Deutsches Arzteblatt international最新文献

{"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":"<p><strong>Background: </strong>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.</p><p><strong>Methods: </strong>This review article is based on pertinent publications retrieved by a selective literature search.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusion: </strong>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.</p>","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}

{"title":"Delayed Gastric Emptying Under Treatment with GLP-1 Agonists.","authors":"Monika Rau, Alexander Meining","doi":"10.3238/arztebl.m2024.0233","DOIUrl":"https://doi.org/10.3238/arztebl.m2024.0233","url":null,"abstract":"","PeriodicalId":11258,"journal":{"name":"Deutsches Arzteblatt international","volume":"122 3","pages":"70"},"PeriodicalIF":6.5,"publicationDate":"2025-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143794576","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}

{"title":"Age-Adapted Diagnostic Evaluation and Treatment of Patients With Type 1 Neurofibromatosis in Germany.","authors":"Said Farschtschi, Pia Vaassen, Lan Kluwe, Tabea Hartung, Johannes Salamon, Thorsten Rosenbaum","doi":"10.3238/arztebl.m2024.0257","DOIUrl":"10.3238/arztebl.m2024.0257","url":null,"abstract":"<p><strong>Background: </strong>Neurofibromatosis type 1 (NF1) is a rare genetic disorder affecting multiple bodily systems that predisposes to the development of tumors. It affects approximately 1 in 3000 newborns in Germany. Its clinical manifestations are diverse and complex, and its diagnostic and therapeutic management call for specialized knowledge and experience. The lack of nationwide guidelines and recommendations further increases the difficulty of establishing an appropriate standardized and interdisciplinary approach.</p><p><strong>Methods: </strong>The suggestions presented here are based on a selective literature review, international guidelines, and our own clinical experience over many years.</p><p><strong>Results: </strong>We propose an age-adapted diagnostic and therapeutic approach to patients with NF1, subdivided into four main areas. We suggest follow-up examinations every one to two years to address typical course of the disease as well as administrative aspects, such as care by pediatricians. Whole-body magnetic resonance imaging (MRI) should be performed when the diagnosis is made. MRI and ultrasonography of particular body regions should be performed where appropriate. The NF1 gene should be sequenced to determine the causative pathogenic variant and as an aid to genetic counseling. If this fails to reveal a pathogenic variant, the NF1 gene should also be sequenced in tumor tissue. The vitamin D3 and sex hormone status are also relevant, as are serum metanephrines. Further specialist consultations may be necessary, and their findings should be discussed in an interdisciplinary framework.</p><p><strong>Conclusion: </strong>These recommendations are intended to serve as a guide to a standardized interdisciplinary approach to the management of patients with NF1 in Germany, based on an up-to-date scientific understanding of the disease. This approach should improve care overall, both by enabling better care and by eliminating unnecessary diagnostic studies.</p>","PeriodicalId":11258,"journal":{"name":"Deutsches Arzteblatt international","volume":" Forthcoming","pages":"71-76"},"PeriodicalIF":6.5,"publicationDate":"2025-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142946375","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}

{"title":"Online Radiotherapy: The Paradigm Shift to Real-Time Adaptive Radiotherapy.","authors":"Goda Kalinauskaite, Konstantin Nikolaou, Andrea Wittig, Daniel Zips, Klaus Zöphel, Carolin Senger","doi":"10.3238/arztebl.m2024.0242","DOIUrl":"10.3238/arztebl.m2024.0242","url":null,"abstract":"<p><strong>Background: </strong>Adaptive radiotherapy (ART) involves the continuous adaptation of the radiation plan according to patient- and tumorspecific feedback. In online ART, the plan is optimized in real time during the treatment; in offline ART, the plan is recalculated between treatment sessions. Hybrid linear accelerators with integrated CT, MRI, or PET are required to perform online ART.</p><p><strong>Methods: </strong>This review is based on clinically relevant studies on online ART (January 2019 - May 2024) that were retrieved by a selective search in PubMed.</p><p><strong>Results: </strong>Online ART is a new technique for which no phase 3 trials have been published; in contrast, multiple randomized trials are already available for offline ART. The initial findings of a random - ized phase 2 trial of online ART for head and neck cancer showed lower rates of G2 or higher radiation-induced dermatitis (8% vs. 31%, p = 0.05) and a lower dose to the parotid gland (mean dose: 11.5 Gy vs. 16.0 Gy, p = 0.02) with online ART compared to standard radiochemotherapy. Moreover, observational studies show that online ART is feasible and spares organs at risk in patients with esophageal, pancreatic, rectal, and prostatic cancer. Additionally, online ART can enable simulation-free treatment planning and faster initiation of radiotherapy. It is, however, more demanding of time and resources and more costly than standard radiotherapy, and no studies with long-term clinical endpoints are available to date.</p><p><strong>Conclusion: </strong>Initial studies confirm the feasibility of online ART and arouse the hope that it will enable more precise radiotherapy with less damage to surrounding structures. Phase 3 trials are needed so that the patient groups who stand to benefit most from online ART can be identified.</p>","PeriodicalId":11258,"journal":{"name":"Deutsches Arzteblatt international","volume":" Forthcoming","pages":"59-64"},"PeriodicalIF":6.5,"publicationDate":"2025-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142869410","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}

{"title":"Geographic Atrophy in Age-Related Macular Degeneration.","authors":"Sandra Liakopoulos, Leon von der Emde, Marvin L Biller, Thomas Ach, Frank G Holz","doi":"10.3238/arztebl.m2025.0003","DOIUrl":"10.3238/arztebl.m2025.0003","url":null,"abstract":"<p><strong>Background: </strong>Age-related macular degeneration (AMD), a condition of multifactorial origin, is a major cause of irreversible vision loss in industrialized countries. The dry late stage of the disease, known as geographic atrophy (GA), is characterized by progressive loss of photoreceptor cells and retinal pigment epithelial cells in the central retina. An estimated 300 000 to 550 000 people in Germany suffer from GA.</p><p><strong>Methods: </strong>This review is based on pertinent literature retrieved by a selective search in the PubMed and Web of Science databases.</p><p><strong>Results: </strong>In 2023, the complement inhibitors pegcetacoplan and avacincaptad pegol were approved in the USA for repeated intravitreal injections and thereby became the first drugs ever approved for the treatment of GA. In Europe, the marketing authorization application for both drugs was withdrawn by the manufacturers after a negative judgment was expressed by the European Medicines Agency (EMA) Committee for Medicinal Products for Human Use (CHMP). The EMA stated that the significant slowing of atrophy progression that had been achieved in the approval trials did not lead to any clinically relevant functional benefit for the patients. Further treatment approaches, including gene therapy, are now being studied in clinical trials. There is evidence that micronutrients may slow the progression of atrophy.</p><p><strong>Conclusion: </strong>In Europe at present, there is no approved treatment for GA due to AMD. There is thus a continuing need for preventive and rehabilitative measures such as smoking cessation, a balanced diet, and magnifying visual aids for patients in the advanced stages of the disease.</p>","PeriodicalId":11258,"journal":{"name":"Deutsches Arzteblatt international","volume":" Forthcoming","pages":"82-88"},"PeriodicalIF":6.5,"publicationDate":"2025-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143001892","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}

{"title":"The Effect of Parental Weight and Genetics on the Body Mass Index of Very Low Birth Weight Infants as They Reach School Age.","authors":"Wolfgang Göpel, Carla Lüders, Katharina Heinze, Tanja K Rausch, Ingmar Fortmann, Silke Szymczak, Inke R König, Egbert Herting, Kathrin Hanke","doi":"10.3238/arztebl.m2024.0253","DOIUrl":"10.3238/arztebl.m2024.0253","url":null,"abstract":"<p><strong>Background: </strong>Prematurely born individuals are usually of low or normal weight in childhood; in adulthood, however, their probability of being overweight is twice that of persons born at full term. There is not yet any way to predict the weight development of premature babies.</p><p><strong>Methods: </strong>A polygenic BMI score (BMI = body-mass index), calculated from the often very small individual effects of more than 2 million genetic variants, was recently described for adults. We studied the possible association of this score with the course of BMI in premature babies over time, from infancy up to the age of 10-14 years.</p><p><strong>Results: </strong>508 individuals were included in the study. At the age of 5-7 years, their mean body weight was 18.8 ± 3.3 kg. The difference between the highest and lowest deciles of the polygenic score was 3.3 kg. At age 10-14, the average body weight was 41.3 ± 11.3 kg, and the difference between the highest and lowest deciles had increased to 9.2 kg. In persons with birth weight under the 10th percentile (n = 68), the difference was 19.2 kg (30.9 kg vs. 50.1 kg). The polygenic BMI score was significantly associated with the BMI z-scores of the overall group and the subgroup of growth-retarded children.</p><p><strong>Conclusion: </strong>Extreme values of a polygenic BMI score are strongly associated with the weight development of preterm infants as they develop into children aged 10-14. The large effect size implies that this score may aid in the counseling of prematurely born children and their parents.</p>","PeriodicalId":11258,"journal":{"name":"Deutsches Arzteblatt international","volume":" Forthcoming","pages":"65-70"},"PeriodicalIF":6.5,"publicationDate":"2025-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142946378","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}

{"title":"Thoracic Aortic Aneurysm 40 Years After Tube Graft Repair.","authors":"Julie Cleuziou, Julia Hoffmann, Maria von Stumm","doi":"10.3238/arztebl.m2024.0216","DOIUrl":"https://doi.org/10.3238/arztebl.m2024.0216","url":null,"abstract":"","PeriodicalId":11258,"journal":{"name":"Deutsches Arzteblatt international","volume":"122 3","pages":"81"},"PeriodicalIF":6.5,"publicationDate":"2025-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143794594","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}

{"title":"Stab Wounds at a Maximal-Care Trauma Center—Incidence from 2015 to 2024.","authors":"Marcel Niemann, Alexander Sklavounos, Moritz Mewes, Jerome Weber, Tobias Lindner, Tomasz Dziodzio, Wenzel Schöning, Ulrich Stöckle, Sijia Zhou, Tazio Maleitzke, Vera Jaecker","doi":"10.3238/arztebl.m2024.0235","DOIUrl":"https://doi.org/10.3238/arztebl.m2024.0235","url":null,"abstract":"","PeriodicalId":11258,"journal":{"name":"Deutsches Arzteblatt international","volume":"122 3","pages":"77-78"},"PeriodicalIF":6.5,"publicationDate":"2025-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143794593","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}

{"title":"Knife and Stab Wounds in the University Hospital Schleswig-Holstein: A Retrospective Evaluation of Medical Documentation from the Emergency Department.","authors":"Domagoj Schunk, Lena Unger, Denise Peters, Sascha Thielke, Alina Balandin, Jan-Niclas Kersebaum, Andreas Paech, Andreas Seekamp, Sebastian Wolfrum","doi":"10.3238/arztebl.m2024.0256","DOIUrl":"https://doi.org/10.3238/arztebl.m2024.0256","url":null,"abstract":"","PeriodicalId":11258,"journal":{"name":"Deutsches Arzteblatt international","volume":"122 3","pages":"79-80"},"PeriodicalIF":6.5,"publicationDate":"2025-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143794588","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}

{"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":"<p><strong>Background: </strong>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.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusion: </strong>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.</p>","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}