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

Applications of artificial intelligence in clinical laboratory genomics 人工智能在临床实验室基因组学中的应用。

IF 3.1 3区医学

American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2023-07-28 DOI: 10.1002/ajmg.c.32057

Swaroop Aradhya, Flavia M. Facio, Hillery Metz, Toby Manders, Alexandre Colavin, Yuya Kobayashi, Keith Nykamp, Britt Johnson, Robert L. Nussbaum

{"title":"Applications of artificial intelligence in clinical laboratory genomics","authors":"Swaroop Aradhya, Flavia M. Facio, Hillery Metz, Toby Manders, Alexandre Colavin, Yuya Kobayashi, Keith Nykamp, Britt Johnson, Robert L. Nussbaum","doi":"10.1002/ajmg.c.32057","DOIUrl":"10.1002/ajmg.c.32057","url":null,"abstract":"The transition from analog to digital technologies in clinical laboratory genomics is ushering in an era of “big data” in ways that will exceed human capacity to rapidly and reproducibly analyze those data using conventional approaches. Accurately evaluating complex molecular data to facilitate timely diagnosis and management of genomic disorders will require supportive artificial intelligence methods. These are already being introduced into clinical laboratory genomics to identify variants in DNA sequencing data, predict the effects of DNA variants on protein structure and function to inform clinical interpretation of pathogenicity, link phenotype ontologies to genetic variants identified through exome or genome sequencing to help clinicians reach diagnostic answers faster, correlate genomic data with tumor staging and treatment approaches, utilize natural language processing to identify critical published medical literature during analysis of genomic data, and use interactive chatbots to identify individuals who qualify for genetic testing or to provide pre-test and post-test education. With careful and ethical development and validation of artificial intelligence for clinical laboratory genomics, these advances are expected to significantly enhance the abilities of geneticists to translate complex data into clearly synthesized information for clinicians to use in managing the care of their patients at scale.","PeriodicalId":7445,"journal":{"name":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","volume":null,"pages":null},"PeriodicalIF":3.1,"publicationDate":"2023-07-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/ajmg.c.32057","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9888181","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}

引用次数: 3

Table of Contents, Volume 193, Number 2, June 2023 目录，第193卷第2期，2023年6月

IF 3.1 3区医学

American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2023-06-21 DOI: 10.1002/ajmg.c.31977

引用次数: 0

Publication schedule for 2023 2023年出版时间表

IF 3.1 3区医学

American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2023-06-21 DOI: 10.1002/ajmg.c.31978

引用次数: 0

Cover Image, Volume 193, Number 2, June 2023 封面图片，第193卷，第2期，2023年6月

IF 3.1 3区医学

American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2023-06-21 DOI: 10.1002/ajmg.c.31979

引用次数: 0

Unmasking the challenges of Kabuki syndrome in adulthood: A case series 揭示歌舞伎综合症在成年期的挑战:一个案例系列

IF 3.1 3区医学

American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2023-06-09 DOI: 10.1002/ajmg.c.32054

Jessica R. C. Priestley, Alyssa L. Rippert, Courtney Condit, Kosuke Izumi, Staci Kallish, Theodore G. Drivas

引用次数: 0

Autosomal dominant genodermatoses in adults being heralded by superimposed skin lesions in children 常染色体显性遗传性皮肤病在成人是预示着叠加皮肤病变的儿童

IF 3.1 3区医学

American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2023-06-08 DOI: 10.1002/ajmg.c.32055

Rudolf Happle

{"title":"Autosomal dominant genodermatoses in adults being heralded by superimposed skin lesions in children","authors":"Rudolf Happle","doi":"10.1002/ajmg.c.32055","DOIUrl":"10.1002/ajmg.c.32055","url":null,"abstract":"In autosomal dominant skin disorders, pronounced mosaic involvement may sometimes occur in the neonate, originating in a heterozygous embryo from early loss of heterozygosity, probably during the first week after fertilization. In biallelic phenotypes, such overlaying mosaic involvement may coexist with disseminated mosaicism, for example, in neurofibromatosis or tuberous sclerosis. In other phenotypes, however, classical nonsegmental involvement tends to appear much later, which is why the superimposed mosaic is a heralding feature. In Brooke–Spiegler syndrome (eccrine cylindromatosis), a large pedigree documented a 5-year-old boy with multiple, congenital small eccrine cylindromas along the lines of Blaschko. Disseminated cylindromas were absent because they usually appear in adulthood. ̶ In Hornstein–Knickenberg syndrome, an affected woman had an 8-year-old son with a nevus comedonicus-like lesion exemplifying a forerunner of the syndrome. (“Birt-Hogg-Dubé syndrome” represents a nonsyndromic type of hereditary perifollicular fibromas.) In glomangiomatosis, neonatal superimposed mosaicism is a heralding feature because disseminated lesions appear during puberty or adulthood. Linear porokeratosis is a harbinger of disseminated porokeratosis that develops 30 or 40 years later. ̶ Cases of superimposed linear Darier disease were forerunners of nonsegmental manifestation. ̶ In a case of Hailey–Hailey disease, neonatal mosaic lesions heralded nonsegmental involvement that began 22 years later.","PeriodicalId":7445,"journal":{"name":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","volume":null,"pages":null},"PeriodicalIF":3.1,"publicationDate":"2023-06-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/ajmg.c.32055","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9664062","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}

引用次数: 0

Spectrum of white matter abnormalities associated with FOXC1-related disorders in two unrelated cases 两个不相关病例中foxc1相关疾病的白质异常谱

IF 3.1 3区医学

American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2023-05-31 DOI: 10.1002/ajmg.c.32051

Tasnim Tabassum, D'Agostino Maria Daniela, Roberta La Piana

引用次数: 0

Neurodevelopmental and other psychiatric disorders in 22q11.2 deletion syndrome from childhood to adult age: Prospective longitudinal study of 100 individuals 22q11.2缺失综合征从儿童期到成年期的神经发育和其他精神疾病:100人的前瞻性纵向研究

IF 3.1 3区医学

American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2023-05-29 DOI: 10.1002/ajmg.c.32052

Lena Wallin, Christopher Gillberg, Elisabeth Fernell, Carina Gillberg, Eva Billstedt

{"title":"Neurodevelopmental and other psychiatric disorders in 22q11.2 deletion syndrome from childhood to adult age: Prospective longitudinal study of 100 individuals","authors":"Lena Wallin, Christopher Gillberg, Elisabeth Fernell, Carina Gillberg, Eva Billstedt","doi":"10.1002/ajmg.c.32052","DOIUrl":"10.1002/ajmg.c.32052","url":null,"abstract":"The 22q11.2 deletion syndrome (22q11.2DS), affects physical as well as cognitive and emotional functioning with increased risk for psychiatric and behavioral problems. This longitudinal study of 79 individuals (18–50 years) with 22q11.2DS investigated neurodevelopmental (NDD) and psychiatric disorders in adulthood, evaluated the stability of childhood diagnoses over time, and examined associations between clinical characteristics in childhood/adolescence and diagnostic outcome in adult age. Examination using validated instruments for cognitive, psychiatric, and global functional problems in the context of an in-depth clinical evaluation found adult age stability of NDD diagnoses made in childhood, however, rates increased at follow-up. Rates of anxiety, mood, and psychotic disorders were high, with a majority meeting diagnostic criteria for one or more psychiatric disorder. The rate of psychotic disorders was much lower compared to many other studies. Variability in functioning at follow-up was primarily associated with intellectual ability at T1. The findings obtained highlight the increased risk of NDD and psychiatric problems and of cognitive impairment and reduced levels of global functioning over time. Results emphasize the importance of clinical follow-up to enable appropriate support for the promotion of optimal health along with a need for future research on effective interventions and treatment strategies.","PeriodicalId":7445,"journal":{"name":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","volume":null,"pages":null},"PeriodicalIF":3.1,"publicationDate":"2023-05-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/ajmg.c.32052","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10045468","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}

引用次数: 1

Spondyloepimetaphyseal dysplasia with joint laxity type 2: Aggregating the literature and reporting on the life of a 66-year-old man 2型椎弓根骺端发育不良伴关节松弛:收集66岁男性的文献和生活报告

IF 3.1 3区医学

American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2023-05-24 DOI: 10.1002/ajmg.c.32053

Alexander Beke, Karina da Costa Silveira, Taryn Athey, Peter Kannu

{"title":"Spondyloepimetaphyseal dysplasia with joint laxity type 2: Aggregating the literature and reporting on the life of a 66-year-old man","authors":"Alexander Beke, Karina da Costa Silveira, Taryn Athey, Peter Kannu","doi":"10.1002/ajmg.c.32053","DOIUrl":"10.1002/ajmg.c.32053","url":null,"abstract":"Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type (SEMDJL2), is a rare bone dysplasia that results from hotspot (amino acids148/149) mutations in KIF22. Clinically, affected individuals present with generalized joint laxity, limb malalignment, midface hypoplasia, gracile digits, postnatal short stature, and occasionally, tracheolaryngomalacia; additionally, radiological features include severe epi-metaphyseal abnormalities and slender metacarpals. This report evaluates the progression of SEMDJL2 throughout the life of the oldest individual reported in the literature—a 66-year-old man with a pathogenic KIF22 variant (c.443C > T, p.Pro148Leu). The proband developed many of the clinical and radiological alterations consistent with the presentation of other individuals in the literature. Interestingly, throughout his life, joint limitation progressed, beginning with knee and elbow stricture (year 20), and later, limitation of the shoulders, hips, ankles, and wrists (year 40). This differs from previous case reports, where joint limitation is identified in 1-to-2 joints. Cumulatively, the progressive body-wide joint limitation resulted in early retirement (year 45) and difficulty completing daily tasks and managing personal hygiene culminating in the need for assisted living (year 65). In conclusion, we report on the clinical and radiological developments of a 66-year-old man with SEMDJL2, that developed significant joint limitation in adulthood.","PeriodicalId":7445,"journal":{"name":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","volume":null,"pages":null},"PeriodicalIF":3.1,"publicationDate":"2023-05-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/ajmg.c.32053","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9671266","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}

引用次数: 0

Rod-cone dystrophy in an adult with GNB1-related disorder: An expansion of the phenotype and natural history 成人gnb1相关疾病的杆状锥体营养不良:表型和自然史的扩展

IF 3.1 3区医学

American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2023-05-22 DOI: 10.1002/ajmg.c.32045

Xiao-Ru Yang, Faazil Kassam, A. Micheil Innes

引用次数: 0