A novel homozygous SLC13A5 whole-gene deletion generated by Alu/Alu-mediated rearrangement in an Iraqi family with epileptic encephalopathy.

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.

Prevalence of Temporomandibular Disorder-Related Pain among Adults Seeking Dental Care: A Cross-Sectional Study.

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.

Clinical extension of proximal carious lesions compared to bitewing radiographs using photostimulable phosphor plates (PSP).

OBJECTIVES: The aim of this study was to evaluate the use of digital bitewing radiographs using photostimulable phosphor (PSP) plates in the estimation of the true extension of proximal carious lesions. METHODS: The sample size was calculated to be 70 teeth. Adult patients with a minimum of one posterior tooth with primary proximal caries lesions were included. A preoperative bitewing radiograph was taken and the extension of the carious lesion was measured from the most prominent point on the adjacent sound tooth to the deepest axial point of the lesion. An experienced general dentist provided the restorative treatment and made a polyvinyl siloxane impression of the cavity preparation. Clinical caries extension was measured from the most prominent point of the adjacent tooth until the deepest boundary of the axial wall of the preparation on the impression. Postoperative radiographs were taken at the completion of restorative care. The bitewing radiographs were done using PSP plates and caries extension measurements were performed using measuring tools of the digital radiography software. Pairwise comparisons were made between preoperative and postoperative radiographs, and the true clinical depth measurements using paired t-tests. RESULTS: In total, 73 teeth from 44 subjects were included. A significant difference of 0.82 mm was found between preoperative radiographs and clinical measurements (p<0.001). Similarly, comparisons between preoperative and postoperative radiographic measurements showed significant differences of 0.99 mm (p<0.001). CONCLUSIONS: The study found that the true clinical extension of proximal caries after non-selective caries removal was significantly deeper than the preoperative radiographic extension assessment. This was not influenced by the tooth type, the location of the tooth, or the affected tooth surfaces. CLINICAL SIGNIFICANCE: When a non-selective caries removal strategy is adopted, clinicians should be aware that PSP bitewing radiographs underestimate the true clinical extension of proximal caries lesions. This will have an impact on clinicians' practice and restorative treatment decisions.