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Medizinische Genetik最新文献

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Contexts of care for people with differences of sex development: Diversity is still missing in the laboratory routine. 照顾性别发展差异人群的背景
IF 0.8 4区 生物学
Medizinische Genetik Pub Date : 2023-08-16 eCollection Date: 2023-09-01 DOI: 10.1515/medgen-2023-2037
Alexandra E Kulle, Martina Jürgensen, Ulla Döhnert, Lisa Malich, Louise Marshall, Olaf Hiort
{"title":"Contexts of care for people with differences of sex development: Diversity is still missing in the laboratory routine.","authors":"Alexandra E Kulle, Martina Jürgensen, Ulla Döhnert, Lisa Malich, Louise Marshall, Olaf Hiort","doi":"10.1515/medgen-2023-2037","DOIUrl":"10.1515/medgen-2023-2037","url":null,"abstract":"<p><p>The 2006 Chicago consensus statement of management of disorders/difference of sex development (DSD) has achieved advantages in clinical care and diagnosis for patients and families affect by DSD. This article provides a brief overview of contexts of care for physicians, and points out specific challenges in clinical practice that have arisen from the transformations of the sex/gender system in recent years. We focus on the impact of diagnosis and laboratory measurements. Both laboratory measurements and hormonal therapies still depend on the binary system. One problem is the lack of reference intervals for the different forms of DSD, which means that diversity is often neglected. In the following, we will give a brief insight into this complex topic.</p>","PeriodicalId":48632,"journal":{"name":"Medizinische Genetik","volume":"35 1","pages":"181-187"},"PeriodicalIF":0.8,"publicationDate":"2023-08-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10842577/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49602200","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Frontmatter 头版头条
4区 生物学
Medizinische Genetik Pub Date : 2023-08-08 DOI: 10.1515/medgen-2023-frontmatter3
{"title":"Frontmatter","authors":"","doi":"10.1515/medgen-2023-frontmatter3","DOIUrl":"https://doi.org/10.1515/medgen-2023-frontmatter3","url":null,"abstract":"","PeriodicalId":48632,"journal":{"name":"Medizinische Genetik","volume":"18 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-08-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135837400","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
35. Tumorgenetische Arbeitstagung 2023 : 20.–22.04.2023, Rostock. 35.肿瘤基因研讨会2023
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2023-06-13 eCollection Date: 2023-06-01 DOI: 10.1515/medgen-2023-2025
{"title":"35. Tumorgenetische Arbeitstagung 2023 : <b>20.–22.04.2023, Rostock</b>.","authors":"","doi":"10.1515/medgen-2023-2025","DOIUrl":"10.1515/medgen-2023-2025","url":null,"abstract":"","PeriodicalId":48632,"journal":{"name":"Medizinische Genetik","volume":"1 1","pages":"139-140"},"PeriodicalIF":1.1,"publicationDate":"2023-06-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10842567/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41670232","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The future role of facial image analysis in ACMG classification guidelines. 面部图像分析在ACMG分类指南中的未来作用
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2023-06-13 eCollection Date: 2023-06-01 DOI: 10.1515/medgen-2023-2014
Hellen Lesmann, Hannah Klinkhammer, Prof Dr Med Dipl Phys Peter M Krawitz
{"title":"The future role of facial image analysis in ACMG classification guidelines.","authors":"Hellen Lesmann, Hannah Klinkhammer, Prof Dr Med Dipl Phys Peter M Krawitz","doi":"10.1515/medgen-2023-2014","DOIUrl":"10.1515/medgen-2023-2014","url":null,"abstract":"<p><p>The use of next-generation sequencing (NGS) has dramatically improved the diagnosis of rare diseases. However, the analysis of genomic data has become complex with the increasing detection of variants by exome and genome sequencing. The American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) developed a 5-tier classification scheme in 2015 for variant interpretation, that has since been widely adopted. Despite efforts to minimise discrepancies in the application of these criteria, inconsistencies still occur. Further specifications for individual genes were developed by Variant Curation Expert Panels (VCEPs) of the Clinical Genome Resource (ClinGen) consortium, that also take into consideration gene or disease specific features. For instance, in disorders with a highly characerstic facial gestalt a \"phenotypic match\" (PP4) has higher pathogenic evidence than e.g. in a non-syndromic form of intellectual disability. With computational approaches for quantifying the similarity of dysmorphic features results of such analysis can now be used in a refined Bayesian framework for the ACMG/AMP criteria.</p>","PeriodicalId":48632,"journal":{"name":"Medizinische Genetik","volume":"35 1","pages":"115-121"},"PeriodicalIF":1.1,"publicationDate":"2023-06-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10842539/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46167812","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Diagnostic genomic sequencing in critically ill children. 危重儿童诊断性基因组测序
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2023-06-13 eCollection Date: 2023-06-01 DOI: 10.1515/medgen-2023-2015
Bernd Auber, Gunnar Schmidt, Chen Du, Sandra von Hardenberg
{"title":"Diagnostic genomic sequencing in critically ill children.","authors":"Bernd Auber, Gunnar Schmidt, Chen Du, Sandra von Hardenberg","doi":"10.1515/medgen-2023-2015","DOIUrl":"10.1515/medgen-2023-2015","url":null,"abstract":"<p><p>Rare genetic diseases are a major cause of severe illnesses and deaths in new-borns and infants. Disease manifestation in critically ill children may be atypical or incomplete, making a monogenetic disease difficult to diagnose clinically. Rapid exome or genome (\"genomic\") sequencing in critically ill children demonstrated profound diagnostic and clinical value, and there is growing evidence that the faster a molecular diagnosis is established in such children, the more likely clinical management is influenced positively. An early molecular diagnosis enables treatment of critically ill children with precision medicine, has the potential to improve patient outcome and leads to healthcare cost savings. In this review, we outline the status quo of rapid genomic sequencing and possible future implications.</p>","PeriodicalId":48632,"journal":{"name":"Medizinische Genetik","volume":"35 1","pages":"105-112"},"PeriodicalIF":1.1,"publicationDate":"2023-06-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10842578/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47987347","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Quality assurance within the context of genome diagnostics (a german perspective). 基因组诊断背景下的质量保证(德国视角)
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2023-06-13 eCollection Date: 2023-06-01 DOI: 10.1515/medgen-2023-2028
Kraft Florian, Anna Benet-Pagès, Daniel Berner, Anna Teubert, Sebastian Eck, Norbert Arnold, Peter Bauer, Matthias Begemann, Marc Sturm, Stephanie Kleinle, Tobias B Haack, Thomas Eggermann
{"title":"Quality assurance within the context of genome diagnostics (a german perspective).","authors":"Kraft Florian, Anna Benet-Pagès, Daniel Berner, Anna Teubert, Sebastian Eck, Norbert Arnold, Peter Bauer, Matthias Begemann, Marc Sturm, Stephanie Kleinle, Tobias B Haack, Thomas Eggermann","doi":"10.1515/medgen-2023-2028","DOIUrl":"10.1515/medgen-2023-2028","url":null,"abstract":"<p><p>The rapid and dynamic implementation of Next-Generation Sequencing (NGS)-based assays has revolutionized genetic testing, and in the near future, nearly all molecular alterations of the human genome will be diagnosable via massive parallel sequencing. While this progress will further corroborate the central role of human genetics in the multidisciplinary management of patients with genetic disorders, it must be accompanied by quality assurance measures in order to allow the safe and optimal use of knowledge ascertained from genome diagnostics. To achieve this, several valuable tools and guidelines have been developed to support the quality of genome diagnostics. In this paper, authors with experience in diverse aspects of genomic analysis summarize the current status of quality assurance in genome diagnostics, with the aim of facilitating further standardization and quality improvement in one of the core competencies of the field.</p>","PeriodicalId":48632,"journal":{"name":"Medizinische Genetik","volume":"35 1","pages":"91-104"},"PeriodicalIF":1.1,"publicationDate":"2023-06-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10842579/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44673792","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Editorial - Diagnostic genome sequencing in rare disorders. 罕见疾病的诊断性基因组测序
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2023-06-13 eCollection Date: 2023-06-01 DOI: 10.1515/medgen-2023-2029
Peter Krawitz, Tobias B Haack
{"title":"Editorial - Diagnostic genome sequencing in rare disorders.","authors":"Peter Krawitz, Tobias B Haack","doi":"10.1515/medgen-2023-2029","DOIUrl":"10.1515/medgen-2023-2029","url":null,"abstract":"","PeriodicalId":48632,"journal":{"name":"Medizinische Genetik","volume":"35 1","pages":"89"},"PeriodicalIF":1.1,"publicationDate":"2023-06-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10842581/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42510168","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
European Certificate in Medical Genetics and Genomics (ECMGG) und European Training Requirements für das Fach Medizinische Genetik : Bericht aus der Sektion für Medizinische Genetik der Europäischen Union der Fachärzte (UEMS). 欧洲医学遗传学和基因组学证书(ECMGG)和欧洲培训要求协会(dr das Fach Medizinische genetic)
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2023-06-13 eCollection Date: 2023-06-01 DOI: 10.1515/medgen-2023-2021
Ute Moog Md PhD
{"title":"European Certificate in Medical Genetics and Genomics (ECMGG) und European Training Requirements für das Fach Medizinische Genetik : <b>Bericht aus der Sektion für Medizinische Genetik der Europäischen Union der Fachärzte (UEMS)</b>.","authors":"Ute Moog Md PhD","doi":"10.1515/medgen-2023-2021","DOIUrl":"10.1515/medgen-2023-2021","url":null,"abstract":"","PeriodicalId":48632,"journal":{"name":"Medizinische Genetik","volume":"35 1","pages":"143-144"},"PeriodicalIF":1.1,"publicationDate":"2023-06-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10842543/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45429856","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Mitteilungen des Berufsverbandes Deutscher Humangenetiker e. V. 德国人类遗传学家专业协会通讯。
4区 生物学
Medizinische Genetik Pub Date : 2023-06-01 DOI: 10.1515/medgen-2023-2017
{"title":"<b>Mitteilungen des Berufsverbandes Deutscher Humangenetiker e. V.</b>","authors":"","doi":"10.1515/medgen-2023-2017","DOIUrl":"https://doi.org/10.1515/medgen-2023-2017","url":null,"abstract":"","PeriodicalId":48632,"journal":{"name":"Medizinische Genetik","volume":"29 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134966655","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Mitteilungen des Berufsverbandes Deutscher Humangenetiker e. V. 德国人类遗传学家专业协会通讯。
4区 生物学
Medizinische Genetik Pub Date : 2023-06-01 DOI: 10.1515/medgen-2023-2026
{"title":"<b>Mitteilungen des Berufsverbandes Deutscher Humangenetiker e. V.</b>","authors":"","doi":"10.1515/medgen-2023-2026","DOIUrl":"https://doi.org/10.1515/medgen-2023-2026","url":null,"abstract":"Vererbte oder erworbene genetische Veränderungen können die Ursachen von Erkrankungen erklären, deren molekulargenetische Diagnosesicherung zusätzlich eine zunehmende Therapierelevanz hat. Ein entscheidender Schritt in der Weiterentwicklung der genetischen Diagnostik war die Einführung des Next Generation Sequencing (NGS), die es ermöglicht, entweder mehrere krankheitsspezifische Gene (NGS-Genpanels) oder alle für Proteine kodierenden Gene (Exome) oder das gesamte menschliche Genom (Genome) zu sequenzieren und die einen wesentlichen Fortschritt in der Diagnosefindung erbringt. Diese genetische Diagnostik wird zu einem wesentlichen Anteil in MVZs der vertragsärztlichen Versorgung mit oder ohne universitärer Anbindung erbracht und sollte ambulanten aber auch stationären PatientInnen zur Verfügung stehen. NGS-Diagnostik ist in der Patientenversorgung angekommen, die Kosten werden oft im internationalen Vergleich bewertet, was zu der Einschätzung einer finanziellen Überbewertung in Deutschland führt: Immer wieder sehen wir uns mit der Aussage konfrontiert, dass die Abrechnung der NGS-Leistung mittels der GOP 11513 dynamisch zunimmt und dieser Entwicklung mit einer Abwertung der 11513 entgegen zu treten ist – dem möchten wir mit nachfolgenden Argumenten entgegenwirken.","PeriodicalId":48632,"journal":{"name":"Medizinische Genetik","volume":"29 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134966656","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","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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