Background: Autism spectrum disorder (ASD) is a complex neurodevelopmental condition with a rising prevalence, driven by multifactorial genetic and environmental factors. Among the genetic contributors identified, SCN2A, a critical gene encoding the Nav1.2 sodium channel, has been implicated in ASD and other related neurological conditions. This systematic review aims to explore the relationship between SCN2A mutations and ASD phenotypes. Methods: This review systematically analyzed data from studies reporting SCN2A mutations in individuals diagnosed with ASD. The primary focus was on the characterization of mutation types, associated clinical features, and phenotypic variability. Results: The mutations identified were predominantly de novo missense mutations and were associated with a spectrum of neurological and developmental challenges, including seizures, intellectual disability, movement disorders, and repetitive behaviors. A notable finding was the significant phenotypic variability observed across individuals. Gender differences emerged, suggesting a potentially greater impact on females compared to trends typically seen in ASD genetic studies. Specific mutations, such as c.2919+4delT, and mosaicism were identified as novel contributors to the observed heterogeneity. Conclusions: The review highlights the clinical significance of SCN2A mutations in ASD and highlights their relevance in genetic counseling and the development of targeted therapies. Understanding the diverse genotype–phenotype correlations associated with SCN2A can drive progress in personalized medicine, paving the way for precision therapies tailored to individuals with SCN2A-related ASD.

Cochlear implantation is a surgical intervention to provide auditory rehabilitation to individuals with severe to profound hearing loss. Intraoperative electrocochleography (ECochG) has emerged as a promising tool for monitoring cochlear health during cochlear implant (CI) surgery. This systematic review aims to synthesize current evidence regarding the effectiveness of intraoperative ECochG in predicting postoperative residual hearing levels in CI recipients. A comprehensive literature search was conducted across major databases including PubMed, Embase, Web of Science, and SCOPUS. The protocol for this systematic review was registered in the PROSPERO database (registration number: CRD42023476617). The key outcomes assessed were the correlation between intraoperative ECochG patterns and postoperative residual hearing levels, as well as the influence of surgical techniques and electrode design on ECochG responses and hearing preservation. The Risk of Bias analysis was conducted using the Joanna Briggs Institute Critical Appraisal Tool. The review included a total of eighteen studies that met the inclusion and exclusion criteria. A significant correlation was reported between specific intraoperative ECochG response patterns and the preservation of residual hearing post-surgery. Studies highlighted that robust ECochG responses typically indicated a higher likelihood of postoperative hearing preservation. The review also identified factors influencing ECochG responses, including electrode design and insertion techniques. Several studies reported improved preservation of residual hearing with modifications in surgical approaches guided by ECochG feedback. Intraoperative ECochG monitoring emerges as a crucial tool in predicting and potentially enhancing postoperative residual hearing outcomes in implanted individuals. The review underscores the value of ECochG in guiding surgical technique adjustments, thereby maximizing hearing preservation. However, the heterogeneity in study designs and ECochG protocols suggests a need for standardization in this field. Future research should focus on large-scale, multicenter trials to establish definitive guidelines for integrating ECochG in CI surgeries, with an emphasis on long-term hearing outcomes.

Objective: Gastroesophageal reflux disease (GERD) is highly prevalent, yet its association with upper aerodigestive tract (UADT) cancers beyond esophageal adenocarcinoma remains incompletely defined. This systematic review and meta‐analysis aimed to quantify the risk of specific UADT cancers in individuals with GERD. Data Sources: A comprehensive search of PubMed, Embase, Scopus, the Cochrane Library, and CINAHL was conducted for studies published from January 2000 to October 2024. Review Methods: Observational studies (cohort or case–control) evaluating GERD as a risk factor for UADT cancers in adults were included, following PRISMA guidelines (PROSPERO: CRD42024602545). Esophageal adenocarcinoma was excluded due to its well‐established association with GERD. Study quality was assessed using the Newcastle–Ottawa scale. Pooled relative risks (RR) and 95% confidence intervals (CI) were calculated using random effects models. Results: Seventeen studies (12 case–control, 5 cohort), encompassing 1,768,394 participants, met inclusion criteria. GERD was significantly associated with laryngeal cancer (RR = 1.65, 95% CI = 1.19–2.31). No significant associations were found for pharyngeal, oropharyngeal, hypopharyngeal, or esophageal squamous cell carcinoma. Subgroup analysis showed stronger associations in U.S.‐based studies (RR = 1.61) and in studies using ICD‐coded GERD (RR = 1.93). Conclusion: GERD is associated with an increased risk of laryngeal cancer. Findings support further investigation into reflux‐related carcinogenesis in the UADT, particularly in high‐risk populations.

Objective: The aim was to evaluate cochlear implantation (CI) outcomes in children with Down syndrome (DS) with severe-to-profound sensorineural hearing loss (SNHL), addressing a literature gap and discussing challenges including anatomical abnormalities, cognitive deficits, and Eustachian tube dysfunction. Data Sources: Systematic searches were conducted in PubMed, Web of Science, Scopus, and Embase from inception through to June 2025. Review Methods: A systematic review adhering to PRISMA guidelines was performed. Included studies reported CI outcomes in DS patients receiving otolaryngologic care for SNHL. Extracted data included findings on ear anatomy, auditory performance, speech/language development, intelligibility, and duration of CI use. Results: A total of 149 abstracts were screened, yielding six studies with 26 patients that met the inclusion criteria. The review included pediatric DS patients with documented ages at implantation spanning from 11 months to 17.9 years. CI provided significant benefits for DS patients, including improved audiometric results, enhanced environmental awareness, and psychosocial gains. Optimal outcomes were associated with early implantation, thorough preoperative imaging (CT/MRI), and management of middle ear disease. Variability in outcomes often reflected cognitive limitations and anatomical challenges such as cochlear nerve hypoplasia and Eustachian tube dysfunction. Conclusions: CI can significantly improve quality of life and communication in children with DS when tailored to their unique needs. Preoperative imaging is essential to assess candidacy, and middle ear disease should be addressed prior to surgery. Clinicians should counsel families with individualized goals that emphasize functional hearing gains over normative speech benchmarks. Broader adoption of CI in this population may be supported by standardized, population-sensitive outcome measures and future prospective studies.

Introduction: The LGBTQIA+ community faces substantial barriers to healthcare access, contributing to disproportionate rates of HIV and sexually transmitted infections, limited uptake of pre-exposure prophylaxis (PrEP), and inadequate access to gender-affirming hormone therapy (GAHT). A root cause is the lack of LGBTQIA+-focused training in US medical curricula, with a median of only five hours dedicated across four years of medical school. From January through December 2024, a student-run gender-affirming care and infectious disease clinic was piloted at an academic medical institution in South Florida. The objective of this implementation study is to report on clinic implementation, patient outcomes, and stakeholder feedback. Methods: The clinic provided GAHT, HIV and sexually transmitted infections prevention and testing, including PrEP, nPEP, and DoxyPEP to an LGBTQIA+ patient population at no cost. Five medical student officers led operations alongside 38 student volunteers, 6 attending physicians, and 4 residents. Qualitative interviews informed by the Consolidated Framework for Implementation Research (CFIR) were conducted with four key stakeholders following the pilot. Results: The clinic served 42 patients. Among 36 patients receiving GAHT, 63.9% also received PrEP. Patient retention was high: 85.4% returned for follow-up within 90 days, 97.6% picked up medications after the first visit, and 82.9% continued regular medication pickup. Qualitative stakeholder perspectives centered on responsiveness to the political climate and local need, effective clinical care with high patient satisfaction, a supportive learner culture, and potential for program expansion. Conclusions: This pilot demonstrates the feasibility and impact of student-led, gender-affirming sexual health clinics and provides a replicable framework for other institutions. Grant funding is being pursued to re-establish and expand services with an integrated psychiatric component tailored to LGBTQIA+ populations.