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Approximately one in five college students suffers from food insecurity, however, racially/ethnically minoritized students attending urban universities are more likely to experience food insecurity. Although these concerns are well documented, there has been a gap in the theory-driven tools used by higher education professionals to alleviate food insecurity for minoritized students at urban institutions. Guided by a reconceptualized Ecological Systems Model (Network-Ecological Systems Model), this present study aims to identify a model and solutions on food insecurity mitigation for minoritized college students in urban institutions. Findings of the developed model suggest pathways of social connections that higher education professionals can use for direct alleviation of food insecurity, which has major implications for the academic achievement, social connections, and a general sense of belonging and belonging.

Abstract Background Rett syndrome (RTT) is a rare, life-threatening, genetic neurodevelopmental disorder. Treatment in RTT encounters many challenges. Trofinetide, a modified amino-terminal tripeptide of insulin-like growth factor 1, has demonstrated clinically promising results in RTT. In this study, trofinetide efficacy and safety in RTT are systematically reviewed and meta-analyzed. Methods A systematic search of five electronic databases was conducted until January 2024. Review Manager 5.4 software was used for the analysis. The analysis was based on a weighted mean difference and standard error with a confidence interval (CI) of 95%, and a statistically significant P-value was considered if it was

Abstract Background Psychological stress is a common psychological comorbidity among medical students and worsens their quality of life. Psychological resilience is thought to have a protective role against stress. However, evidence regarding the prevalence of stress and resilience alongside their associated factors is scarce, especially in the Middle East. This is the first multicenter, cross-sectional study to investigate resilience and stress among Egyptian medical students. Methods The current cross-sectional study was conducted on 2465 university students in seven public universities in Egypt. The universities were selected using the simple randomization method. The data was collected using a self-administered questionnaire consisting of four parts: demographic data, socioeconomic tool represented in the Family Affluence Scale (FAS), the Kessler Psychological Distress Scale (K10), and the Brief Resilience Scale (BRS). Data was analyzed in SPSS version 26 software. Results The majority of the students were stressed (86.5%), most of whom had severe stress (48.9%). Most of the students had low resilience (49.9%), while only 3.2% had high resilience. In the logistic regression analysis, being a female, living alone, spending long hours on social media, and thinking of suicide or leaving medicine were associated with being stressed and having low resilience. Medical students with low resilience were significantly more liable to stress [Adjusted odds ratio (AOR) = 3.667, confidence interval (CI): 2.709–4.965, P = 0.000], and vice versa [AOR = 3.709, CI: 2.746–5.009, P = 0.000]. Interestingly, high socioeconomic status showed a significant association with high resilience (P = 0.004); nonetheless, it was not associated with stress (P = 0.993). Academic grades were not associated with both the level of stress and resilience. Aging, being in clinical or academic stages, smoking, having a chronic disease, and being financially-supported are neither associated with stress nor resilience. Conclusions The present study revealed that Egyptian medical students had low resilience and high stress, with a significant relationship between both of them. Further investigations via longitudinal study design to understand the resilience-stress relationship are recommended. Developing and implementing resilience-improving strategies in medical schools is highly recommended to decrease the prevalence of stress and its subsequent burdens.

Unusual chest pain is often observed in older women with diabetes, high blood pressure, and heart disease. Some unusual manifestations of myocardial infarction have so far been reported, including earache, flank pain, fatigue, neck pain, nausea and vomiting, shortness of breath, and shoulder pain. In this article, we report a case of rare symptoms of cardiovascular disease with referral symptoms, including abdominal colic pain. The patient was a 55-year-old man with a history of diabetes under treatment with insulin who had abdominal colic pain, periodic epigastric tenderness, and frequent nausea and vomiting for 2 days. At first, he was suspected of pancreatitis, but considering that his amylase and lipase enzymes were normal and no evidence of the existence of free abdominal and pelvic fluid was observed according to ultrasound results, the hypothesis of pancreatitis was rejected. Despite the normality of the initial ECG until the night before the visit by the cardiologist, the patient experienced more severe pain and, as a result, was referred to the cardiac internal ward until the end of the same night, after angiography, it was found that the obtuse marginal (OM1) branch of coronary arteries had severe narrowing (90-99%). Abdominal tenderness and colic pain are among the unusual manifestations of myocardial infarction. In patients with cardiac risk factors, such as diabetes and chronic kidney disease, despite the existence of a normal ECG, uncommon manifestations should be checked.

The medical and surgical condition of mother during pregnancy can be affected on prenatal morbidity and mortality. Physician must have knowledge about the effects of pregnancy on the course of disease as well as the effects of disease on outcome of pregnancy and treatment of disease during pregnancy. Hypertension is one of the common difficulties and complications during pregnancy, which leads to hospitalization. Blood pressure disorders occur in approximately 10% of pregnancies in the United States, and it accounts for 12.3% of maternal deaths. Hypertension in pregnancy is an important alarm that carries risks for both the mother and the fetus. In some cases, these complications can be life-threatening risks for both. For example, preeclampsia ranks among the top four leading causes of maternal mortality, when it is diagnosed and treated correctly it is possible to prevent adverse consequences. There are different types of high blood pressure in pregnancy that can be related to pregnancy or not related to pregnancy, and the diagnosis and management of each of them are different from each other. The purpose of this study was to provide a brief overview of definitions, diagnostic methods, risk factors, symptoms, side effects, drug and non-drug treatments, and prevention of various types of hypertension during pregnancy based on the latest American Obstetrics and Gynecology Guidelines and the latest edition of Beckman and Ling's Obstetrics and Gynecology.

This paper presents the topic review (TR), a novel semi-automatic framework designed to enhance the efficiency and accuracy of literature reviews. By leveraging the capabilities of large language models (LLMs), TR addresses the inefficiencies and error-proneness of traditional review methods, especially in rapidly evolving fields. The framework significantly improves literature review processes by integrating advanced text mining and machine learning techniques. Through a case study approach, TR offers a step-by-step methodology that begins with query generation and refinement, followed by semi-automated text mining to identify relevant articles. LLMs are then employed to extract and categorize key themes and concepts, facilitating an in-depth literature analysis. This approach demonstrates the transformative potential of natural language processing in literature reviews. With an average similarity of 69.56% between generated and indexed keywords, TR effectively manages the growing volume of scientific publications, providing researchers with robust strategies for complex text synthesis and advancing knowledge in various domains. An expert analysis highlights a positive Fleiss’ Kappa score, underscoring the significance and interpretability of the results.

Background. The global rise of chronic diseases, especially cardiovascular disease (CVD), poses a significant public health challenge, being a leading cause of death and disability worldwide. In Iran, the surge in CVD incidence and its risk factors, along with a decrease in the age of onset, has notably increased the reliance on coronary artery bypass grafting (CABG) as a life-saving intervention. Staged hybrid coronary revascularization (HCR), which combines percutaneous coronary intervention with delayed CABG, offers a novel approach for patients with complex coronary artery disease, potentially improving survival and reducing complications. Considering the newness of this treatment method and the limitations of previous studies, we investigated the results of staged HCR in acute ST-elevation myocardial infarction (STEMI) patients in this study. Methods. This observational study was performed on consecutive patients with acute STEMI who underwent staged HCR and were referred to Valiasr and Razi hospitals in Birjand from 2015 to 2022. The required information (demographic information, angiography result, and operation side effects) was collected in a checklist. If necessary, the patients were contacted by phone. After collecting the data, they were entered into SPSS version 16 software. Results. This study was conducted on 33 patients with a mean age of 64.88 ± 9.24 years (69.7% male). The average hospital stay was 11.6 ± 8.9 days (3 to 72 days). The mean ejection fraction and syntax score were 36.5% ± 10.2% and 31.21 ± 6.7, respectively. Following surgery and during hospitalization, arrhythmias were observed, including 33.3% with premature ventricular contractions, 18.1% with atrial fibrillation, and 3.1% with ventricular tachycardia. The average number of pack cells (red blood cells that have been separated for blood transfusion) and creatinine changes before and after hybrid surgery were 640.9 ± 670.9 cc and 0.055 ± 0.07. In the follow-up, 9.09% of patients had late mortality, 6.1% of patients had urinary tract infections during hospitalization, 6.1% of patients had surgical site infections, 3.1% needed dialysis, and none of the studied patients had premature death or need for reintervention. Conclusions. The results of our study indicated that staged HCR performed early after an ACS is not associated with significant mortality or complications. Therefore, it is advisable to consider staged HCR as a surgical option in appropriate cases.

IntroductionTrophoblast cell surface antigen 2 (TROP2; EpCAM2) is a transmembrane glycoprotein which is closely related to EpCAM (EpCAM; EpCAM1). Both proteins share partial overlapping functions in epithelial development and EpCAM expression but have not been comparatively analyzed together in bladder carcinomas. TROP2 constitutes the target for the antibody-drug conjugate Sacituzumab govitecan (SG; TrodelvyTM) which has been approved for treatment of metastatic urothelial carcinoma by the United States Food and Drug administration (FDA) irrespective of its TROP2 expression status. MethodsTo evaluate the potential clinical significance of subtle differences in TROP2 and EpCAM expression in urothelial bladder cancer, both proteins were analyzed by multiplex fluorescence immunohistochemistry in combination with a deep-learning based algorithm for automated cell detection on more than 2,700 urothelial bladder carcinomas in a tissue microarray (TMA) format. ResultsThe staining pattern of TROP2 and EpCAM were highly similar. For both proteins, the staining intensity gradually decreased from pTa G2 low grade (TROP2: 68.8±36.1; EpCAM: 21.5±11.7) to pTa G2 high grade (64.6±38.0; 19.3±12.2) and pTa G3 (52.1±38.7; 16.0±13.0, p

Abstract Background Diverse ethnic groups that exist in Iran may differ regarding the risk factors such as hypertension, hyperlipidemia, dyslipidemia, diabetes mellitus, and family history of non-communicable disease. Premature Coronary Artery Disease (PCAD) is more endemic in Iran than before. This study sought to assess the association between ethnicity and lifestyle behaviors in eight major Iranian ethnic groups with PCAD. Methods In this study, 2863 patients aged ≤ 70 for women and ≤ 60 for men who underwent coronary angiography were recruited in a multi-center framework. All the patients’ demographic, laboratory, clinical, and risk factor data were retrieved. Eight large ethnicities in Iran, including the Farses, the Kurds, the Turks, the Gilaks, the Arabs, the Lors, the Qashqai, and the Bakhtiari were evaluated for PCAD. Different lifestyle components and having PCAD were compared among the ethnical groups using multivariable modeling. Results The mean age of the 2863 patients participated was 55.66 ± 7.70 years. The Fars ethnicity with 1654 people, was the most subject in this study. Family history of more than three chronic diseases (1279 (44.7%) was the most common risk factor. The Turk ethnic group had the highest prevalence of ≥ 3 simultaneous lifestyle-related risk factors (24.3%), and the Bakhtiari ethnic group had the highest prevalence of no lifestyle-related risk factors (20.9%). Adjusted models showed that having all three abnormal lifestyle components increased the risk of PCAD (OR = 2.28, 95% CI: 1.04–1.06). The Arabs had the most chance of getting PCAD among other ethnicities (OR = 2.26, 95%CI: 1.40–3.65). While, the Kurds with a healthy lifestyle showed the lowest chance of getting PCAD (OR = 1.96, 95%CI: 1.05–3.67)). Conclusions This study found there was heterogeneity in having PACD and a diverse distribution in its well-known traditional lifestyle-related risk factors among major Iranian ethnic groups.

May-Turner syndrome is a relatively uncommon anatomical variation in which patients develop iliofemoral deep vein thrombosis (DVT) due to venous occlusion. In this syndrome, the left common iliac vein is compressed against the fifth lumbar vertebra by the right common iliac artery. The real incidence/prevalence of May-Turner syndrome is not precisely known, but it is estimated to be between 22 - 32% based on imaging studies. However, this syndrome is hardly ever considered in DVT diagnosis, especially in individuals with other risk factors. This venous occlusion may cause several symptoms such as leg swelling, venous thrombosis, or even more serious complications including pulmonary embolism. The use of systemic anticoagulants alone is inefficient for the treatment of May-Turner syndrome, and more aggressive approaches are necessary to prevent clots recurrence. In this article, we described a case of a young woman suffering from pain and progressive swelling of the left lower limb without any provoking factors. With a comprehensive diagnostic approach including Doppler ultrasound and seeing a thrombus in the external iliac and left femoral veins and obstruction of the left common iliac vein in the venography images, it was determined that she has iliac vein compression syndrome. When facing unilateral venous thromboses, especially in younger age groups, the differential diagnosis should also consider May-Turner syndrome.

Abstract Bromodomain and extra-terminal tail (BET) proteins have been identified as potential epigenetic targets in cancer, including glioblastoma. These epigenetic modifiers link the histone code to gene transcription that can be disrupted with small molecule BET inhibitors (BETi). With the aim of developing rational combination treatments for glioblastoma, we analyzed BETi-induced differential gene expression in glioblastoma derived-spheres, and identified 6 distinct response patterns. To uncover emerging actionable vulnerabilities that can be targeted with a second drug, we extracted the 169 significantly disturbed DNA Damage Response genes and inspected their response pattern. The most prominent candidate with consistent downregulation, was the O-6-methylguanine-DNA methyltransferase (MGMT) gene, a known resistance factor for alkylating agent therapy in glioblastoma. BETi not only reduced MGMT expression in GBM cells, but also inhibited its induction, typically observed upon temozolomide treatment. To determine the potential clinical relevance, we evaluated the specificity of the effect on MGMT expression and MGMT mediated treatment resistance to temozolomide. BETi-mediated attenuation of MGMT expression was associated with reduction of BRD4- and Pol II-binding at the MGMT promoter. On the functional level, we demonstrated that ectopic expression of MGMT under an unrelated promoter was not affected by BETi, while under the same conditions, pharmacologic inhibition of MGMT restored the sensitivity to temozolomide, reflected in an increased level of γ-H2AX, a proxy for DNA double-strand breaks. Importantly, expression of MSH6 and MSH2, which are required for sensitivity to unrepaired O6-methylguanine-lesions, was only briefly affected by BETi. Taken together, the addition of BET-inhibitors to the current standard of care, comprising temozolomide treatment, may sensitize the 50% of patients whose glioblastoma exert an unmethylated MGMT promoter.

Background and Aims: Chronic diseases affect daily life activities. Naturally, as people age, their activity level drops, increasing the risk of diseases. Therefore, physical activity and aging are in a vicious cycle. The present study aimed to investigate the relationship between chronic diseases and physical activity in the elderly in Birjand, Iran. Materials and Methods: This cross-sectional study was part of a cohort study entitled "Comprehensive Plan for the Elderly in Birjand" conducted on 1,418 participants aged 60 years and older in 2018. Before data collection, informed consent was obtained, and physical activity was measured using LASA Questionnaire. The standard medical history questionnaire assessed the participant's chronic disease history. Results: Out of 1,418 elderly participants, 683 (48.1%) were male, and 735 (51.8%) were female, 1,063 (74.9%) were in the age range of 60-74. Around 351 (24.8%) of the participants had diabetes, 606 (42.7%) had high blood pressure, 457 (32.2%) suffered from dyslipidemia, and 79 (5.6%) had experienced a heart attack. The results showed that 50% of the geriatrics in the current study had moderate physical activity (more than 600 minutes per week), 37% had no physical activity (less than 300 minutes per week), and 13% had little physical activity (between 300 and 600 minutes per week). Diseases such as arthritis (P=0.03), cancer (P=0.02), hypertension (P=0.001), stroke (P=0.001), myocardial infarction (P=0.04), and heart failure (P=0.03) had a significant relationship with physical activity. Conclusion: As there was a relationship between chronic diseases and physical activity, the results of this study help policymakers in the field of geriatrics' health and proper planning for health and treatment services.

Introduction Comprehensive local data on adolescent health are often lacking, particularly in lower resource settings. Furthermore, there are knowledge gaps around which interventions are effective to support healthy behaviours. This study generates health information for students from cities in four middle-income countries to plan, implement and subsequently evaluate a package of interventions to improve health outcomes.Methods and analysis We will conduct a cluster randomised controlled trial in schools in Fez, Morocco; Jaipur, India; Saint Catherine Parish, Jamaica; and Sekondi-Takoradi, Ghana. In each city, approximately 30 schools will be randomly selected and assigned to the control or intervention arm. Baseline data collection includes three components. First, a Global School Health Policies and Practices Survey (G-SHPPS) to be completed by principals of all selected schools. Second, a Global School-based Student Health Survey (GSHS) to be administered to a target sample of n=3153 13–17 years old students of randomly selected classes of these schools, including questions on alcohol, tobacco and drug use, diet, hygiene, mental health, physical activity, protective factors, sexual behaviours, violence and injury. Third, a study validating the GSHS physical activity questions against wrist-worn accelerometry in one randomly selected class in each control school (n approximately 300 students per city). Intervention schools will develop a suite of interventions using a participatory approach driven by students and involving parents/guardians, teachers and community stakeholders. Interventions will aim to change existing structures and policies at schools to positively influence students’ behaviour, using the collected data and guided by the framework for Making Every School a Health Promoting School. Outcomes will be assessed for differential change after a 2-year follow-up.Ethics and dissemination The study was approved by WHO’s Research Ethics Review Committee; by the Jodhpur School of Public Health’s Institutional Review Board for Jaipur, India; by the Noguchi Memorial Institute for Medical Research Institutional Review Board for Sekondi-Takoradi, Ghana; by the Ministry of Health and Wellness’ Advisory Panel on Ethics and Medico-Legal Affairs for St Catherine Parish, Jamaica, and by the Comité d’éthique pour la recherche biomédicale of the Université Mohammed V of Rabat for Fez, Morocco. Findings will be shared through open access publications and conferences.Trial registration number NCT04963426.

Background: Statins use is the most important treatment for high LDL cholesterol in patients with premature coronary artery disease (CAD). Previous reports have shown racial and gender differences in statin use in the general population, but this wasn't studied in premature CAD based on different ethnicities. Methods and results: Our study includes 1917 men and women with confirmed diagnosis of premature CAD. Logistic regression model was used to evaluate the high LDL cholesterol control in the groups and the OR with 95% confidence interval (CI) was reported as the effect size. After adjustment for confounders, the odds of controlling LDL in women taking Lovastatin, Rosuvastatin, and Simvastatin were 0.27 (0.03, 0.45) lower in comparison with men. Also, in participant who took 3 types of statins, the odds of controlling LDL were significantly different between Lor and Arab compared with Fars ethnicity. After adjustment to all confounders (full model), the odds of controlling LDL were lower for Gilak in Lovastatin, Rosuvastatin, and Simvastatin by 0.64 (0.47, 0.75); 0.61 (0.43, 0.73); 0.63 (0.46, 0.74) respectively and higher for Arab in Lovastatin, Rosuvastatin, and Simvastatin by 4.63 (18.28, 0.73); 4.67 (17.47, 0.74); 4.55 (17.03, 0.71) respectively compared to Fars. Conclusions: Major differences in different gender and ethnicities may have had led to disparities in statin use and LDL control. Awareness of the statins impact on high LDL cholesterol based on different ethnicities can help health decision-makers to close the observed gaps in statin use and control LDL to prevent CAD problems.

Abstract Elderly patients represent a growing proportion of individuals with glioblastoma, who however, are often excluded from clinical trials owing to poor expected prognosis. We aimed at identifying age-related molecular differences that would justify and guide distinct treatment decisions in elderly glioblastoma patients. The combined DNA methylome (450 k) of four IDH wild-type glioblastoma datasets, comprising two clinical trial cohorts, was interrogated for differences based on the patients’ age, DNA methylation (DNAm) age acceleration (DNAm age “Horvath-clock” minus patient age), DNA methylation-based tumor classification (Heidelberg), entropy, and functional methylation of DNA damage response (DDR) genes. Age dependent methylation included 19 CpGs (p-value ≤ 0.1, Bonferroni corrected), comprising a CpG located in the ELOVL2 gene that is part of a 13-gene forensic age predictor. Most of the age related CpGs (n = 16) were also associated with age acceleration that itself was associated with a large number of CpGs (n = 50,551). Over 70% age acceleration-associated CpGs (n = 36,348) overlapped with those associated with the DNA methylation based tumor classification (n = 170,759). Gene set enrichment analysis identified associated pathways, providing insights into the biology of DNAm age acceleration and respective commonalities with glioblastoma classification. Functional methylation of several DDR genes, defined as correlation of methylation with gene expression (r ≤ −0.3), was associated with age acceleration (n = 8), tumor classification (n = 12), or both (n = 4), the latter including MGMT. DNAm age acceleration was significantly associated with better outcome in both clinical trial cohorts, whereof one comprised only elderly patients. Multivariate analysis included treatment (RT, RT/TMZ→TMZ; TMZ, RT), MGMT promoter methylation status, and interaction with treatment. In conclusion, DNA methylation features of age acceleration are an integrative part of the methylation-based tumor classification (RTK I, RTK II, MES), while patient age seems hardly reflected in the glioblastoma DNA methylome. We found no molecular evidence justifying other treatments in elderly patients, not owing to frailty or co-morbidities.

Prognostic markers in routine clinical management of breast cancer are often assessed using RNA-based multi-gene panels that depend on fluctuating tumor purity. Multiplex fluorescence immunohistochemistry (mfIHC) holds the potential for an improved risk assessment. To enable automated prognosis marker detection (i.e., progesterone receptor [PR], estrogen receptor [ER], androgen receptor [AR], GATA3, TROP2, HER2, PD-L1, Ki67, TOP2A), a framework for automated breast cancer identification was developed and validated involving thirteen different artificial intelligence analysis steps and an algorithm for cell distance analysis using 11+1-marker-BLEACH&STAIN-mfIHC staining in 1404 invasive breast cancers of no special type (NST). The framework for automated breast cancer detection discriminated normal glands from malignant glands with an accuracy of 98.4%. This approach identified that five (PR, ER, AR, GATA3, PD-L1) of nine biomarkers were associated with prolonged overall survival (p ≤ 0.0095 each) and two of these (PR, AR) were found to be independent risk factors in multivariate analysis (p ≤ 0.0151 each). The combined assessment of PR-ER-AR-GATA3-PD-L1 as a five-marker prognosis score showed strong prognostic relevance (p < 0.0001) and was an independent risk factor in multivariate analysis (p = 0.0034). Automated breast cancer detection in combination with an artificial intelligence-based analysis of mfIHC enables a rapid and reliable analysis of multiple prognostic parameters. The strict limitation of the analysis to malignant cells excludes the impact of fluctuating tumor purity on assay precision.

Agronomic protocols (rotation, tillage, fertilization and crop protection) commonly used in organic and conventional crop production differ significantly and there is evidence that modern varieties developed for conventional high-input farming systems do not have the combination of traits required for optimum performance in organic farming systems. Specifically, there is evidence that prohibition on the use of water-soluble, mineral N, P and K fertilizers and synthetic pesticide inputs in organic farming results in a need to revise both breeding and selection protocols. For organic production systems, the focus needs to be on the following: (i) traits prioritized by organic farmers such as high nutrient use efficiency from organic fertilizer inputs, competitiveness against weeds, and pest and disease resistance, (ii) processing quality parameters defined by millers and bakers and (iii) nutritional quality parameters demanded by organic consumers. In this article, we review evidence from variety trials and factorial field experiments that (i) studied to what extent there is a need for organic farming focused breeding programs, (ii) investigated which traits/trait combinations should be targeted in these breeding programs and/or (iii) compared the performance of modern varieties developed for the conventional sector with traditional/older varieties favored by organic farmers and/or new varieties developed in organic farming focused breeding programs. Our review focuses on wheat because there have been organic and/or low-input farming focused wheat breeding programs for more than 20 years in Europe, which has allowed the performance of varieties/genotypes from organic/low-input and conventional farming focused breeding programs to be compared.

Due to heightening concern about radiation hazards protection, activity concentrations of 226Ra, 232Th, 40K in forty soil samples collected from Shoubra El Kheima in the South Nile Delta were measured using gamma-ray spectrometry. The mean activity concentrations of 226Ra and 40K were higher in 20% of the considered samples than the world average values. A comprehensive comparison with up-to-date data was carried out. Spatial distribution maps of the measured radionuclides and radiological parameters were generated. The distributions of natural radionuclides were influenced by the soil organic matter, clay content, and scavenger metals oxides, as well as differences in the physical and chemical attributes and solubility of these radionuclides. The results revealed that industrial activity and agricultural practices in the study area caused an incremental increase in 226Ra and 40K activity concentrations. It can be deduced that although there are intensive industrial activities in this area, the natural radiation that comes from the soil is normal and does not pose a significant radiological hazard to the public. The natural radioactivity of soil in this area needs to be monitored periodically to prevent unnecessary radiation exposure to inhabitants.

Hereditary hearing loss (HL) is known to be highly locus/allelic heterogeneous, and the prevalence of different HL forms significantly varies among populations worldwide. Investigation of region-specific landscapes of hereditary HL is important for local healthcare and medical genetic services. Mutations in the SLC26A4 gene leading to nonsyndromic recessive deafness (DFNB4) and Pendred syndrome are common genetic causes of hereditary HL, at least in some Asian populations. We present for the first time the results of a thorough analysis of the SLC26A4 gene by Sanger sequencing in the large cohorts of patients with HL of unknown etiology belonging to two neighboring indigenous Turkic-speaking Siberian peoples (Tuvinians and Altaians). A definite genetic diagnosis based on the presence of biallelic SLC26A4 mutations was established for 28.2% (62/220) of all enrolled Tuvinian patients vs. 4.3% (4/93) of Altaian patients. The rate of the SLC26A4-related HL in Tuvinian patients appeared to be one of the highest among populations worldwide. The SLC26A4 mutational spectrum was characterized by the presence of Asian-specific mutations c.919-2A>G and c.2027T>A (p.Leu676Gln), predominantly found in Tuvinian patients, and c.2168A>G (p.His723Arg), which was only detected in Altaian patients. In addition, a novel pathogenic variant c.1545T>G (p.Phe515Leu) was found with high frequency in Tuvinian patients. Overall, based on the findings of this study and our previous research, we were able to uncover the genetic causes of HL in 50.5% of Tuvinian patients and 34.5% of Altaian patients.