Medicine
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Case Reports
De novo KCNB1 missense variant causing developmental and epileptic encephalopathy: Two case reports.
Developmental and epileptic encephalopathy (DEE) defines a group of severe and heterogeneous neurodevelopmental disorders. The voltage-gated potassium channel subfamily 2 voltage-gated potassium channel α subunit encoded by the KCNB1 gene is essential for neuronal excitability. Previous studies have shown that KCNB1 variants can cause DEE. Herein, we report the cases of 2 children with DEE caused by pathogenic variants in the KCNB1 gene. Trio whole-exome sequencing identified novel KCNB1 genotypes, c. 1160C > A and c.1012C > T, which had not been reported previously, in 2 unrelated patients. ⋯ This study confirmed that genetic testing provides a basis for the diagnosis of children with abnormal electroencephalogram and brain magnetic resonance imaging findings and developmental delay, and provides data supporting a future phenotype-genotype correlation study.
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This study investigates the genetic cause of primary infertility and short stature in a woman, focusing on maternal X chromosome pericentric inversion and its impact on offspring genetic outcomes, including deletions at Xp22.33 and Xp22.33p11.3, and duplications spanning Xq27.3 to the distal end of the X chromosome's long arm. ⋯ Maternal X chromosome pericentric inversion significantly affects offspring genetic outcomes. Assisted reproductive technologies, including in vitro fertilization with preimplantation genetic testing, are recommended to reduce recurrence risks in future pregnancies. Prenatal genetic testing is advised for natural conception to ensure fetal genetic health.
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Disease-related fatalities in Saudi Arabia (SA) are on the rise, with 28% of all deaths attributed to cardiovascular diseases, followed by cancer, diabetes, and chronic respiratory disorders. In response to this issue, pharmacy dispensing practices have been significantly altered. One such innovative approach is the drive-through pharmacy service. ⋯ Furthermore, individuals with children had a lower perception (8.94) compared with those without children, indicating a statistically significant difference in mean perceptions of drive-through pharmacy based on gender (P = .002), age (P = .006), employment (P = .081), and presence of children (P = .001). Most respondents were aware of the drive-through pharmacy services and agreed that they would benefit the nation's entire population. The majority of individuals also supported the expansion of drive-through pharmacy services.
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This study investigated the impact of nursing interventions based on the Integrated Theory of Health Behavior Change on hemodialysis patients. A retrospective analysis of 713 hemodialysis patients' electronic medical records from June 2020 to November 2023 was conducted. Patients were divided into an experimental group, receiving nursing interventions based on the theory, and a control group, receiving regular nursing care. ⋯ The dialysis indices spKt/V and urea reduction ratio increased with increasing BMI, and there was a correlation between the 2, with values of 0.61 and 0.51, respectively, which were statistically significant (P < .05). The extremely satisfied rates were 46% in the experimental group and 36% in the control group, with dissatisfaction rates of 2% and 3% in the 2 groups, respectively, showing a significant statistical difference (P < .01). Nursing interventions based on the Integrated Theory of Health Behavior Change improved dialysis outcomes and patient satisfaction, providing insights for chronic disease management.
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Observational Study
Chorionic-based intrahepatic cholestasis in pregnancy on perinatal outcome in twin pregnancies.
This study investigates the impact of twin intrahepatic cholestasis in pregnancy (ICP) in different chorionicity scenarios on pregnancy outcome and risk factors. This retrospective study was designed to investigate the association between ICP and pregnancy outcomes and associated risk factors. Logistic regression analysis was used to verify the correlation between ICP and pregnancy outcome and the associated risk factors with the risk of ICP. ⋯ Our study illustrates that twin pregnancies with maternal comorbid ICP have lower birth weight, degree of weight gain during pregnancy and prepregnancy HBV carriage is strongly associated with the development of ICP. ICP contributes to adverse perinatal outcomes such as stillbirth, preterm labor, and differentiates between different chorionic twin pregnancy outcomes. The risk of ICP is differently affected by the degree of weight gain during pregnancy, gestational week of delivery, assisted reproductive technology, and prepregnancy HBV carriage.