Medizinische Genetik最新文献_第9页

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

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

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

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":"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.","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":"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.","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

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

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":"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 (RFC1) 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 RFC1 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 RFC1-associated neurological diseases remains uncertain although first studies suggest that RFC1-related ataxia is common. Moreover, the pathophysiological mechanisms caused by the large biallelic pentanucleotide repeat expansions in RFC1 remain elusive. Future molecular and genetic research as well as natural history studies are highly desirable to pave the way towards personalized treatment approaches.","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":"The causative mutation for Huntington disease (HD), an expanded trinucleotide repeat sequence in the first exon of the huntingtin gene (HTT) 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 HTT 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 cis- (DNA repair genes) and trans- (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.","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

引用次数: 0