A novel variant in ATM gene causes ataxia telangiectasia revealed by whole-exome sequencing.

Ataxia-Telangiectasia (A-T) is an autosomal recessive disorder caused by variants in ATM gene and characterized by progressive neurologic impairment, cerebellar ataxia, and oculo-cutaneous telangiectasia. Immunodeficiency with a recurrent sinopulmonary infections are observed in patients with A-T. Here, we report a novel stop codon variant, c.5944 C>T (p.Gln1982*), revealed by whole-exome sequencing in a 9-year old boy. He presented with recurrent upper respiratory tract infections, failure to thrive, developmental delay, ataxic gait, and bulbar telangiectasia.

Prevalence of obesity, overweight, underweight, and stunting among school children in Argo city, Northern Sudan.

School children pass through great physical and mental changes, which affect both their growth and school performance. We aim at determining the prevalence of obesity, overweight, underweight, and stunting among the primary school children in Argo city, Northern Sudan. This cross-section study recruited all primary school children aged 6 to 14 years in the city. Out of 1,387 participants, 1,223 were enrolled in the study (88.2%). The rest were excluded because of age over 14 years or parental refusal to participate in the study. Growth analysis of this cohort showed that 19 children (1.5%) were obese, 76 (6.2%) overweight, 56 (4.6%) underweight, 45 (3.7%) severely underweight, and 46 (3.8%) children were stunted. These findings indicate that establishing intervention measures to prevent risk factors leading to obesity and overweight is highly needed.

Clinical characteristics and aetiology of early childhood epilepsy: a single centre experience in Saudi Arabia.

Seizures in children and neonatal period have variety of causes; however, most of childhood seizures are idiopathic. The aim of this study was to review the causes of epilepsy in children presenting in the first 2 years of life using the International League Against Epilepsy classification released in 2010. This was a retrospective chart review study that was conducted at a tertiary center in Saudi Arabia. Two hundred and twenty-one patients were included in the study, 31 with conditions mimic epilepsy were excluded. The remaining 190 patients were classified into: Group A, structural/metabolic, 82 (43%); Group B, genetic, 24 (13%) and Group C, unknown, 84 (44%). The commonest seizures' type was tonic-clonic in 106 (56%), followed by clonic 29 (15.3%), myoclonic 22 (11.6%) and a tonic 16 (8.4%). Pyramidal signs, global developmental delay, hypotonia, micro/macrocephaly and abnormal computed tomography and/or magnetic resonance imaging brain were more common in the structural/metabolic group (p < 0.05). Electroencephalography was abnormal in 136 (72%) patients, mostly in the structural/metabolic group (p = 0.011). In conclusion, the aetiology of epilepsy in this cohort was mainly unknown or secondary to structural/metabolic causes.

The perception of safety culture among nurses in a tertiary hospital in Central Saudi Arabia.

Developing a patient safety culture was one of the recommendations made by the Institute of Medicine (IOM) to assist hospitals in improving patient safety. Nurses are the key to safety improvements in hospitals. It is necessary to know their awareness and perception regarding institutional safety climate. The aim of this study is to explore perceptions of patient safety among nursing staff in a tertiary hospital in Central Saudi Arabia in different discipline units. The current study was conducted at Prince Sultan Military Medical City (PSMMC), a tertiary center in Riyadh, Central Saudi Arabia. In November 2014, five hundred nurses were randomly selected to participate in this study. A survey questionnaire with Likert scale was adopted covering characteristics of participants together with their views on patient safety issues. Two hundred and twenty-four participants filled the questionnaire with a response rate of 44.8%. The overall perception of patient safety among participants was (57.9%). The majority (74.1%) thought that the existing system is good at preventing errors and only one third indicated that they have patient safety problems. Most of the participants were happy with the existing patient safety culture including organizational learning/continuous improvement (95.5%), and errors feedback and communication (76.64%). In conclusion, this study showed that perception of patient safety was sub-optimal among nurses and there are several areas for improvement regarding safety culture.

Factors affecting the retention of nurses. A survival analysis.

OBJECTIVE: To identify and explore factors that mostly influence nurses' turnover and retention, and to estimate the length of employment for nurses in the hospital. METHODS: This is a retrospective cohort study examining the standard Exit Questionnaires completed by all the female pediatric nurses who joined and left the hospital during the period between January 2006 and October 2010. The Developed Questionnaires where completed by nurses who were still employees in October 2010. The nurses who left the job will be considered as events and the nurses who are still working will be considered as censored. The study took place at the Pediatric Department, Prince Sultan Military Medical City (PSMMC), Riyadh, Saudi Arabia. RESULTS: A total of 254 nurses were included in the study. Most of the nurses left their jobs due to family reasons (39.7%) followed by other reasons (37.3%). Seventy five percent of all the pediatric nurses remained in their jobs, on average, for 2.2 years. Both simple and multivariate analysis indicated a strong positive correlation between length of employment (turnover) and the demographic and organization factors. CONCLUSION: This study has identified several factors that played a key role in staff retention, which can help in predicting nursing turnover at PSMMC. The findings of this study could help PSMMC and its Nursing Administration, in particular, to understand the seriousness of the high turnover rates, to develop and implement strategies to reduce this problem, and improve the retention of nursing staff.