Biofilm formation, antibiotic-resistance and clonal relatedness among clinical isolates of Acinetobacterbaumannii.

In this work, the antibiotic resistance, biofilm formation capability, and clonal relatedness of 50 A. baumannii isolates collected from three hospitals in Ardabil city, Iran, were evaluated. Antibiotic sensitivity and biofilm formation of isolates were determined by disk diffusion and microtiter-plate methods, respectively. Molecular typing of isolates was also performed using repetitive sequence-based PCR (REP-PCR). The majority of isolates were resistant to cephems, aminoglycosides, and carbapenems, with 80 % classified as multi-drug resistant (MDR). While, only isolates collected from blood and tracheal were resistant to colistin. Additionally, 42 isolates (84 %) had biofilm formation capability. According to rep-PCR results, 34 isolates showed similar banding patterns, while 16 isolates had unique banding patterns. Finally, based on the molecular analysis, there was a direct relationship between biofilm formation and the antibiotic resistance of isolates. In other words, MDR isolates had a higher ability to form biofilm.

Distribution of HPV genotypes in Mashhad, Iran: insights from a 2022-2023 study.

BACKGROUND: Human papillomavirus (HPV), is one of the main causes of cervical cancer and also one of the most common sexually transmitted infections (STIs). HPV is responsible for almost all cases of cervical cancer and plays a principal role in causing other cancers including oropharynx, penis, larynx, oral cavity, anus, vulva, and vagina. The study aims to investigate the prevalence and distribution of HPV genotypes among patients referred to private laboratories in Mashhad, located in the northeast of Iran. METHODS AND MATERIALS: 428 samples including 382 females (89.3%) and 46 males (10.7%) between January 10, 2022, and February 11, 2023, in Mashhad, Iran were evaluated to detect HPV and determine its genotypes. Cervical swabs and urine samples were collected from females and males, respectively. Viral DNA was extracted by using a CedExtra purification kit (cedbio, Iran) and viral genotypes were identified with a High + Low Papillomastrip kit (Operon, Spain). Mann Whitney U test and Chi-square test were accomplished for statistical analysis. RESULT: From the total of 428 participants analyzed, the HPV test result was positive for 129 patients (30.1%) and negative for 299 people (69.9%). Among the participants, 115 female (30.1%) and 14 male (30.4%) were positive for HPV infection. The prevalence of HPV infection among the referring people was about 30%. The most common genotype identified was HPV-6 (10.3%), followed by HPV-16 (8.7%) and HPV-51 (7.7%), the second and third most common genotypes, respectively. Additionally, HPV-39 was detected at a frequency of 6.70%. HPV-11, HPV-61, HPV-91, and HPV-44 with a frequency of 1% were among the least genotypes identified among the patients. CONCLUSION: In line with the results of this study, the prevalence of HPV genotypes in both genders is 30%. The results likely reflect differences in the prevalence of high-risk HPV genotypes, that are less common. Also, HPV-6 and HPV-16 genotypes that are covered by the vaccine had a significant prevalence. On the other hand, with the prevalence of HPV-51 and HPV-39 genotypes in infected people who are not covered by the Gardasil (quadrivalent) vaccine, there is a risk of related cancers in the future.

Anti-inflammatory Activity of Tanshinone-Related Diterpenes from Perovskia artemisioides Roots.

Perovskia artemisioides is a perennial and aromatic plant widely distributed in the Baluchestan region of Iran. Phytochemical analysis of a n-hexane extract of P. artemisioides roots, guided by an analytical approach based on LC-ESI/LTQOrbitrap/MS/MS, yielded six previously undescribed diterpenoid compounds (2, 9-11, 16, and 20), and 19 known diterpenoids, for which the structures were elucidated by 1D and 2D NMR experiments. Some of the isolated compounds showed significant anti-inflammatory activity using J774A.1 macrophage cells stimulated with Escherichia coli lipopolysaccharide. In particular, compounds 6, 8, 17, 18, 20, and 22 significantly inhibited the release of nitric oxide and the expression of related pro-inflammatory enzymes, such as inducible nitric oxide synthase and cycloxygenase-2. Moreover, two compounds that showed the highest activity in reducing nitric oxide release (6 and 18) were tested to evaluate their effects on nitrotyrosine formation and reactive oxygen species release. Both compounds inhibited ROS release and, in particular, compound 6 also inhibited nitrotyrosine formation at all tested concentrations, thus indicating a significant antioxidant potential.

Terpenoid Constituents of Perovskia artemisioides Aerial Parts with Inhibitory Effects on Bacterial Biofilm Growth.

Perovskia artemisioides is a perennial and aromatic plant distributed in the Baluchestan region of Iran. In the present work, an n-hexane extract of P. artemisioides aerial parts showed excellent capabilities to both inhibit the formation of biofilms by different Gram-positive and Gram-negative pathogens and block the cell metabolism within microbial biofilms. To correlate the activity of the extract with the biologically active compounds present, first an analytical approach based on LC-HRMS/MSn was carried out. The metabolite profile obtained guided the isolation of 21 compounds, among which two sesquiterpenes (8 and 9) and one diterpene (10) were found to be new. The antimicrobial activity of the isolated compounds was evaluated by determining how they were able not only to reduce the growth of different Gram-positive and Gram-negative human bacteria and phytopathogens but also to inhibit the formation of biofilms by these bacteria and affect the metabolism of microbial cells present within the biofilms. With the aim of correlating the activity exhibited by the extract with the concentration levels of the constituent compounds, a quantitative determination was carried out by an analytical approach based on LC-ESI/QTrap/MS.

Depression, Anxiety, and Stress Relative to Swallowing Impairment in Persons with Multiple Sclerosis.

Dysphagia and symptoms of depression, anxiety and stress are common in persons with multiple sclerosis (MS). We posited a relationship between dysphagia and increased frequency of psychological symptoms. Therefore, the aim of the present study was to examine associations between symptoms of psychological difficulties, use of emotional suppression and cognitive reappraisal strategies, and dysphagia status in persons with MS. One hundred persons with MS were prospectively assessed in multiple domains of functioning: cognitive, psychological, and dysphagia-related. Participants underwent cognitive screening with the Mini Mental State Examination and completed two psychological inventories: The depression, anxiety and stress scale (DASS)-21 and the Emotion Regulation Questionnaire. Further, they completed the dysphagia in Multiple Sclerosis questionnaire. A speech-language pathologist evaluated persons suspected of having dysphagia with the Mann Assessment of Swallowing Ability. Dysphagia was present in 29 persons with MS, and the sample was split accordingly. The two groups differed at baseline with respect to Expanded Disability Status Scale scores. There were significant between-group differences for mental health symptoms and for use of emotional regulation strategies. Accordingly, multivariate logistic regressions showed that increased symptoms of psychological stress, decreased use of cognitive reappraisal strategies, and increased indicators of emotional suppression independently predicted the presence of dysphagia. There was a clear pattern towards poorer psychological well-being in persons with dysphagia compared to those without. Psychological difficulties may contribute to the manifestation or worsening of dysphagia and should be addressed in treatment planning and future investigations. Therapeutic interventions that promote improvement in mental state alongside swallowing function may be highly beneficial.

Evaluation the ethno-pharmacological studies in Iran during 2004-2016: A systematic review.

Although Iran has a deep history in herbal medicine and great heritage of ancient medical scholars, few efforts have been made to evaluate ethnopharmacological aspects of medicinal plants in this country. In the present study, the authors have reviewed all important literature about the ethnopharmacological investigations on medicinal plants used in the last decade in Iran. All provinces of Iran were categorized according to a phytogeographical division. Information was collected through bibliographic investigations from scientific journals and books. Afterward, the data were analyzed through the construction of specific ecological regions of the country. Fifty-five references reporting medicinal plants in five ecological zones were retrieved. The Irano-Turanian subregion has produced the greatest number of publications in this field among others (47%). Results illustrate that the most reported botanical families were Lamiaceae and Asteraceae (28.57% and 27.73%, respectively). Among various illnesses reported for these plants, gastrointestinal (30.15%), respiratory problems (14.28%), diabetes (11.11%), and cold/flu (11.11%) were the most cited. The most frequently cited medicinal uses were attributed to decoction and infusion preparations. Iran has a rich history of knowledge about phytotherapy and has also a diverse geographical regions, and a plant flora that is a good candidate for drug discovery. Documentation of indigenous knowledge about herbal medicine used by Iranian tribes is vital for the future development of herbal drugs. Ethnopharmacological studies of Iranian folk medicine with quantitative analytical techniques are warranted to find drug candidates, and also to preserve the precious knowledge of the Iranian folk medicine.

Learning representation hierarchies by sharing visual features: a computational investigation of Persian character recognition with unsupervised deep learning.

In humans, efficient recognition of written symbols is thought to rely on a hierarchical processing system, where simple features are progressively combined into more abstract, high-level representations. Here, we present a computational model of Persian character recognition based on deep belief networks, where increasingly more complex visual features emerge in a completely unsupervised manner by fitting a hierarchical generative model to the sensory data. Crucially, high-level internal representations emerging from unsupervised deep learning can be easily read out by a linear classifier, achieving state-of-the-art recognition accuracy. Furthermore, we tested the hypothesis that handwritten digits and letters share many common visual features: A generative model that captures the statistical structure of the letters distribution should therefore also support the recognition of written digits. To this aim, deep networks trained on Persian letters were used to build high-level representations of Persian digits, which were indeed read out with high accuracy. Our simulations show that complex visual features, such as those mediating the identification of Persian symbols, can emerge from unsupervised learning in multilayered neural networks and can support knowledge transfer across related domains.

Deep Learning and Developmental Learning: Emergence of Fine-to-Coarse Conceptual Categories at Layers of Deep Belief Network.

In this paper, I investigate conceptual categories derived from developmental processing in a deep neural network. The similarity matrices of deep representation at each layer of neural network are computed and compared with their raw representation. While the clusters generated by raw representation stand at the basic level of abstraction, conceptual categories obtained from deep representation shows a bottom-up transition procedure. Results demonstrate a developmental course of learning from specific to general level of abstraction through learned layers of representations in a deep belief network.

Report: Bioconversion of agriculture waste to lysine with UV mutated strain of brevibacterium flavum and its biological evaluation in broiler chicks.

Lysine executes imperative structural and functional roles in body and its supplementation in diet beneficial to prevent the escalating threat of protein deficiency. The physical mutagenesis offers new fascinating avenues of research for overproduction of lysine through surplus carbohydrate containing agriculture waste especially in developing countries. The current study was aimed to investigate the potential of UV mutated strain of Brevibacterium flavum at 254 nm for lysine production. The physical and nutritional parameters were optimized and maximum lysine production was observed with molasses (4% substrate water ratio). Moreover, supplementation of culture medium with metal cations (i.e. 0.4% CaSO4, 0.3% NaCl, 0.3% KH2PO4, 0.4% MgSO4, and 0.2% (NH4) 2SO4w/v) together with 0.75% v/v corn steep liquor significantly enhanced the lysine production up to 26.71 ± 0.31 g/L. Though, concentrations of urea, ammonium nitrate and yeast sludge did not exhibit any profound effect on lysine production. Biological evaluation of lysine enriched biomass in terms of weight gain and feed conversion ratio reflected non-significant difference for experimental and control (+ve) groups. Conclusively, lysine produced in the form of biomass was compatible to market lysine in its effectiveness and have potential to utilize at commercial scale.

Risk factors and long-term outcomes of oropharyngeal dysphagia in persons with multiple sclerosis: a systematic review protocol.

BACKGROUND: Oropharyngeal dysphagia (OPD) can be functionally debilitating in persons with multiple sclerosis (pwMS). OPD induces alterations in safety and efficiency of food and/or liquid ingestion and may incur negative sequalae such as aspiration pneumonia or malnutrition/dehydration. Early detection and timely management of OPD in pwMS could prevent such complications and reduce mortality rates. Identifying risk factors of OPD relative to its onset or repeat manifestation will enable the development of care pathways that target early assessment and sustained management. The aims of this systematic review are to compile, evaluate, and summarize the existing literature reporting potential risk factors and associated long-term outcomes (e.g., aspiration pneumonia, malnutrition, dehydration, and/or death) of OPD in pwMS. METHODS: We will undertake a systematic review to identify studies that describe patterns and complications of OPD in pwMS. Variables of interest include predictors of OPD along with long-term outcomes. We will search MEDLINE, Embase, CINAHL, AMED, the Cochrane Library, Web of Science, and Scopus. We will consider studies for inclusion if they involve at least 30 adult participants with MS and report risk factors for OPD and/or its long-term outcomes. Studies will be excluded if they refer to esophageal or oropharyngeal dysphagia induced by causes other than multiple sclerosis. Study selection and data extraction will be performed by two independent assessors for abstract and full article review. We will present study characteristics in tables and document research findings for dysphagia-related risk factors or its complications via a narrative format or meta-analysis if warranted (e.g., mean difference and/or risk ratio measurements). All included studies will undergo risk-of-bias assessment conducted independently by two authors with consensus on quality ratings. DISCUSSION: There is a lacune for systematic reviews involving risk factors and long-term outcomes of dysphagia in pwMS to date. Our systematic review will provide the means to develop accurate and efficient management protocols for careful monitoring and evaluation of dysphagia in pwMS. The results of this systematic review will be published in a peer-reviewed journal. SYSTEMATIC REVIEW REGISTRATION: PROSPERO CRD42022340625.

Iranian psoriasis registry: Research protocol and preliminary results of a pilot study.

BACKGROUND: Psoriasis as a common cutaneous inflammatory disease affect many aspects of patients' life. Disease registries render it possible to collect valuable data regarding a disease prevalence and burden as well as long-term observations concerning possible therapeutic regimens. METHODS: This registry was designed for the ongoing systematic data collection on patients with psoriasis at two referral dermatology centers in Iran. The pilot phase of the registry was used to identify possible obstacles in the application and execution of systematic registration. RESULTS: A total of 281 patients were registered with the mean age of 42.02 years. The disease duration was 12.06 ± 10.90 years with the variety of clinical presentations. There was no significant difference between males and females in the age of disease onset (p = 0.53). Notably, 167 patients had children. Among them, 13 had children with psoriasis. The gender of the affected parent did not affect the possibility of psoriasis transmission to the child, and no significant difference was seen between the two sexes (P = 0.569). Regarding treatment, 99.4% of patients (n = 280) had used topical agents, 52.3% (n = 147) biologics, and 60.9% (n = 171) nonbiologic medications. CONCLUSION: Clinical trials report the efficacy and safety data regarding limited study populations in a restricted time window, and the results may differ from the general population. This highlights the importance of registry-based studies for collecting and analyzing longitudinal information. In terms of long-term disease complications such as malignancies, cardiovascular events, and serious adverse events, registry-based studies will help clinicians better recognize and manage each disease.

SOX2 Overlapping Transcript (SOX2-OT) Enhances the Lung Cancer Malignancy Through Interaction with miR-194-5p/SOX5 Axis.

Background: Lung cancer is one of the most common types of cancer and a leading cause of cancer-related deaths worldwide. Therefore, it is useful to know the biomarkers involved in the malignancy of lung cancer. Objectives: This study aimed to show that SOX2-OT as a long non-coding RNA (IncRNA) regulates gene expression via the SOX2-OT/miR-194-5p/SOX5 axis molecular pathway in lung cancer. Materials and Methods: A549 cells transfected with siRNA-SOX2-OT and the expression of SOX2-OT and miR-194-5p genes were analyzed by real-time PCR before and after transfection. In addition, the expression of the B-catenin, MMP9, phosphorylated and activated STAT3 (p-STAT3), SOX5, and VEGF proteins before and after transfection was investigated by Western blotting. Results: After using siRNA-SOX2-OT, an increase in the expression of miR-194-5p and a decrease in the expression of B-catenin, SOX5, p-STAT3 activated STAT3, VEGF, and MMP9 proteins was observed. Conclusions: According to the results of the present study, an increase in SOX2-OT in lung cancer seems to stimulate the expression of beta-catenin, SOX5, MMP9, and VEGF thus support the malignancy of lung cancer cells.

Recent reports in the biggest herbal genus, Astragalus, in Iran; with a special viewpoint on tragacanth gum production.

This comprehensive review was carried out to integrate all the data published in the electronic databases (Scopus, etc.) over the past two decades about the distribution, phytochemistry, ethnopharmacology, and pharmacology of Astragalus L. Although Astragalus is one of the largest genera of flowering plants in Iran, limited phytochemical screening of this genus has been reported. Cycloartane triterpene glycosides, labdane diterpenoids, flavonoids, and polysaccharides are the major identified compounds. Pharmacological studies revealed significant properties such as anti-inflammatory, anticancer, antidiabetic, etc. Moreover, ethnopharmacological studies of Astragalus sp. showed that this genus is used for gastrointestinal, fractures, joint pains, and skin problems in different localities of Iran. Tragacanth gum, as the main product of some Astragalus sp. with economic value, shows proper biological activities and uses as an emulsifier in food industries. This review might be helpful for researchers to find new chemical entities responsible for its claimed traditional uses and food supplements.

Long non-coding RNA SOX2-OT enhances cancer biological traits via sponging to tumor suppressor miR-122-3p and miR-194-5p in non-small cell lung carcinoma.

The oncogenic role of long non-coding RNA SOX2 overlapping transcript (SOX2-OT) has been demonstrated as a miRNA decay system that sponges tumor suppressor miRNA, including miR-122-3p in glioblastoma and miR-194-5p in glioblastoma, gastric, and colorectal cancers. However, the molecular function of SOX2-OT remains unknown in most cancers, including lung cancer. In the current study, we aimed to evaluate the downstream regulatory function of SOX2-OT in A549 and Calu-3 lung cancer cell lines. We knocked down SOX2-OT expression using an RNA interference system, which significantly decreased expression in A549 and Calu-3 cells. The expression of down-regulating miRNAs (miR-122-3p and miR-194-5p) was evaluated, revealing increased expression of miR-122-3p and miR-194-5p. Additionally, the expression of miRNAs downstream mRNA, including FOXO1 (Forkhead Box O1) and FOXA1 (Forkhead Box O1), changed. Recently, critical roles of FOXO1 and FOXA1 proteins in pathways involved in proliferation, metastasis and apoptosis have been demonstrated. Downstream changes in cellular traits were assessed using MTT, flow cytometry, metastasis and apoptosis assays. These assessments confirmed that the biological behaviors of lung cancer cells were influenced after SOX2-OT knockdown. In summary, the present study highlights the oncogenic role of SOX2-OT through the regulation of miR-122-3p/FOXO1 and miR-194-5p/FOXA1 pathways.

Ethnopharmacological study of medicinal plants in Sarvabad, Kurdistan province, Iran.

ETHNOPHARMACOLOGICAL RELEVANCE: Traditional medicine has a long history and plays an important role in the Kurdish community in Sarvabad county, Kurdistan province, Iran. Despite the great diversity of medicinal plants, cultural history, and variety of herbal medicine uses among Kurdish tribes, very few cohesive ethnopharmacological studies of this unique region are available in the scientific literature. Our study tried to gather medicinal plant species and document the associated indigenous knowledge of the ethnic groups in the Sarvabad district for the first time. MATERIALS AND METHODS: Ethnobotanical data were collected from 92 local informants through semi-structured questionnaires, open interviews, and field surveys during a period of two years (2018-2020). The statistical analysis included use reports (UR) for each species, and informant consensus factor (FIC) to evaluate the data. RESULTS: In the present study a total of 156 plant species belonging to 58 botanical families, were recorded for the treatment of 16 diseases categories. The most represented families were Lamiaceae, followed by Asteraceae, and Apiaceae. The most frequently cited plant species with the highest use report (UR) were Pistacia atlantica (161), Hymenocrater longiflorus (128), Melissa officinalis (124), Cyperus rotundus (114), Thymus transcaspicus (112), and Quercus brantii (109). Psychological (ICF = 0.96), musculoskeletal (ICF = 0.94), and digestive (ICF = 0.93), followed by respiratory problems (ICF = 0.92) showed the highest informant consensus factors among all ailment categories. Most herbal remedies were consumed as decoction. Leaves (28.5%) were the most widely used plant parts, followed by flowers (18.7%), aerial parts (14.5%), seeds (13.2%), and terrestrial parts (8.41%). Some interesting new medicinal uses for native and common species were reported. Species such as Cyperus rotundus, Hymenocrater longiflorus, Anthriscus nemorosa, Pistacia atlantica and Quercus brantii would be interesting targets for drug discovery and are suggested for further investigations. CONCLUSION: The plant use reports, and quantitative data analyzed demonstrate that the relative importance of plant species and shared knowledge of herbal therapies among Kurdish communities of the Sarvabad county is still rich. A systematic study and evaluation of the biological activity of highly consumed plants, could identify the possible mechanism of action.

A review of the phytochemistry, ethnopharmacology and biological activities of Teucrium genus (Germander).

Teucrium L (Lamiaceae) is mainly distributed in the Mediterranean area. A comprehensive survey in the electronic databases (during 2000-2020 years) with keywords of 'Teucrium' and 'Germander' showed that chemical analyses are available for 27 species, with sesquiterpenoids, iridoids, di and triterpenoids, and phenolic compounds as identified structures. The neo-clerodane diterpenoids as potential chemotaxonomic markers were the main compounds of this genus. As a result, Italy and Turkey have good attempts at phytochemical analysis. The pharmacological activities of different species including antioxidant, cytotoxic activity, antidiabetic, antimicrobial, anti-inflammatory and anti-insect have been summarized. Teucrium polium and Teucrium chamaedrys mainly have been used in digestive problems and diabetes in traditional medicine. Evidence-based clinical trials are needed to confirm the therapeutic properties of this genus. As well to the popularity of Asian and Anatolian species as ingredients in contemporary medicines and products, further research is required in comparison to European species.

Insecticidal activity of the essential oil of Perovskia artemisioides Boiss.

This work reports the phytochemical profile and insecticidal properties of Perovskia artemisioides Boiss essential oil (PAEO) collected in Baluchestan, Iran. Totally, twenty-six substances were identified with 1,8-cineole (25.81%), geranyl acetate (13.00%) and linalool (10.21%) as dominant chemical metabolites by GC-MS analysis. PAEO possessed fumigant toxicity against various growth stages of Phthorimaea operculella. P. operculella adults showed considerable sensitivity (LC50 = 0.58 µL/L air) in comparison to eggs (LC50 = 5.87 µL/L air) and neonate larvae (LC50 = 1.23 µL/L air). Finally, molecular docking of major components of PAEO was performed against detoxification enzymes, including cytochrome P450 and glutathione S-transferase activities. Humulene, ß-caryophyllene, and α-cadinol exhibited the most interactions with the P450 and GST. It can be concluded that PAEO has the potential for development into natural insecticides for the control of storage pests.

Chaperones Promote Remarkable Solubilization of Salmonella enterica serovar Enteritidis Flagellin Expressed in Escherichia coli.

BACKGROUND: Flagellin of Salmonella enterica serovar Enteritidis (SEF) stimulates immune responses to both itself and coapplied antigens. It is therefore used in vaccine development and immunotherapy. Removal of pathogenic S. enterica ser. Enteritidis from SEF production process is advantageous due to the process safety improvement. The protein solubility analysis using SDS-PAGE indicated that 53.49% of SEF expressed in Escherichia coli formed inclusion bodies. However, the protein recovery from inclusion bodies requires a complex process with a low yield. OBJECTIVE: We thus aim to study possibility of enhancing SEF expression in E. coli in soluble form using chemical and molecular chaperones. METHODS: Chemical chaperones including arginine, sorbitol, trehalose, sodium chloride and benzyl alcohol were used as cultivation medium additives during SEF expression. SEF solubilization by coexpression of molecular chaperones DnaK, DnaJ, and GrpE was also investigated. RESULTS: All of the chemical chaperones were effective in improving SEF solubility. However, sorbitol showed the most profound effect. SEF solubilization by molecular chaperones was slightly better than that using sorbitol and this approach enhanced noticeably SEF soluble concentration and SEF solubility percentage to almost two folds and 96.37% respectively. Results of limited proteolysis assay and native PAGE indicated similar conformational states and proper folding for SEF obtained without using chaperones and for those obtained using sorbitol and the molecular chaperones. However, the molecular chaperones based system was less costly than the sorbitol based system. CONCLUSION: The coexpression of molecular chaperones was then considered as the most appropriate approach for soluble SEF production. Therefore, SEF production for medical purposes is expected to be facilitated.

A Rare Mutation in the MARVELD2 Gene Can Cause Nonsyndromic Hearing Loss.

The MARVELD2 gene which is located on the 5q13.2 may cause nonsyndromic hearing loss (NSHL) with autosomal recessive inherited pattern. So far c.1331+1G>A (IVS4+1G>A); NM_001038603.3, variant in deafness, has only reported previously in one Pakistani family in 2008 and it is reported for the first time in Iran and second time in the world. The case is a 21-year-old Iranian woman who has NSHL referred for genetic consultation, and her parents had a consanguineous marriage. To study the responsible genes for the mentioned disorder, whole exome sequencing (WES) was performed for the case. The result of WES analysis revealed a transition at the splice donor variant site of the MARVELD2 gene. The NGS result was confirmed by Sanger sequencing.

Evaluating the effect of siRNA on SOX2OT expression in the human neuron-committed teratocarcinoma NT2 cell line.

Non-coding RNA elongated (lncRNAs) have recently attracted as molecules that regulate gene expression of the pluripotent properties (pluripotency) of stem cells. Recently our colleagues examined the role of one of these RNAs called SOX2OT in esophageal squamous cell carcinoma, and found a concomitant increase in its expression with some regulatory genes of cell proliferation. In the present study, using the design of suitable primers from SOX2OT gene, we investigated the effect of siRNA on expression of SOX2OT.