KCNT1-related epilepsy: An international multicenter cohort of 27 pediatric cases.

OBJECTIVE: Through international collaboration, we evaluated the phenotypic aspects of a multiethnic cohort of KCNT1-related epilepsy and explored genotype-phenotype correlations associated with frequently encountered variants. METHODS: A cross-sectional analysis of children harboring pathogenic or likely pathogenic KCNT1 variants was completed. Children with one of the two more common recurrent KCNT1 variants were compared with the rest of the cohort for the presence of particular characteristics. RESULTS: Twenty-seven children (15 males, mean age = 40.8 months) were included. Seizure onset ranged from 1 day to 6 months, and half (48.1%) exhibited developmental plateauing upon onset. Two-thirds had epilepsy of infancy with migrating focal seizures (EIMFS), and focal tonic seizures were common (48.1%). The most frequent recurrent KCNT1 variants were c.2800G>A; p.Ala934Thr (n = 5) and c.862G>A; p.Gly288Ser (n = 4). De novo variants were found in 96% of tested parents (23/24). Sixty percent had abnormal magnetic resonance imaging (MRI) findings. Delayed myelination, thin corpus callosum, and brain atrophy were the most common. One child had gray-white matter interface indistinctness, suggesting a malformation of cortical development. Several antiepileptic drugs (mean = 7.4/patient) were tried, with no consistent response to any one agent. Eleven tried quinidine; 45% had marked (>50% seizure reduction) or some improvement (25%-50% seizure reduction). Seven used cannabidiol; 71% experienced marked or some improvement. Fourteen tried diet therapies; 57% had marked or some improvement. When comparing the recurrent variants to the rest of the cohort with respect to developmental trajectory, presence of EIMFS, >500 seizures/mo, abnormal MRI, and treatment response, there were no statistically significant differences. Four patients died (15%), none of sudden unexpected death in epilepsy. SIGNIFICANCE: Our cohort reinforces common aspects of this highly pleiotropic entity. EIMFS manifesting with refractory tonic seizures was the most common. Cannabidiol, diet therapy, and quinidine seem to offer the best chances of seizure reduction, although evidence-based practice is still unavailable.

Knowledge, attitude and practice on medication error reporting among health practitioners in a tertiary care setting in Saudi Arabia.

OBJECTIVES: To assess knowledge, attitudes and practices towards the reporting of medication errors among health practitioners at King Abdulaziz Medical city in Riyadh, Kingdom of Saudi Arabia. Methods: A cross-sectional study using a self-administered questionnaire was conducted in a convenient sample of 62 physicians and 303 nurses, between June and September 2017 at King Abdulaziz Medical City, Riyadh, Kingdom of Saudi Arabia. Results: The sample consisted of 365 subjects, with a response rate of 73%. Approximately 97% had sufficient  knowledge and a favorable attitude (90%) towards medication error reporting. With regard to reporting practices, some participants (21.6%) preferred to educate those who made a medication error, rather than reporting it. Approximately 44.8% had not reported medication errors during their work experience. Conclusion: Study participants demonstrated a sufficient knowledge base with regard to medication error reporting. Despite sufficient knowledge and favorable attitudes towards medication error reporting, there is still an under-reporting of medication errors when it comes to practice. We recommend the establishment of frequent medication safety courses as a prerequisite for all health care providers. We also advocate the application of error detecting alarms such as digital programs to minimize medication errors.

Health-Related Predictors of Quality of Life in Cancer Patients in Saudi Arabia.

Research on Saudi Arabian cancer patients is a priority at King Abdulaziz Medical City (KAMC), Riyadh, Saudi Arabia. Because there is limited research on the quality of life (QoL) of Saudi Arabian cancer patients, the aim of this study was to identify the predictors of the QoL in a sample of Saudis with cancer. In August 2016, a cross-sectional study was conducted on 438 patients with a variety of cancer types (145 breast, 109 colorectal, 38 leukemia, 45 lymphoma, and 99 other types) who attended the Oncology Outpatient Clinics at KAMC. Sociodemographics, clinical symptoms, and cancer treatments were collected for each patient. We used the SF-36 instrument to assess QoL. Of the cancer patients studied, 28.4% had a family history of cancer, and, according to subgroup analyses, the elderly, those lacking formal education, the unemployed, those diagnosed with Stage III/IV, and those with metastasis had significantly worse physical functions than the other cancer patients. According to multiple linear regression analyses, cancer patients who exercised regularly tended to have better physical function, emotional role function, vitality, social function, and general health (increase in SF-36 scores of 8.82, 9.75, 5.54, 6.66, and 4.97, respectively). Patients with first-year-after-cancer diagnosis tended to have poor emotional wellbeing, social function, and general health (decrease in SF-36 scores of 5.20, 7.34, and 6.12, respectively). Newly diagnosed cancer patients and patients who did not exercise tended to experience significantly poor QoL in several domains; thus, the effectiveness of exercise must be assessed in Saudi cancer patients as an intervention to improve QoL.

The predictors of poor quality of life in a sample of Saudi women with breast cancer.

BACKGROUND: The protocols for treatment, along with many adverse effects, can strongly affect cancer patients' quality of life (QoL). As there is limited research on the QoL of Saudi Arabian women being treated for breast cancer, the purpose of this study was to identify the predictors of poor QoL in a sample of Saudi women with breast cancer. METHODS: A cross-sectional study was conducted on 145 Saudi women with breast cancer who attended the Oncology Outpatient Clinic at King Abdulaziz Medical City, Riyadh for routine follow-up. Sociodemographic and clinical data were collected for each patient, and a Medical Outcome Study Health Survey 36-Item Short Form (SF-36) instrument was used to assess QoL. RESULTS: Of 145 breast cancer patients studied, 42.1% had a family history of cancer and 52.4% were newly diagnosed cancer patients (first-year-after-cancer diagnosis). According to linear regression analyses, cancer patients with metastasis tended to have pain, along with poor physical function, little vitality, and poor general health (a decrease in SF-36 scores of 22.9, 15.0, 19.4, and 16.9, respectively). Regular exercise was a positive predictor of poor general health (an increase in the SF-36 score of 8.2). Patients with first-year-after-cancer diagnoses tended to have poor emotional well-being (a decrease in the SF-36 score of 8.5). CONCLUSION: In breast cancer patients, regular exercise was a significant positive predictor of better general health. Breast cancer patients with multiple tumors, metastasis, or fever tended to experience significantly poor QoL in several SF-36 domains. Clearly, a routine assessment of QoL in breast cancer patients is important.