas are treated for cosmetic reasons, it is important to know the cosmetic outcome assessed by the parents.

Objective: To evaluate the aesthetic outcomes of IH, considering the characteristics of the lesions and the treatments used.

Artificial intelligence for identification of candidates for device-aided therapy in Parkinson's disease: DELIST-PD study.

Introduction: In Parkinson's Disease (PD), despite available treatments focusing on symptom alleviation, the effectiveness of conventional therapies decreases over time. This study aims to enhance the identification of candidates for device-aided therapies (DAT) using artificial intelligence (AI), addressing the need for improved treatment selection in advanced PD stages.

Methods: This national, multicenter, cross-sectional, observational study involved 1086 PD patients across Spain.

Allergy and autoinflammation drive persistent systemic inflammatory response in Meniere Disease: A longitudinal study.

Background: Meniere disease (MD), an inner ear disorder influenced by genetic and environmental factors, potentially leads to chronic inflammation. This study evaluates whether inflammation in MD patients is driven by allergy or autoinflammation.

Methods: 2-year longitudinal study.

Maintenance with 5-FU/LV-aflibercept after induction with FOLFIRI-aflibercept versus FOLFIRI-aflibercept until progression as second-line treatment in older adults with metastatic colorectal cancer: the AFEMA phase II randomized trial.

Background: The combination chemotherapy i.v. 5-fluorouracil (5-FU), irinotecan, and aflibercept (FOLFIRI-A) is a standard second-line treatment of metastatic colorectal cancer (mCRC).

Biomarkers of response to ocrelizumab in relapsing-remitting multiple sclerosis.

Objective: To ascertain the changes of serum neurofilament light chain (sNfL) and glial fibrillary acidic protein (sGFAP) values in relapsing-remitting multiple sclerosis (RRMS) patients treated with ocrelizumab and their association with treatment response.

Methods: Multicenter prospective study including 115 RRMS patients initiating ocrelizumab treatment between February 2020 and March 2022 followed during a year. Serum samples were collected at baseline and every 3 months to measure sNfL and sGFAP levels using single-molecule array (SIMOA) technology.

Hypertrophic cardiomyopathy due to truncating variants in myosin binding protein C: a Spanish cohort.

Background: Hypertrophic cardiomyopathy (HCM) is an inherited disorder whose causal variants involve sarcomeric protein genes. One of these is myosin-binding protein C (MYBPC3), being previously associated with a favourable prognosis. Our objective is to describe the clinical characteristics and events of a molecularly homogeneous HCM cohort associated with truncating variants.

The Role of the Microbiome and of Radiotherapy-Derived Metabolites in Breast Cancer.

The gut microbiome has emerged as a crucial player in modulating cancer therapies, including radiotherapy. In the case of breast cancer, the interplay between the microbiome and radiotherapy-derived metabolites may enhance therapeutic outcomes and minimize adverse effects. In this review, we explore the bidirectional relationship between the gut microbiome and breast cancer.

Homozygous familial hypercholesterolemia in Spain. Data from Registry of the Spanish Atherosclerosis Society.

Unlabelled: Homozygous familial hypercholesterolemia (HoFH) is a rare disease characterized by the presence of two pathogenic variants in the LDLR, APOB, PCSK9 or LDLRAP1 genes, which cause very high levels of LDL cholesterol and premature atherosclerotic cardiovascular disease (ASCVD).The objective of this study is to analyze the current situation regarding diagnosis, cardiovascular disease, lipid-lowering treatment and degree of control of lipids in patients with HoFH in the National Dyslipidemia Registry of the Spanish Atherosclerosis Society.

Methods: Subjects with HoFH, confirmed by the presence of two pathogenic variants in the genes mentioned above, included in the registry from 2013 to June 2023 with an updated review were analyzed.

Prevention of cardiometabolic diseases through dietary modifications.

Purpose Of Review: Cardiometabolic diseases (CMDs) increasingly contribute to the cumulative burden of morbidity and mortality worldwide. Here, we reviewed intervention studies using a randomized controlled trial (RCT) design as well as meta-analyses of RCTs aimed at testing the effectiveness of different dietary approaches for CMD prevention.

Recent Findings: Recent studies testing dietary approaches for CMD prevention were summarized narratively, with a focus on interventions based on caloric restriction and fasting, healthy dietary patterns and food-based dietary modifications.

BRIVA-ONE study: 12-month outcomes of brivaracetam monotherapy in clinical practice.

Objective: This study investigated the effectiveness and tolerability of brivaracetam (BRV) monotherapy in a large series of patients with epilepsy.

Method: This was a multicenter, retrospective, observational, non-interventional study in 24 hospitals across Spain. Patients aged ≥18 years who started on BRV monotherapy, either as first-line or following conversion, at least 1 year before database closure were included.

The Challenge of Treating Infections Caused by Metallo-β-Lactamase-Producing Gram-Negative Bacteria: A Narrative Review.

Gram-negative multidrug-resistant (MDR) bacteria, including Enterobacterales, Acinetobacter baumannii, and Pseudomonas aeruginosa, pose a significant challenge in clinical practice. Infections caused by metallo-β-lactamase (MBL)-producing Gram-negative organisms, in particular, require careful consideration due to their complexity and varied prevalence, given that the microbiological diagnosis of these pathogens is intricate and compounded by challenges in assessing the efficacy of anti-MBL antimicrobials. We discuss both established and new approaches in the treatment of MBL-producing Gram-negative infections, focusing on 3 strategies: colistin; the recently approved combination of aztreonam with avibactam (or with ceftazidime/avibactam); and cefiderocol.

Types, behaviour and therapeutic requirements of inflammatory pouch disorders: Results from the RESERVO study of GETECCU.

Background And Aims: Inflammatory pouch disorders exhibit a heterogeneous clinical spectrum and therapeutic requirements have not been properly studied.

Methods: This retrospective, multicentre study included ulcerative colitis patients with ileal pouch construction and were later diagnosed with an inflammatory pouch disorder between 1995 and 2020. Classifications, behaviour and therapies applied were recorded and compared in the long-term.

Physical Exercise and Mechanism Related to Alzheimer's Disease: Is Gut-Brain Axis Involved?

Background: Alzheimer's disease is a progressive neurodegenerative disease characterized by structural changes in the brain, including hippocampal atrophy, cortical thinning, amyloid plaques, and tau tangles. Due to the aging of the global population, the burden of Alzheimer's disease is expected to increase, making the exploration of non-pharmacological interventions, such as physical exercise, an urgent priority.

Results: There is emerging evidence that regular physical exercise may mitigate the structural and functional declines associated with Alzheimer's disease.

Specific training in coloproctology: cross-sectional cohort study through the Young Group of the Spanish Association of Coloproctology.

Introduction: Specific training at surgical super-specialities and its objective evaluation is a challenge nowadays in order to measure the potential benefits that it might add.

Material And Methods: An online survey addressed by the "Grupo Joven de la Asociación Española de Coloproctología" has been performed in order to evaluate the level of formation achieved specifically at colorectal surgery.

Results: 128 surgeons participated, representing 81 colorectal surgery units.

Effect of a Novel Food Rich in Miraculin on the Oral Microbiome of Malnourished Oncologic Patients with Dysgeusia.

Background/objectives: Dysgeusia contributes to the derangement of nutritional status in patients with cancer as well as worsening the quality of life. There has been a lack of effective treatments for taste disorders provided by the pharmaceutical industry.

Methods: This was a pilot randomized, parallel, triple-blind, and placebo-controlled intervention clinical trial in which 31 malnourished patients with cancer and dysgeusia receiving antineoplastic treatment were randomized into three arms [standard dose of DMB (150 mg DMB/tablet), high dose of DMB (300 mg DMB/tablet) or placebo (300 mg freeze-dried strawberry)] for three months.

Practical Guidelines by the Andalusian Group for Nutrition Reflection and Investigation (GARIN) on Nutritional Management of Patients with Chronic Obstructive Pulmonary Disease: A Review.

Malnutrition is common in chronic obstructive pulmonary disease (COPD) patients and is associated with worse lung function and greater severity. This review by the Andalusian Group for Nutrition Reflection and Investigation (GARIN) addresses the nutritional management of adult COPD patients, focusing on Morphofunctional Nutritional Assessment and intervention in clinical practice. A systematic literature search was performed using the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) methodology, followed by critical appraisal based on Scottish Intercollegiate Guidelines Network (SIGN) guidelines.