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.

Assessing the Image Quality of Digitally Reconstructed Radiographs from Chest CT.

Rising computed tomography (CT) workloads require more efficient image interpretation methods. Digitally reconstructed radiographs (DRRs), generated from CT data, may enhance workflow efficiency by enabling faster radiological assessments. Various techniques exist for generating DRRs.

Social Network Types in Autistic Adults and Its Associations with Mastery, Quality of Life, and Autism Characteristics.

Research shows heterogeneity in experiences of social contact and social networks in autistic adults. In this study, we aim to identify clusters of social support networks and investigate associations of clusters with mastery, quality of life, and autism characteristics. Autistic adults (N = 381; 45.

Green companions: Affordances of human-tree relationships.

Trees offer multiple benefits, including impacts on physical and mental health. In this interdisciplinary study, we explored the relationships humans develop with specific favourite trees based on our survey data (n = 158) collected in the Netherlands. Here, we examined action possibilities (affordances) provided by trees, including immaterial actions, such as memorisation or the enjoyment of beauty.

Pulsed laser deposition assisted epitaxial growth of cesium telluride photocathodes for high brightness electron sources.

The development of high-brightness electron sources is critical to state-of-the-art electron accelerator applications like X-ray free electron laser (XFEL) and ultra-fast electron microscopy. Cesium telluride is chosen as the electron source material for multiple cutting-edge XFEL facilities worldwide. This manuscript presents the first demonstration of the growth of highly crystalized and epitaxial cesium telluride thin films on 4H-SiC and graphene/4H-SiC substrates with ultrasmooth film surfaces.

Implementation of intraoperative procedures to prevent anastomotic leak in low anterior rectal resections: a pilot study for a novel technique to evaluate anastomotic vascularization.

Introduction: Altered vascular microcirculation is recognized as a risk factor for anastomotic leakage (AL) in colorectal surgery. However, few studies evaluated its impact on AL using different devices, with heterogeneous results. The present study reported the initial experience measuring gut microcirculatory density and flow with the aid of incidence dark-field (IDF) videomicroscopy (Cytocam, Braedius, Amsterdam, The Netherlands) comparing its operative outcome using a propensity score matching (PSM) model based on age, gender, and Charlson Comorbidity Index (CCI).

International myeloma working group immunotherapy committee recommendation on sequencing immunotherapy for treatment of multiple myeloma.

T-cell redirecting therapy (TCRT), specifically chimeric antigen receptor T-cell therapy (CAR T-cells) and bispecific T-cell engagers (TCEs) represent a remarkable advance in the treatment of multiple myeloma (MM). There are several products available around the world and several more in development targeting primarily B-cell maturation antigen (BCMA) and G protein-coupled receptor class C group 5 member D (GRPC5D). The relatively rapid availability of multiple immunotherapies brings the necessity to understand how a certain agent may affect the safety and efficacy of a subsequent immunotherapy so MM physicians and patients can aim at optimal sequential use of these therapies.

NIRS-BIDS: Brain Imaging Data Structure Extended to Near-Infrared Spectroscopy.

Functional near-infrared spectroscopy (fNIRS) is an increasingly popular neuroimaging technique that measures cortical hemodynamic activity in a non-invasive and portable fashion. Although the fNIRS community has been successful in disseminating open-source processing tools and a standard file format (SNIRF), reproducible research and sharing of fNIRS data amongst researchers has been hindered by a lack of standards and clarity over how study data should be organized and stored. This problem is not new in neuroimaging, and it became evident years ago with the proliferation of publicly available neuroimaging datasets.

A compendium of Amplification-Related Gain Of Sensitivity genes in human cancer.

While the effect of amplification-induced oncogene expression in cancer is known, the impact of copy-number gains on "bystander" genes is less understood. We create a comprehensive map of dosage compensation in cancer by integrating expression and copy number profiles from over 8000 tumors in The Cancer Genome Atlas and cell lines from the Cancer Cell Line Encyclopedia. Additionally, we analyze 17 cancer open reading frame screens to identify genes toxic to cancer cells when overexpressed.

msiFlow: automated workflows for reproducible and scalable multimodal mass spectrometry imaging and microscopy data analysis.

Multimodal imaging by matrix-assisted laser desorption ionisation mass spectrometry imaging (MALDI MSI) and microscopy holds potential for understanding pathological mechanisms by mapping molecular signatures from the tissue microenvironment to specific cell populations. However, existing software solutions for MALDI MSI data analysis are incomplete, require programming skills and contain laborious manual steps, hindering broadly applicable, reproducible, and high-throughput analysis to generate impactful biological discoveries. Here, we present msiFlow, an accessible open-source, platform-independent and vendor-neutral software for end-to-end, high-throughput, transparent and reproducible analysis of multimodal imaging data.

Genetic coupling of enhancer activity and connectivity in gene expression control.

Gene enhancers often form long-range contacts with promoters, but it remains unclear if the activity of enhancers and their chromosomal contacts are mediated by the same DNA sequences and recruited factors. Here, we study the effects of expression quantitative trait loci (eQTLs) on enhancer activity and promoter contacts in primary monocytes isolated from 34 male individuals. Using eQTL-Capture Hi-C and a Bayesian approach considering both intra- and inter-individual variation, we initially detect 19 eQTLs associated with enhancer-eGene promoter contacts, most of which also associate with enhancer accessibility and activity.

Evidence-Based Surgical Guidelines for Treating Children With Rhabdomyosarcoma.

Background: Surgery remains the cornerstone of treatment for rhabdomyosarcoma (RMS) in children. However, there is considerable variation in surgical management practices worldwide, highlighting the need for standardized Clinical Practice Guidelines (CPG).

Methods: The CPG development involved assembling a multidisciplinary group, prioritizing 10 key topic areas, conducting evidence searches, and synthesizing findings.

Cerebral injury and long-term neurodevelopment impairment in children following severe fetomaternal transfusion: a retrospective cohort study.

Objective: Fetomaternal transfusion (FMT) is associated with increased perinatal mortality and morbidity, but data on postnatal outcomes are scarce. Our aim was to determine the incidence of adverse short-termand long-term sequelae of severe FMT.

Design: Retrospective cohort study.

Strengthening advanced therapy for sickle cell disease in Africa: experience from sickle cell disease centre in Dar es Salaam, Tanzania.

Despite progress in healthcare services for individuals living with sickle cell disease (SCD) in Africa, substantial gaps remain in advanced treatments for SCD. To help address this burden, Tanzania has established one of the largest single-centre SCD programmes in the world and developed an advanced therapy programme for SCD focused on patient engagement and advocacy, clinical activities involving exchange blood transfusion (ExBT) and haematopoietic stem cell transplant (HSCT), gene therapy (GT) preparedness, and enabling partnerships. This report describes the programme's genesis, structure and progress achieved.

Impact of Antibiotic Shortages on Antibiotic Utilisation in the Community.

Background: Drug shortages are an increasing and worldwide problem. Oral antibiotics are one of the most used medicines worldwide and have recently been affected by drug shortages. Despite this, little is known about the impact of antibiotic shortages on prescribing practices.

Unexpected finding of encapsulating peritoneal sclerosis: mind the cocoon.

Here, we present a fatal case of a man in his 40s with encapsulating peritoneal sclerosis (EPS). In retrospect, a spot diagnosis on the abdominal CT scan. The patient presented with progressive abdominal complaints of pain and vomiting over the last 2 months.

Two unrelated distal genes activated by a shared enhancer benefit from localizing inside the same small topological domain.

Enhancers are tissue-specific regulatory DNA elements that can activate transcription of genes over distance. Their target genes most often are located in the same contact domain-chromosomal entities formed by cohesin DNA loop extrusion and typically flanked by CTCF-bound boundaries. Enhancers shared by multiple unrelated genes are underexplored but may be more common than anticipated.

Informed Consent and Shared Decision-Making in Modern Medicine. Case-based Approach, Current Gaps and Practical Proposal.

Advances in personalized medicine and Systems Biology have introduced probabilistic models and error discovery to cardiovascular care, aiding disease prevention and procedural planning. However, clinical application faces cultural, technical, and methodological hurdles. Patient autonomy remains essential, with shared decision-making (SDM) gaining importance in managing complex cardiovascular treatment options.

Protein glycation compromises the bioavailability of milk protein-derived lysine in vivo in healthy adult males: a double-blind randomized cross-over trial.

Background: Industrial processing and storage of milk products can strongly increase protein glycation level. Previously, we have reported that ingestion of highly glycated milk protein attenuates the post-prandial rise in plasma lysine concentrations when compared to the ingestion of an equivalent amount of milk protein with a low glycation level. Whether the attenuated increase in plasma lysine availability is attributed to compromised protein digestion and subsequent lysine absorption remains to be established.

Advances in the therapeutic potentials of ligands of the apelin receptor APJ.

Angiotensin II protein J receptor, APJ, is a type A G protein coupled receptor. Endogenous apelin and elabela peptides stimulate APJ via distinct signalling profiles. A complex signalling map of elabela-stimulated APJ was published in 2022.

Time-dependent fear memory generalization triggered by phosphodiesterase 5 inhibition during reconsolidation.

Fear generalization, a lack of discrimination between safe and unsafe cues, is a hallmark of posttraumatic stress disorder. The phosphodiesterase 5 (PDE5) regulates the cyclic guanosine monophosphate (cGMP) pathway, which has been proposed to be involved in fear memory generalization. However, whether PDE5 activity underlies fear memory generalization remains unexplored.

Long term outcome after surgical tetralogy of Fallot repair at young age: Longitudinal follow-up up to 50 years after surgery.

Background: Little is known about the very long-term outcome in Tetralogy of Fallot (ToF) patients.

Objectives: To prospectively evaluate clinical outcome and quality-of-life after surgical repair of ToF.

Methods: Single-centre, longitudinal cohort-study evaluating every decade 144 ToF patients who underwent surgical repair <15 years of age between 1968 and 1980.

Electrophysiological correlates of selective speech adaptation.

Selective speech adaptation refers to the phenomenon where repeated exposure to identical speech sounds temporarily reduces sensitivity to that sound. We used EEG to track the time-course of this effect. Participants were first exposed to the Dutch vowels /e/ or /ø/ and subsequently identified ambiguous sounds halfway between these phonemes.

Pitfalls and practical suggestions for using local field potential recordings in DBS clinical practice and research.

Local field potential (LFP) recordings using chronically implanted sensing-enabled stimulators are a powerful tool for indexing symptom presence and severity in neurological and neuropsychiatric disorders, and for enhancing our neurophysiological understanding of brain processes. LFPs have gained interest as input signals for closed-loop deep brain stimulation (DBS) and can be used to inform DBS parameter selection. LFP recordings using chronically implanted sensing-enabled stimulators have various implementational challenges.