Alström Syndrome: A Challenging Case Study of a Female Saudi Patient With Type 2 Diabetes Mellitus and Complete Vision Loss.

Alström syndrome is a genetic disease that impacts numerous systems in the human body. The symptoms can vary and appear gradually. Childhood obesity, heart disease (cardiomyopathy), abnormalities in vision, and hearing issues are the main symptoms of this disorder in children. Diabetes mellitus, hepatic issues, and renal dysfunction can all occur over time. Genetic alterations in the ALMS1 gene are the cause of Alström syndrome. It has an autosomal recessive inheritance pattern. We address the case of a Saudi woman in her 20s. She had been initially referred for type 2 diabetes, intellectual disability since early childhood, metabolic acidosis, and micrognathia; however, she also exhibited blindness, chronic kidney disease (CKD), and hearing loss, all of which are indicative of Alström syndrome. DNA testing showed that she has a homozygous pathogenic variant in the ALMS gene. Autosomal recessive Alström syndrome has been confirmed as a genetic diagnosis. No other clinically significant variations were found that are associated with the mentioned phenotype. By reporting this mutation, we hope to learn more about the genotypic range of the disease, particularly in the Saudi population. As each member of the family underwent genetic testing, we established a stringent follow-up schedule for our patient and her family.

Assessment of General and Sports Nutrition Knowledge, Dietary Habits, and Nutrient Intake of Physical Activity Practitioners and Athletes in Riyadh, Saudi Arabia.

Physical performance and overall health are crucial in the athletic population, and their improvement relies on specific dietary guidelines and practices. Athletes and physical activity practitioners who participate in physical activity for specific health reasons need nutritional knowledge to improve physical performance. This study aimed to understand nutrient intake and nutritional knowledge among physical activity practitioners and athletes in Riyadh, Saudi Arabia. This cross-sectional study sampled 263 individuals divided into two groups: athletes (n = 121) and practitioners (n = 142). Their nutritional knowledge and dietary intake were measured with validated questionnaires: the Arabic Abridged Nutrition for Sport Knowledge Questionnaire and the Saudi Food Frequency Questionnaire. The majority of the sample (77.2%) had poor nutritional knowledge. Highest scoring domains for the dietary intake were protein from meat, fish, chicken (65.6%), vegetarian protein (62.4%), grains (51.0%), and the lowest were vegetables (41.1%), dairy (36.3%), and fruits (27.9%). In conclusion, athletes and practitioners in Riyadh, Saudi Arabia, have poor nutritional knowledge and dietary intake and may benefit from nutritional education and training to improve their knowledge, dietary intake, and performance.