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American Journal of Medical Genetics Part C: Seminars in Medical Genetics最新文献

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My Journey With Arthrogryposis and Some of the People Who Made a Difference. 我的关节发育不良之旅》和一些改变我命运的人。
IF 2.8 3区 医学
American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2024-11-01 DOI: 10.1002/ajmg.c.32121
Judith G Hall
{"title":"My Journey With Arthrogryposis and Some of the People Who Made a Difference.","authors":"Judith G Hall","doi":"10.1002/ajmg.c.32121","DOIUrl":"https://doi.org/10.1002/ajmg.c.32121","url":null,"abstract":"","PeriodicalId":7445,"journal":{"name":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","volume":null,"pages":null},"PeriodicalIF":2.8,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142563734","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
Everyone Is a Tomato: Metagnostic Narratives of Genetic Revelation. 人人都是番茄：基因启示的元叙事》。
IF 2.8 3区 医学
American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2024-10-25 DOI: 10.1002/ajmg.c.32118
Danielle Spencer
{"title":"Everyone Is a Tomato: Metagnostic Narratives of Genetic Revelation.","authors":"Danielle Spencer","doi":"10.1002/ajmg.c.32118","DOIUrl":"https://doi.org/10.1002/ajmg.c.32118","url":null,"abstract":"<p><p>This essay explores the narrative characteristics of genetic revelations as instances of \"metagnosis.\" Contrasting the scientific narrative of increasing knowledge with a series of different stories-including fictional tales-demonstrates the complexity of receiving information that changes one's conception of self, whatever the nature of the revelation. Such narrative awareness can help to communalize such experiences, reducing feelings of isolation and bewilderment.</p>","PeriodicalId":7445,"journal":{"name":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","volume":null,"pages":null},"PeriodicalIF":2.8,"publicationDate":"2024-10-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142492829","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
Correction to "Experiences With Offering Pro Bono Medical Genetics Services in the West Indies: Benefits to Patients, Physicians, and the Community". 更正 "在西印度群岛提供公益性医学遗传学服务的经验：对患者、医生和社区的益处"。
IF 2.8 3区 医学
American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2024-10-24 DOI: 10.1002/ajmg.c.32120
{"title":"Correction to \"Experiences With Offering Pro Bono Medical Genetics Services in the West Indies: Benefits to Patients, Physicians, and the Community\".","authors":"","doi":"10.1002/ajmg.c.32120","DOIUrl":"https://doi.org/10.1002/ajmg.c.32120","url":null,"abstract":"","PeriodicalId":7445,"journal":{"name":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","volume":null,"pages":null},"PeriodicalIF":2.8,"publicationDate":"2024-10-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142492828","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
Pink, White, and Probability. 粉色、白色和概率
IF 2.8 3区 医学
American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2024-10-20 DOI: 10.1002/ajmg.c.32119
Chaya N Murali
{"title":"Pink, White, and Probability.","authors":"Chaya N Murali","doi":"10.1002/ajmg.c.32119","DOIUrl":"https://doi.org/10.1002/ajmg.c.32119","url":null,"abstract":"<p><p>An early career geneticist confronts the limits of our field when a critically ill infant is diagnosed with an ultra-rare metabolic disorder.</p>","PeriodicalId":7445,"journal":{"name":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","volume":null,"pages":null},"PeriodicalIF":2.8,"publicationDate":"2024-10-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142455796","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 Lore, a Variant of Uncertain Significance, and CADASIL. 家族传说、意义不明的变异体和 CADASIL。
IF 2.8 3区 医学
American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2024-10-20 DOI: 10.1002/ajmg.c.32117
Rhys Duarte, Liesbeth Vossaert, Sandra A Darilek, Chelsi Rose, Evan Schauer, Christian Parobek, Emily Bland, Keren Machol, Elizabeth Mizerik, Chaya N Murali
{"title":"Family Lore, a Variant of Uncertain Significance, and CADASIL.","authors":"Rhys Duarte, Liesbeth Vossaert, Sandra A Darilek, Chelsi Rose, Evan Schauer, Christian Parobek, Emily Bland, Keren Machol, Elizabeth Mizerik, Chaya N Murali","doi":"10.1002/ajmg.c.32117","DOIUrl":"https://doi.org/10.1002/ajmg.c.32117","url":null,"abstract":"<p><p>An infant presents in extremis. After the medical team stabilizes him, the race is on to figure out why he got so sick in the first place. The consulting genetics team thinks that it is unlikely his problems are due to a genetic cause, but his extreme, confounding presentation is enough to justify trio exome sequencing. When the results reveal an unexpected, paternally inherited variant of uncertain significance (VUS) in NOTCH3, fresh questions arise. The infant's presenting symptoms and descriptive diagnoses, including hematemesis, epistaxis, and gastric ulcers, certainly do not fit the mold of CADASIL. However, closer inspection of his family history yields tantalizing clues: a father and paternal grandfather with seizures, and a paternal grandfather with unexplained mood disturbances in middle age. Combining details gleaned from the family history and medical literature, the clinical genetics and laboratory genetics team collaborated, reclassified the VUS as likely pathogenic, and offered a new unifying diagnosis to explain much of the family's lore.</p>","PeriodicalId":7445,"journal":{"name":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","volume":null,"pages":null},"PeriodicalIF":2.8,"publicationDate":"2024-10-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142455795","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
A Rorschach Test. 罗夏克测试
IF 2.8 3区 医学
American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2024-10-09 DOI: 10.1002/ajmg.c.32116
Oana Caluseriu
{"title":"A Rorschach Test.","authors":"Oana Caluseriu","doi":"10.1002/ajmg.c.32116","DOIUrl":"https://doi.org/10.1002/ajmg.c.32116","url":null,"abstract":"<p><p>Unexpectedly intersecting her path with a person with a congenital anomaly gives the writer an opportunity to reflect on her own understanding of patients outside the medical perimeter that ultimately influences her point of view during the hospital encounter.</p>","PeriodicalId":7445,"journal":{"name":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","volume":null,"pages":null},"PeriodicalIF":2.8,"publicationDate":"2024-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142387237","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
The Myhre Syndrome Foundation as a global modern support group: The business of rare. 迈尔综合征基金会是一个全球性的现代支持团体：罕见病的生意
IF 2.8 3区 医学
American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2024-10-01 DOI: 10.1002/ajmg.c.32104
Kate Wears, Angela E Lin, Lois J Starr
{"title":"The Myhre Syndrome Foundation as a global modern support group: The business of rare.","authors":"Kate Wears, Angela E Lin, Lois J Starr","doi":"10.1002/ajmg.c.32104","DOIUrl":"10.1002/ajmg.c.32104","url":null,"abstract":"<p><p>Advocacy support groups grow into national and international organizations, but they all begin with personal experiences. As the parents to a newly diagnosed two-year-old son with Myhre syndrome, my husband and I were overwhelmed with the journey ahead. Thanks to networking, primarily through social media, we located other families living with Myhre syndrome and were quickly immersed in the challenges and joy of this community. Myhre syndrome, caused by pathogenic missense variants in SMAD4, is a rare connective tissue disease characterized by short stature, hearing loss, neurodevelopmental challenges, and fibroproliferation. This personal essay, written with physician partners, describes the development of a global advocacy group for patients with Myhre syndrome. I have the honor of serving as the founding Executive Director and reflect proudly on the great strides that our marvelous support group has made. We empower the global community impacted by this rare condition by providing meaningful and accessible data, educational opportunities, and connections with others going through similar experiences. Utilizing the expertise of our Board of Directors and my corporate expertise, we discuss how we have been able to elevate our ultra-rare community into a broader, more comprehensive network.</p>","PeriodicalId":7445,"journal":{"name":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","volume":null,"pages":null},"PeriodicalIF":2.8,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142339187","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
Perspectives and Insights Into Phenylketonuria: Provider Narratives About the Early Years Following Newborn Screening. 对苯丙酮尿症的看法和见解：提供者讲述新生儿筛查后的最初几年。
IF 2.8 3区 医学
American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2024-09-09 DOI: 10.1002/ajmg.c.32111
Suzanne Hollander, Harvey Levy, Fran Rohr, Susan Waisbren, Priscila Rincon, Ann Wessel, Stephanie Sacharow
{"title":"Perspectives and Insights Into Phenylketonuria: Provider Narratives About the Early Years Following Newborn Screening.","authors":"Suzanne Hollander, Harvey Levy, Fran Rohr, Susan Waisbren, Priscila Rincon, Ann Wessel, Stephanie Sacharow","doi":"10.1002/ajmg.c.32111","DOIUrl":"https://doi.org/10.1002/ajmg.c.32111","url":null,"abstract":"<p><p>The understanding of phenylketonuria (PKU), guidelines, and treatment landscape have evolved dramatically over the decades since newborn screen implementation. We capture this rich history from the stories and experiences of a multidisciplinary provider team from Boston Children's Hospital's PKU Clinic, who treated PKU from the early years of newborn screening and who worked together for over 40 years.</p>","PeriodicalId":7445,"journal":{"name":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","volume":null,"pages":null},"PeriodicalIF":2.8,"publicationDate":"2024-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142152985","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
Shattered Dreams: Reflections on Loss and Resilience. 破碎的梦想关于失去和复原的思考》。
IF 2.8 3区 医学
American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2024-09-05 DOI: 10.1002/ajmg.c.32112
Taylor Kerrins
{"title":"Shattered Dreams: Reflections on Loss and Resilience.","authors":"Taylor Kerrins","doi":"10.1002/ajmg.c.32112","DOIUrl":"https://doi.org/10.1002/ajmg.c.32112","url":null,"abstract":"","PeriodicalId":7445,"journal":{"name":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","volume":null,"pages":null},"PeriodicalIF":2.8,"publicationDate":"2024-09-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142131599","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
Significance of Variants of Uncertain Significance: The Human Cost of Genetic Uncertainty. 意义不明的变异基因的意义：遗传不确定性的人类代价》。
IF 2.8 3区 医学
American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2024-08-31 DOI: 10.1002/ajmg.c.32109
Damla Gonullu-Rotman
{"title":"Significance of Variants of Uncertain Significance: The Human Cost of Genetic Uncertainty.","authors":"Damla Gonullu-Rotman","doi":"10.1002/ajmg.c.32109","DOIUrl":"https://doi.org/10.1002/ajmg.c.32109","url":null,"abstract":"<p><p>This piece narrates the journey of Maria (name of the mother has been altered to protect the family's privacy), a new mother confronting her newborn's unexpected diagnosis of very long chain acyl-CoA dehydrogenase (VLCAD) deficiency, despite undergoing proactive genetic carrier screening within a consanguineous marriage. It highlights the emotional and systemic challenges arising from the lack of diversity in genetic databases, which, in this case, failed to detect pathogenic variants in Maria and her husband. Maria's story sheds light on situations where a masked variant of uncertain significance (VUS) necessitates consultation with a trained genetics specialist and underscores the urgent need for a more equitable healthcare system.</p>","PeriodicalId":7445,"journal":{"name":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","volume":null,"pages":null},"PeriodicalIF":2.8,"publicationDate":"2024-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142103417","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
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