Deutsches Arzteblatt international最新文献

{"title":"Monogenic Kidney Diseases in Adults With Chronic Kidney Disease (CKD).","authors":"Julian Eble, Anna Köttgen, Ulla T Schultheiß","doi":"10.3238/arztebl.m2024.0120","DOIUrl":"10.3238/arztebl.m2024.0120","url":null,"abstract":"<p><strong>Background: </strong>According to current evidence, every 10th to 11th adult with chronic kidney disease (CKD) has a monogenic disease of the kidney.</p><p><strong>Methods: </strong>This review is based on reported studies in which molecular genetic diagnostic techniques were used to investigate monogenic kidney diseases in adults with CKD. The studies were identified by a selective literature search using predefined criteria.</p><p><strong>Results: </strong>In 12 selected studies, diagnostic variants of 179 different genes were identified in 1467 out of 6607 study participants with CKD (22.2%). More than 60% of these variants affected 8 genes (PKD1, PKD2, COL4A3, COL4A4, COL4A5, UMOD, MUC1, HNF1B). Three diseases are associated with these genes: autosomal dominant polycystic kidney disease (ADPKD), Alport syndrome, and autosomal dominant tubulo-interstitial kidney disease (ADTKD). Physicians treating patients with CKD should be alert to the presence of any red flags, such as onset at a young age, a positive family history, or hematuria of unknown cause. When a genetic etiology is suspected, a specialized work-up is indicated, often including a molecular genetic investigation. A positive genetic finding usually leads to a modification of the patient's specific diagnosis and/or treatment.</p><p><strong>Conclusion: </strong>Awareness of the high prevalence of monogenic kidney diseases in adults with CKD and alertness to their suggestive clinical features are crucial for the timely initiation of targeted diagnostic testing. The molecular genetic identification of these diseases is a prerequisite for appropriate patient management.</p>","PeriodicalId":11258,"journal":{"name":"Deutsches Arzteblatt international","volume":" Forthcoming","pages":"689-695"},"PeriodicalIF":6.5,"publicationDate":"2024-10-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141491270","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":"Clubbing of Fingers and Nails in Primary Hypertrophic Osteoarthropathy Type 1.","authors":"Melissa Pauly, Ulrike Hüffmeier, Matthias Schmitt-Haendle","doi":"10.3238/arztebl.m2024.0083","DOIUrl":"https://doi.org/10.3238/arztebl.m2024.0083","url":null,"abstract":"","PeriodicalId":11258,"journal":{"name":"Deutsches Arzteblatt international","volume":"121 21","pages":"714"},"PeriodicalIF":6.5,"publicationDate":"2024-10-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143001851","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":"Physical Activity-Related Health Competence Among Adults—Findings of the Population-Wide \"German Health Update\" Study (GEDA 2023).","authors":"Susanne Jordan, Olga Maria Domanska, Johannes Carl, Kristin Manz, Maike Buchmann, Anne-Kathrin M Loer, Klaus Pfeifer, Gorden Sudeck","doi":"10.3238/arztebl.m2024.0132m2024.0132","DOIUrl":"https://doi.org/10.3238/arztebl.m2024.0132m2024.0132","url":null,"abstract":"","PeriodicalId":11258,"journal":{"name":"Deutsches Arzteblatt international","volume":"121 21","pages":"710-711"},"PeriodicalIF":6.5,"publicationDate":"2024-10-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143001857","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":"Megalencephalic Leukoencephalopathy With Subcortical Cysts in an Adult.","authors":"Andreas Joachim Bartsch, Marjo van der Knaap","doi":"10.3238/arztebl.m2024.0086","DOIUrl":"https://doi.org/10.3238/arztebl.m2024.0086","url":null,"abstract":"","PeriodicalId":11258,"journal":{"name":"Deutsches Arzteblatt international","volume":"121 21","pages":"702"},"PeriodicalIF":6.5,"publicationDate":"2024-10-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143001856","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":"Continuous or Interrupted Suture for Hepaticojejunostomy in Pancreaticoduodenectomy (The HEKTIK Trial): Findings of a Randomized, Controlled, Single-Center Superiority Trial.","authors":"Maximilian Brunner, Henriette Golcher, Christian Krautz, Stephan Kersting, Georg F Weber, Robert Grützmann","doi":"10.3238/arztebl.m2024.0178","DOIUrl":"10.3238/arztebl.m2024.0178","url":null,"abstract":"<p><strong>Background: </strong>Over 6000 pancreaticoduodenectomies are per - formed each year in Germany, and hepaticojejunostomy is a crucial step of the procedure. An anastomotic leak of hepaticojejunostomy can cause major postoperative complications. The aim of this trial was to compare the morbidity and efficiency of continuous versus interrupted suturing for hepaticojejunostomy in pancreaticoduo - denectomy.</p><p><strong>Methods: </strong>In a randomized, controlled, single-center trial (German Clinical Trials Register No. DRKS00024395), patients scheduled for elective open partial pancreaticoduodenectomy with hepaticoje - junostomy between January 2020 and May 2023 were randomly assigned in a 1:1 ratio to suturing of the hepaticojejunostomy with either a continuous or an interrupted technique. The primary endpoint was anastomotic leakage from the hepaticojejunostomy in the first three days after surgery. Further perioperative parameters were secondary endpoints, including later leakage, other complications, the duration of hepaticojejunostomy, and the cost of hepaticojejunostomy.</p><p><strong>Results: </strong>The 100 patients in the trial consisted of 50 in each group. The rate of early anastomotic leakage was 2% in both groups (95% confidence interval for the difference, [-5.5%; 5.5%]; p = 1.000). As for the secondary endpoints, there were no relevant intergroup differences in any other short-term or long-term morbidity parameters. Continuous suturing of the hepaticojejunostomy was, however, 31% faster and 68% cheaper in material costs.</p><p><strong>Conclusion: </strong>These data imply that continuous and interrupted suturing techniques yield equally good clinical outcomes in hepaticojejunostomies of hepatic ducts with diameter 5 mm or more. Continuous suturing is, however, both faster and cheaper.</p>","PeriodicalId":11258,"journal":{"name":"Deutsches Arzteblatt international","volume":" Forthcoming","pages":"696-702"},"PeriodicalIF":6.5,"publicationDate":"2024-10-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142343495","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":"Fever, Rash and Headache After Traveling to Thailand.","authors":"Sören L Becker, Sophie Schneitler, Martin Gabriel","doi":"10.3238/arztebl.m2024.0090","DOIUrl":"https://doi.org/10.3238/arztebl.m2024.0090","url":null,"abstract":"","PeriodicalId":11258,"journal":{"name":"Deutsches Arzteblatt international","volume":"121 20","pages":"688"},"PeriodicalIF":6.5,"publicationDate":"2024-10-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142969841","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":"Shark Fin Sign on a 12-Lead ECG.","authors":"Sascha Macherey-Meyer, Johannes Terporten, Christoph Adler","doi":"10.3238/arztebl.m2024.0089","DOIUrl":"https://doi.org/10.3238/arztebl.m2024.0089","url":null,"abstract":"","PeriodicalId":11258,"journal":{"name":"Deutsches Arzteblatt international","volume":"121 20","pages":"680"},"PeriodicalIF":6.5,"publicationDate":"2024-10-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142969983","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":"Idiopathic Craniocervical Hyperpneumatization with Pneumorrhachis.","authors":"Yama Afghanyar, Tobias Jorg, Frank Traub","doi":"10.3238/arztebl.m2024.0100","DOIUrl":"10.3238/arztebl.m2024.0100","url":null,"abstract":"","PeriodicalId":11258,"journal":{"name":"Deutsches Arzteblatt international","volume":"121 20","pages":"688"},"PeriodicalIF":6.5,"publicationDate":"2024-10-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142969812","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":"Invasive Group A Streptococcal Infections in Europe After the COVID-19 Pandemic.","authors":"Eva Goldberg-Bockhorn, Benjamin Hagemann, Martina Furitsch, Thomas K Hoffmann","doi":"10.3238/arztebl.m2024.0127","DOIUrl":"10.3238/arztebl.m2024.0127","url":null,"abstract":"<p><strong>Background: </strong>The incidence of airborne respiratory infections fell as a result of the protective measures taken during the COVID-19 pandemic and rose again when these were stopped. In 2022, there was a notable rise in invasive group A streptococcal (iGAS) infections in many countries, including Germany. This rise was also reflected in the data of the university otorhinolaryngology department in Ulm, Germany.</p><p><strong>Methods: </strong>This review is based on publications retrieved by a selective literature search on the rise of iGAS infections in Europe, with particular attention to the timing of disease onset, clinical presentation, pathogenic strains, and potential causes and risk factors.</p><p><strong>Results: </strong>The rise in infections after the pandemic was especially marked among children up to age 10 and in older adults; in Germany, it affected all age groups equally, but predominantly persons older than 65. Rising prevalence figures were seen in Germany and elsewhere as early as the fall of 2022, outside the usual season, and peaked mainly in the first and second quarters of 2023. The increased incidence of iGAS-associated pneumonia was paralleled by that of viral airway infections and led to greater use of intensivecare measures for children. The main bacterial strain identified was emm1; a new variant (M1DK) played a role in Denmark, and an emm4 variant (M4NL22) became increasingly important in the Netherlands. In Germany, initial evidence suggested the predominance of M1UK. Increased antibiotic resistance was not found.</p><p><strong>Conclusion: </strong>The reduced confrontation of the immune system with pathogens during the pandemic, along with the increased incidence of viral airway infections immediately after it, apparently accounted for the exceptionally high post-pandemic rise in iGAS infections and the increase in invasive pulmonary diseases in Europe. Consistent vaccination programs against coincident respiratory viruses could reduce the burden of iGAS infections. The further extension of multinational surveillance programs with obligatory participation could aid in the detection of factors affecting the course of disease and the spread of new bacterial strains.</p>","PeriodicalId":11258,"journal":{"name":"Deutsches Arzteblatt international","volume":" Forthcoming","pages":"673-680"},"PeriodicalIF":6.5,"publicationDate":"2024-10-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141497422","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":"Clinical Practice Guideline: Recommendations for the Perioperative Management of Pancreatic and Colorectal Cancer Patients.","authors":"Tim O Vilz, Stefan Post, Thomas Langer, Markus Follmann, Monika Nothacker, Maria A Willis","doi":"10.3238/arztebl.m2024.0172","DOIUrl":"10.3238/arztebl.m2024.0172","url":null,"abstract":"<p><strong>Background: </strong>Colorectal and pancreatic carcinoma are the most common cancers of the gastrointestinal tract. Their surgical treatment carries a high morbidity: complications arise in 25% to 30% of cases, often prolonging recovery times and delaying the initiation of adjuvant therapy, leading, in turn, to worse oncological outcomes. The goal of multimodal perioperative management (mPOM) is to lower the postoperative complication rate through a combination of perioperative measures.</p><p><strong>Methods: </strong>This guideline on the perioperative management of gastrointestinal tumors (POMGAT) meets all requirements for an S3 guideline as specified by the Association of the Scientific Medical Societies in Germany (Arbeitsgemeinschaft der Wissenschaftlichen Medizinischen Fachgesellschaften, AWMF). These include a systematic literature search, quality assessment of the included publications, an evaluation of the reliability of the evidence according to the GRADE approach, and a structured consensus process.</p><p><strong>Results: </strong>Meta-analyses have shown that mPOM lowers the complication rates of both pancreatic and colorectal resections (RD 0.96 with 95% confidence interval [0.92; 0.99] and RR 0.66 [0.54; 0.80], respectively). This shortens the hospital stay after pancreatic resections by a median of 2.33 days [-2.98; -1.69] and after colorectal resections by a median of 2.59 days [-3.22; -1.97].</p><p><strong>Conclusion: </strong>Adherence to the POMGAT-S3 guideline for pancreatic and colorectal cancer surgery is associated with improved recovery, which can lead to a faster return to intended oncological treatment (RIOT) and thus to better long-term outcomes. These recommendations are not restricted to gastrointestinal cancer surgery; they can also be applied to visceral surgery for benign conditions, as well as to gynecological and urological operations.</p>","PeriodicalId":11258,"journal":{"name":"Deutsches Arzteblatt international","volume":" Forthcoming","pages":"681-687"},"PeriodicalIF":6.5,"publicationDate":"2024-10-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142072331","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}