Genetic Factors in Seizures: A Population-Based Study of 47,626 US, Norwegian and Danish Twin Pairs

2005 ◽  
Vol 8 (2) ◽  
pp. 138-147 ◽  
Author(s):  
Marianne J. Kjeldsen ◽  
Linda A. Corey ◽  
Marit H. Solaas ◽  
Mogens L. Friis ◽  
Jennifer R. Harris ◽  
...  

AbstractThe purpose of the study was to describe a large sample of twins reporting a history of seizures, to characterize seizures in the three subpopulations, and to estimate the relative importance of genetic and environmental factors in seizure occurrence. Seizure history was determined by questionnaires completed by twins in population-based twin registries in the United States, Norway and Denmark. Concordance rates were calculated for all seizure categories within and across twin populations. Of 47,626 twin pairs evaluated, 6234 reported a history of seizures in one or both twins. Concordance rates were significantly higher for monozygotic (MZ) versus dizygotic (DZ) pairs for all seizure categories within and across populations. The results of this study involving the largest unselected, population-based sample of twins with seizures assembled to date confirm the importance of genetic factors in determining risk for epilepsy, febrile seizures, other seizures and staring spells. This sample is likely to provide an important resource for studying the genetics of epilepsy subtypes and febrile seizures.

2001 ◽  
Vol 44 (2-3) ◽  
pp. 167-178 ◽  
Author(s):  
Marianne Juel Kjeldsen ◽  
Kirsten Ohm Kyvik ◽  
Kaare Christensen ◽  
Mogens Laue Friis

2021 ◽  
Vol 13 ◽  
pp. 175628722110297
Author(s):  
Shu Cui ◽  
Xinghua Zhao ◽  
Xiaohan Chu ◽  
Shengwei Zhang ◽  
Qingyang Gu ◽  
...  

Background: The artificial fluorinated group of compounds polyfluoroalkyl chemicals (PFCs) has been applied extensively in daily life for decades, and is present in food, drinking water, and indoor dust. The nephrotoxicity of PFCs has been widely studied for its characteristics of being mainly excreted through passing urine and affecting urodynamics. This work aimed to investigate the relationship between PFCs and the occurrence of urge urinary incontinence (UUI) in the United States (US) population. Methods: There were 3157 eligible female participants retrieved from the National Health and Nutrition Examination Survey (NHANES) between 2007 and 2014. A logistic regression model was used to examine the relationship between UUI and eight kinds of PFCs. The dose–response relationship was investigated through restricted cubic spline analysis in this retrospective study. Results: Of the 3157 eligible female participants, 913 self-reported a history of UUI. Total PFCs, perfluorohexane sulfonic acid (PFHS), 2-(N-methyl-perfluorooctane sulfonamido) acetate (MPAH), and perfluorononanoic acid (PFNA) correlated positively with the occurrence of UUI after adjusting for age, race, education, vigorous recreational activities, hypertension, diabetes, body mass index (BMI), creatinine, and estimated glomerular filtration rate (eGFR). Based on the results of sub-group analysis, the increasing tertiles contained odds ratios [OR; 95% confidence intervals (CI)] of 1.25 (95% CI, 1.03–1.51, p = 0.026) and 1.56 (95% CI, 1.29–1.89, p < 0.001) for total PFCs compared with the lowest tertile. The OR for PFHS, MPAH, and PFNA were 1.75, 1.71, and 1.41 respectively, in the highest tertile. Conclusion: This study investigated the relationship between PFCs and UUI in female and found total PFCs, PFHS, MPAH, and PFNA were positively correlated with the risk of UUI. The results will contribute to developing individualized treatment for female patients suffering UUI.


2007 ◽  
Vol 76 (6) ◽  
pp. 369-375 ◽  
Author(s):  
Michael Martini Jørgensen ◽  
Robert Zachariae ◽  
Axel Skytthe ◽  
Kirsten Kyvik

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Christina Bergqvist ◽  
François Hemery ◽  
Arnaud Jannic ◽  
Salah Ferkal ◽  
Pierre Wolkenstein

AbstractNeurofibromatosis 1 (NF1) is an inherited, autosomal-dominant, tumor predisposition syndrome with a birth incidence as high as 1:2000. A patient with NF1 is four to five times more likely to develop a malignancy as compared to the general population. The number of epidemiologic studies on lymphoproliferative malignancies in patients with NF1 is limited. The aim of this study was to determine the incidence rate of lymphoproliferative malignancies (lymphoma and leukemia) in NF1 patients followed in our referral center for neurofibromatoses. We used the Informatics for Integrated Biology and the Bedside (i2b2) platform to extract information from the hospital’s electronic health records. We performed a keyword search on clinical notes generated between Jan/01/2014 and May/11/2020 for patients aged 18 years or older. A total of 1507 patients with confirmed NF1 patients aged 18 years and above were identified (mean age 39.2 years; 57% women). The total number of person-years in follow-up was 57,736 (men, 24,327 years; women, 33,409 years). Mean length of follow-up was 38.3 years (median, 36 years). A total of 13 patients had a medical history of either lymphoma or leukemia, yielding an overall incidence rate of 22.5 per 100,000 (0.000225, 95% confidence interval (CI) 0.000223–0.000227). This incidence is similar to that of the general population in France (standardized incidence ratio 1.07, 95% CI 0.60–1.79). Four patients had a medical history leukemia and 9 patients had a medical history of lymphoma of which 7 had non-Hodgkin lymphoma, and 2 had Hodgkin lymphoma. Our results show that adults with NF1 do not have an increased tendency to develop lymphoproliferative malignancies, in contrast to the general increased risk of malignancy. While our results are consistent with the recent population-based study in Finland, they are in contrast with the larger population-based study in England whereby NF1 individuals were found to be 3 times more likely to develop both non-Hodgkin lymphoma and lymphocytic leukemia. Large-scale epidemiological studies based on nationwide data sets are thus needed to confirm our findings.


2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Batul Birjandi ◽  
Fahimeh Ramezani Tehrani ◽  
Atieh Amouzegar ◽  
Maryam Tohidi ◽  
Razieh Bidhendi Yarandi ◽  
...  

Abstract Background Thyroid autoimmunity(TAI) is the most prevalent autoimmune condition in women of fertile age. There are increasing data regarding the association of thyroid dysfunction and thyroid autoimmunity with adverse pregnancy outcomes but there is no consensus regarding infertility and TPOAb positivity; thus we aimed to evaluate the association between thyroid TPOAb positivity and infertility in females and males in a population-based study (TTS). Methods Cross-sectional study of 3197 female and male participants in Tehran Thyroid Study (TTS) at the framework of the Tehran Lipid and Glucose Study (TLGS). Data included biochemical measurements and a self-administered questionnaire. Results A total of 12,823 cases in phase 4, 3719 cases (2108 female and 1611 male) were analyzed. The mean TSH of the infertile female and male was 2.52 ± 2.68 μIU/ml and 3.24 ± 10.26 μIU/ml respectively. The TPO median(IQR) of women with and without a history of infertility were 6.05 (3.30–13.96)and 6.04 (3.17–11.15);(P = 0.613), they were 5.08 (3.20–125.68) and 5.31 (3.93–125.68);(P = 0.490) in male participants, respectively. Results of crude and adjusted logistic regression analysis of the development of infertility by thyroid function and TPOAb, except for fT4 in male subjects, depicted no association between infertility and other variables in both crude and adjusted models. Conclusion Based on the result, thyroid autoimmunity was not associated with infertility in both females and males.


1998 ◽  
Vol 173 (4) ◽  
pp. 345-350 ◽  
Author(s):  
Kenneth S. Kendler ◽  
Carol A. Prescott

BackgroundAlthough cocaine use in women has increased substantially over the past half-century, we understand little about the aetiology in women of cocaine use and abuse, and know almost nothing about the role of genetic factors.MethodWe obtained by telephone interview a history of lifetime cocaine use, abuse and dependence from 1934 individual twins from female–female pairs ascertained through a population-based registry, including both members of 485 monozygotic (MZ) and 335 dizygotic (DZ) pairs.ResultsThe prevalence of lifetime cocaine use, abuse and dependence were 14.0%, 3.3% and 2.3%. Probandwise concordance rates, in MZ and DZ twins, respectively, were: cocaine use 54% and 42%; cocaine abuse 47% and 8% and cocaine dependence 35% and 0%. In MZ and DZ twins, odds ratios were: cocaine use 14.2 and 6.7 and cocaine abuse 40.8 and 2.7. Biometrical model-fitting suggested that twin resemblance for liability to cocaine use was due to both genetic and familial–environmental factors while twin resemblance for cocaine abuse and symptoms of dependence was due solely to genetic factors. Estimated heritabilities were: cocaine use 0.39, cocaine abuse 0.79 and symptoms of dependence 0.65.ConclusionsThe vulnerability to cocaine use and particularly cocaine abuse and dependence in women is substantially influenced by genetic factors.


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