RESUMEN
Epilepsy, one of the most prevalent chronic neurological diseases, can cause severe morbidity as well as mortality. A mutation of the KCNMA1 gene results in a rare genetic disease that causes epilepsy as its core presentation. Both neurological and non-neurological manifestations have been reported in patients with KCNMA1 gene mutation. We are reporting a KCNMA1 gene variant referred to as c.2369C>T (p. Pro790Leu), which encodes the subunit of alpha of calcium-sensitive potassium channels, which causes epilepsy but not dyskinesia in a young Saudi female who is the daughter of consanguineous parents. Our case shows that calcium-sensitive potassium channels can cause an isolated generalized epilepsy as reported previously in a single case. Moreover, this case aids in delineating the clinical and structural picture and the treatment of the KCNMA1 gene mutation in patients.
Asunto(s)
Epilepsia , Estado Epiléptico , Estimulación del Nervio Vago , Calcio , Epilepsia/genética , Femenino , Humanos , Subunidades alfa de los Canales de Potasio de Gran Conductancia Activados por Calcio/genética , Estado Epiléptico/genética , Estado Epiléptico/terapiaRESUMEN
OBJECTIVES: This study aimed to assess the knowledge, attitude and care-seeking practices of parents towards childhood ear infections in Riyadh, Saudi Arabia. METHODS: This quantitative cross-sectional study was conducted in Riyadh, Saudi Arabia, between April and June 2018. An online survey was sent to a random selection of parents who were ≥18 years old with children of ≤10 years old. Associations between parental knowledge, attitude, care-seeking practices, socioeconomic status, level of education and age were assessed using the chi square test and logistic regression analysis. RESULTS: A total of 782 subjects participated in this study (response rate: 78.2%). Most respondents were knowledgeable (76.2%), had a positive attitude (78.9%) and had positive care-seeking practices (89.5%). There was a statistically significant difference on both bivariate and multivariate analyses (P <0.05) between parental care seeking practice and knowledge. Parents who sought modern approaches to treatment were found to be almost nine times more likely to have a good attitude towards ear infections than those who did not seek treatment (odds ratio = 8.907, 95% confidence interval = 2.655-34.928; P <0.001). A statistically significant relationship was found between good care-seeking practice and age, as well as socioeconomic status (P <0.05 each). CONCLUSION: This study showed that knowledge, attitude and practice regarding paediatric ear infections were positive in the majority of parents in Riyadh, Saudi Arabia. Future studies should assess other factors that enhance the knowledge, attitude and practices regarding ear infections.
Asunto(s)
Actitud Frente a la Salud , Conocimientos, Actitudes y Práctica en Salud , Otitis , Padres/psicología , Adulto , Niño , Preescolar , Estudios Transversales , Femenino , Humanos , Lactante , Masculino , Persona de Mediana Edad , Pediatría/métodos , Pediatría/normas , Arabia Saudita , Encuestas y CuestionariosRESUMEN
OBJECTIVES: To determine the association between emergency department (ED) visits, glycemic control and the quality of preventive diabetes care among diabetic patients in a Saudi community. Methods: This study was an observational, cross-sectional study that collected data through interview-based surveys between February and April 2017. Data were collected from 530 diabetic patients in the diabetes clinics at King Saud Medical City, the tertiary center of Riyadh, Kingdom of Saudi Arabia. Results: This study found statistically significant relationships (p less than 0.05) between ED visits and patient age, the glycated hemoglobin (HbA1c) and education level. Emergency department visits increased by 43% for each unit of increase in HbA1c (odds ratio [OR]=1.43, 95% confidence interval (CI)=1.26-1.62). Graduating from high school decreased the odds of visiting the ED by 43% (OR=0.57, 95% CI=0.34-0.94). Most of the participants were not followed for possible microvascular complications; the majority did not visit nephrology (96.2%), ophthalmology (78.3%) and neurology (97.9%) clinics within the 12 months prior to the interviews. Conclusion: Emergency department visits can indicate poor glycemic control in diabetic patients. Additionally, the current practices of preventive diabetes care in Saudi Arabia are not sufficient, according to the diabetic standards of care recommended by the American Diabetes Association.