scholarly journals Identical twins with lumbosacral lipomyelomeningocele

2015 ◽  
Vol 15 (1) ◽  
pp. 92-95 ◽  
Author(s):  
Sara Hanaei ◽  
Farideh Nejat ◽  
Abolghasem Mortazavi ◽  
Zohreh Habibi ◽  
Arash Esmaeili ◽  
...  
Keyword(s):  
Risk Factors ◽  
Environmental Factors ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
Birth Defect ◽  
Identical Twins ◽  
Multifactorial Disease ◽  
Familial History ◽  
History Of ◽  
Genetic And Environmental Factors

Lipomyelomeningocele, a congenital spine defect, is presented as skin-covered lipomatous tissue that attaches to the cord in different ways according to its subtypes. Unlike other types of neural tube defects, the exact cause of this birth defect has not been confirmed yet, but it is proposed to be a multifactorial disease with involvement of both genetic and environmental factors. The authors describe identical twins with lipomyelomeningocele of the same subtype and location without any familial history of similar abnormality. Therefore, the same genetic and/or environmental risk factors could have played a part in their condition.

scholarly journals Profile of Hypospadias Cases in Central Java, Indonesia

2015 ◽  
Vol 1 (1) ◽  
pp. 16
Author(s):  
Ziske Maritska ◽  
Ardy Santosa ◽  
Mahayu Dewi Ariani ◽  
Achmad Zulfa Juniarto ◽  
Sultana MH Faradz
Keyword(s):  
Risk Factors ◽  
Family History ◽  
Environmental Factors ◽  
Observational Study ◽  
Maternal Age ◽  
Genetic Factors ◽  
Multifactorial Disease ◽  
Central Java ◽  
Birth Characteristics ◽  
History Of

Background: Hypospadia is believed to be a multifactorial disease.  The risk factors that may induce the formation of hypospadias are environmental factors, endocrine disruptors, and genetic factors. The aim of this study was to describe the profile of hypospadias patients who visited the Center for Biomedical Research (CEBIOR), Faculty of Medicine, Diponegoro University, Semarang, Indonesia.Methods: This study is an observational study, using patients’ medical record in CEBIOR from 2010 to 2012. The hypospadias cases were classified into syndromic, isolated and severe hypospadias based on their phenotype. The history of pregnancy, birth characteristics, and family history of the patients were described.Results: There were 120 cases of hypospadias, consisted of 48.33% severe hypospadias, 41.67% mild isolated hypospadias and 10% syndromic hypospadias. There were 38.33% hypospadias cases whose mothers were being exposed to repellant usage and 39.17% cases whose fathers were smoking. Forty (33.33%) probands’ mothers were aged above 35 years old when they gave birth to their affected son.Conclusion: Majority of hypospadias cases were severe and mild isolated. Environtmental factors including maternal age more than 35 years old, use of repellant, and smoking fathers were found in this study.  

scholarly journals Surveillance survey of family history in children with neural tube defects

2017 ◽  
Vol 19 (6) ◽  
pp. 690-695 ◽  
Author(s):  
Esther B. Dupépé ◽  
Daxa M. Patel ◽  
Brandon G. Rocque ◽  
Betsy Hopson ◽  
Anastasia A. Arynchyna ◽  
...  
Keyword(s):  
Risk Factors ◽  
Family History ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
Positive Family History ◽  
Cns Disorders ◽  
Paternal Lineage ◽  
First Degree Relatives ◽  
The Family ◽  
History Of

OBJECTIVE Although there are known risk factors for the development of neural tube defects (NTDs), little is known regarding the role of family history. The authors' goal in this study is to describe the family history in their population of patients with NTDs. METHODS Surveys were completed for 254 patients who were accompanied by their biological mother during their annual visit to the multidisciplinary Spina Bifida Clinic at Children's of Alabama. An NTD has been diagnosed in all patients who are seen in this clinic (myelomeningocele, lipomeningocele, split cord malformation, and congenital dermal sinus tract). Each mother answered questions regarding known NTD risk factors and their pregnancy, as well as the family history of NTDs, other CNS disorders, and birth defects. RESULTS The overall prevalence of family history of NTDs in children with an NTD was 16.9% (n = 43), of which 3.1% (n = 8) were in first-degree relatives. In patients with myelomeningocele, 17.7% (n = 37) had a positive family history for NTDs, with 3.8% in first-degree relatives. Family history in the paternal lineage for all NTDs was 8.7% versus 10.6% in the maternal lineage. Twenty-two patients (8.7%) had a family history of other congenital CNS disorders. Fifteen (5.9%) had a family history of Down syndrome, 12 (4.7%) had a family history of cerebral palsy, and 13 (5.1%) patients had a family history of clubfoot. Fourteen (5.5%) had a family history of cardiac defect, and 13 (5.1%) had a family history of cleft lip or palate. CONCLUSIONS The family history of NTDs was 16.9% in children with NTD without a difference between maternal and paternal lineage. This high rate of positive family history suggests that genetics and epigenetics may play a larger role in the pathogenesis of NTD in the modern era of widespread folate supplementation.

scholarly journals Can Celiac Disease Be Prevented?

2021 ◽  
Vol 12 ◽  
Author(s):  
Renata Auricchio ◽  
Riccardo Troncone
Keyword(s):  
Risk Factors ◽  
At Risk ◽  
Celiac Disease ◽  
Environmental Factors ◽  
Autoimmune Disorder ◽  
Economic Consequences ◽  
History Of ◽  
Genetic And Environmental Factors ◽  
First Year Of Life ◽  
Variable Combination

Celiac disease (CD) is an autoimmune disorder triggered by gluten in genetically susceptible individuals characterized by a variable combination of gluten-dependent symptoms, presence of specific autoantibodies and enteropathy. The health burden of CD is considerable, as it reduces quality of life  and, at a societal level, has extensive negative economic consequences. Prevention strategies are based on the identification of at-risk subjects and identification and elimination of risk factors. A number of prospective observational and interventional studies conducted on the general population, and more often in subjects at-risk, have given important information on the natural history of the disease. Both genetic and environmental factors have been identified with the former, in particular histocompatibility genes, playing a major role. Environmental factors, some operating already before birth, have been identified, with feeding pattern in the first year of life (breast feeding, amount and time of introduction of gluten) and infections being the most relevant. Prospective studies have also allowed the identification of biomarkers predictive of the disease which in perspective could better define the population on which to intervene. Interventions have been so far limited to modifications of feeding patterns. However, as also learnt from diseases that share with CD genetic risk factors and mechanisms of damage, such as type 1 diabetes (T1D), future strategies may be envisaged based on protection from infections, manipulation of microbiota, intervention on T cells.

scholarly journals NEURAL TUBE DEFECTS (NTDS);

2017 ◽  
Vol 24 (12) ◽  
pp. 1878-1883
Author(s):  
Nadeem Shahzad ◽  
Afshan Riaz ◽  
Uzma Ameer ◽  
Daniyal Nadeem
Keyword(s):  
United States ◽  
Risk Factors ◽  
Family History ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
Previous History ◽  
The United States ◽  
Control Group ◽  
Positive History ◽  
History Of

Background: The most common congenital malformations are Neural tubedefects (NTDs) occurring in 0.6 per 1,000 live births in the United States, and almost 4000pregnancies are recorded of babies with neural tube defects, among them anencephalyand Spina bifida are the most common and their annual incidence is 2,500 to 3,000 births inthe United States. The etiology of NTDs is still an enigma, however, in the past few decadesvaluable advances has been made in understanding the causation and measures to preventNTDs and many risk factors are indentified which are associated with it. Objectives: This studywas designed to determine the risk factors and their association with neural tube defects. StudyDesign: Case control study. Place and Duration of Study: This study was conducted at unit111 Lady Willingdon Hospital Lahore and duration was one year from 1.1.2016 to 31.12.2016.Methodology: A total of 120 mothers were included in the study, of which 30 were having ofbabies delivered with NTDs, matched with 90 mothers delivered babies without NTDs (Threecontrols for each NTD case). Informations were collected on special Performa, data was analyzedon SPSS version 20. Results: Majority of the patients in both groups were found between 31-40 years of age, 43.33 %( n13) in patients with NTD group and 56.67 %( n51) in controls whileonly 16.67% (n5) in NTD and 17.78 % (n16) were found between 21-30 years. The mean agewas recorded as 33.06+1.21 and 32.12+ 0.89 respectively. Regarding parity, 23.33% (n7) werefound between P1-2, 26.67% (n11) were P2-3 while 40% (n12) with Parity >4 in the NTD group,while 21.11% (n19) were p1-2, 37.77% (n 34) with P 3-4 and 41.12% (n37) were P >4 in controlgroup. 86.67% (n 26) were found with poor economic status and 13.33% (n4) were found withrich status in NTDs, while 18.89% (n17) were found with poor and 81.11% (n73) with rich statusin control group. Distribution of fetuses according to their gender revealed that 20% (n6) weremales, and 80% (n24) were females in NTDs while 47.77 %( n43) were found males and 52.23%(n47) were females in controls. Regarding family history 80% (n24) with positive history of NTDsin patients of NTD group and 20% (n6) with no history while 4.44% (n4) had positive history and95.56% (n86) had no familial history of NTD in control cases. About previous history of NTDs,93.33% (n28) were found with positive previous history of NTDs and only 6.67% (n2)with noprevious history of NTDs in NTD group, while only 5.56% (n5) were found with positive previoushistory of NTDs and 94.44%(n85) with no previous history in controls. Conclusions: Poor socioeconomic status, family history and previous history of a baby with Neural tube defects are themajor risk factors.

scholarly journals Risk factors associated to neural tube defects among mothers who gave birth in North Shoa Zone Hospitals, Amhara Region, Ethiopia 2020: Case control study

PLoS ONE ◽  
2021 ◽  
Vol 16 (4) ◽  
pp. e0250719
Author(s):  
Aynalem Gashaw ◽  
Sisay Shine ◽  
Osman Yimer ◽  
Melat Wodaje
Keyword(s):  
Risk Factors ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
Associated Factors ◽  
Case Control Study ◽  
Chemical Exposure ◽  
Case Control ◽  
Factors Associated ◽  
History Of ◽  
Control Study

Introduction Neural tube defects affect the brain and the spinal cord of the developing embryo. The defects occur due to incomplete or failure of closure of the neural tube. The condition eventually causes death and lifelong disability. Worldwide, more than 300,000 babies are born with neural tube defects each year. The highest burden is in low- and middle-income countries. Therefore, this study aims to identify the risk factors associated with neural tube defects among mothers who gave birth in North Shoa Zone Hospitals. Methods A hospital based unmatched case-control study was conducted among 243 (81 cases and 162 controls) study participants in North Shoa Zone Hospitals. The hospitals were selected using simple random sampling and all cases and randomly selected controls in the selected hospitals were included in the study. The data were collected by using pre-tested structured questionnaire. Results Different factors were identified to have association with neural tube defect. Family annual cash income less than 24000ETB (AOR: 3.73, 95%CI: 1.35, 10.26), history of still birth (AOR: 3.63, 95%CI: 1.03, 12.2), history of abortion (AOR: 6.15, 95%CI: 2.63, 18.56), preconception tea use (AOR: 2.36, 95%CI: 1.15, 4.86) and pesticides/chemical exposure (AOR: 5.34, 95%CI: 1.77, 16.05) were positively associated factors. In contrast, preconception care (AOR: 0.14, 95%CI: 0.05, 0.39) and taking iron/folic acid/multivitamin during the current pregnancy (AOR: 0.16, 95%CI: 0.07, 0.33) showed a protective effect. Conclusion Family annual income less than 24000ETB, history of still birth, history of abortion, preconception tea uses and pesticides/chemical exposure were associated factors of neural tube defects. Preconception counseling and screening should be recommended for women who plan for pregnancy.

Neural Tube Defects: A Two-Pronged Approach to Primary Prevention

PEDIATRICS ◽  
1982 ◽  
Vol 70 (4) ◽  
pp. 648-650
Author(s):  
K. M. Laurence
Keyword(s):  
Folic Acid ◽  
Primary Prevention ◽  
Environmental Factors ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
Genetic Background ◽  
Genetic Factors ◽  
Maternal Nutrition ◽  
Folic Acid Deficiency ◽  
Acid Deficiency

It is generally agreed that neural tube defects (NTD) have a multifactorial etiology when genetic factors render the developing fetus susceptible to intrauterine environmental factors acting during the fourth week of gestation to interfere with the orderly closure of the neural tube.1 As there is little likelihood that anything can be done about the genetic background, primary prevention would therefore be dependent on eliminating these factors from the environment or avoiding them. My intention here is to enlarge on some aspects of primary prevention of NTD as outlined by Smithells in an earlier issue (Pediatrics 69:498, 1982).2 One environmental factor, poor maternal nutrition and, more particularly, folic acid deficiency seems now to have been identified, but there are almost certainly a number of others.

scholarly journals Analytical epidemiology of multiple sclerosis in the Republic of Kabardino-Balkaria

2021 ◽  
Vol 13 (1S) ◽  
pp. 10-14
Author(s):  
L. B. Tlapshokova ◽  
A. R. Zikhova
Keyword(s):  
Risk Factors ◽  
Multiple Sclerosis ◽  
Environmental Factors ◽  
Scarlet Fever ◽  
Disease Onset ◽  
Clinical Manifestations ◽  
Control Group ◽  
Place Of Residence ◽  
History Of ◽  
The Republic

Multiple sclerosis (MS) is a common autoimmune disease, which etiology includes a complex of genetic and environmental factors. Data suggests that their interaction can influence the age of the clinical manifestations and the course of the disease. Therefore, the study of risk factors of MS in regions with different ethnic compositions of the population and climatic and geographical characteristics is of considerable interest.Objective: to study MS risk factors prevalence in the Republic of Kabardino-Balkaria (RKB).Patients and methods. This case-control study of the representation of risk factors included a cohort of 112 MS patients living in two regions of the RKB (Nalchik and the Prokhladnensky district). The MS diagnosis was established with the McDonald criteria (2017). MS risk factors were assessed with a unified questionnaire. 112 respondents (matched by the main demographic characteristics and place of residence) were included in the control group.Results and discussion. MS patients from the Prokhladnensky district were significantly more likely to contact harmful chemical compounds, had higher consumption of smoked meat products; and suffered from viral infections more often (all differences were significant, p<0.05). More patients with MS, regardless of their place of residence, had a history of scarlet fever than the controls (n=23; 19.5% and n=14; 13.4%, ratio indicator 0.43 (95% CI 0.32–1.01), p=0.041), and the maximum significance of this factor was found in patients who suffered from scarlet fever after the age of 15 years (n=7; 6.3% and n=1; 0.9%, ratio indicator 2.45 (95% CI 1.92–3.21), p=0.041). More patients with MS had a history of chickenpox (n=70; 62.5% and n=55; 41.1%; ratio indicator 0.78 (95% CI 0.65–0.94, p=0.032), the frequency of this factor was most significant in early (up to 7 years) disease onset. Regardless of the place of residence, patients with MS were more likely to suffer from tonsillitis and sinusitis in childhood (p=0.032).Conclusion. In the RKB, as in other regions of the Russian Federation, the risk of MS, along with a genetic predisposition, is primarily determined by environmental factors, such as contact with potentially harmful chemicals, history of somatic diseases, characteristics of the ecological situation, etc. Therefore, MS risk is higher in people exposed to these factors before the age of 7 years and does not depend on the place of residence. 

scholarly journals Heritability of the risk factors characteristic for the metabolic syndrome: a twin study

2011 ◽  
Vol 152 (32) ◽  
pp. 1265-1271 ◽  
Author(s):  
György Jermendy ◽  
Levente Littvay ◽  
Rita Steinbach ◽  
Ádám Jermendy ◽  
Ádám Tárnoki ◽  
...  
Keyword(s):  
Risk Factors ◽  
Metabolic Syndrome ◽  
Waist Circumference ◽  
Environmental Factors ◽  
Fasting Blood Glucose ◽  
Hdl Cholesterol ◽  
Anthropometric Parameters ◽  
Serum Triglycerides ◽  
The Metabolic Syndrome ◽  
Genetic And Environmental Factors

Both genetic and environmental factors play role in the pathogenesis of the metabolic syndrome. The magnitude of genetic and environmental influences on the components of metabolic syndrome may vary in different populations. Aims: The present study was aimed to determine the effects of genetic and environmental factors on risk factors characteristic for the metabolic syndrome. Methods: A total of 101 (63 monozygotic and 38 dizygotic) adult twin pairs (n = 202; mean age: 43.3±15.8 years) were investigated. Medical history was recorded and physical examination was carried out for each subject. Fasting venous blood samples were used for measuring laboratory parameters. The presented estimates include the heritability structural equation (A-C-E) model results. In Model-1, all presented parameters are age- and gender- corrected. In Model-2, parameters were corrected for age, gender, body mass index and waist circumference. Results: Heritability in waist circumference (as well as in other anthropometric parameters such as weight and height) was high (Model-1: 71.0–88.1%). Similarly, genetic factors had the highest proportion of total phenotypic variance in systolic and diastolic blood pressure (Model-2: 57.1% and 57.7%, respectively). Based on the results of Model-2, unique environmental factors dominate alterations in serum triglycerides values (55.9%) while shared environmental factors proved to be substantial in alterations of HDL-cholesterol and fasting blood glucose values (58.1% and 57.1%, respectively). Comparing the results of Model-1 and Model-2, the difference in A-C-E model varied from 0.0% to 17.1%, indicating that only a minor proportion of genetic and environmental influences can be explained by the effects of anthropometric parameters. Conclusions: Among adult Hungarian healthy people, genetic factors have substantial influence on waist circumference and blood pressure values while environmental factors dominate alterations in serum triglycerides, HDL-cholesterol and fasting blood glucose values. The different heritability of individual risk factors challenges the original unifying concept of the metabolic syndrome. The results may be useful for establishing and implementing primary cardiovascular prevention both at individual and population levels. Orv. Hetil., 2011, 152, 1265–1271.

Neural Tube Defects: Prevention by Vitamin Supplements

PEDIATRICS ◽  
1982 ◽  
Vol 69 (4) ◽  
pp. 498-499
Author(s):  
R. W. Smithells
Keyword(s):  
Neural Tube ◽  
Neural Tube Defects ◽  
Birth Defect ◽  
Epidemiologic Study ◽  
Neural Tube Closure ◽  
Additive Effects ◽  
Vitamin Supplements ◽  
Tube Closure

Neural tube defects (NTD) have been the object of more intense epidemiologic study than any other kind of birth defect. This is in part because of their ready recognition at birth (and, in recent years, before birth) and in part because their consequences are usually catastrophic: they kill or they cripple. Regarding their cause, no single genetic or environmental agent has been identified (or is likely to be) and a multifactorial basis is assumed. If failure of neural tube closure results from the additive effects of several adverse factors, removal or correction of any one might shift the developmental balance across the threshold from NTD to normality.

Sign in / Sign up

Export Citation Format

Share Document