Medical Principles and Practice最新文献

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Differentiating Cardiac Sarcoidosis from Arrhythmogenic Right Ventricular Cardiomyopathy: A Systematic Review. 鉴别心脏结节病与致心律失常性右室心肌病:一项系统综述。
IF 2.9 3区 医学
Medical Principles and Practice Pub Date : 2025-05-21 DOI: 10.1159/000546048
Hakan Hasdemir, Abdalla Abshir, Tolga Sinan Güvenç
{"title":"Differentiating Cardiac Sarcoidosis from Arrhythmogenic Right Ventricular Cardiomyopathy: A Systematic Review.","authors":"Hakan Hasdemir, Abdalla Abshir, Tolga Sinan Güvenç","doi":"10.1159/000546048","DOIUrl":"10.1159/000546048","url":null,"abstract":"<p><strong>Objective: </strong>Cardiac sarcoidosis (CS) and arrhythmogenic right ventricular cardiomyopathy (ARVC) are distinct disorders with different pathophysiologic pathways, but they share similar clinical presentations that could lead to misdiagnosis and inappropriate therapeutic decisions.</p><p><strong>Methods: </strong>We searched PubMed and Google Scholar databases and other relevant literature to retrieve comparative studies including CS and ARVC that were published before 2024. The National Heart, Lung and Blood Institute checklist was used for quality assessment and the review was conducted according to the PRISMA guidelines. Three reviewers determined study eligibility and made quality assessments.</p><p><strong>Results: </strong>A total of seven studies were included in the review. Patients with CS were older (five of seven studies) and had more comorbidities (two of two studies). PR interval (four of five studies) and QRS duration (four of four studies) were longer in CS. Most studies reported lower left ventricular ejection fraction in CS (five of six studies), and septal involvement on cardiac MRI was more common in CS (two of three studies). 18-Fluorodeoxyglucose uptake on positron emission tomography (PET) scan was seen in up to 90% of CS patients. 62.5%-100% of patients with CS fulfilled 1994 or 2010 International Task Force criteria for ARVC.</p><p><strong>Conclusions: </strong>Available evidence suggests that atrioventricular and intraventricular conduction defects in an older (>40 years) patient with low left ventricular ejection fraction should raise suspicion for CS, especially when other supportive findings, such as 18-fluorodeoxyglucose avidity on PET, were present. Neither 1994 nor 2010 ARVC Task Force criteria should be used to discriminate CS from ARVC.</p>","PeriodicalId":18455,"journal":{"name":"Medical Principles and Practice","volume":" ","pages":"1-13"},"PeriodicalIF":2.9,"publicationDate":"2025-05-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12105856/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144025717","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}
引用次数: 0
Retraction Statement. 撤销声明。
IF 2.9 3区 医学
Medical Principles and Practice Pub Date : 2025-05-07 DOI: 10.1159/000545239
{"title":"Retraction Statement.","authors":"","doi":"10.1159/000545239","DOIUrl":"https://doi.org/10.1159/000545239","url":null,"abstract":"","PeriodicalId":18455,"journal":{"name":"Medical Principles and Practice","volume":" ","pages":"1"},"PeriodicalIF":2.9,"publicationDate":"2025-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12065416/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144032264","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}
引用次数: 0
Emergency Department and COVID-19 Pandemic Stress Test: A Comparison between Two European Settings. 急诊科和COVID-19大流行压力测试:两个欧洲环境的比较。
IF 2.9 3区 医学
Medical Principles and Practice Pub Date : 2025-05-02 DOI: 10.1159/000546166
Laura Tomaino, Ilaria Roncarati, Silvia Rodríguez-Mireles, Eva Rivas-Wagner, Beatriz González López-Valcárcel, Carlo La Vecchia, Eva Negri, Valerio Di Maio, Susanna Contucci, Lorenzo Falsetti, Gianluca Moroncini, Lluís Serra-Majem
{"title":"Emergency Department and COVID-19 Pandemic Stress Test: A Comparison between Two European Settings.","authors":"Laura Tomaino, Ilaria Roncarati, Silvia Rodríguez-Mireles, Eva Rivas-Wagner, Beatriz González López-Valcárcel, Carlo La Vecchia, Eva Negri, Valerio Di Maio, Susanna Contucci, Lorenzo Falsetti, Gianluca Moroncini, Lluís Serra-Majem","doi":"10.1159/000546166","DOIUrl":"10.1159/000546166","url":null,"abstract":"<p><strong>Objective: </strong>The aim of the study was to analyze the changes in the emergency department (ED) activity of two hospitals during the 2020 lockdown and corresponding timeframes in 2019 and 2021 to assess whether a more structured primary healthcare service could have influenced the COVID-19 pressure on the ED.</p><p><strong>Subject and methods: </strong>This is a multicenter, retrospective study on adult subjects registered to the selected ED during the timeframes considered. Patients <16 years old and women with obstetric or gynecological complaints were excluded. Study period was from 9 March to 3 May for the Italian ED (55 days) and March 14 to May 10 for the Spanish ED (57 days) in 2019, 2020, and 2021. Primary outcome includes difference in the number of ED admissions. Secondary outcomes consist of differences in hospital admission rates, priority code at triage, and disease group.</p><p><strong>Results: </strong>Overall, a greater number of patients flowed through the Spanish ED (14,034 vs. 8,569 in 2019, 7,208 vs. 3,101 in 2020, and 13,214 vs. 5,555 in 2021), with smaller proportional declines and lower admission rates (13% vs. 16.9% in 2019, 19.6% vs. 34.3% in 2020, and 14.3% vs. 26.3% in 2021) observed. Most referrals were for nonemergency conditions, followed by trauma and intoxications.</p><p><strong>Conclusions: </strong>In comparison with the Italian setting, the Spanish ED showed increased activity alongside lower hospitalization rates. Further investigation is required to evaluate the potential role of more structured primary healthcare assistance in enhancing the discharge rate to homecare or primary healthcare facilities during the specified timeframes.</p>","PeriodicalId":18455,"journal":{"name":"Medical Principles and Practice","volume":" ","pages":"1-10"},"PeriodicalIF":2.9,"publicationDate":"2025-05-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12245181/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144011959","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}
引用次数: 0
Association between D-Dimer and Long-Term Major Adverse Cardiovascular Outcomes in Patients with Masked Hypertension. 隐蔽性高血压患者d -二聚体与长期主要心血管不良结局的关系
IF 2.9 3区 医学
Medical Principles and Practice Pub Date : 2025-04-26 DOI: 10.1159/000546076
Uğur Köktürk, Hamdi Püşüroğlu, İlyas Çetin, Mustafa Umut Somuncu, Mehmet Altunova, Ahmet Avcı, Mehmet Ertürk
{"title":"Association between D-Dimer and Long-Term Major Adverse Cardiovascular Outcomes in Patients with Masked Hypertension.","authors":"Uğur Köktürk, Hamdi Püşüroğlu, İlyas Çetin, Mustafa Umut Somuncu, Mehmet Altunova, Ahmet Avcı, Mehmet Ertürk","doi":"10.1159/000546076","DOIUrl":"10.1159/000546076","url":null,"abstract":"<p><strong>Objective: </strong>We investigated the relationship between D-dimer levels and long-term major adverse cardiovascular events (MACEs) in masked hypertension patients admitted to the cardiology outpatient clinic.</p><p><strong>Methods: </strong>A total of 512 masked hypertension patients with a median 6 years of follow-up data who underwent serum D-dimer measurement in the hypertension outpatient clinic between April 2014 and June 2016 were retrospectively enrolled. The patients were stratified according to their D-dimer levels and were then divided into tertiles. Clinical outcomes were assessed for MACEs, which were defined as all-cause mortality, cardiovascular mortality, nonfatal myocardial infarction, and nonfatal stroke.</p><p><strong>Results: </strong>The long-term incidence of MACE in masked hypertension patients was higher in the highest tertile of D-dimer. In multivariable analysis, D-dimer was an independent predictor of long-term MACE in masked hypertensive patients (OR: 1.006 [1.004-1.007]; p < 0.001). Compared to the lowest tertile, MACE was approximately 3 times higher in tertile 2 and approximately 10.5 times higher in the highest tertile. In addition, MACE was approximately 3.5 times more common in tertile 3 than in tertile 2. D-dimer was able to predict MACE in patients with masked hypertension (AUC for MACE 0.778; 95% CI: 0.724-0.832; p < 0.001) based on receiver operating characteristic curve analysis. In the Kaplan-Meier curve showing follow-up without MACE (MACE free) according to the D-dimer cutoff value, the long-term incidence of MACE was significantly higher in the high D-dimer group (p < 0.001).</p><p><strong>Conclusions: </strong>D-dimer levels in patients with masked hypertension showed a significant association with increased long-term risk of MACE in this study.</p>","PeriodicalId":18455,"journal":{"name":"Medical Principles and Practice","volume":" ","pages":"1-9"},"PeriodicalIF":2.9,"publicationDate":"2025-04-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12140643/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143989682","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}
引用次数: 0
Selective Serotonin Reuptake Inhibitors and Risk of Serotonin Syndrome as Consequence of Drug-Drug Interactions: analysis of The FDA Adverse Event Reporting System (FAERS). 选择性血清素再摄取抑制剂和血清素综合征的风险作为药物-药物相互作用的结果:FDA不良事件报告系统(FAERS)的分析。
IF 2.9 3区 医学
Medical Principles and Practice Pub Date : 2025-04-25 DOI: 10.1159/000546109
Alessio Novella, Chiara Elli, Luca Pasina
{"title":"Selective Serotonin Reuptake Inhibitors and Risk of Serotonin Syndrome as Consequence of Drug-Drug Interactions: analysis of The FDA Adverse Event Reporting System (FAERS).","authors":"Alessio Novella, Chiara Elli, Luca Pasina","doi":"10.1159/000546109","DOIUrl":"10.1159/000546109","url":null,"abstract":"<p><p>Background Medications exhibiting serotonergic properties, such as selective serotonin reuptake inhibitors (SSRI) antidepressants, opioids, and other antidepressants can induce as adverse reaction serotonin syndrome, a rare but potentially life-threatening adverse event. Aim This study aims to investigate the risks of serotonin syndrome among different SSRIs and assess the influence of drug-drug interactions with other medications. Methods We analyzed the suspected adverse events in the US Food and Drug Administration Adverse Event Reporting System (FAERS) database. Results We identified 13,312 reports of serotonin syndrome, 52% of which involved SSRIs (n=6,921), with ROR of 24.19. Among the safety reports involving SSRIs, 4,851 cases reported at least one severe outcome. All active substances of the SSRI group were associated with serotonin syndrome, sertraline and fluoxetine had the most reports, while fluvoxamine had the highest ROR and risk compared to all other SSRIs (ROR: 2.66, 95% confidence interval: 2.33-3.05). The combinations of SSRIs with other drugs with the most reported cases were SSRIs-antidepressants (n=2395) and SSRIs-opioids (n=2252). The combinations of SSRIs with SNRIs (ROR 25.42, omega 0.11) and 'other antidepressants' (ROR 22.74, omega 0.16) were associated with a signal for serotonin syndrome. The combination SSRIs-opioids was associated with a safety signal, particularly those with higher risk for serotonin syndrome, like tramadol and fentanyl (ROR 41.95, omega 1.25). Conclusion Close monitoring for symptoms of serotonin syndrome should be considered in patients with depression with a combination of antidepressants, and in those on SSRIs who also require linezolid, MAO inhibitors or high-risk opioids, like tramadol, or fentanyl.</p>","PeriodicalId":18455,"journal":{"name":"Medical Principles and Practice","volume":" ","pages":"1-12"},"PeriodicalIF":2.9,"publicationDate":"2025-04-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12140641/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143971811","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}
引用次数: 0
Adult Patients with HbS-Only Phenotype of Sickle Cell Disease Have a Decreased Arginine/Asymmetric Dimethylarginine Ratio. 成年hbs型镰状细胞病患者精氨酸/不对称二甲基精氨酸比例降低。
IF 2.9 3区 医学
Medical Principles and Practice Pub Date : 2025-04-23 DOI: 10.1159/000546047
Chiemelie Raluchukwu Onwasigwe, Angela Ogechukwu Ugwu, Anazoeze Jude Madu, Ikechukwu Okwudili Anigbogu, Chidiebele Michael Egolum
{"title":"Adult Patients with HbS-Only Phenotype of Sickle Cell Disease Have a Decreased Arginine/Asymmetric Dimethylarginine Ratio.","authors":"Chiemelie Raluchukwu Onwasigwe, Angela Ogechukwu Ugwu, Anazoeze Jude Madu, Ikechukwu Okwudili Anigbogu, Chidiebele Michael Egolum","doi":"10.1159/000546047","DOIUrl":"10.1159/000546047","url":null,"abstract":"<p><strong>Introduction: </strong>Leg ulcer is the most common cutaneous manifestation of sickle cell disease (SCD). Asymmetric dimethylarginine (ADMA) inhibits nitric oxide synthase, reducing nitric oxide availability, and causing endothelial dysfunction. This study examined the relationship between arginine/ADMA ratio and leg ulcers in SCD.</p><p><strong>Methods: </strong>This was a cross-sectional analytical study of 90 adult subjects including 30 \"HbS only\" with leg ulcer, 30 \"HbS only\" without leg ulcer and 30 HbAA subjects. Plasma arginine and ADMA levels were measured by ELISA method.</p><p><strong>Results: </strong>Median arginine level, ADMA level, and arginine/ADMA ratio were 21.05 µmol/L, 3.0 µmol/L, and 7.41, respectively, for HbS-only with leg ulcer; 25.9 µmol/L, 2.8 µmol/L, and 9.6, respectively, for HbS-only without leg ulcer; and 47.8 µmol/L, 1.0 µmol/L (CI: 1.0-1.2), and 48.5, respectively, for HbAA subjects. Median plasma <sc>l</sc>-arginine level was significantly lower in HbS with leg ulcer compared to HbS without leg ulcer (p < 0.001) and HbAA subjects (p < 0.001). Conversely, median plasma ADMA level was significantly higher in HbS-only with leg ulcer compared to HbS without leg ulcer (p = 0.002), and HbAA subjects (p < 0.001). Median arginine/ADMA ratio was significantly lower in HbS-only patients with leg ulcer.</p><p><strong>Conclusion: </strong>The HbS-only patients with leg ulcers have lower arginine, higher ADMA, and lower arginine/ADMA ratio when compared to those without leg ulcers and HbAA controls. The prospective arginine/ADMA ratio should be studied to screen patients with higher risks of leg ulcers that could be prevented with specifically targeted care.</p>","PeriodicalId":18455,"journal":{"name":"Medical Principles and Practice","volume":" ","pages":"1-8"},"PeriodicalIF":2.9,"publicationDate":"2025-04-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12173462/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144031368","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}
引用次数: 0
Hypertension in Czech Adults Aged 25-64: Prevalence, Awareness, Control, and Risk Factors in 2019 - A Cross-Sectional Study. 捷克25-64岁成年人的高血压:2019年的患病率、意识、控制和危险因素——一项横断面研究
IF 2.9 3区 医学
Medical Principles and Practice Pub Date : 2025-04-22 DOI: 10.1159/000545945
Arian Taniwall, Michala Lustigová, Jan Brož, Pavlína Krollová, Juraj Michalec, Kristýna Žejglicová, Jana Malinovská, Lucia Bučková, Juan P González-Rivas, Geraldo A Maranhao Neto, Iuliia Pavlovska, Martina Tuháčková, Lukáš Rozsíval, Jana Urbanová
{"title":"Hypertension in Czech Adults Aged 25-64: Prevalence, Awareness, Control, and Risk Factors in 2019 - A Cross-Sectional Study.","authors":"Arian Taniwall, Michala Lustigová, Jan Brož, Pavlína Krollová, Juraj Michalec, Kristýna Žejglicová, Jana Malinovská, Lucia Bučková, Juan P González-Rivas, Geraldo A Maranhao Neto, Iuliia Pavlovska, Martina Tuháčková, Lukáš Rozsíval, Jana Urbanová","doi":"10.1159/000545945","DOIUrl":"10.1159/000545945","url":null,"abstract":"<p><strong>Objective: </strong>This study analysed the prevalence of hypertension and its associated risk factors in Czech adults aged 25-64 using data from the 2019 European Health Examination Survey (EHES). Given the limited number of large-scale studies in Central Europe, this study provides crucial evidence to inform public health strategies. Examining gender differences and applying updated control thresholds, it provides valuable insights into hypertension management in Czechia.</p><p><strong>Subject and methods: </strong>We conducted a cross-sectional analysis using EHES 2019 data. Participants underwent a medical examination assessing cardiovascular health, including blood pressure and blood tests. A total of 1,056 participants were included, aged 25-64 years (mean age of 44.4 ± 0.73) years and with a mean BMI of 27.6 ± 0.35 kg/m2. Hypertension was defined as systolic blood pressure and/or diastolic blood pressure (mean of the second and the third measurements, 1 min apart) ≥140/90 mm Hg and/or current antihypertensive treatment. Awareness was determined by self-reporting prior diagnosis. Control was assessed as blood pressure <130/80 mm Hg (control 1) or <140/90 mm Hg (control 2).</p><p><strong>Results: </strong>Hypertension prevalence was 36.3%, with higher rates in males (46.0%) than in females (26.3%, p < 0.001). Awareness was 64.8% greater in females (72.0% vs. 60.9%, p = 0.027). Treatment was received by 47.6% of hypertensives, more by women (57.7% vs. 42.0%, p < 0.001). Control rates were 10.4% (control 1) and 49.4% (control 2).</p><p><strong>Conclusion: </strong>Hypertension is common in Czech adults, with gender differences in prevalence, awareness, and treatment. Despite high awareness, treatment and control remain suboptimal, indicating the need for targeted interventions.</p>","PeriodicalId":18455,"journal":{"name":"Medical Principles and Practice","volume":" ","pages":"1-11"},"PeriodicalIF":2.9,"publicationDate":"2025-04-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12148334/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143978395","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}
引用次数: 0
Xenotransplantation of Solid Organs: Revolutionizing Transplantation through Innovation, Ethics, and Global Solutions. 实体器官异种移植:通过创新、伦理和全球解决方案革新移植。
IF 2.9 3区 医学
Medical Principles and Practice Pub Date : 2025-04-22 DOI: 10.1159/000546031
Sami Alobaidi
{"title":"Xenotransplantation of Solid Organs: Revolutionizing Transplantation through Innovation, Ethics, and Global Solutions.","authors":"Sami Alobaidi","doi":"10.1159/000546031","DOIUrl":"10.1159/000546031","url":null,"abstract":"<p><p>Xenotransplantation represents a transformative solution to the global organ shortage, leveraging advances in genetic engineering, immunosuppression, and biosecurity. This review explores groundbreaking innovations such as CRISPR-Cas9 and multigene editing, which have redefined immunogenicity reduction and significantly enhanced the graft survival. Key breakthroughs, including the incorporation of human complement-regulatory proteins and α-Gal knockout strategies, have propelled xenotransplantation closer to clinical application. Ethical considerations, such as zoonotic risks and patient selection criteria, are discussed alongside international regulatory efforts to standardize safety protocols. This manuscript uniquely highlights recent preclinical and clinical achievements, such as successful pig-to-human kidney and heart transplants, which underscore the field's potential for clinical translation. By addressing current challenges, such as long-term graft viability and societal acceptance, xenotransplantation is poised to bridge critical gaps in transplantation medicine. Future directions emphasize the integration of innovative technologies and collaborative frameworks to advance clinical applications responsibly.</p>","PeriodicalId":18455,"journal":{"name":"Medical Principles and Practice","volume":" ","pages":"1-14"},"PeriodicalIF":2.9,"publicationDate":"2025-04-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12140646/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144021429","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}
引用次数: 0
Not Indolamine 2,3-Dioxygenase Polymorphisms, but Low Levels of Indoleamine 2,3-Dioxygenase and IDO2 Are Associated with Behçet's Syndrome. 与behet综合征相关的不是吲哚胺2,3双加氧酶多态性,而是低水平的IDO和IDO2
IF 2.9 3区 医学
Medical Principles and Practice Pub Date : 2025-04-14 DOI: 10.1159/000545581
Ülkü Uçar, Yağmur Aydın Atalay, Güven Özkaya, Haluk Barbaros Oral
{"title":"Not Indolamine 2,3-Dioxygenase Polymorphisms, but Low Levels of Indoleamine 2,3-Dioxygenase and IDO2 Are Associated with Behçet's Syndrome.","authors":"Ülkü Uçar, Yağmur Aydın Atalay, Güven Özkaya, Haluk Barbaros Oral","doi":"10.1159/000545581","DOIUrl":"10.1159/000545581","url":null,"abstract":"<p><strong>Objective: </strong>Behçet's syndrome (BS) is a multisystemic disorder with a complex genetic background. Indoleamine 2,3-dioxygenase (IDO) and IDO2, key enzymes in tryptophan metabolism, have immunomodulatory effects. Specific IDO and IDO2 polymorphisms may influence enzymatic activity. This study aimed to explore the association between IDO/IDO2 gene polymorphisms and BS susceptibility, and assess serum levels of IDO and IDO2 in relation to BS.</p><p><strong>Subjects and methods: </strong>Ninety patients with BS and 52 healthy controls were enrolled in this study. Predetermined single-nucleotide polymorphisms (SNPs) were studied at specific gene loci for IDO and IDO2. Serum IDO and IDO2 levels were determined using ELISA.</p><p><strong>Results: </strong>No statistically significant differences were observed in the genotype and allele frequencies of IDO (rs7820268 and rs10108662) and IDO2 (rs4503083) between patients with BS and controls. Furthermore, no significant association was found between clinical findings and SNPs, except that the IDO rs7820268 CT genotype was significantly lower in patients with neurological involvement (0% vs. 42%, p = 0.026, OR = 0.147, 95% CI = 0.18-1.231). Serum levels of IDO and IDO2 were significantly lower in BS patients compared to controls (p < 0.0000 and p < 0.0001, respectively).</p><p><strong>Conclusion: </strong>Our research revealed that the serum IDO/IDO2 levels of BS were substantially lower than those in the control group. This finding has the potential to impact IDO activity and reduce immune tolerance. No correlation was observed between IDO/IDO2 polymorphisms and most clinical findings of BS. However, the IDO rs7820268 CT genotype was significantly reduced in neuro-BS, suggesting a protective effect. Larger prospective trials are needed to further explore these findings.</p>","PeriodicalId":18455,"journal":{"name":"Medical Principles and Practice","volume":" ","pages":"1-10"},"PeriodicalIF":2.9,"publicationDate":"2025-04-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12074646/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143753358","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}
引用次数: 0
Clinical Features, Diagnostic Implications, and Outcomes of Amyotrophic Lateral Sclerosis and Myasthenia Gravis Overlap Syndrome: A Systematic Review. 肌萎缩性侧索硬化症和重症肌无力重叠综合征的临床特征、诊断意义和预后:系统综述。
IF 2.9 3区 医学
Medical Principles and Practice Pub Date : 2025-04-10 DOI: 10.1159/000545806
Yousef Hawas, Abdullah Ashraf Hamad, Mostafa Meshref, Mohamed Elbehary, Rashad G Mohamed, Ahmed Elshahat, Manar Alaa Mabrouk, Abdulqadir J Nashwan, Basem Hamdy Fouda
{"title":"Clinical Features, Diagnostic Implications, and Outcomes of Amyotrophic Lateral Sclerosis and Myasthenia Gravis Overlap Syndrome: A Systematic Review.","authors":"Yousef Hawas, Abdullah Ashraf Hamad, Mostafa Meshref, Mohamed Elbehary, Rashad G Mohamed, Ahmed Elshahat, Manar Alaa Mabrouk, Abdulqadir J Nashwan, Basem Hamdy Fouda","doi":"10.1159/000545806","DOIUrl":"10.1159/000545806","url":null,"abstract":"<p><strong>Objective: </strong>This review aimed to summarize the current evidence of reported myasthenia gravis (MG) and amyotrophic lateral sclerosis (ALS) overlap syndrome regarding clinical and laboratory features, diagnostic implications, management, outcomes, and comorbid conditions to raise awareness among healthcare providers and aid in proper care provision.</p><p><strong>Methods: </strong>Recently, a few cases of an unusual association between both diseases have been reported. PubMed, Scopus, and Web of Science were searched from inception until May 2024 to identify eligible studies. After the screening and data extraction, 20 studies with 42 cases suffering from ALS and MG were included.</p><p><strong>Results: </strong>Forty-two cases were categorized into four groups as follows: the first group had 26 cases with MG onset (age range 26-82 years) preceding ALS (age range 46-83 years). The second group had 9 cases with ALS onset (age range 34-89 years) preceding MG (age range 40-89 years). The third group comprised 5 cases of ALS with positive acetylcholine receptor antibodies but without clinical manifestations of MG. The fourth group involved 2 cases of ALS with initial ocular symptoms that were unresponsive to MG treatments.</p><p><strong>Conclusion: </strong>The onset of new ptosis or diplopia in ALS patients should prompt clinicians to consider the possibility of a coexisting condition or alternative diagnosis. Additionally, positive acetylcholine receptor antibodies alone are insufficient to diagnose MG if ALS coexists. In patients with ALS, repetitive nerve stimulation tests may be less sensitive for detecting MG. Thus, diagnosing MG in ALS patients should rely on clinical presentation and response to empirical treatment.</p>","PeriodicalId":18455,"journal":{"name":"Medical Principles and Practice","volume":" ","pages":"1-11"},"PeriodicalIF":2.9,"publicationDate":"2025-04-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12113421/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144016086","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}
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