This study aims to assess the physical health of individuals belonging to the lesbian, gay, bisexual, transgender, and queer (LGBTQ) community, considering health system challenges like access to care and patient experiences and community-specific attributes like health literacy and self-acceptance. This cross-sectional study was conducted in January-June 2022 using non-probabilistic sampling. The survey collected sociodemographic characteristics, information on access to care and patient experiences, prevalence of chronic conditions, sexually transmitted infections (STIs), and health literacy levels. The inclusion criteria required participants to be of Lebanese nationality, at least 18 years old, and to identify as part of the LGBTQ community. Descriptive statistics summarized the data. Two sample t-tests and chi-square tests were used to examine associations between variables. A total of 496 participants took the survey, with a majority identifying as bisexual (38.5%) or gay (35.1%). Around 41.1% reported at least one chronic condition. Difficulty accessing healthcare was experienced by 37.7%, with 11.1% reporting a negative patient experience. Participants who reported experiencing discrimination were significantly more likely to delay seeking health services (p < 0.001), with transgender-identifying participants experiencing significantly more discrimination that non-transgender-identifying participants. Regarding sexual health, 15.7%, of those who tested, reported at least one STI. Their preferred testing sites were Non-Governmental Organizations (59.3%). Adequate health literacy level was significantly associated with STI testing (t = 3.34, p < 0.01) and chronic disease (t = 3.76, p < 0.01). Our findings underscore the importance of inclusive healthcare policies that address discriminatory experiences in healthcare settings and the need for targeted evidence-based interventions to improve health outcomes among LGBTQ individuals.

Background: Autism spectrum disorder (ASD) is a complex developmental disability that impairs the social communication and interaction of affected individuals and leads to restricted or repetitive behaviors or interests. ASD is genetically heterogeneous, with inheritable and de novo genetic variants in more than hundreds of genes contributing to the disease. However, these account for only around 20% of cases, while the molecular basis of the majority of cases remains unelucidated as of yet. Material and methods: Two unrelated Lebanese patients, a 7-year-old boy (patient A) and a 4-year-old boy (patient B), presenting with ASD were included in this study. Whole-exome sequencing (WES) was carried out for these patients to identify the molecular cause of their diseases. Results: WES analysis revealed hemizygous variants in PCDH19 (NM_001184880.1) as being the candidate causative variants: p.Arg787Leu was detected in patient A and p.Asp1024Asn in patient B. PCDH19, located on chromosome X, encodes a membrane glycoprotein belonging to the protocadherin family. Heterozygous PCDH19 variants have been linked to epilepsy in females with mental retardation (EFMR), while mosaic PCDH19 mutations in males are responsible for treatment-resistant epilepsy presenting similarly to EFMR, with some reported cases of comorbid intellectual disability and autism. Interestingly, a hemizygous PCDH19 variant affecting the same amino acid that is altered in patient A was previously reported in a male patient with ASD. Conclusion: Here, we report hemizygous PCDH19 variants in two males with autism without epilepsy. Reporting further PCDH19 variants in male patients with ASD is important to assess the possible involvement of this gene in autism.