Rate Of Consanguineous Marriages Research Articles

Rate of Consanguineous Marriages in Afghan Society and Its Effects on Health

Purpose: This study exposes the rate of consanguineous marriages in afghan population and its effects on the health of their children.
 Methodology: A questionnaire was designed to collect the data. A total of 2300 respondents were asked about their socio-demographic and attitude towards consanguineous marriages in which 2201 responded according to criteria. The paper describes the quantitative and qualitative types of surveys, which include field observations and doctor interviews for various positions in private and public health organizations. The target population was the Afghan Community as a whole in Afghanistan.
 Findings: By stratified sampling, the respondents highlighted that 69% married people have Paternal and maternal relationship with their partners, among which 47.4% and 33.9% have Paternal and maternal relations respectively. The data analysis exhibits that 20.1% of consanguineous couples mention that their Children have different types of congenital health defects like mental retardation, limb anomalies, stillbirth, recurrent abortion, thalassemia, albinism, cardiovascular, metabolic disorder, dental anomalies, and physical and mental disabilities. Consanguineous marriage was preferred by 66% of Afghans, while 33% of Afghans were not interested in consanguineous marriage. Big families' trend is commonly a sign of pride and honor in the Afghan community. Therefore, consanguineous marriages are widely practiced in afghan population.
 Unique Contribution to Theory, Policy and Practices: Genetics studies have recognized "consanguinity" as one of the major causes of hereditary diseases. The occurrence of congenital abnormalities, mental retardations, and physical disabilities was noted in the offspring of consanguineous couples; thus, it will be helpful to understand consanguinity as a risky practice in Afghan society.

Assessing population substructure in the Lebanese population: A population study using data on 23 autosomal short tandem repeats.

Understanding the genetic substructure of a population is essential for proper forensic genetic analysis. The Lebanese population has a high rate of endogamous and consanguineous marriages and is segregated based on religious belongings. However, no genetic population studies have been performed up to date to estimate the degree of genetic substructure and inbreeding coefficients. The present study analyzed a compendium of 23 autosomal STRs typed in 1400 individuals belonging to the seven major Lebanese religious subcommunities. Inbreeding coefficients such as F statistics were estimated. Results showed a Fst (theta) value of 0.002, indicating a low genetic subdivision within the Lebanese population. This study aimed at assessing the genetic substructure of the Lebanese population by analyzing 1400 Lebanese citizens' samples using 23 STR markers. F statistics were computed to evaluate the degree of genetic substructure. Results showed a Fst value of 0.002, indicating a low genetic subdivision within the Lebanese population.

Epidemiological and Spatiotemporal Descriptive Analysis of Patients with Nonsyndromic Cleft Lip and/or Palate: A 12-Year Retrospective Study in Southern Iran.

The current study is aimed at evaluating epidemiological characteristics and spatiotemporal distribution of cleft lip and/or palate (CL/P) in the south of Iran. Data were extracted from the 1840 medical records of patients who were referred to the Cleft Lip and Palate Center of Shiraz University of Medical Sciences, from January 1, 2011, to September 1, 2022. The collected variables included demographic data (gender, birth date and season, place, birth order, and weight), cleft types and the subtypes, parental information (health status, education level, marital status, and age during the pregnancy), and other basic parameters. The chi-square test at a significance level of 0.05 was used to analyze collected data. The geographic information system (GIS) analysis was also used for analyzing the spatial distribution of CL/P patients. Based on our inclusion criteria, 1281 nonsyndromic patients were included in this study. The most common type was cleft lip and palate (CLP) with 48.32%, whereas cleft palate (CP) and cleft lip (CL) accounted for 40.75% and 10.93% of the patients, respectively. There was a progressive increase in the frequency of all types of clefts, and most of them were male (P ≤ 0.001). The urban population outnumbered the rural ones in all provinces. Parents were mostly healthy (>80%) with low educational status (47.5%). Most born CL/P patients were from consanguineous marriages (58.9%), especially between first-degree relatives. A majority of CL/P patients (73.1%) were born in the first two gestations with a birth weight of 2500-4000 g (77.4%). Most infants with CL/P (84.3%) were born from mothers who had at least one of the predisposing factors. In this study, the frequency of cleft types and subtypes was similar to the existing literature. However, high rate of consanguineous marriage, especially between first-degree relatives, was the most notable feature of this population.

The prevalence of undiagnosed thalassemia minor among primigravida pregnant women before 20 weeks of gestation.

Pregnancy-associated anemia is a widespread condition that can have varying impacts on both the mother and the developing fetus, depending on the level of hemoglobin in the mother's blood and the stage of pregnancy at which the anemia occurs. In Iraq, 27% of all registered thalassemia cases are thalassemia minor. Pregnancy may aggravate mild undiagnosed thalassemia early in pregnancy. The objective of the study was to access the prevalence of undetected thalassemia minor in primigravida women who received prenatal care before 20 weeks and to compare the demographic and socioeconomic characteristic features between women with iron-deficiency anemia (IDA) and those without any anemia. A total of 298 primigravida women who attended prenatal care at 20 weeks or less were recruited and their hematocrit level was assessed. Participants were segregated into two groups regarding the presence of anemia. Patients who had packed cell volume lower than 33% underwent iron study and standard Hb electrophoresis. Information about women's demographics, socioeconomic status, and family history of hereditary anemia were recorded. The participants had a mean age of 22.7 years, with an age range spanning from 16 to 43 years. 33.33% of 298 women had pathological anemia. All the participants exhibited microcytic anemia, with 26.85%, had confirmed IDA, whereas 6.71% had β thalassemia minor (BTM) phenotype. Both BTM and IDA patients frequently reported a positive family history of anemia at 80% and 68.7%, respectively, which was significantly greater than the control group at 39.9% (P = 0.001). No significant differences were seen between BTM and IDA in terms of age or socioeconomic status. Anemia due to undetected thalassemia minor was common among primigravida women. Screening for BTM carriers pregnant can help in monitoring their status, assessing the fetus's risk of developing thalassemia, and making a diagnosis in communities with high rates of consanguineous marriages, such as Iraq.

Knowledge and Attitudes towards Thalassemia among Public University Students in Bangladesh

Background: Thalassemia is the most common congenital single-gene condition globally, characterized by a lack of or reduced synthesis of either the α- or β-globin chains and passed down from parents to offspring. This study aimed to determine the level of knowledge of thalassemia among Bangladeshi students from universities and their opinion on prevention. Methods: A cross-sectional descriptive online survey was conducted on public university students in Bangladesh using a structured questionnaire between June and November 2020, completed by students online. Demographic characteristics, knowledge, and attitude of the participants were assayed with 10 questions on each topic. The data were analyzed using Python. Descriptive statistics methods such as frequencies and percentages were used to present data. Result: A total of 681 students participated in the online survey. The average age of the respondents in this study was 21.97 years, with a standard deviation of 2.9. Most of the students, 611(89.72%), had heard about Thalassemia, yet only 248 (36.42%) students had good knowledge of Thalassemia. The knowledge level of students had no significant relationship with sex (p-value = 0.0819), marital status (p-value = 0.2281), and year of study (p-value = 0.4619), but had a considerable difference with the field of study (0.0042). However, 478 (78.36%) participants showed a positive attitude toward "Premarital Screening" to prevent Thalassemia. Conclusions: Long-term and target-based preventive initiatives are recommended for university students and the general population of Bangladesh, where the rate of consanguineous marriage is high. These initiatives would provide crucial information and increase awareness of premarital screening and genetic counseling to prevent thalassemia.

Patterns of inheritance and diagnostic features of spinal muscular atrophy, in areas with high rates of consanguineous marriages.

Objective: To explore the diagnostic features and inheritance patterns of spinal muscular atrophy (SMA) in children at three tertiary care public hospitals. Study Design: Retrospective study. Setting: HITEC Institute of Medical Sciences Taxila Cantt. Period: January 2022 to March 2022. Material & Methods: A retrospective review of the medical records of the past ten years from January 2011 to December 2020 of three tertiary care public hospitals was conducted. Socio-demographic characteristics, consanguinity, and diagnostic features (including genetic investigation) were also considered. Results: A total of 70 children were diagnosed with SMA during the research study period and the most prevalent variation found among them was Werdnig Hoffmanver illness (SMA type I), affecting 40-57 percent of the children. The study found that 67 percent of the research group showed a high level of paternal consanguinity. The deletion of a gene, survival motor neuron (SMN1) was discovered in 21 (88%) genetically tested children out of 24, while 17 (71%) genetically studied patients were found to be positive for the deletion of specific apoptotic proteins called neuronal apoptosis inhibitory proteins (NAIP). Conclusion: In our study, SMA type 1 is the most prevalent. This piece of literature emphasizes the importance of antenatal detection and the need to increase awareness among high-risk societies with prevalent consanguineous marriages like Pakistan to lessen the disease load.

Consanguinity and Increased Risk of Congenital Ptosis: A Case-Control Study from Southern Iran.

To assess consanguinity as a probable risk factor for congenital ptosis. In this case-control study, 97 patients with congenital ptosis and 97 participants as the control group were included. The age, sex, and residence area of the control group were matched with the cases. The inbreeding coefficient (F) was calculated for each participant, and the mean of the inbreeding coefficient (α) was calculated for each group. The prevalence of consanguineous marriage in parents of cases with congenital ptosis and those of the control group was 54.6% and 30.9%, respectively (P < 0.002). The mean of the inbreeding coefficient (α) in patients with ptosis was 0.026, whereas it was 0.016 in the control group (T = 2.51, degree of freedom = 192, P = 0.0129). The rate of consanguineous marriage was significantly higher among the parents of patients with congenital ptosis. It implies a probable recessive pattern in the etiology of congenital ptosis.

Evaluation of clinical and electroencephalographic findings in patients with early childhood epilepsy and inborn errors of metabolism

Epilepsy is one of the leading chronic diseases of childhood, and an underlying IEM is an etiology that can easily be overlooked. The aim of this study was to determine the frequency of metabolic disease in patients diagnosed with epilepsy in the first two years of life, as well as to determine the clinical, radiological, and electroencephalographic (EEG) characteristics of the metabolic disease subtypes associated with epilepsy and evaluate treatment response in our study. The records of patients diagnosed with epilepsy before the age of 2years in our pediatric neurology clinic between 2014 and 2021 were reviewed retrospectively. Those diagnosed with an IEM and followed up in the pediatric neurology and pediatric metabolism departments of our hospital were included in the study. A total of 990 patients under the age of 2years were diagnosed with epilepsy in the pediatric neurology clinic of our hospital and 74 (7.5%) of them had IEM. Thirty-nine (52.7%) of the 74 patients were female. The median age at admission was 144days (min-max: 0-284). Of the 74 patients diagnosed with metabolic epilepsy, 38 patients were diagnosed with amino acid metabolism disorder, 17 with lysosomal storage disease, 9 with energy metabolism disorder, 5 with vitamin/cofactor/trace element metabolism disorders, 2 with fatty acid metabolism disorder, 2 with peroxisomal disease, and 1 with carbohydrate metabolism disorder. Epilepsy was refractory despite appropriate treatment in 39 patients (52.7%). Inborn errors of metabolism are a rare cause of epilepsy, in regions like our country with high rates of consanguineous marriage, IEM should be considered in patients presenting with seizures that do not respond to conventional antiepileptic treatments.

Social norms and the gender gap in labor force participation: Evidence from Turkey

ABSTRACT We use a novel two-step empirical strategy to examine the relationship between social norms and the gender gap in labour force participation (LFP) across provinces of Turkey. In the first step, we identify the unexplained part of the gender gap in LFP that remains after accounting for differences in observed characteristics between women and men for each province by implementing a decomposition method. In the second step, we investigate the role of social norms in explaining cross-province variation in the unexplained part. The results reveal that more egalitarian gender role attitudes, smaller gender gap in tertiary education, lower fertility and consanguineous marriage rates, and lower level of religiosity significantly predict a smaller unexplained part of the gender gap in LFP favouring males.

EVALUATION OF SOCIODEMOGRAPHIC FEATURES AND ANXIETY LEVELS OF PREGNANT ADOLESCENT AND ADULT PREGNANCY

ABSTRACT&#x0D; Objective: In this study, it was aimed to examine some sociodemographic characteristics and state trait anxiety levels of adolescent and adult pregnant women.&#x0D; Methods: The research was carried out in three health center regions affiliated to Kayseri Melikgazi Health Group Presidency. A total of 2100 births took place in this region of health centers in 2007. By taking the adolescent pregnancy frequency of 10% and the minimum acceptable value of 5%, it was calculated that 138 individuals should be included for the 95% confidence interval with the Epi Info 6.0 program. A total of 300 pregnant women were included in the study. 132 of the pregnants are adolescent pregnants and 168 of them are non-adolescent pregnants. The data were collected by the researcher through face-to-face interviews. Data; It consists of an information form consisting of 23 questions related to sociodemographic characteristics and reproductive health, and State and Trait Anxiety scale questions. The data were transferred to the SPSS program and analyzed. Chi-square and student-t tests were used in the analysis.&#x0D; Results: When the mean age at marriage was examined, it was found that adolescent pregnant women (16.6± 0.9) were much lower than non-adolescents (20.6± 3.1).All of the spouses of non-adolescent pregnant women are working, and 22.7% of the spouses of adolescent pregnant women do not have a job. At the same time, the monthly average income of non-adolescent pregnant women is higher than that of adolescent pregnant women. The rate of consanguineous marriage in adolescent pregnant women was found to be 28%. The mean of the state and trait anxiety scale is inversely proportional to the education level of the participants, and the mean of the scale decreases as the education level increases. The rate of not completing primary school was quite high in adolescent pregnant women and it was determined as 43.2%. This rate is 4.2% in non-adolescent pregnant women.&#x0D; Conclusion: Higher anxiety is observed due to the low level of education of pregnant adolescents who have not yet completed their own development.

Diagnosis of primary immunodeficiency diseases in pediatric patients hospitalized for recurrent, severe, or unusual infections.

Primary immunodeficiency diseases (PID) usually presents itself with recurrent, severe, and unusual infections, along with autoimmunity and various other malignancies. But, the diversity of PID often makes the diagnosis of patients difficult for physicians other than clinical immunologists. This study aimed to describe the characteristics of patients diagnosed with PIDs during the inpatient treatment for infectious diseases, and to highlight the cases in which a PID diagnosis should be considered. The clinical, immunological, and molecular features of 81 pediatric patients treated for infectious diseases, who were diagnosed with a PID during hospitalization was retrospectively analyzed. The diagnosis was based on the PID criteria of the International Union of Immunological Societies. The five main PID sub-types were identified. Predominantly, antibody deficiencies were the most common (61.7%) group. The average delay in diagnosis was 34.6 months, and the positive family history rate was 24.7%, while the consanguineous marriage rate was 45.7%. Around thirty-five (43%) patients were found to have mutated PID-related genes. While lower respiratory tract infections were the most common symptom, a fever of unknown origin was another remarkable diagnosis. Eight (9.9%) patients underwent allogeneic hematopoietic stem cell transplantation. Clinicians should consider a PID diagnosis, especially in the cases of recurrent, severe, or atypical infections. Increased knowledge of the alarm features of PID can promote early diagnosis.

MO020: Rare mutation of the IQGAP1 protein in an Algerian family with corticosteroid-resistant nephrotic syndrome

Abstract BACKGROUND AND AIMS There is podocyte involvement in corticosteroid-resistant nephrotic syndrome. A certain number of proteins play an essential role in the biology of the podocyte; the mutation of these proteins generates the aforementioned pathology. The aim of this work is the determination of the rare mutation of the IQGAP1 protein, which is a protein involved in the remodeling of the actin cytoskeleton of the podocyte. METHOD We identified six patients in our family with corticosteroid-resistant nephrotic syndrome, including one death with four adults and two children from a consanguineous marriage with autosomal recessive transmission. It was noted that three deaths of unknown etiologies were reported at a very young age. RESULTS The patients had corticosteroid-resistant nephrotic syndrome. Nephrotic syndrome is discovered at the age of 4 years on average for two children and 20 years for four adults. Kidney biopsy showed minimal glomerular damage at 19%, mesangial proliferation at 6% and segmental and focal hyalinosis at 71%. The extra-renal manifestations observed were linked to complications of chronic renal failure. Alteration of the expression of IQGAP1 or of its cellular location, as well as structural or functional alterations of the protein could lead to abnormal interactions between the different complexes of the podocyte and the cytoskeleton; the specificity of the study is the discovery of an SNCRF in patients where they have only one mutation of the IQGAP1 gene without mutation of the other IQGAPs (2 and 3). CONCLUSION We have a very high consanguineous marriage rate, which explains why the transmission of recessive diseases is very important. The mutation of the IQGAP1 protein is inherited in an autosomal recessive fashion. A genetic investigation is essential. IQGAP1 can therefore be considered to be a factor influencing the progression of glomerulopathies.

Incorporation of second-tier tests and secondary biomarkers to improve positive predictive value (PPV) rate in newborn metabolic screening program.

BackgroundNowadays, neonatal screening has become an essential part of routine newborn care in the world. This is a non‐invasive evaluation that evaluated inborn errors of metabolisms (IEMs) using tandem mass spectrometry (LC‐MS/MS) for the evaluation of the baby's risk of certain metabolic disorders.MethodsThis retrospective study was conducted on 39987 Iranian newborns who were referred to Nilou Medical Laboratory, Tehran, Iran, for newborn screening programs of IEMs. We incorporated second‐tier tests and secondary biomarkers to improve positive predictive value (PPV).ResultsStatistical data were recorded via call interviewing in 6–8 months after their screening tests. The overall prevalence of IEM was 1:975. The mean age of all participants was 3.9 ± 1.1 days; 5.1% of participants were over 13 days and 7.7% were preterm or underweight. A total of 11384 (29.4%) of the cases were born in a consanguineous family. The type of delivery was the cesarean section in 8332 (51.3%) valid cases. The neonatal screening results had an overall negative predictive value (NPV) of 100% and the overall PPV of 40.2%. The false‐positive rate was 0.15%.ConclusionThis study showed a high incidence of metabolic disease due to a high rate of consanguineous marriages in Iran and indicated that incorporation of second‐tier tests and secondary biomarkers improves PPV of neonatal screening programs.

Lessons Learned From Five Years of Newborn Screening for Severe Combined Immunodeficiency in Israel

Implementation of newborn screening (NBS) programs for severe combined immunodeficiency (SCID) have advanced the diagnosis and management of affected infants and undoubtedly improved their outcomes. Reporting long-term follow-up of such programs is of great importance. We report a 5-year summary of the NBS program for SCID in Israel. Immunologic and genetic assessments, clinical analyses, and outcome data from all infants who screened positive were evaluated and summarized. A total of 937,953 Guthrie cards were screened for SCID. A second Guthrie card was requested on 1,169 occasions (0.12%), which resulted in 142 referrals (0.015%) for further validation tests. Flow cytometry immune-phenotyping, T cell receptor excision circle measurement in peripheral blood, and expression of TCRVβ repertoire for the validation of positive cases revealed a specificity and sensitivity of 93.7% and 75.9%, respectively, in detecting true cases of SCID. Altogether, 32 SCID and 110 non-SCID newborns were diagnosed, making the incidence of SCID in Israel as high as 1:29,000 births. The most common genetic defects in this group were associated with mutations in DNA cross-link repair protein 1C and IL-7 receptor α (IL-7Rα) genes. No infant with SCID was missed during the study time. Twenty-two SCID patients underwent hematopoietic stem cell transplantation, which resulted in a 91% survival rate. Newborn screening for SCID should ultimately be applied globally, specifically to areas with high rates of consanguineous marriages. Accumulating data from follow-up studies on NBS for SCID will improve diagnosis and treatment and enrich our understanding of immune development in health and disease.

Evaluation of exonic copy numbers of SMN1 and SMN2 genes in SMA

SMA is a neuromuscular disease and occurs primarily through autosomal recessive inheritance. Identification of deletions in the SMN1 gene especially in the exon 7 and exon 8 regions (hot spot), are used in carrier testing.The exact copy numbers of those exons in the SMN1 and SMN2 genes in 113 patients who presented with a pre-diagnosis of SMA were determined using MLPA method. We aimed to reveal both the most common copy number profiles of different SMA types.It was found that the frequency of homozygous deletions in SMN1 was 15.9%, while heterozygous deletions was 16.9%. The most common SMN-MLPA profile was 0–0-3–3. In the cases with homozygous deletion, SMA type III diagnosis was observed most frequently (44%), and the rate of consanguineous marriage was found 33%. Two cases with the same exonic copy number profile but with different clinical subtypes were identified in a family. We also detected distinct exonic deletion and duplication MLPA profiles for the first time.We created “the SMA signature” that can be added to patient reports. Furthermore, our data are important for revealing potential local profiles of SMA and describing the disease in genetic reports in a way that is clear and comprehensive.

Unawareness; The Reason of Delayed Diagnosis of Niemann Pick Disease Type C and the Birth of Another Involved Sibling

Background: Niemann-Pick disease type C (NPC) is an autosomal recessive neurovisceral lysosomal storage disorder resulting from mutations in either the NPC1 or the NPC2 gene. It shows a broad spectrum of clinical phenotypes and a variable age at diagnosis. As most patients have normal routine examinations (MRI, cerebrospinal fluid, electrophysiology, and so on), its diagnosis is often a challenge, and the start of treatment delays for several years. Case Report: We reported a 9-year-old boy who presented with Stuttered speech, hepatosplenomegaly, and up and downward gaze palsy whose Niemann Pick disease was not diagnosed during infancy due to unawareness. Dried blood spot assay and genetic study confirmed the diagnosis of Niemann Pick disease type C. Conclusion: Due to the high rate of consanguineous marriages and NPC presentation with atypical phenotypes, more educational programs for pediatricians, hematologists, neurologists, endocrinologists, and clinicians help the appropriate and timely diagnosis and prevent another involved sibling.

Clinical and Genetic Survey for Charcot-Marie-Tooth Neuropathy Based on the Findings in Turkey, a Country with a High Rate of Consanguineous Marriages

Inherited peripheral neuropathies (IPNs) are a heterogeneous group of disorders of the peripheral nervous system. The most common type of IPN is Charcot-Marie-Tooth (CMT) disease, which constitutes an interesting research focus for neurologists and human geneticists alike. Most cases with CMT manifest with a slowly progressive symmetric distal weakness in the lower limbs that usually begin in the first to the third decade that causes atrophy and foot drop. Deep tendon reflexes are usually absent or reduced. A proven and efficient CMT therapy is yet available and may require different molecules and approaches due to its high clinical and genetic heterogeneity. Several ongoing clinical trials are promising and are mostly focused on the most frequent form, namely CMT Type 1A (CMT1A). Approximately, 60% of patients with CMT can be genetically diagnosed using the most advanced mutation screening techniques that cover approximately 100 IPN genes. Turkey has a 25% consanguineous marriage rate, and nearly 60% genetic diagnosis rate can still be reached when SH3 Domain and Tetratricopeptide Repeat Domain 2, Ganglioside-induced Differentiation-Associated Protein 1, and Histidine Triad Nucleotide Binding Protein 1 genes are also screened along with Myelin Protein Zero and Gap Junction Protein Beta-1 after exclusion of CMT1A duplication in families with probable recessive inheritance. The genetic diagnosis rates in different regions worldwide implicate that the most recent sequencing techniques should be more commonly used for both diagnosis and identification of further CMT genes. Herein, presented our 30 years of experience on genetic diagnosis and management strategies in CMT neuropathy in Turkey and review clinical and genetic features of this group of disorders.

Effect of Women’s Status on Consanguinity in the Arab Society of Israel

Background: Consanguinity is a traditional phenomenon that is common in many communities worldwide. In Arab countries, its prevalence is considered to be high, despite its decrease in some Arab societies. According to the Arab society in Israel, the rates of consanguineous marriages (CMs) recently were found to be increasing in the last decade. Generally, various socio-demographic factors play an important role in determining the prevalence rates of consanguineous marriages. Objective: The purpose of the current study is to determine the prevalence rates of consanguineous marriages among the Arab society in Israel, relating to various women’s socio-demographic factors. The study explored the effect of wives’ age at marriage, their educational attainment, their employment, and their income level on consanguinity in this community. Method: The data were obtained from a health national survey that was carried out during the year 2017, among the Arab society in Israel. The subjects supplied the required information about themselves through personal face-to-face interviews using a survey questionnaire prepared specifically for this purpose. A detailed analysis was conducted to determine statistical significance. Result: It was observed that the prevalence rate of consanguineous marriages among the women from the Arab society in Israel seems to be high (~42%). Furthermore, the prevalence rates of CMs were found to be inversely proportional to the wife’s age at marriage and their educational attainment. A significant difference could be detected between the rates of CMs and non-CMs in relation to wife’s employment factor and wife’s income level (i.e., 70% of the employed women had non-CMs and 65% of the high wife’s income level had non-CMs). Conclusion: Our findings demonstrated that women’s status played a vital role in the prevalence rates of CMs, thus, we recommend the improvement of the various women-related socio-demographic factors.

Kongenitalna afibrinogenemija kod novorođenčeta

Introduction: Congenital afibrinogenemia is a rare coagulation disorder characterized by a deficiency in the fibrinogen molecule. Fibrinogen is a hexameric glycoprotein consisting of a polypeptide chain encoded by FGB, FGA, and FGG and is required for normal hemostasis. Changes in FGA, FGB, and FGG may affect fibrinogen at different levels. As a result of these changes, fibrinogen cannot be detected in the blood. Clinical manifestations of such changes range from asymptomatic to life-threatening bleeding or thromboembolic events. Since it is an autosomal recessive disease, the risk is higher in children whose parents are related. Therefore, the disease is more common in regions where consanguineous marriage rates are high. Diagnosis is made by laboratory tests that show the absence of fibrinogen. These patients need to be treated with fibrinogen replacement therapy. Case presentation: This study reports the case of a newborn with congenital afibrinogenemia. The baby born from a first-degree consanguineous marriage was referred to our hospital due to bleeding and ecchymosis, and afibrinogenemia was diagnosed after coagulation tests were performed. Blood samples of the patient and his parents were sent to the Genetic Diseases Diagnosis Center for a genetic diagnosis of afibrinogenemia. A new homozygous mutation of FGB exon 7: c.1220c &gt; t (p.t407 m) (p.thr407 met) was identified in the patient. The patients' parents were heterozygous for the same mutation. Prophylaxis was not recommended for our patient who was asymptomatic in the follow-up. Conclusions: We present the case of a hemorrhagic neonatal patient diagnosed with congenital afibrinogenemia and emphasize that fibrinogen testing should be included in the evaluation of such patients. Furthermore, congenital fibrinogen disorders may be more severe when caused due to unknown specific mutation genes. Therefore, a more center-involved genetic analysis is required to identify undiagnosed fibrinogen and fibrinogen mutations.

The Role of Thyroid Scintigraphy in Infants with Congenital Hypothyroidism: Our Experience at Royal Hospital, Oman

Objectives: The early diagnosis and treatment of congenital hypothyroidism is critical, to avoid detrimental outcomes such as mental retardation. Thyroid stimulating hormone (TSH) level is the usual diagnostic screening test; however, thyroid scintigraphy helps identify etiologies of the disease there by determining different management plans. The aim of this descriptive retrospective study is to evaluate thyroid scintigraphy findings in newborns and children with biochemical evidence of congenital hypothyroid and to assess the impact of thyroid scintigraphy findings on the long-term management of those patients. Methods: Retrospective review of 101 infants with congenital hypothyroidism (CH) who were initially diagnosed biochemically, and then underwent thyroid scintigraphy, between 2010 and 2015 at a tertiary hospital in Oman. Patients’ data was collected from the hospitals’ database and then analyzed using statistical package for social sciences (SPSS). Results: 8.9 % (9/101) patients had the thyroid scintigraphy up to 7 days of life, whereas 91.1% (92/101), were performed after the age of 3 years. The performed scintigraphy revealed five different findings which included dyshormonogenesis, ectopia, agenesis, reduced and normal % of Tc-99m pertechnetate uptake in the thyroid gland. The most common cause of congenital hypothyroidism in this cohort was ectopic sublingual thyroid, 32.6% (33/101), and the ratio of female to male was 1.29:1, in keeping with international figures. However, in this cohort the Dyshormonogenesis was the cause of congenital hypothyroid in 29.7% (30/101) patients, which is higher than that known internationally and can be probably attributed to the high rate of consanguineous marriage in the country. 39.6% (40/101) patients required alteration in management (increase or decrease thyroid hormone dosage, start, or discontinue the treatment) based of thyroid scintigraphy, US and serial TFT. There was a statistical significance (p-value= 0.000) between scan findings and the need to change the treatment plan following the scan. Conclusion: Thyroid scintigraphy is an essential part of screening program for congenital hypothyroidism and useful in differentiating the causes of congenital hypothyroidism thus essential for proper management plans. We, therefore, highly advise to increase the awareness of early utilization of thyroid scintigraphy in congenital hypothyroidism screening.