发布求助
文献互助 智能选刊 最新文献

Genetics in Medicine Open最新文献

筛选
英文 中文
Informal prenatal genetic screening education: What can you learn from Google and YouTube? 非正式产前基因筛查教育：您能从谷歌和 YouTube 中学到什么？
Genetics in Medicine Open Pub Date : 2024-01-01 DOI: 10.1016/j.gimo.2024.101821
Erin P. Johnson , Naomi O. Riches , Marwa W. Aljardali , Penelope Nussbaum , Evelyn Dean-Olmsted , Erin Rothwell
{"title":"Informal prenatal genetic screening education: What can you learn from Google and YouTube?","authors":"Erin P. Johnson ,&nbsp;Naomi O. Riches ,&nbsp;Marwa W. Aljardali ,&nbsp;Penelope Nussbaum ,&nbsp;Evelyn Dean-Olmsted ,&nbsp;Erin Rothwell","doi":"10.1016/j.gimo.2024.101821","DOIUrl":"https://doi.org/10.1016/j.gimo.2024.101821","url":null,"abstract":"<div><h3>Purpose</h3><p>The goal of this article is to explore what online education and decision support tools are freely available to patients about prenatal screening.</p></div><div><h3>Methods</h3><p>We (1) conducted an environmental scan using Google Trends to identify and evaluate prenatal screening search terms, (2) created a list of websites and YouTube videos that would be easily accessed by a searcher, and (3) characterized the information within those websites and videos, including an examination of their qualities as a decision support tool and a readability analysis.</p></div><div><h3>Results</h3><p>Fifty websites, containing 62 unique educational resources, and 39 YouTube videos were analyzed. The websites were primarily educational, although the education was provided by a range of sources, including non-profit and for-profit organizations, universities, and governments (ie, public health departments). Readability scores of Patient Education Materials Assessment Tool for Printable Materials for the sites ranged from 50% to 92%, with a median score of 74%. Two of the websites we evaluated met all of the limited decision support standards we applied; 4 of the websites included patient stories or experiences, and 8 included some element of values clarification. Videos were more likely to include values clarification.</p></div><div><h3>Conclusion</h3><p>The information available to patients online is variable. Although most is balanced and informative, much is difficult to read and missing key decision-making factors. Health care providers should work with patients to ensure they have basic comprehension of the prenatal genetic screening materials, possible result outcomes, and expected steps following a positive screening result.</p></div>","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"2 ","pages":"Article 101821"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2949774424009671/pdfft?md5=be05af76da077b3722bfee389dbfd46a&pid=1-s2.0-S2949774424009671-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140041955","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
P032: Decoding the genetic tapestry of long chain fatty acid oxidation disorders: Unveiling novel insights with a dynamic locus-specific gene database P032:解码长链脂肪酸氧化紊乱的基因织锦：利用动态基因位点特异性数据库揭示新见解
Genetics in Medicine Open Pub Date : 2024-01-01 DOI: 10.1016/j.gimo.2024.100909
Vanessa Rangel Miller , Heather Richbourg , Jerry Vockley , Omid Japalaghi , Moeenaldeen AlSayed , Mark Kiel , Stephanie Monteleone , Peter Baker II , Sean Daugherty , Aneal Khan , Lawrence Korngut , Deborah Marsden , Ana Morales , Nicole Miller
{"title":"P032: Decoding the genetic tapestry of long chain fatty acid oxidation disorders: Unveiling novel insights with a dynamic locus-specific gene database","authors":"Vanessa Rangel Miller ,&nbsp;Heather Richbourg ,&nbsp;Jerry Vockley ,&nbsp;Omid Japalaghi ,&nbsp;Moeenaldeen AlSayed ,&nbsp;Mark Kiel ,&nbsp;Stephanie Monteleone ,&nbsp;Peter Baker II ,&nbsp;Sean Daugherty ,&nbsp;Aneal Khan ,&nbsp;Lawrence Korngut ,&nbsp;Deborah Marsden ,&nbsp;Ana Morales ,&nbsp;Nicole Miller","doi":"10.1016/j.gimo.2024.100909","DOIUrl":"https://doi.org/10.1016/j.gimo.2024.100909","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"2 ","pages":"Article 100909"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2949774424000554/pdfft?md5=f44aec0f20c5a2439877a99271a73bf4&pid=1-s2.0-S2949774424000554-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140061772","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
P050: Biallelic variants in POLG2 provides a rare molecular diagnosis in a patient with epilepsy and liver failure P050:POLG2的双倍变体为癫痫和肝衰竭患者提供了罕见的分子诊断结果
Genetics in Medicine Open Pub Date : 2024-01-01 DOI: 10.1016/j.gimo.2024.100927
Vittoria Rossi , Dan Brooks , Hongzheng Dai , Elizabeth Mizerik , Yishay Ben-Moshe , Seema Lalani , Daryl Scott , Fernando Scaglia , Keren Machol , Mir Reza Bekheirnia
{"title":"P050: Biallelic variants in POLG2 provides a rare molecular diagnosis in a patient with epilepsy and liver failure","authors":"Vittoria Rossi ,&nbsp;Dan Brooks ,&nbsp;Hongzheng Dai ,&nbsp;Elizabeth Mizerik ,&nbsp;Yishay Ben-Moshe ,&nbsp;Seema Lalani ,&nbsp;Daryl Scott ,&nbsp;Fernando Scaglia ,&nbsp;Keren Machol ,&nbsp;Mir Reza Bekheirnia","doi":"10.1016/j.gimo.2024.100927","DOIUrl":"https://doi.org/10.1016/j.gimo.2024.100927","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"2 ","pages":"Article 100927"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2949774424000736/pdfft?md5=3955c6f794151b747c46e58e241653a3&pid=1-s2.0-S2949774424000736-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140061891","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
O15: Human endometrial organoid model implicates G6PD-dependant metabolism as a potential targetable pathway in ARID1A mutant gynecological cancers O15：人类子宫内膜类器官模型表明 G6PD 依赖性代谢是 ARID1A 突变型妇科癌症的潜在靶向途径
Genetics in Medicine Open Pub Date : 2024-01-01 DOI: 10.1016/j.gimo.2024.100872
Forouh Kalantari , Dawn Cochrane , Amal El Naggar , Christopher Hughes , Rodrigo Vallejos , Maxwell Douglas , Yemin Wang , Christine Chow , Gian Negri , Gregg Morin , David Huntsman
{"title":"O15: Human endometrial organoid model implicates G6PD-dependant metabolism as a potential targetable pathway in ARID1A mutant gynecological cancers","authors":"Forouh Kalantari ,&nbsp;Dawn Cochrane ,&nbsp;Amal El Naggar ,&nbsp;Christopher Hughes ,&nbsp;Rodrigo Vallejos ,&nbsp;Maxwell Douglas ,&nbsp;Yemin Wang ,&nbsp;Christine Chow ,&nbsp;Gian Negri ,&nbsp;Gregg Morin ,&nbsp;David Huntsman","doi":"10.1016/j.gimo.2024.100872","DOIUrl":"https://doi.org/10.1016/j.gimo.2024.100872","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"2 ","pages":"Article 100872"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2949774424000189/pdfft?md5=97fa3dc9ba3cfb5f4d3262cf8fadbf16&pid=1-s2.0-S2949774424000189-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140061901","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
P006: Evaluation and application of a genetic risk score for uric acid in trans-ancestry All of Us cohort* P006:评估和应用跨髋关节 "我们所有人 "队列中的尿酸遗传风险评分*
Genetics in Medicine Open Pub Date : 2024-01-01 DOI: 10.1016/j.gimo.2024.100883
Katharine Chaillet , Shannon Haines , Jacob Keaton , Slavina Goleva , Tam Tran , Dayo Shittu , Tracey Ferrara , Joshua Denny , Huan Mo , Oleg Shchelochkov
{"title":"P006: Evaluation and application of a genetic risk score for uric acid in trans-ancestry All of Us cohort*","authors":"Katharine Chaillet ,&nbsp;Shannon Haines ,&nbsp;Jacob Keaton ,&nbsp;Slavina Goleva ,&nbsp;Tam Tran ,&nbsp;Dayo Shittu ,&nbsp;Tracey Ferrara ,&nbsp;Joshua Denny ,&nbsp;Huan Mo ,&nbsp;Oleg Shchelochkov","doi":"10.1016/j.gimo.2024.100883","DOIUrl":"https://doi.org/10.1016/j.gimo.2024.100883","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"2 ","pages":"Article 100883"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2949774424000293/pdfft?md5=868442c3f493a8b39e13e06d07accd54&pid=1-s2.0-S2949774424000293-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140061906","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
P042: Prolonged survival of a patient with combined oxidative phosphorylation deficiency 11 secondary to biallelic variants in the RMND1 gene P042：一名继发于RMND1基因双倍变异的合并氧化磷酸化缺陷11患者的存活时间延长
Genetics in Medicine Open Pub Date : 2024-01-01 DOI: 10.1016/j.gimo.2024.100919
Milena Fraustro , Maria Badino , Alejandro Diaz , Ana Maria Rodriguez Barreto
{"title":"P042: Prolonged survival of a patient with combined oxidative phosphorylation deficiency 11 secondary to biallelic variants in the RMND1 gene","authors":"Milena Fraustro ,&nbsp;Maria Badino ,&nbsp;Alejandro Diaz ,&nbsp;Ana Maria Rodriguez Barreto","doi":"10.1016/j.gimo.2024.100919","DOIUrl":"https://doi.org/10.1016/j.gimo.2024.100919","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"2 ","pages":"Article 100919"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2949774424000657/pdfft?md5=18c6835360595c4b37dcb1b88444d5fe&pid=1-s2.0-S2949774424000657-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140061917","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
P060: Response to intravenous citrate on a patient on CKRT with pyruvate carboxylase deficiency type B (severe neonatal form) P060:丙酮酸羧化酶缺乏症 B 型（严重新生儿型）接受 CKRT 的患者对静脉注射枸橼酸盐的反应
Genetics in Medicine Open Pub Date : 2024-01-01 DOI: 10.1016/j.gimo.2024.100937
Mercedes Rodriguez Celin , Hollis Johnson , Joshua Fields , Hannah Brodner , Jennifer Stengrevics , Ellen Cody , Lauren Burgunder , Michael Muriello , Kelly Jones
{"title":"P060: Response to intravenous citrate on a patient on CKRT with pyruvate carboxylase deficiency type B (severe neonatal form)","authors":"Mercedes Rodriguez Celin ,&nbsp;Hollis Johnson ,&nbsp;Joshua Fields ,&nbsp;Hannah Brodner ,&nbsp;Jennifer Stengrevics ,&nbsp;Ellen Cody ,&nbsp;Lauren Burgunder ,&nbsp;Michael Muriello ,&nbsp;Kelly Jones","doi":"10.1016/j.gimo.2024.100937","DOIUrl":"https://doi.org/10.1016/j.gimo.2024.100937","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"2 ","pages":"Article 100937"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2949774424000839/pdfft?md5=a211bc460f2daafdd2ca735c9432fde2&pid=1-s2.0-S2949774424000839-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140061957","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
P049: Exploring the landscape of phenylketonuria education and learning needs of genetics trainees P049：探讨苯丙酮尿症教育的现状和遗传学学员的学习需求
Genetics in Medicine Open Pub Date : 2024-01-01 DOI: 10.1016/j.gimo.2024.100926
Kyle Lamprecht , Kristin Lindstrom , Bridget Wardley , Sarah Rose
{"title":"P049: Exploring the landscape of phenylketonuria education and learning needs of genetics trainees","authors":"Kyle Lamprecht ,&nbsp;Kristin Lindstrom ,&nbsp;Bridget Wardley ,&nbsp;Sarah Rose","doi":"10.1016/j.gimo.2024.100926","DOIUrl":"https://doi.org/10.1016/j.gimo.2024.100926","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"2 ","pages":"Article 100926"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2949774424000724/pdfft?md5=e01ee7df54ce222d4ccc6c00f8e6314c&pid=1-s2.0-S2949774424000724-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140062030","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
P016: Expanded clinical phenotype and the role of untargeted metabolomics analysis in confirming the diagnosis of sodium-dependent multivitamin transporter deficiency P016:扩展临床表型和非靶向代谢组学分析在确诊钠依赖性多维生素转运体缺乏症中的作用
Genetics in Medicine Open Pub Date : 2024-01-01 DOI: 10.1016/j.gimo.2024.100893
Ameya Walimbe , Emily Waskow , Laura Mackay , Charul Gijavanekar , Marcus Miller , Sarah Elsea , Fernando Scaglia
{"title":"P016: Expanded clinical phenotype and the role of untargeted metabolomics analysis in confirming the diagnosis of sodium-dependent multivitamin transporter deficiency","authors":"Ameya Walimbe ,&nbsp;Emily Waskow ,&nbsp;Laura Mackay ,&nbsp;Charul Gijavanekar ,&nbsp;Marcus Miller ,&nbsp;Sarah Elsea ,&nbsp;Fernando Scaglia","doi":"10.1016/j.gimo.2024.100893","DOIUrl":"https://doi.org/10.1016/j.gimo.2024.100893","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"2 ","pages":"Article 100893"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2949774424000396/pdfft?md5=459308c5feb94f492dc57b4d6b4f087c&pid=1-s2.0-S2949774424000396-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140062077","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
O29: Low rate of hereditary ovarian cancer screening in individuals meeting National Comprehensive Cancer Network guidelines O29：符合美国国家综合癌症网络指南的遗传性卵巢癌筛查率低
Genetics in Medicine Open Pub Date : 2024-01-01 DOI: 10.1016/j.gimo.2024.100943
Jacklyn Omorodion , Emma Perez , Robert Green , Pradeep Natarajan , Nina Gold
{"title":"O29: Low rate of hereditary ovarian cancer screening in individuals meeting National Comprehensive Cancer Network guidelines","authors":"Jacklyn Omorodion ,&nbsp;Emma Perez ,&nbsp;Robert Green ,&nbsp;Pradeep Natarajan ,&nbsp;Nina Gold","doi":"10.1016/j.gimo.2024.100943","DOIUrl":"https://doi.org/10.1016/j.gimo.2024.100943","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"2 ","pages":"Article 100943"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S294977442400089X/pdfft?md5=9d1a645bb1883fde03f4e081f989bfbb&pid=1-s2.0-S294977442400089X-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140062085","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
首页 上一页 下一页 尾页
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整，为了账户安全，请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
请完成安全验证×
相关产品
×
本文献相关产品
联系我们：info@booksci.cn Book学术提供免费学术资源搜索服务，方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号：481959085
Book学术官方微信