{"title":"An electronic medical record retrieval system can be used to identify missed diagnosis in patients with primary ciliary dyskinesia","authors":"Wangji Zhou, Qiaoling Chen, Yaqi Wang, Anhui Guo, Aohua Wu, Xueqi Liu, Jinrong Dai, Shuzhen Meng, Christopher Situ, Yaping Liu, Kai-Feng Xu, Weiguo Zhu, Xinlun Tian","doi":"10.1111/joim.20034","DOIUrl":"10.1111/joim.20034","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous disease. Due to difficulty accessing diagnostic services and a lack of awareness of the syndrome, clinicians often fail to recognize the classic phenotype, leading to missed diagnoses.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Relevant medical records were accessed through The BIG DATA QUERY AND ANALYSIS SYSTEM of Peking Union Medical College Hospital from September 1, 2012 to March 31, 2024. The search strategy included the following key terms: (bronchiectasis OR atelectasis OR recurrent cough OR recurrent expectoration OR hemoptysis) AND (sinusitis OR nasal polyps OR otitis media OR neonatal pneumonia OR neonatal respiratory distress OR ectopic pregnancy OR infertility OR artificial insemination OR assisted reproduction OR hydrocephalus OR congenital heart disease OR organ laterality defect OR right-sided heart OR semen OR consanguineous marriage). Patients were filtered according to inclusion and exclusion criteria, and those with clinical suspicion of PCD were invited for screening, which included nasal nitric oxide and whole exome sequencing.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>A total of 874 medical records were retrieved. After filtering based on inclusion and exclusion criteria, 65 patients with clinical suspicion of PCD were identified, 21 of whom accepted our invitation to complete PCD-related screening. Among them, four were diagnosed with PCD, one was diagnosed with cystic fibrosis, and one was diagnosed with immunodeficiency-21.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>This is the first study to use an electronic medical record retrieval system to identify missed diagnoses PCD. We believe that the methods used in this study can be extended to other rare diseases in the future.</p>\u0000 </section>\u0000 </div>","PeriodicalId":196,"journal":{"name":"Journal of Internal Medicine","volume":"297 1","pages":"93-100"},"PeriodicalIF":9.0,"publicationDate":"2024-11-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11636425/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142692170","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}
Osman Ahmed, Vladimir S. Shavva, Laura Tarnawski, Wanmin Dai, Filip Borg, Viggo V. Olofsson, Ting Liu, Peter Saliba-Gustafsson, Christian Simini, Matteo Pedrelli, Otto Bergman, Giuseppe Danilo Norata, Paolo Parini, Anders Franco-Cereceda, Per Eriksson, Stephen G. Malin, Hanna M. Björck, Peder S. Olofsson
{"title":"Statin-associated regulation of hepatic PNPLA3 in patients without known liver disease","authors":"Osman Ahmed, Vladimir S. Shavva, Laura Tarnawski, Wanmin Dai, Filip Borg, Viggo V. Olofsson, Ting Liu, Peter Saliba-Gustafsson, Christian Simini, Matteo Pedrelli, Otto Bergman, Giuseppe Danilo Norata, Paolo Parini, Anders Franco-Cereceda, Per Eriksson, Stephen G. Malin, Hanna M. Björck, Peder S. Olofsson","doi":"10.1111/joim.20032","DOIUrl":"10.1111/joim.20032","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background and objectives</h3>\u0000 \u0000 <p>Statins are used for metabolic dysfunction-associated steatotic liver disease (MASLD) (NAFLD) treatment, but their role in this context is unclear. Genetic variants of patatin-like phospholipase domain containing 3 (<i>PNPLA3</i>) are associated with MASLD susceptibility and statin treatment efficacy. Access to liver biopsies before established MASLD is limited, and statins and PNPLA3 in early liver steatosis are thus difficult to study.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Liver biopsies were collected from 261 patients without known liver disease at surgery and stratified based on statin use and criteria for the metabolic syndrome (MS). Genotypes and transcript levels were measured using Illumina and Affymetrix arrays, and metabolic and lipoprotein profiles by clinical assays. Statin effects on PNPLA3, de novo lipogenesis (DNL), and lipid accumulation were further studied in vitro.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The PNPLA3<sup>I148M</sup> genetic variant was associated with significantly lower hepatic levels of cholesterol synthesis-associated transcripts. Patients with MS had significantly higher hepatic levels of MASLD and lipogenesis-associated transcripts than non-MS patients. Patients with MS on statin therapy had significantly higher hepatic levels of <i>PNPLA3</i>, acetyl-CoA carboxylase alpha, and ATP citrate lyase, and statin use was associated with higher plasma fasting glucose, insulin, and HbA1c. Exposure of hepatocyte-like HepG2 cells to atorvastatin promoted intracellular accumulation of triglycerides and lipogenesis-associated transcripts. Atorvastatin-exposure of HepG2, sterol <i>O</i>-acyltransferase <i>(SOAT) 2</i>-only-HepG2, primary human hepatic stellate, and hepatic stellate cell-like LX2 cells significantly increased levels of <i>PNPLA3</i> and SREBF2-target genes, whereas knockdown of SREBF2 attenuated this effect.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Collectively, these observations suggest statin-associated regulation of PNPLA3 and DNL in liver. The potential interaction between <i>PNPLA3</i> genotype and metabolic status should be considered in future studies in the context of statin therapy for MASLD.</p>\u0000 </section>\u0000 </div>","PeriodicalId":196,"journal":{"name":"Journal of Internal Medicine","volume":"297 1","pages":"47-59"},"PeriodicalIF":9.0,"publicationDate":"2024-11-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11636427/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142666513","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}
Anna Åkesson, Linnea Malmgren, Felicia Leion, Ulf Nyman, Anders Christensson, Jonas Björk, Anders Grubb
{"title":"Different ways of diagnosing selective glomerular hypofiltration syndromes such as shrunken pore syndrome and the associated increase in mortality","authors":"Anna Åkesson, Linnea Malmgren, Felicia Leion, Ulf Nyman, Anders Christensson, Jonas Björk, Anders Grubb","doi":"10.1111/joim.20035","DOIUrl":"10.1111/joim.20035","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>In 2015, a selective decrease in the glomerular filtration of middle-sized molecules such as cystatin C compared to small molecules such as creatinine was first described and tentatively termed “Shrunken pore syndrome.” Numerous studies have thereafter found an association between this syndrome (defined by a low eGFR<sub>cystatin C</sub> to eGFR<sub>creatinine</sub> ratio) and mortality and morbidity. In 2023, the syndrome was renamed selective glomerular hypofiltration syndromes (SGHS) as shrunken pores are not the only pathophysiological mechanism. Recently, some studies have used the difference between eGFR<sub>cystatin C</sub> and eGFR<sub>creatinine</sub> to describe a similar disorder, and this investigation compares the two measures.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Using a cohort of 2781 adults with a median follow-up of 5.6 years, referred for determination of glomerular filtration rate (GFR), estimated GFR (eGFR) was determined using four equations. SGHS was defined using the eGFR<sub>difference</sub> and the eGFR<sub>ratio</sub> and association to mortality investigated through adjusted Cox proportional hazard models. From each adjusted regression model, Harrell's C-index and 95% confidence intervals were calculated.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Both measures were associated with mortality. No significant differences concerning hazard ratios or Harrell's C-index were found between the two measures to estimate mortality, and both identified SGHS and increased mortality in a subpopulation of 567 “healthy” individuals with no prior diagnosis and with no kidney disorder according to the kidney disease improving global outcomes-criteria.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>The eGFR<sub>difference</sub> is not superior to the eGFR<sub>ratio</sub> in diagnosing SGHS or estimating mortality. However, as the two measures do not identify the same subpopulation, using them simultaneously might improve risk stratification.</p>\u0000 </section>\u0000 </div>","PeriodicalId":196,"journal":{"name":"Journal of Internal Medicine","volume":"297 1","pages":"79-92"},"PeriodicalIF":9.0,"publicationDate":"2024-11-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11636450/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142666512","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}
Mehrsa Jalalizadeh, Keini Buosi, Cristiane F. Giacomelli, Patricia A.F. Leme, Karen L. Ferrari, Franciele A.V. Dionato, Wandrey R.S. Brito, Natália S. Brunetti, Aline R. Maia, Joseane Morari, Ana C. Pagliarone, Alessandro S. Farias, Licio A. Velloso, Maria A.F. Queiroz, Antonio C.R. Vallinoto, Marcio C. Bajgelman, Leonardo O. Reis
{"title":"Therapeutic BCG vaccine protects against long COVID: The BATTLE randomized clinical trial","authors":"Mehrsa Jalalizadeh, Keini Buosi, Cristiane F. Giacomelli, Patricia A.F. Leme, Karen L. Ferrari, Franciele A.V. Dionato, Wandrey R.S. Brito, Natália S. Brunetti, Aline R. Maia, Joseane Morari, Ana C. Pagliarone, Alessandro S. Farias, Licio A. Velloso, Maria A.F. Queiroz, Antonio C.R. Vallinoto, Marcio C. Bajgelman, Leonardo O. Reis","doi":"10.1111/joim.20033","DOIUrl":"10.1111/joim.20033","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Bacillus Calmette–Guérin (BCG) injected during the COVID-19 convalescence period was safe and enhanced recovery from anosmia and dysgeusia in the acute phase.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Objectives</h3>\u0000 \u0000 <p>To report the long-term results of the BATTLE trial, BCG vaccine in adults with mild COVID-19.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Design: Double-blind, placebo-controlled, randomized (1:1) clinical trial. Intervention: BCG intradermal vaccine and placebo. Patients: A total of 157 BCG and 142 placebo recipients participated in the 6-month follow-up, and 97 BCG and 95 placebo recipients participated in the 12-month follow-up. Measurements: Long COVID symptoms and mechanistic analyses.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>BCG reduced hearing problems at 6 months (odds ratio [OR] = 0.26) and sleeping, concentration, memory, and vision problems at 12 months (OR = 0.45, 0.36, 0.38, and 0.36, respectively). Sensitivity analyses confirmed that long COVID-19 symptoms were reduced at the 6- and 12-month follow-ups (<i>p</i> = 0.010 and 0.031, respectively). BCG's crossover interaction paradoxically increased hair loss in women and decreased it in men at 6 months (<i>p</i> = 0.032). BCG immunomodulation is likely mediated through inhibition of Fas ligand expression in the blood and increased induction of IL6, IL10, interferon-induced transmembrane protein 3, and angiotensin-converting enzyme 2 in cultured human macrophages.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Long-term follow-up of the BATTLE trial participants revealed that BCG protects against long COVID development if administered within the COVID-19 convalescence period. The response to BCG was subject-specific, including a paradoxical crossover interaction based on sex. Limitations: Not tested for previous mycobacterial exposure; loss to follow-up, particularly at 12 months.</p>\u0000 </section>\u0000 </div>","PeriodicalId":196,"journal":{"name":"Journal of Internal Medicine","volume":"297 1","pages":"60-78"},"PeriodicalIF":9.0,"publicationDate":"2024-11-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142666166","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}
Anne-Laure Faucon, Stefania Lando, Charikleia Chrysostomou, Julia Wijkström, Sigrid Lundberg, Rino Bellocco, Mårten Segelmark, Marie Evans, Juan-Jesús Carrero
{"title":"Primary glomerular diseases and long-term adverse health outcomes: A nationwide cohort study","authors":"Anne-Laure Faucon, Stefania Lando, Charikleia Chrysostomou, Julia Wijkström, Sigrid Lundberg, Rino Bellocco, Mårten Segelmark, Marie Evans, Juan-Jesús Carrero","doi":"10.1111/joim.20024","DOIUrl":"10.1111/joim.20024","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Although glomerular diseases are the third most frequent cause of end-stage kidney disease worldwide, little is known about their long-term outcomes.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>In patients with chronic kidney disease (CKD) stage 3–5 enrolled in the Swedish Renal Registry, we compared risks of hospitalization, kidney replacement therapy (KRT), major cardiovascular events (MACE), and death of the four most frequent primary glomerular diseases (IgA nephropathy [IgAN], focal segmental glomerulosclerosis [FSGS], minimal change disease [MCD], and membranous nephropathy [MN]), and patients with CKD due to the most common non-communicable diseases (control-CKD).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>We identified 2396 patients with glomerular disease (97% biopsy-proven, 69% men, 57 years, eGFR 29 mL/min/1.73 m<sup>2</sup>, uACR 88 mg/mmol, 1524 with IgAN, 398 FSGS, 94 MCD, and 380 MN) and 37,697 controls (64% men, 74 years, eGFR 25 mL/min/1.73 m<sup>2</sup>, uACR 23 mg/mmol), mainly with diabetic nephropathy and nephroangiosclerosis. The median follow-up was 6.3 (3.3; 9.9) years. Compared with control-CKD, patients with primary glomerular diseases generally had a lower risk of hospitalization, MACE (adjusted hazard ratios [HRs] ranging from 0.44 to 0.88 depending on the etiology) and death (HRs ranging 0.45–0.76). Patients with IgAN and FSGS had a faster eGFR decline and a higher rate of KRT (HRs 1.26 [95%CI: 1.15–1.37] and 1.34 [1.15–1.57], respectively). Conversely, patients with MN and MCD had a lower KRT rate and slower eGFR decline.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Despite having a lower relative risk of hospitalization, cardiovascular events and mortality, patients with IgAN and FSGS are at higher risk of CKD progression than the most common etiologies of CKD, emphasizing the need for more stringent treatment strategies in these patients.</p>\u0000 </section>\u0000 </div>","PeriodicalId":196,"journal":{"name":"Journal of Internal Medicine","volume":"297 1","pages":"22-35"},"PeriodicalIF":9.0,"publicationDate":"2024-11-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11636430/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142613230","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}
{"title":"Association among major adverse cardiovascular events with immune checkpoint inhibitors: A systematic review and meta-analysis","authors":"Haixia Li, Yanfei Zheng, Bin Li, Yinghao Zhi, Mingxian Chen, Jing Zeng, Qian Jiao, Yuxuan Tao, Xinmei Liu, Zican Shen, Jiahui Zhang, Weizhe Zhao, Dong Chen","doi":"10.1111/joim.20028","DOIUrl":"10.1111/joim.20028","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>This meta-analysis aimed to determine the incidence and overall risk of major adverse cardiovascular events (MACEs) related to immune checkpoint inhibitors (ICIs).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We systematically searched all cohort studies, including the available MACE data in cancer patients receiving ICIs, in PubMed, Embase, and the Cochrane Library, from their inception to September 5, 2023. The primary outcome was the incidence of MACEs associated with ICI exposure, and the secondary outcome was the overall risk of MACEs associated with ICI exposure versus non-ICI exposure controls. Risk ratios with 95% confidence intervals were used in the random- or fixed-effects models.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Overall, 26 cohort studies met the inclusion criteria, involving 109,883 cancer patients. In the median follow-up period ranging from 3.3 to 55.2 months, the incidence of MACEs associated with ICI exposure was 8.22%, ranging from 0.55% to 3.98%, among the nine MACEs, including myocarditis, tachyarrhythmia, pericarditis, pericardial effusions, cardiovascular death, myocardial infarction, heart failure, stroke, and conduction disorder. The incidence of MACE associated with non-ICI exposure was 3.84%, ranging from 0.81% to 4.72%. The risks of all-grade MACEs and pericardial effusions were significantly higher in the ICI group than in the non-ICI controls. ICI treatment, age, male sex, and prior radiation therapy were significantly associated with MACEs.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>The risk of MACEs during ICI treatment in patients with cancer is more common than is currently recognized. ICI use is closely associated with an increased risk of MACEs. Patients at risk were older, male, and had a history of radiation therapy.</p>\u0000 </section>\u0000 </div>","PeriodicalId":196,"journal":{"name":"Journal of Internal Medicine","volume":"297 1","pages":"36-46"},"PeriodicalIF":9.0,"publicationDate":"2024-11-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142613221","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}
Ilaria Mastrorosa, Alessandro Cozzi Lepri, Cosmo Del Borgo, Silvia Rosati, Martina Rueca, Loredana Sarmati, Claudio Mastroianni, Massimo Fantoni, Fabrizio Maggi, Emanuele Nicastri, Enrico Girardi, Miriam Lichtner, Andrea Antinori, Valentina Mazzotta
{"title":"Incidence and predictors of clinical failure after early treatment for mild-to-moderate COVID-19 in high-risk individuals: A multicentric cohort study.","authors":"Ilaria Mastrorosa, Alessandro Cozzi Lepri, Cosmo Del Borgo, Silvia Rosati, Martina Rueca, Loredana Sarmati, Claudio Mastroianni, Massimo Fantoni, Fabrizio Maggi, Emanuele Nicastri, Enrico Girardi, Miriam Lichtner, Andrea Antinori, Valentina Mazzotta","doi":"10.1111/joim.20030","DOIUrl":"https://doi.org/10.1111/joim.20030","url":null,"abstract":"<p><strong>Objectives: </strong>To estimate the risk of COVID-19-related hospitalization and death (CovH/D), among high-risk individuals early treated for COVID-19 and to identify associated factors.</p><p><strong>Methods and results: </strong>A multicenter cohort of 12,475 high-risk outpatients (female 50.2%, median age 70 years [IQR 57-80], fully vaccinated 79.1%, immunocompromised 23.2%) treated with monoclonal antibodies or antivirals for mild-to-moderate COVID-19 (March 2021-May 2023) in the Lazio region, Italy. The unadjusted risk of CovH/D by Day 30 was 3.08% (95% CI 2.7%-3.4%). By means of logistic regression models, which included a specific set of potential confounders for each exposure of interest, we observed a higher risk for the elderly, unvaccinated and immunocompromised participants. Using the \"Delta period\" as a reference, a decreased risk was observed for Omicron waves.</p><p><strong>Conclusions: </strong>Despite the administration of COVID-19 early treatment and the decreasing risk of CovH/D across the calendar periods, the elderly, the unvaccinated and the immunocompromised people remain at high risk of clinical progression.</p>","PeriodicalId":196,"journal":{"name":"Journal of Internal Medicine","volume":" ","pages":""},"PeriodicalIF":9.0,"publicationDate":"2024-11-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142613223","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}
Ida Gruber, Barbara Kollerits, Lukas Forer, Silvia Di Maio, Johanna F. Schachtl-Riess, Azin Kheirkhah, Sebastian Schönherr, Ulla T. Schultheiss, Anna Köttgen, Kai-Uwe Eckardt, Stefan Coassin, Claudia Lamina, Florian Kronenberg
{"title":"Lipoprotein(a) concentrations and cardiovascular disease in patients with chronic kidney disease: Results from the German Chronic Kidney Disease study","authors":"Ida Gruber, Barbara Kollerits, Lukas Forer, Silvia Di Maio, Johanna F. Schachtl-Riess, Azin Kheirkhah, Sebastian Schönherr, Ulla T. Schultheiss, Anna Köttgen, Kai-Uwe Eckardt, Stefan Coassin, Claudia Lamina, Florian Kronenberg","doi":"10.1111/joim.20027","DOIUrl":"10.1111/joim.20027","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Lipoprotein(a) (Lp(a)) is a causal, genetically determined risk factor for cardiovascular disease (CVD) in the general population. Patients with chronic kidney disease (CKD) have an increased CVD risk and elevated Lp(a) concentrations. Only a few studies on Lp(a) were performed in persons with mild-to-moderate CKD; none of them used genetic variants to explore potential causal associations.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Objectives</h3>\u0000 \u0000 <p>This study aims to investigate the association of measured and genetically predicted Lp(a) concentrations on prevalent and incident CVD events in the German Chronic Kidney Disease (GCKD) study.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>The study included 5043 participants of European ancestry with an estimated glomerular filtration rate (eGFR) between 30 and 60 mL/min/1.73 m<sup>2</sup> or an eGFR >60 mL/min/1.73 m<sup>2</sup> in the presence of overt albuminuria with a follow-up of 6.5 years.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>With each 10 mg/dL higher Lp(a) concentration, odds for prevalent CVD (1290 events) increased 1.065-fold (95%CI: 1.042–1.088, <i>p </i>< 0.001). The risk was significantly higher in patients with Lp(a) ≥50 mg/dL but most pronounced in Lp(a) ≥70 mg/dL (odds ratio = 1.775 [1.409–2.231], <i>p </i>< 0.001) compared to Lp(a) <30 mg/dL. Each 10 mg/dL higher Lp(a) concentration and Lp(a) ≥70 mg/dL increased the risk for incident 3-point major adverse cardiovascular events (MACEs) (474 events): hazard ratio [HR] = 1.037 [1.009–1.067], <i>p</i> = 0.009 and HR = 1.335 [1.001–1.781], <i>p</i> = 0.050), respectively. Similar results were obtained for 4-point MACE (653 events). Analyses based on apo(a) isoforms and genetically predicted Lp(a) concentrations led to even stronger associations.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>In patients with mild-to-severe CKD, elevated Lp(a) concentrations and genetic determinants of Lp(a) concentrations are significantly associated with CVD at baseline and during follow-up, independent of traditional risk factors.</p>\u0000 </section>\u0000 </div>","PeriodicalId":196,"journal":{"name":"Journal of Internal Medicine","volume":"296 6","pages":"510-526"},"PeriodicalIF":9.0,"publicationDate":"2024-11-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/joim.20027","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142602660","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}
{"title":"Regarding: Time to initiation of extracorporeal membrane oxygenation in conventional cardiopulmonary resuscitation affects the patient survival prognosis","authors":"Xiao Liu, Bo Liu, Minli Yang, Liu Yang, Jun Wang","doi":"10.1111/joim.20022","DOIUrl":"10.1111/joim.20022","url":null,"abstract":"<p>The article by Sim et al. [<span>1</span>] in the <i>Journal of Internal Medicine</i> emphasized the critical role of timely ECMO application in optimizing outcomes for patients undergoing ECPR. While recognizing the careful work and valuable contributions of this study, there are some constructive suggestions for future advancement.</p><p>First, although the study accounted for various adjustment factors, it may have overlooked some potential influencing variables, such as patient comorbidities or changes in treatment protocols following ECMO initiation. These factors could affect the reliability and validity of the study's results [<span>2</span>].</p><p>Second, in the study, the Cox proportional hazards assumption may be violated for several reasons: time dependency: If the effect of ECMO initiation on survival varies over time, it breaches the assumption that hazard ratios remain constant throughout the study period; sample heterogeneity: Variability in patient characteristics within the sample may cause fluctuations in hazard ratios, thus violating the proportionality assumption; lack of testing: Without assessing the proportional hazards assumption using methods like Schoenfeld residuals, undetected violations could compromise the model's validity. Addressing these issues is crucial for ensuring the robustness and accuracy of the Cox regression analysis [<span>3</span>].</p><p>Third, the study primarily focuses on short-term outcomes (e.g., 30 days, 90 days, and 6 months), and there may be insufficient assessment of long-term survival and quality of life [<span>4</span>]. It is recommended that future research includes extended follow-up periods to obtain more comprehensive prognostic information.</p><p>In conclusion, the results of this study emphasize that the early initiation of ECMO during ECPR significantly improves short- and long-term overall survival outcomes. It highlights the need for prospective, multi-center research, long-term follow-up, standardized protocols, and optimization of procedures to improve clinical practices and patient survival.</p><p><b>Xiao Liu</b>: Conceptualization; methodology; writing—original draft; validation. <b>Bo Liu</b>: Writing—review and editing. <b>Minli Yang</b>: Methodology; supervision. <b>Liu Yang</b>: Methodology; writing—review and editing. <b>Jun Wang</b>: Writing—review and editing; supervision.</p><p>The authors declare no conflicts of interest.</p>","PeriodicalId":196,"journal":{"name":"Journal of Internal Medicine","volume":"296 6","pages":"535-536"},"PeriodicalIF":9.0,"publicationDate":"2024-10-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/joim.20022","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142491711","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}
{"title":"Regarding: Time to initiation of extracorporeal membrane oxygenation in conventional cardiopulmonary resuscitation affects the patient survival prognosis","authors":"Wei-Zhen Tang, Zhe-Ming Kang, Tai-Hang Liu","doi":"10.1111/joim.20021","DOIUrl":"10.1111/joim.20021","url":null,"abstract":"<p>After a thorough analysis of the study by Ji-Hoon Sim et al., published in the <i>Journal of Internal Medicine</i>, we express our appreciation for their findings that the early initiation of extracorporeal membrane oxygenation (ECMO) during cardiopulmonary resuscitation (CPR) significantly improves short- and long-term survival outcomes. The study highlights the critical role of timely ECMO application in enhancing treatment results for patients receiving extracorporeal PCR (ECPR) [<span>1</span>]. Nevertheless, we believe there are several key issues within the study that could impact the interpretation of the results.</p><p>First, the exclusion criteria of the study did not specifically mention whether certain populations that could significantly affect the study conclusions were excluded. These include patients over the age of 75, those with end-stage malignancies, those requiring ongoing life support, patients with cardiac tamponade due to aortic dissection, and those with persistent intracranial hemorrhage or severe brain injury [<span>2</span>]. For instance, elderly patients may have different physiological characteristics and disease risks, which could affect their response to treatment and recovery capabilities compared to younger patients. The overall health status and life expectancy of patients with end-stage malignancies are already severely compromised. If these patients were not properly excluded, their inclusion could lower overall survival rates, thereby affecting the assessment of ECMO efficacy. Patients who required continuous life support prior to cardiac arrest may have a poorer baseline health status, which could influence the accuracy of the study's findings regarding the relationship between the timing of ECMO initiation and survival rates.</p><p>Second, although the study distinguished between out-of-hospital cardiac arrest (OHCA) and in-hospital cardiac arrest patients, it did not detail whether key pre-hospital characteristics of OHCA patients were recorded [<span>2</span>]. Such characteristics include the time of collapse, the presence of a witness, bystander CPR, the occurrence of transient return of spontaneous circulation before hospital arrival, initial shockable rhythm, and the interval from collapse to the initiation of CPR. Pre-hospital constraints may delay the start of ECMO, thereby prolonging the duration of low blood flow in patients, affecting organ perfusion and, ultimately, prognosis [<span>3</span>]. Moreover, the ECMO outcomes for OHCA patients may be affected by the quality of emergency medical services and pre-hospital treatment systems. The difficulty of manual CPR during ambulance transport suggests that mechanical CPR before the start of ECMO could yield different survival outcomes. The lack of these data could limit a comprehensive understanding of the pre-hospital situation and resuscitation process for OHCA patients, which is crucial for analysing the impact of the CPR-to-ECMO interval on p","PeriodicalId":196,"journal":{"name":"Journal of Internal Medicine","volume":"296 6","pages":"533-534"},"PeriodicalIF":9.0,"publicationDate":"2024-10-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/joim.20021","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142491710","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}