American Journal of Medical Genetics Part C: Seminars in Medical Genetics最新文献_第7页

Cover Image, Volume 196, Number 1, March 2024 封面图片，第 196 卷，第 1 号，2024 年 3 月

IF 3.1 3区医学

American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2024-03-11 DOI: 10.1002/ajmg.c.32084

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Table of Contents, Volume 196, Number 1, March 2024 目录，第 196 卷，第 1 号，2024 年 3 月

IF 3.1 3区医学

American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2024-03-11 DOI: 10.1002/ajmg.c.32047

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An extra X chromosome among adult women in the Million Veteran Program: A more benign perspective of trisomy X. 百万退伍军人计划中成年女性的额外 X 染色体：从更良性的角度看待 X 三体综合征。

IF 2.8 3区医学

American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2024-03-05 DOI: 10.1002/ajmg.c.32083

Shanlee M Davis, Craig C Teerlink, Julie A Lynch, Natalia Klamut, Bryan R Gorman, Meghana S Pagadala, Matthew S Panizzon, Victoria C Merritt, Giulio Genovese, Judith L Ross, Richard L Hauger

{"title":"An extra X chromosome among adult women in the Million Veteran Program: A more benign perspective of trisomy X.","authors":"Shanlee M Davis, Craig C Teerlink, Julie A Lynch, Natalia Klamut, Bryan R Gorman, Meghana S Pagadala, Matthew S Panizzon, Victoria C Merritt, Giulio Genovese, Judith L Ross, Richard L Hauger","doi":"10.1002/ajmg.c.32083","DOIUrl":"10.1002/ajmg.c.32083","url":null,"abstract":"Despite affecting in 1 in every 1000 females, remarkably little is known about trisomy X syndrome (47,XXX), especially among older adults who are undiagnosed. In this study, we aimed to determine the prevalence of 47,XXX among females enrolled in the Million Veterans Program (MVP; mean age 50.2 ± 13.6 years), and compare broad health outcomes between females with 47,XXX and 46,XX matched controls. We identified 61 females with an additional X chromosome, corresponding to a prevalence of 103 per 100,000 females; 27.9% had been clinically diagnosed. Females with 47,XXX had taller stature (+6.1 cm, p < 0.001), greater rate of outpatient encounters (p = 0.026), higher odds of kidney disease (odds ratio [OR] = 12.3; 95% confidence interval [CI] 2.9-51.8), glaucoma (OR = 5.1; 95% CI 1.5-13.9), and congestive heart failure (OR = 5.6; 95% CI 1.4-24.2), and were more likely to be unemployed (p = 0.008) with lower annual income (p = 0.021) when compared with 46,XX controls of the same age and genetic ancestry. However, there were no differences in the rates of other encounter types, Charlson Comorbidity Index, all other medical and psychological diagnoses, military service history or quality of life metrics. In conclusion, in this aging and predominately undiagnosed sample, 47,XXX conferred few differences when compared with matched controls, offering a more reassuring perspective to the trisomy X literature.","PeriodicalId":7445,"journal":{"name":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","volume":" ","pages":"e32083"},"PeriodicalIF":2.8,"publicationDate":"2024-03-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11374932/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140027176","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

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The National Institutes of Health INvestigation of Co-occurring conditions across the Lifespan to Understand Down syndromE (INCLUDE) Project: Accelerating research discoveries for people with Down syndrome across the lifespan 美国国立卫生研究院 INvestigation of Co-occurring conditions across the Lifespan to Understand Down syndromE (INCLUDE) 项目：加速对唐氏综合症患者整个生命周期的研究发现。

IF 3.1 3区医学

American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2024-01-10 DOI: 10.1002/ajmg.c.32081

Sujata Bardhan, Huiqing Li, Erika Tarver, Charlene Schramm, Marishka Brown, Linda Garcia, Bryanna Schwartz, Anna Mazzucco, Nikila Natarajan, Elizabeth Walsh, Laurie Ryan, Gail Pearson, Melissa A. Parisi

{"title":"The National Institutes of Health INvestigation of Co-occurring conditions across the Lifespan to Understand Down syndromE (INCLUDE) Project: Accelerating research discoveries for people with Down syndrome across the lifespan","authors":"Sujata Bardhan, Huiqing Li, Erika Tarver, Charlene Schramm, Marishka Brown, Linda Garcia, Bryanna Schwartz, Anna Mazzucco, Nikila Natarajan, Elizabeth Walsh, Laurie Ryan, Gail Pearson, Melissa A. Parisi","doi":"10.1002/ajmg.c.32081","DOIUrl":"10.1002/ajmg.c.32081","url":null,"abstract":"The National Institutes of Health (NIH) has a long-standing history of support for research in Down syndrome (DS). In response to a 2018 congressional directive for a trans-NIH initiative to address medical issues in DS, NIH launched the INCLUDE Project (INvestigation of Co-occurring conditions across the Lifespan to Understand Down syndromE). Reflecting the three INCLUDE components of basic science research, cohort development, and clinical trials, the Project has published funding opportunities to address conditions such as immune disorders and Alzheimer's disease. Due to a steady expansion in dedicated funding over its first 5 years, INCLUDE has invested $258 M in over 250 new research projects. INCLUDE also supports training initiatives to expand the number and diversity of investigators studying DS. NIH has funded an INCLUDE Data Coordinating Center that is collecting de-identified clinical information and multi-omics data from research participants for broad data sharing and secondary analyses. Through the DS-Connect® registry, INCLUDE investigators can access recruitment support. The INCLUDE Research Plan articulates research goals for the program, with an emphasis on diversity of research participants and investigators. Finally, a new Cohort Development Program is poised to increase the impact of the INCLUDE Project by recruiting a large DS cohort across the lifespan.","PeriodicalId":7445,"journal":{"name":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","volume":"196 1","pages":""},"PeriodicalIF":3.1,"publicationDate":"2024-01-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139401337","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

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Cover Image, Volume 193, Number 4, December 2023 封面图片，第 193 卷第 4 号，2023 年 12 月

IF 2.8 3区医学

American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2023-12-29 DOI: 10.1002/ajmg.c.31985

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Table of Contents, Volume 193, Number 4, December 2023 目录，第 193 卷，第 4 号，2023 年 12 月

IF 2.8 3区医学

American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2023-12-29 DOI: 10.1002/ajmg.c.31983

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Down syndrome across the lifespan 跨越生命周期的唐氏综合征。

IF 2.8 3区医学

American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2023-12-29 DOI: 10.1002/ajmg.c.32082

Stephanie L. Santoro

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Retrospective review of the code status of individuals with Down syndrome during the COVID-19 era 回顾 COVID-19 时代唐氏综合征患者的代码状态

IF 3.1 3区医学

American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2023-12-12 DOI: 10.1002/ajmg.c.32080

Jennifer Jett, Alexander Fossi, Heather Blonsky, Wendy Ross, Sabra Townsend, Mary M. Stephens, Brian Chicoine, Stephanie L. Santoro

{"title":"Retrospective review of the code status of individuals with Down syndrome during the COVID-19 era","authors":"Jennifer Jett, Alexander Fossi, Heather Blonsky, Wendy Ross, Sabra Townsend, Mary M. Stephens, Brian Chicoine, Stephanie L. Santoro","doi":"10.1002/ajmg.c.32080","DOIUrl":"10.1002/ajmg.c.32080","url":null,"abstract":"Code status is a label in the medical record indicating a patient's wishes for end-of-life (EOL) care in the event of a cardiopulmonary arrest. People with intellectual disabilities had a higher risk of both diagnosis and mortality from coronavirus infections (COVID-19) than the general population. Clinicians and disability advocates raised concerns that bias, diagnostic overshadowing, and ableism could impact the allocation of code status and treatment options, for patients with intellectual disabilities, including Down syndrome (DS). To study this, retrospective claims data from the Vizient® Clinical Data Base (used with permission of Vizient, all rights reserved.) of inpatient encounters with pneumonia (PNA) and/or COVID-19 at 825 hospitals from January 2019 to June 2022 were included. Claims data was analyzed for risk of mortality and risk of “Do Not Resuscitate” (DNR) status upon admission, considering patient age, admission source, Elixhauser comorbidities (excluding behavioral health), and DS. Logistic regression models with backward selection were created. In total, 1,739,549 inpatient encounters with diagnoses of COVID-19, PNA, or both were included. After controlling for other risk factors, a person with a diagnosis of DS and a diagnosis of COVID-19 PNA had 6.321 odds ratio of having a DNR status ordered at admission to the hospital compared with those with COVID-19 PNA without DS. The diagnosis of DS had the strongest association with DNR status after controlling for other risk factors. Open and honest discussions among healthcare professionals to foster equitable approaches to EOL care and code status are needed.","PeriodicalId":7445,"journal":{"name":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","volume":"196 1","pages":""},"PeriodicalIF":3.1,"publicationDate":"2023-12-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138693330","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

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Listening to patients with suspected genetic diagnoses: A narrative perspective 倾听疑似基因诊断的患者:叙述视角。

IF 2.8 3区医学

American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2023-12-04 DOI: 10.1002/ajmg.c.32079

Robert B. Slocum, Anna C. E. Hurst, Ellis Shelley, Lisa Berry, Robert J. Hopkin, Alyssa L. Rippert, Elizabeth Bhoj, John M. Graham Jr, Katheryn Grand, Aixa Gonzalez, Yuri A. Zarate

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Takotsubo cardiomyopathy secondary to electroconvulsive therapy in a young adult with Down syndrome regression disorder 唐氏综合症退行性障碍年轻成人继发于电休克治疗的Takotsubo心肌病

IF 3.1 3区医学

American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2023-12-01 DOI: 10.1002/ajmg.c.32078

María del Carmen Ortega, José Pablo Bullard, María del Mar Unceta, Felipe Ortuño Sánchez-Pedreño, Patricio Molero, Diego Real de Asúa

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