Design and field procedures for the clinical reappraisal of the Composite International Diagnostic Interview version 3.3 in Qatar's national mental health study

Background The Composite International Diagnostic Interview (CIDI) has been clinically reappraised in several studies conducted mainly in the US and Europe. This report describes the methodology used to conduct one of the Middle East's largest clinical reappraisal studies. The study was carried out in conjunction with the World Mental Health Qatar—the first national psychiatric epidemiological study of common mental disorders in the country. This study aimed to evaluate the diagnostic consistency of core modules of the newly translated and adapted Arabic version of the CIDI 5.0 against the independent clinical diagnoses based on the Structured Clinical Interview for DSM-5 (SCID-5). Methods Telephone follow-up interviews were administered by trained clinicians using the latest research edition of the SCID for DSM-5. Telephone administered interviews were key in the data collection, as the study took place during the COVID-19 pandemic. Results Overall, within 12 months, 485 interviews were completed. The response rate was 52%. Quality control monitoring documented excellent adherence of clinical interviews to the rating protocol. Conclusions The overall methods used in this study proved to be efficient and effective. For future research, instrument cultural adaptation within the cultural context is highly recommended

An Investigation of Microsoft Azure and Amazon Web Services from Users’ Perspectives

Cloud computing is one of the paradigms that have undertaken to deliver the utility computing concept. It views computing as a utility similar to water and electricity. We aim in this paper to make an investigation of two highly efficacious Cloud platforms: Microsoft Azure (Azure) and Amazon Web Services (AWS) from users’ perspectives the point of view of users. We highlight and compare in depth the features of Azure and AWS from users’ perspectives. The features which we shall focus on include (1) Pricing, (2) Availability, (3) Confidentiality, (4) Secrecy, (5) Tier Account and (6) Service Level Agreement (SLA). The study shows that Azure is more appropriate when considering Pricing and Availability (Error Rate) while AWS is more appropriate when considering Tier account. Our user survey study and its statistical analysis agreed with the arguments made for each of the six comparisons factors

Final Exon Frameshift Biallelic PTPN23 Variants Are Associated with Microcephalic Complex Hereditary Spastic Paraplegia.

The hereditary spastic paraplegias (HSPs) are a large clinically heterogeneous group of genetic disorders classified as 'pure' when the cardinal feature of progressive lower limb spasticity and weakness occurs in isolation and 'complex' when associated with other clinical signs. Here, we identify a homozygous frameshift alteration occurring in the last coding exon of the protein tyrosine phosphatase type 23 (PTPN23) gene in an extended Palestinian family associated with autosomal recessive complex HSP. PTPN23 encodes a catalytically inert non-receptor protein tyrosine phosphatase that has been proposed to interact with the endosomal sorting complex required for transport (ESCRT) complex, involved in the sorting of ubiquitinated cargos for fusion with lysosomes. In view of our data, we reviewed previously published candidate pathogenic PTPN23 variants to clarify clinical outcomes associated with pathogenic gene variants. This determined that a number of previously proposed candidate PTPN23 alterations are likely benign and revealed that pathogenic biallelic PTPN23 alterations cause a varied clinical spectrum comprising of complex HSP associated with microcephaly, which may occur without intellectual impairment or involve more severe neurological disease. Together, these findings highlight the importance of the inclusion of the PTPN23 gene on HSP gene testing panels globally.The article is available via Open Access. Click on the 'Additional link' above to access the full-text.Published version, accepted version, submitted versio

Consolidating biallelic SDHD variants as a cause of mitochondrial complex II deficiency.

Isolated mitochondrial complex II deficiency is a rare cause of mitochondrial respiratory chain disease. To date biallelic variants in three genes encoding mitochondrial complex II molecular components have been unequivocally associated with mitochondrial disease (SDHA/SDHB/SDHAF1). Additionally, variants in one further complex II component (SDHD) have been identified as a candidate cause of isolated mitochondrial complex II deficiency in just two unrelated affected individuals with clinical features consistent with mitochondrial disease, including progressive encephalomyopathy and lethal infantile cardiomyopathy. We present clinical and genomic investigations in four individuals from an extended Palestinian family with clinical features consistent with an autosomal recessive mitochondrial complex II deficiency, in which our genomic studies identified a homozygous NM_003002.3:c.[205?G?>?A];[205?G?>?A];p.[(Glu69Lys)];[(Glu69Lys)] SDHD variant as the likely cause. Reviewing previously published cases, these findings consolidate disruption of SDHD function as a cause of mitochondrial complex II deficiency and further define the phenotypic spectrum associated with SDHD gene variants.RD&E staff can access the full-text of this article by clicking on the 'Additional Link' above and logging in with NHS OpenAthens if prompted.Accepted version (6 month embargo), submitted versio

TECPR2-related hereditary sensory and autonomic neuropathy in two siblings from Palestine

Due to the majority of currently available genome data deriving from individuals of European ancestry, the clinical interpretation of genomic variants in individuals from diverse ethnic backgrounds remains a major diagnostic challenge. Here, we investigated the genetic cause of a complex neurodevelopmental phenotype in two Palestinian siblings. Whole exome sequencing identified a homozygous missense TECPR2 variant (Chr14(GRCh38):g.102425085G>A; NM_014844.5:c.745G>A, p.(Gly249Arg)) absent in gnomAD, segregating appropriately with the inheritance pattern in the family. Variant assessment with in silico pathogenicity prediction and protein modeling tools alongside population database frequencies led to classification as a variant of uncertain significance. As pathogenic TECPR2 variants are associated with hereditary sensory and autonomic neuropathy with intellectual disability, we reviewed previously published candidate TECPR2 missense variants to clarify clinical outcomes and variant classification using current approved guidelines, classifying a number of published variants as of uncertain significance. This work highlights genomic healthcare inequalities and the challenges in interpreting rare genetic variants in populations underrepresented in genomic databases. It also improves understanding of the clinical and genetic spectrum of TECPR2-related neuropathy and contributes to addressing genomic data disparity and inequalities of the genomic architecture in Palestinian populations.Published version, accepted version (12 month embargo)The article is available via Open Access. Click on the 'Additional link' above to access the full-text