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Reproductive medicine: The future is now 生殖医学:未来就是现在
IF 4.7 3区 医学 Q1 MEDICINE, RESEARCH & EXPERIMENTAL Pub Date : 2024-12-01 DOI: 10.1016/j.arcmed.2024.103138
Sergio Papier , Fiamma Di Biase , Julieta Quaglia
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引用次数: 0
Developmental outcomes of very preterm infants conceived through in vitro fertilization 通过体外受精孕育的极早产儿的发育结果
IF 4.7 3区 医学 Q1 MEDICINE, RESEARCH & EXPERIMENTAL Pub Date : 2024-12-01 DOI: 10.1016/j.arcmed.2024.103136
Taylor Badger , Emma Johns , Teresa Wilson , Kathleen Groesch , Paula Diaz-Sylvester , Erin Bauer , Albert Botchway , Melanie Nielsen , Julio Ricardo Loret de Mola , Beau Batton

Objective

To compare in-hospital and neurodevelopmental (ND) outcomes between very preterm infants conceived spontaneously and those conceived utilizing in vitro fertilization (IVF).

Study Design

A 10-year retrospective study of a large regional, mixed urban and rural population was conducted. IVF conceived infants born <32 0/7 weeks gestational age (GA) were matched 1:2 to control patients who did not undergo any documented assisted reproductive technology (ART) based on GA, birth weight and gender. In-hospital and ND data were analyzed.

Results

There were 35,712 live births, including 755 (2.1%) IVF-conceived births (519 [68.7%] full term, 236 [31.3%] preterm, 33 born <32 0/7 weeks GA [14.0%] – including 27 cared for in the HSHS St. John's Hospital NICU with long-term ND data). When compared to 54 controls, these 27 very preterm IVF-conceived infants were more likely to be born to older women (OR 1.21 [1.07–1.35], p = 0.001), but other demographic data (i.e., including primigravida status, length of hospital stay, use of antenatal corticosteroids, mode of delivery, rural residency, etc.) were similar. Compared to other very preterm neonates, IVF conceived very preterm infants were less likely to receive surfactant therapy (9 [33%] vs. 34 [63%], p = 0.104). Other in-hospital outcomes were similar. Data for ND outcomes through 24 months (non-matched data due to loss to follow-up) were also similar between cohorts.

Conclusion

Infants born very preterm after IVF conception have similar in-hospital and ND outcomes when compared to other very preterm infants. This is reassuring information that can be shared with individuals considering IVF conception.
目的比较自然妊娠和体外受精妊娠极早产儿的住院和神经发育(ND)结局。研究设计进行了一项为期10年的回顾性研究,研究对象为大型区域性、城乡混合人口。根据胎龄、出生体重和性别,将32 0/7周出生的IVF婴儿与未接受任何记录的辅助生殖技术(ART)的对照患者进行1:2匹配。分析住院和ND数据。结果35,712例活产,其中ivf分娩755例(2.1%),足月519例(68.7%),早产236例(31.3%),出生及早产32 /7周33例(14.0%),其中27例在HSHS圣约翰医院新生儿重症监护病房(NICU)长期ND资料护理)。与54名对照组相比,这27名非常早产的ivf婴儿更有可能由大龄妇女所生(OR为1.21 [1.07-1.35],p = 0.001),但其他人口统计学数据(包括初移状态、住院时间、产前皮质类固醇的使用、分娩方式、农村居住等)相似。与其他极早产儿相比,IVF妊娠的极早产儿接受表面活性剂治疗的可能性更低(9[33%]比34 [63%],p = 0.104)。其他住院结果相似。24个月ND结果的数据(由于缺少随访,数据不匹配)在队列之间也相似。结论与其他早产儿相比,IVF受孕后极早产儿的住院和ND结局相似。这是可以与考虑试管婴儿受孕的个人分享的令人放心的信息。
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引用次数: 0
Clinical characteristics and outcomes of infective endocarditis in patients with cancer: A multicenter case-control study 癌症患者感染性心内膜炎的临床特点和结局:一项多中心病例对照研究
IF 4.7 3区 医学 Q1 MEDICINE, RESEARCH & EXPERIMENTAL Pub Date : 2024-11-30 DOI: 10.1016/j.arcmed.2024.103123
Gustavo Mendez-Hirata , Frida Rivera-Buendía , Eduardo Viveros-Rentería , Eric Ochoa-Hein , Patricia Cornejo-Juárez , Manlio Márquez , José Ramón Hidalgo-Dura , Yoana Leyva-López , Diana Vilar-Compte

Background

Due to increased exposure to health hazards, patients with cancer are at a higher risk of developing infective endocarditis (IE), which in turn maximizes their risk of poor outcomes. This study aimed to analyze IE events in patients with cancer and matched controls.

Methods

We conducted a retrospective case-control study in four third-level centers in Mexico City between 2006 and 2022. Patients with IE were identified; cases (patients with cancer) were matched in a 1:2 ratio with controls (patients without cancer). Baseline characteristics, factors associated with IE, and outcomes were assessed in both groups.

Results

A total of 108 patients were included (36 cases and 72 controls). After logistic regression analysis, the risk factors independently associated with IE in cases were obesity (adjusted odds ratio [aOR] 9.03, 95 % CI 1.5–51.8), surgery within six months before IE (aOR 6.23, 95 % CI 1.8–21.5), and invasive procedures within six months prior to IE (aOR 3.89, 95 % CI 1.15–13.1). Healthcare-associated IE was more common in these cases, as were systemic embolic episodes. Subjects with S. aureus IE were more prone to experience systemic embolization. There were no differences in mortality between the groups.

Conclusion

In this study, risk factors associated with the healthcare environment were more frequent in patients with IE and cancer. S. aureus was a common culprit and was associated with systemic embolization.
由于暴露于健康危害因素的增加,癌症患者发生感染性心内膜炎(IE)的风险更高,这反过来又使其预后不良的风险最大化。本研究旨在分析癌症患者和对照组的IE事件。方法2006 - 2022年在墨西哥城4个三级中心进行回顾性病例对照研究。确定IE患者;病例(癌症患者)与对照组(非癌症患者)按1:2的比例配对。对两组的基线特征、与IE相关的因素和结果进行评估。结果共纳入108例患者,其中病例36例,对照组72例。经logistic回归分析,与IE病例独立相关的危险因素为肥胖(调整比值比[aOR] 9.03, 95% CI 1.5-51.8)、IE前6个月内的手术(aOR 6.23, 95% CI 1.8-21.5)和IE前6个月内的有创手术(aOR 3.89, 95% CI 1.15-13.1)。在这些病例中,与医疗保健相关的IE更为常见,系统性栓塞发作也是如此。金黄色葡萄球菌IE患者更容易出现全身栓塞。两组之间的死亡率没有差异。结论与卫生环境相关的危险因素在IE合并癌症患者中更为常见。金黄色葡萄球菌是常见的罪魁祸首,并与全身栓塞有关。
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引用次数: 0
COVID-19 in Venezuela: Costs and challenges of management severe cases at home in a crisis setting 委内瑞拉的COVID-19:危机环境下国内重症病例管理的成本和挑战
IF 4.7 3区 医学 Q1 MEDICINE, RESEARCH & EXPERIMENTAL Pub Date : 2024-11-29 DOI: 10.1016/j.arcmed.2024.103126
David A. Forero-Peña , Fhabián S. Carrión-Nessi , Óscar D. Omaña-Ávila , Daniela L. Mendoza-Millán , Augusto Moncada-Ortega , María E. Landaeta
The humanitarian crisis in Venezuela has become an unprecedented regional emergency. Over the past decade, Venezuela's political and economic collapse has eroded the country's healthcare infrastructure and threatened the public health of the population. Shortages of medicines and health supplies, disruptions in basic services, and the emigration of health workers during this humanitarian crisis have affected access to care throughout the country, as well as the capacity of emergency services and outbreak response. During the early waves of the epidemic, COVID-19 collapsed the Venezuelan health system, leaving sentinel centers without inpatient beds and ICU space. Home-based care alternatives quickly emerged, not only for mild to moderate but also for severe and critical COVID-19 cases. Here we discuss the impact of the pandemic on the Venezuelan health system, the emergence of home-based care alternatives for severe and critical COVID-19 cases, as well as their costs and challenges, and finally, their advantages and disadvantages.
委内瑞拉的人道主义危机已成为前所未有的区域紧急情况。在过去十年中,委内瑞拉的政治和经济崩溃侵蚀了该国的医疗基础设施,并威胁到民众的公共健康。在这场人道主义危机期间,药品和保健用品短缺、基本服务中断以及保健工作者移徙影响了全国各地获得保健的机会,也影响了紧急服务和应对疫情的能力。在疫情的早期浪潮中,COVID-19使委内瑞拉的卫生系统崩溃,使哨点中心没有住院床位和ICU空间。家庭护理替代方案迅速出现,不仅适用于轻中度病例,也适用于重症和危重症病例。在这里,我们讨论了疫情对委内瑞拉卫生系统的影响,COVID-19重症和危重病例家庭护理替代方案的出现,以及这些替代方案的成本和挑战,最后讨论了它们的优缺点。
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引用次数: 0
Elevated serum and urinary secreted protein acidic and rich in cysteine levels are novel biomarkers of kidney fibrosis severity 血清和尿液中富含半胱氨酸的酸性分泌蛋白水平升高是肾脏纤维化严重程度的新型生物标志物
IF 4.7 3区 医学 Q1 MEDICINE, RESEARCH & EXPERIMENTAL Pub Date : 2024-11-28 DOI: 10.1016/j.arcmed.2024.103125
Yang-yang Niu , Ying Yu , Wen-qian Zhou , Xiao-qin Zhang , Sai-ya Zhu , Ying-ying Zhang , Xin Li , Hong-ping Shan , Jian-ying Niu , Tian-jun Guan , Chen Yu

Background

Interstitial fibrosis is the primary determinant of the progression of chronic kidney disease (CKD), and noninvasive identification of interstitial fibrosis is a major challenge. We aimed to explore the diagnostic value of secreted protein acidic and rich in cysteine (SPARC) in serum and urine in kidney fibrosis.

Methods

Single-cell transcriptome analysis was used to measure SPARC expression in healthy reference kidneys and those of patients with CKD. A total of 674 patients with CKD who underwent renal biopsy served as the training cohort (n = 322) and the validation cohort (n = 352). Serum and urinary SPARC levels were measured at the time of kidney biopsy. In vivo and in vitro models of kidney fibrosis were also used to confirm the role of SPARC.

Results

Increased SPARC expression was detected in kidney fibrosis tissues. Higher serum SPARC levels were associated with increased severity of kidney fibrosis. Moreover, the area under the receiver operating characteristic curve (AUC-ROC) (AUC 0.86) was greater for the serum SPARC level than for the urinary SPARC level and estimated glomerular filtration rate (eGFR). The combination of the serum and urinary SPARC levels and eGFR increased the AUC-ROC for predicting kidney fibrosis from 0.86 to 0.90. The diagnostic performance of serum or urinary SPARC levels was consistent in the validation cohort. In vivo and in vitro models of kidney fibrosis also confirmed the upregulation of SPARC expression.

Conclusions

Serum and urinary SPARC levels may be potential biomarkers for kidney fibrosis and may be useful for noninvasive diagnosis.
背景肾间质纤维化是慢性肾脏病(CKD)进展的主要决定因素,而肾间质纤维化的无创鉴定是一项重大挑战。我们旨在探讨血清和尿液中富含半胱氨酸的酸性分泌蛋白(SPARC)在肾脏纤维化中的诊断价值。共有 674 名接受肾活检的 CKD 患者作为训练队列(322 人)和验证队列(352 人)。肾活检时测定血清和尿液中的 SPARC 水平。体内和体外肾脏纤维化模型也用于证实 SPARC 的作用。较高的血清 SPARC 水平与肾脏纤维化的严重程度有关。此外,血清 SPARC 水平的接收器操作特征曲线下面积(AUC-ROC)(AUC 0.86)大于尿液 SPARC 水平和估计肾小球滤过率(eGFR)。将血清和尿液 SPARC 水平与 eGFR 结合使用,可将预测肾脏纤维化的 AUC-ROC 从 0.86 提高到 0.90。在验证队列中,血清或尿液SPARC水平的诊断性能是一致的。结论血清和尿液中的 SPARC 水平可能是肾脏纤维化的潜在生物标记物,可用于无创诊断。
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引用次数: 0
Laparoscopic robotic assisted surgery in reproductive medicine 生殖医学中的腹腔镜机器人辅助手术
IF 4.7 3区 医学 Q1 MEDICINE, RESEARCH & EXPERIMENTAL Pub Date : 2024-11-27 DOI: 10.1016/j.arcmed.2024.103137
Julio Ricardo Loret de Mola
Laparoscopic Robot-assisted surgery is one of the most promising and rapidly developing surgical advancements of the twenty-first century with a potential to make significant contributions to reproductive medicine and preservation of fertility. Presently, laparoscopic robotic assisted surgery is used for various benign and malignant gynecological procedures, including fertility enhancing procedures. Laparoscopic Robot-assisted surgery is superior to traditional open procedures with regards to post-surgical hospital stay and blood loss; however, the difference is comparable to laparoscopic surgery. Regarding operative times, the results have been inconsistent due to variations in surgeons’ experience. The primary drawbacks of robotic systems are their high installation and maintenance costs and historical lack of tactile feedback; however, this has been overcome by the most recent evolution of robotic systems. Along with the major advances in cancer therapy, the number of female cancer survivors of reproductive age has dramatically increased. Consequently, fertility preservation and fertility enhancement have gained more emphasis in reproductive surgery in the last decade. A broad range of surgical procedures such as tubal reanastomosis, myomectomy, treatment of deep infiltrating endometriosis, ovarian transposition, radical trachelectomy, and ovarian transplantation has been introduced to restore or preserve fertility using Laparoscopic Robot-assisted surgery. In this article, we aim to present the current applications, advantages, and disadvantages of Laparoscopic Robot-assisted surgical technology in the field of reproductive surgery, including the more recent advances of Artificial Intelligence (AI) in the field.
腹腔镜机器人辅助手术是二十一世纪最有前途、发展最迅速的外科手术之一,有望为生殖医学和生育力保护做出重大贡献。目前,腹腔镜机器人辅助手术被用于各种良性和恶性妇科手术,包括提高生育能力的手术。就术后住院时间和失血量而言,腹腔镜机器人辅助手术优于传统的开腹手术;但两者之间的差异与腹腔镜手术相当。关于手术时间,由于外科医生的经验不同,结果也不一致。机器人系统的主要缺点是安装和维护成本较高,而且历来缺乏触觉反馈;不过,机器人系统的最新发展已经克服了这一缺点。随着癌症治疗的重大进展,育龄女性癌症幸存者的人数也急剧增加。因此,在过去的十年中,生殖外科更加重视保留生育力和提高生育力。为了恢复或保留生育能力,腹腔镜机器人辅助手术被广泛应用于输卵管再吻合术、子宫肌瘤剔除术、深部浸润性子宫内膜异位症治疗、卵巢移位术、根治性输卵管切除术和卵巢移植术等手术中。本文旨在介绍腹腔镜机器人辅助手术技术目前在生殖外科领域的应用、优缺点,包括人工智能(AI)在该领域的最新进展。
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引用次数: 0
Sperm human biobanking: An overview 人类精子生物库:概述
IF 4.7 3区 医学 Q1 MEDICINE, RESEARCH & EXPERIMENTAL Pub Date : 2024-11-26 DOI: 10.1016/j.arcmed.2024.103130
Alfredo Góngora , William V. Holt , Jaime Gosálvez
The purpose of this article is to analyze in detail the advantages and disadvantages of sperm cryopreservation, focusing on the cellular and molecular changes that occur during these processes. The main issue is the cellular damage caused by ice crystal formation and osmotic imbalance, along with other secondary effects such as sperm motility and viability, as well as the acrosome reaction or oxidative stress. Another important aspect is the examination of how chromatin structure and DNA integrity affect sperm. Biochemical changes affecting enzyme activity and protein stability have also been analyzed. Finally, the article highlights emerging technologies aimed at reducing the damage caused by sperm cryopreservation, as well as the potential benefits of biobanks as an essential resource for addressing male infertility.
本文旨在详细分析精子冷冻保存的优缺点,重点关注冷冻过程中发生的细胞和分子变化。主要问题是冰晶形成和渗透失衡造成的细胞损伤,以及其他次要影响,如精子活力和存活率,以及顶体反应或氧化应激。另一个重要方面是研究染色质结构和 DNA 的完整性如何影响精子。此外,还分析了影响酶活性和蛋白质稳定性的生化变化。最后,文章重点介绍了旨在减少精子冷冻造成的损害的新兴技术,以及生物库作为解决男性不育问题的重要资源的潜在益处。
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引用次数: 0
Nutritional status and incidence of hepatocellular carcinoma in patients with compensated liver cirrhosis 代偿期肝硬化患者的营养状况和肝细胞癌发病率
IF 4.7 3区 医学 Q1 MEDICINE, RESEARCH & EXPERIMENTAL Pub Date : 2024-11-26 DOI: 10.1016/j.arcmed.2024.103127
Marlene López-Sánchez , Aleida Bautista-Santos , María del Pilar Milke-García , Aldo Allende-López , Rosalba Moreno-Alcántar , Segundo Morán

Background

Malnutrition in patients with liver cirrhosis (LC) and/or hepatocellular carcinoma (HCC) has been associated with adverse outcomes. However, there is little information on the incidence of HCC during the compensated phase of LC in relation to the nutritional status.

Aim

To evaluate the association between the incidence of HCC in compensated LC and their nutritional status.

Methods

Patients with compensated liver cirrhosis with no previous history of ascites, hepatic encephalopathy, or variceal bleeding attending the Gastroenterology outpatient service at Centro Medico Nacional Siglo XXI were included in a prospective cohort. Clinical and nutritional parameters were collected, including the Royal Free Hospital Subjective Global Assessment (RFH-SGA) as an indicator of protein-calorie malnutrition and the triceps skinfold thickness, which classified patients as having normal subcutaneous adipose tissue (SAT), above average SAT, and below average SAT. Follow-up was censored at the time of HCC diagnosis or LC decompensation.

Results

About 31/187 (16.0 %) and 22/187 (11.8 %) patients were categorized as having above- or below-average SAT at baseline, respectively. 10/187 patients (5.3 %) developed HCC during the compensated phase of LC at a median of 22 months (IQR: 10.0–36.75). A higher risk of HCC was observed in subjects below average SAT (HR: 4.064, CI 95 %: 1.012–16.317, p = 0.048). After adjusting the Cox models for age and α-fetoprotein at baseline, the statistical significance of the association between SAT and HCC was not modified.

Conclusion

These results suggest that decreased SAT may precede the diagnosis of HCC in compensated LC.
背景肝硬化(LC)和/或肝细胞癌(HCC)患者营养不良与不良预后有关。方法 将既往无腹水、肝性脑病或静脉曲张出血病史、在二十一世纪国立医学中心消化内科门诊就诊的代偿期肝硬化患者纳入前瞻性队列。研究人员收集了临床和营养参数,包括作为蛋白质-热量营养不良指标的皇家自由医院主观全面评估(RFH-SGA)和三头肌皮褶厚度,后者将患者分为皮下脂肪组织(SAT)正常、SAT高于平均水平和SAT低于平均水平。结果约有 31/187 例(16.0%)和 22/187 例(11.8%)患者在基线时分别被归类为 SAT 高于或低于平均水平。10/187(5.3%)例患者在 LC 代偿期中位 22 个月(IQR:10.0-36.75)时发展为 HCC。低于平均 SAT 的受试者发生 HCC 的风险更高(HR:4.064,CI 95 %:1.012-16.317,P = 0.048)。在根据基线时的年龄和α-胎儿蛋白对 Cox 模型进行调整后,SAT 与 HCC 之间相关性的统计学意义没有改变。
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引用次数: 0
Deficiency of miR-155 in leukemic B-cells results in cell cycle arrest and deregulation of MIR155HG/TP53INP1/CDKN1A/CCND1 network 白血病 B 细胞缺乏 miR-155 会导致细胞周期停滞和 MIR155HG/TP53INP1/CDKN1A/CCND1 网络失调
IF 4.7 3区 医学 Q1 MEDICINE, RESEARCH & EXPERIMENTAL Pub Date : 2024-11-25 DOI: 10.1016/j.arcmed.2024.103124
Elena Golovina , Juraj Kokavec , Dmitry Kazantsev , Oxana Yurikova , Martin Bajecny , Filipp Georgijevic Savvulidi , Radim Simersky , Rene Lenobel , Jorg Tost , Vit Herynek , Ludek Sefc , Marek Sebela , Pavel Klener , Zuzana Zemanova , Tomas Stopka , Karina Savvulidi Vargova

Background

Cell cycle progression and leukemia development are tightly regulated processes in which even a small imbalance in the expression of cell cycle regulatory molecules and microRNAs (miRNAs) can lead to an increased risk of cancer/leukemia development. Here, we focus on the study of a ubiquitous, multifunctional, and oncogenic miRNA-hsa-miR-155–5p (miR-155, MIR155HG), which is overexpressed in malignancies including chronic lymphocytic leukemia (CLL). Nonetheless, the precise mechanism of how miR-155 regulates the cell cycle in leukemic cells remains the subject of extensive research.

Methods

We edited the CLL cell line MEC-1 by CRISPR/Cas9 to introduce a short deletion within the MIR155HG gene. To describe changes at the transcriptome and miRNome level in miR-155-deficient cells, we performed mRNA-seq/miRNA-seq and validated changes by qRT-PCR. Flow cytometry was used to measure cell cycle kinetics. A WST-1 assay, hemocytometer, and Annexin V/PI staining assessed cell viability and proliferation.

Results

The limited but phenotypically robust miR-155 modification impaired cell proliferation, cell cycle, and cell ploidy. This was accompanied by overexpression of the negative cell cycle regulator p21/CDKN1A and Cyclin D1 (CCND1). We confirmed the overexpression of canonical miR-155 targets such as PU.1, FOS, SHIP-1, TP53INP1 and revealed new potential targets (FCRL5, ISG15, and MX1).

Conclusions

We demonstrate that miR-155 deficiency impairs cell proliferation, cell cycle, transcriptome, and miRNome via deregulation of the MIR155HG/TP53INP1/CDKN1A/CCND1 axis. Our CLL model is valuable for further studies to manipulate miRNA levels to revert highly aggressive leukemic cells to nearly benign or non-leukemic types.
背景细胞周期的进展和白血病的发生是一个受到严格调控的过程,在这个过程中,即使细胞周期调控分子和微RNA(miRNA)的表达出现微小的失衡,也会导致癌症/白血病发生风险的增加。在这里,我们重点研究了一种无处不在、多功能的致癌 miRNA-hsa-miR-155-5p(miR-155,MIR155HG),它在包括慢性淋巴细胞白血病(CLL)在内的恶性肿瘤中过度表达。然而,miR-155 如何调节白血病细胞的细胞周期的确切机制仍是广泛研究的主题。方法我们通过 CRISPR/Cas9 编辑了 CLL 细胞系 MEC-1,在 MIR155HG 基因中引入了一个短缺失。为了描述 miR-155 缺陷细胞中转录组和 miRN 组水平的变化,我们进行了 mRNA-seq/miRNA-seq 分析,并通过 qRT-PCR 验证了这些变化。流式细胞仪用于测量细胞周期动力学。WST-1检测法、血细胞计数器和Annexin V/PI染色法评估了细胞活力和增殖情况。与此同时,细胞周期负调控因子 p21/CDKN1A 和细胞周期蛋白 D1(CCND1)也出现了过表达。我们证实了典型的 miR-155 靶点如 PU.1、FOS、SHIP-1、TP53INP1 的过表达,并揭示了新的潜在靶点(FCRL5、ISG15 和 MX1)。我们的 CLL 模型对于进一步研究操纵 miRNA 水平将高侵袭性白血病细胞逆转为近似良性或非白血病类型很有价值。
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引用次数: 0
A ten-year experience with the diagnosis of von Willebrand disease in Mexico based on a cost-effective strategy 墨西哥基于成本效益战略诊断冯-威廉氏病的十年经验。
IF 4.7 3区 医学 Q1 MEDICINE, RESEARCH & EXPERIMENTAL Pub Date : 2024-11-22 DOI: 10.1016/j.arcmed.2024.103113
Jesus Hernandez-Juarez , Victor Manuel Dominguez-Reyes , Jaime Garcia-Chavez , Manuel Moreno-Hernandez , Paola Itzel Carmona-Olvera , Jose Antonio Alvarado-Moreno , Guillermo Espejo-Godinez , Julieta Espinoza-Islas , Karim Majluf-Cruz , Rodrigo Arreola-Diaz , Patricia Cruz-Puente , Guadalupe Ortiz-Torres , Berenice Sanchez-Jara , Cecilia Rodriguez-Castillejos , Rosa Elena Sosa-Camas , Patricia Gomez-Rosas , Gregorio Campos-Cabrera , Abraham Majluf-Cruz

Background

Von Willebrand disease (VWD), is the most common inherited bleeding disorder worldwide, but its diagnosis is complicated, expensive, and poorly evaluated in several countries.

Objective

To report our long-term experience with the diagnosis of VWD based on a cost-effective strategy.

Methods

We studied 802 Mexican patients, men and women, children, and adults, with clinical suspicion of VWD. The following tests were performed: blood count, bleeding time, prothrombin time, activated partial thromboplastin time, fibrinogen concentration, VWF antigen, ristocetin cofactor activity, collagen binding assay, ristocetin-induced platelet aggregation, FVIII activity, and VWF multimers analysis.

Results

VWD was diagnosed in 639 patients; 582 had type 1 VWD (91.1%). Type 2 VWD was found in 52 patients (8.1%). Type 2A was present in 25 cases (48.1%), while types 2B and 2 M accounted for 21 (40.4) and six (11.5%) cases, respectively. Type 3 VWD was present in five patients (0.8%). The mean age of patients with VWD was 25.3 years (range: 2–71) for males and 22.1 (range: 1–54) for females. The diagnosis was inconclusive in 40 cases (5.0%) and was discarded in 123 (15.3%). Blood group O was the most common among patients with VWD.

Conclusion

Using a low-cost diagnostic strategy, we confirmed that VWD is as common in Mexico as in other countries. Review of the patient's history is mandatory when VWD is suspected, although laboratory confirmation may be difficult and expensive. The consequences of a lack of accurate and timely diagnosis affect the promptness and quality of treatment.
背景:冯-威廉氏病(Von Willebrand disease,VWD)是全球最常见的遗传性出血性疾病,但在一些国家,其诊断复杂、昂贵且评估不足:方法:我们研究了 802 名墨西哥患者,其中包括男性、女性和儿童:我们对 802 名临床怀疑患有 VWD 的墨西哥男性、女性、儿童和成人患者进行了研究。进行了以下检查:血细胞计数、出血时间、凝血酶原时间、活化部分凝血活酶时间、纤维蛋白原浓度、VWF 抗原、利斯托西汀辅助因子活性、胶原蛋白结合试验、利斯托西汀诱导的血小板聚集、FVIII 活性和 VWF 多聚体分析:639名患者确诊为VWD,其中582人属于1型VWD(91.1%)。52 名患者(8.1%)发现了 2 型 VWD。2A型有25例(48.1%),2B型和2M型分别有21例(40.4%)和6例(11.5%)。3型VWD患者有5例(0.8%)。男性 VWD 患者的平均年龄为 25.3 岁(范围:2-71 岁),女性为 22.1 岁(范围:1-54 岁)。40例(5.0%)诊断结果不确定,123例(15.3%)诊断结果不确定。在 VWD 患者中,O 型血最为常见:我们采用低成本诊断策略证实,VWD 在墨西哥与其他国家一样常见。在怀疑有 VWD 的情况下,尽管实验室确诊可能比较困难且费用昂贵,但仍有必要对患者的病史进行审查。缺乏准确及时的诊断会影响治疗的及时性和质量。
{"title":"A ten-year experience with the diagnosis of von Willebrand disease in Mexico based on a cost-effective strategy","authors":"Jesus Hernandez-Juarez ,&nbsp;Victor Manuel Dominguez-Reyes ,&nbsp;Jaime Garcia-Chavez ,&nbsp;Manuel Moreno-Hernandez ,&nbsp;Paola Itzel Carmona-Olvera ,&nbsp;Jose Antonio Alvarado-Moreno ,&nbsp;Guillermo Espejo-Godinez ,&nbsp;Julieta Espinoza-Islas ,&nbsp;Karim Majluf-Cruz ,&nbsp;Rodrigo Arreola-Diaz ,&nbsp;Patricia Cruz-Puente ,&nbsp;Guadalupe Ortiz-Torres ,&nbsp;Berenice Sanchez-Jara ,&nbsp;Cecilia Rodriguez-Castillejos ,&nbsp;Rosa Elena Sosa-Camas ,&nbsp;Patricia Gomez-Rosas ,&nbsp;Gregorio Campos-Cabrera ,&nbsp;Abraham Majluf-Cruz","doi":"10.1016/j.arcmed.2024.103113","DOIUrl":"10.1016/j.arcmed.2024.103113","url":null,"abstract":"<div><h3>Background</h3><div>Von Willebrand disease (VWD), is the most common inherited bleeding disorder worldwide, but its diagnosis is complicated, expensive, and poorly evaluated in several countries.</div></div><div><h3>Objective</h3><div>To report our long-term experience with the diagnosis of VWD based on a cost-effective strategy.</div></div><div><h3>Methods</h3><div>We studied 802 Mexican patients, men and women, children, and adults, with clinical suspicion of VWD. The following tests were performed: blood count, bleeding time, prothrombin time, activated partial thromboplastin time, fibrinogen concentration, VWF antigen, ristocetin cofactor activity, collagen binding assay, ristocetin-induced platelet aggregation, FVIII activity, and VWF multimers analysis.</div></div><div><h3>Results</h3><div>VWD was diagnosed in 639 patients; 582 had type 1 VWD (91.1%). Type 2 VWD was found in 52 patients (8.1%). Type 2A was present in 25 cases (48.1%), while types 2B and 2 M accounted for 21 (40.4) and six (11.5%) cases, respectively. Type 3 VWD was present in five patients (0.8%). The mean age of patients with VWD was 25.3 years (range: 2–71) for males and 22.1 (range: 1–54) for females. The diagnosis was inconclusive in 40 cases (5.0%) and was discarded in 123 (15.3%). Blood group O was the most common among patients with VWD.</div></div><div><h3>Conclusion</h3><div>Using a low-cost diagnostic strategy, we confirmed that VWD is as common in Mexico as in other countries. Review of the patient's history is mandatory when VWD is suspected, although laboratory confirmation may be difficult and expensive. The consequences of a lack of accurate and timely diagnosis affect the promptness and quality of treatment.</div></div>","PeriodicalId":8318,"journal":{"name":"Archives of Medical Research","volume":"56 2","pages":"Article 103113"},"PeriodicalIF":4.7,"publicationDate":"2024-11-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142696083","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}
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Archives of Medical Research
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