Biallelic loss‐of‐function (LoF) of SLC13A5 (solute carrier family 13, member 5) induced deficiency in sodium/citrate transporter (NaCT) causes autosomal recessive developmental epileptic encephalopathy 25 with hypoplastic amelogenesis imperfecta (DEE25; MIM #615905). Many pathogenic SLC13A5 single nucleotide variants (SNVs) and small indels have been described; however, no cases with copy number variants (CNVs) have been sufficiently investigated. We describe a consanguineous Iraqi family harboring an 88.5 kb homozygous deletion including SLC13A5 in Chr17p13.1. The three affected male siblings exhibit neonatal‐onset epilepsy with fever‐sensitivity, recurrent status epilepticus, global developmental delay/intellectual disability (GDD/ID), and other variable neurological findings as shared phenotypical features of DEE25. Two of the three affected subjects exhibit hypoplastic amelogenesis imperfecta (AI), while the proband shows no evidence of dental abnormalities or AI at 2 years of age with apparently unaffected primary dentition. Characterization of the genomic architecture at this locus revealed evidence for genomic instability generated by an Alu/Alu‐mediated rearrangement; confirmed by break‐point junction Sanger sequencing. This multiplex family from a distinct population elucidates the phenotypic consequence of complete LoF of SLC13A5 and illustrates the importance of read‐depth‐based CNV detection in comprehensive exome sequencing analysis to solve cases that otherwise remain molecularly unsolved.

Objectives. Temporomandibular disorders (TMD) are a constellation of painful conditions that affect the craniofacial complex. The etiology and risk factors of these conditions have been extensively studied; however, the data available describing the epidemiology of TMD in the Middle East are scarce. We aimed to estimate the prevalence and risk factors of TMD-related pain in a sample population of dental school clinic patients. Methods. This observational cross-sectional study used a translated and culturally adapted temporomandibular disorders pain screener, a part of the Diagnostic Criteria/Temporomandibular Disorders (DC/TMD) criteria instrument, and questions related to demographic characteristics and risk factors for TMD. Data were analyzed through chi-square and Mann–Whitney U tests using SPSS. Results. The sample population included 199 participants (66% female and 34% male). The prevalence of TMD-related pain was 26.8% (n = 42); men and women did not differ statistically in their TMD-related pain. TMD-related pain cases differed significantly on the Center for Epidemiologic Studies Depression Scale (CES-D) and body pain scores compared with noncases. Conclusion. The prevalence of TMD-related pain in the clinical sample population was high. Hence, the onus is on dental health services to screen and educate patients on TMD conditions regularly.

Background: The aim of this study was to assess the knowledge of dental office environment during the pre- and post-COVID-19 pandemic, and attitude towards seeking dental treatment and care in a sample of participants who have access to dental care. Materials and Methods A structured 42 question survey questionnaire was utilized as the study instrument. The survey addressed three areas of knowledge regarding infection transmission in dental clinics, infection control measures used in dental clinics, and general knowledge about COVID-19. Descriptive statistics were presented. Associations between knowledge and attitude scales and demographic characteristics were evaluated. Results A total of 757 participants completed the survey. The study found that around one half of the respondents before the start of the COVID-19 pandemic would be regular visitors to the dentists. Approximately half reported visiting the dental clinic during the COVID-19 outbreak. Respondents reported the main sources of information they used to obtain information about the COVID-19 pandemic from official websites. There was a positive relationship between higher income and educational levels and greater knowledge concerning infection transmission in dental clinics and general knowledge about COVID-19. A significant positive relationship was found between the level of knowledge concerning infection transmission in dental clinics and agreement with the additional control measures taken during the pandemic. Conclusions The study population did not have an accurate understanding of the routes of transmission of the COVID-19 virus yet had a fair amount of knowledge about general infection control measures. Poor knowledge was associated with an increased perceived sense of security regarding seeking dental treatment among respondents.

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