A Novel PTRH2 Gene Mutation Causing Infantile-onset Multisystem Neurologic, Endocrine, and Pancreatic Disease in a Bahraini Patient.

Infantile-onset multisystem neurologic, endocrine, and pancreatic disease (IMNEPD) is a rare autosomal recessive multisystemic disease with a prevalence of < 1/1 000 000. The wide spectrum of symptoms and associated diseases makes the diagnosis of this disease particularly challenging. Here, we report a 12-year-old Bahraini male who presented with the core clinical features of IMNEPD including intellectual disability, global developmental delay, sensorineural hearing loss, endocrine dysfunction, and exocrine pancreatic insufficiency. The diagnosis was confirmed by genetic testing using whole exome sequencing. This is the first reported case of IMNEPD from Bahrain and was found to have a novel homozygous peptidyl-tRNA hydrolase 2 (PTRH2) gene mutation (NM_001015509.2: c.370del p.(Glu124Lysfs*4)). Moreover, we conducted an extensive literature review with an emphasis on the variable clinical spectrum and genotypes of previously reported patients in comparison to our case.

Validity and reliability of the WHOQOL-BREF in the measurement of the quality of life of Sickle disease patients in Bahrain.

Background: Limited attention is devoted to the improvement of the quality of life of patients suffering from the negative consequences of Sickle cell disease (SCD). Our study focuses on the evaluation of the performance of the WHOQOL-BREF as a tool to measure the quality of life of SCD Patients in Bahrain. Methods: We conducted a cross-sectional study that enrolled 273 SCD patients selected using a simple random sampling technique from primary health-care centers in Bahrain in 2019. A designed questionnaire including the WHOQOL-BREF was filled by the patients in the health centers. The reliability of the WHOQOL-BREF was assessed by standardized Cronbach's alpha coefficient, and the validity was measured by convergent validity, principal component analysis and confirmatory factor analysis. Results: The WHOQOL-BREF had good internal consistency as Cronbach's alpha coefficient for the overall scale was 0.91. The convergent validity results indicated that the correlation coefficients values for all scale domains are significantly correlated at α < 0.01. Confirmatory factor analysis found that the four-domain structure produced a robust fit to the data. Conclusion: The WHOQOL-BREF tool has high internal consistency and validity in assessing the quality of life of Sickle Disease patients in Bahrain.