GJB2 mutations: passage through Iran

Hereditary hearing loss (HHL) is a very common disorder. When inherited in an autosomal recessive manner, it typically presents as an isolated finding. Interestingly and unexpectedly, in spite of extreme heterogeneity, mutations in one gene, GJB2, are the most common cause of congenital severe-to-profound deafness in many different populations. In this study, we assessed the contributions made by GJB2 mutations and chromosome 13 g.1777179_2085947del (the deletion more commonly known as del (GJB6-D13S1830) that includes a portion of GJB6 and is hereafter called Delta(GJB6-D13S1830)) to the autosomal recessive non-syndromic deafness (ARNSD) genetic load in Iran. Probands from 664 different nuclear families were investigated. GJB2-related deafness was found in 111 families (16.7%). The carrier frequency of the 35delG mutation showed a geographic variation that is supported by studies in neighboring countries. Delta(GJB6-D13S1830) was not found. Our prevalence data for GJB2-related deafness reveal a geographic pattern that mirrors the south-to-north European gradient and supports a founder effect in southeastern Europe.     

Nkx2.5‐negative myocardium of the posterior heart field and its correlation with podoplanin expression in cells from the developing cardiac pacemaking and conduction system

Recent advances in the study of cardiac development have shown the relevance of addition of myocardium to the primary myocardial heart tube. In wild‐type mouse embryos (E9.5–15.5), we have studied the myocardium at the venous pole of the heart using immunohistochemistry and 3D reconstructions of expression patterns of MLC‐2a, Nkx2.5, and podoplanin, a novel coelomic and myocardial marker. Podoplanin‐positive coelomic epithelium was continuous with adjacent podoplanin‐ and MLC‐2a‐positive myocardium that formed a conspicuous band along the left cardinal vein extending through the base of the atrial septum to the posterior myocardium of the atrioventricular canal, the atrioventricular nodal region, and the His‐Purkinje system. Later on, podoplanin expression was also found in the myocardium surrounding the pulmonary vein. On the right side, podoplanin‐positive cells were seen along the right cardinal vein, which during development persisted in the sinoatrial node and part of the venous valves. In the MLC‐2a‐ and podoplanin‐positive myocardium, Nkx2.5 expression was absent in the sinoatrial node and the wall of the cardinal veins. There was a mosaic positivity in the wall of the common pulmonary vein and the atrioventricular conduction system as opposed to the overall Nkx2.5 expression seen in the chamber myocardium. We conclude that we have found podoplanin as a marker that links a novel Nkx2.5‐negative sinus venosus myocardial area, which we refer to as the posterior heart field, with the cardiac conduction system. Anat Rec, 290:115–122, 2007. © 2006 Wiley‐Liss, Inc.     

Prevalence and correlates of chronic fatigue syndrome and post-traumatic stress disorder after the outbreak of the COVID-19

Journal of NeuroVirology - As the SARS-COV-2 becomes a global pandemic, many researchers have a concern about the long COVID-19 complications. Chronic fatigue syndrome/myalgic encephalomyelitis...     

Immune Checkpoint Inhibitors and Beyond: An Overview of Immune-Based Therapies in Merkel Cell Carcinoma

American Journal of Clinical Dermatology - Merkel cell carcinoma (MCC) is an aggressive skin cancer. Until 2017, patients with advanced disease were typically treated with conventional...     

Persian Version of the Yale Food Addiction Scale 2.0: Psychometric Analysis and Setting Cutoff Point for the Food Cravings Questionnaire-Trait-Reduced

ObjectiveThe aims of this study were to evaluate the psychometric properties of Persian translation of the Yale Food Addiction Scale 2.0 (YFAS 2.0) as a widely accepted questionnaire for the first time and to establish a cut off score for Food Craving Questionnaire-Trait-reduced (FCQ-T-r). MethodsIn this cross-sectional study, 330 visitors of family physician clinics in Shiraz, a city located in south of Iran, were selected. The English version of YFAS 2.0 was translated into Persian and used in this study as well as the Persian version of FCQ-T-r. ResultsConfirmatory factor analysis of YFAS-2 confirmed one dimensional structure and factor loading in all eleven symptoms was above 0.4. Internal consistency for eleven symptoms was 0.813. Prevalence of food addiction in participants was 6.7% (22 participants). BMI and FCQ-T-r questionnaire score both were positively correlated with the number of food addiction symptoms but age was negatively correlated with the number of the symptoms. The ROC curve analysis showed the best suggested cut-off point for FCQ-T-r questionnaire to detect food addiction was 32.5. ConclusionThe present study confirmed validity and reliability of Persian version of YFAS-2. It is suggested that food addiction occurs in different level of food craving behavior in different food cultures or genetics.     

Marginal adaptation of zirconia complete-coverage fixed dental restorations made from digital scans or conventional impressions: A systematic review and meta-analysis

Statement of problemIntraoral scanners have been increasingly used in recent years. However, the accuracy of digital scans as it affects marginal adaptation is unclear.PurposeThe purpose of this systematic review and meta-analysis was to compare the marginal adaptation of single-unit zirconia crowns fabricated with digital scans or with conventional impressions.Material and methodsThe electronic databases PubMed (MEDLINE), Cochrane Central Register of Controlled Trials (CENTRAL), Web of Science (ISI), Scopus, and EMBASE were searched and complemented by a manual search. Risks of bias were assessed by using a modified methodological index for nonrandomized studies (MINORS). Mean ±standard deviation (SD) values of marginal accuracy of studies were extracted for both methods. Mean marginal difference and 95% confidence interval (CI) were calculated to evaluate the marginal accuracy of each method. Pooled data were statistically analyzed by using a random-effect model.ResultsSeventeen studies were used to perform the meta-analysis. Subgroup analysis was performed based on intraoral scanners. Standardized mean marginal difference and 95% CI of each subgroup were as follows: Lava: -0.85 μm (95% CI: -1.67, -0.03) (P=.043); CEREC: -1.32 μm (95% CI: -2.06, -0.59) (P<.001); iTero: -0.44 μm (95% CI: -1.35, 0.47) (P=.338); TRIOS: -1.26 μm (95% CI: -2.02, -0.51) (P=.001); unknown scanner: -0.21 μm (95% CI: -1.14, 0.72); all studies: -0.89 μm (95% CI: -1.24, -0.54) (P<.001).ConclusionsDigital scanning of prepared teeth for single-unit zirconia restorations resulted in better marginal accuracy than conventional techniques using elastomeric impression materials.     

Effect of Er:YAG laser etching on topography,microstructure, compressive strength,and bond strength of a universal adhesive to calcium silicate cements

To evaluate the effect of Er:YAG etching on topography, microstructure, compressive strength, and shear bond strength (SBS) of All-Bond Universal adhesive