Internal and Emergency Medicine最新文献

{"title":"Let us maximize the clinical utility of genetic testing while unraveling the pathogenesis of gallstone disease.","authors":"Agostino Di Ciaula, Piero Portincasa","doi":"10.1007/s11739-025-03878-7","DOIUrl":"10.1007/s11739-025-03878-7","url":null,"abstract":"","PeriodicalId":13662,"journal":{"name":"Internal and Emergency Medicine","volume":" ","pages":"343-344"},"PeriodicalIF":3.2,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143065429","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Comparing self-rated health among exclusive e-cigarette users and traditional cigarette smokers: an analysis of the Health Survey for England 2019.","authors":"Yusuff Adebayo Adebisi, Duaa Abdullah Bafail","doi":"10.1007/s11739-024-03817-y","DOIUrl":"10.1007/s11739-024-03817-y","url":null,"abstract":"<p><p>The health implications of e-cigarette use compared to traditional cigarette smoking continue to attract significant public health interest. This study examines self-rated health (SRH) outcomes among exclusive e-cigarette users versus exclusive traditional cigarette smokers, using data from the Health Survey for England 2019. From an initial sample of 10,299 participants, the study focused on 8204 adults, excluding those aged 0-15. Further refinement to exclusive nicotine product users led to 274 e-cigarette users and 1017 cigarette smokers, after excluding dual users, never users, ex-users, non-responders, and users of other tobacco products such as pipes and cigars. SRH was derived from participants' responses to a question asking how they rated their general health, with five possible options: \"very good\", \"good\", \"fair\", \"bad\", and \"very bad\". For the purposes of this study, these responses were collapsed into two categories: \"Good Health\" (combining \"very good\" and \"good\") and \"Poor Health\" (combining \"fair\", \"bad\", and \"very bad\"). Consequently, 834 participants were classified as reporting good health, while 457 reported poor health. Binary logistic regression, adjusted for factors such as age, sex, ethnicity, residence, education, body mass index, alcohol use, age started smoking, physical or mental health conditions, and frequency of GP visits, revealed that exclusive e-cigarette users were significantly more likely to report good health compared to exclusive cigarette smokers, with an odds ratio (OR) of 1.59 (95% CI: 1.10 - 2.32, p = 0.014). As a sensitivity analysis, a generalized ordered logistic regression model was performed using the original five SRH categories. The adjusted model confirmed consistent results, with exclusive e-cigarette users showing higher odds of reporting better health across the full range of SRH outcomes (OR = 1.40, 95% CI: 1.08-1.82, p = 0.011). These findings suggest that exclusive e-cigarette users perceive their health more positively than traditional cigarette smokers, contributing useful insights to the discussions around harm reduction strategies.</p>","PeriodicalId":13662,"journal":{"name":"Internal and Emergency Medicine","volume":" ","pages":"441-452"},"PeriodicalIF":3.2,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11950125/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142638839","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A family with gallstone disease: defining inherited risk in the era of clinical genetic testing.","authors":"Susanne N Weber, Irina Lambert, Frank Lammert, Marcin Krawczyk","doi":"10.1007/s11739-024-03854-7","DOIUrl":"10.1007/s11739-024-03854-7","url":null,"abstract":"<p><p>Gallstones are among the most frequent hepatobiliary conditions. Although in most cases, they remain asymptomatic, they can cause complications and, in such cases, invasive treatments like endoscopic retrograde cholangiography (ERC) or cholecystectomy are required. Here, we present the results of genetic testing of a single family with a high incidence of symptomatic gallstones and cholestatic liver phenotypes. Gallstone disease was detected among seven family members spanning three generations, and DNA samples were available from five of them. Genotyping was performed using TaqMan assays for known, selected genetic risk factors for gallstones and cholestasis, as well as next generation sequencing (NGS) of three genes involved in hepatobiliary transport. In all genotyped patients, we detected at least one copy of the gallstone-predisposing p.D19H variant in the hepatobiliary sterol transporter ABCG5/8, and in three cases, this variant was found in the rare homozygous state. In addition, the patients were all homozygous carriers of two intronic variants (c.2211+16C >T and c.3508-16T>C) and two common polymorphisms (c.504C>T and c.711A>T) in the ABCB4 gene, as well as the ATP8B1 gene variant c.696T>C. All genotyped patients also carried the predisposing variants c.1331C>T and c.3084A>G of the hepatobiliary bile salt export pump ABCB11 in either heterozygous or homozygous form. Hence, we propose that these variants taken together may have contributed to the high frequency of gallstone disease in this family, although functional studies for some variants are still lacking. In this report, we present these findings and discuss the challenges associated with interpreting sequencing data.</p>","PeriodicalId":13662,"journal":{"name":"Internal and Emergency Medicine","volume":" ","pages":"509-514"},"PeriodicalIF":3.2,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142948151","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Global burden and risk factors of MASLD: trends from 1990 to 2021 and predictions to 2030.","authors":"Minshan Huang, Hang Chen, Hui Wang, Yudi Zhang, Liya Li, Yang Lan, Lanqing Ma","doi":"10.1007/s11739-025-03895-6","DOIUrl":"https://doi.org/10.1007/s11739-025-03895-6","url":null,"abstract":"<p><p>The prevalence of metabolic dysfunction-associated steatotic liver disease (MASLD) is increasing globally, posing a major public health issue. This study analyzes the global, regional, and national burden of MASLD and its risk factors from 1990 to 2021, with projections to 2030. We obtained data on MASLD prevalence, deaths, and disability-adjusted life years (DALYs) from the Global Burden of Disease 2021 for 204 countries. Counts and rates per 100,000 population were calculated, and trends to 2030 were predicted using the Bayesian Age-Period-Cohort model. In 2021, there were 1,267.9 million MASLD cases globally, with 138.3 thousand deaths and 3667.3 thousand DALYs. The global age-standardized prevalence, death, and DALY rates were 15,018.1, 1.6, and 42.4 per 100,000 population, increasing by 24.3%, 5.5%, and 5.5% since 1990. North Africa and the Middle East had the highest prevalence, while Andean and Central Latin America had the highest death and DALY rates. Men aged 15-69 and 90-94 had higher DALY rates, while women aged 70-89 and 95+ had higher rates. A reversed V-shaped association was found between the sociodemographic index and DALY rate. High fasting plasma glucose (5.9%) and smoking (2.4%) were major risk factors. Public health efforts should prioritize early detection and management of MASLD in younger populations and develop targeted strategies for older adults, especially women, to reduce the disease burden. Effective policies to address high fasting plasma glucose and smoking can mitigate MASLD's impact.</p>","PeriodicalId":13662,"journal":{"name":"Internal and Emergency Medicine","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143523354","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Ultrasonographic assessment of gastric and gallbladder dynamics in human health and disease.","authors":"Agostino Di Ciaula, Mohamad Khalil, Piero Portincasa","doi":"10.1007/s11739-025-03905-7","DOIUrl":"https://doi.org/10.1007/s11739-025-03905-7","url":null,"abstract":"<p><p>The diagnosis of functional disorders of the upper gastrointestinal tract relies on clinical evaluation after exclusion of most frequent organic diseases. Diagnostic techniques contribute to better characterization of disease, choice of specific therapy, and follow-up. Functional ultrasonography was introduced in the early '80 s for the non-invasive study of gastric and gallbladder emptying without ionizing radiation, during fasting and postprandially. This technique detects dysfunctional motility in several gastrointestinal and systemic conditions, and can be used along with the assessment of real-time satiety and gastrointestinal symptoms after food ingestion, and dosing of hormones involved in the modulation of gastrointestinal and metabolic homeostasis. Functional ultrasonography has been increasingly used to explore the gastrointestinal pathophysiology, the gut-brain interaction, the effects of drugs (such as antidiabetics), the response to specific dietary and feeding patterns, and to support the development of nutraceuticals. In this evolving scenario, ultrasonography stands as a widely available, highly sustainable, non-invasive, repeatable, safe and low-cost tool, as compared with more expensive, less sustainable or still scarcely standardized procedures to study gastric and gallbladder motility as scintigraphy, wireless motility capsule tests, ¹³C breath tests, or magnetic resonance imaging. Functional ultrasonography not only provides reliable data in experimental protocols, but also in the assessment of clinical conditions as dyspeptic symptoms, diabetes, gastroenteric and neurological diseases, critical illness, and as a benchmark to evaluate the gastrointestinal effects of innovative drugs.</p>","PeriodicalId":13662,"journal":{"name":"Internal and Emergency Medicine","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143523259","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Association between electronic cigarette use and respiratory outcomes among people with no established smoking history: a comprehensive review and critical appraisal.","authors":"Arielle Selya, Giusy Rita Maria La Rosa, Lucia Spicuzza, Jaymin B Morjaria, Grazia Caci, Riccardo Polosa","doi":"10.1007/s11739-025-03894-7","DOIUrl":"https://doi.org/10.1007/s11739-025-03894-7","url":null,"abstract":"<p><p>Nicotine consumption in many countries is shifting away from combustible cigarettes and toward electronic cigarettes (ECs). Understanding the overall population-level impact requires weighing their possible benefits (e.g., for smoking cessation/switching) vs harms (e.g., long-term health risks). However, current evidence on health risks is limited by the absence of long-term data and confounding by prior cigarette smoking history. Focusing on short- to medium-term respiratory outcomes associated with EC use among people who never smoked (PWNS) is informative. We perform a narrative review and critical appraisal of studies examining the prospective association between exclusive EC use and respiratory outcomes among PWNS (either true never-smoking or never-established smoking). We included 12 studies with prospective designs that examine a range of respiratory outcomes subsequent to EC use among PWNS. Eight studies did not find statistically significant differences in respiratory risk associated with baseline EC use. The remaining five studies reported a significant association in at least one analysis, but in four of these studies, associations were not robust across models. Limitations included overreliance on data from the U.S. Population Assessment of Tobacco and Health, uncertain directionality (i.e., pre-existing respiratory conditions were not always ruled out), confounding by other combustible tobacco use, and small sample sizes. All but one study lacked clear and statistically significant evidence of self-reported respiratory diagnoses associated with EC use among PWNS, or showed a tenuous association with mild respiratory symptoms. This has favorable implications for ECs' population health impact; however, small sample sizes and statistical biases limit this evidence. A formal systematic review on this topic is forthcoming.</p>","PeriodicalId":13662,"journal":{"name":"Internal and Emergency Medicine","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-02-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143483087","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Added value of inflammatory markers to vital signs for predicting mortality in patients with suspected infection: external validation and model development: comment.","authors":"Cengiz Beyan","doi":"10.1007/s11739-025-03900-y","DOIUrl":"https://doi.org/10.1007/s11739-025-03900-y","url":null,"abstract":"","PeriodicalId":13662,"journal":{"name":"Internal and Emergency Medicine","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143467984","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Demographic and regional trends in systemic and cardiovascular amyloidosis-related mortality among older adults in the United States from 1999 to 2020.","authors":"Jasninder Singh Dhaliwal, Fatima Hussain, Hamza Ahmed, Abeer T M A Khan, Abdullah Aslam Khan, Maha Asghar Memon, Maha Arshad, Sayed Maisum Mehdi, Anum Touseef Hussain, Ayesha Ali Rind, Syeda Umbreen Munir, Bilal Ali, Kashaf Nadeem, Ahmed Mustafa Rashid","doi":"10.1007/s11739-025-03893-8","DOIUrl":"https://doi.org/10.1007/s11739-025-03893-8","url":null,"abstract":"<p><p>Despite therapy advancements, amyloidosis mortality rates for older adults (aged ≥ 65) are rising. This study analyzes trends in amyloidosis-related mortality among older adults in the U.S. We conducted a cross-sectional analysis of death certificates from the CDC WONDER database for amyloidosis-related deaths from 1999 to 2020. Age-adjusted mortality rates (AAMRs) per 100,000 persons and annual percent change (APC) were calculated by age, race/ethnicity, urban-rural classification, and region. From 1999 to 2020, AAMR for amyloidosis in older adults (aged ≥ 65) in the U.S. increased from 2.7 to 5.6. Men consistently had higher AAMRs than women (men: 3.7 vs. women: 2.2 in 1999; men: 8.5 vs. women: 3.5 in 2020). In 2020, Non-Hispanic Blacks had the highest AAMR at 11.8, with an APC of 19.8 (95% CI 10.5-25.5). Regional differences were notable, with AAMRs highest in the Northeast (6.9) and lowest in the South (4.2). Large metropolitan areas had a higher AAMR (6.3) than non-metropolitan areas (4.6). Cardiac amyloidosis accounted for 68.8% of deaths, with AAMR rising from 1.7 to 4.2. There has been a significant increase in AAMRs for amyloidosis in the U.S. from 1999 to 2020, particularly among males, Non-Hispanic Blacks, and those in large metropolitan and Northeast areas. These findings stress the need for enhanced prevention and treatment strategies for older adults.</p>","PeriodicalId":13662,"journal":{"name":"Internal and Emergency Medicine","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143467987","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Optimal hemoglobin threshold for blood transfusions in sepsis and septic shock: a retrospective analysis.","authors":"Chairat Permpikul, Jakpanee Tanksinmankhong, Surat Tongyoo, Thummaporn Naorungroj, Tanuwong Viarasilpa, Khemajira Karaketklang","doi":"10.1007/s11739-025-03889-4","DOIUrl":"https://doi.org/10.1007/s11739-025-03889-4","url":null,"abstract":"<p><p>Transfusions of red blood cells (RBCs) are crucial for improving tissue oxygenation in anemic patients with sepsis. Nevertheless, the debate continues over the ideal hemoglobin level for transfusions. This study aimed to assess the impact of different hemoglobin levels on the outcomes of patients with sepsis who received transfusions. This retrospective analysis included adult patients with sepsis treated in the general medical ward and intensive care unit at a University affiliate hospital. Patients needing RBC transfusions were included. The primary outcome was the 28-day mortality rate. From March 2018 to January 2022, 806 patients were studied. Of these, 480 (59.6%) were transfused at hemoglobin levels of 7-9 g/dL (\"liberal group\"), while 326 (40.4%) received RBC transfusions when their hemoglobin was < 7 g/dL (\"restrictive group\"). Mean hemoglobin levels at transfusion were 8.1 ± 0.8 g/dL and 6.3 ± 0.8 g/dL for each group, respectively(P < 0.001). On day 28, the liberal group had a mortality rate of 51.2% (246 patients), compared to 59.2% (193 patients) in the restrictive group (Odds ratio [OR] 0.88, 95% confidence interval [CI] 0.79-0.98, P = 0.031). Adjusted comparisons showed 46.8% mortality in the liberal group (141/301patients) versus 59.3% in the restrictive group (178/300patients) at 28 days (OR 0.78, 95% CI 0.66-0.92, P = 0.002). Multivariate analysis revealed transfusion at hemoglobin 7-9 g/dL as an independent variable linked to lower 28-day mortality (OR 0.70, 95% CI 0.49-0.99, P = 0.042). Other factors correlated with 28-day mortality were platelet counts ≤ 150 × 10³/µL, albumin ≤ 2.5 g/dL, shock, mechanical ventilation, and renal replacement therapy. This retrospective study suggests that RBC transfusion at hemoglobin levels of 7-9 g/dL associates with lower 28-day mortality in sepsis patients compared to transfusion at hemoglobin levels below 7 g/dL.Clinical trial registrationThe study was registered with the Thai Clinical Trials Registry (identification number TCTR20231003003). ( https://www.thaiclinicaltrials.org/show/TCTR20231003003 ).</p>","PeriodicalId":13662,"journal":{"name":"Internal and Emergency Medicine","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143467993","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The chick embryo chorioallantoic membrane as an experimental model to study immune checkpoint inhibitors.","authors":"Domenico Ribatti","doi":"10.1007/s11739-025-03904-8","DOIUrl":"https://doi.org/10.1007/s11739-025-03904-8","url":null,"abstract":"","PeriodicalId":13662,"journal":{"name":"Internal and Emergency Medicine","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143448906","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}