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Congenital heart“Challenges”in down syndrome

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World Journal of Cardiology 2024年第5期16卷 217-220页

作者： Maria Drakopoulou Panayotis K Vlachakis Costas Tsioufis Dimitris Tousoulis Department of First Cardiology Hippokration General HospitalAthens Medical SchoolNational and Kapodistrian University of AthensAthens 11527Greece

In this editorial,we comment on the article by Kong et al published in the recent issue of the World Journal of *** this interesting case,the authors present the challenges faced in managing a 13-year-old patient with down syndrome(DS)and congenital heart disease(CHD)associated with pulmonary arterial *** this distinct population,the Authors underscore the need for early diagnosis and management as well as the need of a multidisciplinary approach for decision *** seems that the occurrence of CHD in patients with DS adds layers of complexity to their clinical *** editorial aims to provide a comprehensive overview of the intricate interplay between DS and congenital heart disorders,offering insights into the nuanced diagnostic and therapeutic considerations for physicians.

关键词： down syndrome Congenital heart disease Atrioventricular septal defect Pulmonary hypertension Right heart catheterization

Development of pulmonary hypertension remains a major hurdle to corrective surgery in down syndrome

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World Journal of Cardiology 2024年第1期16卷 1-4页

作者： Akash Batta Juniali Hatwal Department of Cardiology Dayanand Medical College and HospitalLudhiana 141001PunjabIndia Department of Internal Medicine Post Graduate Institute of Medical Education&ResearchChandigarh 160012India

down syndrome is the most common chromosomal abnormality encountered in clinical practice with 50%of them having associated congenital heart disease(CHD).Shunt lesions account for around 75%of all CHDs in down *** syndrome patients,especially with large shunts are particularly predisposed to early development of severe pulmonary hypertension(PH)compared with shunt lesions in general *** necessitates timely surgical correction which remains the only viable option to prevent long term morbidity and ***,despite clear recommendations,there is wide gap between actual practice and fear of underlying PH which often leads to surgical refusals in down syndrome even when the shunt is *** peculiarity is that down syndrome patients can develop PH even after successful correction of *** is not uncommon to come across down syndrome patients with uncorrected shunts in adulthood with irreversible PH at which stage intracardiac repair is contraindicated and the only option available is a combined heartlung ***,despite the guidelines laid by authorities,the rates of cardiac transplant in adult down syndrome remain dismal largely attributable to the high prevalence of intellectual disability in *** index case presents a real-world scenario highlighting the impact of severe PH on treatment strategies and discrimination driven by the fear of worse outcomes in these patients.

关键词： down syndrome Congenital heart disease Pulmonary hypertension Cardiac transplantation Pulmonary vascular resistance Surgical correction

Tomography-based definition of keratoconus for down syndrome patients

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Eye and Vision 2020年第5期7卷 477-484页

作者： Soheila Asgari Shiva Mehravaran Mohammadreza Aghamirsalim Hassan Hashemi Noor Ophthalmology Research Center Noor Eye HospitalNo.96 Esfandiar Blvd.Vali’asr Ave.TehranIran ASCEND Center for Biomedical Research Morgan State UniversityBaltimoreMDUSA Translational Ophthalmology Research Center Tehran University of Medical ScienceTehranIran

Background:To assess the diagnostic ability of Pentacam HR(Oculus Optikgeräte,GmbH,Wetzlar,Germany)tomographic indices in discriminating keratoconus(KC)and KC suspect(KCS)in 10-to 30-year-old patients with down syndrome(DS).Methods:In this study,DS patients were enrolled through special needs schools,the National down syndrome Society,and relevant non-profit *** were made independently by two experienced *** Pentacam indices related to corneal thickness,volume,density,keratometry,power,shape,aberration,and elevation were *** each index,the accuracy for KC and KCS diagnosis was evaluated using discriminant analysis and the area under receiver operating characteristic curve(AUROC).From each enrolled case,data from only one eye was entered in the ***:Analyses were performed on data from 25 KC,46 KCS,and 154 non-ectatic DS *** best discriminants for KC were anterior higher order aberrations(HOA)(cutoff>0.643,AUROC=0.879),posterior vertical coma(cutoff>0.0702μm,AUROC=0.875),anterior vertical coma(cutoff>0.4124μm,AUROC=0.868),and total HOA(cutoff>0.608,AUROC=0.867).The difference between AUROCs were not statistically significant(all P>0.05).For KCS,the best discriminants were minimum corneal thickness(cutoff≤480.0μm,AUROC=0.775),corneal volume(cutoff≤55.3μm,AUROC=0.727)and Belin Ambrosio display-total deviation(BAD-D)(cutoff>2.23,AUROC=0.718)with no significant difference between AUROCs(all P>0.05).Conclusions:In this sample of DS patients,best KC discriminators were HOA and coma which showed good diagnostic *** KCS,best predictors were minimum corneal thickness,corneal volume,and BAD-D with relatively good diagnostic *** a new set of KC diagnostic criteria for DS patients is suggested.

关键词： down syndrome Keratoconus Diagnostic criteria Tomography Discriminant analysis

Polymorphisms in genes involved in folate metabolism as maternal risk factors for down syndrome in China

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Journal of Zhejiang University-Science B(Biomedicine & Biotechnology) 2008年第2期9卷 93-99页

作者： Shao-shuai WANG Fu-yuan QIAO Ling FENG Juan-juan LV Department of Obstetrics and Gynecology Tongji Hospital Tongji Medical College Huazhong University of Science and Technology Wuhan 430030 China

Objective: To explore the relationship between genetic polymorphisms in methylenetetrahydrofolate reductase (MTHFR), methionine synthase reductase (MTRR), the central enzymes in folate metabolism that affects DNA methylation and synthesis, and the risk of down syndrome in China. Methods: Genomic DNA was isolated from the peripheral lymphocytes of 64 mothers of children with down syndrome and 70 age matched control subjects. Polymerase chain reaction and restriction fragment length polymorphism were used to examine the polymorphisms of MTHFR 677C→T, MTRR 66A→G and the relationship between these genotypes and the risk of down syndrome was analyzed. Results: The results show that the MTHFR 677C→T polymorphism is more prevalent among mothers of children with down syndrome than among control mothers, with an odds ratio of 3.78 (95% confidence interval (CI), 1.78～8.47). In addition, the homozygous MTRR 66A→G polymorphism was independently associated with a 5.2-fold increase in estimated risk (95% CI, 1.90～14.22). The combined presence of both polymorphisms was associated with a greater risk of down syndrome than the presence of either alone, with an odds ratio of 6.0 (95% CI, 2.058～17.496). The two polymorphisms appear to act without a multiplicative interaction. Conclusion: MTHFR and MTRR gene mutation alleles are related to down syndrome, and CT, TT and GG gene mutation types increase the risk of down syndrome.

关键词： Tetrahydrofllate dehydrogenase Ligases down syndrome Folate

Intranasal rapamycin ameliorates Alzheimerlike cognitive decline in a mouse model of down syndrome

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Translational Neurodegeneration 2018年第1期7卷 285-306页

作者： Antonella Tramutola Chiara Lanzillotta Eugenio Barone Andrea Arena Ilaria Zuliani Luciana Mosca Carla Blarzino D.Allan Butterfield Marzia Perluigi Fabio Di Domenico Department of Biochemical Sciences Sapienza University of RomeP.le Aldo Moro 500185 RomeItaly Universidad Autònoma de Chile Instituto de Ciencias BiomédicasFacultad de aludAvenida Pedro de Valdivia 425ProvidenciaSantiagoChile Department of Chemistry and Sanders-Brown Center on Aging University of KentuckyLexingtonKY 40506-0055USA

Background:down syndrome(DS)individuals,by the age of 40s,are at increased risk to develop Alzheimer-like dementia,with deposition in brain of senile plaques and neurofibrillary *** laboratory recently demonstrated the disturbance of PI3K/AKT/mTOR axis in DS brain,prior and after the development of Alzheimer Disease(AD).The aberrant modulation of the mTOR signalling in DS and AD age-related cognitive decline affects crucial neuronal pathways,including insulin signaling and autophagy,involved in pathology onset and *** this context,the therapeutic use of mTOR-inhibitors may prevent/attenuate the neurodegenerative *** our work we aimed to rescue mTOR signalling in DS mice by a novel rapamycin intranasal administration protocol(InRapa)that maximizes brain delivery and reduce systemic side ***:Ts65Dn mice were administered with InRapa for 12 weeks,starting at 6 months of age demonstrating,at the end of the treatment by radial arms maze and novel object recognition testing,rescued ***:The analysis of mTOR signalling,after InRapa,demonstrated in Ts65Dn mice hippocampus the inhibition of mTOR(reduced to physiological levels),which led,through the rescue of autophagy and insulin signalling,to reduced APP levels,APP processing and APP metabolites production,as well as,to reduced tau *** addition,a reduction of oxidative stress markers was also ***:These findings demonstrate that chronic InRapa administration is able to exert a neuroprotective effect on Ts65Dn hippocampus by reducing AD pathological hallmarks and by restoring protein homeostasis,thus ultimately resulting in improved *** are discussed in term of a potential novel targeted therapeutic approach to reduce cognitive decline and AD-like neuropathology in DS individuals.

关键词： mTOR Autophagy Rapamycin down syndrome Alzheimer disease APP Tau Oxidative stress

Assessment of cardiac function in absence of congenital and acquired heart disease in patients with down syndrome

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世界儿科杂志:英文版 2016年第4期12卷 463-469页

作者： Sevket Balli Ilker Kemal Yucel Ayse Esin Kibar Ibrahim Ece Eylem Sen Dalkiran Sukru Candan Department of Pediatric Cardiology Balikesir Ataturk HospitalBalikesirTurkey Department of Pediatric Cardilogy Siyami Ersek Education and Research HospitalIstanbulTurkey Department of Pediatric Cardiology Children's HospitalMersinTurkey Department of Pediatric Cardiology Yuzuncu Yil University of MedicineVanTurkey Department of Pediatrics Balikesir Ataturk HospitalBalikesirTurkey Department of Medical Genetics Balikesir Ataturk HospitalBalikesirTurkey

Background:Extra genetic material in patients with down syndrome(DS)may affect the function of any organ *** evaluated cardiac functions using conventional tissue Doppler and two-dimensional speckle tracking echocardiography in patients with DS in the absence of congenital and acquired heart disease in ***:A total of 115 patients with DS between 6 and 13 years of age with clinically and anatomically normal heart and 55 healthy children were included in this cross-sectional *** was diagnosed by a karyotype *** with mosaic type were not included in this *** and diastolic functions were evaluated by ***:Pulsed waved Doppler transmitral early/late inflow velocity(E/A),tissue Doppler mitral annular early/late diastolic peak velocity(Ea/Aa),transtricuspid E/A and tricuspid valve annulus Ea/Aa,pulmonary venous Doppler systolic/diastolic(S/D)wave ratio were lower in patients with down syndrome than in the control group(P=0.04,P=0.001,Pdown syndrome group compared with the controls had a lower strain values examined by two-dimensional longitudinal speckle-tracking strain ***:These findings suggest conventional tissue Doppler and two-dimensional longitudinal speckletracking strain echocardiography were useful methods of investigating ventricular function and identifying a higher incidence of biventricular dysfunction in patients with down syndrome compared with the healthy controls.

关键词： diastolic function down syndrome strain imaging analysis systolic function tissue Doppler

Molecular mechanisms of congenital heart disease in down syndrome

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Genes & Diseases 2019年第4期6卷 372-377页

作者： Hui Zhang Lingjuan Liu Jie Tian Department of Cardiology Heart CentreChildren’s Hospital of Chongqing Medical UniversityChongqing 400014China Ministry of Education Key Laboratory of Child Development and Disorders Key Laboratory of Pediatrics in ChongqingChongqing International Science and Technology Cooperation Center for Child Development and DisordersChongqing 400014China

down syndrome(DS),as a typical genomic aneuploidy,is a common cause of various birth defects,among which is congenital heart disease(CHD).40e60%neonates with DS have some kinds of ***,the molecular pathogenic mechanisms of DS associated CHD are still not fully *** review summarizes available studies on DS associated CHD from seven aspects so as to provide a crucial and updated overview of what we known so far in this domain.

关键词： down syndrome Congenital heart disease Molecular mechanisms

Realizing the potential of exploiting human IPSCs and their derivatives in research of down syndrome

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BIOCELL 2023年第12期47卷 2567-2578页

作者： YAFEI WANG JIELEI NI YUHAN LIU DINGYING LIAO QIANWEN ZHOU XIAOYANG JI GANG NIU YANXIANG NI Nanophotonics Research Center Institute of Microscale Optoelectronics&State Key Laboratory of Radio Frequency Heterogeneous IntegrationShenzhen UniversityShenzhen518060China Phil Rivers Technology Beijing100871China Department of Ophthalmology Peking University Shenzhen HospitalShenzhen518036China

down syndrome(DS)is a genetic condition characterized by intellectual disability,delayed brain development,and early onset Alzheimer’s *** use of primary neural cells and tissues is important for understanding this disease,but there are ethical and practical issues,including availability from patients and experimental ***,there are significant genetic and physiological differences between animal models and humans,which limits the translation of the findings in animal studies to *** in induced pluripotent stem cells(iPSC)technology have revolutionized DS research by providing a valuable tool for studying the cellular and molecular pathologies associated with *** pluripotent stem cells derived from cells obtained from DS patients contain the patient’s entire genome including trisomy *** iPSCs as well as their derived cells or organoids can be useful for disease modeling,investigating the molecular mechanisms,and developing potential strategies for treating or alleviating *** this review,we focus on the use of iPSCs and their derivatives obtained from DS individuals and healthy humans for DS *** summarize the findings from the past decade of DS studies using iPSCs and their *** also discuss studies using iPSC technology to investigate DS-associated genes(e.g.,APP,OLIG1,OLIG2,RUNX1,and DYRK1A)and abnormal phenotypes(e.g.,dysregulated mitochondria and leukemia risk).Lastly,we review the different strategies for mitigating the limitations of iPSCs and their derivatives,for alleviating the phenotypes,and for developing therapies.

关键词： down syndrome Induced pluripotent stem cell Trisomy 21 Neurodevelopment Genetic alterations Alzheimer’s disease

Application of intelligent algorithms in down syndrome screening during second trimester pregnancy

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World Journal of Clinical Cases 2021年第18期9卷 4573-4584页

作者： Hong-Guo Zhang Yu-Ting Jiang Si-Da Dai Ling Li Xiao-Nan Hu Rui-Zhi Liu Center for Reproductive Medicine and Center for Prenatal Diagnosis First HospitalJilin UniversityChangchun 130021Jilin ProvinceChina College of Communication Engineering Jilin UniversityChangchun 130012Jilin ProvinceChina

BACKGROUND down syndrome(DS)is one of the most common chromosomal aneuploidy *** screening and diagnostic tests can aid the early diagnosis,appropriate management of these fetuses,and give parents an informed choice about whether or not to terminate a *** recent years,investigations have been conducted to achieve a high detection rate(DR)and reduce the false positive rate(FPR).Hospitals have accumulated large numbers of screened ***,artificial intelligence methods are rarely used in the risk assessment of prenatal screening for *** To use a support vector machine algorithm,classification and regression tree algorithm,and AdaBoost algorithm in machine learning for modeling and analysis of prenatal DS *** The dataset was from the Center for Prenatal Diagnosis at the First Hospital of Jilin *** designed and developed intelligent algorithms based on the synthetic minority over-sampling technique(SMOTE)-Tomek and adaptive synthetic sampling over-sampling techniques to preprocess the dataset of prenatal screening *** machine learning model was then ***,the feasibility of artificial intelligence algorithms in DS screening evaluation is *** The database contained 31 DS diagnosed cases,accounting for 0.03%of all *** dataset showed a large difference between the numbers of DS affected and non-affected cases.A combination of over-sampling and undersampling techniques can greatly increase the performance of the algorithm at processing non-balanced *** the number of iterations increases,the combination of the classification and regression tree algorithm and the SMOTETomek over-sampling technique can obtain a high DR while keeping the FPR to a *** The support vector machine algorithm and the classification and regression tree algorithm achieved good results on the DS screening *** the T21 risk cutoff value was set to 270,machine learning m

关键词： down syndrome Prenatal screening Algorithms Classification and regression tree Support vector machine Risk cutoff value