Oocyte/zygote/embryo maturation arrest: a clinical study expanding the phenotype of NOBOX variants.

Purpose: Primary ovarian insufficiency (POI) is an important cause of female infertility, stemming from follicle dysfunction or premature oocyte depletion. Pathogenic variants in genes such as NOBOX, GDF9, BMP15, and FSHR have been linked to POI. NOBOX, a transcription factor expressed in oocytes and granulosa cells, plays a pivotal role in folliculogenesis.

Occurrence of macrolides resistance in Legionella pneumophila ST188: results of the Belgian epidemiology and resistome investigation of clinical isolates.

Introduction: The incidence of Legionnaires' disease (LD) steadily increases worldwide. Although Legionella pneumophila is known as pathogenic, systematic investigations into antibiotic resistance are scarce, and reports of resistance in isolates are recently emerging.

Methods: Clinical cases and metadata reported to the Belgian National Reference Centre between 2011 and 2022 were retrospectively analysed.

The interplay between mitochondrial DNA genotypes, female infertility, ovarian response, and mutagenesis in oocytes.

Study Question: Is there an association between different mitochondrial DNA (mtDNA) genotypes and female infertility or ovarian response, and is the appearance of variants in the oocytes favored by medically assisted reproduction (MAR) techniques?

Summary Answer: Ovarian response was negatively associated with global non-synonymous protein-coding homoplasmic variants but positively associated with haplogroup K; the number of oocytes retrieved in a cycle correlates with the number of heteroplasmic variants in the oocytes, principally with variants located in the hypervariable (HV) region and rRNA loci, as well as non-synonymous protein-coding variants.

What Is Known Already: Several genes have been shown to be positively associated with infertility, and there is growing concern that MAR may facilitate the transmission of these harmful variants to offspring, thereby passing on infertility. The potential role of mtDNA variants in these two perspectives remains poorly understood.

Unexpected High Prevalence of Focal Facial Dermal Dysplasia (FFDD) Type IV Is Linked to a Founder Effect in the Belgian Population.

Focal facial dermal dysplasia (FFDD) type IV is a rare inherited facial defect caused by biallelic variants in CYP26C1. This study reports two novel Belgian FFDD type IV cases, both homozygous for a recurrent CYP26C1 frameshift variant, with a common 700 kb haplotype, indicating a founder effect.

Targeted therapy for older patients with an oncogene driven non-small cell lung cancer: Recommendations from a SIOG expert group.

Lung cancer is mostly a disease of aging with approximately half of newly diagnosed patients being 70 years or older. Treatment decisions in this population pose unique challenges because of their heterogeneity with regards to daily functioning, cognition, organ function, comorbidities and polypharmacy, their underrepresentation in clinical trials and the impact of treatment on patient-centered outcomes, particularly in frail patients. The advent of targeted therapies and immunotherapy has revolutionized the management of advanced non-small cell lung cancer (NSCLC).

AI-derived automated quantification of cardiac chambers and myocardium from non-contrast CT: Prediction of major adverse cardiovascular events in asymptomatic subjects.

Background And Aims: The significance of left ventricular mass and chamber volumes from non-contrast computed tomography (CT) for predicting major adverse cardiovascular events (MACE) has not been studied. Our objective was to evaluate the role of artificial intelligence-enabled multi-chamber cardiac volumetry from non-contrast CT for long-term risk stratification in asymptomatic subjects without known coronary artery disease.

Methods: Our study included 2022 asymptomatic individuals (55.

Unusual Presentation of Hyperandrogenism in Postmenopausal Women: A Report of Two Patients With Leydig Cell Hyperplasia.

Hyperandrogenism is a highly prevalent and debilitating hormonal disturbance encountered in women presenting with variable phenotypical features. Causes encompass a large spectrum of tumoral and nontumoral etiologies, depending on the patients' age. We report two postmenopausal patients with an unusual etiology of hyperandrogenism.

From knife to needle - the trend of vascular neurosurgery in Belgium.

Introduction: The management of neurovascular pathologies has changed globally over the last few decades. Endovascular treatments are increasing, and fewer surgical procedures are performed.

Research Question: Evaluate the evolution of vascular neurosurgery in Belgium over the last 30 years and compare with other countries.

Dose-Limiting Toxicities of Paclitaxel in Breast Cancer Patients: Studying Interactions Between Pharmacokinetics, Physical Activity, and Body Composition-A Protocol for an Observational Cohort Study.

: Paclitaxel (PTX), a commonly used chemotherapy for breast cancer (BC), is associated with dose-limiting toxicities (DLTs) such as peripheral neuropathy and neutropenia. These toxicities frequently lead to dose reductions, treatment delays, or therapy discontinuation, negatively affecting patients' quality of life and clinical outcomes. Current dosing strategies based on body surface area (BSA) fail to account for individual variations in body composition (skeletal muscle mass (SMM) and adipose tissue (AT) mass) and physical activity (PA), which can influence drug metabolism and toxicity.

Fostering consensus for the implementation of a clinical pharmacy specialization: a nominal group technique approach with pharmacy stakeholders.

Objectives: To explore the need for a specialization in clinical pharmacy and the model to be adopted, as perceived by Portuguese stakeholders.

Methods: A nominal group technique through two online meetings addressed four questions: pros and cons of specialization models used internationally; preferred model for Portugal; and success factors for implementation.

Key Findings: All nine stakeholders recognized the need to train pharmacists in clinical pharmacy and agreed specialization is essential, through a model including strong clinical undergraduate education, supplemented with postgraduate training.

Phenotyping atherosclerotic plaque and perivascular adipose tissue: signalling pathways and clinical biomarkers in atherosclerosis.

Computed tomography coronary angiography provides a non-invasive evaluation of coronary artery disease that includes phenotyping of atherosclerotic plaques and the surrounding perivascular adipose tissue (PVAT). Image analysis techniques have been developed to quantify atherosclerotic plaque burden and morphology as well as the associated PVAT attenuation, and emerging radiomic approaches can add further contextual information. PVAT attenuation might provide a novel measure of vascular health that could be indicative of the pathogenetic processes implicated in atherosclerosis such as inflammation, fibrosis or increased vascularity.

Addressing the role of surgery in brain tumour trials: A report from the neurosurgery committee of the EORTC brain tumour group.

The Brain Tumor Group (BTG) of the European Organization for Research and Treatment of Cancer (EORTC) conducts academic clinical trials and translational research to improve clinical management of patients with primary and secondary brain tumors. The EORTC BTG has traditionally played an important role in providing evidence and thus advancing the field, albeit with a main focus on radiotherapy and pharmacotherapy in gliomas. Although examples of well-designed neuro-oncological surgical trials can be found, evidence in surgical neuro-oncology predominantly includes data from uncontrolled prospective series or retrospective cohorts.

MENTAL HEALTH OUTCOMES IN COVID-19 SURVIVORS: ROLE OF CLINICAL PREDICTORS.

The COVID-19 pandemic had a major worldwide impact resulting in more than 7 million deaths due to COVID-19. Mental health issues, including anxiety, depression, and post-traumatic stress disorder (PTSD) have been observed in COVID-19 survivors worldwide. This study aimed to investigate the psychological impact of COVID-19 survivors three months after discharge from hospital and examine associated risk factors.

Treatments and Treatment Predictors in Patients With Substance Use Disorders and Comorbid Attention-Deficit/Hyperactivity Disorder: First Results From the International Naturalistic Cohort Study of ADHD and SUD (INCAS).

Treatment of attention-deficit/ hyperactivity disorder (ADHD) in patients with a substance use disorder (SUD) and comorbid ADHD (SUD +ADHD) may have positive effects on the outcome of both conditions, but controversy exists regarding the preferred ADHD treatment in these patients. Little is known about the treatments that are provided for these patients in routine addiction care practice and the factors that are associated with treatment provision. To describe the treatments provided in everyday clinical practice and to explore factors associated with ADHD treatment provision in patients with SUD +ADHD.

Impact of repeat human leukocyte antigen mismatches on kidney graft survival: A contemporary Collaborative Transplant Study analysis.

Repeat human leukocyte antigen (HLA) mismatches (RMM) have been historically associated with an increased risk of graft loss after repeat kidney transplantation, in particular HLA-DR RMM in sensitized recipients. As routine use of sensitive assays can at present prevent the transplantation of RMM in hosts with donor-specific antibodies, we hypothesized that RMM would no longer be associated with graft loss. We performed a registry analysis of the Collaborative Transplant Study database including 6711 patients who received a second kidney transplant (KT) between 2010 and 2021, with at least 1 HLA-A, HLA-B, or HLA-DR mismatch.

Combining evolution and protein language models for an interpretable cancer driver mutation prediction with D2Deep.

The mutations driving cancer are being increasingly exposed through tumor-specific genomic data. However, differentiating between cancer-causing driver mutations and random passenger mutations remains challenging. State-of-the-art homology-based predictors contain built-in biases and are often ill-suited to the intricacies of cancer biology.

Comparison of whole genome sequencing typing tools for the typing of Belgian Legionella pneumophila outbreaks isolates.

Whole genome sequencing (WGS) marks a turning point for outbreak investigations for microorganisms related to public health matters, like Legionella pneumophila (Lp). Here, we evaluated the available Lp WGS typing tools for isolates of previously documented Belgian outbreaks, as well as small groups of related and non-related isolates. One reference strain and 77 clinical and environmental isolates were evaluated.

Pertactin deficiency of : Insights into epidemiology, and perspectives on surveillance and public health impact.

Pertussis resurgence has been documented even in countries with high pediatric vaccine coverage. The proportion of isolates not expressing pertactin (PRN) has increased in several countries where acellular pertussis (aP) vaccines are used. We systematically reviewed published literature up to July 2023 on PRN-negative isolates in MEDLINE and Embase with no geographical limitations, complemented with a gray literature search.

Regorafenib Combined with BRAF/MEK Inhibitors for the Treatment of Refractory Melanoma Brain Metastases.

Background: There are no active treatment options for patients with progressive melanoma brain metastases (MBM) failing immune checkpoint blockade (ICB) and BRAF/MEK inhibitors (BRAF/MEKi). Regorafenib (REGO), an oral multi-kinase inhibitor (incl. RAF-dimer inhibition), can overcome adaptive resistance to BRAF/MEKi in preclinical models.

Improvement in quality of life in patients treated with lebrikizumab monotherapy is mediated by improvement in itch and sleep: Results from two Phase 3 trials in patients with moderate-to-severe atopic dermatitis.

Pruritus is a hallmark symptom of atopic dermatitis (AD) and is known to worsen patients' health-related quality of life. Lebrikizumab is a high-affinity monoclonal antibody which binds IL-13, a dominant cytokine implicated in AD. This study includes data from two Phase 3 randomized controlled trials assessing the efficacy and safety of lebrikizumab in patients with moderate-to-severe AD, ADvocate1 (NCT04146363) and ADvocate2 (NCT04178967).

Lunar dust dermatologic considerations for NASA's artemis program and the gateway space station: a narrative review.

The Artemis program and lunar gateway present an opportunity to advance NASA's presence away from Earth's orbit and back to the Moon. Astronauts will be faced with many dermatological challenges unique to the lunar environment, such as the surface material on the Moon. We used PubMed and Google Scholar to perform a literature review with articles related to the effects of lunar dust on skin collated and analyzed to assess the dermatological implications of these missions.