American Journal of Medical Genetics Part C: Seminars in Medical Genetics最新文献_第5页

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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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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Health care satisfaction and medical literacy habits among caregivers of individuals with Down syndrome 唐氏综合症患者护理人员的医疗保健满意度和医学知识习惯。

IF 3.1 3区医学

American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2023-11-09 DOI: 10.1002/ajmg.c.32074

Heidi Berger, Jill Wittman, Katelyn Smith, Nora Horick, Kenneth Norris, Allison Young, Javier Magana Gomez, Kenia Kristel Esparza Ocampo, Brian G. Skotko

{"title":"Health care satisfaction and medical literacy habits among caregivers of individuals with Down syndrome","authors":"Heidi Berger, Jill Wittman, Katelyn Smith, Nora Horick, Kenneth Norris, Allison Young, Javier Magana Gomez, Kenia Kristel Esparza Ocampo, Brian G. Skotko","doi":"10.1002/ajmg.c.32074","DOIUrl":"10.1002/ajmg.c.32074","url":null,"abstract":"Patients with Down syndrome have significant specialized health care needs. Our objective was to understand the needs, satisfaction, and online habits of caregivers as they care for persons with Down syndrome. A mixed-method survey was distributed through REDCap from April 2022 to June 2022 in the United States; a Spanish-translated version was distributed through SurveyMonkey from August 2022 to March 2023 in Mexico. We received 290 completed responses from the United States and 58 from caregivers in Mexico. We found that current health care options are not meeting the needs of many individuals with DS in both the United States (39.7%) and Mexico (46.6%). Caregivers expressed frustrations with the inaccessibility and inapplicability of health care information. In particular, they often found the volume of information overwhelming, given their limited medical background. Additionally, health care recommendations were not customized and lacked practical recommendations. Most caregivers in both the United States (72.1%) and Mexico (82.8%) believe it is not easy to find answers to medical questions about their loved ones with DS. Online platforms with customized, specific health information related to DS could offer innovative solutions to these unmet needs for families and primary care providers.","PeriodicalId":7445,"journal":{"name":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","volume":"196 1","pages":""},"PeriodicalIF":3.1,"publicationDate":"2023-11-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"72013060","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}

引用次数: 0

Family adaptation in families of individuals with Down syndrome from 12 countries 来自12个国家的唐氏综合症患者家庭的家庭适应。

IF 3.1 3区医学

American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2023-11-06 DOI: 10.1002/ajmg.c.32075

Marcia Van Riper, George J. Knafl, Kathleen A. Knafl, Maria do Céu Barbieri-Figueiredo, Sivia Barnoy, Maria Caples, Hyunkyung Choi, Beth Cosgrove, Elysângela Dittz Duarte, Junko Honda, Elena Marta, Supapak Phetrasuwan, Sara Alfieri, Margareth Angelo, Wannee Deoisres, Louise Fleming, Aline Soares dos Santos, Maria João Rocha da Silva

{"title":"Family adaptation in families of individuals with Down syndrome from 12 countries","authors":"Marcia Van Riper, George J. Knafl, Kathleen A. Knafl, Maria do Céu Barbieri-Figueiredo, Sivia Barnoy, Maria Caples, Hyunkyung Choi, Beth Cosgrove, Elysângela Dittz Duarte, Junko Honda, Elena Marta, Supapak Phetrasuwan, Sara Alfieri, Margareth Angelo, Wannee Deoisres, Louise Fleming, Aline Soares dos Santos, Maria João Rocha da Silva","doi":"10.1002/ajmg.c.32075","DOIUrl":"10.1002/ajmg.c.32075","url":null,"abstract":"Our current understanding of adaptation in families of individuals with Down syndrome (DS) is based primarily on findings from studies focused on participants from a single country. Guided by the Resiliency Model of Family Stress, Adjustment, and Adaptation, the purpose of this cross-country investigation, which is part of a larger, mixed methods study, was twofold: (1) to compare family adaptation in 12 countries, and (2) to examine the relationships between family variables and family adaptation. The focus of this study is data collected in the 12 countries where at least 30 parents completed the survey. Descriptive statistics were generated, and mean family adaptation was modeled in terms of each predictor independently, controlling for an effect on covariates. A parsimonious composite model for mean family adaptation was adaptively generated. While there were cross-country differences, standardized family adaptation mean scores fell within the average range for all 12 countries. Key components of the guiding framework (i.e., family demands, family appraisal, family resources, and family problem-solving communication) were important predictors of family adaptation. More cross-country studies, as well as longitudinal studies, are needed to fully understand how culture and social determinants of health influence family adaptation in families of individuals with DS.","PeriodicalId":7445,"journal":{"name":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","volume":"196 1","pages":""},"PeriodicalIF":3.1,"publicationDate":"2023-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71477036","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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