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Background: Malaria can infect erythrocytes and hence cause different pathogenesis episodes leading to death mostly in pregnant women and children under the age of 5 years. The selective pressure of these parasites leads to the production of new human genetic diseases. The most prevalent genetic alterations in the human genome are thalassemia and hemoglobinopathies (Hb E, Hb S), which are recognized throughout the world, including Saudi Arabia. Methods: From May 2018 to August 2019, 13972 Saudi citizens from King Fahd Central Hospital and premarital facilities in the Saudi Arabian province of Jazan participated in this study. This study aims to compare the prevalence of Hb E and other hemoglobinopathies in positive versus negative cases of malaria. So, CBC, malaria test, Hb-electrophoresis, and molecular study were investigated. Result: For thalassemias and Hb disorders, 36% with abnormal Hb (47% of them) carried Hb S in their blood, 37% with α-thalassemia, 11% for β-thalassemia and 4% of Hb E. Significant variations in CBC parameters were observed in Hb E patients. There was significant decrease in MCV, MCH and MCHC and slightly increase in WBCs, RBCs, RDW and PLT as compared to controls. [ABSTRACT FROM AUTHOR]

For knowledge acquisition and social engagement, reading comprehension is essential. However, 20% or so of younger students have trouble with it. In order to predict the effects of consanguineous marriage on reading handicap and customize adaptive learning experiences, the study proposes an Intelligent Adaptive Learning and Prediction Framework (IALPF). This framework is proposed as a transformative solution that smoothly combines cutting-edge AI approaches. IALPF provides precise predictions and individualized learning pathways by utilizing extensive cognitive profiling, data gathering, and hybrid neural network design. It includes early warning systems, flexible content distribution, and ongoing development based on active learning and feedback loops. The IALPF represents a significant change in education that has wide-ranging effects. We evaluated reading skills among 770 students in a study that included two experimental groups, a control group, and 22 pupils from first-cousin marriages and 21 children of unrelated parents, respectively. Tests were given for word identification and reading comprehension, among other things. The findings showed that children of first cousin parents had a higher chance of reading difficulties than those of parents from other families. The outstanding performance of IALPF, which outperformed conventional techniques like Back Propagation (BP) and General Regression Neural Network (GRNN), was further supported by empirical evaluation. This demonstrates IALPF's success in reinventing personalized learning and predictive analysis, strengthening its potential to improve education in a variety of scenarios. The seamless integration of cutting-edge AI methods into IALPF, which forecasts the effect of consanguineous marriage on reading handicap, is a significant innovation. To set it apart from conventional approaches, this special framework integrates cognitive profile, information gathering, and hybrid neural networks for accurate predictions. The empirical analysis demonstrates the revolutionary potential of IALPF by demonstrating its improved predictive accuracy when compared to Back Propagation (BP) and General Regression Neural Network (GRNN). [ABSTRACT FROM AUTHOR]

Background: Autosomal recessive primary microcephaly (MCPH) is a rare neurodevelopmental disorder characterized primarily by congenital microcephaly and intellectual disability but without extra-central nervous system malformations. This investigation aimed to elucidate the genetic underpinnings of microcephaly in a patient from a Chinese consanguineous family. Methods: A comprehensive clinical assessment, including brain magnetic resonance imaging (MRI), electroencephalogram (EEG), and genetic analyses, was conducted to evaluate the patient's condition. Whole-exome sequencing (WES) was employed to identify the causative gene, followed by Sanger sequencing, to confirm the mutation and its segregation within the family. Reverse transcript polymerase chain reaction (RT-PCR) was utilized to detect changes in splicing. Western blot was employed to reveal the difference of protein expression level between the wild-type and mutant WDR62 in vitro. Results: The patient exhibited classic MCPH symptoms, including microcephaly, recurrent epilepsy, delayed psychomotor development, and intellectual disability. Additionally, asymmetrical limb length was noted as a prominent feature. MRI findings indicated reduced brain volume with cortical malformations, while EEG demonstrated heightened sharp wave activity. A molecular analysis uncovered a novel homozygous variant c.4154-6 C > G in the WDR62 intron, and a functional analysis confirmed the pathogenicity of this mutation, resulting in the formation of an abnormal transcript with premature termination codons. Conclusion: This study enhances our understanding of the genetic heterogeneity associated with MCPH and highlights the pivotal role of genetic testing in the diagnosing and managing of rare neurodevelopmental disorders. Furthermore, it highlights the potential of emerging genetic therapies in treating conditions such as MCPH2. [ABSTRACT FROM AUTHOR]

Ammar Abdulrahman Jairoun,1,2 Sabaa Saleh Al-Hemyari,2,3 Moyad Shahwan,4,5 Hidayah Karuniawati,6,7 Samer H Zyoud,4,8– 10 Eman Abu-Gharbieh,11 Sa’ed H Zyoud,12,13 Mena Al-Ani,14 Mustafa Habeb,15 Maimona Jairoun5 1Health and Safety Department, Dubai Municipality, Dubai, United Arab Emirates; 2Discipline of Clinical Pharmacy, School of Pharmaceutical Sciences, Universiti Sains Malaysia (USM), Pulau Pinang, 11800, Malaysia; 3Pharmacy Department, Emirates Health Services, Dubai, United Arab Emirates; 4Centre of Medical and Bio-Allied Health Sciences Research, Ajman University, Ajman, 346, United Arab Emirates; 5Department of Clinical Sciences, College of Pharmacy and Health Sciences, Ajman University, Ajman, 346, United Arab Emirates; 6Discipline of Social and Administrative Pharmacy, School of Pharmaceutical Sciences, Universiti Sains Malaysia (USM), Pulau Pinang, 11800, Malaysia; 7Department of Pharmacology and Clinical Pharmacy, Faculty of Pharmacy, Universitas Muhammadiyah Surakarta, Surakarta, 57102, Indonesia; 8Department of Mathematics and Sciences, Ajman University, Ajman, United Arab Emirates; 9Nonlinear Dynamics Research Center (NDRC), Ajman University, Ajman, United Arab Emirates; 10School of Physics, Universiti Sains Malaysia (USM), Penang, 11800, Malaysia; 11Department of Clinical Sciences, College of Medicine, University of Sharjah, Sharjah, 27272, United Arab Emirates; 12Department of Clinical and Community Pharmacy, College of Medicine and Health Sciences, An-Najah National University, Nablus, 44839, Palestine; 13Clinical Research Centre, An-Najah National University Hospital, Nablus, 44839, Palestine; 14Developmental Biology & Cancer Department, University College London, UCL Great Ormond Street Institute of Child Health, London, UK; 15Edgware Community Hospital Barnet, Enfield and Haringey Mental Health NHS Trust, London, UKCorrespondence: Ammar Abdulrahman Jairoun; Moyad Shahwan, Tel +971558099957; 9716 705 6249, Email Dr_ammar_91_@hotmail.com; moyad76@hotmail.comBackground: Several studies indicate a correlation between consanguinity and genetic disorders, congenital malformations, harm to reproductive health, and increased child mortality.Objective: To assess students’ knowledge and attitudes about risks and prevention of consanguineous marriage.Methods: Demographic details of the participants and data on knowledge and attitudes concerning the risks and prevention of consanguineous marriage were obtained using an online self-administered questionnaire. The factors associated with good knowledge and attitude toward consanguineous marriage were investigated by logistic regression analysis.Results: A total of 667 participants enrolled in the study. The average knowledge score about consanguineous marriage risk and prevention was 78.6% with a 95% confidence interval (CI) [77.3, 79.8], and the average attitude was 79.7% with a 95% confidence interval (CI) [79, 80.6]. A better knowledge score was observed in older participants (OR 1.01; 95% CI 1.004– 1.024), females (OR 1.69; 95% CI 1.48– 1.94), participants with parental history of consanguinity (OR 1.33; 95% CI 1.17– 1.52), participants with family history of consanguineous marriage (OR 5.18; 95% CI 2.19– 7.10), and participants with family history of inherited disease (OR 1.52; 95% CI 1.25– 1.86).Conclusion: In general, the overall level of knowledge and attitudes toward consanguineous marriage risk and prevention was good among university students. To efficiently control and manage the adverse health impacts associated with consanguineous marriage, there is an urgent need to develop and implement evidence-based counseling and screening programs for consanguineous marriage that would significantly reduce the number of at-risk marriages.Keywords: consanguineous marriage, knowledge, attitude, perception, consanguineous marriage risk, prevention, university students

Abstract Background PGT-A has become an important part of IVF treatments. Despite its increased use, there are contradicting results on its role in improving reproductive outcomes of ART cycles. Given that aneuploidy is a main limiting factor for IVF success, we aimed to study the predictive factors of aneuploidy in infertile patients undergoing IVF and hence highlight the patients who would benefit the most from genetic testing. Results A retrospective analysis of 1242 blastocysts biopsied in the setting of PGT-A cycles was performed. The euploid group included 703 embryos, while the aneuploid group had 539 embryos. The factors included in the analyses were the couple’s history as well as the embryo characteristics. The primary outcome was the rate of aneuploid embryos per patient’s history as well as per embryo characteristics. The aneuploidy rate (AR) in our cohort was 43.4%. The woman’s age was found to be a significant predictor (OR 1.045, 95% CI 1.008–1.084, p = 0.016). Biopsy on day 5 as well as degree of expansion 3 was also found to affect significantly (OR 0.724, 95% CI .541–.970, p = 0.03 and OR 2.645, 95% CI 1.252–5.585, p = 0.011). Lack of consanguinity decreased the AR by an OR 0.274 with 95% CI .137–.547, p

Background: PGT-A has become an important part of IVF treatments. Despite its increased use, there are contradicting results on its role in improving reproductive outcomes of ART cycles. Given that aneuploidy is a main limiting factor for IVF success, we aimed to study the predictive factors of aneuploidy in infertile patients undergoing IVF and hence highlight the patients who would benefit the most from genetic testing. Results: A retrospective analysis of 1242 blastocysts biopsied in the setting of PGT-A cycles was performed. The euploid group included 703 embryos, while the aneuploid group had 539 embryos. The factors included in the analyses were the couple's history as well as the embryo characteristics. The primary outcome was the rate of aneuploid embryos per patient's history as well as per embryo characteristics. The aneuploidy rate (AR) in our cohort was 43.4%. The woman's age was found to be a significant predictor (OR 1.045, 95% CI 1.008–1.084, p = 0.016). Biopsy on day 5 as well as degree of expansion 3 was also found to affect significantly (OR 0.724, 95% CI.541–.970, p = 0.03 and OR 2.645, 95% CI 1.252–5.585, p = 0.011). Lack of consanguinity decreased the AR by an OR 0.274 with 95% CI.137–.547, p < 0.001. The number of blastocysts available, trophectoderm quality, embryo grade, gonadotropins as well as trigger used were not found to be significant predictors (p = 0.495, 0.649, 0.264, 0.717 and 0.659 respectively). Conclusion: Advanced female age, consanguinity, the day of embryo biopsy, and the degree of blastocyst expansion were all found to affect the incidence of AR. The age of the male partner, cause of infertility, and grade of embryo at biopsy were not found to correlate with aneuploidy. [ABSTRACT FROM AUTHOR]

IntroductionPremarital screening (PMS) is an essential global measure that seeks to reduce the occurrence of specific genetic disorders and sexually transmitted diseases common in consanguineous marriages. Due to the lack of a nationwide study, this research was designed to comprehend how unmarried individuals perceive the risks and benefits of PMS.MethodA cross-sectional study was conducted using an online questionnaire distributed through different social media platforms, responses from the native adult population (18–49 years) Saudi Arabia was only included in the study. The questionnaire was based on the Health Belief Model (HBM) to assessing seven different constructs including susceptibility, seriousness, benefits-, barriers-, & cues- to action, self-efficacy, and social acceptance. Data frequency was represented by mean and standard deviation; chi-square and t-tests were conducted for the comparison of independent and dependent variables. A multinomial logistic regression was used to predict factors influencing decisions related to PMS.Results1,522 participants completed the survey, mostly 18–25 years old and most of them were women. The majority were single with 85 men and 1,370 women. Most participants (59.6%) believed their parents were related, while 40.5% did not. 122 respondents reported they had to marry within their tribe. Findings revealed significant correlations among all HBM themes, with varying strengths. Notably, a moderate positive relationship was found between the perception of benefits and cues to action, suggesting that enhancing the perceived benefits of PMS could facilitate safe marriage practices. Multinomial regression analysis revealed that demographic factors and health beliefs significantly influence individuals’ intentions and behaviors toward PMS and safe marriage.ConclusionThe study concludes that by identifying and addressing barriers, and promoting positive social acceptance, PMS can significantly contribute to preventing genetic diseases and promoting safe marriage practices, although the cross-sectional design limits the establishment of causal relationships and further research is needed.

Background: Pediatric urinary stone disease (USD) is a costly medical problem. This study aims to assess the clinical characteristics and outcomes of common and rare causes of pediatric USD. Methods: A retrospective descriptive cohort study included all children < 13 years of age with confirmed USD admitted to the Children's University Hospital in Damascus, Syria, from January 2013 to December 2019. The study sample was divided into two groups based on etiologies: common and rare causes groups. Results: We evaluated 235 patients; 147 of them were males, and the male-to-female ratio was 1.7:1. The common causes group consisted of 203 patients (mean age 3.52 ± 3.66 years) and mainly included metabolic disorders (45.5%) and anatomical abnormalities (22.3%), while the rare causes group included 32 cases (mean age 4.93 ± 4.08 years), 12 patients with uric acid stones (37.5%), 7 patients with cystinuria (21.9%), and primary hyperoxaluria in 5 patients (15.6%). In addition, 39.6% of study patients were born to consanguineous marriages. Sixty-two patients developed AKI, and eleven patients had chronic kidney disease (CKD). Patients with rare causes were more likely to have AKI, CKD, bilateral stones, and recurrent stones (P-value < 0.05). Stone analysis was performed on 83 patients, and the main stone types were calcium oxalate (34.9%), uric acid (14.4%), and struvite stones (12%). Surgery was the most performed treatment in 101 patients (56.7%). Conclusion: Patients with rare causes of pediatric USD are at a higher risk for severe complications and require early diagnosis and management. The high rate of uric acid stones in our society requires further evaluation for possible underlying causes. [ABSTRACT FROM AUTHOR]

Introduction: The occurrence of consanguineous marriages has been common in the Arab populations due to socio-cultural factors. Genetic diseases are rare in the overall population, but their frequency unusually increases as the prevalence of consanguineous marriages increases. The aim of our pilot study was to investigate the extent of consanguinity and its effects on non-communicable genetic diseases, in Emirati population. Methodology: This research was based on a socio-economic survey (SES) conducted by a group of students of Dubai Pharmacy College for Girls in the year 2018. Subjects for this preliminary study were selected by using convenience sampling method from urban regions of United Arab Emirates local households. A questionnaire was designed for this purpose and data was collected during household visits. Results: Our study showed that the incidence of consanguinity is relatively high with a rate of about 65% approximately and 33% of all these consanguineous marriages are of the first cousin and closer marriage type. Our results states that consanguineous marriages have a negative effect on reproductive health factors and in turn posing a risk for occurrence of noncommunicable genetic diseases, congenital malformations, and various chronic and complex multifactorial diseases in Emirati Arab population. Discussion: Genetic counselling and premarital counselling must be accentuated to reduce the risk of genetic syndromes in the population. [ABSTRACT FROM AUTHOR]

BackgroundHereditary blood diseases are widespread among the Arab population due to the high rates of consanguineous marriages; research regarding the perception of consanguineous marriage in some countries, such as Qatar, is extremely scarce. Therefore, this study aimed to investigate the prevalence of consanguineous marriage and assess the perception of consanguineous marriage among the Qatari population.MethodsA cross-sectional study used a self-administered questionnaire among 395 Qatari adults aged 18–35 who attended primary healthcare institutions in Qatar. A convenience sampling technique was used to select the study participants. An independent t-test was used to compare the significance of the mean between the two groups with positive and negative perceptions of consanguineous marriage. Categorical data were analyzed for association using the chi-square or Fisher's exact test. Finally, a multiple logistic regression analysis was conducted to determine the significant predictors of the positive perception of consanguineous marriage. A significant level was set at p < 0.05.ResultsApproximately 45% of the participants had a positive perception toward consanguineous marriage, and the most common reason stated by those participants was “habit and traditions.” The prevalence of consanguineous marriage among married couples was 62.6%, and among those with consanguineous marriage, most were married to first cousins (81.7%). Moreover, compared to the participants with negative perceptions of consanguineous marriage, those with positive ones were significantly older, married, with lower educational levels and higher monthly income levels, did not hear about glucose-6-phosphate dehydrogenase (G6PD) deficiency, did not know what kinds of diseases are being screened in the premarital test, and were married to a relative.ConclusionThe prevalence of consanguineous marriage is high among the Qatari population, and this requires an immediate need for community-based campaigns to raise public awareness about the problem and its potential impact.

The Tehran cardiometabolic genetic study (TCGS) is a large population-based cohort study that conducts periodic follow-ups. TCGS has created a comprehensive database comprising 20,367 participants born between 1911 and 2015 selected from four main ongoing studies in a family-based longitudinal framework. The study's primary goal is to identify the potential targets for prevention and intervention for non-communicable diseases that may develop in mid-life and late life. TCGS cohort focuses on cardiovascular, endocrine, metabolic abnormalities, cancers, and some inherited diseases. Since 2017, the TCGS cohort has augmented by encoding all health-related complications, including hospitalization outcomes and self-reports according to ICD11 coding, and verifying consanguineous marriage using genetic markers. This research provides an update on the rationale and design of the study, summarizes its findings, and outlines the objectives for precision medicine. [ABSTRACT FROM AUTHOR]

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This study investigated people's knowledge of genetics, attitudes toward genetic testing, and views on consanguinity. This cross-sectional study utilized a validated questionnaire modified from published studies to collect data on people's knowledge of genetics and attitudes about genetic testing among 1008 respondents from various Saudi Arabian regions. Using SPSS software version 26, data were analyzed using a t-test, ANOVA, and multivariate analysis. p-values of <0.05 were considered statistically significant. About 59.9% of the participants had sufficient knowledge of genetics, and around 50% had a favorable attitude toward genetic testing. Knowledge of genetics is significantly correlated (p ≤ 0.001) with a positive attitude toward genetic testing. Gender, age, level of education, marital status, family income, and family history were significantly correlated with respondents' understanding of genetics. Gender, family income, residence, and family history were associated with attitudes toward genetic testing at a 0.05 level of significance. There is a need to strengthen peoples' knowledge of genetics and attitudes toward genetic testing through diverse educational programs and healthcare strategies. Impetus on how to disseminate genetic information on consanguinity and transmission of diseases should be prioritized in regions where consanguineous marriages are high. [ABSTRACT FROM AUTHOR]

Objective: This study aimed to evaluate nonsyndromic developmental dental anomalies (DDAs) in individuals born from consanguineous and nonconsanguineous marriages and the possible effects of these marriages on self-reported systemic diseases. Methods: The study comprised a total of 880 patients aged 16 years or older who applied to our clinic for various dental problems. Based on detailed anamnesis, the patients were divided into 2 groups: individuals born from consanguineous (study group, n = 445) and nonconsanguineous (control group, n = 435) marriages. The parents’ consanguinity type was also recorded, as well as the presence of any self-reported systemic diseases. The number, size, erupted, and morphological DDA types were investigated with both clinical and radiological examinations. All data from the 2 groups were recorded, and a statistical analysis was performed. Results: There was a statistically significant relationship between the consanguineous marriage and the size (microdontia), and morphological (dilaceration and taurodontism) DDA types. Additionally, a significant relationship was found between consanguineous marriage and self-reported systemic disease but not between the parents’ consanguinity type and systemic disease. Conclusion: The results of this study suggest that consanguineous marriage affects DDAs.

Abstract Background Hereditary hearing loss (HHL) is a common heterogeneous disorder affecting all ages, ethnicities, and genders. The most common form of HHL is autosomal recessive non-syndromic hearing loss (ARNSHL), in which there is no genotype–phenotype correlation in the majority of cases. This study aimed to identify the genetic causes of hearing loss (HL) in a family with Iranian Azeri Turkish ethnicity negative for gap junction beta-2 (GJB2), gap junction beta-6 (GJB6), and mitochondrially encoded 12S rRNA (MT-RNR1) deleterious mutations. Methods Targeted genome sequencing method was applied to detect genetic causes of HL in the family. Sanger sequencing was employed to verify the segregation of the variant. Finally, we used bioinformatics tools and American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) guidelines to determine whether the detected variant might affect the corresponding protein or not. Results A novel homozygous missense mutation, c.499G>A (p.G167R), was identified in exon 5 of the ESRRB (estrogen-related receptor beta) gene. Healthy and affected family members confirmed the co-segregation of the variant with ARNSHL. Eventually, the variant's pathogenicity was confirmed by the in silico analysis and the ACMG/AMP guidelines. Conclusion The study suggests that the detected variant, c.499G>A, plays a crucial role in the development of ARNSHL, emphasizing the clinical significance of the ESRRB gene in ARNSHL patients. Additionally, it would be helpful for genetic counseling and clinical management of ARNSHL patients and providing preventive opportunities.

Abstract Background Union between second cousins and closer relatives is called consanguineous marriage. Consanguineous marriage is associated with increased risk of autosomal recessive diseases and several multifactorial traits. In order to evaluate the association between prevalence/mortality of COVID-19 and the frequency of consanguineous marriage, the present ecologic study was carried out. For the present study, data of prevalence (per 106 people) and mortality (per 106 people) and number of performed laboratory diagnostic test (per 106 people) of COVID-19 disease at four time points (December 2020; March, August and October 2021) of 65 countries were used. Results Univariable correlation and generalized estimating equation analysis were used. In analysis, prevalence and mortality of COVID-19 were used as dependent variables and human development index, number of performed diagnosis test and the mean of inbreeding coefficient (α-value) were introduced into model as covariates, and time point was used as a factor in analysis. The square root (SR) of prevalence (P = 0.008) and SR-mortality (P

Background: Orofacial clefts (OFCs) are one of the most common congenital anomalies worldwide. The purpose of the present study is to identify the incidence of different types of OFCs and the presence of known risk factors among cleft cases in the Pakistani population. Patients and Methods: A retrospective study was conducted at a comprehensive cleft care center, and data were collected from patient files from December 2018 to July 2021. Only cases of cleft lip and/or cleft palate (CL/P) that presented to center were included. SPSS was used for data analysis, and risk factors associated with OFCs were identified. Results: The study included 1269 patients with CL/P. Of the total, 677 (53.3%) patients had cleft lip with cleft palate, 211 (16.6%) had cleft lip only, and 365 (28.7%) had cleft palate only. Bilateral complete cleft lip and palate (n = 276) was most common among the participants followed by midline incomplete cleft palate (n = 215). One hundred and six (8.3%) of the cases were syndromic, and among the remaining nonsyndromic cases, 240 (18.9%) had other associated anomalies. Chi-square tests revealed the following risk factors for CL/P: consanguinity among the parents (P < 0.001), a complication during pregnancy (P < 0.001), medication use during pregnancy (P < 0.001), maternal smoking or exposure to smoking (P = 0.002), history of miscarriage (P = 0.02), and positive family history (P < 0.001). Logistic regression analysis for these factors showed maternal smoking (odds ratio [OR]: 1.99), consanguineous marriage (OR: 1.89), complication during pregnancy (OR: 1.98), and positive history of cleft (OR: 1.9) to be increasing the odds of cleft development. Conclusion: While previous studies have shown many environmental factors to be associated with development of OFCs in the child, the present study provides a quantitative estimate of the risk posed by each individual factor in the Pakistani population.

Awareness regarding consanguineous marriage and other risk factors of infantile hearing loss is essential for prevention, early detection and timely intervention which can save deaf children from lifelong consequences of hearing disability. A pre-post study was done among the general population of Puducherry, India to evaluate the effect of health education on knowledge and behaviour towards consanguineous marriage and infantile hearing loss. Individual direct interviews were done using a questionnaire to assess their awareness about consanguineous marriage and other risk factors of infantile hearing loss, its early detection and intervention. The assessment was repeated after a health education given for the same by direct interaction and pamphlets. The study showed that 65% participants were unaware of consanguinity being a risk factor for congenital hearing loss. More than half of them were unaware of other risk factors, neonatal hearing screening and treatment. Only 35.3% were aware that early identification and intervention enables a deaf child to learn optimum speech and language. Prior to health education, 33.7% were in support of consanguineous marriage whereas, after the health education, only 6.7% supported it showing significant improvement in their attitude towards consanguineous marriage. Post health education, there was overwhelming 100% improvement in their knowledge regarding infantile hearing loss. The study shows the poor awareness among the population of Puducherry regarding consanguineous marriage and infantile hearing loss, thus requiring a widespread sensitization about infantile hearing loss which can prevent lifelong consequences of the hearing disability. [ABSTRACT FROM AUTHOR]

Copyright of Turkish Journal of Public Health is the property of Turkish Journal of Public Health and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

In Dunhuang Bianwen about Meng Jiangnu (孟盖女变文), there is narrative about Meng Jiangnu recognized her husband’s bones by dripping blood. Hong Yixuan and Gu Jiegang had questioned it but gotten no conclusion. Dunaghuang Bianwen about Meng Jiangnu (孟盖女变文) was written in the middle Tang Dynasty and was performed in Dunhuang area. There are many Sogdians in Dunhuang who believe in Zoroastrianism and Buddhism. Zoroastrianism advocates and practices consanguineous marriage between close relatives; therefore, the narrative of Meng Jiangnu’s recognition of her husband’s bones by dripping blood is most likely to be unconsciously revealed in the rap art described the consanguineous marriage of Sogdians in Dunhuang area. It is precisely because Meng Jiangnu and Qi Liang are blood-related marriages that the description of relative recognition by dripping blood can be carried out based on the medical knowledge at that time. The bone burial in the Bianwen confirms that Meng Jiangnu and Qi Liang are consanguineous marriage. Then Meng Jiangnu’s story of recognizing her husband’s bones by dripping blood is inured by erroneous reports. [ABSTRACT FROM AUTHOR]

Background: Consanguineous marriage (CM) has been linked to spontaneous abortion (SAB), although studies have largely been cross-sectional and likely underestimated early loss. We aimed to determine the relationships between CM and SAB in a prospective pregnancy cohort study in Telangana State, India. Methods: Data from 661 participants aged 15–35 years in the Longitudinal Indian Family hEalth (LIFE) study actively followed for pregnancy and pregnancy loss were analyzed. SAB was classified as early (< 8) or late (8–22) weeks gestation. We used logistic regression to model the relationships between CM, defined by first-cousin marriage, and SAB, adjusted for maternal age. Results: Women in CM were at a modestly increased risk of any (ORadj 1.15, 95% CI 0.69, 1.91) and early (ORadj 2.03, 95% CI 0.85, 4.83) SAB compared to women in non-CM, although results were not statistically significant. There was no relationship between CM and late SAB. Conclusion: Among couples in southern India, there was a modest increase in early but not late SAB among CMs which may be explained by the expected influence of chromosomal abnormalities and lethal homozygous recessive disease on early loss. Pre- and Peri-marital Health Counseling that addresses this risk may be warranted. [ABSTRACT FROM AUTHOR]

Background: Orofacial clefts (OFCs) are one of the most common congenital anomalies worldwide. The purpose of the present study is to identify the incidence of different types of OFCs and the presence of known risk factors among cleft cases in the Pakistani population. Patients and Methods: A retrospective study was conducted at a comprehensive cleft care center, and data were collected from patient files from December 2018 to July 2021. Only cases of cleft lip and/or cleft palate (CL/P) that presented to center were included. SPSS was used for data analysis, and risk factors associated with OFCs were identified. Results: The study included 1269 patients with CL/P. Of the total, 677 (53.3%) patients had cleft lip with cleft palate, 211 (16.6%) had cleft lip only, and 365 (28.7%) had cleft palate only. Bilateral complete cleft lip and palate (n = 276) was most common among the participants followed by midline incomplete cleft palate (n = 215). One hundred and six (8.3%) of the cases were syndromic, and among the remaining nonsyndromic cases, 240 (18.9%) had other associated anomalies. Chi.square tests revealed the following risk factors for CL/P: consanguinity among the parents (P < 0.001), a complication during pregnancy (P < 0.001), medication use during pregnancy (P < 0.001), maternal smoking or exposure to smoking (P = 0.002), history of miscarriage (P = 0.02), and positive family history (P < 0.001). Logistic regression analysis for these factors showed maternal smoking (odds ratio [OR]: 1.99), consanguineous marriage (OR: 1.89), complication during pregnancy (OR: 1.98), and positive history of cleft (OR: 1.9) to be increasing the odds of cleft development. Conclusion: While previous studies have shown many environmental factors to be associated with development of OFCs in the child, the present study provides a quantitative estimate of the risk posed by each individual factor in the Pakistani population. [ABSTRACT FROM AUTHOR]

Two sibling cases with a temperature-sensitive form of auditory neuropathy from a consanguineous marriage of Iranian descent have been described. They complained about the temporary loss of hearing and compromised speech comprehension after a slight fever or elevating the body temperature by vigorous exercises. A series of tests including brain MRI, pure-tone audiometry, speech audiometry in quiet and noise, tympanometry, reflexometry, TEOAEs, cochlear microphonic, and ABR were performed in a 24-hours interval at both febrile and afebrile states, and results are reported here. This report is the first example of temperature-sensitive auditory neuropathy in this geographical region.

Background and purpose: Hearing impairment as a heterogeneous disorder is the most common sensory defect. Genetic (hereditary) hearing loss involves 50% of total cases and the remaining 50% are non-hereditary cases caused by unknown causes. This study aimed to investigate the role of consanguineous marriage and the relationship between the type of deafness and the hereditary pattern in families with more than one deaf patient in Golestan province, Iran. Materials and methods: The study population included 165 families with deaf members whose files were available in the General Welfare Department of Golestan Province. They were randomly selected during 2018-2019. Data, including number of family members with hearing loss and severity of the condition were collected by face-to-face interviews with parents. Data analysis was done in SPSS. Results: The mean age of the subjects was 27.67±9.71. Female and male cases included 42.1% and 57.9%, respectively. In 85% of the cases, genetic factor and in 15% acquired factors were responsible for hearing loss. Among the genetic causes, 90.9% of the population were autosomal recessive and 9.1% were autosomal dominant. Moreover, 70% of families had consanguineous marriage and first-degree family relationship was seen in 92 families (80%). Conclusion: Genetic factor with the autosomal recessive inheritance pattern was the most common cause of hearing loss in the population studied. Increasing awareness about the consequences of consanguineous marriage and genetic counseling are indispensable in decreasing the rate of this condition.

Introduction: Beta-thalassemia is an autosomal recessive disease that occurs as a result of a disorder in the (β-globin chains synthesis), and the gold standard method for diagnosis is genetic mutation analysis. It is important to know the distribution of mutations according to regions and races. The aim of this study is to document the mutations in the beta-globin gene of beta-thalassemia major and intermedia patients who were followed and treated in Sanliurfa province, and to examine the relationships between these mutations by defining them according to gender, nationality, consanguineous marriage, history of disease in siblings and blood type.Methods: The files of 272 patients diagnosed with beta-thalassemia major and intermedia followed up in the Pediatric Hematology-Oncology outpatient clinic of Sanliurfa Training and Research Hospital between August 2016 and August 2017 were retrospectively reviewed and mutation analyzes were documented. Coding exons and exon-intron junction regions of beta globin-HBB gene were amplified by PCR method and then DNA sequencing was performed. Gender, nationality, consanguineous marriage, sibling history and blood type information were recorded.Results: Out of 272 patients, 94.1% were thalassemia major and the others were thalassemia intermedia. Approximately one third of the patients (30.1%) were foreign nationals. A total of 27 different mutations in the beta-globin gene were detected. The most common mutation is IVS-I-110 c.93-21 (G gt; A) (23.1%), which is followed by IVS-I-1 c.92 + 1 (G gt; A) (15.8%) and Codon 39 c.118 (C gt; T) (11.5%). One hundred and forty-two individuals (52.2%) had no sibling history, while 103 (37.9%) had one sibling and 27 (9.9%) had two siblings with thalassemia disorder. First-degree, second degree and third degree consanguineous marriages were present in 42.6% (n = 116), 8.1% (n = 22), 11% (n = 30) of parents, respectively.Conclusions: Beta-thalassemia disease is a common hematological condition in Sanliurfa. Approximately one-third of the patients who apply are foreign nationals. Correct identification of beta-globin gene mutations will guide genetic counseling and preventing prenatal disease. This data can contribute to the national thalassemia prevention program in Turkey.

Objectives: The primary objective of this study is to find out demographic and clinical profile of women with congenital malformation who underwent MTP and secondary objective is to find out types of congenital malformations, risk factors and method of termination of pregnancy. Methods: This retrospective cohort involved women with congenital malformations who underwent medical termination (MTP) over a 3 year period (July 2016 to June 2019) in a tertiary care facility. Data was analysed with respect to gestational age and spectrum of malformations and results were expressed as frequencies and proportions. Results: Of the 640 women underwent MTP, 245 were for congenital fetal malformations (38.2%). The mean age was 25 years, 95% belonged to low socioeconomic status and from rural background and were Hindus. The most common system affected was CNS (55.5%) followed by renal. The most common lethal anomalies were anencepahaly and hydrocephalous. Majority were diagnosed between 16 to 20 weeks and only 3 % were diagnosed in first trimester. Risk factors were third and second degree consanguinity (27%), diabetes in pregnancy (28%) and non consumption of folic acid preconceptionally (92%). Conclusion: The most common anomalies are largely preventable as they involved CNS and 40% were anencephaly. Non-consumption of folic acid, consanguineous marriage and diabetes mellitus were the risk factors. This suggests the need for increasing public awareness for intake of periconceptional folic acid and practice of pre-conceptional care for control of medical disorders.

Background: Although rare, several mutations in the gene VSX2 (visual system homeobox 2, formerly CHX10) have been associated with congenital autosomal recessive anophthalmia (absence of one or both eyes). This report describes a proband, who at presentation was gravida 2, para 0, and 30 weeks pregnant. Methods: A 30-year-old woman with congenital bilateral anophthalmia was 30 weeks pregnant at the time of presentation. Her parents were fourth-generation collateral blood relatives, and the familial congenital disease history suggested a possible genetic cause for her anophthalmia. Next generation sequencing and Sanger sequencing of blood samples of the patient, her parents, and her husband were conducted. The fetus was examined via ultrasound. Results: The woman patient had a homozygous variation of the VSX2 gene (NM_182894.2) c.634delC (p.R211 Gfs*90). Both of her parents carried a heterozygous variation of this locus. The husband showed no pathogenic variation in VSX2. The fetal ultrasound revealed bilateral eyeball lenses. A healthy girl was delivered at 41 weeks gestation, with bilateral eyeballs visible. Conclusions: Homogenous mutation of VSX2 c.634delC (p.R211Gfs*90) has not been reported previously. The patient's congenital bilateral anophthalmia was due to this homogenous mutation, the result of familial inbreeding. Avoiding near-relative marriage is an important means of preventing such diseases. [ABSTRACT FROM AUTHOR]

Background: There is a high rate of consanguinity and related genetic diseases in the general population of Saudi Arabia. Studies have been conducted to address the level of awareness about consanguineous marriages (CM); however, targeted young female studies are still limited. The association between consanguinity and socio-demographic information and the prevalence of consanguinity among educated female university students of Princess Nourah Bint Abdulrahman University (PNU), Riyadh, Saudi Arabia, is being addressed in the present study. Methodology: A cross-sectional web-based questionnaire study was conducted randomly among PNU students from October 3 to November 2, 2019. Multivariable data analysis was conducted, and an odds ratio was calculated to identify factors associated with CM and health outcomes. Results: Among the 637 students who completed the questionnaire, consanguinity was significantly higher among participants than their parents, as 37.88% of the 293 married participants had CM. A strong correlation was found between parents and their daughters; consanguinity was highest (52.27%) in the daughters of parents who were in consanguineous marriages themselves. The general high level (91.51%) of awareness about CMs consequences and their link to genetic diseases was found. However, a lack of knowledge about the type of diseases was noted among participants. Diabetes and blood diseases were the most common diseases in different CM groups. Conclusion: Despite the high levels of awareness, more targeted awareness campaigns are needed, especially among the younger generation. [JBCGenetics 2021; 4(1.000): 27-34]

Introduction: India has been subdivided in to two major regions with respect to a preference for or avoidance of consanguineous marriage. The deleterious health effects associated with consanguinity are caused by the expression of rare, recessive genes inherited from common ancestors. Objectives: To find out the prevalence and types of consanguinity and reproductive behaviour in rural area of Nagpur district. Methodology: study design: cross sectional study. Setting: Raipura village, a field practise area of Indira Gandhi Government Medical College, Nagpur. Study population: married couples. Result: The prevalence of consanguineous marriage in study couple was 16.43%. Most prevalent type of consanguineous marriage was seen in mother’s brother’s daughter type (73.04%). Significant association found in study couples and consanguinity in their parents. No significant effect of consanguinity was observed on foetal loss, neonatal mortality but significant association was found with congenital malformations. Conclusion: Consanguineous marriages are still favourable in this region.

Abstract Background Xeroderma pigmentosum is a rare, autosomal-recessive photosensitive dermatosis. Patients with xeroderma pigmentosum have an impaired ability to repair deoxyribonucleic acid damage caused by ultraviolet rays, resulting in skin cancer. Patients with xeroderma pigmentosum are more susceptible to some cancers. We herein report a case of xeroderma pigmentosum accompanied by lung cancer. Case presentation The patient was a Japanese woman in her 70s with a family history of consanguineous marriage. Her medical history included squamous cell carcinoma and basal cell carcinoma, in addition to xeroderma pigmentosum. She presented with dry skin with small, pigmented spots, which were particularly focused around the areas exposed to sunlight. Chest computed tomography was conducted to assess for any evidence of metastatic skin carcinoma, and revealed a tumor in the left upper subpleural lobe of the lung. Consequently, she was referred to our department. Finally, we diagnosed lung adenocarcinoma (pT2aN0M1b: stage IVA). She had an epidermal growth factor receptor (EGFR) mutation (p.L858R). Treatment with an epidermal growth factor receptor tyrosine kinase inhibitor (gefitinib) was initiated, and the tumor gradually regressed. No side effects were observed. However, she later died from aspiration pneumonia. Conclusions Although xeroderma pigmentosum is rare, a history of consanguineous marriage should be verified. Because of the severe side effects of cisplatin and radiotherapy in xeroderma pigmentosum patients, the risks and benefits of treatment should be considered thoroughly.

Background Consanguinity has been extensively studied in the context of its negative health outcomes for offspring and socio-demographic factors, but little evidence-based research has been done on its potential social benefits. Aim To examine the association between consanguineous marriage and the risk of divorce or separation, polygyny, and survival of marriage in Jordan. Subjects and methods Data were obtained from the 2018 Jordan Population and Family Health Survey, covering a nationally representative sample of ever-married women of reproductive age. Descriptive statistics, multiple logistic regression, and survival analysis techniques were used for data analysis. Results The prevalence of consanguineous marriage was found to be 27.5% in Jordan in 2018, while the prevalences of polygyny and divorced/separated rates were 4.4% and 4.7%, respectively. Both consanguineous and polygyny rates showed declining trends, but divorce/separation rate showed an increasing trend. Compared to non-consanguineous marriages, the risk of divorce/separation and polygyny were found to be lower among women with consanguineous marriage, while the survival of marriages was found to be higher for consanguineous marriages than for non-consanguineous marriages. Conclusions Findings revealed that consanguinity has some social benefits as it plays protective roles against divorce or separation, polygyny and enhances the survival of marriages.

Consanguineous marriage is still a preferred option in many societies of southern India. Therefore, this study addresses the state and district wise variation in consanguineous marriages and also attempts to find out the underlying factors of this practice in different marriage cohorts of South India. Drawing data from National Family Health Survey-4, the result revealed that there is a reduction in consanguineous marriages from 32.6% who married before 1985 to 23% during 2010–2014. About 13 districts in Tamil Nadu had the highest prevalence of consanguineous marriages, indicating that recent socio-demographic changes such as delays in age at marriages, lesser age gaps between partners, increase in the level of education, etc., did not explicitly affect the consanguineous marriages. [ABSTRACT FROM AUTHOR]

Background: Hereditary hearing loss (HHL) is a common heterogeneous disorder affecting all ages, ethnicities, and genders. The most common form of HHL is autosomal recessive non-syndromic hearing loss (ARNSHL), in which there is no genotype–phenotype correlation in the majority of cases. This study aimed to identify the genetic causes of hearing loss (HL) in a family with Iranian Azeri Turkish ethnicity negative for gap junction beta-2 (GJB2), gap junction beta-6 (GJB6), and mitochondrially encoded 12S rRNA (MT-RNR1) deleterious mutations. Methods: Targeted genome sequencing method was applied to detect genetic causes of HL in the family. Sanger sequencing was employed to verify the segregation of the variant. Finally, we used bioinformatics tools and American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) guidelines to determine whether the detected variant might affect the corresponding protein or not. Results: A novel homozygous missense mutation, c.499G>A (p.G167R), was identified in exon 5 of the ESRRB (estrogen-related receptor beta) gene. Healthy and affected family members confirmed the co-segregation of the variant with ARNSHL. Eventually, the variant's pathogenicity was confirmed by the in silico analysis and the ACMG/AMP guidelines. Conclusion: The study suggests that the detected variant, c.499G>A, plays a crucial role in the development of ARNSHL, emphasizing the clinical significance of the ESRRB gene in ARNSHL patients. Additionally, it would be helpful for genetic counseling and clinical management of ARNSHL patients and providing preventive opportunities. [ABSTRACT FROM AUTHOR]

Background: Union between second cousins and closer relatives is called consanguineous marriage. Consanguineous marriage is associated with increased risk of autosomal recessive diseases and several multifactorial traits. In order to evaluate the association between prevalence/mortality of COVID-19 and the frequency of consanguineous marriage, the present ecologic study was carried out. For the present study, data of prevalence (per 106 people) and mortality (per 106 people) and number of performed laboratory diagnostic test (per 106 people) of COVID-19 disease at four time points (December 2020; March, August and October 2021) of 65 countries were used. Results: Univariable correlation and generalized estimating equation analysis were used. In analysis, prevalence and mortality of COVID-19 were used as dependent variables and human development index, number of performed diagnosis test and the mean of inbreeding coefficient (α-value) were introduced into model as covariates, and time point was used as a factor in analysis. The square root (SR) of prevalence (P = 0.008) and SR-mortality (P < 0.001) of COVID-19 negatively associated with the log-transformed of α-value. Conclusions: The present finding means that in countries with high levels of consanguineous marriages, the prevalence of COVID-19 and mortality due to COVID-19 were lower than countries having low level of marriage with relatives. [ABSTRACT FROM AUTHOR]

Methods: This systematic review of the determinants of consanguinity among Arab populations was conducted using databases: PubMed, Medline, Direct Science, Scopus, Web of sciences, Springer, Google scholar between 2000 and 2020. Inclusion and exclusion criteria were set. The selection steps were carried out based on PRISMA guidelines. Disagreements in article selection and data extraction were resolved by discussion or recourse to a third reviewer Results: Overall, 25 studies were selected. The synthesis of the results concerning the determinants of Arab inbreeding revealed that several economic, socio-cultural and demographic factors seem to be associated with the choice of this type of marriage, such as socioeconomic status, low level of education especially among women, early age at first marriage, place of residence especially in rural areas, and women's status in the labor market. Conclusion: The relationship between consanguinity and economic, socio-cultural, and demographic factors may be country-specific and highly dependent on the cultural context. Public awareness of genetic risks associated with inbreeding is indispensable.

What is the association between VEGF gene sequence variants and its mRNA expression in recurrent pregnancy loss (RPL)? Vascular endothelial growth factor (VEGF) has a prominent role in pregnancy and affects pregnancy outcome. The association of VEGF gene 1154G>A, 634G>C and 583C>T polymorphic variations with cases of RPL and full-term fertile women as controls was investigated. Two hundred women with RPL and 240 women healthy controls were included. The restriction fragment length polymorphism method was used for genotyping and quantitative real-time polymerase chain reaction was used for analysis of mRNA expression. In VEGF 1154G>A, significant differences were found in homozygous AA genotype between case and control participants. The variant allele A frequency was significantly more abundant in RPL cases (0.41) than controls (0.19) (P < 0.0001). Only RPL cases with the multi-generation family history of miscarriages and those without any history showed significant differences of combined genotype GA+AA (P < 0.0001). In VEGF 634 G>C, CC genotype and allele C showed significantly increased frequency in RPL cases compared with healthy controls (P < 0.0001). The association between VEGF -1154 G>A SNP and VEGF-A mRNA expression levels was significant in RPL cases (P = 0.004). Also in VEGF-583 C>T, CT genotypes were seen significantly associated with cases (P = 0.003). The heterozygous genotype GA was significantly (P = 0.03) associated with upregulation and downregulation of VEGF mRNA, whereas the homozygous variant genotype AA only leads to low expression levels of VEGF mRNA in patients with RPL. All the variants of VEGF play a vital role in an increased susceptibility to RPL. Also, VEGF -1154, AA genotypes are associated with its altered low mRNA expression in women with RPL and seem to affect pregnancy outcome. [ABSTRACT FROM AUTHOR]

Consanguineous marriage is the legal union of male and female of a common ancestor related by blood. The most common prevailing form of consanguineous marriages is between first cousins. Middle East Asian countries and southern states in India show high prevalence. A comparative analysis between the two rounds of National Family Health Survey 1 and 4 have shown a declining trend for the practice of consanguineous marriages. The highest percentage of consanguineous marriages is seen among the first cousins from both father's and mother's side, most commonly practice in the southern states of Andhra Pradesh, Telangana, Tamil Nadu, and Karnataka except Kerala. Importantly, the practice of consanguineous marriage is higher among the Muslims of North India and Hindus of Southern India, among the Other Backward Classes and the less educated population of the middle and richer wealth index. A significant relationship can be noticed among consanguineous marriages and socio-economic variables. [ABSTRACT FROM AUTHOR]

Introduction: Premarital screening (PMS) is an essential global measure that seeks to reduce the occurrence of specific genetic disorders and sexually transmitted diseases common in consanguineous marriages. Due to the lack of a nationwide study, this research was designed to comprehend how unmarried individuals perceive the risks and benefits of PMS., Method: A cross-sectional study was conducted using an online questionnaire distributed through different social media platforms, responses from the native adult population (18-49 years) Saudi Arabia was only included in the study. The questionnaire was based on the Health Belief Model (HBM) to assessing seven different constructs including susceptibility, seriousness, benefits-, barriers-, & cues- to action, self-efficacy, and social acceptance. Data frequency was represented by mean and standard deviation; chi-square and t -tests were conducted for the comparison of independent and dependent variables. A multinomial logistic regression was used to predict factors influencing decisions related to PMS., Results: 1,522 participants completed the survey, mostly 18-25 years old and most of them were women. The majority were single with 85 men and 1,370 women. Most participants (59.6%) believed their parents were related, while 40.5% did not. 122 respondents reported they had to marry within their tribe. Findings revealed significant correlations among all HBM themes, with varying strengths. Notably, a moderate positive relationship was found between the perception of benefits and cues to action, suggesting that enhancing the perceived benefits of PMS could facilitate safe marriage practices. Multinomial regression analysis revealed that demographic factors and health beliefs significantly influence individuals' intentions and behaviors toward PMS and safe marriage., Conclusion: The study concludes that by identifying and addressing barriers, and promoting positive social acceptance, PMS can significantly contribute to preventing genetic diseases and promoting safe marriage practices, although the cross-sectional design limits the establishment of causal relationships and further research is needed., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2024 Alwhaibi, Almuwais, Alotaibi, AlTaleb, Alsamiri and Khan.)

This study investigated people’s knowledge of genetics, attitudes toward genetic testing, and views on consanguinity. This cross-sectional study utilized a validated questionnaire modified from published studies to collect data on people’s knowledge of genetics and attitudes about genetic testing among 1008 respondents from various Saudi Arabian regions. Using SPSS software version 26, data were analyzed using a t-test, ANOVA, and multivariate analysis. p-values of p ≤ 0.001) with a positive attitude toward genetic testing. Gender, age, level of education, marital status, family income, and family history were significantly correlated with respondents’ understanding of genetics. Gender, family income, residence, and family history were associated with attitudes toward genetic testing at a 0.05 level of significance. There is a need to strengthen peoples’ knowledge of genetics and attitudes toward genetic testing through diverse educational programs and healthcare strategies. Impetus on how to disseminate genetic information on consanguinity and transmission of diseases should be prioritized in regions where consanguineous marriages are high.

Background: Despite the widespread practice of consanguinity in Sudan, there is a lack of exploration into the community's awareness of its health implications on offspring and their overall attitude towards consanguineous unions., Aim: This study aimed to evaluate the community's awareness of the possible health adversities of consanguinity on children and assess the effect of knowledge level on the prevailing attitude towards this practice in Sudan., Methods: From August to December 2018, data were collected from adults aged 18 years and above in five provinces of Sudan regardless of their marital status. The analysis involved both descriptive and multivariate statistical techniques., Results: This study revealed a consanguinity rate of 30.2%. Despite a high awareness level (73.7%) regarding the effects of consanguineous marriage on the health of the offspring, a moderately negative attitude towards this practice (63.9%) was observed., Conclusion: The discordance between the high consanguinity rate in the Sudanese population and the moderately negative attitude suggests a potential persistence of this practice in the future. Without the implementation of educational programs and the provision of genetic counselling services to consanguineous couples, the prevalence of consanguinity is likely to endure., Competing Interests: The authors declare no conflict of interest.Sponsorships or competing interests that may be relevant to content are disclosed at the end of this article., (Copyright © 2024 The Author(s). Published by Wolters Kluwer Health, Inc.)

Worldwide, more than 130 million infants are born each year and a considerable number of 13.5 million of these children have inbred parents. The present study aimed to investigate the association between parents' consanguinity and chronic illness among their children and grandchildren in India. The nationally representative data, Longitudinal Aging Study in India, 2017-2018, Wave 1 was used for the present study. Bivariate analysis, a probit model, and propensity score estimation were employed to conduct the study. The study observed the highest prevalence of consanguinity marriage in the state of Andhra Pradesh (28%) and the lowest in Kerala (5%) among the south Indian States. People who lived in rural areas, belonged to the richer wealth quintile and Hindu religion were the significant predictors of consanguinity marriage in India. For individuals who were in consanguineous marriages, there was 0.85%, 0.84%, 1.57% 0.43%, 0.34%, and 0.14% chances of their children and grandchildren developing psychotic disorders, heart disease, hypertension stroke, cancer, and diabetes, respectively. Moreover, around 4.55% of the individuals have a history of birth defects or congenital disorders. To address the risk of complicated illnesses due to the consanguinity of marriage, medical, genetic, and social counselling services are required.

The IGHMBP2 (Immunoglobulin Mu DNA Binding Protein 2) gene is located on the long arm of the chromosome 11. The protein that it encodes can be found in every human cell and it’s part of the ATP-dependent helicases involved in many key metabolic processes in the cell, especially in the cells of the α-motor neurons. Mutations in this gene can lead to rare degenerative neuro-muscular diseases -spinal muscular atrophy with respiratory distress type1 (SMARD1) and the clinically milder Charcot-Marie-Tooth type 2S (CMT2S). The typical clinical manifestations include dystal muscular hypotonia, difficulties with feeding, respiratory failure due to diaphragmatic palsy which usually develop in the period from 6 weeks to 6 months postnatal age. The case depicted in this article is one of an unusual and fulminant clinical presentation in an infant born from a consanguineous marriage who is a homozygous carrier of the c.780del (p.Gln260Hisfs*25) mutation in the IGHMBP2 gene. This same mutation has been mentioned only once in the scientific literature regarding 2 siblings from a Bulgarian family. [ABSTRACT FROM AUTHOR]

Background and purpose: Hearing impairment as a heterogeneous disorder is the most common sensory defect. Genetic (hereditary) hearing loss involves 50% of total cases and the remaining 50% are non-hereditary cases caused by unknown causes. This study aimed to investigate the role of consanguineous marriage and the relationship between the type of deafness and the hereditary pattern in families with more than one deaf patient in Golestan province, Iran. Materials and methods: The study population included 165 families with deaf members whose files were available in the General Welfare Department of Golestan Province. They were randomly selected during 2018-2019. Data, including number of family members with hearing loss and severity of the condition were collected by face-to-face interviews with parents. Data analysis was done in SPSS. Results: The mean age of the subjects was 27.67±9.71. Female and male cases included 42.1% and 57.9%, respectively. In 85% of the cases, genetic factor and in 15% acquired factors were responsible for hearing loss. Among the genetic causes, 90.9% of the population were autosomal recessive and 9.1% were autosomal dominant. Moreover, 70% of families had consanguineous marriage and first-degree family relationship was seen in 92 families (80%). Conclusion: Genetic factor with the autosomal recessive inheritance pattern was the most common cause of hearing loss in the population studied. Increasing awareness about the consequences of consanguineous marriage and genetic counseling are indispensable in decreasing the rate of this condition. [ABSTRACT FROM AUTHOR]

The prevalence of familial multiple sclerosis (FMS) is increasing worldwide which endorses the heritability of the disease. Given that many genome variations are ethnicity-specific and consanguineous marriage could affect genetic diseases, hereditary disease gene analysis among FMS patients from Iran, a country with high rates of parental consanguinity, could be highly effective in finding mutations underlying disease pathogenesis. To examine rare genetic mutations, we selected three Iranian FMS cases with ≥3 MS patients in more than one generation and performed whole exome sequencing. We identified a homozygous rare missense variant in POLD2 (p. Arg141Cys; rs372336011). Molecular dynamics analysis showed reduced polar dehydration energy and conformational changes in POLD2 mutant. Further, we found a heterozygote rare missense variant in NBFP1 (p. Gly487Asp; rs778806175). Our study revealed the possible role of novel rare variants in FMS. Molecular dynamic simulation provided the initial evidence of the structural changes behind POLD2 mutant. • Exome sequencing reveals novel rare variants in Iranian FMS. • POLD2 (p. Arg141Cys; rs372336011) in FMS with recessive pattern of inheritance. • NBFP1 (p. Gly487Asp; rs778806175) in FMS with dominant pattern of inheritance. • Reduced polar dehydration energy and conformational changes behind POLD2 p.Arg141Cys mutant. [ABSTRACT FROM AUTHOR]