Abstract Background Oculopharyngeal muscular dystrophy (OPMD) is a late-onset autosomal dominant myopathy, caused by a (GCN)n/polyalanine repeat expansion in the PABPN1 gene. In Israel, OPMD is particularly prevalent among individuals of Jewish Bukharian descent due to a (GCN)13 repeat expansion. In this retrospective study, we collected genetic and clinical data of OPMD patients who visited the Israeli reference clinic from its opening in 2022 through September 2025 and were enrolled in the Israeli OPMD registry (IsrO-PMD). Results A total of 102 Jewish individuals with OPMD symptoms and a confirmed molecular diagnosis were identified (52 males, 51.0%). The heterozygous (GCN)13 repeat allele (10/13 genotype) was found in 95 patients (93.1%), of whom 89 (93.7%) were of Bukharian descent, five (5.6%) were of Bulgarian origin, and a single patient was from Georgia. In this 10/13 genotype group (n = 95), initial symptoms were dysphagia and ptosis, which occurred at a similar mean age of 53.0 ± 8.3 and 53.9 ± 7.2 years, respectively. Symptoms of limb muscle weakness occurred significantly later, at a mean age of 57.9 ± 10.2 years. Overall, the onset of symptoms occurred approximately 4 years earlier in females (48.9 ± 7.9, n = 48) than in males (52.6 ± 7.1, n = 47), and this difference was statistically significant (p = 0.02). However, the difference did not reach significance when calculated for each of the three symptoms separately. On evaluation, at a mean age of 61.6 ± 10.7 years, dysphagia was present in 92/95 (96.8%) of patients, ptosis in 85/95 (89.5%), and limb muscle weakness in 56/95 (58.9%) of cases, most notably of hip flexion and abduction. Different genotypes were detected in seven patients: Three of Bukharian descent were homozygous for (GCN)13 repeats, three of Karaite descent were homozygous for (GCN)11 repeats, and one of Tunisian origion was heterozygous for (GCN)15 repeats (10/15 genotype). Discussion While most OPMD patients in Israel are of Jewish Bukharian descent, patients from other origins were also identified. Dysphagia and ptosis are the common initial symptoms, and overall, the onset of symptoms was reportedly earlier in females. Proximal muscle weakness becomes common with disease progression. Further studies are required to delineate genotype-phenotype correlations.
Recurrent weight gain after sleeve gastrectomy (SG) is a common long-term challenge, often requiring additional intervention. Management options include conversion surgery—most commonly to Roux-en-Y gastric bypass (RYGB) or One-anastomosis gastric bypass (OAGB), or treatment with obesity management medications (OMMs). Comparative long-term data between these strategies remain limited. This study aimed to evaluate long-term outcomes of OMM therapy versus conversion surgery after SG for recurrent weight gain. A retrospective analysis of a prospectively maintained registry from a tertiary university hospital was conducted, including patients treated for recurrent weight gain after SG between 2014 and 2024. Patients underwent conversion surgery (OAGB or RYGB) or were treated with OMMs. A total of 195 patients were included: OAGB (n = 69), RYGB (n = 62), and OMM (n = 64). Mean follow-up was 6.4 years. BMI at last follow-up differed significantly between groups (OMM 33.3 ± 5.1 kg/m², OAGB 28.3 ± 4.6 kg/m², RYGB 29.8 ± 4.9 kg/m²; p = 0.0005). Total weight loss (TWL) was also significantly higher in surgical groups (OMM 7.9
Parkinson’s disease (PD) is a highly heterogeneous condition with symptoms spanning motor and non-motor domains. Clinical scales like the Movement Disorder Society’s Unified Parkinson’s Disease Rating Scale (MDS-UPDRS) are standard in clinical trials where disease progression is monitored. They rely on summing item values, assuming uniform item importance and score increments. Here, we propose a novel data-driven approach to optimize weights for such scales–so that total scores better reflect the underlying disease severity. In a retrospective observational analysis of longitudinal cohort data from the Parkinson’s Progression Markers Initiative (PPMI), our methods identified which items (and value increments) most strongly indicate PD progression, down-weighting or excluding less informative items. The learned weights substantially improve the monotonic relationship between total scores and clinical progression. We validated our weights using both held-out PPMI data and an independent dataset (BeaT-PD), demonstrating their robustness. Applying such weights in clinical trials may increase power and reduce the required sample size1.
A comprehensive performance evaluation of seven state-of-the-art large language models (LLMs) compared to human resident benchmarks on ophthalmology board exam questions. Furthermore, this study aims to define current model strengths and limitations while validating an assessment tool for clinicians to evaluate model-generated outputs. Seven LLMs were assessed: ChatGPT-5, ChatGPT-4, Gemini 2.5 Pro, Gemini 2.5 Flash, Claude Sonnet 4.5, Grok-4-Fast-Reasoning, and Perplexity Sonar Pro. A dataset of 1,037 Israeli ophthalmology board questions (2020–2025) was manually categorized by question type (logical vs. informative), image modality, and 12 subspecialties. Models were evaluated for accuracy compared with resident performance, response latency, question difficulty, and self-assessed confidence. Performance varied substantially across models. Gemini 2.5 Pro achieved the highest accuracy, followed by ChatGPT-5, both outperforming residents. Accuracy declined significantly with increasing question difficulty (Very Hard vs. Easy: aOR 0.28, 95
To characterize perioperative morbidity, microbiologic findings and decannulation outcomes in pediatric open airway reconstruction. All children undergoing open airway reconstruction between 2014 and 2024 were included. Demographic characteristics, stenosis grade, surgical technique, staging strategy, stent use, graft configuration, postoperative complications, microbiological findings, and decannulation outcomes were analyzed. Forty-four children (mean age, 4.1 ± 2.9 years) underwent open airway reconstruction, most with high-grade stenosis (60
