The genetic landscape of Lynch syndrome in the Israeli population.

Deciphering the spectrum and founder disease-causing variants (DCVs) in specific populations can shape and facilitate the diagnostic process of Lynch Syndrome (LS). The aim of this report was to comprehensively update on the genetic landscape of LS in the ethnically diverse Israeli-Jewish population. The cohort included 1080 carriers from 588 families; some from underrepresented, understudied Israeli ethnic groups recruited from 8 genetic institutes and high-risk clinics throughout the country.

Fetal Presentation of MYRF-Related Cardiac Urogenital Syndrome: An Emerging and Challenging Prenatal Diagnosis.

Purpose: MYRF-related cardiac-urogenital syndrome (MYRF-CUGS) is a rare condition associated with heterozygous MYRF variants. The description of MYRF-CUGS phenotype is mostly based on postnatal cases and 36 affected individuals have been published so far. We aim now to delineate the prenatal phenotype of MYRF-CUGS by reporting clinical data from fetuses and neonates with a pathogenic MYRF variant.

Parental Representations and Emotional Availability: The Case of Children with Autism and Severe Behavior Problems.

Studies suggest that parents' emotional availability (EA) is associated with children's wellbeing, including in the case of children with autism. Our study extended prior research by examining the role of parents' representations in fostering parental EA and by focusing on fathers and on children with autism and severe behavior problems. We expected that parents' positive representations would be associated with higher EA and compared mothers' and fathers' representations and EA.

Opportunities in Primary and Enteric Hyperoxaluria at the Cross-Roads Between the Clinic and Laboratory.

Hyperoxaluria is a condition in which there is a pathologic abundance of oxalate in the urine through either hepatic overproduction (primary hyperoxaluria [PH]) or excessive enteric absorption of dietary oxalate (enteric hyperoxaluria [EH]). Severity can vary with the most severe forms causing kidney failure and extrarenal manifestations. To address the current challenges and innovations in hyperoxaluria, the 14th International Hyperoxaluria Workshop convened in Perugia, Italy, bringing together international experts for focused presentation and discussion.

Primary antibiotic prophylaxis in biliary atresia did not demonstrate decreased infection rate: Multi-centre retrospective study.

Aim: This retrospective study aimed to assess the efficacy of prophylactic antibiotics in preventing ascending cholangitis following Kasai portoenterostomy (KPE). Data from 72 patients treated across four tertiary centres in Israel from 2008 to 2018 were analysed.

Methods: Clinical and laboratory data were collected from biliary atresia (BA) diagnosis until liver transplantation (LT) or study completion.

Assessing a Training Program for Integrative Medicine Practitioners in the Treatment of Acute Stress Disorder.

Study Objective: The study examined a training program for integrative medicine (IM) providers, teaching clinical skills for treating acute stress disorder (ASD).

Methods: A 10-h online training program, designed by IM and mental health professionals, was attended by a group of 32 IM providers working in supportive and palliative oncology care. Pre- and post-course questionnaires assessed self-perceived levels of IM and mental health ASD-related skills (from 1, very low; to 7, very high).

Perinatal outcomes in pregnancies achieved after fertility treatments with and without diet-controlled GDM.

Objective: To evaluate the rates of adverse perinatal outcomes among women who conceived after fertility treatments with and without diet-controlled GDM.

Methods: In this retrospective population-based cohort study, all pregnancies of non-diabetic and diet-controlled GDM women who conceived after fertility treatments (in-vitro fertilization - IVF and ovulation induction - OI) and delivered between the years 1996-2016 in a tertiary medical center, were included. Pregnancies of women with pre-gestational diabetes mellitus, and those complicated with gestational diabetes mellitus A2, multiple pregnancies, congenital malformations and those lacking prenatal care, were excluded.

Childhood onset C3 glomerulopathy: recurrence after kidney transplantation-a case series.

Background: C3 Glomerulopathy (C3G) is a complement-mediated disease, with predominant C3 deposits, where pathogenic genetic variants in complement system components and circulating autoantibodies result in loss of control of the alternative pathway, have been described. A high incidence of disease recurrence including graft failure has been reported after kidney transplantation (KTx). Currently treatment modalities for preventing and treating post KTx C3G recurrence (plasma exchange, rituximab and eculizumab) in adults have yielded inconsistent results.

How to optimize and evaluate diversity in gynecologic cancer clinical trials: statements from the GCIG Barcelona Meeting.

Findings from clinical trials have led to advancement of care for patients with gynecologic malignancies. However, restrictive inclusion of patients into trials has been widely criticized for inadequate representation of the real-world population. Ideally, patients enrolled in clinical trials should represent a broader population to enhance external validity and facilitate translation of outcomes across all relevant groups.

Gestational diabetes mellitus - Can we do better with postpartum diabetes screening?

Objective: This study aimed to assess the accuracy of measuring fasting plasma glucose (FPG) within 24-48 h postpartum in women with gestational diabetes mellitus (GDM) as a predictor for abnormal 6-12-week postpartum oral glucose tolerance test (OGTT).

Study Design: A retrospective cohort study (2012-2021) included women with GDM and singleton pregnancies who had FPG levels recorded 24-28 h postpartum and underwent a 6-12-week OGTT. The study compared the predictive accuracy of these FPG readings with the OGTT results.

Evaluation of the Effectiveness and Safety of Mesenchymal Stem Cell Treatment in Fistulising Crohn's Disease: An International Real-Life Retrospective Multicentre Cohort Study.

Background: Perianal fistulas of Crohn's disease (CD) create a significant burden on patients' lives. However, the efficacy and safety of adipose-derived mesenchymal stem cell treatment are contradicting, and real-world evidence is lacking.

Aims: To examine the usability of darvadstrocel therapy in managing perianal CD.

The Epidemiology of PCR-Confirmed Cutaneous Leishmaniasis in Israel: A Nationwide Study.

Background: Leishmaniasis, mainly cutaneous leishmaniasis (CL), is endemic in Israel. In recent years, the diagnosis of leishmaniasis has transitioned to a molecular diagnosis.

Objective: To summarize all cases of leishmaniasis and the identified species seen in Israel based on molecular diagnosis.

Combined Impact of Residual Mitral Regurgitation and Gradient After Mitral Valve Transcatheter Edge-to-Edge Repair.

Background: Reducing mitral regurgitation (MR) during mitral transcatheter edge-to-edge repair (M-TEER) may come at the cost of increased mitral valve gradient (MVG). The combined impact of residual MR and MVG on clinical outcomes after M-TEER is unknown.

Objectives: This study sought to evaluate the impact of postprocedure MR and MVG on clinical outcomes after M-TEER.

Evaluation of the robustness of randomized controlled trials for the treatment modalities of esophageal cancer using the fragility index - a systematic review.

Background: Esophageal cancer remains a significant global health challenge. Several treatment modalities were explored in randomized controlled trials (RCTs) in recent decades. This study evaluates the robustness of RCTs focusing on esophageal cancer treatment using the fragility index (FI) and reverse fragility index (RFI).

Main Operating Room Versus Field Sterility in Hand Surgery: A Review of the Evidence.

Many of the guidelines that are generally accepted as main operating room best practices are not evidence based. They are based on the concept that if some sterility is good, more must be better. They are not derived from evidence-based sterility.

How long is long enough? An international survey exploring practice variations on the recommended duration of maintenance therapy with PARP inhibitors in patients with platinum sensitive recurrent ovarian cancer and long-term outcomes.

Objective: There are no data, and thus no consensus, on the optimal duration of poly(ADP-ribose) polymerase (PARP) inhibitor maintenance therapy for exceptional responders (here defined as progression-free for 5 years or longer) with platinum sensitive recurrent ovarian cancer. The current licence is to continue PARP inhibitors until progression or toxicity; however, international practice varies considerably. The risks of late progression and late-onset myeloid malignancies, defined as occurring beyond 5 years of PARP inhibition, are unknown.

Post-Discharge Outcomes of Elderly Patients Hospitalized for Inflammatory Bowel Disease Flare Complicated by Clostridioides difficile Infection.

Objectives: Elderly hospitalized patients with inflammatory bowel disease (IBD) flare and concurrent Clostridioides difficile infection (CDI) are considered at high risk of IBD-related complications. We aimed to evaluate the short, intermediate, and long-term post-discharge complications among these patients.

Methods: A retrospective multicenter cohort study assessing outcomes of elderly individuals (≥60 years) hospitalized for an IBD flare who were tested for CDI (either positive or negative) and discharged.

Homoeopathy vs. conventional primary care in children during the first 24 months of life-a pragmatic randomised controlled trial.

Unlabelled: To compare the difference between primary homoeopathic and conventional paediatric care in treating acute illnesses in children in their first 24 months of life. One hundred eight Indian singleton newborns delivered at 37 to 42 weeks gestation were randomised at birth (1:1) to receive either homoeopathic or conventional primary care for any acute illness over the study period. In the homoeopathic group, conventional medical treatment was added when medically indicated.