Retinitis Pigmentosa (RP) is a group of inherited retinal dystrophies with significant genetic heterogeneity. The prevalence and clinical characteristics may vary among different populations due to genetic and cultural factors. To analyze the clinical characteristics, demographic distribution, and genetic factors of RP patients in this cohort of 95 Turkish RP patients. This retrospective study analyzed data from 95 RP patients collected through structured questionnaires and clinical records. Data included age of symptom onset, family history, consanguineous marriage history, visual acuity, and genetic test results. The mean patient age was 36.0 ± 12.6 years (range: 13-71 years). Mean symptom onset age was 14.8 ± 11.1 years (range: 0-52 years). Positive family history was present in 53.1% (43/81) of evaluable patients. Consanguineous marriage history was found in 52.4% (43/82) of cases. Among patients with visual acuity data (n = 21), 85.7% had severe vision loss (≤10%), 4.8% had moderate vision loss (11-30%), and 9.5% had mild vision loss (>30%). Genetic testing was performed in 54.3% of patients, with CERKL and USH2A being the most commonly identified genes. This cohort of 95 Turkish patients with RP shows predominant autosomal recessive inheritance patterns with high rates of consanguineous marriage and positive family history. The majority of patients present with severe vision loss, and symptoms of onset typically occur during childhood and adolescence. These findings highlight the importance of genetic counseling and early diagnosis strategies in populations with high consanguinity rates.

Objective: The research aims to investigate correlations between prenatal medication exposure and ASD risk. Study Design: Cross-Sectional Observational Study. Setting: Department of Speech Language Pathology, The University of Lahore. Period: 22nd April 2024 22nd October 2024. Methods: Involving 45 mothers of autistic children. The research spanned 12 months, employing a purposive sampling technique and a self-designed questionnaire. Data analysis utilized SPSS software, focusing on demographic characteristics and questionnaire responses. Results: Findings reveal a variety of factors potentially associated with ASD, including abrupt medication changes (26.7%), pre-clampsia (35.6%), maternal age (60% within 25-30 age group), neurological conditions (37.8%), cousin marriages (37.8%), and complications during delivery (22.2%). The study emphasizes the complexity of ASD and highlights potential risk factors. Conclusion: The research concludes that while no specific prenatal factor is implicated in ASD etiology, certain associations suggest that exposure to pregnancy complications may increase the risk. The study underscores the need for a nuanced understanding of ASD and early intervention strategies.

Impact of consanguineous marriage on developmental dental anomalies: a cross-sectional study.

Congenital abnormalities (CA) are anatomical or performance-based anomalies that express themselves during the in-utero growth and may be diagnosed during pre-birth, during delivery, and post-birth. Objective: To review the incidence of birth defects in infants. Methods: The descriptive cross-sectional study was conducted in the Department of Obstetrics and Gynecology, Civil Hospital, Karachi, during a period of two years, i.e., March 2017 to March 2019. This study had 213 pregnant women. After birth, there was the identification of congenital anomalies in the newborns by visual examination, and other factors were established by the history of the patient or medical records. All the data were recorded on a pre-determined proforma template. Results: The average age of the participants was 27.381 ± 4.08. The most common congenital anomalies were anencephaly (19.7%), hydrocephalus (15.5%), absence of ear/finger/toe/scrotum/arm/leg/limbs (9.4%), cleft lip and cleft palate (8.9%), meningomyelocele (7%), and talipes (8%). The causal variables were maternal age 30 years and above (20.2%), paternal age 35 years and above (19.7%), maternal diabetes mellitus (20.2%), consanguinity marriage (20.2%), maternal infection during pregnancy (8.9%), and maternal folic acid supplementation (61.5%). These are said to be descriptive and not causal. Conclusions: This study highlights the rate of congenital anomalies and the types of congenital anomalies. Its results touch on the importance of routine antenatal care and prenatal screening to intervene and manage affected pregnancies at an earlier stage.

ABSTRACT Background Inherited bone marrow failure syndromes (IBMFS) often present with overlapping features and may be misdiagnosed as idiopathic aplastic anemia (iAA). Genetic testing is critical for accurate diagnosis, especially in consanguineous populations. Research design and methods We retrospectively analyzed 41 pediatric patients who underwent genetic evaluation for suspected bone marrow failure. Clinical features, diagnostic classifications, and genetic findings were reviewed to assess diagnostic yield and impact. Results The cohort included 21 males and 20 females (median age: 8 years). Pancytopenia was the most common presentation (27/41; 65%), half (20/41; 49%) were products of consanguineous marriage. iAA was the initial diagnosis in 56% (23/41). Genetic testing identified pathogenic/likely pathogenic (P/LP) variants in 14 patients (34%), enabling a molecular diagnosis. An additional 13 patients (32%) had variants of uncertain significance, one of which was later reclassified as LP, confirming Noonan syndrome. Genetic findings prompted diagnostic revisions, including Fanconi anemia, Congenital Amegakaryocytic Thrombocytopenia, Shwachman–Diamond syndrome, and Diamond–Blackfan anemia. Commonly affected genes included MPL, FANCA, followed by DANJC21. Conclusions In this Pakistani cohort, genetic testing clarified IBMFS diagnoses in 34% of cases, matching global yields. It enhanced diagnostic precision, informed management, and supported family counseling, though high VUS rates underscore the need for ongoing reclassification and multidisciplinary care.

The quality of marriage in families of prisoners needs more attention because of the many challenges faced. This study analyzes the effects of stress symptoms and coping strategies on the marital quality of female inmates at the Class II A Women's Prison in Jakarta. Using a cross-sectional design and purposive sampling, 36 female inmates were involved. The findings show that the wife's education level and length of stay in prison are negatively related to cognitive stress. In contrast, the husband's educational level is negatively associated with affective stress. Affective stress also negatively impacts marital happiness and satisfaction. Conversely, emotion-focused coping strategies positively influence marital satisfaction, and the wife's education level is positively linked to marital happiness. Other factors, such as the wife's and husband's age, family size, and husband's occupation, show positive relationships with marital satisfaction. Regression analysis indicates that marital quality is positively influenced by the number of children and coping strategies, but negatively affected by stress symptoms. Evaluation and development of coping strategies need improvement, with special attention to emotion-focused strategies, such as spiritual practices, which have been shown to enhance marital quality.

Objective: To determine the prevalence of hearing loss in children of parents with consanguineous marriages and compare it with those from non-consanguineous unions. Methodology: This cross-sectional study was conducted in collaboration between the Department of Community Medicine, Bakhtawar Amin Medical & Dental College (BAMDC), Multan, and the Department of ENT, CMH Multan Institute of Medical Sciences (CIMS), Multan from Sep 2024 to Feb 2025. A total of 120 children aged 1–15 years were enrolled through non-probability consecutive sampling. A predesigned questionnaire was used to collect demographic and parental information. Hearingassessmentwasperformedusingpure tone audiometryandage-appropriate screeningmethods. Data were analyzed using SPSS version 26. Chi-square test was applied to assess associations, with p < 0.05 considered statistically significant. Results: Of the 120 participants, 70 (58.3%) were males and 50 (41.7%) females, with mean age 5.70 ± 3.05 years. Parental consanguinity was present in 79 (65.8%) cases. Overall, hearing loss was observed in 52 (43.3%) children. It was significantly more common in the consanguineous group (41/79, 51.9%) compared to the non-consanguineous group (11/41, 26.8%) (p = 0.01). However, the degree of hearing loss did not differ significantly between the two groups (p = 0.19). Conclusion: Children of consanguineous parents showed a significantly higher prevalence of hearing loss. Community education, genetic counseling, and early screening are recommended to reduce the burden of preventable hearing impairment. Keywords: Audiometry, Children, Consanguinity, Hearing loss.

BackgroundConsanguineous marriage (≥ second cousins) is prevalent in Yemen (40–50%) and linked to increased genetic disorders. This study assesses its prevalence and health impacts in Radfan districts.MethodologyA 2024 cross-sectional study of 1065 randomly selected households. Data were collected via validated questionnaires supplemented by medical records where available. Analyses included consanguinity rates, inbreeding coefficients (F), sociocultural factors, and clinically validated genetic disorders. Statistical analysis employed χ² tests, multivariable logistic regression (adjusted ORs), and Cohen’s d for effect sizes.ResultsThe consanguinity rate was 57.46%, significantly higher in rural (37.09%) than urban areas (20.38%). Wives with a university education had a 71.9% lower likelihood of consanguineous marriage (adjusted OR = 0.28; 95% CI: 0.18–0.44). Consanguineous couples had significantly higher odds of adverse outcomes compared to non-consanguineous couples, including abortion (adjusted OR = 1.8; 95% CI: 1.4–2.3), child mortality (adjusted OR = 2.1; 95% CI: 1.6–2.8), blood disorders (adjusted OR = 3.5; 95% CI: 1.7–7.4), and disabilities (adjusted OR = 2.6; 95% CI: 1.4–4.8). Blood disorders were predominantly hemoglobinopathies (87%). The mean inbreeding coefficient was F = 0.0625 (first-cousin equivalent).ConclusionsThe high prevalence of consanguineous marriages is a significant, modifiable risk factor for the increased burden of genetic disorders in the population. Addressing this urgent public health challenge requires a multi-faceted strategy: implementing mandatory premarital screening for hemoglobinopathies, launching community-based genetic literacy programs, and establishing economic incentives to encourage non-consanguineous unions.Supplementary InformationThe online version contains supplementary material available at 10.1186/s12920-025-02267-5.

Rare genetic diseases (RGDs) affect individuals, families, and healthcare systems worldwide. Population-scale genomic data remain largely restricted to Western cohorts with an estimated 10,000 RGDs. South Asian populations remain underrepresented in molecular, clinical, and genomic databases. This study presents the first preliminary molecular genetic characterization of RGDs in the Punjabi population of Pakistan. Data were collected from the provincial RGD registry at the Punjab Thalassemia and Other Genetic Disorders Prevention and Research Institute (PTGDPRI), Lahore. Families diagnosed using next-generation sequencing (NGS) between 2021 and 2023 were enrolled. Structured questionnaires captured clinical, demographic, and socioeconomic information, and statistical and genetic analyses were performed to assess allele frequencies, and disease distribution. The registry included 167 families with 72 distinct RGDs, with a mean burden of 0.81 ± 0.24 affected children per family. Niemann–Pick disease (NP), progressive familial intrahepatic cholestasis (PFIC), and mucopolysaccharidosis (MPS) were the most common diseases. Consanguinity was observed in 89% of families, 77% of which involved first-cousin marriages, and was significantly associated with RGD incidence. Most families belonged to low-income groups despite high literacy rates, underscoring inequity in healthcare. The primary and secondary variants included 131 variants, including copy number variants (CNVs) and single nucleotide variants (SNVs), annotated as pathogenic, likely pathogenic, or variants of unknown significance (VUS) across 109 genes, including 24 South Asian-enriched variants. This study provides the first genomic and epidemiological overview of RGDs in the Punjabi population. The findings reveal how genetic, socioeconomic, and cultural factors converge to amplify the RGD burden and highlight the need for affordable molecular diagnostics, inclusive genomic databases, and regional genomic surveillance initiatives in South Asia.

Maple syrup urine disease (MSUD) is a rare inherited metabolic disorder caused by a deficiency in the branched-chain alpha-keto acid dehydrogenase complex, leading to the accumulation of branched-chain amino acids. This case series describes the clinical and genetic findings of ten Iranian patients with MSUD, focusing on novel mutations in the BCKDHA, BCKDHB, and DBT genes. Ten unrelated patients, all from consanguineous marriages, were diagnosed with MSUD based on clinical presentations and metabolite levels. Whole exome sequencing (WES) and Sanger sequencing identified five novel mutations (c.776C > T, IVS5-1G > C, c.1070C > T, c.807-813del7nt, c.772-773insT) and two previously reported mutations in these patients. Pathogenicity was assessed using bioinformatics tools and confirmed by their absence in healthy controls. This case series highlights the genetic heterogeneity of MSUD in the Iranian population, identifying novel mutations associated with severe clinical presentations. These findings emphasize the value of genetic testing for early diagnosis and genetic counseling in consanguineous populations, with implications for managing MSUD and preventing complications.

Introduction: Cleft lip (CL) and cleft palate (CP) are the most common congenital anomalies affecting the craniofacial region. These conditions occur when the tissues forming the upper lip and the roof of the oral cavity fail to fuse properly during embryonic development, usually in the first trimester. Their etiology is multifactorial. Functionally, CL, CP, and cleft lip and palate (CLP) can lead to significant challenges, including feeding difficulties, speech and hearing problems, and psychological issues in children.Materials and methods: This study was conducted at Drs. Sudha & Nageswara Rao Siddhartha Institute of Dental Sciences, Chinoutpalli, Andhra Pradesh, India. A total of 404 patients from 2017 to 2025 were evaluated for variables such as age, sex, laterality of CL (complete and incomplete), consanguinity, paternal and maternal age, birth order, prenatal folic acid intake, prenatal maternal infections, family history, previous abortions, abnormalities detected in antenatal scans, and socioeconomic status, using a structured questionnaire. Cleft patterns were classified according to the Kernahan and Stark classification for CL and CP.Results: Etiological factors, such as male gender, consanguinity, maternal age, prenatal folic acid supplementation history, prenatal infections, abnormalities detected during antenatal ultrasound, and socioeconomic status, were found to be significant for CL, CP, and CLP (p ≤ 0.001). Complete CL occurring on the left side, paternal age, first-born status, and family history were also statistically significant (p = 0.01). In contrast, incomplete CL (p = 0.17), CL with alveolar involvement (p = 0.23), and previous abortion history (p = 0.093) showed no significant association. Multivariate logistic regression was used to determine odds ratios (ORs) and assess confounding factors. Consanguinity, prenatal maternal folic acid deficiency, maternal age between 30-35 and 35-40 years, paternal age between 35 and 40 years, first-born status, and lower socioeconomic status were identified as the strongest risk factors for CL, CP, and CLP. Prenatal infections were more strongly associated with CL, while positive family history was more likely associated with CP. Abnormalities detected during prenatal scans were associated with CP and CLP.Conclusion: The present study identified several significant risk factors for CL, CP, and CLP. The prevalence was higher among male children. Incomplete CL and CL with alveolar involvement showed no association with gender. Key contributing factors included consanguineous marriages, advanced maternal and paternal age at conception, folic acid deficiency, first-born status, and lower socioeconomic status. Additional associated factors were prenatal infections (for CL), positive family history (for CP), and abnormalities detected during prenatal scans (for CP and CLP). Previous abortion history showed no association with clefts.

Thyroid hormones are involved in the activation of glycogenolysis and mitochondrial oxidative phosphorylation. Kocher–Debré–Semelaigne Syndrome, also known as hypothyroid myopathy, is characterized by reduced glycogenolytic activity, leading to glycogen deposition in muscles. These reserves begin to deplete as euthyroidism is achieved. Primarily, patients complain of muscle weakness, mainly in the proximal muscle groups, stiffness, myalgia, and cramps. A distinctive feature of hypothyroid myopathies is the reversibility of clinical manifestations and a significant improvement in well-being with medical compensation of the disease. However, the absence of a pronounced clinical picture of hypothyroidism, combined with its rare occurrence, complicates early diagnosis and often requires differential diagnosis with other types of myopathies. This article presents a clinical case of a combination of genetically determined myopathy with extrapyramidal symptoms, associated with a mutation in the MICU1 gene, and hypothyroid myopathy associated with congenital hypothyroidism in a patient from a consanguineous marriage.

Perceptions, cultural norms and genetic risks of consanguineous marriages in district Kotli, Azad Jammu and Kashmir

Impact of a Counseling-Based Intervention Program on Enhancing Adolescents' Awareness and Risk Perception Toward Consanguineous Marriage at Kafr El-Sheikh, and El-Gharbia Governorates, Egypt

The present paper is based on the haemoglobinopathic study of four tribal demes. They are Tharus of West Champaran, Santhal of Madhepura, Malpahariya of Madhepura and Santhal of Kishanganj.The samples were collected by sectorial randomize method and 5ml blood was collected in EDTAtube. The blood was carries to camp laboratory for test. The prevalence of G6PD is minimum in Santhal and maximum in Malpaharia whereas Tharus of West Champaran represents moderate value. Most significant finding observed in sex wise prevalence in Malpahariya, in which 1:1 ratio is observed (0.549 :0.451).The G6PD is completely absent in female population of Santhal resides in district Kishanganj. The natural selection, adaption and consanguineous like marriage are collectively responsible for very high frequency of Gd-gene and heterozygous female. The prevalence of Sickle Cell Anaemia in 3.4%, 3.3%, 3% and 0% in Tharus, Malpahariya, Santhal of Madhepura and Santhal of Kishanganj respectively. The remarkable and interesting reciprocal relationship between sickle cell anaemia and glucose 6, phosphor dehydrogenase deficiencies is observed.. KEYWORDS :

Objective: This study aimed to evaluate the attitudes and behaviors of women healthcare professionals working in Ordu University Training and Research Hospital towards violence against women. Method: This study was conducted in Ordu University Training and Research Hospital between 01.10.2020-01.07.2021. The study was carried out with women healthcare professionals. Voluntary consent forms were signed by 387 women healthcare professionals who agreed to participate in the study. Participants were asked to answer the sociodemographic data form and the Attitude Scale towards Violence Against Women. Results: Most participants were aged 25 to 44, with an average age of 32.1 ± 6.7 years. It was determined that 1.5% of the participants were married in an arranged marriage, and 2.43% were in consanguineous marriages. Except for having children, the participants' age, marital status, the way of deciding to marry, consanguineous marriage status, the number of marriages, and duration of marriage, there was no statistically significant difference(P>0.05). It has been determined that 28.16% of the participants have been subjected to violence before. When the type of violence that the participants had been subjected to was examined, it was determined that 30.13% were exposed to physical violence, 67.12% to emotional violence, and 2.73% to economic violence. It was observed that as the education level of the participants and their spouses increased, a negative attitude towards violence was observed. It was observed that the working position within the institution also affected the attitude score, and the attitude score of the medical secretary and cleaning staff was determined to be lower. Conclusion: Education level, marital status, previous witnessing or subject to violence seem to play an essential role in the prevalence of violence against women and an individual's attitude towards violence. In this case, it was understood that healthcare professionals, whose education level is above the societal average, do not know precisely what to do against violence. To prevent violence and prevent health problems that may be caused by violence, it would be beneficial to revise training programs for healthcare professionals and increase in-service training.

Intracranial pseudoaneurysms are rare and account for approximately 1% of all intracranial aneurysms. They can occur at any age, including in children usually post-trauma. Their presence in newborns is extremely rare. This case describes a spontaneous ruptured pseudoaneurysm of the middle cerebral artery in a newborn. A 25-day-old female infant, born from a consanguineous marriage, was admitted following a generalized tonic-clonic seizure. There was no history of head trauma or infection. Neurologically, she had a Blantyre coma score of 5/5, no motor deficits, and a bulging anterior fontanelle. A transfontanellar ultrasound revealed a mixed right-sided mass displacing midline structures. This was confirmed by a brain CT scan which showed a large right frontoparietal hematoma. A cerebral CT angiography showed a probable fusiform aneurysm in the distal right middle cerebral artery (M3 segment). The patient was referred to our neurosurgery department for hematoma evacuation and aneurysm clipping. Under general anesthesia and after a linear incision was made, the bone flap was cut using a Metzenbaum scissor. The dura was opened then the large intraparenchymal hematoma was progressively evacuated. No aneurysmal sac was found, only the feeding branch with brisk arterial bleeding and clot, confirming the presence of an intracranial pseudoaneurysm. The bleeding vessel was coagulated. The patient had no postoperative deficits, possibly due to adequate collateral circulation. Pseudoaneurysms in neonates are rare. They should be suspected in infants with intraparenchymal hematoma and imaging suggestive of aneurysm. Careful imaging review is vital to guide treatment.

ABSTRACT Glanzmann's Thrombasthenia (GT) is a rare congenital bleeding disorder in children, caused by the absence or dysfunction of glycoprotein (GP) IIb/IIIa, a receptor located on the platelet membrane. Proper oral health and regular dental appointments are crucial for these patients. However, maintaining good oral hygiene is challenging among them. Due to excessive gingival bleeding, patients refrain from brushing their teeth, which leads to poor oral hygiene and severe dental caries. Furthermore, gingival inflammation caused by dental plaque may exacerbate the bleeding and create a vicious cycle. A 4‐year‐old girl with the chief complaint of pain and discomfort in the upper left deciduous molars was examined in April 2024. According to her past medical history, she was previously diagnosed with GT. She was the firstborn child of parents of a consanguineous marriage with no other siblings. Physical examination revealed petechiae and ecchymosis on her face, trunk, abdomen, legs, and limbs that resolved spontaneously over time. Clinical intraoral examination revealed rampant dental caries and generalized gingivitis. The patient was hospitalized 1 day before the surgery and received 1 dose of Recombinant Activated Factor VII preoperatively. Dental caries were removed and restored under general anesthesia. However, 1 week after the dental operation, the patient experienced sudden and severe bleeding, requiring two units of blood transfusions at that time. Dental care for patients with GT might be challenging due to the risk of excessive bleeding. It's essential to consider platelet transfusions in case of a significant risk of bleeding during surgery, and with extreme caution. Furthermore, severe delayed bleeding requiring transfusion as a postoperative complication should be considered and managed. Dental procedures should be performed with minimal tissue trauma to prevent bleeding.

Low birth weight (LBW) is a critical public health concern in Pakistan, significantly contributing to neonatal mortality and long-term health disparities. Consanguineous marriages, highly prevalent in the region, are associated with adverse birth outcomes. While antenatal care (ANC) visits are crucial for improving maternal and child health, their role in mediating the relationship between consanguinity and LBW remains underexplored. This study investigates whether ANC visits mediate the association between consanguineous marriage and LBW in Pakistan. This cross-sectional study utilized data from the 2017–18 Pakistan Demographic and Health Survey (PDHS), analyzing 14,465 live births. Consanguineous marriage was the independent variable, ANC visits (categorized as ≥ 8 vs. <8) served as the mediating variable, and LBW (< 2500 g vs. ≥2500 g) was the dependent variable. Generalized Structural Equation Modeling (GSEM) with 2000 bootstrap replications was employed to estimate direct and indirect effects, adjusting for maternal age, region, residence, household wealth, and working status. Consanguineous marriage was significantly associated with a reduction in the likelihood of adequate ANC visits (β=−0.015, p < 0.001). ANC visits, in turn, showed a strong and statistically significant negative association with LBW (β=−0.403, p < 0.001). The lmediation analysis revealed a statistically significant indirect effect of consanguineous marriage on LBW through reduced ANC utilization (β = 0.0062, p = 0.001; 95% CI: 0.0026 to 0.0098). A significant direct positive association between consanguineous marriage and LBW also persisted (β = 0.0173, p = 0.035; 95% CI: 0.0012 to 0.0335), confirming a partial mediation effect. Our findings indicate that consanguineous marriage increases the risk of LBW in Pakistan, partially mediated by reduced antenatal care utilization. This suggests that both behavioral (reduced ANC uptake) and potentially biological (genetic) pathways contribute to adverse birth outcomes in consanguineous unions. Targeted interventions are needed to increase ANC access and utilization, particularly in rural and low-income consanguineous communities, alongside promoting women’s healthcare autonomy and genetic counseling to mitigate the burden of LBW.Supplementary InformationThe online version contains supplementary material available at 10.1038/s41598-025-24261-8.

Preconception care (PCC), particularly genetic testing, is essential for improving reproductive health outcomes in high-risk families, including those with consanguineous marriages. Whole-exome sequencing (WES) has shown promise in identifying autosomal recessive disorders, yet its use in preconception screening (PCS) has not been extensively studied in regions with high consanguinity, such as Palestine. This retrospective cross-sectional study aimed to assess the diagnostic yield of WES in identifying autosomal recessive genetic disorders in consanguineous Palestinian couples, particularly those with previously undiagnosed conditions. Forty consanguineous couples were recruited from outpatient genetic clinics across Palestine between 2021 and 2024. Recruitment was conducted through referrals from primary care physicians due to a history of consanguinity, recurrent pregnancy losses or a relative with confirmed or suspected genetic disorder. The results revealed that 72.5% (29/40, 95% CI: 56.1%-85.4%) of couples carried pathogenic/likely pathogenic (P/LP) variants, with 86.2% (25/29, 95% CI: 68.3%-96.1%) being carriers of autosomal recessive conditions not previously identified within their families. Of those with positive results, 48.3% (14/29, 95% CI: 29.4%-67.5%) carried more than one P/LP variant. Incidental or secondary findings (ISFs) were observed in 7.5% (3/40, 95% CI: 1.6%-20.4%) of the couples. These findings emphasize the value of WES as a comprehensive genetic screening tool, particularly in populations with high consanguinity, and its potential to enhance preconception care and reduce the burden of genetic disorders.