Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 20 de 43
Filter
1.
Oxf Med Case Reports ; 2024(5): omae039, 2024 May.
Article in English | MEDLINE | ID: mdl-38784781

ABSTRACT

Gastrointestinal stromal tumors (GISTs) are the most common type of gastrointestinal mesenchymal tumors. The most common site for developing these neoplasms is the stomach and small intestine. In contrast, anorectal GISTs are very rare. Population-based studies have shown an increased risk of colorectal cancers (CRC) in patients with Crohn's disease (CD). As in sporadic CRC, adenocarcinomas are the most commonly observed tumor. Accordingly, it is expected that rectal mass in CD patients to be an adenocarcinoma. Some reports have presented CD cases with GISTs along the gastrointestinal tract; however, to the best of our knowledge, a rectal GIST has not been reported in CD. Herein, we report a 41-year-old woman with CD who presented with 8 weeks of constipation and was diagnosed with rectal GIST and briefly review existing reports regarding GIST in IBD.

2.
J Tehran Heart Cent ; 18(3): 154-169, 2023 Jul.
Article in English | MEDLINE | ID: mdl-38146412

ABSTRACT

Background: Many studies have evaluated thromboembolic events in COVID-19 patients, and most of them have reported a high estimation of the prevalence of such events. The present study sought to evaluate the prevalence of thromboembolic events in patients with COVID-19. Methods: This study is a systematic review with meta-analysis that investigated thromboembolic events in patients with COVID-19 from the start of the pandemic to August 31, 2021. The 4 main databases for collecting articles were Medline, Scopus, Google Scholar, and Web of Science. Deep vein thrombosis, pulmonary embolism, arterial thrombosis, and the overall rate of thromboembolic events were considered primary outcomes. Results: In a total of 63 studies (104 920 patients with COVID-19), the overall thrombosis rate was 21% (95% CI, 18% to 25%), the rate of deep vein thrombosis was 20% (95% Cl, 16% to 25%), the rate of pulmonary embolism was 8% (95% Cl, 6% to 10%), and the rate of arterial thrombosis was 5% (95% Cl, 3% to 7%). The prevalence of all primary outcomes in critically ill patients admitted to the intensive care unit (ICU) was significantly higher (P<0.05). In older patients, the prevalence of overall thrombosis, pulmonary embolism, or deep vein thrombosis was significantly higher (P<0.05). Conclusion: This study showed that COVID-19 increases the risk of thromboembolic events, especially in elderly and critically ill patients admitted to the ICU. Therefore, more strategies are needed to prevent thromboembolic events in patients with COVID-19, especially in ICU-admitted and elderly patients.

3.
Clin Case Rep ; 11(9): e7883, 2023 Sep.
Article in English | MEDLINE | ID: mdl-37675414

ABSTRACT

Key Clinical Message: This case emphasizes the significance of cardiac amyloidosis as a potential diagnosis in individuals manifesting with lesion-free pruritus and normal liver tests. Abstract: Amyloidosis is a complex disorder in which misfolded proteins accumulate in various organs of the body. Cardiac amyloidosis (CA) can lead to heart failure, cardiac arrhythmia, sudden cardiac death, and deposition of proteins in coronary arteries. Diagnosing CA can be difficult, as the cardiac manifestations of amyloidosis can be similar to more prevalent etiologies. In addition, the accumulation of proteins in soft tissues, including the skin, can cause pruritus. In this paper, we present a 70-year-old man with generalized pruritus and no skin lesions, later diagnosed as CA after detecting ascites fluid. This case underscores the importance of considering amyloidosis in patients presenting with nonspecific symptoms, particularly those affecting the skin, and highlights the need for increased awareness of this disease among clinicians.

4.
PDA J Pharm Sci Technol ; 77(6): 498-513, 2023 Dec 07.
Article in English | MEDLINE | ID: mdl-37580128

ABSTRACT

In this article, we demonstrate a rapid sterility testing method for non-filterable cell-based preparations and its in-process control media/buffers. The selected rapid sterility test (RST) in this work is based on the ScanRDI® system, which detects fluorescently labeled microorganisms with solid-phase cytometry. ScanRDI® has been chosen due to its sensitivity for detecting viable microorganisms down to one microbial cell with a shorter time to detection compared with the compendial sterility test (CST) method. The RST was validated for a CAR-T cell-therapy product with 4 days of time to detection (TTD) and evaluated for in-process control of media/buffers with real-time detection method success according to USP <1223>, Ph. Eur. 5.1.6, and PDA Technical Report No. 33. The validation parameters included limit of detection and equivalence in routine operations, specificity, robustness, ruggedness, and repeatability. For the validation, a combination of pharmacopoeial ATCC strains as well as in-house isolates were used. In addition, the evaluation study of this RST for in-process control of media/buffers was assessed by performing the limit of detection and equivalence with four representative microorganisms. Where applicable, results were statistically evaluated to demonstrate equivalence and no significant difference of the rapid method as compared with the CST method have been detected. All acceptance criteria have been met, and the solid-phase cytometry technology was successfully validated as an alternative sterility test for cell-based preparations and for its in-process control of media/buffer.


Subject(s)
Infertility , Humans , Culture Media , Technology
5.
3 Biotech ; 13(7): 222, 2023 Jul.
Article in English | MEDLINE | ID: mdl-37275769

ABSTRACT

To treat illness, people are increasingly turning to natural foods rather than pharmaceuticals. Herbal extracts with antioxidant and anti-diabetic properties could be a good alternative for treating diabetes. The purpose of this study was to look into the effects of ethanol extraction on the Morphology of liver cells and hyperglycemia in rats of Allium saralicum RM Fritsch nanocapsules based on chitosan incorporated with yogurt. In this experimental study, 32 adult Wistar rats were randomly selected. The effect of Nano extraction on hypoglycemia was assessed using blood glucose levels three and fifteen days after a streptozotocin intraperitoneal (60 mg/kg) injection, as well as hepatocyte count and liver tissue morphology. The average size of the chitosan nanoparticles was determined to be 86 nm. After comparing the blood sugar levels of the A. saralicum nanocapsules groups to the untreated diabetes group, a significant decrease was constructed to observe hyperglycemia. Because of increased effective absorption in the intestine, nanocapsules incorporated into yogurt were able to reduce hyperglycemia in diabetic rats. As a result, a new yogurt formulation containing A. saralicum nanocapsules extract is recommended for diabetic patients.

6.
Clin Case Rep ; 11(6): e7491, 2023 Jun.
Article in English | MEDLINE | ID: mdl-37305859

ABSTRACT

Although one of the most important differential diagnoses of cardiac masses in cancer patients is metastasis from the underlying tumor, it may also be caused by benign etiologies. In this article, we describe cardiac calcified amorphous tumor, which is one of the benign causes of cardiac masses, in a patient with colon cancer.

7.
Egypt Heart J ; 75(1): 28, 2023 Apr 15.
Article in English | MEDLINE | ID: mdl-37060533

ABSTRACT

BACKGROUND: ST-segment elevation myocardial infarction (STEMI) is usually caused by a rupture in the atherosclerotic plaque, followed by platelet aggregation which ultimately leads to acute coronary artery occlusion. So far, few studies have investigated the effect of maintenance dose of Eptifibatide (glycoprotein IIb/IIIa inhibitor) in STEMI patients who underwent primary percutaneous coronary intervention (PPCI). Therefore, in this study, we investigated the effect of maintenance dose of Eptifibatide in patients with STEMI who underwent PPCI. 264 patients who had acute chest pain suggestive of STEMI were entered in the study. All patients received the same dose of bolus dose of Eptifibatide in the cardiac catheterization laboratory. Then the patients were randomly divided into two groups, one group (n = 147) received a maintenance dose of intravenous Eptifibatide (infusion of 2 µg/kg/min) and the other group (n = 117) did not receive this treatment. Standard medical treatment of STEMI after PPCI was performed based on guidelines and the same in both groups. All patients were evaluated 1, 2, and 3 months after the start of treatment in terms of predicted outcomes. RESULTS: The occurrence of 3-month major adverse cardiovascular events (MACE) between the case and control groups did not have a statistically significant difference (28.6% versus 35.0%; P value: 0.286). Also, investigations showed that the rate of re-infarction (P value: 0.024) and target lesion revascularization (P value: 0.003) was significantly lower in the group that received Eptifibatide infusion. CONCLUSIONS: Eptifibatide maintenance dose infusion in patients who undergo PPCI in the context of STEMI, does not significantly reduce MACE, although it does significantly reduce re-infarction and target lesion revascularization. It also does not increase the risk of bleeding and cerebrovascular events.

8.
Article in English | MEDLINE | ID: mdl-37100273

ABSTRACT

Cannabidiol (CBD) is a potential treatment to decrease the rewarding properties of psychostimulants. However, the exact mechanism and distinct neuroanatomical areas responsible for the CBD's effects remain unclear. Indicatively, the D1-like dopamine receptors (D1R) in the hippocampus (HIP) are essential for expressing and acquiring drug-associated conditioned place preference (CPP). Therefore, given that involving D1Rs in reward-related behaviors and the encouraging results of CBD in attenuating the psychostimulant's rewarding effects, the present study sought to investigate the role of D1Rs of the hippocampal dentate gyrus (DG) in the inhibitory effects of CBD on the acquisition and expression of METH-induced CPP. To this end, over a 5-day conditioning period by METH (1 mg/kg; sc), different groups of rats were given intra-DG SCH23390 (0.25, 1, or 4 µg/0.5 µl, saline) as a D1Rs antagonist before ICV administration of CBD (10 µg/5 µl, DMSO12%). In addition, a different set of animals, after the conditioning period, received a single dose of SCH23390 (0.25, 1, or 4 µg/0.5 µl) before CBD (50 µg/5 µl) administration on the expression day. The results showed that SCH23390 (1 and 4 µg) significantly reduced the suppressive effects of CBD on the acquisition of METH place preference (P < 0.05 and P < 0.001, respectively). Furthermore, the highest dose of SCH23390 (4 µg) in the expression phase remarkably abolished the preventive effects of CBD on the expression of METH-seeking behavior (P < 0.001). In conclusion, the current study revealed that CBD's inhibitory effect on rewarding properties of METH partially acts through D1Rs in the DG area of the HIP.


Subject(s)
Cannabidiol , Methamphetamine , Rats , Animals , Methamphetamine/pharmacology , Cannabidiol/pharmacology , Receptors, Dopamine D1/metabolism , Rats, Wistar , Hippocampus/metabolism , Reward
9.
Gastroenterol Hepatol Bed Bench ; 15(3): 204-218, 2022.
Article in English | MEDLINE | ID: mdl-36311963

ABSTRACT

Portal hypertensive gastropathy (PHG) and gastric antral vascular ectasia (GAVE) are two distinct entities that are frequently mistaken with each other, because they present with similar manifestations. This issue may cause catastrophic outcomes, as each one of them has a unique pathophysiology, thereby making their management approaches completely different. There are clinical clues that help physicians distinguish these two. Direct vision via upper endoscopy is often mandatory to establish the diagnosis, and sometimes biopsy is required. In this review, we sought to discuss different aspects of both conditions and highlight clinical evidence that may help in identifying and managing the disease appropriately.

10.
Health Sci Rep ; 5(5): e829, 2022 Sep.
Article in English | MEDLINE | ID: mdl-36172298

ABSTRACT

Background and Aims: Bowel preparation affects the quality of colonoscopy. Reaching the optimal preparation has been a challenge for years. Polyethylene glycol (PEG) is the sole FDA-approved substance for this purpose. However, patients find it unpleasant and often complain about its adverse effects. In this study, we aimed to reduce these complaints by lowering the amount of PEG and adding senna which is an herbal stimulant laxative. Methods: Four hundred and eighty-six patients were admitted for colonoscopy. Finally, 382 patients were enrolled in the study and we divided them into two groups; 186 patients were placed in which conventional high volume PEG-alone regimen was consumed and 196 patients in which low volume PEG plus senna regimen was offered. The quality of colon preparation was compared between the two groups by independent two samples t-test (or its corresponding nonparametric test), Fisher's exact, or χ 2 test in SPSS software version 22. Results: The colon preparation quality was equally efficient in the two groups as 69.36% in the high volume PEG group and 71.94% in PEG plus senna group had adequate bowel preparation (p = 0.58). Adverse effects, like nausea, bloating, headache, and sleeplessness were significantly less in the low volume PEG plus senna group. Conclusion: Besides the fact that bowel preparation by low volume PEG plus senna combination was noninferior to the conventional high volume PEG-alone regimen, the side effects were much less common with the low volume PEG plus senna regimen.

11.
Photochem Photobiol ; 98(6): 1471-1475, 2022 11.
Article in English | MEDLINE | ID: mdl-35546299

ABSTRACT

This study aimed to evaluate the effect of photobiomodulation therapy (PBMT) with 915 nm wavelength on pain reduction during maxillary incisors' local infiltration in a randomized clinical trial study. A prospective triple-blinded split-mouth clinical trial was designed to assess pain perception during needle insertion and local anesthetic injection in 32 healthy patients required operative caries management on contralateral maxillary incisors. After laser treatment (915 nm, power of 1.5 W, duty cycle of 60% and energy density of 72 J cm<sup>-2</sup> ) in active group and no irradiation in sham group, the injection was performed. Patients' perception of pain was immediately assessed using numerical rating scale (NRS) for pain. Washout period between two appointments was one week. Wilcoxon signed-rank and Pearson correlation statistical analyses were used to assess the comparison of pain score between two appointments and the effect of anxiety level of previous dental injections. The mean scores of pain for the active laser and sham laser groups were 2.5 ± 2.19 and 4.34 ± 2.52, respectively, with a statistically significant higher NRS in the sham laser group (P ˂ 0.05). In this study's condition, diode PBMT reduced pain during infiltration on maxillary incisors. Anxiety experience of dental injection had no significant effect on pain perception scale (P ˃ 0.05).


Subject(s)
Anesthesia, Local , Low-Level Light Therapy , Humans , Incisor , Lasers, Semiconductor/therapeutic use , Pain/etiology , Pain/prevention & control , Pain Perception , Prospective Studies
12.
Res Psychother ; 25(1)2022 May 09.
Article in English | MEDLINE | ID: mdl-35532025

ABSTRACT

In response to the high rate of comorbidity among different types of emotional disorders in children, Transdiagnostic Unified Protocol of Emotional disorder in children (UP-C) was developed to address common underlying mechanisms in the development and maintenance of emotional disorders using empirically supported cognitive and behavioural strategies. Although, studies supported the effectiveness of this protocol in the treatment of wide range of emotional disorders, further studies are needed to examine its effect on transdiagnostic factors. The present study aimed to investigate the efficacy of the UP-C on negative affect, anxiety sensitivity and perceived control in children with emotional disorders. During this randomized controlled trial, 34 children aged 7 to 13 with emotional disorders were randomly assigned to treatment (n=18) and control (n=16) groups. The treatment group and their parents received 15 sessions of UP-C. Negative Affect Schedule for Children (PANASNA- C), Children's Anxiety Sensitivity Index (CASI), Anxiety Control Questionnaire-Children (ACQ-C) were carried out in all phases (pre-treatment, post-treatment, 3 and 8 months follow- up). The results showed that following UP-C, negative affect (hedges'g=2.01) and anxiety sensitivity (hedges'g=1.05) were significantly reduced, and perceived control (hedges'g= -2.36) was significantly improved. The results remained relatively constant during the follow-ups. Findings provide evidence that the UP-C has significant effect on negative affect, anxiety sensitivity and perceived control as roots of emotional disorders.

13.
Dent Res J (Isfahan) ; 19: 26, 2022.
Article in English | MEDLINE | ID: mdl-35432795

ABSTRACT

Background: During the first experiences of clinical treatment, dental students face various challenges. The purpose of the study is to standardize the questionnaire as a suitable tool for quantitative and qualitative evaluation of psychosocial impact, stress levels, and learning effect of dental students during the transition from preclinical to clinical education in Persian. Materials and Methods: In this cross-sectional study a questionnaire including three areas of psychosocial impact, perceived stress, and learning effect was systematically translated. In the group of experts, face validity was examined. Then, the content validity ratio (CVR) and the content validity index (CVI) were determined. The reliability of the questionnaire was determined by the test-retest method and the Cohen's Kappa coefficient. In a cross-sectional study, the psychosocial impact, stress levels, and learning effect of all students newly admitted to the endodontic, prosthetics, periodontics, and restorative dentistry departments of Shahid Beheshti Dental School (128 people) were measured. Mann-Whitney and Spearman-Rho were used for statistical analysis (P = 0.05). Results: During the CVR and CVI evaluation, 12 statements were removed from the questionnaire, and one statement was changed. All valid statements of the questionnaire were considered reliable. The initial questionnaire was finally developed in the form of 27 items. Interest in clinical treatment and collaboration between students and faculty had the greatest psychosocial effects. The highest level of stress among students was seen in the endodontic ward (mean = 3.8). The greatest effect of learning was seen in different sections in infection control (mean >4). Conclusion: This study provided a standardized tool in Persian to evaluate the psychosocial impacts, perceived stress, and learning effect of dental students during the transition to clinical education and focused on the first clinical treatment experiences. One important psychosocial factor was collegiality between teachers and students. The ability to communicate well with the patient is thought to reduce stress.

15.
Rev Med Virol ; 32(4): e2325, 2022 07.
Article in English | MEDLINE | ID: mdl-35037732

ABSTRACT

Cancer immunotherapy has made improvements due to the advances in chimaeric antigen receptor (CAR) T cell development, offering a promising treatment option for patients who have failed to respond to traditional treatments. In light of the successful use of adoptive CAR T cell therapy for cancer, researchers have been inspired to develop CARs for the treatment of other diseases beyond cancers such as viral infectious diseases. Nonetheless, various obstacles limit the efficacy of CAR T cell therapies and prevent their widespread usage. Severe toxicities, poor in vivo persistence, antigen escape, and heterogeneity, as well as off-target effect, are key challenges that must all be addressed to broaden the application of CAR T cells to a wider spectrum of diseases. The key advances in CAR T cell treatment for cancer and viral infections are reviewed in this article. We will also discuss revolutionary CAR T cell products developed to improve and enhance the therapeutic advantages of these treatments.


Subject(s)
Communicable Diseases , Immunotherapy, Adoptive , Neoplasms , Receptors, Chimeric Antigen , Communicable Diseases/therapy , Humans , Neoplasms/etiology , Neoplasms/therapy , Receptors, Chimeric Antigen/genetics , T-Lymphocytes
16.
J Drug Target ; 30(1): 108-117, 2022 01.
Article in English | MEDLINE | ID: mdl-34116599

ABSTRACT

The purpose of this research was to enhance the transdermal delivery of diclofenac sodium niosomal formulations. To characterise the obtained niosomes, SEM, XRPD, DSC and ATR-FTIR were employed. The size of the niosomes increased from 158.00 ± 6.17 to 400.87 ± 4.99 nm when cholesterol was incorporated into the formulations. It was observed that the zeta potential of niofenac varies from -25.40 ± 1.352 to -43.13 ± 1.171 mV when the cholesterol percentage decreased from 2% to 0.2%. The higher entrapment efficiency percentage (63.70 ± 0.18%) was obtained for the formulations with larger particle sizes and higher cholesterol content. The optimised niofenac formulation showed a controlled release fashion where 61.71 ± 0.59% of the drug released within 24 h. The results showed that the value of permeated diclofenac sodium through the skin layers was higher for the niofenac gel formulation (242.3 ± 31.11 µg/cm2) compared to simple gel formulation (127.40 ± 27.80 µg/cm2). Besides, niofenac formulation outperformed the anti-inflammatory activities in the formalin test compared to the control and diclofenac simple gel group. The licking time was significantly lower in both early (40.2 ± 7.3 s) and late stages (432.4 ± 31.7 s) for niofenac compared to conventional formulation (early stage 130.4 ± 8.73 s and late stage 660.6 ± 123.73 s). This study indicates that niosomal formulations can improve drug therapeutic effects by increasing drug delivery to specific sites.


Subject(s)
Diclofenac , Liposomes , Administration, Cutaneous , Drug Delivery Systems/methods , Gels , Particle Size
17.
Iran J Biotechnol ; 20(4): e3124, 2022 Oct.
Article in English | MEDLINE | ID: mdl-38344315

ABSTRACT

Background: Soybean is an important oilseed crop that its development and production are affected by environmental stresses (such as saline-alkaline and water deficit). Objectives: This experiment was performed with the aim of identifying candidate genes in saline-alkaline stress and water-deficit stress conditions using transcriptome analysis and to investigate the expression of these genes under water deficit stress conditions using RTqPCR. Materials and Methods: In this experiment, soybean transcriptome data under saline-alkaline and water-deficit stress were downloaded from the NCBI website, and then the co-expression modules were determined for them and the gene network was plotted for each module, and finally, the hub genes were identified. To compare the expression of genes in saline-alkaline and water deficit conditions, soybean plants were subjected to water deficit stress and their gene expression was determined using RTqPCR. Results: The filtered (Log FC above +2 and below -2) genes of soybean were grouped under saline-alkaline stress in 15 modules and under water-deficit stress in 2 different modules. Within each module, the interaction of genes was identified using the gene network, then three genes of ann11, cyp450 and zfp selected as hub genes. These hub genes are highly co-expression with other network genes, which not only display differential expression but also differential co-expression. The results of RT-PCR indicated that cyp450 gene expression was not significantly different from the control, while ann11 gene expression significantly increased under water deficit stress, but zfp gene expression decreased significantly under water deficit stress. Conclusions: We identified three genes, ann11, cyp450 and zfp, as hub genes. According to our results, ann11 gene had a significant increase in expression under water deficit stress, which can indicate the importance of this gene under drought conditions. Therefore, according to the results of this experiment as well as other researchers, we introduce this gene as a key gene in water deficit tolerance and recommend its use in genetic engineering to increase the tolerance of other plants.

18.
Braz. j. oral sci ; 20: e210525, jan.-dez. 2021. ilus
Article in English | BBO - Dentistry , LILACS | ID: biblio-1253928

ABSTRACT

Aim: Recent reports indicate that deproteinization of acid-etched dentin surface can extend penetration depth of adhesive agents. The main goal of the present research was to investigate the deproteinization effect of Nd:YAG and diode 940 lasers on acid-etched dentin and microleakage grade in class V composite restorations. Methods: 36 extracted human premolar teeth were selected to make standard buccal and lingual class V cavities. These samples were randomly split into three sub-groups: 1.Control group, in which composite was applied for restoration after etch and bonding process without deproteinization; 2.Nd:YAG laser group, in which the teeth were deproteinized with Nd:YAG laser after etching and painting internal surfaces of cavities with Van Geison stain and then composite restorations applied just as control group; 3.Diode laser group, in which the process was similar to Nd:YAG laser group, but instead, diode 940 laser was irradiated. The teeth were bisected into two equal longitudinal buccal and lingual halves. Marginal microleakage of samples was scored by using a stereomicroscope. Kruskal- Wallis, Mann-Whitney U and Fisher's statistical tests were employed for analysis of the obtained data. Results: A significant reduction in marginal microleakage was observed for both groups treated with laser (Nd:YAG and diode 940)compared to control (p=0.001 & p=0.047). There was no significant difference in marginal microleakage between Nd:YAG laser and diode 940groups (P = 0.333). Conclusion: Nd:YAG and diode 940 laser deproteinization of acid-etched dentin decreased the marginal microleakage of in-vitro class V resin composite restorations


Subject(s)
Humans , Acid Etching, Dental , Dentin-Bonding Agents , Dental Leakage , Lasers
19.
Article in English | MEDLINE | ID: mdl-34480699

ABSTRACT

Inspired by a circular economy paradigm, an evolving momentum of policies and legislations aims to close the loop of product lifecycles through improved level of recycling, remanufacturing, and reuse, with the objective of adding value to the economy while not endangering the environment. However, the trade-off between the environmental and economic sustainability of designing business processes is inevitable. To address this trade-off in the supply chain context, competing objectives regarding both cost minimization and reduction in carbon emission should be simultaneously considered and integrated into a comprehensive model. This complexity is however elevated when uncertainty of demand is taken into consideration. In this study, the design of a closed-loop supply chain is investigated where competing objectives of cost and sustainability of supply chain operations are evaluated under demand uncertainty. Augmented Weighted Tchebycheff (AWT) and ε-constraint methods are employed to address the multi-objectivity of the problem while a robust optimization approach is applied to deal with the demand uncertainty. The results confirm that the proposed approach provides efficient solutions for designing a green closed-loop supply chain network.

20.
Genomics ; 113(4): 2793-2799, 2021 07.
Article in English | MEDLINE | ID: mdl-34118384

ABSTRACT

OTOG encodes for otogelin, a component of the tectorial membrane. This gene is associated with nonprogressive mild-to-moderate hearing loss. However, no studies have yet identified the association between OTOG variation and severe-to-profound hearing loss. Therefore, to address this issue, a family-based whole-exome sequencing strategy (WES) was carried out. Two unrelated Iranian families with non-syndromic hearing loss were identified, and WES was conducted on one selected candidate from each family. As a result, a rare homozygous missense variant, OTOG (c.C2383T:p.R795C), was detected in both of the subjected probands, and segregation analysis confirmed the c.C2383T variant in seven cases of severe-to-profound hearing loss. Additionally, the results from the protein modeling demonstrated that the altered position of a few disulfide bonds in the TIL domain may have a deleterious impact on protein stability and normal functionality. In conclusion, it seems that the homozygosity of the OTOG c.C2383T mutation sheds light on hearing loss pathobiology. Nevertheless, further studies are required to unravel the precise function of OTOG mutation, which is potentially associated with severe-to-profound hearing loss.


Subject(s)
Deafness , Hearing Loss , Deafness/genetics , Hearing Loss/genetics , Homozygote , Humans , Iran , Membrane Glycoproteins/genetics , Mutation , Mutation, Missense , Pedigree , Exome Sequencing/methods
SELECTION OF CITATIONS
SEARCH DETAIL
...