Case report: Homozygous variants of NEB and KLHL40 in two Arab patients with nemaline myopathy.

Objective: Nemaline myopathies are a heterogeneous group of congenital myopathies caused by mutations in different genes associated with the structural and functional proteins of thin muscular filaments. Most patients have congenital onset characterized by hypotonia, respiratory issues, and abnormal deep tendon reflexes, which is a phenotype encountered in a wide spectrum of neuromuscular disorders. Whole-exome sequencing (WES) contributes to a faster diagnosis and facilitates genetic counseling. Methods: Here, we report on two Arab patients from consanguineous families diagnosed with nemaline myopathy of different phenotype spectrum severities. Results: Clinical assessment and particular prenatal history raised suspicion of neuromuscular disease. WES identified homozygous variants in NEB and KLHL40. Muscle biopsy and muscle magnetic resonance imaging studies linked the genetic testing results to the clinical phenotype. The novel variant in the NEB gene resulted in a classical type 2 nemaline myopathy, while the KLHL40 gene variant led to a severe phenotype of nemaline myopathy, type 8. Both patients were identified as having other gene variants with uncertain roles in their complex phenotypes. Conclusions: This study enriches the phenotypic spectrum of nemaline myopathy caused by NEB and KLHL40 variants and highlights the importance of detailed prenatal, neonatal, and infancy assessments of muscular weakness associated with complex systemic features. Variants of uncertain significance in genes associated with nemaline myopathy may be correlated with the phenotype. Early, multidisciplinary intervention can improve the outcome in patients with mild forms of nemaline myopathies. WES is essential for clarifying complex clinical phenotypes encountered in patients from consanguineous families. Targeted carrier screening of extended family members would enable accurate genetic counseling and potential genetic prevention.

Assessment of the implementation of problembased learning model in Saudi medical colleges: a cross-sectional study.

BACKGROUND: Problem-based learning (PBL) is a method by which students solve clinical scenarios in a small group discussion. The aim of this study was to assess the implementation of PBL in Saudi Universities. METHODS: This is a cross-sectional study including 151 participants from 16 universities. A questionnaire was distributed to the faculty members through e-mail messages. The questionnaire consisted of 35 questions with 5-point Likert scale arranged in three subscales. RESULTS: The total mean of PBL implementation score was 2.5 (SD =0.39). The scores of the three PBL implementation subscales showed marked variance, with the average score of the subscale "overall PBL experience in my college" being the most highly affected, with an average score of (3.07, SD =0.72), followed by "implementation of PBL model" (2.36, SD=0.47). The least affected subscale was "preparation for PBL implementation" (2.13, SD =0.67). CONCLUSION: Relatively moderate level of PBL implementation was observed in Saudi Arabia. However, we suggest that more courses should be introduced in order to improve the skills of faculty members and provide a strong infrastructure to implement PBL model in Saudi medical colleges.

Pattern of upper respiratory tract infections and physicians' antibiotic prescribing practices in Bahrain.

OBJECTIVE: To evaluate the pattern of antibiotic prescriptions for paediatric upper respiratory tract infections (URTI) and determine the associated predictors for such antibiotic use in the Kingdom of Bahrain. SUBJECTS AND METHODS: From March 2005 to March 2006, demographic data, clinical presentation, investigations and antibiotic prescription for children with URTI (n = 184) at the Bahrain Defence Force Hospital was recorded. To assess the factors which influence physician antibiotic prescription for URTI, a cross-sectional survey of doctors was carried out using a pre-tested questionnaire which was administered to paediatricians, general practitioners and emergency room physicians. RESULTS: Antibiotics were given to 95 of the 184 (51.6%) patients, mainly children <3 years (40/95). Significant association was demonstrated for antibiotic prescription, age and diagnosis of tonsillitis or acute otitis media (p < 0.05). Amoxicillin (37/95) was the most frequently prescribed antibiotic, followed by beta-lactam/beta-lactamase combination and second-generation cephalosporins. Fever, younger age, sore throat and presence of earache increased the likelihood of antibiotic prescription. Data from the cross-sectional survey of doctors revealed that lack of national guidelines, parental pressure and diagnostic uncertainty contributed to antibiotic overuse. CONCLUSION: Antibiotic overuse for the treatment of paediatric URTI remains a problem in our setting. We suggest the development of national guidelines which are integrated with structured continuing medical education courses, public awareness campaigns and the introduction of rapid streptococcal antigen tests in the outpatient clinic.