A Novel Homozygous Mutation Causes Ovarian Dysgenesis and Primary Amenorrhea.

Context: Despite a growing number of studies, the genetic etiology in many cases of ovarian dysgenesis is incompletely understood.

Objectives: This work aimed to study the genetic etiology causing absence of spontaneous pubertal development, hypergonadotropic hypogonadism, and primary amenorrhea in 2 sisters.

Methods: Whole-exome sequencing was performed on DNA extracted from peripheral lymphocytes of 2 Palestinian sisters born to consanguineous parents.

Sensitive ratiometric detection of Fumonisin B using a reusable Ag-pSi SERS platform.

Food and agricultural commodities endure consistent contamination by mycotoxins, low molecular weight fungal metabolites, which pose severe health implications to humans together with staggering economic losses. Herein, a ratiometric aptasensor was constructed using silver-coated porous silicon (Ag-pSi) used as an efficient surface-enhanced Raman scattering (SERS) substrate. The bioassay included direct detection of fumonisin B (FB), an abundant and widespread contaminant, by a specific aptamer sequence immobilized on the porous transducer.

De-novo Genome Assembly of the Edwardsiid Anthozoan Edwardsia elegans.

Cnidarians (sea anemones, corals, hydroids, and jellyfish) are a key outgroup for comparisons with bilaterial animals to trace the evolution of genomic complexity and diversity within the animal kingdom, as they separated from most other animals 100s of millions of years ago. Cnidarians have extensive diversity, yet the paucity of genomic resources limits our ability to compare genomic variation between cnidarian clades and species. Here we report the genome for Edwardsia elegans, a sea anemone in the most specious genus of the family Edwardsiidae, a phylogenetically important family of sea anemones that contains the model anemone Nematostella vectensis.

Diagnostic clues in herpes encephalitis following radiation therapy.

Introduction: Herpes encephalitis is known to affect patients undergoing brain radiotherapy, but early diagnosis and treatment, the foremost determinants of disease outcome, remain challenging in this patient population. This can be due to attribution of symptoms to the brain tumor and radiation side effects, as well as patients' atypical clinical presentation. Here we sought to highlight pearls and pitfalls in the clinical course and diagnostic workup which may facilitate timely diagnosis and improve disease outcome.

Clinical and Imaging Characteristics of Posterior Scleritis in Children.

Background: Posterior scleritis (PS) is a rare phenotype of scleritis. Comprehensive epidemiological studies on PS in children are limited. We aimed to report on its clinical and imaging features in one of the largest pediatric series to date.

Probing spin effects in phycocyanin using Janus-like ferromagnetic microparticles.

In an era of interdisciplinary scientific research, new methodologies are necessary to simultaneously advance several fields of study. One such case involves the measurement of electron spin effects on biological systems. While magnetic effects are well known in biology, recent years have shown a surge in published evidence isolating the dependence on spin, rather than magnetic field, in biological contexts.

Violence against women and girls research: Leveraging gains across disciplines.

Violence against women and girls (VAWG) is a leading cause of mortality and morbidity worldwide, linked to numerous health, economic, and human rights outcomes. Target 5.2 of the Sustainable Development Goals calls for elimination of all forms of VAWG; however, progress toward achieving this goal has been inadequate.

Dissociative and Deep Sedations Administered by Trained Unsupervised Pediatric Residents in Israeli Emergency Departments.

Study Objective: To cover pediatric emergency physicians' off-hours, third-year pediatric residents in Israel are trained for unsupervised administration of emergency department (ED) dissociative and deep sedation. We assessed the frequency of critical sedation events associated with resident-performed sedations.

Methods: We conducted a retrospective chart review on all patients receiving intravenous sedation across 10 pediatric EDs between January 2018 and September 2022.

Alternative splicing of modulatory immune receptors in T lymphocytes: a newly identified and targetable mechanism for anticancer immunotherapy.

Alternative splicing (AS) is a mechanism that generates translational diversity within a genome. Equally important is the dynamic adaptability of the splicing machinery, which can give preference to one isoform over others encoded by a single gene. These isoform preferences change in response to the cell's state and function.

Mapping cells through time and space with moscot.

Single-cell genomic technologies enable the multimodal profiling of millions of cells across temporal and spatial dimensions. However, experimental limitations hinder the comprehensive measurement of cells under native temporal dynamics and in their native spatial tissue niche. Optimal transport has emerged as a powerful tool to address these constraints and has facilitated the recovery of the original cellular context.

'Occupational experience' in occupational therapy and occupational science literature: A scoping review.

Introduction: 'Occupational experience' (OE) is widely used within the occupational therapy profession. However, it lacks a clear and unified definition in the profession's consensus practice frameworks and seminal models. Therefore, this study aimed to examine how OE has been defined and described in both occupational therapy and occupational science literature.

Long-term Outcomes of Laparoscopic Sacrohysteropexy with SERATEX SlimSling Mesh: A Retrospective Case Series.

Introduction And Hypothesis: Pelvic organ prolapse (POP) surgery has evolved toward minimally invasive techniques. Laparoscopic sacrohysteropexy (LSHP) is associated with reduced morbidity and lower mesh exposure risks. This study evaluates the long-term outcomes of LSHP using the SERATEX SlimSling mesh for isolated uterine prolapse.

Comparison of Guided and Unguided Botulinum Injections for Cervical Dystonia: EMG, Ultrasound, and Anatomic Landmarks.

Background: Botulinum Toxin type A (BonTA) is the preferred treatment for Cervical Dystonia (CD). However, the success rate is often suboptimal. One of the reasons for treatment failure is the in accuracy of injections.

Polycystic ovary syndrome and morphokinetic embryonic development: A case-control study evaluating 791 embryos.

Objective: To investigate the association between Polycystic Ovary Syndrome (PCOS) and the rate of embryo development, using time-lapse monitoring systems (TLM), compared to a control group of women with mechanical (tubal) factor infertility.

Design: A retrospective case-control study conducted in a university affiliated IVF unit.

Patients: Women with PCOS undergoing in-vitro fertilization (IVF) treatments and those with non-PCOS controls with tubal factor infertility only.

Metagenome-informed metaproteomics of the human gut microbiome, host, and dietary exposome uncovers signatures of health and inflammatory bowel disease.

Host-microbiome-dietary interactions play crucial roles in regulating human health, yet their direct functional assessment remains challenging. We adopted metagenome-informed metaproteomics (MIM), in mice and humans, to non-invasively explore species-level microbiome-host interactions during commensal and pathogen colonization, nutritional modification, and antibiotic-induced perturbation. Simultaneously, fecal MIM accurately characterized the nutritional exposure landscape in multiple clinical and dietary contexts.

Actual dishonest behaviour versus self-perception as an honest student: Real time observational and self-report study.

Background: Academic dishonesty poses significant challenges in educational settings, particularly among nursing students. Efforts to mitigate this issue through pedagogical and technological approaches have seen limited success. Diverse theoretical explanations for academic dishonesty underscore the need for further exploration of this multifaceted phenomenon.

Meanings of anti-sexual assault activism among adults who underwent child sexual abuse: "I survived by knowing that I was going to act".

Background: Despite the acknowledged importance of advocacy among individuals who experienced violence, there is limited scholarly exploration of how adult individuals who experienced child sexual abuse (CSA) perceive and engage in anti-sexual assault activism.

Objective: This study, conducted in Israel by the Israeli Public Inquiry on CSA, explores how adult activists, who are also CSA survivors, perceive anti-sexual assault activism, the meanings they attribute to their involvement, and how their childhood trauma connects to their activism.

Methods: The study employed semi-structured interviews with 14 individuals who experienced CSA, predominantly from the Jewish community.

The First Autochthonous Case of Actinomycetoma in a Bedouin Patient in the Israeli Negev Region.

We report the first autochthonous case of actinomycetoma in a Bedouin patient from Israel's Negev Region. The patient presented with plantar and interdigital (web) nodular lesions. The time to diagnosis from the first medical contact was 4 years, and several treatment modifications were made until a satisfactory clinical response was achieved.

Functional myocardial assessment in cine cardiac computerized tomographic angiography using echocardiographic feature-tracking software in patients with and without significant coronary disease.

Introduction: Cardiac computerized tomographic angiography (CCTA) is perceived as a non-invasive tool for assessment of coronary vessel anatomy. Feature tracking echocardiography has recently emerged as a tool for assessment of regional and global left ventricular function. We aimed to explore the applicability of echocardiographic strain on CCTA cine clips and assess whether global and regional strain parameters are associated with the extent of coronary stenosis.

Superior Keratoconus in Attention-Deficit Hyperactivity Disorder (ADHD): A Case Report and Literature Review.

Keratoconus is a progressive corneal ectasia that may lead to severe visual impairment. Superior keratoconus (SK) is an uncommon form of the disease, and few cases have been reported thus far. We present an unusual SK case and a literature review of this rare diagnosis.

Auxin treatment reduces inflorescences number and delays bud development in the alternate bearing Citrus cultivar Murcott mandarin.

Specific cultivars of many commercial fruit tree undergo cycles of heavy fruit load (ON-crop) one year, followed by low fruit load (OFF-crop) the next (termed alternate bearing). Fruit load may affect flowering at various developmental stages, and its presence is suggested to generate a flowering-inhibitory signal. In a previous report, we showed that the presence of fruit induces polar auxin transport from the fruit into the stem, interfering with indole acetic acid (IAA) release from the bud, and thus elevating its levels in the bud meristem.

Evaluating the effectiveness of mandibular advancement devices in treating very severe obstructive sleep apnea: a retrospective cohort study.

Background: The repeated airway obstructions in the common disorder Obstructive Sleep Apnea (OSA) cause health risks. Continuous Positive Airway Pressure (CPAP), the standard treatment, faces adherence challenges. Mandibular Advancement Devices (MADs) have been used successfully for mild to moderate OSA, as a good alternative for these patients.

Sleeve gastrectomy reveals the plasticity of the human gastric epithelium.

Gastrin is secreted following a rise in gastric pH, leading to gastric acid secretion. Sleeve gastrectomy (SG), a bariatric surgery where 80% of the gastric corpus is excised, presents a challenge for gastric pH homeostasis. Using histology, and single-cell RNA sequencing of the gastric epithelium in 12 women, we observed that SG is associated with an increase in a sub-population of acid-secreting parietal cells that overexpress respiratory enzymes and an increase in histamine-secreting enterochromaffin-like cells (ECLs).