Medizinische Genetik最新文献

筛选
英文 中文
Erratum zu: Über die Notwendigkeit der Anerkennung von sog. Kernberufsgruppen innerhalb der genetischen Gesundheitsversorgung in Europa. 祖:论承认所谓欧洲基因医疗保健的核心职业群体
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2022-06-04 eCollection Date: 2022-06-01 DOI: 10.1515/medgen-2022-2122
Milena Paneque, Clara Serra Juhé, Bela Melegh, Isabel Carreira, Ute Moog, Thomas Liehr
{"title":"Erratum zu: Über die Notwendigkeit der Anerkennung von sog. Kernberufsgruppen innerhalb der genetischen Gesundheitsversorgung in Europa.","authors":"Milena Paneque, Clara Serra Juhé, Bela Melegh, Isabel Carreira, Ute Moog, Thomas Liehr","doi":"10.1515/medgen-2022-2122","DOIUrl":"10.1515/medgen-2022-2122","url":null,"abstract":"<p><p>[This corrects the article DOI: 10.1515/medgen-2022-2116.].</p>","PeriodicalId":48632,"journal":{"name":"Medizinische Genetik","volume":"34 1","pages":"189-191"},"PeriodicalIF":1.1,"publicationDate":"2022-06-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11006359/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48802337","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
Legal aspects of newborn screening. 新生儿筛查的法律问题
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2022-05-07 eCollection Date: 2022-04-01 DOI: 10.1515/medgen-2022-2110
Henning Rosenau, Felicia Steffen
{"title":"Legal aspects of newborn screening.","authors":"Henning Rosenau, Felicia Steffen","doi":"10.1515/medgen-2022-2110","DOIUrl":"10.1515/medgen-2022-2110","url":null,"abstract":"<p><p>Newborn screening is used for the early detection of diseases in newborns and enables rapid intervention to prevent serious consequences, including infant death. Since the Genetic Diagnostics Act came into force in 2010, the rules of the Act have applied to newborn screening. Over the years since the Act came into force, some legal issues have been resolved, but new legal aspects have also arisen for which the Act does not yet provide a solution.</p>","PeriodicalId":48632,"journal":{"name":"Medizinische Genetik","volume":"34 1","pages":"3-11"},"PeriodicalIF":1.1,"publicationDate":"2022-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11006358/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42434754","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
Second-tier strategies in newborn screening - potential and limitations. 新生儿筛查的二级策略——潜力和局限性
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2022-05-07 eCollection Date: 2022-04-01 DOI: 10.1515/medgen-2022-2117
Gwendolyn Gramer, Georg F Hoffmann
{"title":"Second-tier strategies in newborn screening - potential and limitations.","authors":"Gwendolyn Gramer, Georg F Hoffmann","doi":"10.1515/medgen-2022-2117","DOIUrl":"10.1515/medgen-2022-2117","url":null,"abstract":"<p><p>Newborn screening (NBS) is a public health measure to identify children with treatable disorders within the first days of life allowing presymptomatic treatment. It is the most successful measure of secondary medical prevention and part of public health programs in many countries worldwide. Application of second-tier strategies in NBS allows for increased specificity and consecutively a higher positive predictive value. Second-tier strategies can include analysis of specific biomarkers for a target disorder or may be based on molecular genetic analyses. Improving the quality of NBS, for example by second-tier strategies, is of utmost importance to maintain the high acceptance of NBS by families - especially as an increasing number of target disorders is being consecutively included into NBS programs.</p>","PeriodicalId":48632,"journal":{"name":"Medizinische Genetik","volume":"34 1","pages":"21-28"},"PeriodicalIF":1.1,"publicationDate":"2022-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11006380/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44715216","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
Twenty years of newborn screening for congenital adrenal hyperplasia and congenital primary hypothyroidism - experiences from the DGKED/AQUAPE study group for quality improvement in Germany. 二十年先天性肾上腺增生症和先天性原发性甲状腺功能减退症的新生儿筛查——来自德国DGKED/AQUAPE研究组的质量改进经验
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2022-05-07 eCollection Date: 2022-04-01 DOI: 10.1515/medgen-2022-2114
Johanna Hammersen, Markus Bettendorf, Walter Bonfig, Eckhard Schönau, Katharina Warncke, Alexander J Eckert, Susanne Fricke-Otto, Katja Palm, Reinhard W Holl, Joachim Woelfle
{"title":"Twenty years of newborn screening for congenital adrenal hyperplasia and congenital primary hypothyroidism - experiences from the DGKED/AQUAPE study group for quality improvement in Germany.","authors":"Johanna Hammersen, Markus Bettendorf, Walter Bonfig, Eckhard Schönau, Katharina Warncke, Alexander J Eckert, Susanne Fricke-Otto, Katja Palm, Reinhard W Holl, Joachim Woelfle","doi":"10.1515/medgen-2022-2114","DOIUrl":"10.1515/medgen-2022-2114","url":null,"abstract":"<p><p>Congenital primary hypothyroidism (CH) and congenital adrenal hyperplasia (CAH) are targeted by the German and Austrian newborn screening. For both diseases, there are registries for quality improvement, based on standardized observational data from long-term patient follow-up, under the auspices of the DGKED study group. By September 2021, the CH registry HypoDOK includes datasets from 23,348 visits of 1,840 patients, and the CAH registry contains datasets from 36,237 visits of 1,976 patients. Here, we report on the recruitment process, patient characteristics, and research contributions from the registries, and underline that the registries are an important tool to improve patient care and outcomes. Registries for rare conditions should thus be considered as an important public health measure and they should be adequately institutionalized and funded.</p>","PeriodicalId":48632,"journal":{"name":"Medizinische Genetik","volume":"34 1","pages":"29-40"},"PeriodicalIF":1.1,"publicationDate":"2022-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11007626/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45787249","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
From newborn screening to genomic medicine: challenges and suggestions on how to incorporate genomic newborn screening in public health programs. 从新生儿筛查到基因组医学:如何将新生儿基因组筛查纳入公共卫生计划的挑战和建议
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2022-05-07 eCollection Date: 2022-04-01 DOI: 10.1515/medgen-2022-2113
Nicola Dikow, Beate Ditzen, Stefan Kölker, Georg F Hoffmann, Christian P Schaaf
{"title":"From newborn screening to genomic medicine: challenges and suggestions on how to incorporate genomic newborn screening in public health programs.","authors":"Nicola Dikow, Beate Ditzen, Stefan Kölker, Georg F Hoffmann, Christian P Schaaf","doi":"10.1515/medgen-2022-2113","DOIUrl":"10.1515/medgen-2022-2113","url":null,"abstract":"<p><p>Newborn screening (NBS) programs are considered among the most effective and efficient measures of secondary prevention in medicine. In individuals with medical conditions, genomic sequencing has become available in routine healthcare, and results from exome or genome sequencing may help to guide treatment decisions. Genomic sequencing in healthy or asymptomatic newborns (gNBS) is feasible and reveals clinically relevant disorders that are not detectable by biochemical analyses alone. However, the implementation of genomic sequencing in population-based screening programs comes with technological, clinical, ethical, and psychological issues, as well as economic and legal topics. Here, we address and discuss the most important questions to be considered when implementing gNBS, such as \"which categories of results should be reported\" or \"which is the best time to return results\". We also offer ideas on how to balance expected benefits against possible harms to children and their families.</p>","PeriodicalId":48632,"journal":{"name":"Medizinische Genetik","volume":"34 1","pages":"13-20"},"PeriodicalIF":1.1,"publicationDate":"2022-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11006367/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48428485","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
Über die Notwendigkeit der Anerkennung von sog. Kernberufsgruppen innerhalb der genetischen Gesundheitsversorgung in Europa. 关于承认所谓欧洲基因医疗保健的核心职业群体
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2022-05-07 eCollection Date: 2022-04-01 DOI: 10.1515/medgen-2022-2116
Milena Paneque, Clara Serra Juhé, Bela Melegh, Isabel Carreira, Ute Moog, Thomas Liehr
{"title":"Über die Notwendigkeit der Anerkennung von sog. Kernberufsgruppen innerhalb der genetischen Gesundheitsversorgung in Europa.","authors":"Milena Paneque, Clara Serra Juhé, Bela Melegh, Isabel Carreira, Ute Moog, Thomas Liehr","doi":"10.1515/medgen-2022-2116","DOIUrl":"10.1515/medgen-2022-2116","url":null,"abstract":"","PeriodicalId":48632,"journal":{"name":"Medizinische Genetik","volume":"34 1","pages":"81-83"},"PeriodicalIF":1.1,"publicationDate":"2022-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11006253/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48152622","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
Newborn screening in Germany. 德国新生儿筛查
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2022-05-07 eCollection Date: 2022-04-01 DOI: 10.1515/medgen-2022-2119
Holger Tönnies, Uta Nennstiel
{"title":"Newborn screening in Germany.","authors":"Holger Tönnies, Uta Nennstiel","doi":"10.1515/medgen-2022-2119","DOIUrl":"10.1515/medgen-2022-2119","url":null,"abstract":"","PeriodicalId":48632,"journal":{"name":"Medizinische Genetik","volume":"34 1","pages":"1-2"},"PeriodicalIF":1.1,"publicationDate":"2022-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11006363/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44311434","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
Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS): from clinical diagnosis towards genetic testing. 小脑性共济失调、神经病变和前庭反射综合征(CANVAS):从临床诊断到基因检测
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2022-01-12 eCollection Date: 2021-12-01 DOI: 10.1515/medgen-2021-2098
Andreas Thieme, Christel Depienne, Dagmar Timmann
{"title":"Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS): from clinical diagnosis towards genetic testing.","authors":"Andreas Thieme, Christel Depienne, Dagmar Timmann","doi":"10.1515/medgen-2021-2098","DOIUrl":"10.1515/medgen-2021-2098","url":null,"abstract":"<p><p>The cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) is a late-onset and recessively inherited ataxia. For many years, CANVAS has been diagnosed based on the clinical phenotype. Only recently, a large biallelic pentanucleotide repeat expansion in the replication factor C subunit 1 (<i>RFC1</i>) gene has been identified as the underlying genetic cause for the large majority of CANVAS cases. Subsequently, other phenotypes such as ataxia with chronic cough, incomplete CANVAS and MSA-C-like phenotypes have been associated with biallelic <i>RFC1</i> repeat expansions. Because of this heterogeneity it has been suggested to change the name of the disease to \"RFC1 disease\". Chronic cough is characteristic and can precede neurological symptoms by years or decades. In the neurological examination signs of cerebellar, sensory, and vestibular ataxia are frequently observed. Nerve conduction studies usually show absent or markedly reduced sensory nerve action potentials. On brain MRI cerebellar degeneration and spinal cord alterations are common. In later disease stages more widespread neurodegeneration with additional involvement of the brainstem and basal ganglia is possible. As yet, the exact incidence of <i>RFC1</i>-associated neurological diseases remains uncertain although first studies suggest that <i>RFC1</i>-related ataxia is common. Moreover, the pathophysiological mechanisms caused by the large biallelic pentanucleotide repeat expansions in <i>RFC1</i> remain elusive. Future molecular and genetic research as well as natural history studies are highly desirable to pave the way towards personalized treatment approaches.</p>","PeriodicalId":48632,"journal":{"name":"Medizinische Genetik","volume":"33 1","pages":"301-310"},"PeriodicalIF":1.1,"publicationDate":"2022-01-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11006361/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46992631","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
Huntington disease update: new insights into the role of repeat instability in disease pathogenesis. 亨廷顿舞蹈症最新进展:重复不稳定性在疾病发病机制中作用的新见解
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2022-01-12 eCollection Date: 2021-12-01 DOI: 10.1515/medgen-2021-2101
Larissa Arning, Huu Phuc Nguyen
{"title":"Huntington disease update: new insights into the role of repeat instability in disease pathogenesis.","authors":"Larissa Arning, Huu Phuc Nguyen","doi":"10.1515/medgen-2021-2101","DOIUrl":"10.1515/medgen-2021-2101","url":null,"abstract":"<p><p>The causative mutation for Huntington disease (HD), an expanded trinucleotide repeat sequence in the first exon of the huntingtin gene (<i>HTT</i>) is naturally polymorphic and inevitably associated with disease symptoms above 39 CAG repeats. Although symptomatic medical therapies for HD can improve the motor and non-motor symptoms for affected patients, these drugs do not stop the ongoing neurodegeneration and progression of the disease, which results in severe motor and cognitive disability and death. To date, there is still an urgent need for the development of effective disease-modifying therapies to slow or even stop the progression of HD. The increasing ability to intervene directly at the roots of the disease, namely <i>HTT</i> transcription and translation of its mRNA, makes it necessary to understand the pathogenesis of HD as precisely as possible. In addition to the long-postulated toxicity of the polyglutamine-expanded mutant HTT protein, there is increasing evidence that the CAG repeat-containing RNA might also be directly involved in toxicity. Recent studies have identified <i>cis</i>- (DNA repair genes) and <i>trans</i>- (loss/duplication of CAA interruption) acting variants as major modifiers of age at onset (AO) and disease progression. More and more extensive data indicate that somatic instability functions as a driver for AO as well as disease progression and severity, not only in HD but also in other polyglutamine diseases. Thus, somatic expansions of repetitive DNA sequences may be essential to promote respective repeat lengths to reach a threshold leading to the overt neurodegenerative symptoms of trinucleotide diseases. These findings support somatic expansion as a potential therapeutic target in HD and related repeat expansion disorders.</p>","PeriodicalId":48632,"journal":{"name":"Medizinische Genetik","volume":"33 1","pages":"293-300"},"PeriodicalIF":1.1,"publicationDate":"2022-01-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11006308/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42609126","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
Familial adult myoclonic epilepsy (FAME): clinical features, molecular characteristics, pathophysiological aspects and diagnostic work-up. 家族性成人肌阵挛性癫痫(FAME)的临床特征、分子特征、病理生理学和诊断
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2022-01-12 eCollection Date: 2021-12-01 DOI: 10.1515/medgen-2021-2100
Lorenz Peters, Christel Depienne, Stephan Klebe
{"title":"Familial adult myoclonic epilepsy (FAME): clinical features, molecular characteristics, pathophysiological aspects and diagnostic work-up.","authors":"Lorenz Peters, Christel Depienne, Stephan Klebe","doi":"10.1515/medgen-2021-2100","DOIUrl":"10.1515/medgen-2021-2100","url":null,"abstract":"<p><p>Familial adult myoclonic epilepsy (FAME) is a rare autosomal dominant disorder characterized by myoclonus and seizures. The genetic variant underlying FAME is an intronic repeat expansion composed of two different pentamers: an expanded TTTTA, which is the motif originally present at the locus, and an insertion of TTTCA repeats, which is usually located at the 3' end and likely corresponds to the pathogenic part of the expansion. This repeat expansion has been identified so far in six genes located on different chromosomes, which remarkably encode proteins with distinct cellular localizations and functions. Although the exact pathophysiological mechanisms remain to be clarified, it is likely that FAME repeat expansions lead to disease independently of the gene where they occur. We herein review the clinical and molecular characteristics of this singular genetic disorder, which interestingly shares clinical features with other more common neurological disorders whose etiology remains mainly unsolved.</p>","PeriodicalId":48632,"journal":{"name":"Medizinische Genetik","volume":"33 1","pages":"311-318"},"PeriodicalIF":1.1,"publicationDate":"2022-01-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11006339/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47292554","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
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
相关产品
×
本文献相关产品
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信