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down’s syndrome with systemic Lupus Erythematosis:Never turn a blind eye

Discussion of Clinical Cases 2019年第4期6卷 17-19页

作者： saera suhail Kidwai Hoori shehwar Department of Internal Medicine Fazaiya Ruth Pfau Medical CollegeKarachiPakistan Neurospinal and Medical Institute KarachiPakistan

down’s syndrome(Ds,Trisomy 21)with a prevalence of 1:8,000 live births is considered the most common genetic chromosomal disorder,with an extra full or partial copy of chromosome *** addition to physical and mental developmental delays and disabilities being a challenge to this disorder,vulnerability of Ds patients to a variety of autoimmune diseases like diabetes,thyroid disorders and celiac disease is also well established suggesting impaired immune response especially cell mediated *** the last 3 decades,a few cases of systemic Lupus Erythematosis(sLE)have been identified and reported internationally,this case report adds to this rare association and also endorses the need to carefully evaluate and investigate the Ds individuals for the presence of connective tissue disorders especially if there is already an existing autoimmune disorder like diabetes,celiac or thyroid disorder.

关键词： down’s syndrome systemic Lupus Erythematosis Diabetes mellitus

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Cytogenetic Investigation in Patients with Clinical suspicion of Genetic syndrome in Manaus, Brazil

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Journal of Pharmacy and Pharmacology 2022年第3期10卷 72-78页

作者： Débora Pinto Denise Corrêa Benzaquem Rachel Cardoso Nunes Vânia Mesquita Gadelha Prazeres Cleiton Fantin Hospital Universitário Getúlio Vargas ManausAmazonas 69020-170Brasil Human Genetics Laboratory State University of AmazonasManausAmazonas 69065-001Brazil Federal University of Amazonas.Manaus Amazonas 69067-005Brazil

Chromosomal alterations can cause a number of diseases;therefore,early detection of these alterations is fundamental in the prevention and treatment of various *** this sense,the objective of this study was to perform cytogenetic analysis of patients with phenotypic characteristics not yet clarified in order to determine the frequency of chromosomal alterations in patients treated in the public health system in Manaus,Brazil.A total of 98 patients with clinical suspicion of genetic syndrome were referred to the public health system in Manaus,Amazonas *** analyses were performed from lymphocyte culture and subsequent *** data were obtained through referral files and chromosomal a *** the 98 karyotypes analyzed,65(66.3%)presented normal karyotype,18(18.4%)presented chromosomal alterations and 15(15.3%)were *** the alterations found,11(61.1%)corresponded to alterations of the numerical type and 7(38.9%)of the structural *** the chromosomal alterations identified,the one with the highest frequency was aneuploidy,which was significantly represented by 9 patients with down’s syndrome,and different karyotypic mechanisms related to this syndrome were *** was also one case of deletion,one case of pericentric inversion,and two involving the sex *** etiological confirmation of congenital anomalies is extremely important for the patient’s prognosis,and it is necessary to invest in cytomolecular tests,such as FIsH and microarray in order to increase the rate of diagnosis.

关键词： Karyotype chromosomes banding karyotypic formula down’s syndrome

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Health Economic Evaluation of Prenatal screening strategies for down syndrome Detection

Health Economic Evaluation of Prenatal Screening Strategies ...

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2019年浙江省检验医学学术大会

作者： Yibo chen Zhenyu Wang Jie Qi Wenbo Lu Ningbo Women and Children Hospital

Background:An important issue for perinatal medical workers is how to choose the best prenatal screening strategy for the region. Cost-benefit analysis(CBA) is one of the important basis for measuring the feasibility of screening implementation and judging the pros and cons of screening ***:A retrospective analysis of 72,901 pregnant women with the prenatal screening of down syndrome in Ningbo from May 2017 to May 2018, including 20,526 second trimester pregnancy screening strategies and 34,025 first and second—trimester integrated screening strategies, There were 18,350 cases of non-invasive prenatal screening strategies. Through the "decision tree" model, the efficacy and safety of three different screening strategies were simulated;the health economics characteristics of each screening strategy were compared through cost-effectiveness analysis and cost-benefit *** :(1)Efficacy of 3 screening strategies: non-invasive prenatal screening> first and second—trimester integrated screening strategies > second trimester pregnancy screening strategies;(2) safety: non-invasive prenatal screening> first and second—trimester integrated screening strategies > second trimester pregnancy screening strategies;(3) Cost-effectiveness analysis and cost-benefit analysis: the ICER of the three screening programs are s economic burden(1,100,000 yuan), the non-invasive prenatal screening has the highest CER, and the costeffective net present value is negative. If the screening price is reduced to sent value of cost-effectiveness is positive and CBR will be >1, and the project implementation is a positive benefit, which has economic *** :Non-invasive prenatal screening has the highest screening efficiency, and prenatal screening is the most economical in mid-pregnancy;non-invasive prenatal screening is the future development direction of Ds.

关键词： down’s syndrome prenatal screening non-invasive prenatal screening cost effect analysis

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