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Vascular Ehlers-Danlos syndrome: A multidisciplinary clinical framework for early suspicion, emergency-safe management and lifelong care. 血管性埃勒-丹洛斯综合征:早期怀疑、紧急安全管理和终身护理的多学科临床框架。
IF 7.6 2区 医学
Journal of Internal Medicine Pub Date : 2026-09-25 DOI: 10.1111/joim.70165
Salvatore Corrao, Maria Irene Ruggeri, Antonino Di Benedetto, Giacomo Corrao, Luigi Calvo, Salvatore Scibetta
{"title":"Vascular Ehlers-Danlos syndrome: A multidisciplinary clinical framework for early suspicion, emergency-safe management and lifelong care.","authors":"Salvatore Corrao, Maria Irene Ruggeri, Antonino Di Benedetto, Giacomo Corrao, Luigi Calvo, Salvatore Scibetta","doi":"10.1111/joim.70165","DOIUrl":"https://doi.org/10.1111/joim.70165","url":null,"abstract":"<p><p>Vascular Ehlers-Danlos syndrome (vEDS), caused by likely pathogenic COL3A1 variants, carries a high risk of arterial dissection or rupture, intestinal perforation and uterine rupture, and a median survival near 51 years. It is often recognized only at a catastrophe, and its acute management is deliberately counter-intuitive. The therapeutic landscape changed in 2025 with the first randomized evidence for an angiotensin-receptor blocker. We provide a clinical, practice-oriented review for internists and the multidisciplinary team. As is appropriate for a rare disease, case-level evidence was considered alongside cohorts and trials. Suspicion is the rate-limiting step, and we set out speciality-specific red flags. Diagnosis requires molecular confirmation, with differentiation from other heritable arteriopathies. Genotype is a probabilistic predisposition, not a deterministic predictor: there is ascertainment bias, reduced penetrance and intrafamilial variability temper inference. Emergency care is harm-avoidant-catheter angiography, elective endoscopy and unnecessary surgery should be avoided, and endovascular and tissue-sparing techniques preferred. Pharmacological prevention rests on celiprolol, with randomized evidence now supporting irbesartan added to background celiprolol, and expert-centred consideration of angiotensin-receptor blockade when celiprolol is not tolerated. Surveillance should be individualized along the European Reference Network on Rare Multisystemic Vascular Diseases logic. Pregnancy, psychosocial care and cascade testing complete lifelong management. In vEDS, earlier recognition and the avoidance of iatrogenic harm-not new molecules-offer the largest near-term gains in survival and quality of life.</p>","PeriodicalId":196,"journal":{"name":"Journal of Internal Medicine","volume":" ","pages":""},"PeriodicalIF":7.6,"publicationDate":"2026-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149056706","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
Routine versus standardized blood pressure measurements: Agreement and association with cardiovascular disease. 常规血压测量与标准化血压测量:与心血管疾病的一致性和相关性
IF 7.6 2区 医学
Journal of Internal Medicine Pub Date : 2026-09-24 DOI: 10.1111/joim.70164
Olivia Gästgivars, Joachim Ögren, Bo Carlberg, Mattias Brunström
{"title":"Routine versus standardized blood pressure measurements: Agreement and association with cardiovascular disease.","authors":"Olivia Gästgivars, Joachim Ögren, Bo Carlberg, Mattias Brunström","doi":"10.1111/joim.70164","DOIUrl":"https://doi.org/10.1111/joim.70164","url":null,"abstract":"<p><strong>Background: </strong>Recommendations for blood pressure (BP) measurement are poorly followed in clinical practice, possibly leading to inaccurate BP estimates.</p><p><strong>Objectives: </strong>To assess the agreement between routine and standardized BPs, and the association between BP level and cardiovascular disease (CVD) for each measurement type.</p><p><strong>Methods: </strong>Standardized BPs were recorded in a screening program for middle-aged people during 1992-2012 in Sweden. Intraindividual differences between standardized BP and routine BP from primary care were calculated. Association between BP level and composite CVD, and population-attributable fraction (PAF) explained by BP, were determined through adjusted Cox regression for each measurement type.</p><p><strong>Results: </strong>In 9567 participants, routine BPs were on average 4.0/1.7 mmHg higher than standardized BPs. Routine measurements frequently misclassified people into higher BP categories; 16% more had hypertension (≥130/80 mmHg), and 50% less had normal BP (<120/80 mmHg), compared with standardized measurements. Analysis of 19,720 participants found a stronger association between BP level and CVD for standardized than for routine measurements, with increased risk from ≥120/80 and ≥140/90 mmHg, respectively. Adjusted hazard ratio for ≥140/90 mmHg compared to <120/80 mmHg was 2.11 (95% confidence interval 1.77-2.51) for standardized BPs and 1.43 (1.15-1.77) for routine BPs. BP ≥120/80 mmHg explained 41.8% (32.0-50.1) of CVD events with standardized measurements and 19.3% (1.5-33.8) with routine measurements.</p><p><strong>Conclusion: </strong>Routine BPs deviate from standardized BPs, resulting in significant misclassification and attenuated association with CVD, reducing the PAF for BP to less than half. Our findings emphasize the need for accurate BP measurement in clinical practice.</p>","PeriodicalId":196,"journal":{"name":"Journal of Internal Medicine","volume":" ","pages":""},"PeriodicalIF":7.6,"publicationDate":"2026-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149029344","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
Cancer co-medication quality in older patients with polypharmacy: A large randomized trial testing a medication review versus usual care. 老年多药患者的癌症联合用药质量:一项大型随机试验,测试药物回顾与常规护理。
IF 7.6 2区 医学
Journal of Internal Medicine Pub Date : 2026-09-23 DOI: 10.1111/joim.70161
Miriam Degen, Annette Kopp-Schneider, Tomislav Vlaski, Sigrid Carlsson, Peter Hallermann, Ludmilla Jewlanowa, Jana Barinoff, Valentin Goede, Christian Lüders, Thomas Kiefer-Trendelenburg, Diana Lüftner, Jasmin Doll, Jürgen Wagner, Birgit Leibbrand, Hermann Brenner, Ben Schöttker
{"title":"Cancer co-medication quality in older patients with polypharmacy: A large randomized trial testing a medication review versus usual care.","authors":"Miriam Degen, Annette Kopp-Schneider, Tomislav Vlaski, Sigrid Carlsson, Peter Hallermann, Ludmilla Jewlanowa, Jana Barinoff, Valentin Goede, Christian Lüders, Thomas Kiefer-Trendelenburg, Diana Lüftner, Jasmin Doll, Jürgen Wagner, Birgit Leibbrand, Hermann Brenner, Ben Schöttker","doi":"10.1111/joim.70161","DOIUrl":"https://doi.org/10.1111/joim.70161","url":null,"abstract":"<p><strong>Background: </strong>Evidence from randomized controlled trials (RCTs) testing medication reviews in geriatric oncology is sparse.</p><p><strong>Methods: </strong>We conducted a single-blinded RCT in ten rehabilitation clinics across Germany. Patients with common cancers, aged ≥ 65 years, and polypharmacy (regularly ≥ five drugs) were randomly allocated in equal proportions to usual care or a comprehensive pharmacist-led medication review conducted with the validated Fit fOR The Aged (FORTA) list. The FORTA score is the sum of drugs classified as potentially inappropriate medication (PIM) (each two points), drug underuse (each one point), and drug overuse (each one point). Changes in the FORTA score and its subcomponents from rehabilitation admission to discharge were tested using the chi-square test or the Wilcoxon's rank-sum test.</p><p><strong>Findings: </strong>At admission, 66.1%, 94.6%, and 58.9% of 443 trial participants included in the intention-to-treat analysis were exposed to PIM, medication underuse, or overuse, respectively, and the median FORTA score was six. At discharge, participants of the intervention group (n = 234) had a statistically significant greater reduction in the mean FORTA score than the control group (n = 209): mean difference [95% confidence interval]: -3.7 [-4.2; -3.3] score points. Furthermore, the proportions of subjects with PIM, underuse, and overuse were statistically significantly reduced by the intervention by 41.3, 35.5, and 30.7 percentage points (all p < 0.001).</p><p><strong>Interpretation: </strong>The pharmacist-led intervention with the FORTA list substantially improved the medication quality of older cancer patients with polypharmacy in clinical practice. A reduction of four FORTA score points (rounded) translates, for example, to the withdrawal of two PIMs or four drugs labeled overuse.</p>","PeriodicalId":196,"journal":{"name":"Journal of Internal Medicine","volume":" ","pages":""},"PeriodicalIF":7.6,"publicationDate":"2026-09-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149023407","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
European genomic: An untapped opportunity to strengthen the fight against antimicrobial resistance. 欧洲基因组:加强对抗抗菌素耐药性的未开发机会。
IF 7.6 2区 医学
Journal of Internal Medicine Pub Date : 2026-09-16 DOI: 10.1111/joim.70163
Antonio Vitiello, Andrea Zovi
{"title":"European genomic: An untapped opportunity to strengthen the fight against antimicrobial resistance.","authors":"Antonio Vitiello, Andrea Zovi","doi":"10.1111/joim.70163","DOIUrl":"https://doi.org/10.1111/joim.70163","url":null,"abstract":"","PeriodicalId":196,"journal":{"name":"Journal of Internal Medicine","volume":" ","pages":""},"PeriodicalIF":7.6,"publicationDate":"2026-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148981792","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
Selective glomerular hypofiltration is associated with glucometabolic disturbances in the general population 在一般人群中,选择性肾小球低滤过与糖代谢紊乱有关。
IF 7.6 2区 医学
Journal of Internal Medicine Pub Date : 2026-09-11 Epub Date: 2026-08-12 DOI: 10.1111/joim.70148
Christopher Nilsson, Agne Laucyte-Cibulskiene, Amra Jujic, Marcus A. Ohlsson, Gregor Guron, Maria K. Svensson, Maria Weiner, P. Andreas Jonsson, Johan Ärnlöv, Gunnar Engström, Anders Grubb, Anders Larsson, Martin Magnusson, Anders Christensson
{"title":"Selective glomerular hypofiltration is associated with glucometabolic disturbances in the general population","authors":"Christopher Nilsson,&nbsp;Agne Laucyte-Cibulskiene,&nbsp;Amra Jujic,&nbsp;Marcus A. Ohlsson,&nbsp;Gregor Guron,&nbsp;Maria K. Svensson,&nbsp;Maria Weiner,&nbsp;P. Andreas Jonsson,&nbsp;Johan Ärnlöv,&nbsp;Gunnar Engström,&nbsp;Anders Grubb,&nbsp;Anders Larsson,&nbsp;Martin Magnusson,&nbsp;Anders Christensson","doi":"10.1111/joim.70148","DOIUrl":"10.1111/joim.70148","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Discordance between cystatin C- and creatinine-based estimated glomerular filtration rate (eGFR) has been linked to adverse outcomes. A low eGFR<sub>cys</sub>/eGFR<sub>cr</sub>-ratio, conceptualized as selective glomerular hypofiltration syndrome (SGHS), has been hypothesized to reflect early metabolic kidney vulnerability, although non-glomerular filtration rate determinants may also contribute. We investigated associations of dysglycemia and insulin resistance with the eGFR<sub>cys</sub>/eGFR<sub>cr</sub>-ratio in a general population.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>In 28,078 participants aged 50–64 years from the Swedish CArdioPulmonary bioImage Study, we assessed glycemic status (normoglycemia, prediabetes, and diabetes), hemoglobin A1c (HbA1c), fasting glucose, and insulin resistance (homeostatic model assessment of insulin resistance [HOMA-IR]). Outcomes were the continuous eGFR<sub>cys</sub>/eGFR<sub>cr</sub>-ratio and SGHS defined as eGFR<sub>cys</sub>/eGFR<sub>cr</sub>-ratio &lt;0.7. Multivariable linear and logistic regression adjusted for demographic, metabolic, cardiovascular, and kidney covariates; sensitivity analyses used alternative eGFR equations.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Mean eGFR<sub>cys</sub>/eGFR<sub>cr</sub>-ratio declined across glycemic categories (normoglycemia 0.95, prediabetes 0.90, diabetes 0.85; <i>p</i> &lt; 0.001). SGHS prevalence increased stepwise (6.5%, 10.7%, and 19.5%, respectively). In fully adjusted models, higher HbA1c (per 10 mmol/mol) and fasting glucose (per 1 mmol/L) were inversely associated with the eGFR<sub>cys</sub>/eGFR<sub>cr</sub>-ratio (<i>β</i> −0.015 and −0.008, respectively; both <i>p</i> &lt; 0.001) and positively associated with SGHS (odds ratio [OR] 1.27 and 1.12; both <i>p</i> &lt; 0.001). Higher HOMA-IR was independently associated with SGHS, with the strongest associations observed in normoglycemia (OR 1.27, 95% confidence interval [CI] 1.12–1.45) and prediabetes (OR 1.41, 95% CI 1.12–1.76).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Dysglycemia and insulin resistance were associated with a lower eGFR<sub>cys</sub>/eGFR<sub>cr</sub>-ratio and higher SGHS prevalence. These findings may reflect kidney vulnerability, altered biomarker metabolism, or both.</p>\u0000 </section>\u0000 </div>","PeriodicalId":196,"journal":{"name":"Journal of Internal Medicine","volume":"300 4","pages":"499-512"},"PeriodicalIF":7.6,"publicationDate":"2026-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/joim.70148","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148710721","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Liver cirrhosis is associated with altered glucocorticoid metabolism related to disease severity 肝硬化与与疾病严重程度相关的糖皮质激素代谢改变有关。
IF 7.6 2区 医学
Journal of Internal Medicine Pub Date : 2026-09-11 Epub Date: 2026-08-14 DOI: 10.1111/joim.70149
Soyeon Park, Min Jeong Park, Hye Won Yang, Jeayeon Park, Su Jong Yu, Seung Shin Park, Man-Ho Choi, Eun Ju Cho, Jung Hee Kim
{"title":"Liver cirrhosis is associated with altered glucocorticoid metabolism related to disease severity","authors":"Soyeon Park,&nbsp;Min Jeong Park,&nbsp;Hye Won Yang,&nbsp;Jeayeon Park,&nbsp;Su Jong Yu,&nbsp;Seung Shin Park,&nbsp;Man-Ho Choi,&nbsp;Eun Ju Cho,&nbsp;Jung Hee Kim","doi":"10.1111/joim.70149","DOIUrl":"10.1111/joim.70149","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Liver cirrhosis (LC) is frequently complicated by adrenal dysfunction; however, whether cirrhosis drives the coordinated, pathway-specific reprogramming of cortisol metabolism remains unclear.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Objectives</h3>\u0000 \u0000 <p>We aimed to characterize axis-specific alterations in cortisol metabolism in patients with LC, those with adrenal insufficiency (AI), and controls using integrated serum and salivary steroid profiling.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>This prospective study included adults with LC (<i>n</i> = 33) and control participants without cirrhosis who underwent cosyntropin-stimulation test following transsphenoidal surgery for a nonfunctioning pituitary adenoma (controls, <i>n</i> = 27; AI, <i>n</i> = 10). Serum and saliva samples were collected at baseline, 30 and 60 min after stimulation and profiled for 26 serum and 12 salivary steroids through liquid chromatography–tandem mass spectrometry. Multivariate models were constructed to identify cirrhosis-associated steroid features, and their associations with disease severity.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>LC was characterized by axis-specific steroid remodeling, including suppressed 11β-hydroxysteroid dehydrogenase 1 and A-ring reduction activity with the 20α-reduction pathway activation. Representative changes included a lower peak cortisol-to-cortisone ratio and reduced tetrahydrocortisone-to-cortisone ratio, alongside increased 20α-reduced metabolites (all <i>p</i> &lt; 0.001). This pattern was distinct from that in AI, in which steroid production and downstream metabolites were uniformly reduced. Iterative model refinement identified a parsimonious seven-steroid signature that discriminated patients with LC from controls. Within the LC cohort, the steroid signature correlated with the Child–Pugh score.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>LC is associated with coordinated, axis-specific cortisol metabolic reprogramming, which is mechanistically distinct from AI. Integrated steroid profiling may provide mechanistic insight into altered glucocorticoid metabolism in cirrhosis and its relationship to disease severity\u0000.</p>\u0000 </section>\u0000 </div>","PeriodicalId":196,"journal":{"name":"Journal of Internal Medicine","volume":"300 4","pages":"513-527"},"PeriodicalIF":7.6,"publicationDate":"2026-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/joim.70149","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148757262","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Genomic Medicine Sweden: Advancing precision medicine at the national level 瑞典基因组医学:在国家层面推进精准医学。
IF 7.6 2区 医学
Journal of Internal Medicine Pub Date : 2026-09-11 Epub Date: 2026-07-06 DOI: 10.1111/joim.70129
Anders Edsjö, Anna Lindstrand, Panagiotis Baliakas, David Gisselsson, Paula Mölling, Mia Wadelius, Åsa Johansson, Hannes Olauson, Hans Ehrencrona, Lovisa Lovmar, Christian G. Giske, Henrik Green, Ann Nordgren, Fulya Taylan, Martin Hallbeck, Erika Tång Hallbäck, Anna Green, Markus Heidenblad, Kina Höglund, Anders Jemt, Carl Mårten Lindqvist, Maria Johansson Soller, Magnus Sabel, Colum Walsh, Hartmut Vogt, Craig E. Wheelock, Martin Bergö, Jens Enoksson, Ann Ekberg Jansson, Cecilia Fagerström, Jan Holgersson, Stephanie Anja Juran, Mats G. Karlsson, Frida Lundmark, Eva Tiensuu Janson, Andreas Muranyi Scheutz, Malin Sund, Päivi Östling, Sofia Gruvberger-Saal, Marene Landström, Malin Melin, Lars Palmqvist, Richard Palmqvist, Bianca Stenmark, Anna Wedell, Malin Karnå, Katarina Nyström, Tobias Strid, Per Sikora, Maria Johansson, Therese Fagerqvist, Mirja Carlsson Möller, Oskar Frisell, Mats Ulfendahl, Mikaela Friedman, Lucia Cavelier, Valtteri Wirta, Thoas Fioretos, Richard Rosenquist
{"title":"Genomic Medicine Sweden: Advancing precision medicine at the national level","authors":"Anders Edsjö,&nbsp;Anna Lindstrand,&nbsp;Panagiotis Baliakas,&nbsp;David Gisselsson,&nbsp;Paula Mölling,&nbsp;Mia Wadelius,&nbsp;Åsa Johansson,&nbsp;Hannes Olauson,&nbsp;Hans Ehrencrona,&nbsp;Lovisa Lovmar,&nbsp;Christian G. Giske,&nbsp;Henrik Green,&nbsp;Ann Nordgren,&nbsp;Fulya Taylan,&nbsp;Martin Hallbeck,&nbsp;Erika Tång Hallbäck,&nbsp;Anna Green,&nbsp;Markus Heidenblad,&nbsp;Kina Höglund,&nbsp;Anders Jemt,&nbsp;Carl Mårten Lindqvist,&nbsp;Maria Johansson Soller,&nbsp;Magnus Sabel,&nbsp;Colum Walsh,&nbsp;Hartmut Vogt,&nbsp;Craig E. Wheelock,&nbsp;Martin Bergö,&nbsp;Jens Enoksson,&nbsp;Ann Ekberg Jansson,&nbsp;Cecilia Fagerström,&nbsp;Jan Holgersson,&nbsp;Stephanie Anja Juran,&nbsp;Mats G. Karlsson,&nbsp;Frida Lundmark,&nbsp;Eva Tiensuu Janson,&nbsp;Andreas Muranyi Scheutz,&nbsp;Malin Sund,&nbsp;Päivi Östling,&nbsp;Sofia Gruvberger-Saal,&nbsp;Marene Landström,&nbsp;Malin Melin,&nbsp;Lars Palmqvist,&nbsp;Richard Palmqvist,&nbsp;Bianca Stenmark,&nbsp;Anna Wedell,&nbsp;Malin Karnå,&nbsp;Katarina Nyström,&nbsp;Tobias Strid,&nbsp;Per Sikora,&nbsp;Maria Johansson,&nbsp;Therese Fagerqvist,&nbsp;Mirja Carlsson Möller,&nbsp;Oskar Frisell,&nbsp;Mats Ulfendahl,&nbsp;Mikaela Friedman,&nbsp;Lucia Cavelier,&nbsp;Valtteri Wirta,&nbsp;Thoas Fioretos,&nbsp;Richard Rosenquist","doi":"10.1111/joim.70129","DOIUrl":"10.1111/joim.70129","url":null,"abstract":"<p>High-throughput sequencing has transformed clinical diagnostics of rare diseases (RD), cancer and infectious diseases by enabling the identification of disease-causing genetic alterations and facilitating individualised treatment and care. In response to these advances, Genomic Medicine Sweden (GMS) was established in 2017 as a national collaborative effort to accelerate implementation of genomics-based precision medicine within Sweden's regionally organized, publicly funded healthcare system. GMS brings together the seven university healthcare regions and their associated medical faculties, in collaboration with healthcare regions across Sweden, Science for Life Laboratory, patient organizations, industry and governmental agencies. Activities are coordinated through national disease-specific expert groups, supported by cross-cutting functions in bioinformatics, health economics, ethics, education and patient engagement. At the operational level, seven Genomic Medicine Centres, embedded at university hospitals, develop and deliver harmonised genomic diagnostics nationwide. The National Genomics Platform provides secure infrastructure for large-scale data storage, analysis, and national and international data sharing. Following initial project-based funding, GMS now receives long-term governmental support. This review describes the national implementation of genomic-based precision diagnostics, discusses challenges and lessons learnt, and highlights key milestones across disease areas, including whole-genome sequencing in RD and paediatric cancer, comprehensive genomic profiling of haematological malignancies and solid tumours, pathogen genomics in microbiology, pharmacogenomic testing and emerging applications of polygenic risk scores in complex diseases. Collectively, these efforts have contributed to more than 500,000 genomic tests being performed within Swedish healthcare between 2017 and 2025. Finally, we outline future diagnostic needs and priority areas to ensure sustainable, scalable and equitable access to precision medicine.</p>","PeriodicalId":196,"journal":{"name":"Journal of Internal Medicine","volume":"300 4","pages":"397-419"},"PeriodicalIF":7.6,"publicationDate":"2026-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/joim.70129","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148395393","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Ambient air temperature and out-of-hospital cardiac arrest: A national case-crossover study 环境空气温度与院外心脏骤停:一项全国病例交叉研究
IF 7.6 2区 医学
Journal of Internal Medicine Pub Date : 2026-09-11 Epub Date: 2026-08-03 DOI: 10.1111/joim.70144
Emily Yamron, Marcus Dahlquist, Martin Jonsson, Per Nordberg, Jacob Hollenberg, Leif Svensson, Stefan Agewall, Massimo Stafoggia, Petter Ljungman
{"title":"Ambient air temperature and out-of-hospital cardiac arrest: A national case-crossover study","authors":"Emily Yamron,&nbsp;Marcus Dahlquist,&nbsp;Martin Jonsson,&nbsp;Per Nordberg,&nbsp;Jacob Hollenberg,&nbsp;Leif Svensson,&nbsp;Stefan Agewall,&nbsp;Massimo Stafoggia,&nbsp;Petter Ljungman","doi":"10.1111/joim.70144","DOIUrl":"10.1111/joim.70144","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Introduction</h3>\u0000 \u0000 <p>Out-of-hospital cardiac arrest (OHCA) is a major health concern. Roughly 300,000 cases occur annually in Europe; overall survival is 11%. Given the disease burden and increasingly extreme temperatures due to climate change, we investigated the association between air temperature and risk of OHCA in Sweden.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>This study employed a time-stratified case-crossover design to examine the relationship between daily mean air temperature and OHCA cases from the Swedish Registry for Cardiopulmonary Resuscitation between 2010 and 2019. Using a machine learning model, mean temperatures were estimated on a 1 × 1 km<sup>2</sup> grid and converted into location-specific percentiles for Sweden's 290 municipalities. The relationship between temperature and OHCA was estimated using conditional logistic regression.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>29,604 OHCA cases (32% women, median age 74 years) were included. The 1st percentile of temperature ranged from −32.7 to −5.98°C; the 99th percentile ranged from 16.6 to 22.8°C. The reference point, where OHCA risk was lowest, was the 86th percentile. The odds ratio (OR) of OHCA comparing 1st percentile of temperature with the 86th was 1.197 (95% confidence interval [CI] 1.066–1.344), and the OR of OHCA comparing the 99th versus 86th percentile was 1.156 (95% CI 1.058–1.263).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Location-specific extreme ambient air temperatures were associated with greater risk of OHCA in Sweden. This further adds to evidence suggesting that exposure to locally relative temperature extremes may increase risk of OHCA, even when temperatures do not represent extreme temperature events by absolute metrics. These results may be limited by potential discordance between ambient temperature and individual temperature exposure.</p>\u0000 </section>\u0000 </div>","PeriodicalId":196,"journal":{"name":"Journal of Internal Medicine","volume":"300 4","pages":"489-498"},"PeriodicalIF":7.6,"publicationDate":"2026-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/joim.70144","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148667743","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Advances in the treatment of systemic lupus erythematosus: Biologicals, small-molecular agents, and cell-depleting therapies coming to the clinic 系统性红斑狼疮的治疗进展:生物制剂、小分子药物和细胞消耗疗法进入临床。
IF 7.6 2区 医学
Journal of Internal Medicine Pub Date : 2026-09-11 Epub Date: 2026-08-05 DOI: 10.1111/joim.70146
Ronald van Vollenhoven
{"title":"Advances in the treatment of systemic lupus erythematosus: Biologicals, small-molecular agents, and cell-depleting therapies coming to the clinic","authors":"Ronald van Vollenhoven","doi":"10.1111/joim.70146","DOIUrl":"10.1111/joim.70146","url":null,"abstract":"<p>Systemic lupus erythematosus (SLE; lupus) remains a particular challenge for the practicing clinician on account of its chronic undulating and unpredictable course, its diverse manifestations, and—until recently—limited treatment options all associated with considerable downsides. However, a major change in this situation is currently taking place. Over the past few years, several new biological therapeutics have been approved for the treatment of SLE (belimumab and anifrolumab) or specifically for its renal organ manifestation (obinutuzumab), along with one new small molecular treatment for the latter (voclosporin). Several additional biologicals (litifilimab and dapirolizumab) and small molecules (deucravacitinib, upadacitinib, and cerenimod) are in late-stage clinical development. Moreover, multiple case series and case reports have been published in the past years demonstrating excellent individual results following treatments aimed at fully depleting B lymphocytes using chimeric antigen receptor bearing T cells (CAR-T cells) or bi-specific T-cell engagers. These reports have raised hopes that not only solid disease control, but also a more profound state of immunological reset—deep remission—can be attained in at least some patients. In this narrative review, these developments will be described, emphasizing both the promises and the challenges they bring about, leading into some predictions of where they may lead to. A reasonable expectation is that in the coming 1–2 years, several additional biologicals and small-molecular agents will be approved for the treatment of lupus. The most important conclusion is that the future for our patients with lupus looks brighter than ever before.</p>","PeriodicalId":196,"journal":{"name":"Journal of Internal Medicine","volume":"300 4","pages":"461-479"},"PeriodicalIF":7.6,"publicationDate":"2026-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/joim.70146","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148672785","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Histologic metabolic dysfunction–associated steatotic liver disease severity associated with a graded increase in peripheral artery disease risk 组织学代谢功能障碍相关的脂肪变性肝病严重程度与外周动脉疾病风险的分级增加相关
IF 7.6 2区 医学
Journal of Internal Medicine Pub Date : 2026-09-11 Epub Date: 2026-07-26 DOI: 10.1111/joim.70141
Shuai Yuan, Fahim Ebrahimi, Jiangwei Sun, Hannes Hagström, Carole A. Marxer, Michael G. Clark, Marijana Vujkovic, Scott M. Damrauer, Jonas F. Ludvigsson
{"title":"Histologic metabolic dysfunction–associated steatotic liver disease severity associated with a graded increase in peripheral artery disease risk","authors":"Shuai Yuan,&nbsp;Fahim Ebrahimi,&nbsp;Jiangwei Sun,&nbsp;Hannes Hagström,&nbsp;Carole A. Marxer,&nbsp;Michael G. Clark,&nbsp;Marijana Vujkovic,&nbsp;Scott M. Damrauer,&nbsp;Jonas F. Ludvigsson","doi":"10.1111/joim.70141","DOIUrl":"10.1111/joim.70141","url":null,"abstract":"&lt;p&gt;Dear Editor,&lt;/p&gt;&lt;p&gt;Metabolic dysfunction–associated steatotic liver disease (MASLD, previously called NAFLD) affects approximately 30% of adults and is linked to cardiometabolic comorbidity [&lt;span&gt;1&lt;/span&gt;]. MASLD has been associated with a higher risk of peripheral artery disease (PAD) [&lt;span&gt;2&lt;/span&gt;]; however, few studies have evaluated risk across histologic severity stages [&lt;span&gt;3&lt;/span&gt;]. Using a nationwide cohort of patients with biopsy-verified MASLD, we quantified the risk of incident PAD overall and by MASLD severity.&lt;/p&gt;&lt;p&gt;The current study was based on the ESPRESSO study, a nationwide population-based cohort containing liver histopathology from 28 Swedish pathology departments [&lt;span&gt;4&lt;/span&gt;]. For each liver biopsy report, laboratories provided the personal identity number, biopsy date, liver topography (T56), and SNOMED morphology codes, and, when available, free text. ESPRESSO was linked to nationwide registers capturing demographics, level of education, comorbidities, prescribed medications, inpatient and hospital-based outpatient care, and mortality. The study was approved by the Stockholm Regional Ethics Authority; informed consent was waived due to the register-based nature of the study.&lt;/p&gt;&lt;p&gt;Individuals with MASLD were identified using SNOMED codes, international classification of disease (ICD) codes, and biopsy-report text, restricting inclusion to adults (≥18 years) with a liver biopsy. Follow-up began at biopsy or at the first relevant ICD code (index date). We excluded individuals with competing liver diseases, alcohol misuse, prior liver transplantation, or emigration before index to decrease misclassification. MASLD was classified as simple steatosis, MASH without fibrosis, non-cirrhotic fibrosis, or cirrhosis. Each MASLD case was matched to up to five general-population references (sex, age, county, and calendar year) and additionally compared with full siblings without the diagnosis of MASLD to account for intrafamilial confounding.&lt;/p&gt;&lt;p&gt;PAD was defined according to ICD-codes or relevant procedure codes [&lt;span&gt;5&lt;/span&gt;]. Metabolic conditions (obesity, diabetes, hypertension, and dyslipidemia) and chronic obstructive pulmonary disease (proxy for severe smoking) were identified from the National Patient Register using ICD codes, supplemented by Prescribed Drug Register data. Healthcare visits 6–24 months prior to index date captured healthcare utilization.&lt;/p&gt;&lt;p&gt;We examined incident PAD by MASLD presence and histologic severity, comparing MASLD patients with matched population comparators. Follow-up ran from MASLD index biopsy to first PAD, death, emigration, or December 31, 2023. We computed incidence rate differences per person-years and used Cox models conditioned on matching factors, with adjustment for education, metabolic conditions, and healthcare use. Sensitivity analyses included sibling comparisons and Fine-Gray competing-risk models. Proportionality assumption of Cox regression was tested by Schoenfeld r","PeriodicalId":196,"journal":{"name":"Journal of Internal Medicine","volume":"300 4","pages":"528-530"},"PeriodicalIF":7.6,"publicationDate":"2026-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/joim.70141","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148589374","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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