Hereditary Hyperekplexia in Saudi Arabia.

BACKGROUND: Hyperekplexia is a rare disorder characterized by exaggerated startle responses to unexpected sensory stimuli, recurrent apneas, and stiffness. Only few studies have been published on this disorder in populations with high rates of consanguinity. METHODS: We retrospectively reviewed Saudi patients with genetically confirmed hereditary hyperekplexia using a standard questionnaire that was sent to nine major referral hospitals in Saudi Arabia. RESULTS: A total of 22 Saudi patients (11 males, 11 females) from 20 unrelated families who had hereditary hyperekplexia were included. Based on molecular studies, they were classified into different subtypes: SLC6A5 variant (12 patients, 54.5%), GLRB variant (seven patients, 31.8%), and GLRA1 variant (three patients, 13.7%). All patients were homozygous for the respective causal variant. The combined carrier frequency of hereditary hyperekplexia for the encountered founder mutations in the Saudi population is 10.9 per 10,000, which translates to a minimum disease burden of 13 patients per 1,000,000. CONCLUSION: Our study provides comprehensive epidemiologic information, prevalence figures, and clinical characteristics of a large cohort of patients with hereditary hyperekplexia.

HIV prevalence and risk behaviors of male injection drug users in Cairo, Egypt.

OBJECTIVE: To measure HIV prevalence and related risk behaviors among male injection drug users (IDUs) in Cairo, Egypt in the context of the first survey wave of an integrated biological and behavioral surveillance system. DESIGN AND METHODS: Given the hidden nature of injection drug use, we used the peer-referral methodology of respondent-driven sampling in a cross-sectional study to recruit a sample of male IDUs in Cairo between May and August 2006. Behavioral data were collected through face-to-face interviews and serum was obtained for HIV antibody testing. Population estimates were produced using respondent-driven sampling Analysis Tool. RESULTS: The study enrolled 413 male IDUs. The population estimated HIV prevalence was 0.6% (95% confidence interval 0.1-1.8). More than half (53.0%) reported injecting drugs with used needles or syringes and nearly one-third (32.4%) shared their used needle or syringe with one or more persons in the preceding month. Overall, 70.5% had sex in the preceding year, of whom 9.4% reported sex with male partners and 13.2% reported sex with commercial sex workers in the preceding 12 months. Ever use of a condom during sex was low with all partner types and only 5.8% ever had an HIV test. CONCLUSION: This first survey wave of integrated biological and behavioral surveillance system in Egypt to track the HIV epidemic among male IDUs found relatively low prevalence of infection compared to global estimates, though the figure is many times higher than the general population. In addition, risky injection practices and unprotected sex were high with sexual networks including men who have sex with men, female sex workers, wives, and other regular and casual partners. The respondent-driven sampling method was effective in recruiting male IDUs and the results are being used to inform surveillance and prevention programs.