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Medizinische Genetik最新文献

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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
{"title":"Clinical diagnosis of the monogenic Ehlers-Danlos syndromes.","authors":"Fleur S van Dijk, Chloe Angwin, Serwet Demirdas, Neeti Ghali, Johannes Zschocke","doi":"10.1515/medgen-2024-2060","DOIUrl":"10.1515/medgen-2024-2060","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"36 4","pages":"225-234"},"PeriodicalIF":1.1,"publicationDate":"2024-12-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11610443/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142774309","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
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
{"title":"Die neue, mit den Fachgruppen \"konsentierte\" Fassung der GOÄ - eine unendliche Geschichte mit inakzeptablem Ende.","authors":"","doi":"10.1515/medgen-2024-2051","DOIUrl":"https://doi.org/10.1515/medgen-2024-2051","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"36 4","pages":"287"},"PeriodicalIF":1.1,"publicationDate":"2024-12-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11610429/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142774415","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. 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
{"title":"Editorial.","authors":"Johannes Zschocke, Fleur S van Dijk","doi":"10.1515/medgen-2024-2050","DOIUrl":"https://doi.org/10.1515/medgen-2024-2050","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"36 4","pages":"223-224"},"PeriodicalIF":1.1,"publicationDate":"2024-12-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11610433/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142774419","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
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
{"title":"20 Jahre universitäre Humangenetik in Regensburg.","authors":"Bernhard H F Weber","doi":"10.1515/medgen-2024-2046","DOIUrl":"https://doi.org/10.1515/medgen-2024-2046","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"36 4","pages":"261-264"},"PeriodicalIF":1.1,"publicationDate":"2024-12-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11610432/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142774227","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
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
{"title":"Non-genetic diagnostic investigations in monogenic Ehlers-Danlos syndromes.","authors":"Fleur S van Dijk, Chloe Angwin, Neeti Ghali, Johannes Zschocke, Bart Wagner","doi":"10.1515/medgen-2024-2062","DOIUrl":"10.1515/medgen-2024-2062","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"36 4","pages":"247-254"},"PeriodicalIF":1.1,"publicationDate":"2024-12-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11610441/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142774434","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
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
{"title":"Reproduction, genetics, and health - a topic with implications far beyond infertility.","authors":"Margot J Wyrwoll, Frank Tüttelmann","doi":"10.1515/medgen-2024-2037","DOIUrl":"https://doi.org/10.1515/medgen-2024-2037","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"36 3","pages":"159-160"},"PeriodicalIF":1.1,"publicationDate":"2024-09-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11380983/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142300322","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
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
{"title":"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.","authors":"","doi":"10.1515/medgen-2024-2042","DOIUrl":"https://doi.org/10.1515/medgen-2024-2042","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"36 3","pages":"203-206"},"PeriodicalIF":1.1,"publicationDate":"2024-09-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11380985/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142300324","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
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
{"title":"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.","authors":"","doi":"10.1515/medgen-2024-2039","DOIUrl":"https://doi.org/10.1515/medgen-2024-2039","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"36 3","pages":"209-214"},"PeriodicalIF":1.1,"publicationDate":"2024-09-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11381108/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142300320","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
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
{"title":"10 Years of International Albinism Awareness: United Nations celebrate an anniversary and a decade of collective progress, but challenges remain.","authors":"Gudrun A Rappold","doi":"10.1515/medgen-2024-2032","DOIUrl":"https://doi.org/10.1515/medgen-2024-2032","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"36 3","pages":"217-218"},"PeriodicalIF":1.1,"publicationDate":"2024-09-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11381229/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142300313","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
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
{"title":"Nicht-invasiver Pränataltest (NIPT): Aktuelle gesundheitspolitische Initiativen und inhaltliche Missverständnisse.","authors":"Bernd Eiben, Ralf Glaubitz, Peter Kozlowsk, Gudrun Göhring, Jörg Schmidtke, Michael Krawczak","doi":"10.1515/medgen-2024-2043","DOIUrl":"https://doi.org/10.1515/medgen-2024-2043","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"36 3","pages":"189-192"},"PeriodicalIF":1.1,"publicationDate":"2024-09-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11380932/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142300319","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
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