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Medizinische Genetik最新文献

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Verbesserung der interdisziplinären Zusammenarbeit zwischen den Fachgebieten Kinder- und Jugendpsychiatrie, und -psychotherapie sowie Humangenetik - Anregungen aus kinder- und jugendpsychiatrischer Sicht. 改善儿童和青少年精神病学、心理治疗和人类遗传学领域的跨学科合作——从儿童和青少年精神病学的角度提出建议。
IF 1.4 4区 生物学
Medizinische Genetik Pub Date : 2025-02-12 eCollection Date: 2025-04-01 DOI: 10.1515/medgen-2024-2068
Franziska Degenhardt, Annegret Brauer, Sarah Hohmann, Martin Holtmann, Nikolaus Barth, Andreas Richterich, Anna Sotnikova, Ingo Spitczok von Brisinski, Luise Poustka, Michael Siniatchkin, Christine M Freitag, Johannes Hebebrand
{"title":"Verbesserung der interdisziplinären Zusammenarbeit zwischen den Fachgebieten Kinder- und Jugendpsychiatrie, und -psychotherapie sowie Humangenetik - Anregungen aus kinder- und jugendpsychiatrischer Sicht.","authors":"Franziska Degenhardt, Annegret Brauer, Sarah Hohmann, Martin Holtmann, Nikolaus Barth, Andreas Richterich, Anna Sotnikova, Ingo Spitczok von Brisinski, Luise Poustka, Michael Siniatchkin, Christine M Freitag, Johannes Hebebrand","doi":"10.1515/medgen-2024-2068","DOIUrl":"10.1515/medgen-2024-2068","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"37 1","pages":"65-72"},"PeriodicalIF":1.4,"publicationDate":"2025-02-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11812475/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143411519","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
Ankündigung des Syndromtages 2025: 12.-13. September 2025, Essen. 检索日期：2015-12-13。2025年9月，纽约。
IF 1.4 4区 生物学
Medizinische Genetik Pub Date : 2025-02-12 eCollection Date: 2025-04-01 DOI: 10.1515/medgen-2025-2003
{"title":"Ankündigung des Syndromtages 2025: 12.-13. September 2025, Essen.","authors":"","doi":"10.1515/medgen-2025-2003","DOIUrl":"10.1515/medgen-2025-2003","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"37 1","pages":"73"},"PeriodicalIF":1.4,"publicationDate":"2025-02-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11812470/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143411440","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 testing in the genetically complex age-related macular degeneration. 遗传复杂的老年性黄斑变性的诊断试验。
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2025-02-12 eCollection Date: 2025-04-01 DOI: 10.1515/medgen-2024-2064
Christina Kiel, Bernhard H F Weber
{"title":"Diagnostic testing in the genetically complex age-related macular degeneration.","authors":"Christina Kiel, Bernhard H F Weber","doi":"10.1515/medgen-2024-2064","DOIUrl":"10.1515/medgen-2024-2064","url":null,"abstract":"<p><p>Age-related macular degeneration (AMD) is a leading cause of visual impairment with the risk of developing the disease influenced by a combination of genetic and environmental factors. With the recent expansion of treatment options, enhancing diagnostic accuracy and improving access to treatment are increasingly becoming the focus of interest. By using data from genome-wide association studies (GWAS) to generate polygenic risk scores (PRS), an assessment of an individual's genetic risk for AMD is feasible. While the predictive accuracy of the AMD-PRS is most robust for individuals at very high genetic risk, genetic diagnostic testing is warranted due to the large number of affected individuals resulting from the high prevalence of AMD. Early genetic confirmation of AMD-related pathology can facilitate timely treatment initiation, potentially improving patient outcomes.</p>","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"37 1","pages":"27-35"},"PeriodicalIF":1.1,"publicationDate":"2025-02-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11812471/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143411454","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
Jahresberichte 2024 aus den GfH-Kommissionen und GfH-Arbeitskreisen. “2017年GfH委员会和GfH工作组年度报告”。
IF 1.4 4区 生物学
Medizinische Genetik Pub Date : 2025-02-12 eCollection Date: 2025-04-01 DOI: 10.1515/medgen-2025-2002
{"title":"Jahresberichte 2024 aus den GfH-Kommissionen und GfH-Arbeitskreisen.","authors":"","doi":"10.1515/medgen-2025-2002","DOIUrl":"10.1515/medgen-2025-2002","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"37 1","pages":"77-90"},"PeriodicalIF":1.4,"publicationDate":"2025-02-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11812476/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143411472","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
SAVE THE DATE7. GfH-Juniorakademie. 保存日期。GfH-Juniorakademie。
IF 1.4 4区 生物学
Medizinische Genetik Pub Date : 2025-02-12 eCollection Date: 2025-04-01 DOI: 10.1515/medgen-2024-2069
{"title":"SAVE THE DATE7. GfH-Juniorakademie.","authors":"","doi":"10.1515/medgen-2024-2069","DOIUrl":"10.1515/medgen-2024-2069","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"37 1","pages":"75"},"PeriodicalIF":1.4,"publicationDate":"2025-02-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11812472/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143411507","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
Long-term experience with gene augmentation therapy in patients with inherited retinal disease associated with biallelic mutations in RPE65. 基因增强治疗与RPE65双等位基因突变相关的遗传性视网膜疾病患者的长期经验
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2025-02-12 eCollection Date: 2025-04-01 DOI: 10.1515/medgen-2024-2067
Birgit Lorenz
{"title":"Long-term experience with gene augmentation therapy in patients with inherited retinal disease associated with biallelic mutations in <b><i>RPE65</i></b>.","authors":"Birgit Lorenz","doi":"10.1515/medgen-2024-2067","DOIUrl":"10.1515/medgen-2024-2067","url":null,"abstract":"<p><p><i>RPE65</i> biallelic mutation-associated inherited retinal degeneration (IRD) is currently the only IRD for which gene therapy is approved. This narrative review provides a brief overview of the disease and an update of the current literature on outcomes following the approval of treatment with voretigene neparvovec (LuxturnaTM) in 2017 (USA) and Europe (2018). Post-marketing results confirm a significant therapeutic effect of this gene augmentation on rod function similar to that seen in the phase 1 to 3 clinical trials. The full-field chromatic light sensitivity test is an appropriate test to demonstrate early and sustained effects of treatment. Visual acuity and visual fields may improve in less advanced disease. Accelerated chorioretinal atrophy (CRA) is a previously unrecognised adverse effect that is now reported in 13 % to 50 % of treated eyes. If central, visual acuity loss and paracentral visual field defects may occur. Further studies are needed to identify patients at risk of CRA in order to maximize patient benefit from a costly intervention.</p>","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"37 1","pages":"47-56"},"PeriodicalIF":1.1,"publicationDate":"2025-02-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11812477/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143411500","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
Diagnosis of vascular Ehlers Danlos syndrome and management of vascular complications: a vascular surgeons perspective. 血管Ehlers - Danlos综合征的诊断和血管并发症的处理：血管外科医生的观点。
IF 1.4 4区 生物学
Medizinische Genetik Pub Date : 2024-12-03 eCollection Date: 2024-12-01 DOI: 10.1515/medgen-2024-2053
Laura Schönherr, Sabine Wipper, Yskert von Kodolitsch
{"title":"Diagnosis of vascular Ehlers Danlos syndrome and management of vascular complications: a vascular surgeons perspective.","authors":"Laura Schönherr, Sabine Wipper, Yskert von Kodolitsch","doi":"10.1515/medgen-2024-2053","DOIUrl":"10.1515/medgen-2024-2053","url":null,"abstract":"<p><p>The monogenic Ehlers - Danlos syndromes (EDS) constitute a clinically and genetically heterogenous group of connective tissue disorders with overlapping features of generalized joint hypermobility, skin hyperextensibility and tissue fragility. Vascular complications can be observed in several EDS types, but generalized tissue fragility resulting in significant increased risk on vascular events from a young age are a major clinical characteristic of vascular Ehlers - Danlos (vEDS, former Type IV). This is a rare, monogenic EDS type, with a suspected prevalence of 1:50 000. Even though progress regarding awareness and management of vEDS has been made, further studies are needed regarding optimal treatment and follow up. In this manuscript we present the perspective of a vascular surgeon regarding the current literature to management and treatment options for vascular complications in vEDS.</p>","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"36 4","pages":"255-259"},"PeriodicalIF":1.4,"publicationDate":"2024-12-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12308765/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144755079","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
Bern: PD Dr. rer. nat. Anne Gregor Habilitation zum Thema "Modellsysteme für neuronale Entwicklungsstörungen". 柏林：PD博士。安妮·格雷戈尔关于“神经发育障碍的模型系统”的适应。
IF 1.4 4区 生物学
Medizinische Genetik Pub Date : 2024-12-03 eCollection Date: 2024-12-01 DOI: 10.1515/medgen-2024-2045
Anne Gregor
{"title":"Bern: PD Dr. rer. nat. Anne Gregor Habilitation zum Thema \"Modellsysteme für neuronale Entwicklungsstörungen\".","authors":"Anne Gregor","doi":"10.1515/medgen-2024-2045","DOIUrl":"10.1515/medgen-2024-2045","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"36 4","pages":"265"},"PeriodicalIF":1.4,"publicationDate":"2024-12-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11610439/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142774370","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
Tagungsbericht GfH-Juniorakademie 2024: #GfHJAK24 @schlossbuchenau. “2017年GfH-Juniorakademie”（德语）。
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2024-12-03 eCollection Date: 2024-12-01 DOI: 10.1515/medgen-2024-2056
Simone Ahting, Helene Faust, Andreas Forstner, Maike Karnstedt, Maria Korte, Ilona Krey, Robert Meyer, Daniel Pieh, Anna Schaffeldt, Franziska Schnabel
{"title":"Tagungsbericht GfH-Juniorakademie 2024: #GfHJAK24 @schlossbuchenau.","authors":"Simone Ahting, Helene Faust, Andreas Forstner, Maike Karnstedt, Maria Korte, Ilona Krey, Robert Meyer, Daniel Pieh, Anna Schaffeldt, Franziska Schnabel","doi":"10.1515/medgen-2024-2056","DOIUrl":"https://doi.org/10.1515/medgen-2024-2056","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"36 4","pages":"277-280"},"PeriodicalIF":1.1,"publicationDate":"2024-12-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11610437/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142774438","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
Monitoring des nicht-invasiven Pränataltests (NIPT). 非侵入性产前检测（NIPT）。
IF 1.4 4区 生物学
Medizinische Genetik Pub Date : 2024-12-03 eCollection Date: 2024-12-01 DOI: 10.1515/medgen-2024-2052
{"title":"Monitoring des nicht-invasiven Pränataltests (NIPT).","authors":"","doi":"10.1515/medgen-2024-2052","DOIUrl":"10.1515/medgen-2024-2052","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"36 4","pages":"289-290"},"PeriodicalIF":1.4,"publicationDate":"2024-12-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11610438/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142774399","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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