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Niemann-Pick disease (NPD) encompasses a minimum of three lysosomal storage diseases, all of which are inherited in an autosomal recessive manner. Acid sphingomyelinase (ASM) deficiency is the cause of NPD types A and B. ASM is the enzyme that hydrolyzes the sphingolipid sphingomyelin. An 18-month-old patient with progressive painless abdominal distension with organomegaly and neurological deficits presented to our hospital. Brain imaging and laboratory findings did not show anything, but there was a millstone growth delay. The diagnosis of NPD type A was confirmed by a genetic examination, which revealed a twofold change on chromosome 11p15.4 in the region encoding the sphingomyelin phosphodiesterase-1 (SMPD1) gene. The patient was followed up with no specific treatment, and signs of respiratory infections were later reported.
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Background The use of traditional medicine (TM) in children is widespread, particularly in developing countries. Parents often rely on TM to treat their children's illnesses or maintain their health. However, the safety and efficacy of TM are often unclear, and there is a need to assess parents' knowledge, attitudes, and practices toward its use. Methods This is a community-based cross-sectional study conducted in Bisha, Saudi Arabia, with a sample size of 555. The study used a modified questionnaire to collect data. The data were collected from March to June 2023. This study involved both descriptive and inferential statistics. Results The study included 555 participants, most of whom were female, Saudi nationals, and married and had a bachelor's degree. More than half of the participants reported using TM, and most believed that it had fewer side effects and could be taken with allopathic medicines. However, many participants did not believe that TM could prevent or cure all diseases or that it was always safe. The median knowledge score was 4.0, with higher scores associated with older age and higher educational level. Most participants had a positive attitude toward TM, with higher attitude scores associated with younger age, male gender, lower educational level, and healthcare-related occupation. The median practice score was 31.0, with higher scores associated with younger age, male gender, illiteracy, and healthcare-related occupation. Overall, the study highlights the importance of understanding the patterns of use, knowledge, attitudes, and practices of TM in the population, particularly among different demographic groups. Conclusions This study highlights the need for better regulation and supervision of TM outlets to ensure the safety and efficacy of the products. It also emphasizes the importance of consulting healthcare professionals before using TM on children. The findings suggest that healthcare providers should be knowledgeable about TM and provide guidance to parents on its appropriate use.
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BACKGROUND: A widespread and serious eye condition is a refractive error (RE). Globally, uncorrected refractive defects affect numerous individuals, with some who are blind. Numerous studies in Saudi Arabia have been conducted to assess reflective error. However, there is a lack of knowledge regarding RE among school-age children in Bisha province, southwest Saudi Arabia. This study aimed to determine the prevalence and types of RE among school-age children in Bisha, Saudi Arabia. METHODS: A cross-sectional study involved 360 schoolchildren from primary schools was carried out between December 2022 and November 2023 in Bisha. A validated questionnaire form was used to collect sociodemographic information and clinical data (history of the ocular problem, visual acuity test findings, and the refractor machine's result). RESULT: A total of 360 schoolchildren aged from seven to 14 years, with a mean of 10.1 years (standard deviation (SD)=2.05). The prevalence of hyperopia was 21% in the right eye and 23% in the left eye. In addition, the prevalence of myopia was 20% in the right eye and 22.5% in the left eye. A significant association between visual acuity and myopia (p=0.001). By contrast, there was no significant correlation between hyperopia and visual acuity (p=0.412). CONCLUSION: The current study summarized the prevalence of REs among school-age children in Bisha, Saudi Arabia. The study population included nearly half of those with at least some degree of RE. These results highlight the need for prompt and careful screening programs to detect and treat refractive disorders across this age range.