Deleterious coding variation associated with autism is consistent across populations, as exemplified by admixed Latin American populations.

Unlabelled: The past decade has seen remarkable progress in identifying genes that, when impacted by deleterious coding variation, confer high risk for autism spectrum disorder (ASD), intellectual disability, and other developmental disorders. However, most underlying gene discovery efforts have focused on individuals of European ancestry, limiting insights into genetic risks across diverse populations. To help address this, the Genomics of Autism in Latin American Ancestries Consortium (GALA) was formed, presenting here the largest sequencing study of ASD in Latin American individuals (n>15,000).

Understanding how cardiorespiratory training is implemented to address cardiorespiratory fitness in adults following a stroke: a systematic review.

Purpose: To systematically review the evidence investigating the implementation of cardiorespiratory (CR) training in adults following a stroke and to understand how interventions are prescribed to address cardiorespiratory fitness (CRF).

Methods: Medline, CINAHL, EMBASE, EMCARE, Scopus, PEDro and ProQuest were searched from inception until January 2024. Inclusion criteria were studies that included adults following a stroke, investigated CR training interventions and used standardised CRF assessments.

InTraSeq: A Multimodal Assay that Uncovers New Single-Cell Biology and Regulatory Mechanisms.

Single-cell RNA sequencing (scRNA-seq) has revolutionized cell biology by enabling the profiling of transcriptomes at a single-cell resolution, leading to important discoveries that have advanced our understanding of cellular and tissue heterogeneity, developmental trajectories, and disease progression. Despite these important advances, scRNA-seq is limited to measuring the transcriptome providing a partial view of cellular function. To address this limitation, multimodal scRNA-seq assays have emerged, allowing for the simultaneous measurement of RNA expression and protein.

An open-label study evaluating the safety and efficacy of AMO-01 for the treatment of seizures in Phelan-McDermid syndrome.

Phelan-McDermid syndrome (PMS) is a neurodevelopmental disorder caused by haploinsufficiency of the SHANK3 gene. Approximately 25% of individuals with PMS have epilepsy. Treatment of epilepsy in PMS may require multiple anticonvulsants, and in a minority of cases, seizures remain poorly controlled.

Candidate stem cell isolation and transplantation in Hexacorallia.

Stem cells are the foundation for cell therapy due to their ability to self-renew, differentiate into other cell types, and persist throughout the life of an organism. Stem cell isolation and transplantation have not yet been established in Hexacorallia, a cnidarian subclass containing stony corals and sea anemones. Here, we demonstrate that candidate stem cells in the hexacorallian Nematostella vectensis can be transplanted into adult animals.

Expert Consensus on Clinical Recommendations for Fractional Ablative CO Laser, in Facial Skin Rejuvenation Treatment.

Background: For three decades, fractional ablative CO lasers have been used for skin rejuvenation. With breakthroughs in laser technology and expanding popularity, new recommendations and suggestions arise on a regular basis.

Objective: To develop up-to-date clinical recommendations on safety measures, therapeutic framework, and techniques to improve treatment outcomes.

ENGOT-en11/GOG-3053/KEYNOTE-B21: a randomised, double-blind, phase III study of pembrolizumab or placebo plus adjuvant chemotherapy with or without radiotherapy in patients with newly diagnosed, high-risk endometrial cancer.

Background: Pembrolizumab plus chemotherapy provides clinically meaningful benefit as first-line therapy for advanced (locoregional extension and residual disease after surgery)/metastatic/recurrent mismatch repair-proficient (pMMR) and mismatch repair-deficient (dMMR) endometrial cancer, with greater magnitude of benefit in the dMMR phenotype. We evaluated the addition of pembrolizumab to adjuvant chemotherapy (with/without radiation therapy) among patients with newly diagnosed, high-risk endometrial cancer without any residual macroscopic disease following curative-intent surgery.

Methods: We included patients with histologically confirmed high-risk [International Federation of Gynecology and Obstetrics (FIGO) stage I/II of non-endometrioid histology or endometrioid histology with p53/TP53 abnormality, or stage III/IVA of any histology] endometrial cancer following surgery with curative intent and no evidence of disease postoperatively, with no prior radiotherapy or systemic therapy.

Shark shuffle: segregated co-occurrence of multiple dusky and sandbar lineages at a human-altered habitat in the eastern Mediterranean Sea.

Requiem sharks (genus Carcharhinus) have previously been reported to form large aggregations around marine infrastructures in the eastern Mediterranean Sea. While this behaviour may offer fitness advantages at the individual level, the implications of extended residency at human-altered habitats for population persistence have yet to be assessed. In this work, we investigated the phylogeographic and demographic composition of sharks near a coal-fired power and desalination station in Israel.

Exploring the link between parents' differentiation of self and children's externalizing behavior problems: the mediating role of need-supportive vs. need-frustrating parenting practices.

Objective: Externalizing behavior problems (EBPs) are common in children, with significant long-term impact on the child and family members. Parents, particularly mothers, of children with EBPs often experience heightened emotional distress. One crucial factor affecting parents' ability to manage this distress is their level of differentiation-of-self (DOS).

Machine learning to predict completion of treatment for pancreatic cancer.

Background: Chemotherapy enhances survival rates for pancreatic cancer (PC) patients postsurgery, yet less than 60% complete adjuvant therapy, with a smaller fraction undergoing neoadjuvant treatment. Our study aimed to predict which patients would complete pre- or postoperative chemotherapy through machine learning (ML).

Methods: Patients with resectable PC identified in our institutional pancreas database were grouped into two categories: those who completed all intended treatments (i.

Transient peripheral blood transcriptomic response to ketamine treatment in children with ADNP syndrome.

Activity-dependent neuroprotective protein (ADNP) syndrome is a rare neurodevelopmental disorder resulting in intellectual disability, developmental delay and autism spectrum disorder (ASD) and is due to mutations in the ADNP gene. Ketamine treatment has emerged as a promising therapeutic option for ADNP syndrome, showing safety and apparent behavioral improvements in a first open label study. However, the molecular perturbations induced by ketamine remain poorly understood.

Efficacy and safety of niraparib in patients aged 65 years and older with advanced ovarian cancer: Results from the PRIMA/ENGOT-OV26/GOG-3012 trial.

Objective: To evaluate the impact of age on the efficacy and safety of niraparib first-line maintenance therapy in patients with newly diagnosed advanced ovarian cancer with a complete/partial response to first-line platinum-based chemotherapy.

Methods: Post hoc analysis of the phase 3 PRIMA/ENGOT-OV26/GOG-3012 study (NCT02655016). Patients in the intent-to-treat population were categorized according to age at baseline (<65 years vs ≥65 years), and progression-free survival (PFS), safety, and health-related quality of life (HRQOL) were evaluated for each age subgroup (clinical cutoff date, May 17, 2019).

Factors associated with immune responses to SARS-CoV-2 vaccination in individuals with autoimmune diseases.

Patients with autoimmune diseases are at higher risk for severe infection due to their underlying disease and immunosuppressive treatments. In this real-world observational study of 463 patients with autoimmune diseases, we examined risk factors for poor B and T cell responses to SARS-CoV-2 vaccination. We show a high frequency of inadequate anti-spike IgG responses to vaccination and boosting in the autoimmune population but minimal suppression of T cell responses.

An analysis of long-term clinical outcome following the use of excimer laser coronary atherectomy in a large UK PCI center.

Background: Excimer laser atherectomy (ELCA) is an established adjunctive technique to facilitate acute success in percutaneous coronary intervention (PCI). Despite this there are a lack of contemporary outcome data, particulary longer-term, forpatients treated with ELCA PCI.

Aims: To evaluate the contemporary use ofELCA in PCI, the frequency of periprocedural complications and the longer-term outcomes associated with ELCA PCI.

mTORC1 regulates cell survival under glucose starvation through 4EBP1/2-mediated translational reprogramming of fatty acid metabolism.

Energetic stress compels cells to evolve adaptive mechanisms to adjust their metabolism. Inhibition of mTOR kinase complex 1 (mTORC1) is essential for cell survival during glucose starvation. How mTORC1 controls cell viability during glucose starvation is not well understood.

Omalizumab withdrawal outcomes in chronic spontaneous urticaria are linked with baseline IgE and eosinophil levels.

Background: Chronic Spontaneous Urticaria (CSU) is an immune-mediated skin disease that may require prolonged treatments. Currently, there are no recommendations for treatment discontinuation once CSU symptoms are controlled, particularly among patients primarily diagnosed with severe CSU.

Objective: In this real-life study we aimed to describe our experience of omalizumab (Oma) treatment withdrawal in CSU and define biomarkers related to these outcomes.

Clinical, genetic, and cognitive correlates of seizure occurrences in Phelan-McDermid syndrome.

Background: Phelan-McDermid syndrome (PMS) is a genetic neurodevelopmental disorder caused by SHANK3 haploinsufficiency and is associated with an increased risk for seizures. Previous literature indicates that around one third of individuals with PMS also have epilepsy or seizures, with a wide range of types and ages of onset. Investigating the impact of seizures on intellectual and adaptive functioning for PMS is a primary concern for caregivers and is important to understanding the natural history of this syndrome.

Craniofacial chondrogenesis in organoids from human stem cell-derived neural crest cells.

Knowledge of cell signaling pathways that drive human neural crest differentiation into craniofacial chondrocytes is incomplete, yet essential for using stem cells to regenerate craniomaxillofacial structures. To accelerate translational progress, we developed a differentiation protocol that generated self-organizing craniofacial cartilage organoids from human embryonic stem cell-derived neural crest stem cells. Histological staining of cartilage organoids revealed tissue architecture and staining typical of elastic cartilage.

Consensus reporting guidelines to address gaps in descriptions of ultra-rare genetic conditions.

Genome-wide sequencing and genetic matchmaker services are propelling a new era of genotype-driven ascertainment of novel genetic conditions. The degree to which reported phenotype data in discovery-focused studies address informational priorities for clinicians and families is unclear. We identified reports published from 2017 to 2021 in 10 genetics journals of novel Mendelian disorders.

Monitoring jellyfish outbreaks along Israel's Mediterranean coast using digital footprints.

With mounting global concerns about jellyfish outbreaks, monitoring their occurrence remains challenging. Tapping into the wealth of digital data that internet users share online, which includes reports of jellyfish sightings, may provide an alternative or complement to more conventional expert-based or citizen science monitoring. Here, we explore digital footprints as a data source to monitor jellyfish outbreaks along the Israeli Mediterranean coast.

Regulation of early spermatogenesis in the giant prawn Macrobrachium rosenbergii by a GCL homolog†.

The germ cell-less gene is crucial for gonad development in various organisms. Early interventions in its expression suggested a regulatory role at the mitotic stages of spermatogenesis, and its early knockout resulted in complete sterility in Drosophila. Genomic and transcriptomic data available for the catadromous giant prawn Macrobrachium rosenbergii enabled the identification of a germ cell-less homolog for this species, which we termed MroGCL (mRNA accession number OQ533056).