Deutsches Arzteblatt international最新文献

The Genetics of Female and Male Infertility. 女性和男性不育的遗传学。

IF 6.5 2区医学

Deutsches Arzteblatt international Pub Date : 2025-03-07 DOI: 10.3238/arztebl.m2024.0259

Frank Tüttelmann, Margot Julia Wyrwoll, Johanna Steingröver, Peter Wieacker

{"title":"The Genetics of Female and Male Infertility.","authors":"Frank Tüttelmann, Margot Julia Wyrwoll, Johanna Steingröver, Peter Wieacker","doi":"10.3238/arztebl.m2024.0259","DOIUrl":"10.3238/arztebl.m2024.0259","url":null,"abstract":"Background: An estimated 17% of all couples worldwide are involuntarily childless (infertile). The clinically identifiable causes of infertility can be found in the male or female partner or in both. The molecular pathophysiology of infertility still remains unclear in many cases but is increasingly being revealed by genetic analyses.Methods: This review article is based on pertinent publications retrieved by a selective literature search.Results: The clinical diagnostic evaluation of an infertile couple may yield an indication for genetic analysis. Women with premature ovarian insufficiency should undergo chromosomal analysis and study of the FMR1 gene. If congenital adrenal hyperplasia is suspected, the CYP21A2 gene should be investigated. In men, genetic diagnosis is based primarily on the findings of semen analysis. Klinefelter syndrome and deletions of the Y-chromosomal azoospermia factors may severely limit sperm production. In both male and female partners, the analysis of a gene panel selected on the basis of the individual indication may identify the cause of infertility, e.g., hypogonadotropic hypogonadism, premature ovarian insufficiency, or severe disturbances of spermatogenesis. In some cases, genetic analysis can help determine the likelihood of success of sperm retrieval via testicular biopsy in men, and the potential indication for oocyte cryopreservation in women.Conclusion: Genetic causes, disease patterns, and the related investigations are becoming increasingly important in the diagnostic evaluation of infertile couples and have implications for further treatment, for the children of the affected couple, and for other family members.","PeriodicalId":11258,"journal":{"name":"Deutsches Arzteblatt international","volume":" Forthcoming","pages":""},"PeriodicalIF":6.5,"publicationDate":"2025-03-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143001900","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

The Intrauterine Treatment of Open Spinal Dysraphism. 开放式脊柱发育障碍的宫内治疗。

IF 6.5 2区医学

Deutsches Arzteblatt international Pub Date : 2025-01-24 DOI: 10.3238/arztebl.m2024.0239

Corinna Keil, Benjamin Sass, Maximilian Schulze, Siegmund Köhler, Roland Axt-Fliedner, Ivonne Bedei

{"title":"The Intrauterine Treatment of Open Spinal Dysraphism.","authors":"Corinna Keil, Benjamin Sass, Maximilian Schulze, Siegmund Köhler, Roland Axt-Fliedner, Ivonne Bedei","doi":"10.3238/arztebl.m2024.0239","DOIUrl":"10.3238/arztebl.m2024.0239","url":null,"abstract":"Background: Open spinal dysraphism is a congenital malformation that causes major morbidity. Its consequences include sensory and motor impairment as well as bladder- and bowel dysfunction. It is often also associated with prenatal ventriculomegaly, which, in turn, necessitates postnatal treatment with a ventriculoperitoneal shunt in approximately 80% of cases. Prenatal therapy with coverage of neural tube defect can reduce the shunt rate and preserve motor function. In this review, we describe the different surgical procedures and their outcomes.Methods: This review is based on publications that were retrieved by a selective literature search in the MEDLINE, Web of Science, EMBASE, Scopus, and Cochrane databases, employing pertinent keywords. Studies of all types (except case reports) that were published in English or German in the period 2010-2024 were included.Results: The randomized, controlled MOMS trial showed that intrauterine surgery for defect closure resulted in less progressive neural tissue damage than postnatal surgery and reduced the need for shunting by approximately half (40% vs. 82%). Since the publication of these results, various prenatal surgical procedures have been established, including hysterotomy-assisted, percutaneous fetoscopic, and laparotomy-assisted fetoscopic closure. The individual surgical methods yield comparable results in terms of motor function and shunt rate. A problem with these procedures is that they increase the likelihood of preterm birth, to an extent that varies from one type of procedure to another.Conclusion: Prenatal surgery improves motor function and reduces the shunt rate but long-term outcomes beyond adolescence are still lacking. Transparent and interdisciplinary counseling is essential in prenatal communication to inform parents not only about the potential benefits of this treatment, but also about its limitations and risks.","PeriodicalId":11258,"journal":{"name":"Deutsches Arzteblatt international","volume":" Forthcoming","pages":"33-37"},"PeriodicalIF":6.5,"publicationDate":"2025-01-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142799738","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Lung Transplantation—Indications, Follow-Up Care and Long-Term Results. 肺移植-适应症，随访护理和长期结果。

IF 6.5 2区医学

Deutsches Arzteblatt international Pub Date : 2025-01-24 DOI: 10.3238/arztebl.m2024.0232

Sebastian Michel, Christian Schneider, Fabio Ius, Tobias Welte, Jens Gottlieb, Nikolaus Kneidinger

{"title":"Lung Transplantation—Indications, Follow-Up Care and Long-Term Results.","authors":"Sebastian Michel, Christian Schneider, Fabio Ius, Tobias Welte, Jens Gottlieb, Nikolaus Kneidinger","doi":"10.3238/arztebl.m2024.0232","DOIUrl":"10.3238/arztebl.m2024.0232","url":null,"abstract":"Background: Lung transplantation is the treatment of choice for end-stage nonmalignant lung disease. It has become a routine procedure through advances in donor lung preservation, extracorporeal membrane oxygenation, immunosuppression, intensive care medicine, and follow-up care.Methods: This review is based on publications about lung transplantation that were retrieved by a selective literature search, and on the procedures and experience of two large-volume lung transplantation centers.Results: The mean survival time after lung transplantation is six years, which is the shortest after the transplantation of any solid organ. Chronic graft dysfunction is present in 41% of patients at five years and is the main cause of death after lung transplantation, followed by infection and cancer.Conclusion: Despite all the advances in lung transplantation, acute and-above all-chronic graft dysfunction still pose a major challenge for large-volume transplantation centers. Immunosuppression that is individually tailored to prevent both graft rejection and infection is important for these patients' longterm survival. Xenotransplantation and so-called lung bioengineering may become available in the future as alternatives to allotransplantation.","PeriodicalId":11258,"journal":{"name":"Deutsches Arzteblatt international","volume":" Forthcoming","pages":"43-48"},"PeriodicalIF":6.5,"publicationDate":"2025-01-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142817139","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Body Mass Index and NT-pro-BNP in High-Risk Cardiac Patients.

IF 6.5 2区医学

Deutsches Arzteblatt international Pub Date : 2025-01-24 DOI: 10.3238/arztebl.m2024.0197

Michael Wester, Philipp Hegner, Maria Tafelmeier, Leopold Rupprecht, Christof Schmid, Lars S Maier, Stefan Wagner, Michael Arzt, Simon Lebek

引用次数: 0

Predatory Journals: What Can We Do to Protect Their Prey?

IF 6.5 2区医学

Deutsches Arzteblatt international Pub Date : 2025-01-24 DOI: 10.3238/arztebl.m2024.0263

Christine Laine, Dianne Babski, Vivienne C Bachelet, Till W Bärnighausen, Christopher Baethge, Kirsten Bibbins-Domingo, Frank Frizelle, Laragh Gollogy, Sabine Kleinert, Elizabeth Loder, João Monteiro, Eric J Rubin, Peush Sahni, Christina C Wee, Jin-Hong Yoo, Lilia Zakhama

引用次数: 0

Assessing Medication Self-Management by the Elderly—A Comparison of Subjective and Objective Indicators from the ABLYMED Study.

IF 6.5 2区医学

Deutsches Arzteblatt international Pub Date : 2025-01-24 DOI: 10.3238/arztebl.m2024.0214

Anneke Luegering, Helmut Frohnhofen, Robert Langner, Stefan Wilm, Thorsten R Doeppner, Dirk M Hermann, Joachim Windolf, Janine Gronewold

引用次数: 0

The Genetics of Intelligence. 智力的遗传学。

IF 6.5 2区医学

Deutsches Arzteblatt international Pub Date : 2025-01-24 DOI: 10.3238/arztebl.m2024.0236

André Reis, Frank M Spinath

{"title":"The Genetics of Intelligence.","authors":"André Reis, Frank M Spinath","doi":"10.3238/arztebl.m2024.0236","DOIUrl":"10.3238/arztebl.m2024.0236","url":null,"abstract":"Background: Intelligence is defined as general mental capacity, which includes the abilities to reason, solve new problems, think abstractly, and learn quickly. Genetic factors explain a considerable fraction of inter-individual differences in intelligence. For many years, research on intelligence was limited to estimating the relative importance of genetic and environmental factors, without identifying any individual causal factors.Methods: This review of the literature is based on pertinent original publications and reviews.Results: Genome-wide association studies (GWAS) have shown that certain gene loci are associated with intelligence, as well as with educational attainment, which is known to be correlated with intelligence. As each individual gene locus accounts for only a very small part of the variance in intelligence ( < 0.02%), so-called \"polygenic scores\" (PGS) have been calculated in which thousands of genetic variants are summarized together. On the basis of the largest GWAS performed to date, it is estimated that 7-15% of inter-individual differences in educational attainment and 7-10% in intelligence among persons of European descent can be explained by genetic factors. These genetic effects are partly indirect. At the same time, the relative importance of genetic factors in determining complex features such as intelligence and educational attainment must always be seen against the background of individual environmental conditions. In the presence of difficult social conditions, for example, the influence of genetic factors is typically lower.Conclusion: At present, the polygenic scores generated from genome-wide association studies are primarily of scientific interest, yet they are becoming increasingly informative and valid for individual prediction. There is, therefore, a need for broad social discussion about their future use.","PeriodicalId":11258,"journal":{"name":"Deutsches Arzteblatt international","volume":" Forthcoming","pages":"38-42"},"PeriodicalIF":6.5,"publicationDate":"2025-01-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142784398","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

The Management of Chronic Kidney Disease not Requiring Renal Replacement Therapy in General Practice. 不需要肾脏替代治疗的慢性肾脏疾病的管理。

IF 6.5 2区医学

Deutsches Arzteblatt international Pub Date : 2025-01-24 DOI: 10.3238/arztebl.m2024.0230

Simone Kiel, Martha Negnal, Sylvia Stracke, Susanne Fleig, Martin K Kuhlmann, Jean-François Chenot

{"title":"The Management of Chronic Kidney Disease not Requiring Renal Replacement Therapy in General Practice.","authors":"Simone Kiel, Martha Negnal, Sylvia Stracke, Susanne Fleig, Martin K Kuhlmann, Jean-François Chenot","doi":"10.3238/arztebl.m2024.0230","DOIUrl":"10.3238/arztebl.m2024.0230","url":null,"abstract":"Background: Chronic kidney disease (CKD) is common in the German adult population, with a prevalence of 10%. This guideline, updated on the basis of current scientific evidence, contains recommendations for the management of CKD in general practice.Methods: The updated guideline is based on a review and assessment of source guidelines and systematic reviews concerning individual questions. The recommendations were agreed upon in a moderated two-stage nominal group process by the mandate holders of the participating specialist societies, along with patient representatives.Results: The risk of progression to renal failure requiring renal replacement therapy should be assessed with a risk score. Assessing this risk and determining the indication for treatment with SGLT2 inhibitors both require measurement of the urinary albumin-tocreatinine ratio. Pharmacotherapy is not recommended for asymptomatic hyperuricemia. An initial ultras - onographic examination of the kidneys and urogenital system is now recommended for all patients. The vaccination recommendations that differ for people with CKD have been integrated into the guideline.Conclusion: The risk assessment of CKD and the treatment options have been expanded. The updated guideline can improve primary care for patients with CKD and the selection of patients for interdisciplinary care.","PeriodicalId":11258,"journal":{"name":"Deutsches Arzteblatt international","volume":" Forthcoming","pages":"49-54"},"PeriodicalIF":6.5,"publicationDate":"2025-01-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142817151","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Contacts of Health Care Companies With Guideline Coordinators—A Cross-Sectional Survey.

IF 6.5 2区医学

Deutsches Arzteblatt international Pub Date : 2025-01-10 DOI: 10.3238/arztebl.m2024.0184

Sabine Gehrke-Beck, Karen Krüger, Felix Holzinger, Christoph Heintze, Hendrik Napierala

引用次数: 0

Weaning From Tobacco with Nicotine or Varenicline in Severe and Mild Tobacco Dependence—Findings of a Meta-Analysis. 重度和轻度烟草依赖患者戒除尼古丁或伐尼克兰——一项荟萃分析的结果

IF 6.5 2区医学

Deutsches Arzteblatt international Pub Date : 2025-01-10 DOI: 10.3238/arztebl.m2024.0223

Claudia Selbach, Christian Siebel, Jona Lilienthal, Ulrich Grouven, Marco Knelangen, Sabrina Kastaun, Philip Kranz

{"title":"Weaning From Tobacco with Nicotine or Varenicline in Severe and Mild Tobacco Dependence—Findings of a Meta-Analysis.","authors":"Claudia Selbach, Christian Siebel, Jona Lilienthal, Ulrich Grouven, Marco Knelangen, Sabrina Kastaun, Philip Kranz","doi":"10.3238/arztebl.m2024.0223","DOIUrl":"10.3238/arztebl.m2024.0223","url":null,"abstract":"Background: Systematic reviews have documented the beneficial effects of bupropion, cytisine, nicotine, and varenicline as aids to permanent smoking cessation. We investigated the question whether the effect of treatment depends on the severity of tobacco dependence.Methods: We systematically searched for relevant publications in bibliographic databases and trial registries, made inquiries to manufacturers, and consulted additional sources of information (last search on 1 September 2022). The smokers included in the present study were classified as mildly or severely tobacco-dependent on the basis of their scores on the Fagerström Test for Nicotine Dependence, with variable cut-off values (FTND score 4, 5, or 6). In this meta-analysis, we determined the results with respect to the endpoint of sustained smoking cessation at 6 and 12 months in each of the two subgroups and investigated the heterogeneity between them.Results: No subgroup analyses that could enable us to answer the question posed in this meta-analysis were available for either bupropion or cytisine. Subgroup analyses were available for varenicline in 12 studies, involving a total of 9723 smokers, and for nicotine in 23, involving 15 003 smokers. No statistically significant heterogeneity (p > 0.05) between mildly and severely tobacco-dependent smokers was found for the effect of either drug on the endpoint sustained smoking cessation (at 6 and 12 months), and this was so independently of the FTND cut-off value that was used.Conclusion: The benefit of varenicline and nicotine as aids to smoking cessation is independent of the severity of tobacco dependence.","PeriodicalId":11258,"journal":{"name":"Deutsches Arzteblatt international","volume":" Forthcoming","pages":"7-11"},"PeriodicalIF":6.5,"publicationDate":"2025-01-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142767226","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0