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      Chromosomal abnormalities and atrial fibrillation and ischemic stroke incidence: a nationwide population-based study

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          Abstract

          There is a paucity of information as to whether chromosomal abnormalities, including Down Syndrome, Turner Syndrome, and Klinefelter Syndrome, have an association with atrial fibrillation (AF) and ischemic stroke development. Data from 3660 patients with Down Syndrome, 2408 with Turner Syndrome, and 851 with Klinefelter Syndrome without a history of AF and ischemic stroke were collected from the Korean National Health Insurance Service (2007–2014). These patients were followed-up for new-onset AF and ischemic stroke. Age- and sex-matched control subjects (at a ratio of 1:10) were selected and compared with the patients with chromosomal abnormalities. Down Syndrome patients showed a higher incidence of AF and ischemic stroke than controls. Turner Syndrome and Klinefelter Syndrome patients showed a higher incidence of AF than did the control group, but not of stroke. Multivariate Cox regression analysis revealed that three chromosomal abnormalities were independent risk factors for AF, and Down Syndrome was independently associated with the risk of stroke. In conclusion, Down Syndrome, Turner Syndrome, and Klinefelter Syndrome showed an increased risk of AF. Down Syndrome patients only showed an increased risk of stroke. Therefore, AF surveillance and active stroke prevention would be beneficial in patients with these chromosomal abnormalities.

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          Prenatal and postnatal prevalence of Klinefelter syndrome: a national registry study.

          The objective of this study was to describe the prevalence of Klinefelter syndrome (KS) prenatally and postnatally in Denmark and determine the influence of maternal age. All chromosomal examinations in Denmark are registered in the Danish Cytogenetic Central Registry. Individuals with KS diagnosed prenatally or postnatally were extracted from the registry with information about age at the time of diagnosis and mother's age. In the period 1970-2000, 76,526 prenatal examinations on male fetuses resulted in the diagnosis of 163 fetuses with KS karyotype, corresponding to a prevalence of 213 per 100,000 male fetuses. Standardization according to maternal age resulted in a prevalence of 153 per 100,000 males. Postnatally, 696 males of 2,480,858 live born were diagnosed with KS, corresponding to a prevalence among adult men of approximately 40 per 100,000. Less than 10% of the expected number was diagnosed before puberty. Advanced maternal age had a significant impact on the prevalence. KS is severely underdiagnosed in Denmark. Only approximately one fourth of adult males with KS are diagnosed. There is a marked delay in diagnosis of the syndrome. A delay in treatment with testosterone may lead to decreased muscle and bone mass with subsequent risk of osteoporosis.
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            Klinefelter's syndrome.

            Klinefelter's syndrome is the most common genetic cause of human male infertility, but many cases remain undiagnosed because of substantial variation in clinical presentation and insufficient professional awareness of the syndrome itself. Early recognition and hormonal treatment of the disorder can substantially improve quality of life and prevent serious consequences. Testosterone replacement corrects symptoms of androgen deficiency but has no positive effect on infertility. However, nowadays patients with Klinefelter's syndrome, including the non-mosaic type, need no longer be considered irrevocably infertile, because intracytoplasmic sperm injection offers an opportunity for procreation even when there are no spermatozoa in the ejaculate. In a substantial number of azoospermic patients, spermatozoa can be extracted from testicular biopsy samples, and pregnancies and livebirths have been achieved. The frequency of sex chromosomal hyperploidy and autosomal aneuploidies is higher in spermatozoa from patients with Klinefelter's syndrome than in those from normal men. Thus, chromosomal errors might in some cases be transmitted to the offspring of men with this syndrome. The genetic implications of the fertilisation procedures, including pretransfer or prenatal genetic assessment, must be explained to patients and their partners.
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              Cardiovascular Research Using the Korean National Health Information Database

              The Korean National Health Information Database (NHID) contains nationwide claims data, including sociodemographic data, health care utilization, health screening data, and healthcare provider information. To compensate for the limitations of randomized clinical trials, real-world observational studies using claims data have emerged as a novel research tool. We summarized the structure of the Korean NHID and the recent researches conducted in the field of cardiovascular science. Epidemiological studies, prescription patterns, temporal trends, comparison of effectiveness and safety of treatments, variability index using laboratory data, and rare intractable disease constitute interesting topics of research in cardiovascular science using the NHID. The operational definition of covariates and clinical outcomes is important for researchers interested in using the NHID data as new tools to prove their hypothesis. A step-by-step approach adopted by a team of data scientists, epidemiologists, statisticians, and clinical researchers may be most effective while designing research studies. The ultimate direction of research using the NHID should aim to improve the welfare of the public by promoting public health, reducing medical costs, and guiding healthcare policies.
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                Author and article information

                Contributors
                choiek17@snu.ac.kr
                Journal
                Sci Rep
                Sci Rep
                Scientific Reports
                Nature Publishing Group UK (London )
                2045-2322
                28 September 2020
                28 September 2020
                2020
                : 10
                : 15872
                Affiliations
                [1 ]GRID grid.412484.f, ISNI 0000 0001 0302 820X, Department of Internal Medicine, , Seoul National University Hospital, ; 101 Daehak-ro, Jongno-gu, Seoul, 03080 Republic of Korea
                [2 ]GRID grid.411651.6, ISNI 0000 0004 0647 4960, Heart Research Institute, Cardiovascular-Arrhythmia Center, College of Medicine, , Chung-Ang University Hospital, ; Seoul, Republic of Korea
                [3 ]GRID grid.411947.e, ISNI 0000 0004 0470 4224, Department of Biostatistics, College of Medicine, , The Catholic University of Korea, ; Seoul, Republic of Korea
                [4 ]GRID grid.412479.d, Department of Internal Medicine, , Seoul National University Boramae Medical Center, ; Seoul, Republic of Korea
                Author information
                http://orcid.org/0000-0002-8920-8777
                http://orcid.org/0000-0002-2504-9615
                Article
                72678
                10.1038/s41598-020-72678-0
                7522243
                32985552
                88310c3d-332c-4005-a6c6-57d4042cdf9e
                © The Author(s) 2020

                Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.

                History
                : 4 July 2019
                : 23 August 2020
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                © The Author(s) 2020

                Uncategorized
                atrial fibrillation,risk factors
                Uncategorized
                atrial fibrillation, risk factors

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