Pathogenic variants in GEMIN4 contribute to a hereditary disorder characterized by neurodevelopmental features, microcephaly, cataracts, and renal abnormalities (known as NEDMCR). To date, only two homoallelic variations have been linked to the disease. Moreover, clinical features associated with the variants have not been fully elucidated yet. Here, we identified a novel variant in GEMIN4 (NM_015721:exon2:c.440A>G:p.His147Arg) in two siblings from a consanguineous Saudi family by using whole exome sequencing followed by Sanger sequence verification. We comprehensively investigated the patients’ clinical features, including brain imaging and electroencephalogram findings, and compared their phenotypic characteristics with those of previously reported cases. In silico prediction and structural modeling support that the p.His147Arg variant is pathogenic.

Patient safety is a serious concern in the health care industry. To enhance patient safety, healthcare providers are expected to minimize accidental harm to patients and enhance the quality of patient-centered care. The main objective of this study is to explore the awareness of the patient safety culture among healthcare providers. It is further intended to assess key fields and factors that hinder patient safety adoption and determine the effects of demographic factors on healthcare providers' awareness of patient safety culture. This study applied a cross-sectional quantitative design. It was conducted in a tertiary hospital in Riyadh, Saudi Arabia. The participants consisted of all healthcare providers working in a specific tertiary hospital in Saudi Arabia. A random sampling technique was applied in this study. The study sample size was 409 participants. A valid and reliable questionnaire was used to collect the required data. The T-tests, ANOVA. And regression was used. The study found that there is a moderate level of patient safety culture awareness among healthcare providers. Moreover, the findings also revealed that the age group “31–40” showed statistically different awareness levels as compared to the “more than 50 years' age group” (p = 0.012). Also, this study has found that gender and education have a significant influence on the awareness level of patient safety culture while position and work area have no influence on the awareness level of patient safety culture among healthcare providers. Managers in healthcare institutions should develop speeder response plans and make them part of the patient safety culture. Institutions offering bachelor's degrees and postgraduate in nursing should pay more attention to the subject of patient safety. The government healthcare sector, together with the private healthcare sector, should continuously train healthcare providers on patient safety procedures to improve the patient safety culture. Healthcare providers should be encouraged to report errors made during diagnosis or treatments to avoid them in the future.

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BackgroundSLC13A5 (solute carrier family 13, member 5) encodes sodium/citrate cotransporter, which mainly localizes in cellular plasma membranes in the frontal cortex, retina, and liver. Pathogenic variants of the gene cause an autosomal recessive syndrome known as “developmental and epileptic encephalopathy 25 with amelogenesis imperfecta.”ResultsHere, we have investigated six patients from three different consanguineous Saudi families. The affected individuals presented with neonatal seizures, developmental delay, and significant defects in tooth development. Some patients showed other clinical features such as muscle weakness, motor difficulties, intellectual disability, microcephaly, and speech problems in addition to additional abnormalities revealed by electroencephalography (EEGs) and magnetic resonance imaging (MRI). One of the MRI findings was related to cortical thickening in the frontal lobe. To diagnose and study the genetic defects of the patients, whole exome sequencing (WES) coupled with confirmatory Sanger sequencing was utilized. Iterative filtering identified two variants of SLC13A5, one of which is novel, in the families. Families 1 and 2 had the same insertion (a previously reported mutation), leading to a frameshift and premature stop codon. The third family had a novel splice site variant. Confirmatory Sanger sequencing corroborated WES results and indicated full segregation of the variants in the corresponding families. The patients’ conditions were poorly controlled by multiple antiepileptics as they needed constant care.ConclusionConsidering that recessive mutations are common in the Arab population, SLC13A5 screening should be prioritized in future patients harboring similar symptoms including defects in molar development.