History Of Consanguineous Marriage Research Articles

Awareness on thalassemia and opinion of carrier screening among young women from selected undergraduate colleges of udupi district

IntroductionHemoglobinopathies are inherited disorders of red blood cells that poses significant cause of morbidity and mortality, impose a heavy burden on family. The study aims to assess the awareness of Thalassemia, and its willingness to screen among young women from Udupi district. MethodsA descriptive cross-sectional survey design was employed to assess the awareness on Thalassemia among young women belonging to the age group of 18–24 years from selected undergraduate institutions of the Udupi district. The study used descriptive statistics, data visualization methods and chi-square tests. ResultsAmong the 389 participants, 3(0.8%) of the participants reported Thalassemia in their families. Also, 28(7.2%) of the participants have a history of consanguineous marriage. 273 (70%) participants reported Thalassemia is a lifetime condition, whereas 284(73%) believed that consanguinity does not increase the Thalassemia incidence. According to 275(70%) respondents, premarital screening is not essential to rule out Thalassemia.The readiness of young women to screen for carrier status was estimated to be 57(15%), While 101(27%) were unwilling to screen, While 221 (58%) were unsure about screening for carrier status. Based on Pearson's Chi-Squared test, there was association between following variables: Age and Thalassemia awearness, (χ2 (4) = 13.749, p < 0.008), Education and Thalassemia awearness (χ2 (4) = 10.864, p < 0.028), knowledge score and family income (χ2 (8) = 21.100, p < 0.007). ConclusionThe premise suggests a lack of awareness of Thalassemia disorder among young women, this calls for an urgent need to revise the Thalassemia control programme.

Birden Fazla Dişte Erüpsiyon Öncesi İntrakoronal Rezorpsiyon: Sıra Dışı Bir Vaka Serisi

Pre-eruptive intracoronal resorption (PIR) is characterized by radiolucent lesion within coronal dental tissue and rarely seen in unerupted permanent teeth. The affected teeth are generally asymptomatic and detected during routine dental radiographic examination. Amelogenesis imperfecta (AI) is a group of relatively rare inherited abnormalities in enamel formation and/or calcification. A history of consanguineous marriage should be considered in individuals with the type of autosomal recessive AI (ARAI). Several dental alterations especially intracoronal resorption of unerupted teeth and failure or delayed eruption are more common in AI patients than in unaffected individuals. This report presents the clinical and radiographic findings of ARAI and PIR cases simultaneously seen in three generations of a family and oral rehabilitation of an unusual member of the same family.

Pattern of Congenital Overt and Occult Pediatric Surgical Anomalies in a Tertiary Care Centre Over 5 Years

ongenital anomalies are important cause of infant and childhood deaths, chronic illness and disability. The proportion of deaths and disability due to congenital anomalies has increased, as deaths due to other diseases have decreased over the years due to better health care. Hence it is essential to have basic epidemiological information of these anomalies. This is a hospital based, cross-sectional, record based study, conducted in the Department of Pediatric Surgery, Govt. Medical College Thiruvananthapuram, Kerala. Sample size included 300 children below the age of 12years admitted in the department of pediatric surgery with various major congenital anomalies, over a period of 5 years. More than half of these children were admitted after infancy for treatment, male children were more compared to females. Majority of these children were from low socioeconomic group. Only in 5.6% cases there was a history of consanguineous marriage. In 7.33% there was family history of congenital anomalies. In 32% cases the anomalies were detected in the antenatal period. Most of the anomalies were isolated anomalies. Genitourinary system was the most common system to be involved followed by, gastrointestinal tract. 91.67% children underwent surgical treatment, and only 10.67% children had major complications in postoperative period. This study shows that congenital anomalies are a major cause of hospital admissions in children of all ages. Pattern of anomalies seen in various centers are different. Knowledge of the pattern of congenital anomalies may be useful in planning health services. Keywords: Congenital, Anomalies, Pediatric surgery.

Single-center experience in management of progressive familial intrahepatic cholestasis

Background and study aimsProgressive familial intrahepatic cholestasis (PFIC) is an autosomal recessively inherited disease that causes intrahepatic-hepatocellular cholestasis. PFIC constitutes approximately 10–15% of cholestatic liver diseases in children. The aim of this study is to draw attention to this group of diseases, which pose a higher risk, in societies where consanguineous marriage is more common, and to share our experiences since the studies in the literature, regarding this group of diseases are case series with small number of patients. Patients and methodsThis cross-sectional study was conducted on 34 patients who were admitted with jaundice and diagnosed by genetic analysis, between January 2015 and July 2020. ResultsWe found 17.6% of patients with PFIC type 1, 55.9% patients had PFIC type 2, 14.7% patients had PFIC type 3, 8.8% patients had PFIC type 4 and 2.9% patients had PFIC type 5. Partial internal biliary diversion was performed in 5 (14.7%) patients, who had severe itching during follow-up, did not respond to medical treatment, and did not have significant fibrosis in liver biopsy yet. The degree of itching before PIBD was rated as +4 (cutaneous erosion, bleeding and scarring), in 5 patients and the rates were 0 (absent) in two patients, and +1 (mild itching) in 3 patients, 6 months after PIBD, these differences were statistically significant(p = 0.027). The mean weight z score was-1.43 (-3.72-+0.73), before PIBD, while it was 0.39(-1.86 -+2.45), six months after PIBD; the diference was statistically significant(p = 0.043). Liver transplantation was performed in 12 (35.3%) patients with significant fibrosis in liver biopsy and developing signs of portal hypertension. ConclusionThe PFIC disease group is a heterogeneous disease group that is difficult to diagnose and treat. It should be considered in patients with cholestasis and/or pruritus and those with a history of consanguineous marriage between parents and death of a sibling with similar clinical symptoms.

Prevalence and risk factors for keratoconus in a university-based population in Turkey.

To determine the prevalence of keratoconus (KC) in the students and faculty members (aged ≥18 and ≤30 years) studying/working at the Medical and Health Sciences faculties of Eskişehir Osmangazi University. Eskişehir Osmangazi University, Eskişehir, Turkey. Prevalence study. Subjects were randomly selected to undergo KC screening using a proportional stratified sampling method. Of the 648 invited subjects, 585 (90.3%) responded to the invitation. The demographic data, medical/family history, and habits of the subjects were collected using a standardized questionnaire. Subjects were classified as KC, ectasia susceptibility, and normal based on the corneal tomography. The chi-square and Kruskal-Wallis tests were used for the analysis of categorical variables and parametric values, respectively. Risk factors for KC were determined using logistic regression analysis. Of the enrolled 585 subjects, the prevalence of KC was 2393/100 000 (2.4%, 95% CI: 1.3% to 4%), whereas that of ectasia susceptibility was 1538/100 000 (1.5%, 95% CI: 0.7% to 2.9%). Although the prevalence was much higher in males (4%, 95% CI: 1.7% to 7.7%) than in females (1.6%, 95% CI: 1.1% to 4.4%), the difference was not statistically significant (P = .09). Most (78.6%, n = 11) patients with KC were unaware of their disease. Eye rubbing (odds ratio [OR]: 3.53, P = .024) and consanguineous marriage (OR: 12.87, P = .032) were independent risk factors for KC. To the authors' knowledge, this is the first population-based KC prevalence study in a randomized sample conducted in Turkey. The prevalence of KC in Turkey was much higher than in European countries but similar to neighboring countries in the Middle East. Eye rubbing and history of consanguineous marriage were significant risk factors.

Lung adenocarcinoma concomitant with xeroderma pigmentosum: a case report

BackgroundXeroderma 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 presentationThe 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.ConclusionsAlthough 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.

Demography of corneal dystrophies at a tertiary eye care centre in South India

To report the frequency of corneal dystrophies. All patients who presented to the out-patient department were examined for signs of corneal dystrophy from January 2017 to December 2019. All patients underwent a thorough evaluation for demographics, clinical presentation, history of consanguinity, family medical history, and clinical outcome of keratoplasty (in those who required it) and a clinicopathologic correlation was attempted. Complete ophthalmological examination was conducted for all patients which included vision (distance &amp; near), slit lamp examination, retinoscopy, auto refractometer readings, dilated fundus examination, pentacam as well as anterior segment OCT. Photographic documentation was done for all dystrophy patients. During this time period we had 118 patients who were included in the study. History of consanguineous marriage was noted in 62% of the study population. History of a similar problem in siblings and other members was elicited in 27 (22.88%) and 15 (12.71%) patients, respectively. 23 patients required keratoplasty. The average follow-up of each keratoplasty case was 36±14 months. Among these cases, only 2 groups had graft failure, viz, CHED and macular dystrophy. The higher frequency of dystrophies could be due to higher consanguineous marriage, which indicates a need for counselling. Also, there is an increased need for thorough work-up before planning intraocular procedures.

Assessment of role of consanguinity in formation of cleft lip and cleft palate

Consanguinity is considered a significant factor in autosomal recessive diseases; it has also been associated with congenital anomalies such as hydrocephalus, polydactilia and Cleft Lip and Palate deformities. The risk of congenital conditions is higher in subjects born of first degree consanguineous parents compared with those of non-consanguineous marriages. The aim of this study is to evaluate the prevalence of consanguinity with formation of cleft lip/ cleft palate formation in Tamil, Telugu population. This is a retrospective study. The details of 86,000 patient records were reviewed and analysed, out of which 76 patients who had undergone surgical treatment for cleft lip and cleft palate deformities between June 2019 to march 2020 were included in this study. The details like age, gender, family history and cleft diagnosis were evaluated and entered in SPSS and analysed through a chi-square test. It was observed that 11% of patients reported with history of consanguineous marriages which was associated with formation of cleft lip/palate. Within the limits of the study, it was concluded that consanguinity had a significant role in formation of cleft lip/cleft palate.

Meckel Gruber syndrome \u2013 a case report

BackgroundMeckel Gruber Syndrome (MKS) is a rare autosomal recessive malformation syndrome characterized by multiple congenital anomalies ultimately leading to the death of fetus in utero or shortly after birth. It is characterized by classical triad of occipital encephalocele, infantile polycystic kidneys and postaxial polydactyly. Diagnosis of MKS is made on the basis of ultrasonography, gross morphology & histopathological findings. Here, we describe a case of MKS presenting with the classical triad.Case presentationA 25 year old lady presented with missed abortion at 17 weeks of gestation on her first conception. There was no history of previous fetal demise or any congenital anomaly. History of consanguineous marriage was not present. Ultra sonogram revealed death of the fetus in utero. Planned termination of pregnancy was performed & the products of conception were sent for study to the laboratory for autopsy, histopathological examination & genetic studies.ConclusionRare genetic anomalies can present with missed abortion & an understanding of the same is important considering the clinical as well as psychological strain it can have on the pregnant mother. The case moreover should be reported for it being a genetic anomaly which results in death at a young age & also for its historical value.

SUN-416 DIAGNOSING ALPORT SYNDROME IN RESOURCE LIMITED SETTING-A CASE REPORT

Glomerular disease is one of the leading cause of chronic kidney disease. Early detection of glomerular disease is important to lower the CKD burden in the society and associated with better outcome. We will present a case report of diagnosing an Alport Syndrome patient in a Low and Middle Income country –Bangladesh. We studied a 19 year old male whose elder brother died of End Stage Kidney Disease with a clinical diagnosis of Alport Syndrome (AS). This gentleman was found during the screening of family members for AS. He had on and off leg swelling, occasional smoky urine with a normal blood pressure. He gives the history of death of his teenage maternal cousin due to kidney disease. None of the deceased person of the family could reach the Renal Replacement Therapy facility due to financial constraint. His rest of the family members including parents were devoid of features of AS. No history of consanguineous marriage between parents. This gentleman had bedside proteinuria ++, Urine routine examination showed WBC 4-5/HPF, RBC 30-40/HPF, WBC Cast +, RBC cast ++. His Urine Culture and Sensitivity showed No Bacterial Growth. S Creatinine was 1.0 mg/dL and according to CKD EPI formula his eGFR was 97/ml/min/m2.. His Urine for phase contrast microscopy showed 60% dysmorphic RBC. 24 hours urinary total protein was 1.8 gm/24 hours. His Ultrasonography of Whole abdomen revealed no abnormality. Plain Xray KUB was normal. Ophthalmological evaluation revealed anterior lenticonus on both eyes. Pure Tone Audiometry revealed right sided mild sensorineural hearing loss and left sided moderate sensorineural hearing loss. His renal biopsy was done and Light microscopy showed mild mesangial proliferation with one glomerulus showed segmental sclerosis out of 17 glomeruli. Direct Immunofluorescence of renal tissue did not show any immune deposit. Electron Microscopy could not be done due to lack of facility in Bangladesh. Molecular testing for COL4 gene mutation could not be done due to non-availability in Bangladesh. Based on family history and clinical findings this 19 year old gentleman was diagnosed as Alport Syndrome. In spite of lack of resources and facility nephrologists in Bangladesh are trying to diagnose rare diseases like Alport Syndrome. If diagnostic resource is more available, rare renal diseases in Bangladeshi population will be diagnosed more efficiently.

Segmental neurofibromatosis: A report of a rare case

Neurofibromatosis (NF) is a genetic disorder with an autosomal-dominant inheritance mainly affecting the growth of the cells of the neural tissues. Segmental NF (SNF), a rare variant of NF (NF type V), is characterized by cafe-au-lait macules and freckles or neurofibromas limited to one segment or one region of the body. A 26-year-old married female presented with asymptomatic cafe-au-lait macules and freckles involving the left cervical and thoracic region. The lesions did not cross the midline. Family history was not positive. There was no history of consanguineous marriage. There was no systemic involvement. We report this case as a rare entity of NF along with multidermatomal involvement.

Combined factor V and factor VIII deficiency: A rare case report and literature review

Background: Combined factor V and factor VIII deficiency (F5F8D) is a rare autosomal recessive inherited coagulopathy. It has a higher prevalence in the Mediterranean region (1:100,000) compare to its prevalence in the general population which is estimated to be (1:1000,000). Case report: We report a 59 years old Lebanese lady who was referred from the general surgery clinic with an asymptomatic prolongation of prothrombin time (PT), international normalized ratio (INR) and activated partial thromboplastin time (aPTT) detected during preoperative work up for an elective umbilical hernia repair. The patient had history of bleeding following dental procedures since childhood as well as easy bruising with minimal trauma. Physical examination was unremarkable. haematological investigations were normal apart from the prolonged PT, INR and aPTT which were corrected following mixing studies. Factor assay revealed factor V level of 5.5% and factor VIII level of 11.9% with other factors within normal ranges confirming the diagnosis of combined F5F8D. Conclusion: Combined factor V and factor VIII deficiency should be suspected in patients with prolonged PT, INR and aPTT especially if they are of Mediterranean, Middle east or Arabic origin with a history of consanguineous marriages. Treatment is generally not indicated unless the patient has recurrent serious bleeding manifestations.

Disseminated BCG Infection and Primary Immunodeficiencies: A Report from Two Tertiary Centers

Background: One of the most serious complications of BCG immunization is disseminated BCG infection, which is suggested to occur in immunized children with underlying primary immunodeficiencies. Objectives: This study aimed to assess the clinical manifestations and underlying primary immunodeficiencies associated with disseminated BCG infection. Methods: The study enrolled 47 patients suspected of disseminated BCG infection referring to Mofid Children Hospital and Masih Daneshvari Hospital for 12 years. The patients’ records were reviewed and patients were classified into three distinctive groups of definitive, probable, or possible disseminated BCG infection. Results: Twenty-five (53.2%) patients were male and twenty-two (46.8%) were female. The mean age at onset of clinical manifestations was 4.83 months. The first presentation of the disease occurred within one year of vaccination in 28 (60%) patients. Clinical manifestations included lymphadenopathies (61%), fever (38%), hepatosplenomegaly (36%), failure to thrive (23%), skin rash (14%), chronic cough (10%), ascites (6%), and clubbing (6%). The confirmed underlying primary immunodeficiency detected in these patients were Mendelian Susceptibility to Mycobacterial Disease (MSMD; 69.56%), Severe Combined Immunodeficiency (SCID; 26%) and Chronic Granulomatous Disease (CGD; 4.3%). Conclusions: Disseminated BCG infection may be a devastating complication and an important preliminary manifestation of underlying primary immunodeficiency. Because of the wide spectrum of mortality and morbidity, as well as the socioeconomic burden on the health system, it is worth to take a careful medical history before BCG immunization particularly in families with a history of consanguineous marriage and death due to unknown etiology.

Changes in the physiological parameters of newborns in the first one hour of life

Background: The transition from a fetus to a newborn is the most complex adaptation that occurs in human experience. This study assessed three physiological parameters viz. temperature (core and peripheral), oxygen saturation and heart rate so as to avoid the delay in normal transitional adaptation.Methods: This cross-sectional observational study was done at Narayana Medical College Hospital, Nellore, Andhra Pradesh, India. A total of 150 neonates born from June 2017 to February 2018 were monitored for heart rate, oxygen saturation, core and peripheral temperature from birth to 60 minutes.Results: Most of the mother’s (45.33%) were aged between 22 to 25 years and the mean age was 23.75±3.64 years. History of consanguineous marriage was noted in 33.33%. The mode of delivery was vaginal in 70.67% of the babies. The mean gestational age was 38.74±1.36 weeks. The birth weight among 62% of the babies was between 2.5 to 3.49 Kgs and mean birth weight was 2.81±0.49 kgs. The meconium stained liquor and requirement of resuscitation was noted in 9.33% and 10.67% respectively.Conclusions: Significant difference was noted with regard to heart rate in babies with active resuscitation, low birth weight (&lt;2.5 kg), meconium stained liquor and warmer care compared to normal babies. There was variation in oxygen saturation in babies who required resuscitation and warmer care, and those who had low birth weight. The mean peripheral and core temperature were different in babies with abdominal care compared to warmer care.

Maternal occupational exposure to chemicals in the textile factory during pregnancy is associated with a higher risk of polydactyly in the offspring

Background: The number of children with polydactyly seen in our clinic is increasing. In addition to genetic factors, an influence of environmental effects during pregnancy is becoming increasingly apparent; however, epidemiological data on these effects are lacking.Methods: This hospital-based, case-control study enrolled 143 patients with polydactyly and 286 control patients with no genetic diseases, to evaluate the association between maternal exposure to a textile factory environment during pregnancy and the likelihood of giving birth to a child with polydactyly.Results: Maternal exposure to a textile factory environment during pregnancy was associated with an increased risk of giving birth to a child with polydactyly (exposure to textile factory environment: unadjusted odds ratio (OR) = 3.31, 95% confidence interval (CI) = 1.75–6.27, p = .0002; work seniority of exposed occupation: unadjusted OR 1.28, 95% CI = 1.13–1.47, p = .0002). Covariate screening indicated that certain risk factors (family monthly income per capita, mother’s emotional state during pregnancy, colporrhagia, passive smoking, smoking, and history of consanguineous marriage) were potential confounding factors. After adjusting for these variables, the OR of exposure to a textile factory environment remained significant (exposure to textile factory environment: adjusted OR = 3.08, 95% CI = 1.32–7.19, p = .0094; work seniority of exposed occupation: adjusted OR = 1.58, 95% CI = 1.20–2.08, p = .0010). The risk of polydactyly increased with the number of years of employment.Conclusions: Maternal exposure to a textile factory environment appears to be a risk factor for polydactyly in newborns.

Knowledge, Attitude and Practices of Parents of Thalassemic Children in District Patiala, Punjab, India

Introduction: β-thalassemia is an autosomal recessive single gene disorder characterized by defective production of hemoglobin and excessive destruction of Red Blood Cells. The defect causes an abnormal development of Red Blood Cells and ultimately anemia. The cultural and religious scenario in Muslims, Khatris and Punjabis migrated from Pakistan is such that consanguineous marriages are quite common. There is no concept of premarital screening of counseling of individuals with a family history of disease. The only way to prevent the disease and to reduce the morbidity and mortality is by educating the general population. For this reason, present study was taken to evaluate the knowledge, attitude and practices of parents of Thalassemic children. Objectives: To assess the Knowledge, Attitude and Practices of Parents of Thalassemic Children. Methods: The study was conducted on parents of 100 patients of thalassemia who are coming regularly for blood transfusion in Thalassemia Day Care Centre (TDCC) run by Patiala Thalassemic Children Welfare Association (PTCWA) at Rajindra Hospital, Patiala to collect the relevant data for the study to evaluate the Knowledge, Attitude and Practices (KAP) of parents of thalassemic children. Results: Mean age of the patients was 8.36 years. 66% patients were males and 34% were females. 41% of the patients were from Khatri community and 59% were from other communities. Family history of thalassemia was present in 23% of the cases and history of consanguineous marriage was present in 4% of the cases. Seventy six percent of the parents knew about the prenatal diagnosis that could be performed to prevent the birth of thalassemic children. Knowledge regarding the treatment options available was found more in parents from Bania, Khatri and Kamboj communities. More positive attitude of parents towards prevention of thalassemia was found in parents who have answered 11-15 questions from Knowledge questionnaire. Conclusion: There should be a community based educational efforts to increase awareness of this problem especially to the people from low socioeconomic class and from rural area. Control of thalassemia requires treatment of the individual patients as well as a community based educational effort to increase the awareness of this problem.

Eruptive collagenoma: A rare entity in pediatric age

Eruptive collagenoma is a rare acquired connective tissue nevus predominantly composed of collagen, with elusive incidence and etiopathogenesis. Many cases are reported in young adults, but there is a dearth of literature in children. Herein, we report a rare case of eruptive collagenoma in a 5-year-old child who presented with multiple asymptomatic papules, plaques, and nodules over the back and face with no systemic involvement. There was no positive family history or history of consanguineous marriage, and diagnosis was confirmed histopathologically. We report this case due to its rarity in Indian literature in pediatric population with facial involvement.

Registry of ocular anomalies among patients with genetic disorders in Alexandria and nearby governorates

Background The eye is second only to the brain as an individual organ in its frequency of involvement in genetic disorders. The array of ocular findings associated with developmental disorders, metabolic diseases, and chromosomal anomalies is endless. Aim To determine the prevalence and describe types of ocular malformations among patients with genetic disorders attending the Genetic Clinic of Alexandria University Children’s Hospital from January 2015 to December 2017. Patients and methods In this study, 354 patients were included. Patients’ data were collected from records as follows: the age and sex of the patients, residence, parental consanguinity, family history, pre/perinatal history, and data of general examination and ophthalmic examination. Results Of 354 patients who were enrolled in this study, 83 (23.4%) patients had genetic ocular malformations, 16 cases had corneal clouding, 15 cases of ptosis, 10 cases of strabismus, nine cases of refractive errors, and six cases of microphthalmia. The age variation in the study was between 8 days and 14 years, and 55.4% of cases were below the age of 2 years. Male : female ratio was 1.1 : 1. Overall, 61.4% of cases had positive history of consanguineous marriage, and 9% of cases had a positive prenatal history. Moreover, 4.8% of cases with ocular malformations had chromosomal abnormality, in which 3.6% were numerical (Trisomy 13) and 1.2% were structural (deletion 18q). Genetic diseases associated with ocular malformations could be classified into isolated (nonsyndromic) disorders, which represented 3.6%, and syndromic disorders, which represented the remaining 96.4% of cases. Isolated disorders included primary microcephaly (2.4%) and blepharophimosis, ptosis, and epicanthus disease (1.2%), whereas the syndromic cases included chromosomal disorders (4.8%), metabolic disorders (26.5%), syndromes with primary dermatological abnormalities (7.2%), syndromes with primary skeletal abnormalities (19.2%), syndromes with endocrine/growth retardation (28.6%), syndromes with primary neurologic abnormalities (7.2%), and others (4.2%). Conclusion Overall, 23.4% of patients with genetic syndromes had ocular malformations. The most common anomaly was congenital corneal clouding (19.3%) followed by ptosis (18%), strabismus (12%), refractive errors (10.8%), and microphthalmia (7.2%) in the order of frequency.

The First Comprehensive Study of H-Deficient Phenotypes in Iran

Summary Background: The lack of correct blood grouping practices can lead to missing of the rare Bombay Oh phenotype and subjecting patients to the risk of severe hemolytic transfusion reaction. In the absence of blood donor registry, transfusion management of patients is a challenge. We performed this study in order to estimate the prevalence of the Bombay blood group (Oh) in Iran and to determine whether consanguinity plays a role in the prevalence of Oh group. Methods: This is a descriptive study in the Immunohematology Reference Laboratory of the Iranian Blood Transfusion Organization (IBTO) Tehran, Iran, over a period of 7 years. All donor blood samples showing blood group O and a strong initial reaction with blood group O RBC control cells were tested with anti-H lectin. Also blood samples from blood group O patients were tested with anti-H lectin if all cells on both antibody screening tests and antibody identification panels were reactive with negative auto control test. Specialized tests like adsorption/elution technique and inhibition assay for determination of secretor status were performed on Oh cases. Any history of consanguineous marriages were recorded. All variables were categorical variables, and percentage and proportions were calculated manually. Results: Analysis of the results of over 7 million first-time blood donors in Iran showed that the most common ABO blood group was O, with 2,520,000 (36%) subjects. 56 Oh individuals' (donors and patients) phenotypes (0.0008%) were detected. Consanguinity was observed in 50 cases (89%). Conclusions: This study shows that the prevalence of Bombay blood group in the general population of Iran is relatively high (0.0008%) and associated with consanguineous marriage. Thus, consanguinity is still an important risk factor present.

Consanguinity increases the risk for aggressive periodontitis

Genetic predisposition is an important factor for developing aggressive periodontitis (AgP); however, previous studies only focused on individual families where consanguineous marriages have not been considered. Thus, there is a debate in the understanding of the genetic features of this disease. The present study aims to compare the genetic features of AgP in individuals with and without history of consanguineous marriages. Thirty-three probands from 16 pedigrees with history of consanguineous marriage and 17 pedigrees without history of consanguineous marriage were analyzed in terms of heritability of AgP. Detailed clinical evaluations of the probands showing their periodontal health and their family medical histories were obtained. The gingival index, plaque index, bleeding on probing, suppuration, probing pocket depth and clinical attachment level data were analyzed and compared between groups. The gender differences were also taken into account to determine the mode of inheritance of AgP. The gingival index, bleeding on probing, suppuration, probing pocket depth and clinical attachment level scores were significantly different between the affected and unaffected groups for both genders, which were consistent with the diagnosis of AgP. Strikingly, when the consanguineous group and the non-consanguineous group were compared, the siblings of the consanguineous group displayed approximately 8 times more prevalence of AgP (15.15%) compared to the siblings of the probands in the non-consanguineous group (1.89%) (P=.022). In addition, the mode of transmission of the disease was found to fit better to the autosomal recessive inheritance pattern. Current findings indicate that AgP is segregated on autosomal chromosomes and consanguineous marriage increases the likelihood of developing this disease.