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Lipoprotein(a)-Lowering Drugs: A Mini Review. 降低脂蛋白(a)的药物:综述。
IF 1.6 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-04-01 Epub Date: 2025-04-11 DOI: 10.14740/jocmr6196
Masato Hamasaki, Kazuhiko Kotani

Lipoprotein(a) (Lp(a)) is a type of lipoprotein consisting of low-density lipoprotein with apoprotein(a) (apo(a)) and is a risk factor for cardiovascular disease (CVD). Lowering Lp(a) levels may improve CVD outcomes, but this has been challenging owing to the unique structure and metabolic pathway of Lp(a). Recently, several new treatments using apo(a)-targeting drugs have been developed to reduce Lp(a) levels. Here, we briefly summarize the treatments, including earlier attempts at reducing Lp(a). Some lipid-lowering drugs can reduce Lp(a) levels in a non-targeted manner; while the effect of statins varies, niacin and proprotein convertase subtilisin/kexin type 9 inhibitors exhibit a reduction of over 20% in Lp(a) levels. Estrogen-related drugs and certain supplements can reduce Lp(a) levels, which may promote a deeper understanding of the modulation of Lp(a) levels. An apo(a) antisense oligonucleotide, small interfering RNAs, and a small molecule Lp(a)-formation inhibitor have recently been developed as promising drugs that specifically reduce Lp(a) levels by approximately 80%. The treatment strategies for Lp(a) are set to be updated, although we are awaiting clinical evidence on the reduction of CVD events by new treatments and the effective threshold for Lp(a) levels for the prevention of CVD.

脂蛋白(a) (Lp(a))是一种由低密度脂蛋白和载脂蛋白(a) (apo(a))组成的脂蛋白,是心血管疾病(CVD)的危险因素。降低Lp(a)水平可能改善CVD结果,但由于Lp(a)独特的结构和代谢途径,这一直具有挑战性。最近,一些新的治疗方法利用载脂蛋白(a)靶向药物来降低Lp(a)水平。在这里,我们简要地总结了治疗方法,包括早期降低Lp(a)的尝试。一些降脂药物可以非靶向方式降低Lp(a)水平;虽然他汀类药物的作用各不相同,但烟酸和蛋白转化酶枯草杆菌素/ keexin 9型抑制剂的Lp(a)水平降低了20%以上。雌激素相关药物和某些补充剂可以降低Lp(a)水平,这可能促进对Lp(a)水平调节的更深层次的理解。载脂蛋白(a)反义寡核苷酸、小干扰rna和小分子Lp(a)形成抑制剂最近被开发为有前景的药物,可特异性降低Lp(a)水平约80%。尽管我们正在等待新的治疗方法减少CVD事件的临床证据和预防CVD的Lp(a)水平的有效阈值,但Lp(a)的治疗策略将会更新。
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引用次数: 0
Evaluating Postural Sway in the Elderly Using Inertial Measurement Units: A Study on Center of Mass Measurements via Accelerometers and Gyroscopes. 用惯性测量单元评估老年人体位摇摆:利用加速度计和陀螺仪测量质心的研究。
IF 1.6 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-04-01 Epub Date: 2025-04-11 DOI: 10.14740/jocmr6184
Siriphan Kongsawasdi, Pummarirat Bunjan, Molthicha Wongjak, Witchayaphorn Saenmueng, Kittichai Wantanajittikul

Background: Assessment of center of mass (COM) changes during static stance control has practical implications in clinical settings, notably among older adults. Recently portable and wearable devices, including accelerometers and gyroscopes, have emerged as a promising alternative to traditional clinical and laboratory assessments. The objectives of the study were to evaluate COM postural sway parameters derived from accelerometer and gyroscope data during static balance tasks with varying bases of support in healthy elderly individuals, and to examine the correlation and agreement between accelerometer-based and gyroscope-based parameters in postural sway assessment.

Methods: One hundred and fourteen healthy elderly individuals who had not experienced falls within the preceding 6 months and were confirmed to have no risk of falling as determined by the timed up and go test, were included in this study. They were evaluated for postural sway while standing, using the sensor securely with a belt attached to the L5 vertebra. The four-stage balance test, including standing in a double stance (SO), semi-tandem stance (STO), tandem stance (TO), and single-leg stance (SL), was employed to assess each participant's ability to maintain balance under increasingly challenging standing positions on a stable surface.

Results: The study demonstrated that COM posture sway increased with a demanding position and a decreasing base of support. Spearman's rho correlation coefficients from the anteroposterior and mediolateral planes exhibited strong correlation (0.75 - 0.9). Moderate reliability was observed for both the accelerometer and gyroscope parameters in both planes (intraclass correlation coefficient: 0.5 and 0.75).

Conclusions: Accelerometry and gyroscopes provide objective quantification of balance that have the potential to be utilized in conjunction with clinical tests to effectively evaluate the risk of falling.

背景:评估静止姿态控制时的重心(COM)变化在临床环境中具有实际意义,特别是在老年人中。最近,便携式和可穿戴设备,包括加速度计和陀螺仪,已经成为传统临床和实验室评估的一个有前途的替代方案。本研究的目的是评估健康老年人在不同支撑基础的静态平衡任务中由加速度计和陀螺仪数据得出的COM姿势摇摆参数,并检查基于加速度计和陀螺仪的姿势摇摆评估参数之间的相关性和一致性。方法:选取114名健康老年人,在6个月内未发生跌倒,经定时up and go试验确认无跌倒风险。他们在站立时评估姿势摇摆,将传感器与连接在L5椎体上的皮带安全地使用。通过四阶段的平衡测试,包括双站(SO)、半双人站(STO)、双人站(TO)和单腿站(SL),来评估每个参与者在稳定的表面上越来越具有挑战性的站立姿势下保持平衡的能力。结果:研究表明,随着体位要求的增加和支撑基础的减少,COM姿势的摇摆会增加。正位面和中外侧面的Spearman’s rho相关系数表现出较强的相关性(0.75 ~ 0.9)。两个平面上加速度计和陀螺仪参数的可靠性均为中等(类内相关系数分别为0.5和0.75)。结论:加速度计和陀螺仪提供了平衡的客观量化,有可能与临床试验结合使用,有效地评估跌倒的风险。
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引用次数: 0
Relative, Conditional, and Overall Survival and Causes of Death in Patients With Glioblastoma: A Retrospective Longitudinal Cohort Study. 胶质母细胞瘤患者的相对、条件和总生存率及死亡原因:一项回顾性纵向队列研究
IF 1.6 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-04-01 Epub Date: 2025-04-11 DOI: 10.14740/jocmr6192
Khaled Saad, Anas Elgenidy, Eman F Gad, Yasser Hamed, Amir Aboelgheet, Mazen M Zidan, Nada A Alsayed, Mohammad Alzu'bi, Ahmed A Abdelfattah, Marwan H Abdulrahim, Shady Sapoor, Doaa Ali Gamal, Usama El-Shokhaiby, Hassan Ahmed Hashem, Amira Elhoufey, Thamer A M Alruwaili, Hoda Atef Abdelsattar Ibrahim, Kawashty Ragab Mohamed, Khalid Hashim Mahmoud, Mohamad-Hani Temsah, Sandra Ahmed

Background: Our goal in this manuscript was to perform a survival analysis and understand the causes of death (CODs) in patients with glioblastoma using the Surveillance, Epidemiology, and End Results (SEER) database.

Methods: A retrospective cohort study was conducted using version 8.3.9.2 of SEER*Stat software to extract data from the SEER 17 Plus database. Patients with World Health Organization (WHO) grade IV glioblastoma diagnosed between 2000 and 2019 were included to calculate overall survival (OS), relative survival (RS), and conditional survival. R software was used to calculate univariate and multivariate Cox regression models for age, sex, and race to identify their effect on survival.

Results: We included 45,071 patients with grade IV glioblastoma according to WHO 2016 classification. The observed 1-year, 3-year, and 5-year survival rates showed a decline to 40.1%, 9.8%, and 5.2%, respectively. Similarly, the relative 1-year, 3-year, and 5-year survival rates were 40.7%, 10.2%, and 5.4%, respectively. The conditional 3-year survival rates improved up to 16.9%, 42.9%, and 60.2% after 1, 3, and 5 years of survival, correspondingly, with females showing better estimates. The most common cancer CODs were the brain and other central nervous system (CNS) cancers. Among non-glioblastoma cancer CODs, breast cancer was the most common cause. Additionally, cardiovascular diseases, cerebrovascular diseases, and septicemia were the most common non-cancer CODs.

Conclusion: In this study, patients with glioblastoma showed a sharp decline in OS and RS over time after diagnosis. However, there was a notable improvement in conditional 3-year survival over time. Cardiovascular diseases emerged as the most common non-cancer COD, with lower survival rates in males and advanced age.

背景:我们这篇论文的目的是利用监测、流行病学和最终结果(SEER)数据库对胶质母细胞瘤患者进行生存分析并了解死亡原因(CODs)。方法:采用8.3.9.2版本的SEER*Stat软件进行回顾性队列研究,从SEER 17 Plus数据库中提取数据。纳入2000年至2019年间诊断为世界卫生组织(WHO) IV级胶质母细胞瘤的患者,以计算总生存期(OS)、相对生存期(RS)和条件生存期。使用R软件计算年龄、性别和种族的单因素和多因素Cox回归模型,以确定其对生存率的影响。结果:我们纳入了45,071例根据WHO 2016分级的IV级胶质母细胞瘤患者。观察到1年、3年和5年生存率分别下降到40.1%、9.8%和5.2%。同样,1年、3年和5年的相对生存率分别为40.7%、10.2%和5.4%。在1年、3年和5年后,条件3年生存率分别提高到16.9%、42.9%和60.2%,雌性的存活率更高。最常见的癌症cod是脑部和其他中枢神经系统(CNS)癌症。在非胶质母细胞瘤癌症CODs中,乳腺癌是最常见的原因。此外,心血管疾病、脑血管疾病和败血症是最常见的非癌症CODs。结论:在本研究中,胶质母细胞瘤患者在诊断后,随着时间的推移,OS和RS急剧下降。然而,随着时间的推移,有条件的3年生存率有显著提高。心血管疾病成为最常见的非癌症性COD,男性和高龄患者的生存率较低。
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引用次数: 0
Examining the Role of Corticosteroids in the Management of Acute Interstitial Pneumonia: A Systematic Review. 检查皮质类固醇在急性间质性肺炎治疗中的作用:一项系统综述。
IF 1.6 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-04-01 Epub Date: 2025-04-05 DOI: 10.14740/jocmr6186
Carlos Valladares, Aalia Narvel, Bianna Koutsenko, Alexa Simonetti, Fatima Mossolem, Alexis Chow, Samrat Gollapudi, Usmaan Al-Shehab, Nicholas Averell, Katherine Chiapaikeo-Poco, Adam Kaplan

Background: Acute interstitial pneumonia (AIP), also known as Hamman-Rich syndrome, is a rapidly progressive interstitial lung disease. In addition to being challenging to diagnose, AIP is also difficult to treat. The mortality rate of AIP is greater than 70% due to the disease's rapid progression. Furthermore, survivors are likely to develop chronic interstitial lung disease as a sequela. Treatment primarily focuses on supportive care, which consists of oxygenation through mechanical ventilation, administration of broad-spectrum antibiotics, and the use of corticosteroids. Although the use of steroids as empiric treatment is controversial and results on its mortality benefit are variable, some studies have shown high-dose pulse steroid therapy to be associated with better health outcomes. This review aimed to evaluate cases of AIP to better understand the role of corticosteroids in the management plan of these cases.

Methods: A systematic review was conducted using the Preferred Reporting Items for Systematic reviews and Meta-Analyses (PRISMA) 2020 guidelines. Outcomes of interest included patient age, sex, autoimmune condition, corticosteroid use, survival or expiration of patients, and time from hospitalization to expiration.

Results: Initial querying of the five databases yielded 376 articles. Following a thorough review, only 30 articles remained, comprising 42 patient cases. Of these cases, 62% of the patients survived, 36% expired, and 2% were unknown. The average stay from hospitalization to death was 20.2 days, and corticosteroid pulse doses were used as a first- or second-line treatment in 31% of patients.

Conclusion: The limitations of the evidence used in this study highlight the need for a greater output of higher-level evidence in the form of controlled trials and retrospective studies to help further elucidate the proper role and dosage of corticosteroids in the management plan of AIP with the ultimate goal of enhancing clinical decision-making and patient care. The findings of this systematic review, primarily based on observational data from case reports, highlight the critical need for treatment guidelines for this condition. The compilations of these cases also illustrated the diverse strategies employed by clinicians globally to save patients afflicted by this condition. While specific recommendations cannot be made based solely on these results, we anticipate that this comprehensive overview of varied clinical approaches from around the world will serve as a valuable resource for healthcare providers navigating the complexities of managing this condition.

背景:急性间质性肺炎(AIP),又称哈曼-里奇综合征,是一种快速进展的间质性肺疾病。除了诊断具有挑战性外,AIP也难以治疗。由于病情进展迅速,AIP的死亡率大于70%。此外,幸存者很可能发展成慢性间质性肺疾病的后遗症。治疗主要侧重于支持性护理,包括通过机械通气进行氧合,给予广谱抗生素和使用皮质类固醇。尽管使用类固醇作为经经性治疗存在争议,其死亡率益处的结果也不尽相同,但一些研究表明,大剂量脉冲类固醇治疗与更好的健康结果相关。本综述旨在评估AIP病例,以更好地了解皮质类固醇在这些病例的治疗计划中的作用。方法:采用系统评价和荟萃分析首选报告项目(PRISMA) 2020指南进行系统评价。研究的结局包括患者的年龄、性别、自身免疫状况、皮质类固醇的使用、患者的生存或到期,以及从住院到到期的时间。结果:对5个数据库进行初步查询,得到376篇文章。经过彻底审查,只剩下30篇文章,包括42例患者病例。在这些病例中,62%的患者存活,36%的患者死亡,2%的患者未知。从住院到死亡的平均住院时间为20.2天,31%的患者使用皮质类固醇脉冲剂量作为一线或二线治疗。结论:本研究所使用证据的局限性表明,需要以对照试验和回顾性研究的形式提供更多更高水平的证据,以帮助进一步阐明皮质类固醇在AIP管理计划中的适当作用和剂量,最终目的是提高临床决策和患者护理水平。这一系统综述的发现主要基于病例报告的观察性数据,强调了对这种疾病的治疗指南的迫切需要。这些病例的汇编也说明了全球临床医生为拯救受这种疾病折磨的患者所采用的各种策略。虽然不能仅根据这些结果提出具体的建议,但我们预计,对来自世界各地的各种临床方法的全面概述将为医疗保健提供者提供宝贵的资源,以应对这种情况的复杂性。
{"title":"Examining the Role of Corticosteroids in the Management of Acute Interstitial Pneumonia: A Systematic Review.","authors":"Carlos Valladares, Aalia Narvel, Bianna Koutsenko, Alexa Simonetti, Fatima Mossolem, Alexis Chow, Samrat Gollapudi, Usmaan Al-Shehab, Nicholas Averell, Katherine Chiapaikeo-Poco, Adam Kaplan","doi":"10.14740/jocmr6186","DOIUrl":"https://doi.org/10.14740/jocmr6186","url":null,"abstract":"<p><strong>Background: </strong>Acute interstitial pneumonia (AIP), also known as Hamman-Rich syndrome, is a rapidly progressive interstitial lung disease. In addition to being challenging to diagnose, AIP is also difficult to treat. The mortality rate of AIP is greater than 70% due to the disease's rapid progression. Furthermore, survivors are likely to develop chronic interstitial lung disease as a sequela. Treatment primarily focuses on supportive care, which consists of oxygenation through mechanical ventilation, administration of broad-spectrum antibiotics, and the use of corticosteroids. Although the use of steroids as empiric treatment is controversial and results on its mortality benefit are variable, some studies have shown high-dose pulse steroid therapy to be associated with better health outcomes. This review aimed to evaluate cases of AIP to better understand the role of corticosteroids in the management plan of these cases.</p><p><strong>Methods: </strong>A systematic review was conducted using the Preferred Reporting Items for Systematic reviews and Meta-Analyses (PRISMA) 2020 guidelines. Outcomes of interest included patient age, sex, autoimmune condition, corticosteroid use, survival or expiration of patients, and time from hospitalization to expiration.</p><p><strong>Results: </strong>Initial querying of the five databases yielded 376 articles. Following a thorough review, only 30 articles remained, comprising 42 patient cases. Of these cases, 62% of the patients survived, 36% expired, and 2% were unknown. The average stay from hospitalization to death was 20.2 days, and corticosteroid pulse doses were used as a first- or second-line treatment in 31% of patients.</p><p><strong>Conclusion: </strong>The limitations of the evidence used in this study highlight the need for a greater output of higher-level evidence in the form of controlled trials and retrospective studies to help further elucidate the proper role and dosage of corticosteroids in the management plan of AIP with the ultimate goal of enhancing clinical decision-making and patient care. The findings of this systematic review, primarily based on observational data from case reports, highlight the critical need for treatment guidelines for this condition. The compilations of these cases also illustrated the diverse strategies employed by clinicians globally to save patients afflicted by this condition. While specific recommendations cannot be made based solely on these results, we anticipate that this comprehensive overview of varied clinical approaches from around the world will serve as a valuable resource for healthcare providers navigating the complexities of managing this condition.</p>","PeriodicalId":94329,"journal":{"name":"Journal of clinical medicine research","volume":"17 4","pages":"223-230"},"PeriodicalIF":1.6,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12045798/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144047137","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Comparative Evaluation of Risk of Death in Mechanically Ventilated Patients With COVID-19 and Influenza: A Population-Based Cohort Study. COVID-19和流感机械通气患者死亡风险的比较评估:一项基于人群的队列研究
IF 1.6 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-04-01 Epub Date: 2025-03-17 DOI: 10.14740/jocmr6189
Lavi Oud, John Garza

Background: Reports on the comparative mortality among mechanically ventilated patients with coronavirus disease 2019 (COVID-19) and influenza show conflicting findings, but studies focused largely on the early phase of the pandemic, using historical influenza comparators. We sought to examine the population-level comparative mortality among mechanically ventilated patients with COVID-19 during the latter pandemic years using contemporaneous influenza comparators.

Methods: We used a statewide dataset to identify mechanically ventilated hospitalizations aged ≥ 18 years with COVID-19 or influenza in Texas between October 2021 and March 2023. Their comparative short-term mortality (in-hospital death or discharge to hospice) was estimated using overlap propensity score weighting (primary model), entropy balance, and hierarchical logistic models.

Results: Among 22,195 mechanically ventilated hospitalizations, 19,659 (88.6%) had COVID-19 and 2,536 (11.4%) had influenza. Compared to mechanically ventilated hospitalizations with influenza, those with COVID-19 were more commonly racial or ethnic minority (49.3% vs. 48.4%) and had lower mean (standard deviation (SD)) Deyo comorbidity index (2.04 (2.03) vs. 2.53 (1.91)), but higher number of organ dysfunctions (2.60 (1.37) vs. 2.13 (1.27)), respectively. Short-term mortality among mechanically ventilated hospitalizations with COVID-19 and influenza was 49.1% vs. 20.7%. The risk of short-term mortality was attenuated but remained higher among hospitalizations with COVID-19 in the primary model (adjusted risk ratio: 1.24 (95% confidence interval (CI): 1.18 - 1.30); adjusted risk difference 8.8% (95% CI: 6.7 - 10.4)), with consistent findings in alternative models, subgroups, and sensitivity analyses.

Conclusions: Population-level short-term mortality among mechanically ventilated hospitalizations with COVID-19 has been higher than that among those with influenza during the latter years of the pandemic.

背景:关于2019冠状病毒病(COVID-19)和流感机械通气患者死亡率比较的报告显示了相互矛盾的发现,但研究主要集中在大流行的早期阶段,使用历史流感比较物。我们试图使用同期流感比较器,研究在大流行后期,COVID-19机械通气患者的人群水平比较死亡率。方法:我们使用全州范围的数据集来确定2021年10月至2023年3月期间德克萨斯州因COVID-19或流感而机械通气住院的年龄≥18岁的患者。他们的比较短期死亡率(院内死亡或出院到安宁疗护)使用重叠倾向评分加权(主要模型)、熵平衡和分层逻辑模型估计。结果:22195例机械通气住院患者中,新冠肺炎患者19659例(88.6%),流感患者2536例(11.4%)。与因流感机械通气住院的患者相比,COVID-19患者多为种族或少数民族(49.3%对48.4%),平均(标准差(SD)) Deyo合并症指数较低(2.04(2.03)对2.53(1.91)),但器官功能障碍数量较高(2.60(1.37)对2.13(1.27))。COVID-19和流感机械通气住院患者的短期死亡率分别为49.1%和20.7%。在初级模型中,COVID-19住院患者的短期死亡风险有所降低,但仍较高(调整后的风险比:1.24(95%可信区间(CI): 1.18 - 1.30);调整后的风险差异为8.8% (95% CI: 6.7 - 10.4)),在替代模型、亚组和敏感性分析中发现一致。结论:在大流行后期,COVID-19机械通气住院患者的人群水平短期死亡率高于流感患者。
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引用次数: 0
Phenotypic Variability and Hematological Characterization of β0- and β+-Thalassemia Carriers: A Comparative Study. β0-和β+-地中海贫血携带者的表型变异和血液学特征:一项比较研究
IF 1.6 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-04-01 Epub Date: 2025-04-19 DOI: 10.14740/jocmr6213
Ahmad Al Tibi, Diya Hasan, Ola M Al-Sanabra, Ghaith H Mansour, Maissa T Shawagfeh, Moath Alqaraleh, Tareq Nayef AlRamadneh, Mutaz Jamal Al-Khreisat, George J Burghel, Amid Abdelnour

Background: β-Thalassemia is a genetic disorder characterized by decreased or completely absent β-globin synthesis, leading to a spectrum of clinical manifestations. It is a major public health concern in Jordan, as in other Mediterranean countries. β-Thalassemia carriers are normally asymptomatic; nevertheless, laboratory examinations often reveal mild anemia characterized by microcytic hypochromic erythrocytes, with differences influenced by specific phenotypes. This study aimed to assess and correlate the variants among β0 and β+ phenotypes in the Jordanian population with hematological characteristics, as well as establish and determine reference values for distinguishing between the two phenotypes.

Methods: One hundred forty-five β-thalassemia carriers were recruited from various governorates in Jordan. Hematological parameters, including complete blood count (CBC) and capillary electrophoresis of hemoglobin (Hb), were evaluated in all participants. Molecular techniques, specifically polymerase chain reaction (PCR) with hybridization, were employed to identify β-thalassemia variants and classify the participants as having β0 and β+ phenotypes.

Results: Among the 145 β-thalassemia carriers, 64 (44.14%) and 81 (55.86%) had β0-thalassemia and β+-thalassemia, respectively. Participants exhibiting a cutoff value of Hb (≤ 11.0 g/dL), mean corpuscular volume (MCV) (≤ 64.0 fL), mean corpuscular hemoglobin (MCH) (≤ 19.0 pg), and hemoglobin A2 (Hb-A2) (≥ 5.00%) were classified as having the β0 phenotype. These participants demonstrated significantly lower mean Hb, MCV, MCH, and higher mean Hb-A2 than the participants with the β+ phenotype (P < 0.0001).

Conclusions: Hb, MCV, MCH, and Hb-A2 can serve as effective screening tools for predicting β0- and β+-thalassemia in the Jordanian population. These findings have important clinical implications for early diagnosis, genetic counseling, and prenatal screening of β-thalassemia.

背景:β-地中海贫血是一种遗传性疾病,其特征是β-珠蛋白合成减少或完全缺失,导致一系列临床表现。与其他地中海国家一样,这是约旦的一个重大公共卫生问题。β-地中海贫血携带者通常无症状;然而,实验室检查经常显示以小细胞低色素红细胞为特征的轻度贫血,其差异受特定表型的影响。本研究旨在评估约旦人群中β0和β+表型变异与血液学特征的相关性,并建立和确定区分这两种表型的参考值。方法:从约旦各省招募145名β-地中海贫血携带者。所有参与者的血液学参数,包括全血细胞计数(CBC)和血红蛋白毛细管电泳(Hb),均被评估。分子技术,特别是聚合酶链反应(PCR)和杂交技术,被用于鉴定β-地中海贫血变异,并将参与者分类为β0和β+表型。结果145例β-地中海贫血携带者中,β0-地中海贫血64例(44.14%),β+-地中海贫血81例(55.86%)。表现出Hb(≤11.0 g/dL)、平均红细胞体积(MCV)(≤64.0 fL)、平均红细胞血红蛋白(MCH)(≤19.0 pg)和血红蛋白A2 (Hb-A2)(≥5.00%)的参与者被归类为具有β0表型。与β+表型的参与者相比,这些参与者表现出明显较低的平均Hb、MCV、MCH和较高的平均Hb- a2 (P < 0.0001)。结论:Hb、MCV、MCH和Hb- a2可作为预测约旦人群中β0-和β+-地中海贫血的有效筛查工具。这些发现对β-地中海贫血的早期诊断、遗传咨询和产前筛查具有重要的临床意义。
{"title":"Phenotypic Variability and Hematological Characterization of β<sup>0</sup>- and β<sup>+</sup>-Thalassemia Carriers: A Comparative Study.","authors":"Ahmad Al Tibi, Diya Hasan, Ola M Al-Sanabra, Ghaith H Mansour, Maissa T Shawagfeh, Moath Alqaraleh, Tareq Nayef AlRamadneh, Mutaz Jamal Al-Khreisat, George J Burghel, Amid Abdelnour","doi":"10.14740/jocmr6213","DOIUrl":"https://doi.org/10.14740/jocmr6213","url":null,"abstract":"<p><strong>Background: </strong>β-Thalassemia is a genetic disorder characterized by decreased or completely absent β-globin synthesis, leading to a spectrum of clinical manifestations. It is a major public health concern in Jordan, as in other Mediterranean countries. β-Thalassemia carriers are normally asymptomatic; nevertheless, laboratory examinations often reveal mild anemia characterized by microcytic hypochromic erythrocytes, with differences influenced by specific phenotypes. This study aimed to assess and correlate the variants among β<sup>0</sup> and β<sup>+</sup> phenotypes in the Jordanian population with hematological characteristics, as well as establish and determine reference values for distinguishing between the two phenotypes.</p><p><strong>Methods: </strong>One hundred forty-five β-thalassemia carriers were recruited from various governorates in Jordan. Hematological parameters, including complete blood count (CBC) and capillary electrophoresis of hemoglobin (Hb), were evaluated in all participants. Molecular techniques, specifically polymerase chain reaction (PCR) with hybridization, were employed to identify β-thalassemia variants and classify the participants as having β<sup>0</sup> and β<sup>+</sup> phenotypes.</p><p><strong>Results: </strong>Among the 145 β-thalassemia carriers, 64 (44.14%) and 81 (55.86%) had β<sup>0</sup>-thalassemia and β<sup>+</sup>-thalassemia, respectively. Participants exhibiting a cutoff value of Hb (≤ 11.0 g/dL), mean corpuscular volume (MCV) (≤ 64.0 fL), mean corpuscular hemoglobin (MCH) (≤ 19.0 pg), and hemoglobin A<sub>2</sub> (Hb-A<sub>2</sub>) (≥ 5.00%) were classified as having the β<sup>0</sup> phenotype. These participants demonstrated significantly lower mean Hb, MCV, MCH, and higher mean Hb-A<sub>2</sub> than the participants with the β<sup>+</sup> phenotype (P < 0.0001).</p><p><strong>Conclusions: </strong>Hb, MCV, MCH, and Hb-A<sub>2</sub> can serve as effective screening tools for predicting β<sup>0</sup>- and β<sup>+</sup>-thalassemia in the Jordanian population. These findings have important clinical implications for early diagnosis, genetic counseling, and prenatal screening of β-thalassemia.</p>","PeriodicalId":94329,"journal":{"name":"Journal of clinical medicine research","volume":"17 4","pages":"231-239"},"PeriodicalIF":1.6,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12045796/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144036696","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Intensive Granulocyte and Monocyte Adsorptive Apheresis Plus Upadacitinib for Induction Treatment of Refractory Crohn's Disease. 强化粒细胞和单核细胞吸附分离加Upadacitinib诱导治疗难治性克罗恩病。
IF 1.6 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-04-01 Epub Date: 2025-04-05 DOI: 10.14740/jocmr6188
Satoshi Tanida, Naoto Imura, Shun Sasoh, Yoshimasa Kubota, Tesshin Ban, Tomoaki Ando, Makoto Nakamura, Takashi Joh

Case 1 involved a 34-year-old woman who had been diagnosed with Crohn's disease (CD) at 30 years old. After deciding to discontinue CD treatment, she was diagnosed with moderate flare-up of CD based on disease activity and endoscopic findings. Inadequate response was seen 7 days after starting oral prednisolone (PSL) at 30 mg/day, so combination therapy was started with intensive granulocyte and monocyte adsorptive apheresis (GMA) plus upadacitinib (UPA) at 45 mg/day. Twelve weeks after starting this combination therapy, clinical remission and endoscopic and histological improvements of the inflamed mucosa were achieved with no adverse events. Case 2 involved a 26-year-old man who had been diagnosed with CD at 13 years old. He was diagnosed with severe flare-up of CD based on disease activity and endoscopic findings due to loss of response to double doses of infliximab (IFX). Combination therapy was started with intensive GMA plus UPA at 45 mg/day. Twelve weeks after starting this therapy, clinical remission and endoscopic and histological improvements of the inflamed mucosa were achieved with no adverse events. The combination of intensive GMA plus UPA appears to have provided an effective therapeutic option for refractory CD in a patient with a 4-year history of CD and refractoriness to systemic corticosteroids, and in another patient with a 13-year history of CD and loss of response to IFX.

病例1为一名34岁女性,30岁时被诊断为克罗恩病(CD)。在决定停止乳糜泻治疗后,根据疾病活动性和内窥镜检查结果,她被诊断为乳糜泻中度发作。口服泼尼松龙(PSL) 30 mg/天后7天出现反应不足,因此开始使用强化粒细胞和单核细胞吸附采珠术(GMA)加upadacitinib (UPA) 45 mg/天的联合治疗。开始这种联合治疗12周后,临床缓解,内窥镜和组织学炎症粘膜改善,无不良事件。病例2涉及一名26岁的男子,他在13岁时被诊断为乳糜泻。根据疾病活动性和内镜检查结果,由于双剂量英夫利昔单抗(IFX)失去反应,他被诊断为严重的CD发作。联合治疗以强化GMA加45 mg/天的UPA开始。开始治疗12周后,临床缓解,内窥镜和组织学炎症粘膜改善,无不良事件发生。强化GMA加UPA的组合似乎为难治性CD患者提供了一种有效的治疗选择,该患者有4年的CD病史,对全身性皮质类固醇难治性,另一名患者有13年的CD病史,对IFX失去反应。
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引用次数: 0
Clinical Experience With Remimazolam in Neuroanesthesiology and Neurocritical Care: An Educational Focused Review. 雷马唑仑在神经麻醉学和神经危重症护理中的临床经验:一项以教育为重点的综述。
IF 1.6 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-03-01 Epub Date: 2025-03-10 DOI: 10.14740/jocmr6193
Evan McPhaden, Joseph D Tobias, Ashley Smith

Remimazolam is an ultrashort-acting benzodiazepine, approved for clinical use by the United States Food & Drug Administration in 2020. Similar to other benzodiazepines, its clinical effects of sedation, anxiolysis, and amnesia are mediated through the gamma-aminobutyric acid A (GABAA) receptor. A unique metabolic pathway via tissue esterases results in a rapid elimination, a limited context-sensitive half-life, and prompt dissipation of its effect when administration is discontinued. Preliminary clinical experience has demonstrated its efficacy in the adult and pediatric population as a primary agent for procedural sedation or as an adjunct to general anesthesia. Given its rapid onset and recovery, preliminary clinical experience has demonstrated its potential utility in neuroanesthesia including procedural sedation for neuroimaging as well as a primary agent and adjunct for general anesthesia during neurosurgical procedures including awake craniotomy. This narrative review outlines the pharmacological properties of this unique medication, reviews previous published reports of its role in neuroanesthesia and neurocritical care, and discusses dosing parameters and clinical use in this population.

Remimazolam是一种超短效苯二氮卓类药物,于2020年被美国食品和药物管理局批准用于临床。与其他苯二氮卓类药物类似,其镇静、抗焦虑和遗忘的临床作用是通过γ -氨基丁酸A (GABAA)受体介导的。通过组织酯酶的独特代谢途径导致快速消除,有限的环境敏感半衰期,并在停止给药时迅速消散其效果。初步的临床经验已经证明了它在成人和儿童人群中作为手术镇静的主要药物或作为全身麻醉的辅助药物的有效性。鉴于其起效快、恢复快,初步临床经验已证明其在神经麻醉中的潜在应用,包括神经影像学的程序性镇静,以及在神经外科手术(包括清醒开颅术)中作为全身麻醉的主要药物和辅助药物。本文概述了这种独特药物的药理学特性,回顾了先前发表的关于其在神经麻醉和神经危重症护理中的作用的报道,并讨论了该人群的剂量参数和临床应用。
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引用次数: 0
Predictive Factors for Diagnosing Diabetic Ketoacidosis or Simple Hyperglycemia in Adults With High Blood Glucose: The "1-DKA Alert" Study. 诊断成人高血糖患者糖尿病酮症酸中毒或单纯高血糖的预测因素:“1-DKA警报”研究
IF 1.6 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-03-01 Epub Date: 2025-03-11 DOI: 10.14740/jocmr6180
Wanwisa Peamyao, Thanin Lokeskrawee, Suppachai Lawanaskol, Jayanton Patumanond, Suwapim Chanlaor, Wanwisa Bumrungpagdee, Chawalit Lakdee

Background: Hyperglycemia is commonly encountered in the Emergency Departments, necessitating the differential diagnosis between diabetic ketoacidosis (DKA) and simple hyperglycemia, as the treatment and prognosis differ significantly. In clinical practice, it is essential to investigate DKA in all patients; however, the final diagnosis of actual DKA is found in only 1-5% of these cases, resulting in unnecessary costs. This study aimed to develop an application for predicting the probability of DKA in patients with capillary blood glucose levels exceeding 250 mg/dL in the Emergency Department.

Methods: This study was conducted as diagnostic prediction research, employing a retrospective observational delayed-type cross-sectional design. Data were collected from patients with capillary blood glucose levels exceeding 250 mg/dL between January and April 2023. The predictive variables were available at the time of prediction. Analysis was performed using multivariable risk ratio regression analysis, with results reported as multivariable risk ratios. The area under the receiver operating characteristic (AuROC) curve was calculated. Internal validation was performed using bootstrapping and calibration plots. An application named "1-DKA Alert" was developed to predict the probability of DKA for use in real-world clinical settings.

Results: The study included 274 adult patients, of whom 52.9% were female, with an average age of 59 years. Predictive factors for DKA included initial capillary blood glucose, type of diabetes mellitus, insulin usage, poor compliance, respiratory rate, and suspected infection. These variables were readily available in clinical practice and yielded an AuROC of 0.8777 (95% confidence interval (CI): 0.8294 - 0.9259). Bootstrapping internal validation demonstrated an AuROC of 0.8770 and a shrinkage factor of 0.991.

Conclusions: The "1-DKA Alert" demonstrates excellent discriminative ability, and the model is valid, suggesting its potential for use in clinical practice. However, further studies for external validation are necessary.

背景:高血糖是急诊科的常见病,糖尿病酮症酸中毒(DKA)与单纯性高血糖因治疗和预后有显著差异,需要鉴别诊断。在临床实践中,对所有患者的DKA进行调查是必要的;然而,最终诊断为DKA的病例仅占这些病例的1-5%,导致不必要的费用。本研究旨在开发一种应用程序,用于预测急诊科毛细血管血糖水平超过250 mg/dL的患者发生DKA的可能性。方法:本研究采用回顾性观察延迟型横断面设计进行诊断预测研究。数据收集于2023年1月至4月期间毛细血管血糖水平超过250 mg/dL的患者。预测时可获得预测变量。采用多变量风险比回归分析进行分析,结果以多变量风险比报告。计算受试者工作特性曲线下面积。使用自举和校准图进行内部验证。开发了一个名为“1-DKA警报”的应用程序,用于预测DKA在现实世界临床环境中的可能性。结果:纳入274例成人患者,其中女性占52.9%,平均年龄59岁。DKA的预测因素包括初始毛细血管血糖、糖尿病类型、胰岛素使用情况、依从性差、呼吸频率和疑似感染。这些变量在临床实践中很容易获得,AuROC为0.8777(95%可信区间(CI): 0.8294 - 0.9259)。Bootstrapping内部验证表明AuROC为0.8770,收缩因子为0.991。结论:“1-DKA警报”具有良好的判别能力,该模型是有效的,具有临床应用潜力。然而,进一步的外部验证研究是必要的。
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引用次数: 0
Differentiating Between Fibromuscular Dysplasia and Takayasu Arteritis in a Patient With Juvenile Renovascular Hypertension and Marked Hypokalemia Effectively Treated With Percutaneous Transluminal Renal Angioplasty. 经皮腔内肾血管成形术对青少年肾血管性高血压和显著低钾血症患者的纤维肌肉发育不良和高须动脉炎的鉴别
IF 1.6 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-03-01 Epub Date: 2025-03-09 DOI: 10.14740/jocmr6187
Ayako Ishii, Keisuke Okamura, Shogo Morisaki, Yasunori Momota, Akiko Yamashita, Kenta Hatsuse, Keisuke Kono, Hideto Sako, Akihiro Udo, Kenichiro Taniguchi, Tomoko Koseki, Takuro Arai, Yoshie Yodogawa, Yoshiko Oba, Shiori Hirayama, Miki Inoue, Ichiro Imamura

Renovascular hypertension (RVHT) is most commonly caused by renal artery stenosis (RAS) secondary to arteriosclerosis. Other causes of RVHT include fibromuscular dysplasia (FMD) and other rare causes, such as Takayasu arteritis (TA). A male patient in his early 20s presented with hypertension. Laboratory findings were positive for hypokalemia as well as elevations in plasma renin activity and aldosterone concentration. Plain computed tomography revealed atrophy of the right kidney, and magnetic resonance angiography revealed right RAS. A diagnosis of RVHT was suspected, and he was admitted to the cardiovascular ward. After percutaneous transluminal renal angioplasty (PTRA) to treat the right RAS, a typical course was observed with decreased blood pressure, normalizing hypokalemia, and decreased plasma renin activity and aldosterone concentration (which previously were extremely elevated). As angiography showed no remarkable arteriosclerosis of other vessels and given the patient's young age, FMD was suspected as the underlying cause of RVHT. However, the angiographic findings of RAS in the proximal renal artery and the lack of "string-of-beads" appearance were atypical for FMD. The patient had chronic inflammation, and further investigation revealed severe stenosis of the right carotid artery. The high C-reactive protein value and the thickened aortic wall in the computed tomography were the suggestive signs for TA. The patient was diagnosed with TA and started on steroid therapy. Although moderate stenosis remained after revascularization of the renal artery in this patient, hypertension improved markedly, demonstrating the effectiveness of PTRA. Given the diagnosis of TA as the underlying disease, the likelihood of recurrent RVHT due to restenosis of the renal artery remains high, and strict follow-up is thus required.

肾血管性高血压(RVHT)最常见的原因是继发于动脉硬化的肾动脉狭窄(RAS)。RVHT的其他原因包括纤维肌肉发育不良(FMD)和其他罕见原因,如高松动脉炎(TA)。20岁出头的男性患者患有高血压。实验室结果为低钾血症阳性,血浆肾素活性和醛固酮浓度升高。ct平扫显示右肾萎缩,磁共振血管造影显示右侧RAS。怀疑诊断为RVHT,他被送入心血管病房。经皮腔内肾血管成形术(PTRA)治疗右侧RAS后,典型的过程是血压降低,低血钾正常化,血浆肾素活性和醛固酮浓度降低(之前异常升高)。由于血管造影显示其他血管未见明显动脉硬化,加之患者年龄小,推测FMD为RVHT的潜在病因。然而,肾近端动脉RAS的血管造影结果和缺乏“串珠状”外观是口蹄病的不典型表现。患者有慢性炎症,进一步检查发现右颈动脉严重狭窄。高c反应蛋白值和ct显示主动脉壁增厚是TA的提示征象。患者被诊断为TA并开始类固醇治疗。尽管该患者肾动脉血运重建术后仍存在中度狭窄,但高血压明显改善,证明了PTRA的有效性。鉴于TA的诊断为基础疾病,由于肾动脉再狭窄导致RVHT复发的可能性仍然很高,因此需要严格的随访。
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引用次数: 0
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