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Shahriar Sepahvand,1 Mohammad Ali Davarpanah,2 Amir Roudgari,3 Abbas Bahador,4 Vajihe Karbasizade,5 Zahra Kargar Jahromi6 1Department of Microbiology, Falavarjan Branch, Islamic Azad University, Isfahan, Iran; 2Shiraz HIV/AIDS Research Center, Institute of Health, Shiraz University of Medical Sciences, Shiraz, Iran; 3Shiraz Trauma Center, Shiraz University of Medical Sciences, Shiraz, Iran; 4Department of Microbiology, Faculty of Medicine, Tehran University of Medical Sciences, Tehran, Iran; 5Department of Microbiology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran; 6Zoonoses Research Center, Jahrom University of Medical Sciences, Jahrom, Iran Background: Acinetobacter baumannii is an important human pathogen which has recently gained increased attention due to the occurrence of drug-resistant nosocomial infections in patients suffering from immune system disorders, and those in hospital intensive care units. The aim of this research was to identify and isolate A. baumannii strains resistant to colistin, determine antibiotic resistance pattern of this bacteria, investigate the presence of colistin-resistant genes, and finally assess the effect of expression changes in pmrA and pmrB genes resistant to A. baumannii against colistin via real-time polymerase chain reaction.Methods: The samples were initially purified and isolated using biochemical tests and Microgen kit. Later, the resistance pattern evaluation of validated samples to different antibiotics and colistin was carried out using two methods viz., disc diffusion and E-test. This was followed by the assessment of genes resistant to colistin via polymerase chain reaction besides gene expression changes via real-time polymerase chain reaction. Results: The results of this study indicated that eleven strains of A. baumannii isolated from Shahid Rajaee Trauma Hospital were resistant to colistin. However, in the resistance pattern evaluation of A. baumannii isolated from Ali Asghar Hospital, all the strains were sensitive to colistin. In the evaluation of genes resistant to pmrA and pmrB, most of the strains resistant to colistin were carriers of these genes. Besides, in the expression assessment of these genes, it was demonstrated that expression of pmrA in the strains resistant to colistin significantly increased in relation to sensitive strains, but the expression of pmrB increased at a lower rate in the strains resistant to colistin as compared to the sensitive strains. Conclusion: Thus, it can be safely mentioned that increased expression of pmrA was due to the resistance of A. baumannii to colistin. Keywords: Acinetobacter baumannii, colistin, real-time PCR, gene expression, PCR

Abstract Background This study aims to validate a machine learning algorithm previously developed in a training population on a different randomly chosen population (i.e., test set). The discrimination potential of the palatal intraoral scan-based geometric and superimposition methods was evaluated. Methods A total of 23 participants (16 females and seven males) from different countries underwent palatal scans using the Emerald intraoral scanner. Geometric-based identification involved measuring the height, width, and depth of the palatal vault in each scan. These parameters were then input into Fisher’s linear discriminant equations with coefficients determined previously on a training set. Sensitivity and specificity were calculated. For the superimposition method, scan repeatability was compared to between-subjects differences, calculating mean absolute differences (MAD) between aligned scans. Multiple linear regression analysis determined the effects of sex, longitude, and latitude of country of origin on concordance. Results The geometric-based method achieved 91.2% sensitivity and 97.1% specificity, consistent with the results from the training set, showing no significant difference. Latitude and longitude did not significantly affect geometric-based matches. In the superimposition method, the between-subjects MAD range (1.068–0.214 mm) and the repeatability range (0.011–0.093 mm) did not overlap. MAD was minimally affected by longitude and not influenced by latitude. The sex determination function recognized females over males with 69.0% sensitivity, similar to the training set. However, the specificity (62.5%) decreased. Conclusions The assessment of geometric and superimposition discrimination has unequivocally demonstrated its robust reliability, remaining impervious to population. In contrast, the distinction between sexes carries only moderate reliability. The significant correlation observed among longitude, latitude, and palatal height suggests the feasibility of a comprehensive large-scale study to determine one’s country of origin. Clinical significance Portable intraoral scanners can aid forensic investigations as adjunct identification methods by applying the proposed discriminant function to palatal geometry without population restrictions. Trial registration The Clinicatrial.gov registration number is NCT05349942 (27/04/2022).

Abstract Background Pontocerebellar hypoplasia is an umbrella term describing a heterogeneous group of prenatal neurodegenerative disorders mostly affecting the pons and cerebellum, with 17 types associated with 25 genes. However, some types of PCH lack sufficient information, which highlights the importance of investigating and introducing more cases to further elucidate the clinical, radiological, and biochemical features of these disorders. The aim of this study is to provide an in-depth review of PCH and to identify disease genes and their inheritance patterns in 12 distinct Iranian families with clinically confirmed PCH. Methods Cases included in this study were selected based on their phenotypic and genetic information available at the Center for Comprehensive Genetic Services. Whole-exome sequencing (WES) was used to discover the underlying genetic etiology of participants' problems, and Sanger sequencing was utilized to confirm any suspected alterations. We also conducted a comprehensive molecular literature review to outline the genetic features of the various subtypes of PCH. Results This study classified and described the underlying etiology of PCH into three categories based on the genes involved. Twelve patients also were included, eleven of whom were from consanguineous parents. Ten different variations in 8 genes were found, all of which related to different types of PCH. Six novel variations were reported, including SEPSECS, TSEN2, TSEN54, AMPD2, TOE1, and CLP1. Almost all patients presented with developmental delay, hypotonia, seizure, and microcephaly being common features. Strabismus and elevation in lactate levels in MR spectroscopy were novel phenotypes for the first time in PCH types 7 and 9. Conclusions This study merges previously documented phenotypes and genotypes with unique novel ones. Due to the diversity in PCH, we provided guidance for detecting and diagnosing these heterogeneous groups of disorders. Moreover, since certain critical conditions, such as spinal muscular atrophy, can be a differential diagnosis, providing cases with novel variations and clinical findings could further expand the genetic and clinical spectrum of these diseases and help in better diagnosis. Therefore, six novel genetic variants and novel clinical and paraclinical findings have been reported for the first time. Further studies are needed to elucidate the underlying mechanisms and potential therapeutic targets for PCH.

Background: Temporomandibular disorders (TMD) include a number of clinical conditions involving the masticatory muscles, temporomandibular joint (TMJ), and adjacent structures. The main feature of TMD is pain. According to past studies, TMD can have genetic causes. One of the genes that seems to be important in this regard is COMT. This study aims to compare the effect of COMT gene polymorphism rs4680 on the occurrence of simultaneous head, neck and back pain in patients with TMD. Methods: This study was conducted as a case-control study on patients aged between 18 and 65 years who had TMD disorder. After meeting the conditions for entering the study, a written informed consent was obtained from the people participating in this project. Then a blood sample of 5cc was prepared from each person and poured into tubes containing EDTA anticoagulant and used for DNA extraction and identification. The COMT gene was sent to the genetics laboratory and was compared in terms of the polymorphism of the COMT gene using the PCRARMS technique. Results: The sample size was 100 people aged 18 to 65 years. Variables with normal distribution were analyzed with Chi-Square test and variables with non-normal distribution with Mann-Whitney test. After genetic analysis in terms of rs4680 gene polymorphism, 18 people (18%) were identified with AA, 80 people (80%) with GA and 2 people (2%) with GG. "temporal headache in the last 30 days", "temporal headache change with chewing hard foods", "temporal headache change with opening the mouth or moving the jaw forward or to the sides", " Temporal headache changes with jaw habits such as teeth touching, pressing or grinding teeth together, chewing gum ", " Temporal headache changes with jaw activities such as talking, kissing or yawning ", " having Back pain during the last 4 weeks", having pain in the arm, leg, joints (neck) during the last 4 weeks", “headache during 4 last weeks” and "time of onset of headache in the temporal region" did not have significant relationships with COMT gene polymorphism rs4680 in patients with TMD.(repectively, p value=0.873، p value=0.658، p value=0.518 p value=0.685، p value=0.884،p value=0.654، p value=0.723، p value=0.831، p value=0.692 ). Conclusion: According to previous studies, there is a significant relationship between rs4680 polymorphism in the COMT gene and the occurrence of temporomandibular disorders (TMD), although in our study, no significant relationship was found between headache and neck and back pain with this polymorphism.

Background and Objectives: Pain is the most leading cause of visits to physicians and dentists. It is also a common symptom of diseases that can significantly undermine the quality of life and physical activities. This study aimed to review the existing literature for the causes of temporomandibular disorders (TMD) from the genetic point of view. Materials and Methods: Four international scientific databases including Google Scholar, Biomed Central, PubMed, and ProQuest plus two Iranian databases including Magiran and SID. Then all articles published between 1980 and 2019 were searched using the following keywords: facial pain, genetic factors and temporomandibular disorders (TMDs). A total of 900 articles were found that 36 were review articles. Results: Our review shows that genetic factors have an impact on the incidence and pathology of TMDs These factors include TSPAN9 polymorphism and the COMT gene. Conclusion: There is growing evidence indicating that genetic factors play a key role in the pathology of temporomandibular disorders, however, the underlying mechanism of pain is still largely unknown. Keywords: Facial pain; Genetic factors; Temporomandibular joint disorder (TMD).

Objective: One of the concerns of dentists is the referral of patients with temporomandibular problems. Temporomandibular joint disorders (TMD) is a complex multifactorial clinical problem that involves masticatory muscles, temporomandibular joint and related structures. This complication is one of the three common chronic pains after headache and low back pain, which can manifest as pain in the temporomandibular region and limitation in joint movements, or even as clicking, crepitus, and popping sounds during temporomandibular joint movements. For the first time, the american association for oral pain (AAOP) proposed the role of genetic factors in the development of TMD. It is thought that a complex disorder such as TMD is multidimensional and can be subjected to environmental conditions as well as multiple gene polymorphisms. Identification of single nucleotide polymorphisms in the human genome can play an important role in clinical setting for diagnosis, prognosis and therapeutic interventions in various diseases including TMD. The aim of this study was to evaluate the relationship between polymorphism of galactose mutarotase gene by creating jaw sound in patients with temporomandibular disorder in a population with high similarity to the whole Iranian population and using the results in prevention and targeted treatment of affected patients. Study Design: 101 patients with TMD using DC/TMD criteria among those referred to Tehran University School of Dentistry and 103 healthy subjects for TMD that have age and gender matched were selected to control groupfrom those referring to the Oral and Maxillofacial Diseases and Oral and Maxillofacial Pain departments. Blood samples were taken in 5cc and DNA extracted from the blood of both groups by applying the technique PCRARMS in terms of polymorphism rs4776783 in Galm gene were Compared. Results: 101 patients with TMD along with 103 healthy individuals without a history of TMD were evaluated to investigate rs4776783 polymorphism in GALM gene. The average age of the patients was 35.92, and 21 were men and 80 were women. According to the questionnaire, 61 people felt the sound in their jaw while moving. On the other hand, according to the TMD/DC criterion, the number of people who have crepitus in the right and left jaws is equal. The average age of the patients was 35.92, and 21 were men and 80 were women. According to the questionnaire, 61 people felt the sound in their jaw while moving. On the other hand, according to the TMD/DC criterion, the number of people who have crepitus in the right and left jaws is equal. The low prevalence of crepitation with p=0.734 has a significant relationship with the genotype of people. Conclusion: This study showed that there is a significant relationship between the rs4776783 polymorphism in Galm gene and the occurrence of temporomandibular disorder (TMD), jaw sound and pain in many masticatory muscles such as lateral pterygoid and temporal. Therefore, it can be concluded that TMD has a genetic basis. Keywords: Galactose mutarotase; GALM; Temporomandibular disorder; Polymorphism.

Abstract A 49‐year‐old male was involved in an accident and an abdominal computer tomographic examination revealed papillary renal cell carcinoma of the right kidney. During hospitalization, the patient was infected with COVID‐19. In the following COVID‐19 treatment, a black dot developed on the right side of the head and face. Antifungal therapy and surgical debridement were initiated and gradual improvement was observed.

Abstract Background Sniffer dogs are able to detect certain chemical particles and are suggest to be capable of helping diagnose some medical conditions and complications, such as colorectal cancer, melanoma, bladder cancer, and even critical states such as hypoglycemia in diabetic patients. With the global spread of COVID-19 throughout the world and the need to have a real-time screening of the population, especially in crowded places, this study aimed to investigate the applicability of sniffer dogs to carry out such a task. Methods Firstly, three male and female dogs from German shepherd (Saray), German black (Kuzhi) and Labrador (Marco) breeds had been intensively trained throughout the classical conditioning method for 7 weeks. They were introduced to human specimens obtained from the throat and pharyngeal secretions of participants who were already reported positive or negative for SARS-COV-2 infection be RT-PCR. Each dog underwent the conditioning process for almost 1000 times. In the meantime another similar condition process was conducted on clothes and masks of COVID-19 patient using another three male and female dogs from Labrador (Lexi), Border gypsy (Sami), and Golden retriever (Zhico) breeds. In verification test for the first three dogs, 80 pharyngeal secretion samples consisting of 26 positive and 54 negative samples from different medical centers who underwent RT-PCR test were in a single-blind method. In the second verification test for the other three dogs, masks and clothes of 50 RT-PCR positive and 70 RT-PCR negative cases from different medical center were used. Results In verification test using pharyngeal secretion, the sniffer dogs’ detection capability was associated with a 65% of sensitivity and 89% of specificity and they amanged to identify 17 out of the 26 positive and 48 out of the 54 true negative samples. In the next verification test using patients’ face masks and clothes, 43 out of the 50 positive samples were correctly identified by the dogs. Moreover, out of the 70 negative samples, 65 samples were correctly found to be negative. The sensitivity of this test was as high as 86% and its specificity was 92.9%. In addition, the positive and negative predictive values were 89.6 and 90.3%, respectively. Conclusion Dogs are capable of being trained to identify COVID-19 cases by sniffing their odour, so they can be used as a reliable tool in limited screening.

Opium is an opiate substance with a significant effect on human physiology and behavior. Ancient priests used opium as a powerful healing drug and many medical texts have referred to opium as medication, especially during the nineteenth century. In old days, the medical use of opium was popular and was called "God's medicine". On the other hand, understanding the molecular pathway of opium function within cells is very essential from pathophysiological views and clinical applications. The current literature shows that opium can initialize cell death through activation of apoptotic events, which in turn induces cascade pathways of angiogenesis. In this review article, we attempt to investigate the effects of opium on cell apoptosis and angiogenesis.

Introduction: Tooth enamel is a precious and highly mineralized tissue in the human body. Amelogenesis Imperfecta (AI) is a developmental, evolutionary and hereditary disease presents with the rare abnormal formation of enamel that affects the primary and secondary dentition. The molecular base of the incomplete quinizium together with clinical manifestation suggest that AI may result from mutations in the FAM83H and ENAM genes. In this study, we aimed to evaluate the association between Amelogenesis Imperfecta and mutations in the FAM83H and ENAM genes in 18 Iranian families with AI in dominant and non-syndromic form. Materials and Methods: 18 Iranian families with at least 1 patient with Amelogenesis Imperfecta were included in this case study and were examined for related specific manifestations and also, 10CC of blood was taken from each patient followed by PCR and genome sequence for genetic alterations in FAM83H and ENAM. Genome sequences were analyzed using CLC software and CLC Sequence Viewer was used to compare them with reference sequences in the RefSeq database at the NCBI later were discussed together with clinical manifestations for each patient. Results: All patients showed a mutation in the exon 5 of FAM83H gene in nucleotide rs56148058C/T which converted Serotonin to Aspartin. In two patients carried a mutation in the nucleotide rs546809055A/G that changed Leucine to Phenylalanine. None of patients showed significant alteration in the ENAM gene. Conclusion: This study indicates that FAM83H gene plays an import role in incidence of Amelogenesis Imperfecta in Iran.

Background: Bruxism is a parafunctional disorder. The prevalence of this rhythmic activity of rodent muscles is reported to be about %8. This disease can compromise the life quality of a person’s general performance. The aim of this study is to gather information upon genetic factors, which contribute to the pathogenesis of the disease. Materials and Methods: All related articles published in 1966 onward from google scholar such as ISI, PubMed, Scopus and Ovid within the databases were searched using English keywords ‘Bruxism and Genetics’. 300 articles were found. 252 articles were removed due to content duplication and irrelevance. Results: The review of selected articles finally showed that in addition to other factors such as psychological factors, local factors, systemic factors, etc., the genetic factors also play a significant role in pathogenesis of bruxism. Among the influential genes are rs6313 polymorphism from the 5HT2A gene and rs6313 polymorphism from the HTR2A gene. Conclusion: Evidence suggests that genetic factors play an important role in the pathology and development of bruxism, however the main causing mechanism still largely remains unknown. Keywords: Genetic factors; Bruxism; Article review; Polymorphism.

Background: There are many studies which strongly suggest that the pathophysiology of Temporomandibular joint Disorder (TMD) may also be influenced by genetic conditions. The current study was aimed to evaluate the hypothesis that the polymorphism of estrogen receptor genes, estrogen receptor 1 and 2 (ESR1 and ESR2), and the gene Catechol-O-Methyl-Transferase (COMT) could be Predisposing factor for TMD. Methods: In this case-control study, blood sample were taken from 100 TMD diagnosed patients based on Research Diagnostic Criteria for Temporomandibular Disorders (RDC/TMD) and 103 healthy individuals as the control group. Tetra ARMS-PCR method was used to amplify and identify COMT rs4680, ESR1 rs1643821, and ESR2 rs1676303 gene polymorphism. Results: ESR1 genotype AA and GA showed significantly increase probability (OR= 4.80, OR=2.98, respectively) of TMD. ESR2 T/T homozygosity was associated with decreased risk for TMD (OR=0.41). The relationship between COMT and TMD was not statistically significant (p>00.05). The relationship between the severity of TMD and ESR1 was significant (p=0.003). According to the inheritance pattern the COMT and ESR1 gene, in the dominant pattern can be susceptible to TMD and in ESR2 gene, in the recessive pattern can be protective to TMD. Conclusion: It seems that SNPs of ESR1 rs1643821 has a susceptible role and ESR2 rs1676303 has a protective role against TMD. Also, we add evidences that various genotype of COMT rs4680 were not statistically different between case and control, but allele A in the dominant inherence pattern can be susceptible to TMD. [ABSTRACT FROM AUTHOR]

Introduction: Kidney transplantation is the optimal treatment strategy for some end-stage renal disease (ESRD); however, graft survival and the success of the transplantation depend on several elements, including the genetics of recipients. In this study, we evaluated exon loci variants based on a high-resolution Next Generation Sequencing (NGS) method. Methods: We evaluated whole-exome sequencing (WES) of transplanted kidney recipients in a prospective study. The study involved a total of 10 patients (5 without a history of rejection and 5 with). About five milliliters of blood were collected for DNA extraction, followed by whole-exome sequencing based on molecular inversion probes (MIPs). Results: Sequencing and variant filtering identified nine pathogenic variants in rejecting patients (low survival). Interestingly, in five patients with successful kidney transplantation, we found 86 SNPs in 63 genes 61 were variants of uncertain significance (VUS), 5 were likely pathogenic, and five were likely benign/benign. The only overlap between rejecting and non-rejecting patients was SNPs rs529922492 in rejecting and rs773542127 in non-rejecting patients' MUC4 gene. Conclusions: Nine variants of rs779232502, rs3831942, rs564955632, rs529922492, rs762675930, rs569593251, rs192347509, rs548514380, and rs72648913 have roles in short graft survival. [ABSTRACT FROM AUTHOR]