Successive Drug Therapy for a Very Rare Autosomal Diseases

It is very rare to find reports concerning a drug therapy successively treating chromosomal abnormalities. In this paper, we are reporting a successive use of nitisinone in treating a fatal and very rare autosomal disease called hereditary tyrosinemia type-1 [HT-1]. HT-1 is affecting about one person in 100,000 to 120,000 births worldwide. It is due to a genetic defect in the enzyme fumarylacetoacetate hydroxylase (FAH), which is responsible for the final degradation of tyrosine. Accumulation of tyrosine metabolites is responsible for tissue damage such as liver, kidney, and neural tissues, finally causing the death of the newborn babies in their early months of life if not treated. Fumarylacetoacetate hydrolase gen has mapped on chromosome 15q23-15q25. Since 1992, the initiation of treating HT-1 with nitisinone (NTBC) has become the medical therapy of choice in combination with diet. NTBC therapy has shown a direct correlation between age of initiation and subsequent clinical course. We are reporting three brothers treated safely and successively with NTBC in combination with diet. All of them are in very good conditions. The elder brother is on NTBC since 27 years ago

Novel corona virus disease (COVID-19) awareness among the dental interns, dental auxiliaries and dental specialists in Saudi Arabia: A nationwide study

BACKGROUND Dental health care workers (DHCW's) are invariably at a higher risk of contracting COVID-19. The objectives were; to investigate the current knowledge on COVID-19 among the DHCW's; and to conduct quasi-experiment among the DHCW's who were unaware of the disseminated COVID-19 information. METHODS A nationwide cross-sectional study targeting dental interns, auxiliaries, and specialists with a two-staged cluster sampling technique was performed. A 17-item questionnaire was subjected to reliability and validity tests before being administered. The participants for quasi-experiment were separated from the original sample after their initial response. Chi-square test assessed responses to knowledge statements between the participants. Difference in mean knowledge scores between the categories of DHCW's and sources of COVID-19 information was assessed using ANOVA. Data from the quasi experiment (pre vs post knowledge intervention) was subjected to paired t-test. Percentage of DHCWs providing correct or wrong responses to each knowledge statement at baseline and after 7 days were compared using McNemar test. RESULTS The overall sample consisted of 706 (N) participants, and the DHCW's with no prior knowledge on COVID-19 (N = 206) were part of the quasi experiment. Findings from cross-sectional study revealed that knowledge was significantly (p < 0.05) related to the qualification level (interns vs auxiliaries vs specialists). However, the difference in the source of information (WHO/CDC vs Journal articles vs MoH) did not demonstrate any effect. Number of participants with correct responses to knowledge questions had significantly (p < 0.05) increased after intervention. Also, the overall mean knowledge score (10.74 ± 2.32 vs 12.47 ± 1.68; p < 0.001) had increased significantly after the intervention. CONCLUSION In conclusion, the basic knowledge on COVID-19 among the DHCW's in Saudi Arabia is acceptable. Timely dissemination of information by the Ministry of Health, Saudi Arabia had a positive impact on the COVID-19 knowledge score of the DHCW's

Validation of the Arabic Version of Diabetes Eating Problem Survey–Revised (DEPS-R) among Adolescents with Type 1 Diabetes

Disordered eating behaviors (DEBs) in type 1 diabetes (T1D) have been studied globally in different age groups. However, there is no validated diabetes-specific questionnaire in the Arabic language for the screening of DEBs. This study aimed to translate the Diabetes Eating Problem Survey–Revised scale (DEPS-R) into the Arabic language and study its psychometric properties in adolescents with T1D. We adopted the forward–backward procedure to translate the DEPS-R questionnaire into Arabic. The validation study enrolled 258 Saudi adolescents with T1D aged 12–18 years who completed the Arabic DEPS-R questionnaire and the EAT-26. The Arabic DEPS-R showed good construct validity and reliability (Cronbach’s alpha = 0.86). The factor analysis revealed a three-factor structure of DEPS-R which explains 54.4 % of the variance. In total, 30.6% of the participants are at high risk for DEBs (DEPS-R score ≥ 20). The psychometric properties of the Arabic DEPS-R are satisfactory, consistent with the original scale and translations in other languages. These results support the validity of the Arabic DEPS-R for assessment of DEBs in the T1D Arabic population

Disordered Eating Behaviors and Insulin Restriction in Saudi Adolescents and Young Adults with Type 1 Diabetes

Background and Objectives: The prevalence of disordered eating behaviors (DEBs) in type 1 diabetes (T1D) has been studied globally; however, data from Saudi Arabia and Arab-speaking countries are scarce. This study aimed to measure the prevalence of DEBs and associated clinical characteristics in adolescents and young adults with T1D, and the impact of DEBs on glycemic parameters. Materials and Methods: A total of 265 adolescents and young adults with T1D (aged 12–25 years) were recruited randomly from the registry at the Jazan Endocrinology and Diabetes Center, Saudi Arabia. Participants completed the Diabetes Eating Problem Survey–Revised (DEPS-R) questionnaire. Other measures included hemoglobin A1c (HbA1c) in addition to sociodemographic, anthropometric, and clinical data. Results: The prevalence of DEBs among T1D was 27.2%. Females (32.5%) had a higher proportion of DEBs than males (18.6%) (p = 0.01). About 27% of the participants reported insulin restriction. A history of hospital admission in the previous 6 months due to DKA and frequent hypoglycemia was more frequently reported in T1D participants with DEBs compared to those without (p = 0.03). Participants with DEBs had higher HbA1c and higher BMI compared to those without DEBs. Conclusions: Adolescents and young adults with T1D with disordered eating and insulin restriction have higher glycated hemoglobin, and are at higher risk of DKA. Routine screening for DEBs should be an essential element in diabetes care, especially among highly vulnerable groups