METHODS: This online cross-sectional study was conducted in Syria between 3 September and 23 November 2022, involving all 18+ individuals. The questionnaire was adapted from a previous study containing 74 questions from five sections: socio-demographic information, knowledge and practice regarding STIs, knowledge and practice regarding HIV/AIDS, attitude towards HIV/AIDS, and attitude regarding STIs and analyzed using descriptive and multivariate logistic regression.
RESULTS: The study involved 1073 participants mostly aged between 18-30, with 55.3% females. Over half had good awareness of STIs and HIV/AIDS, with 55% and 63% respectively. Specifically, the overall knowledge level of STI type, signs/symptoms, risks of transmission, preventive methods, and complications for untreated STIs were (45.7%), (52.9%), (58.1%), (66.1%), and (59.6%), respectively. Medical field respondents had higher knowledge of HIV (P-value < 0.05, OR = 2).
CONCLUSION: Our results show that Syrian people have a knowledge level of STIs and HIV was moderate. However, the attitude toward STIs was negative, as less than half of the participants had a good attitude. It is essential to solve these knowledge gaps, especially in low-income countries such as Syria.
METHODS: We identified 105 affected individuals, including 39 previously reported cases, and systematically analyzed detailed clinical and genetic data for all individuals. Additionally, we conducted knockdown experiments in neuronal cells to investigate the role of ACTL6B in ribosome biogenesis.
RESULTS: Biallelic variants in ACTL6B are associated with severe-to-profound global developmental delay/intellectual disability, infantile intractable seizures, absent speech, autistic features, dystonia, and increased lethality. De novo monoallelic variants result in moderate-to-severe global developmental delay/intellectual disability, absent speech, and autistic features, whereas seizures and dystonia were less frequently observed. Dysmorphic facial features and brain abnormalities, including hypoplastic corpus callosum, and parenchymal volume loss/atrophy, are common findings in both groups. We reveal that in the nucleolus, ACTL6B plays a crucial role in ribosome biogenesis, particularly in pre-rRNA processing.
CONCLUSION: This study provides a comprehensive characterization of the clinical spectrum of both autosomal recessive and dominant forms of ACTL6B-associated disorders. It offers a comparative analysis of their respective phenotypes provides a plausible molecular explanation and suggests their inclusion within the expanding category of "ribosomopathies."