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Abstract Objective The primary goal of this study is to discern the optimal adjuvant treatment for patients diagnosed with bacterial vaginosis, focusing on reducing recurrence rates. Methods This study is a double-blind clinical trial with no previous similar trials conducted to date. The study population consisted of non-pregnant, married women visiting teaching hospitals’ clinics in Mashhad, complaining of vaginal discharge. After informed consent and questionnaire completion, samples were obtained from vaginal discharge surrounding the cervix of clinically diagnosed bacterial vaginosis patients. Using Gram staining, a gold standard method for bacterial vaginosis diagnosis, samples were examined under a microscope according to the Nugent score. After initial treatment with metronidazole, patients were divided into two groups receiving either vaginal or oral probiotics. Results Of the 55 participating women, 20 were in the vaginal probiotic group and 35 were in the oral probiotic group. No significant demographic or clinical differences existed between groups at baseline. The Nugent score decreased from 8.5 to 3 in the vaginal group and from 9 to 3 in the oral group, suggesting the effectiveness of both treatments. While the difference between groups was not statistically significant, each group showed significant improvements from their initial states (p-value

Background: Despite the extensive use of the gonadotropin-releasing hormone (GnRH) antagonist protocol in treating infertile women, particularly those with polycystic ovary syndrome (PCOS), there have not been sufficient evidence to compare the flexible and fixed variants in in vitro fertilization (IVF) cycles. Objective: This study aims to assess the treatment outcomes of flexible and fixed types of GnRH-antagonist protocol for IVF in women with PCOS. Materials and Methods: In this randomized clinical trial, 150 infertile women with PCOS, who were candidates for IVF, and referred to the Yazd Research and Clinical Center for Infertility, Yazd, Iran between October 2023 and February 2024 were included. Participants were divided into 2 groups (n = 75/each) based on the type of antagonist protocol (fixed or flexible). GnRH antagonist administration started on the 5 th day of gonadotropin treatment in the fixed group. In the flexible group when there was at least one follicle 12–14 mm, GnRH antagonist was started. Finally, the number of metaphase II oocyte, the quality of embryos, the duration of the stimulation cycle, the dose of gonadotropin, the number of GnRH-antagonist, and the rate of ovarian hyperstimulation syndrome were evaluated. Results: No statistically significant difference was observed in terms of cycle length and the total dose of gonadotropin between groups. Nevertheless, a notable distinction was observed in the total number of oocytes (17.84 vs. 15.5, p = 0.023) and mature oocytes (13.64 vs. 11.83, p = 0.019) in the flexible group compared to the fixed group. Conclusion: In conclusion, the IVF outcomes are more favorable in women with PCOS undergoing the flexible GnRH-antagonist protocol compared to the fixed protocol.

Background and purpose:. The quality of life of patients with chronic kidney failure undergoing hemodialysis is influenced by physical, psychological, and social factors. Accurate assessment of these dimensions using standardized tools is of great importance. This study aimed to determine the psychometric properties of the 12-item Quality of Life Questionnaire in patients undergoing hemodialysis in the Iranian population. Materials and methods: In this cross-sectional study conducted in 2023, 411 hemodialysis patients in Mazandaran were selected through convenience sampling. After translating the Short Form-12 Quality of Life Questionnaire, its psychometric properties were assessed through exploratory factor analysis, network analysis, and confirmatory factor analysis, along with construct validity (convergent and divergent validity). Internal consistency was calculated using Cronbach's alpha and McDonald's omega coefficients. Results: The results of the exploratory factor analysis indicated that two factors—physical health status and mental health status—accounted for 44.55% of the variance in the quality of life among hemodialysis patients. Furthermore, confirmatory factor analysis showed that the hypothesized model had a good fit (CFI= 0.930, IFI= 0.931, RFI= 0.936, TLI= 0.954). The extracted mental health factor in men demonstrated convergent validity (AVE above 0.5), and both factors exhibited appropriate divergent validity. Ultimately, the internal consistency of the Quality of Life Questionnaire was found to be within an acceptable range (greater than 0.7). Conclusion: The psychometric analysis of the Quality of Life Questionnaire indicates that patients with chronic kidney failure undergoing hemodialysis perceive their quality of life through two primary dimensions: physical and mental health status. This study confirmed the psychometric properties (validity and reliability) and the appropriate factor structure of the Persian version of the Quality of Life Questionnaire for patients undergoing hemodialysis. Healthcare providers can use this tool in various studies to assess and improve the quality of life of hemodialysis patients The use of this questionnaire allows researchers and healthcare professionals to more accurately and comprehensively evaluate the different aspects of quality of life in hemodialysis patients. Employing this tool can enhance treatment processes and improve patient satisfaction, serving as a valuable instrument for future research. This study emphasizes the importance of using valid and reliable tools to assess quality of life and recommends that nurses and other healthcare professionals integrate the Persian version of the 12-item Quality of Life Questionnaire into their treatment and research programs to help improve the quality of life of hemodialysis patients and achieve better treatment outcomes. Future studies are recommended to investigate the impact of factors such as nutrition, social support, and rehabilitation programs on the quality of life of hemodialysis patients. Additionally, utilizing this questionnaire in different populations and therapeutic contexts can contribute to the generalizability of the findings and offer a more effective tool for quality of life assessments. Overall, the findings of this study indicate that the 12-item Quality of Life Questionnaire is a reliable and valid tool for assessing the quality of life in hemodialysis patients, making it valuable for both research and clinical programs. Using this tool can help improve patients' quality of life and treatment outcomes while providing essential data for clinical decision-making.

Abstract Introduction The Fear of Pain Questionnaire (FOPQ) is a self-report tool designed to measure an individual’s fear of pain (FOP). While the Persian version of the FOPQ (FOPQ-P) has been developed, its validity and reliability have not yet been assessed in the Iranian context. This study aims to evaluate the psychometric properties of the FOPQ-P among Iranian patients after surgery. Methods A methodological study was conducted in 2023 involving 400 post-surgery patients selected with a convenience sampling. The FOPQ was translated into Persian, and its psychometric properties were analyzed using network analysis, exploratory factor analysis (EFA), confirmatory factor analysis (CFA), as well as assessments of convergent and discriminant validity. Internal consistency was measured using Cronbach’s alpha, McDonald’s Omega, average inter-item correlation coefficient, Composite Reliability, and Maximal Reliability. Results The EFA results with Promax and Kaiser Normalization rotation identified two factors that explained 54.32% of the variance, comprising seven items. The CFA confirmed the model’s validity. Both convergent and discriminant validity were established. The reliability analyses showed that Cronbach’s alpha, McDonald’s omega, composite reliability, and MaxR for all constructs were above 0.7. Additionally, the average inter-item correlation coefficient was greater than 0.5, indicating strong internal consistency and construct reliability. Conclusion The findings suggest that the FOPQ-P possesses a valid structure and was acceptable reliability in patients cultural context of Iran post-surgery, making it a suitable instrument for measuring fear of pain in this population.

Abstract Amyotrophic lateral sclerosis (ALS) causes progressive motor neuron degeneration, but an in vivo understanding of its early pathology remains limited. A recent study used topographic layer imaging to investigate iron and calcium accumulation in the primary motor cortex (M1) of patients with ALS compared with controls. Despite the preserved cortical thickness, ALS patients showed increased iron in layer 6 and calcium accumulation in layer 5a and the superficial layer. Calcium accumulation was particularly prominent in the low‐myelin borders, potentially preceding the demyelination. This study reveals a novel in vivo pathology in ALS, suggesting that calcium dysregulation may precede iron accumulation and contribute to early M1 cell degeneration. Further investigation using quantitative susceptibility mapping and complementary techniques, such as diffusion kurtosis imaging, along with ultrahigh‐field magnetic resonance imaging, into the role of calcium and early intervention strategies is warranted.

Abstract Quantitative susceptibility mapping (QSM) is an advanced post‐processing technique in magnetic resonance imaging that offers precise measurements of tissue magnetic susceptibility with impressive spatial resolution and sensitivity. This review examines the potential of QSM as a biomarker for early detection and monitoring of amyotrophic lateral sclerosis (ALS). Since 2015, studies have consistently reported increased QSM values in the motor regions of individuals with ALS, indicating significant iron deposition. Iron accumulation is associated with dysfunction of the upper motor neurons and faster disease progression. Notably, increased QSM values were also observed in the critical subcortical areas responsible for motor function and cognitive control. However, standardizing optimized protocols, including background field removal algorithms, phase unwrapping approaches, and methods for final susceptibility map reconstruction, has the potential to enhance the consistency and reliability of QSM as an ALS biomarker. Overall, the current body of evidence strongly supports QSM in detecting iron dysregulation associated with neurodegeneration in both motor and extra‐motor regions in ALS. Furthermore, QSM's remarkable sensitivity to early pathological iron changes and its high specificity in distinguishing ALS positions make it a promising diagnostic and progression‐tracking biomarker.

Abstract Introduction Gastric cancer (GC), as a highly lethal malignancy, is the fourth most common malignancy and the second leading cause of cancer-related death worldwide. This study is an umbrella review of systematic reviews and meta-analyses to present an overview of the extent and reliability of the claimed association between physical activity and the likelihood of developing or dying from GC. Method This study was conducted following the Joanna Brigs Institute (JBI)’s methods for conducting umbrella reviews. A systematic search was performed in PubMed, Scopus, Web of Science, and ProQuest databases until July, 2024 with predefined keywords. Two independent authors assessed the Risk of Bias in included studies using the JBI critical appraisal tool for the assessment of the quality of systematic reviews and disagreements between the authors were resolved through discussion or the opinion of another author. Result Five systematic reviews were included in this analysis, offering a more comprehensive understanding of the inverse relationship between physical activity and gastric cancer risk. Compared to previous studies, this review provides stronger evidence that moderate-to-high levels of physical activity significantly reduce the overall risk of developing gastric cancer. Conclusion While a link between physical activity and reduced cancer risk is promising, further research is crucial to unravel the specific mechanisms at play and to quantify the impact of increased activity levels on cancer prevention. Based on the findings of this study, physical activity is found to be associated with a decreased risk of GC; however, the limitation of the evidence suggested a need for future studies on this topic.

Abstract Introduction Fear-avoidance beliefs (FAB) play a crucial role in the treatment outcomes of post-surgery patients. These beliefs can lead to activity avoidance, increased pain, and decreased quality of life. Therefore, accurately measuring these beliefs in Iranian patients is of significant importance. The Fear-Avoidance Belief Questionnaire (FABQ) is a patient-reported questionnaire that evaluates individuals’ FAB. Since the validity and reliability of the Persian version of FABQ (FABQ-P) have not been assessed based on the Iranian population and sociocultural contexts, the current study has been implemented to determine the reliability and validity of the FABQ-P among Iranian post-operative patients by translation and psychometric properties. Methods This methodological study conducted in 2023, a sample of 400 patients who had undergone surgery were selected using a convenience sampling method. The scale used in the study was translated and its psychometric properties were evaluated through network analysis and assessments of construct validity (including exploratory and confirmatory factor analysis), convergent validity, and discriminant validity. Additionally, the study assessed the internal consistency of the scale. Results The MLEFA results with Promax and Kaiser Normalization rotation yielded two factors explaining 57.91% of the variance, encompassing 13 items. Also, the model was approved by CFA. Convergent and discriminant validity have been confirmed through the following criteria: Average Variance Extracted (AVE) exceeding 0.5, Composite Reliability (CR) surpassing 0.7, and Heterotrait-Monotrait Ratio of Correlations (HTMT) equating to 0.597. As for reliability, Cronbach’s alpha, composite reliability (CR), and MaxR for all constructs were greater than 0.7, demonstrating good internal consistency. Conclusion As demonstrated by the results, the FABQ-P has a satisfactory level of reliability along with authentic validity according to the sociocultural contexts of Iranian post-operative patients.

Porosity plays a crucial role in both natural and man-made materials, serving as a fundamental microstructural characteristic that has a significant impact on their physical properties. Soils and rocks in nature are porous materials that are usually saturated with different fluids such as water, oil and gas. Therefore, it is very important to investigate the properties of porous materials and a better understanding of porous materials properties can lead to progress in oil, mining, and civil industries. In this research, porous samples with different porosity percentages were made and analyzed. The laboratory generation of actual porosity within the rock-like material samples was one of a significant aspect of this research. 5 groups of samples with different percentage of porosities were prepared including: 20%, 15%, 10%, 5%, 2% porosity and classified in 5 groups of A, B, C, D and E, respectively. Various experimental tests were performed with loading rate .5 MPa per second on the samples and the mechanical parameters of the samples were determined. These experiments show that the uniaxial compression and tensile strengths and elastic modulus of the rock-like specimens decrease with increasing their porosity. The mechanical parameters' maximum values were associated with group E samples (with 2-3% porosity). This group demonstrated a strength of approximately 34 MPa, an elastic modulus of 36 GPa, and a tensile strength of 7.3 MPa. The minimum values were observed in group A (with 20% porosity), which exhibited a strength of approximately 13 MPa, an elastic modulus of 16 GPa, and a tensile strength of 2.7 MPa. The study also investigated the Poisson’s ratio. The results indicate that Poisson's ratio increases with increasing porosity. The maximum Poisson's ratio was found in group A, which had 20% porosity and 11% Poisson's ratio, while the minimum value was found in group E, which had 2-3% porosity and 26% Poisson's ratio. the result show that Porosity has the greatest effect on the tensile strength parameter, which can change the tensile strength by 270% with a 20% change.

The problems of epileptic EFL learners are more serious than those of normal learners. Mostly, in the context of language learning, they perform weakly in productive and verbal skills. This study investigated whether a social, meta-cognitive, and problem-solving skills training package affects foreign language anxiety, and vocabulary learning of epileptic EFL learners. The participants were selected through purposive sampling from among those referring to the Long Term Video EEG Monitoring Center in Kerman. To collect the data, the FL Anxiety Scale, TOEFL Vocabulary Test, Quick Placement Test, and the Social, Meta-cognitive, and Problem-solving Skills Training Package were recruited. To analyze the data, descriptive statistics, and ANCOVA were run. The findings of the study showed that the effectiveness of the mentioned training package on Iranian epileptic EFL learners’ FL anxiety and vocabulary learning in online was more effective than in the traditional context. The results have implications for the epileptic EFL learners and EFL teachers.

Background: Learning English is crucial for students, particularly for developing a second language (L2). This investigation seeks to determine the influence of video-based learning on the pragmatic motivation of medical students. Methods: This study conducted an educational intervention using pre- and post-test procedures to compare the impact of two different English teaching methods, including video-based learning (intervention) and the routine method (standard pedagogical materials), on pragmatic development and general and specific pragmatic motivation. The study involved 54 medical students from Kerman University of Medical Sciences over an academic term from October 2021 to February 2022. Participants were selected using convenience sampling from two classes and then randomly assigned to intervention and control groups. A Discourse Completion Task (DCT), alongside the General Pragmatic Motivation Questionnaire (GPMQ) and Speech-Act-Specific Motivation Questionnaire (SASMQ), was used as the instrument for data gathering. Analysis was carried out using SPSS version 24, with statistical significance set at a P-value less than 0.05.Results: Out of the 54 participants, 22 (40.74%) were male, and 32 (59.26%) were female, with a mean age of 21.5±1.5 years, ranging from 18 to 24 years. While no significant differences were noted in the groups’ pre-test scores (P>0.05), the post-test outcomes revealed significant improvements in the intervention group across three components: pragmatic development (P

ABSTRACT Background/Objectives This systematic review and meta‐analysis aimed to investigate the role of magnetic susceptibility (χ) in deep gray matter (DGM) structures, including the putamen (PUT), globus pallidus (GP), caudate nucleus (CN), and thalamus, in the most common types of multiple sclerosis (MS) and relapsing‐remitting MS (RRMS), using quantitative susceptibility mapping (QSM). Methods The literature was systematically reviewed up to November 2023, adhering to PRISMA guidelines. This study was conducted using a random‐effects model to calculate the standardized mean difference (SMD) in QSM values between patients with RRMS and healthy controls (HCs). Publication bias and risk of bias were also assessed. Results Nine studies involving 1074 RRMS patients with RRMS and 640 HCs were included in the meta‐analysis. The results showed significantly higher QSM (χ) values in the PUT (SMD = 0.40, 95% confidence interval [CI] = 0.22–0.59, p = .000), GP (SMD = 0.60, 95% CI = 0.50–0.70, p = .00), and CN (SMD = 0.40, 95% CI = 0.15–0.66, p = .005) of RRMS patients compared to HCs. However, there were no significant differences in the QSM values in the thalamus between patients with RRMS and HCs (SMD = −0.33, 95% CI −0.67–0.01, p = .026). Age‐ and sex‐based subgroup analysis demonstrated that younger patients ( 25%) in the PUT and GP groups had more significant χ. Interestingly, thalamic QSM values were found to decrease in RRMS patients over 40 years of age and in higher male populations. Sex‐based subgroup analysis indicated higher iron levels in the PUT and GP of RRMS patients regardless of sex. QSM values were higher in certain brain regions (PUT, GP, and CN) during the early stages (disease duration 9.6 years) than HCs. Discussion/Conclusion QSM may serve as a biomarker for understanding χ value alterations such as iron dysregulation and its contribution to neurodegeneration in RRMS, especially in the basal ganglia nuclei including PUT, GP, and CN.

Background G6PD (glucose‐6‐phosphate‐dehydrogenase) is a key enzyme in the glycolytic pathway and has been implicated in the pathogenesis of cancer and pulmonary hypertension‐associated vascular remodeling. Here, we investigated the role of an X‐linked G6pd mutation (N126D polymorphism), which is known to increase the risk of cardiovascular disease in individuals from sub‐Saharan Africa and many others with African ancestry, in the pathogenesis of pulmonary hypertension induced by a vascular endothelial cell growth factor receptor blocker used for treating cancer. Methods and Results CRISPR‐Cas9 genome editing was used to generate the G6pd variant (N126D; G6pdN126D) in rats. A single dose of the vascular endothelial cell growth factor receptor blocker sugen‐5416 (SU; 20 mg/kg in DMSO), which is currently in a Phase 2/3 clinical trial for cancer treatment, was subcutaneously injected into G6pdN126D rats and their wild‐type littermates. After 8 weeks of normoxic conditions, right ventricular pressure and hypertrophy, pulmonary artery remodeling, the metabolic profile, and cytokine expression were assessed. Right ventricular pressure and pulmonary arterial wall thickness were increased in G6PDN126D+SU/normoxic rats. Simultaneously, levels of oxidized glutathione, inositol triphosphate, and intracellular Ca2+ were increased in the lungs of G6PDN126D+SU/normoxic rats, whereas nitric oxide was decreased. Also increased in G6PDN126D+SU/normoxic rats were pulmonary levels of plasminogen activator inhibitor‐1, thrombin‐antithrombin complex, and expression of proinflammatory cytokines CCL3 (chemokine [C‐C motif] ligand), CCL5, and CCL7. Conclusions Our results suggest G6PDN126D increases inositol triphosphate‐Ca2+ signaling, inflammation, thrombosis, and hypertrophic pulmonary artery remodeling in SU‐treated rats. This suggests an increased risk of vascular endothelial cell growth factor receptor blocker‐induced pulmonary hypertension in those carrying this G6PD variant.

Abstract Coronavirus disease (COVID‐19) has been shown to impact the central nervous system, leading to various neurological complications. Arterial spin labeling (ASL), a non‐invasive magnetic resonance imaging technique, enables the measurement of cerebral blood flow and perfusion abnormalities. This systematic review aims to synthesize ASL findings in patients with COVID‐19 and assess the potential role of ASL in diagnosing and managing neurological complications. A comprehensive search was conducted on PubMed and Scopus for studies related to ASL in individuals with COVID‐19 or post‐COVID‐19 syndrome published between December 2019 and August 2024. Extracted data encompassed study characteristics, ASL protocols, cognitive assessments, and principal findings. The most consistent observation across studies was hypoperfusion detected in various brain regions, particularly within the frontal lobes, which may correlate with cognitive impairment and olfactory dysfunction. Additionally, some investigations reported hyperperfusion localized to the leptomeninges. These results may reflect underlying mechanisms such as hypoxic–ischemic injury, inflammation, vascular dysfunction, and neuronal damage attributable to COVID‐19. In conclusion, ASL has emerged as a valuable tool for evaluating brain perfusion among patients affected by or recovering from COVID‐19 since it offers critical insights into cerebral hemodynamics and metabolism. Further research is warranted to validate these ASL findings and elucidate whether post‐COVID‐19 syndrome contributes to persistent brain perfusion issues.

Within the field of conflict and violence studies, there exists a range of subtle yet profound forms of violence that often remain underexplored. This paper addresses the concept of semiocide, which refers to the destruction of culturally significant signs, stories, symbols, and narratives. Through unpacking of the theoretical foundations of semiocide, the study highlights its distinct nature and potential for further exploration in cultural violence and conflict studies. Utilizing content analysis of various media sources, the study examines the semiocidal practices perpetrated against the Baha’i community in Iran. The findings illustrate the systematic erasure and manipulation of the Baha’i cultural identity through three semiocidal mechanisms. These insights shed light on the complex dynamics of cultural violence, not only within the specific context of Iran but also providing valuable implications for understanding similar phenomena in other socio-cultural contexts. By bridging the gap between theory and practice, this study offers a nuanced discussion of semiocide, contributing to a broader comprehension of cultural violence and cultural hegemony, and thereby enriching the discourse in conflict and violence studies.

This study aimed to investigate the catalytic performance of H-ZSM-5 zeolite compared with physically mixed and sequentially used synthesized γ-alumina and zeolite in the methanol-to-propylene (MTP) reaction. A facile, green and cost-effective method was first applied to prepare a mesoporous γ-Al2O3 support using a combination of sol–gel and hydrothermal methods via a few consecutive steps. This process was carried out using aluminium nitrate and polyethylene glycol with different molecular weights as non-ionic surfactants. X-ray diffraction, transmission electon microscopy, thermogravimetric analysis, ammonia temperature programmed desorption and Brunauer–Emmett–Teller analysis were then used to characterize the prepared γ-Al2O3 catalyst. Afterwards, the catalytic activity of the commercial H-ZSM-5 zeolite (Si/Al = 200) and the effect of the presence of the γ-alumina physically mixed and unmixed with the zeolite were also researched in the MTP reaction. Accordingly, methanol conversion and product selectivity were monitored via gas chromatography. The physically mixed mesoporous γ-Al2O3 and H-ZSM-5 zeolite exhibited the highest catalytic activity in terms of both conversion and selectivity at 400°C. To our knowledge, this research represents the first documented use of γ-alumina and zeolite simultaneously as catalysts in the MTP reaction within the English literature. It is hoped that this work will offer valuable insights for advancing the development of catalytic systems in methanol conversion processes.

BackgroundRight anterior mini thoracotomy (RAMT) for aortic valve replacement (AVR) is a minimally invasive procedure that avoids sternotomy. Herein, we report the outcomes of patients who underwent redo-cardiac via a RAMT approach for AVR.MethodsThis case series reports the clinical outcomes of 14 consecutive redo operations, done in Calgary (Canada) and Gdansk (Poland) between 2020 and 2023. Primary outcomes were 30-day mortality and disabling stroke. Secondary outcomes included surgical times, hemodynamics, permanent pacemaker implantation (PPM), length of ICU and hospital stay, new post-operative atrial fibrillation (POAF), post-operative blood transfusion, incidence of acute respiratory distress syndrome (ARDS), rate of continuous renal replacement therapy (CRRT) and/or dialysis, and chest tube output in the first 12-hours after surgery.ResultsNine patients were male, and the mean age was 64.36 years. There were no deaths, while one patient had a disabling stroke postoperatively. Mean cardiopulmonary bypass and cross clamp-times were 136 min and 90 min, respectively. Three patients needed a PPM, 3 patients needed blood transfusions, and 2 developed new onset POAF. Median lengths of ICU and hospital stays were 2 and 12 days, respectively. There was no incidence of paravalvular leak greater than trace and the average transvalvular mean gradient was 12.23 mmHg.ConclusionThe number of patients requiring redo-AVR is increasing. Redo-sternotomy may not be feasible for many patients. This study suggests that the RAMT approach is a safe alternative to redo-sternotomy for patients that require an AVR.

Abstract Next-generation sequencing (NGS) has been proven to be one of the most powerful diagnostic tools for rare Mendelian disorders. Several studies on the clinical application of NGS in unselected cohorts of Middle Eastern patients have reported a high diagnostic yield of up to 48%, correlated with a high level of consanguinity in these populations. We evaluated the diagnostic utility of NGS-based testing across different clinical indications in 1436 patients from Iran, representing the first study of its kind in this highly consanguineous population. A total of 1075 exome sequencing and 361 targeted gene panel sequencing were performed over 8 years at a single clinical genetics laboratory, with the majority of cases tested as proband-only (91.6%). The overall diagnostic rate was 46.7%, ranging from 24% in patients with an abnormality of prenatal development to over 67% in patients with an abnormality of the skin. We identified 660 pathogenic or likely pathogenic variants, including 241 novel variants, associated with over 342 known genetic conditions. The highly consanguineous nature of this cohort led to the diagnosis of autosomal recessive disorders in the majority of patients (79.1%) and allowed us to determine the shared carrier status of couples for suspected recessive phenotypes in their deceased child(ren) when direct testing was not possible. We also highlight the observations of recessive inheritance of genes previously associated only with dominant disorders and provide an expanded genotype–phenotype spectrum for multiple less-characterized genes. We present the largest mutational spectrum of known Mendelian disease, including possible founder variants, throughout the Iranian population, which can serve as a unique resource for clinical genomic studies locally and beyond.