Hotspots for Disease-Causing Mutations in the Mitochondrial TIM23 Import Complex.

The human mitochondrial proteome comprises approximately 1500 proteins, with only 13 being encoded by mitochondrial DNA. The remainder are encoded by the nuclear genome, translated by cytosolic ribosomes, and subsequently imported into and sorted within mitochondria. The process of mitochondria-destined protein import is mediated by several intricate protein complexes distributed among the four mitochondrial compartments.

Delivery of genetic medicines for muscular dystrophies.

Muscular dystrophies are a group of heterogenic disorders characterized by progressive muscle weakness, the most common of them being Duchenne muscular dystrophy (DMD). Muscular dystrophies are caused by mutations in over 50 distinct genes, and many of them are caused by different genetic mechanisms. Currently, none of these diseases have a cure.

Challenges in intraoperative differentiation of craniopharyngioma and Rathke cleft cyst on endoscopic visualization.

Background: Craniopharyngiomas are epithelial tumors derived from the remnants of the Rathke pouch, while Rathke cleft cysts (RCC) are benign cystic lesions originating from the Rathke pouch itself [1]. Rathke cleft cysts comprise 10-15% of the hypophyseal tumors, while craniopharyngiomas are relatively rare, comprising only 2-5% of intracranial tumors [2]. Both located in the sellar and parasellar regions and share clinical symptoms including headache, visual disturbances, and endocrine dysfunction [3].

Should antinuclear antibodies (ANA) be used to screen for connective tissue disease in neurological patients?

Background: Patients with connective tissue diseases (CTD) can have a wide range of neurological manifestations. Neurological complaints may be the presenting symptom of CTD. Therefore, screening for CTD using anti-nuclear antibodies (ANA) is a common practice.

Bladder neck position differences on CT in patients with incidental asymptomatic urinary bladder gas: A comparative retrospective study.

Objective: To investigate the potential link between differences in bladder neck position and the occurrence of incidental asymptomatic urinary bladder gas on computed tomography (CT) scans in female patients.

Methods: CT scans reports from January 2012 to December 2023 were analyzed in this retrospective study to identify adults presenting with bladder gas. Exclusion was based on factors such as prior urological procedures, urinary tract infections (UTIs), and other potential contributors to bladder gas.

Enhancing social communication behaviors in children with autism: the impact of dog training intervention on verbal and non-verbal behaviors.

Introduction: This study investigated the impact of dog training intervention (DTI) on verbal, non-verbal, and maladaptive behaviors in autistic preschoolers. Previous research has demonstrated the benefits of animal-assisted interventions, but this study specifically focused on changes during the DTI.

Methods: We analyzed video recordings of 37 autistic children (mean age 4:7 years, SD = 1:1) from special education preschools, comparing their behaviors during the initial and final intervention sessions.

Comparative genomics analyses of Actinobacteriota identify Golgi phosphoprotein 3 (GPP34) as a widespread ancient protein family associated with sponge symbiosis.

Background: Sponges harbor microbial communities that play crucial roles in host health and ecology. However, the genetic adaptations that enable these symbiotic microorganisms to thrive within the sponge environment are still being elucidated. To understand these genetic adaptations, we conducted a comparative genomics analysis on 350 genomes of Actinobacteriota, a phylum commonly associated with sponges.

Effectiveness of AZD7442 (Tixagevimab/Cilgavimab) for Pre-Exposure Prophylaxis Against COVID-19 Hospitalization in Israel During the Omicron Sub-Variant Time Period.

Introduction: The effectiveness of AZD7442 (tixagevimab/cilgavimab) against COVID-19 hospitalizations was determined at 3 and 6 months among immunocompromised individuals in Israel during different variant circulations.

Methods: This was a retrospective cohort study using data from Clalit Health Services in Israel. Immunocompromised individuals eligible to receive AZD7442 300 mg between 15 February and 11 December 2022 were identified.

The effects of war-related experiences on mental health symptoms of individuals living in conflict zones: a longitudinal study.

On October 7, 2023, a large-scale attack in southern Israel and the subsequent war resulted in extensive loss of life and injuries, with many individuals experiencing traumatic losses, such as family members or close friends being killed or kidnapped. This study aims to longitudinally examine its effects on mental health, specifically, clinical symptoms of anxiety, depression, and posttraumatic stress disorder (PTSD). We anticipated greater symptom severity among individuals who experienced traumatic loss, were forcibly displaced, or suffered income loss, as well as among women and members of ethnic minorities.

Birth weight and head circumference for 22-29 weeks gestation neonates from an international cohort.

Objective: Size at birth is a key indicator of in utero growth. Our objective was to generate sex-specific percentiles for birth weight and head circumference in neonates born between 22 and 29 weeks gestation from pregnancies without hypertension or diabetes and assess differences between vaginal and caesarean births and between singletons and twins.

Methods: We used data from 12 countries participating in the International Network for Evaluating Outcomes in Neonates database from 2007 to 2021.

SUMO-mediated regulation of H3K4me3 reader SET-26 controls germline development in C. elegans.

Sumoylation is a posttranslational modification essential for multiple cellular functions in eukaryotes. ULP-2 is a conserved SUMO protease required for embryonic development in Caenorhabditis elegans. Here, we revealed that ULP-2 controls germline development by regulating the PHD-SET domain protein, SET-26.

Efficient evacuation - enhanced survival: Insights from Gaza conflict trauma care.

Background: Combat-related injuries have evolved in urban warfare because of close-contact engagements and high-energy blast injuries, with rapid medical evacuation improving survival rates. This study analyzes injury patterns and outcomes in the Gaza conflict, emphasizing the need to optimize trauma care protocols in modern combat environments, particularly because of the unique proximity of conflict zones to tertiary trauma centers.

Methods: A retrospective study was conducted at a single center involving 189 patients evacuated by helicopter to a Level I tertiary trauma center.

The effectiveness of a novel parental training program in reducing problematic internet use of adolescents.

Problematic internet use and unsafe internet use are the two main potential negative consequences of children's online activities. Parents play a vital role in mitigating these consequences and creating a safe digital environment. Parental Vigilant Care (PVC) is a systematic approach that integrates active and restrictive mediation practices, allowing parents to regulate their involvement according to the alarm signs they detect.

Retreatment of Failed Regenerative Endodontic Therapy: Outcome and Treatment Considerations.

Introduction Regenerative endodontic therapy (RET) has been suggested for treating immature necrotic teeth, and failures after RET may be observed during follow-up examinations, even two years after the initial treatment. The study aimed to examine the outcomes of RET and suggest a decision-making guide for the retreatment of failed cases. Methods Around 414 endodontically treated immature teeth from patients aged six and 17 were screened to identify eight patients who presented with a failed RET.

Retinoblastoma with and without Extraocular Tumor Extension: A Global Comparative Study of 3435 Patients.

Purpose: To study the treatment and outcomes of children with retinoblastoma (RB) with extraocular tumor extension (RB-EOE) and compare them with RB without extraocular tumor extension (RB-w/o-EOE).

Design: Multicenter intercontinental collaborative prospective study from 2017 to 2020. RB-EOE cases included those with overt orbital tumor extension in treatment-naive patients.

Rhythm Perception in Speakers of Arabic, German and Hebrew.

Rhythm perception in speech and non-speech acoustic stimuli has been shown to be affected by general acoustic biases as well as by phonological properties of the native language of the listener. The present paper extends the cross-linguistic approach in this field by testing the application of the iambic-trochaic law as an assumed general acoustic bias on rhythmic grouping of non-speech stimuli by speakers of three languages: Arabic, Hebrew and German. These languages were chosen due to relevant differences in their phonological properties on the lexical level alongside similarities on the phrasal level.

Patient-reported outcomes following ciltacabtagene autoleucel or standard of care in patients with lenalidomide-refractory multiple myeloma (CARTITUDE-4): results from a randomised, open-label, phase 3 trial.

Background: In CARTITUDE-4, ciltacabtagene autoleucel (cilta-cel) significantly improved progression-free survival (primary endpoint; previously reported) versus standard of care in patients with relapsed, lenalidomide-refractory multiple myeloma. We report here patient-reported outcomes.

Methods: In the ongoing, phase 3, open-label CARTITUDE-4 study, patients were recruited from 81 sites in the USA, Europe, Asia, and Australia, and were randomly assigned 1:1 to cilta-cel (target, 0·75 × 10 CAR-T cells/kg) or standard of care (daratumumab, pomalidomide, and dexamethasone; pomalidomide, bortezomib, and dexamethasone).

Vanzacaftor-tezacaftor-deutivacaftor versus elexacaftor-tezacaftor-ivacaftor in individuals with cystic fibrosis aged 12 years and older (SKYLINE Trials VX20-121-102 and VX20-121-103): results from two randomised, active-controlled, phase 3 trials.

Background: The goal of cystic fibrosis transmembrane conductance regulator (CFTR) modulators is to reach normal CFTR function in people with cystic fibrosis. Vanzacaftor-tezacaftor-deutivacaftor restored CFTR function in vitro and in phase 2 trials in participants aged 18 years and older resulting in improvements in CFTR function, as measured by sweat chloride concentrations and lung function as measured by spirometry. We aimed to evaluate the efficacy and safety of vanzacaftor-tezacaftor-deutivacaftor compared with standard of care elexacaftor-tezacaftor-ivacaftor in individuals with cystic fibrosis aged 12 years and older.

The Potential Of Autologous Patient-Derived Circulating Extracellular Vesicles To Improve Drug Delivery In Rheumatoid Arthritis.

Recognizing the need for innovative therapeutic approaches in the management of autoimmune diseases , our current investigation explores the potential of autologous extracellular vesicles (EVs), derived from blood of rheumatoid arthritis (RA) patients, to serve as therapeutic vectors to improve drug delivery. We found that circulating EVs derived from arthritic mice (Collagen-induced arthritis model) express the joint/synovia homing receptor, αVβ3 integrin. Importantly, both autologous labelled EVs, derived from blood of arthritic mice (Collagen antibody-induced arthritis model) and healthy mice-derived EVs, exhibit targeted migration toward inflamed synovia without infiltrating healthy joints, as demonstrated by an in-vivo imaging system.

Communications needs of family caregivers of geriatric unit residents at end-of-life.

Background And Objective: There is a dearth of literature regarding the communication needs of family caregivers of institutionalized older adults and the degree to which these needs are fulfilled. This study aimed to clarify those needs regarding communication with staff in geriatric facilities during older non-communicative residents' end-of-life.

Research Design And Methods: Personal interviews were conducted with 135 family caregivers from two geriatric medical centers and two nursing homes in Israel.

The impact of body mass index on surgical complications in minimally invasive hysterectomy for uterine fibroids.

Research Question: We aimed to assess the impact of Body Mass Index (BMI) on 30-day postoperative complications in patients undergoing minimally invasive hysterectomy (MIH) for fibroids.

Design: Using data from the American College of Surgeons National Surgical Quality Improvement Program (NSQIP) database (2012-2020), we analyzed major and minor 30-day postoperative complications, stratified by BMI, in patients with uterine fibroids who underwent MIH. Complications were stratified according to the Clavien-Dindo classification.