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Clinical diagnosis of the monogenic Ehlers-Danlos syndromes. 单基因Ehlers-Danlos综合征的临床诊断。
IF 1.1 4区 生物学
Medizinische Genetik
Pub Date : 2024-12-03 eCollection Date: 2024-12-01 DOI: 10.1515/medgen-2024-2060
Fleur S van Dijk, Chloe Angwin, Serwet Demirdas, Neeti Ghali, Johannes Zschocke

Monogenic Ehlers-Danlos syndromes (EDS) are a group of inherited connective tissue conditions that are clinically characterised by joint hypermobility, skin hyperextensibility and/or fragility, and generalised tissue fragility. Gene panel testing with massively parallel sequencing is currently gold standard to confirm diagnoses of the monogenic EDS types. We aim to report on the (combination of) clinical features of the monogenic EDS types through text and photographs, to aid clinical diagnosis as despite the significant progress in genetic testing possibilities, a thorough clinical assessment which includes medical history, family history and physical examination remains important in the diagnostic process. In addition, in those cases where no molecular diagnosis is possible, a clinical diagnosis can still guide management and surveillance.

单基因ehers - danlos综合征（EDS）是一组遗传性结缔组织疾病，其临床特征为关节过度活动、皮肤过度伸展和/或脆弱，以及普遍的组织脆弱。大规模平行测序的基因面板检测是目前确认单基因EDS类型诊断的金标准。我们的目标是通过文本和照片报告单基因EDS类型的临床特征（组合），以帮助临床诊断，尽管基因检测的可能性取得了重大进展，但在诊断过程中，包括病史、家族史和体格检查在内的全面临床评估仍然很重要。此外，在无法进行分子诊断的情况下，临床诊断仍然可以指导管理和监测。
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引用次数: 0
Die neue, mit den Fachgruppen "konsentierte" Fassung der GOÄ - eine unendliche Geschichte mit inakzeptablem Ende. 这一集的结尾是一个“未完成的故事”，讲述的是一个不确定的结局。
IF 1.1 4区 生物学
Medizinische Genetik
Pub Date : 2024-12-03 eCollection Date: 2024-12-01 DOI: 10.1515/medgen-2024-2051
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引用次数: 0
Editorial. 社论。
IF 1.1 4区 生物学
Medizinische Genetik
Pub Date : 2024-12-03 eCollection Date: 2024-12-01 DOI: 10.1515/medgen-2024-2050
Johannes Zschocke, Fleur S van Dijk
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引用次数: 0
20 Jahre universitäre Humangenetik in Regensburg. 雷根斯堡大学人类遗传学20年。
IF 1.1 4区 生物学
Medizinische Genetik
Pub Date : 2024-12-03 eCollection Date: 2024-12-01 DOI: 10.1515/medgen-2024-2046
Bernhard H F Weber
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引用次数: 0
Non-genetic diagnostic investigations in monogenic Ehlers-Danlos syndromes. 单基因Ehlers-Danlos综合征的非基因诊断研究。
IF 1.1 4区 生物学
Medizinische Genetik
Pub Date : 2024-12-03 eCollection Date: 2024-12-01 DOI: 10.1515/medgen-2024-2062
Fleur S van Dijk, Chloe Angwin, Neeti Ghali, Johannes Zschocke, Bart Wagner

With increased application of Next Generation Sequencing (NGS) in the diagnosis of monogenic Ehlers-Danlos syndromes, there is an increased probability to identify variants of unknown significance. Additionally, in some cases no genetic alteration may be identified whilst there is a strong clinical suspicion on a monogenic EDS type. The diagnostic value of non-genetic investigations, which prior to NGS were quite commonly used to support the clinical diagnosis of monogenic EDS types, is explored. In addition, new structural/functional investigations that could deliver evidence towards pathogenicity are discussed. It appears that certain functional and/or structural investigations used frequently in the past can remain helpful and can provide additional evidence that may confirm a clinical diagnosis of a monogenic EDS type. However, there is a need for the development of novel structural/functional studies for monogenic types of EDS. The level of evidence of such studies for application in the established diagnostic DNA variant classification criteria remains to be determined.

随着下一代测序（NGS）在单基因Ehlers-Danlos综合征诊断中的应用增加，发现未知意义变异的可能性增加。此外，在某些情况下，没有基因改变可能被确定，但有强烈的临床怀疑是单基因EDS型。在NGS之前，非遗传调查通常用于支持单基因EDS类型的临床诊断，探讨了非遗传调查的诊断价值。此外，还讨论了新的结构/功能研究，可以为致病性提供证据。过去经常使用的某些功能和/或结构检查似乎仍然有帮助，并且可以提供额外的证据来确认单基因EDS型的临床诊断。然而，需要对单基因型EDS进行新的结构/功能研究。这些研究应用于已建立的诊断性DNA变异分类标准的证据水平仍有待确定。
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引用次数: 0
Reproduction, genetics, and health - a topic with implications far beyond infertility. 生殖、遗传和健康--这个话题的影响远远超出了不孕不育。
IF 1.1 4区 生物学
Medizinische Genetik
Pub Date : 2024-09-06 eCollection Date: 2024-09-01 DOI: 10.1515/medgen-2024-2037
Margot J Wyrwoll, Frank Tüttelmann
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引用次数: 0
Umsetzung der In-vitro-Diagnostik Verordnung (IVDR) in medizinischen Diagnostik-Einrichtungen: Dringende Maßnahmen zur Entlastung sind notwendig, um die in-vitro Diagnostik aufrecht zu erhalten: Gemeinsame Stellungnahme von BVDH, GfH, BDP, DGP, BDL, ALM und SpiFa. 在医疗诊断机构实施体外诊断条例（IVDR）：必须采取紧急措施减轻负担，以维持体外诊断：BVDH、GfH、BDP、DGP、BDL、ALM 和 SpiFa 的联合声明。
IF 1.1 4区 生物学
Medizinische Genetik
Pub Date : 2024-09-06 eCollection Date: 2024-09-01 DOI: 10.1515/medgen-2024-2042
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引用次数: 0
Protokoll der 36. ordentlichen Mitgliederversammlung der Deutschen Gesellschaft für Humangenetik am 02.06.2024 anlässlich der ESHG-Jahrestagung vom 01.–04. Juni 2024 in Berlin. 2024 年 6 月 2 日德国人类遗传学会第 36 届例行大会会议记录，2024 年 6 月 1 日至 4 日在柏林举行德国人类遗传学会年会。
IF 1.1 4区 生物学
Medizinische Genetik
Pub Date : 2024-09-06 eCollection Date: 2024-09-01 DOI: 10.1515/medgen-2024-2039
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引用次数: 0
10 Years of International Albinism Awareness: United Nations celebrate an anniversary and a decade of collective progress, but challenges remain. 国际白化病意识十年：联合国庆祝国际白化病宣传十年周年纪念和集体进步，但挑战依然存在。
IF 1.1 4区 生物学
Medizinische Genetik
Pub Date : 2024-09-06 eCollection Date: 2024-09-01 DOI: 10.1515/medgen-2024-2032
Gudrun A Rappold
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引用次数: 0
Nicht-invasiver Pränataltest (NIPT): Aktuelle gesundheitspolitische Initiativen und inhaltliche Missverständnisse. 无创产前检测（NIPT）：当前的卫生政策措施和误解。
IF 1.1 4区 生物学
Medizinische Genetik
Pub Date : 2024-09-06 eCollection Date: 2024-09-01 DOI: 10.1515/medgen-2024-2043
Bernd Eiben, Ralf Glaubitz, Peter Kozlowsk, Gudrun Göhring, Jörg Schmidtke, Michael Krawczak
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引用次数: 0
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