Saint George Hospital

Multiple sclerosis (MS), neuromyelitis optica spectrum disorder (NMOSD), and myelin oligodendrocyte glycoprotein-associated disease (MOGAD) are the major types of demyelinating disorders of the central nervous system (CNS). Demyelinating disorders impact women disproportionately and frequently present during reproductive years. These conditions can cause significant neurological disability and psychosocial challenges, especially for women. Because they often present during reproductive years, clinicians frequently manage contraception, pregnancy, and the postpartum period alongside disease control. Sex-specific evidence, therefore, becomes especially important for treatment decisions. Despite this, sex-specific differences in epidemiology, immunopathology, clinical features, and therapeutic response remain inconsistently addressed in both clinical practice and research. In this review, we synthesize current evidence on the factors underlying the female predominance observed in MS, NMOSD, and MOGAD, and discuss the clinical consequences of these findings. We investigate the influence of sex hormones, X-chromosome–mediated immune regulation, and immunological changes associated with pregnancy and the postpartum period, as well as disease-specific mechanisms. We also examine how these factors affect diagnosis, prognosis, therapeutic decision-making, pregnancy management, and quality of life. Finally, we highlight important gaps in knowledge and underscore the necessity for a sex-informed approach to the diagnosis, management, and research of autoimmune demyelinating diseases.

Peripheral nerve injuries pose significant challenges due to limited regenerative capacity and functional recovery, especially in large or complex defects. Traditional repair methods using non-vascularized autologous nerve grafts often result in suboptimal outcomes due to ischemia-induced central necrosis and delayed axonal regeneration. Vascularized nerve grafts (VNGs), which provide an intrinsic blood supply, have emerged as a promising alternative to enhance nerve repair by improving graft survival, supporting Schwann cell viability, and promoting early neovascularization. This review on vascularized nerve grafting examines its advantages, challenges, and emerging experimental approaches. VNGs demonstrate superior functional outcomes compared to non-vascularized grafts, with improved motor and sensory recovery, and higher axonal density, particularly in long-gap and delayed repairs. Although the use of vascularized nerve grafts is limited by technical complexity, increased operative time, and donor site morbidity. In this study we aim to provide a comprehensive overview of the rationale, outcomes, and challenges associated with vascularized nerve grafts, while highlighting emerging experimental strategies poised to overcome current limitations in peripheral nerve repair.

Background and ObjectivesDevelopmental and epileptic encephalopathies (DEEs) with early burst-suppression EEG (EIDEE-BS) are among the most severe neonatal epileptic syndromes, typically presenting in the first months of life with refractory seizures and profound neurodevelopmental impairment. Although variants in the KCNQ2, STXBP1, and SCN2A genes are recognized as major causes, the full genetic spectrum remains uncertain. We aimed to delineate the electroclinical characteristics, genetic etiologies, and long-term outcomes in a large MRI-negative EIDEE-BS cohort.MethodsWe retrospectively analyzed 110 patients with BS EEG enrolled from a database of 1,540 individuals with suspected genetic epilepsies (2008-2023). Clinical, EEG, and genetic data were systematically collected. Patients were stratified into 4 groups: KCNQ2, STXBP1, "other pathogenic variants," and "without a genetic diagnosis." EEG traces were reviewed independently, and outcomes were assessed through long-term follow-up.ResultsPathogenic or likely pathogenic variants were identified in 62.7% of patients and involved 23 genes, including 2 copy number variants. KCNQ2 (n = 24) and STXBP1 (n = 16) accounted for one-third of diagnoses, whereas SCN2A (n = 3) and KCNT1 (n = 2) were less frequent. In KCNQ2 cases, seizures and BS onset occurred earlier than in STXBP1 cases: mean 2 days vs 6 weeks for seizures and 3 days vs 2 months for BS, respectively. A typical BS pattern (bursts longer than suppressions) strongly correlated with KCNQ2 and STXBP1 variants. Novel associations were found with DPM1, GRIN2A, KCNT2, PIGO, PURA, WWOX, and candidate genes (KMT2E, SNAP25, and SYT1). Most variants were de novo heterozygous; however, recessive and X-linked inheritance patterns were also observed. Mortality was high (25%), primarily from status epilepticus and complications of severe disability. Most patients (72.5%) had persistent seizures at follow-up (a mean of 6.5 years), as well as profound intellectual disabilities, irrespective of genotype.DiscussionThis large series highlights the strong monogenic basis of EIDEE-BS. KCNQ2, STXBP1, and SCN2A were the most commonly affected genes. Early EEG features, particularly BS timing and morphology, can help anticipate the underlying genotype and guide precision therapy, including the early use of sodium channel blockers in selected cases. These findings support recent ILAE reclassification efforts and underscore the importance of comprehensive genomic testing for improved diagnosis and counseling.

BACKGROUND:Clinical named entity recognition tools commonly map free text to Unified Medical Language System (UMLS) Concept Unique Identifiers (CUIs). For many downstream tasks, however, the clinically meaningful unit is not a single CUI but a concept set comprising related synonyms, subtypes, and associated concepts. Constructing these sets is labour-intensive, inconsistently performed, and poorly supported by existing tools. METHODS:We present CUI-Curate, a graph-based retrieval-augmented-generation (GraphRAG) framework for automated UMLS concept set curation. A UMLS knowledge graph was constructed and embedded for semantic retrieval. Candidate CUIs were retrieved using graph-based expansion and then filtered and classified using large language models (GPT-5 and Qwen3-32B). The framework was evaluated on five lexically heterogeneous clinical concepts against manually curated concept sets and gold-standard concept sets. RESULTS:CUI-Curate produced substantially larger and more complete concept sets than the manual benchmarks. A single retrieval configuration across concepts achieved high recall of definitive concepts with manageable candidate sets. GPT-5 outperformed manual curation for all concepts and retained at least 95% of definitive gold-standard CUIs, while Qwen3-32B achieved comparable but slightly lower performance. Many missed concepts were not observed in 10,000 MIMIC-III notes. CUI-Curate infrastructure and end-to-end processing were inexpensive and stable across runs. CONCLUSIONS:CUI-Curate offers a scalable, reproducible, and cost-efficient approach for generating clinician-reviewable UMLS concept sets tailored to clinical natural language processing and phenotyping applications.

Background:Erectile dysfunction (ED) is a common complication of metabolic and vascular diseases, but data from Lebanon remain scarce. Given the high prevalence of diabetes, hypertension and cardiovascular disease (CVD) in the region, understanding their influence on ED severity is clinically important. Methods:A cross-sectional observational study was conducted at Saint George Hospital University Medical Center (SGHUMC), Lebanon. Data were retrospectively collected from 300 male patients aged ≥18 years at risk of metabolic or cardiovascular comorbidities. Erectile dysfunction severity was assessed using the erectile function (EF) domain of the International Index of Erectile Function (IIEF). Chi-square tests, Spearman correlations, Kruskal-Wallis tests and ordinal logistic regression were applied. Results:The mean age was 62.1 years and the mean body mass index (BMI) 28.3. The mean IIEF-EF score was 14.8 (SD = 6.03). Moderate and severe ED were present in 36.0% and 20.3% of participants, respectively. Ordinal logistic regression identified diabetes (OR = 2.78, 95% CI 1.76-4.40, p < 0.001), hypertension (OR = 1.96, 95% CI 1.28-2.99, p = 0.002) and CVD (OR = 2.10, 95% CI 1.35-3.26, p=0.001) as significant independent predictors of ED severity. Comorbidity burden was inversely correlated with IIEF-EF score (rs = -0.319, p < 0.001). Age showed only a borderline association and BMI was not independently significant. Conclusions:Diabetes, hypertension and CVD are significant independent contributors to ED severity in Lebanese men, underscoring the need for integrated comorbidity screening and a multidisciplinary management approach.