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In Memoriam: Hugo Partsch: Phlebolylmphologist Extraordinaire 1938-2023. 悼念:Hugo Partsch:1938-2023年杰出的卟啉卟啉学家。
Pub Date : 2023-01-01
M H Witte

We are sad to report the passing but will commemorate here the life and accomplishments of Hugo Partsch, MD, formerly Professor of Dermatology at the University of Vienna and Head of the Dermatological De-partment at the Wilhelminen Hospital in Vienna.

我们对雨果-帕奇医学博士的逝世感到悲痛,但我们将在此缅怀他的一生和成就。雨果-帕奇医学博士曾任维也纳大学皮肤病学教授和维也纳威廉明宁医院皮肤科主任。
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引用次数: 0
In Memoriam: Dr. Alejandro Latorre Parra: Professor, and Passionate Lymphologist (1956-2023). 悼念亚历杭德罗-拉托雷-帕拉博士:教授,热情洋溢的淋巴学家(1956-2023 年)。
Pub Date : 2023-01-01
M H Witte

We are sad to report the passing but will commemorate here the life and accomplishments of Alejandro Latorre Parra, MD, formerly Professor of the Medicine program at the Autonomous University of Bucaramanga - UNAB Faculty of Health Sciences and Director of the Escuela Colombiana de Linfologia.

我们对亚历杭德罗-拉托雷-帕拉(Alejandro Latorre Parra)医学博士的逝世感到悲痛,但我们将在此缅怀他的生平和成就。亚历杭德罗-拉托雷-帕拉医学博士曾任布卡拉曼加自治大学(UNAB)健康科学学院医学专业教授和哥伦比亚林科学院院长。
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引用次数: 0
The Diagnosis and Treatment of Peripheral Lymphedema: 2023 Consensus Document of The International Society of Lymphology. 外周淋巴水肿的诊断和治疗:2023 年国际淋巴学会共识文件》。
Pub Date : 2023-01-01
<p><p>This International Society of Lymphology (ISL) Consensus Document is the latest revision of the 1995 Document for the evaluation and management of peripheral lymphedema (1). It is based upon modifications: [A] suggested and published following the 1997 XVI International Congress of Lymphology (ICL) in Madrid, Spain (2), discussed at the 1999 XVII ICL in Chennai, India (3), and considered confirmed at the 2000 (ISL) Executive Committee meeting in Hinterzarten, Germany (4); [B] derived from integration of discussions and written comments obtained during and following the 2001 XVIII ICL in Genoa, Italy as modified at the 2003 ISL Executive Committee meeting in Cordoba, Argentina (5); [C] suggested from comments, criticisms, and rebuttals as published in the December 2004 issue of Lymphology (6); [D] discussed in both the 2005 XX ICL in Salvador, Brazil and the 2007 XXI ICL in Shanghai, China and modified at the 2008 Executive Committee meeting in Naples, Italy (7,8); [E] modified from discussions and written comments from the 2009 XXII ICL in Sydney, Australia, the 2011 XXIII ICL in Malmo, Sweden, the 2012 Executive Committee Meetings (9); [F] discussions at the 2013 XXIV ICL in Rome, Italy, and the 2015 XXV ICL in San Francisco, USA, as well as multiple written comments and feedback from Executive Committee and other ISL members during the 2016 drafting (10); informal discussions at the XXVI ICL in Barcelona, Spain; [G] discussions at a dedicated, focused Post-Congress session at the XXVII ICL in Iguazu, Argentina (2019) followed by additional written comments from the Executive Committee and others (11); and [H] discussions and written comments from the XXVIII ICL in Athens, Greece (2021), and the XXIX ICL in Genoa, Italy (2023). The document attempts to amalgamate the broad spectrum of protocols and practices advocated worldwide for the diagnosis and treatment of peripheral lymphedema into a coordinated proclamation representing a "Consensus" of the international community based on various levels of evidence. The document is not meant to override individual clinical considerations for complex patients nor to impede clinical treatment or research progress. It is not meant to be a legal formulation from which variations could be used to describe or define medical malpractice. The Society understands that in some clinics the method of treatment derives from national standards while in others access to medical equipment, technical expertise, and supplies is limited; therefore, the suggested assessments and treatments might be impractical. Adaptability and inclusiveness do come at the price that members can rightly be critical of what they see as vagueness or imprecision in definitions, qualifiers in the choice of words ( e.g., the use of "may ... perhaps ... unclear", etc.) and mentions (albeit without endorsement) of treatment options supported by limited hard data (few randomized control trials). Most members are frustrated by the reality tha
这份国际淋巴学会(ISL)共识文件是对 1995 年外周淋巴水肿评估和管理文件(1)的最新修订。它是在以下基础上修改而成的:[A] 1997 年在西班牙马德里召开的第十六届国际淋巴大会(ICL)上提出并公布(2),1999 年在印度钦奈召开的第十七届国际淋巴大会上进行了讨论(3),2000 年在德国 Hinterzarten 召开的(ISL)执行委员会会议上确认(4);[B] 2001 年在意大利热那亚召开的第十八届国际淋巴大会期间及之后进行的讨论和书面意见的整合,2003 年在阿根廷科尔多瓦召开的 ISL 执行委员会会议上进行了修改(5);[C] 根据 2004 年 12 月出版的《淋巴学》杂志上发表的评论、批评和反驳提出 (6);[D] 2005 年在巴西萨尔瓦多举行的第 XX 届国际淋巴大会和 2007 年在中国上海举行的第 XXI 届国际淋巴大会上讨论,2008 年在意大利那不勒斯举行的执行委员会会议上修改 (7,8);[E]根据 2009 年在澳大利亚悉尼举行的第二十二届国际会议、2011 年在瑞典马尔默举行的第二十三届国际会议、2012 年执行委员会会议的讨论和书面意见修改(9);[F]2013 年在意大利罗马举行的第二十四届国际会议和 2015 年在美国旧金山举行的第二十五届国际会议上的讨论,以及执行委员会和其他 ISL 成员在 2016 年起草过程中提出的多份书面意见和反馈(10);在西班牙巴塞罗那举行的第二十六届国际会议上进行的非正式讨论;[G] 在阿根廷伊瓜苏举行的第二十七届国际会议(2019 年)上进行的专门、重点突出的会后讨论,以及执行委员会和其他方面提出的补充书面意见(11);以及[H] 在希腊雅典举行的第二十八届国际会议(2021 年)和在意大利热那亚举行的第二十九届国际会议(2023 年)上进行的讨论和提出的书面意见。本文件试图将世界范围内针对外周淋巴水肿的诊断和治疗所倡导的各种方案和实践整合成一个协调的宣言,代表了国际社会基于不同证据水平的 "共识"。该文件无意凌驾于复杂患者的个人临床考虑之上,也无意阻碍临床治疗或研究进展。它无意成为一种法律表述,可用于描述或定义医疗事故。本协会理解,在一些诊所,治疗方法源自国家标准,而在另一些诊所,医疗设备、专业技术和用品有限;因此,建议的评估和治疗方法可能不切实际。适应性和包容性确实是有代价的,因为成员们可能会对他们认为定义模糊或不精确、用词中的限定词(如使用 "可能......也许......不清楚 "等)以及提及(尽管没有认可)由有限的确凿数据(很少随机对照试验)支持的治疗方案提出批评。大多数成员对没有一种治疗方法真正经过令人满意的荟萃分析(更不用说严格的随机对照研究)这一现实感到沮丧。有鉴于此,在缺乏最佳临床试验和明确答案的情况下,在新兴技术、新方法和新发现即将出现的情况下,某种程度的不确定性、模糊性和灵活性以及对当前淋巴水肿评估和管理的不满是适当的,也是可以预期的。我们将继续努力使文件简明扼要,同时兼顾深度、广度和细节。考虑到这些因素,我们认为 2023 年版的共识囊括了 ISL 的所有成员,承认国家标准,但又高于国家标准,确定并激励未来有前景的研究领域,代表了 ISL 成员根据现有证据对如何治疗外周淋巴水肿患者的最佳判断。因此,该文件已经并应该继续在《淋巴医学》上受到质疑和讨论(如致编辑的信),最好还能在淋巴医学和相关学科的地方、国家和国际会议上继续成为热烈讨论的焦点。我们还预计,随着经验的积累以及新思想和新技术的出现,这份 "活文件 "将随着医学,特别是淋巴学的实践和概念基础的变化和进步,定期进行修订和完善。
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引用次数: 0
Diagnostic Comparability of Ratio of Tissue Dielectric Constant (TDC) Between Patients with Lipedema and Those with Lower Limb Lymphedema (LLL): A Prospective Observational Study. 脂肪性水肿患者与下肢淋巴水肿(LLL)患者组织介电常数(TDC)比值的诊断可比性:前瞻性观察研究。
Pub Date : 2023-01-01
A Tugral, Y Bakar

Lipedema is usually thought of as a dis-ease of women. Potentially diagnostic comparative data is needed between patients with lip-edema and those with lower limb lymphedema (LLL). Since there is no gold standard to diagnose lipedema, some promising modalities such as Tissue Dielectric Constant (TDC) need to be investigated among patients with lipedema and lymphedema. This study was completed with a total of 26 patients (14 lipedema, 12 LLL). Local tissue water was assessed with Moisture MeterD compact (DelfinTech, Kuopio, Finland) according to the TDC method at 300 MHz within a 2.5 mm tissue penetration depth via the following reference points: Thigh, calf (20 cm upper and lower point of knee level, respectively), and malleoli (5 cm upper point of medial malleolus). Patients with LLL showed significantly higher TDC values and interlimb TDC ratios in all affected points and unaffected malleolus points compared to patients with lipedema. No significant difference was achieved between genders with LLL in all reference points. The area under the curve (AUC) for thigh, calf, and malleolus reference points were found as 0.851 (95%CI .678-1.00), 0.801 (95% CI 0.612-0.989) and 0.786 (95%CI 0.596-0.976), respectively. Patients with LLL showed significantly higher TDC values compared to patients with lipedema, these differences should be carefully interpreted in patients with bilateral LLL and those with lipo-lymphedema.

脂肪性水肿通常被认为是女性的疾病。唇水肿患者和下肢淋巴水肿(LLL)患者之间需要潜在的诊断比较数据。由于目前还没有诊断脂肪性水肿的金标准,因此需要在脂肪性水肿和淋巴水肿患者中调查一些有前景的方法,如组织介电常数(TDC)。这项研究共有 26 名患者参加(14 名脂肪性水肿患者,12 名淋巴水肿患者)。使用 Moisture MeterD compact(DelfinTech,芬兰库奥皮奥)根据 TDC 方法,在 2.5 毫米的组织穿透深度内,通过以下参考点,以 300 兆赫的频率对局部组织水分进行评估:大腿、小腿(分别为膝关节上下 20 厘米处)和踝关节(内侧踝骨上 5 厘米处)。与脂肪性水肿患者相比,LLL 患者在所有受影响点和未受影响的踝关节点的 TDC 值和肢体间 TDC 比值明显更高。在所有参考点上,LLL 患者的性别差异并不明显。大腿、小腿和耳轮参考点的曲线下面积(AUC)分别为 0.851(95%CI 0.678-1.00)、0.801(95%CI 0.612-0.989)和 0.786(95%CI 0.596-0.976)。与脂肪性水肿患者相比,LLL 患者的 TDC 值明显较高,对于双侧 LLL 患者和脂肪性水肿患者,应仔细解释这些差异。
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引用次数: 0
Aselli Award Winner 2023: The Life and Times of a Lymphomaniac. 2023 年阿塞利奖得主:一个淋巴疯子的生活与时代》。
Pub Date : 2023-01-01
D G Jackson

Winning a scientific prize is always a welcome honor and receiving the Aselli Award in 2023 was a particularly pleasant surprise. The following text provides a brief summary of the research carried out by my group in Oxford that led to the discovery of the lymphatic endo-thelial marker LYVE-1 and its emerging role as a pivotal receptor controlling the entry of immune cells and metastatic tumor cells to lymphatic capillaries in peripheral tissues. As a basic scientist and relatively late comer to the field of lymphology, my hope is that a closer partnership of basic and clinical research will help explain the intricate workings of the lymphatics and improve the picture for patients suffering from much neglected lymphatic disorders.

获得科学奖总是令人欣喜的荣誉,而在2023年获得阿塞利奖尤其令人惊喜。我的研究小组在牛津大学开展的研究发现了淋巴内皮标志物LYVE-1,并发现它是控制免疫细胞和转移性肿瘤细胞进入外周组织淋巴毛细血管的关键受体。作为一名基础科学家和淋巴学领域的后来者,我希望基础研究和临床研究之间更紧密的合作将有助于解释淋巴管的复杂运作,并改善备受忽视的淋巴疾病患者的状况。
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引用次数: 0
Can Acupuncture be a Part of the Treatment for Breast Cancer-Related Lymphedema? A Systematic Review of the Safety and Proposed Model for Care. 针灸可以作为治疗乳腺癌相关淋巴水肿的一部分吗?安全性和建议的护理模式的系统评价。
Pub Date : 2023-01-01
J K Kim, C Loo, J S Kim, C Pranskevich, O K Gordon

Acupuncture is a potential therapy for breast cancer-related lymphedema (BCRL). Despite a recent meta-analysis on efficacy, data on acupuncture safety in BCRL are lacking. Current clinical guidelines recommend avoiding needling in the upper extremity affected by lymph node dissection. We undertook a systematic review focusing on acupuncture safety and treatment protocols in clinical trials for BCRL. Literature searches were conducted in PubMed, Ovid, CINAHL, and Cochrane library. Eight clinical trials on acupuncture for BCRL were analyzed. The Standards of Acupuncture intervention (STRICTA 2010) and Cochrane risk of bias (RoB2 2019) were applied to assess methods for acupuncture interventions within Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) framework. Quantity and severity of adverse events (AE) were reviewed. A total of 189 subjects participated in 8 clinical trials with 2965 acupuncture treatments. No serious adverse events (SAE) were reported regardless of treatment laterality or protocol, with only a single grade 2 skin infection in 2,965 total treatments (0.034%), including 1,165 bilateral and 225 ipsilateral treatments. Our comprehensive review of clinical trials of acupuncture for BCRL demonstrated no significant adverse events in 2,965 treatments, including 1,390 in the affected limb. An approach for routine integration of acupuncture into BCRL maintenance therapy is proposed.

针刺是治疗乳腺癌相关淋巴水肿(BCRL)的一种潜在疗法。尽管最近对疗效进行了荟萃分析,但缺乏针灸在BCRL中的安全性数据。目前的临床指南建议避免在淋巴结清扫影响上肢针刺。我们对BCRL临床试验中的针灸安全性和治疗方案进行了系统综述。文献检索在PubMed、Ovid、CINAHL和Cochrane图书馆进行。对针刺治疗BCRL的8项临床试验进行分析。针刺干预标准(STRICTA 2010)和Cochrane偏倚风险(RoB2 2019)应用于评估针刺干预方法在系统评价和荟萃分析(PRISMA)框架的首选报告项目。回顾不良事件(AE)的数量和严重程度。共189名受试者参与8项临床试验,共计2965种针灸疗法。无论治疗侧边或方案如何,均未报告严重不良事件(SAE),在总共2,965例治疗中(0.034%)仅发生1例2级皮肤感染,包括1165例双侧治疗和225例同侧治疗。我们对针灸治疗BCRL临床试验的综合回顾显示,在2965例治疗中没有明显的不良事件,包括1390例患肢。提出了一种将针刺与BCRL维持治疗相结合的方法。
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引用次数: 0
Underreporting and Underrepresentation of Racial and Ethnic Minority Patients in Lymphedema Clinical Trials: A Systematic Review. 淋巴水肿临床试验中少数种族和族裔患者的报告不足和代表性不足:系统回顾。
Pub Date : 2023-01-01
M J Escobar-Domingo, V P Bustos, J E Fanning, J Foppiani, E Kim, A Hernandez-Alvarez, S J Lin, D Singhal, B T Lee

The generalizability of findings from Clinical Trials (CTs) investigating lymphedema treatment modalities requires an accurate representation of the target population. This study aims to evaluate racial and ethnic reporting and representation in lymphedema CTs. A comprehensive systematic literature search was conducted during May 2023 using multiple databases, following the PRISMA guidelines. All CTs published from 2018 to 2023 were included. A total of 84 articles were included in this review, from which 6,546 participants were included in the analysis. Seventy-four (88.1%) articles addressed secondary lymphedema, of which 60 (81.1%) were related to breast cancer. Only 12 (13%) of CTs reported at some extend race or ethnicity. Of these, five (41.6%) reported race and two (16.6%) reported ethnicity according to FDA guidelines. White race had the highest pooled prevalence (80%; 95% CI 72-86%; I2=90%), followed by Black (7%; 95% CI 2- 15%; I2= 94.3%) and Asian (4%; 95% CI 1-8%; I2= 89.9%). In studies reporting ethnicity, participants were predominantly non-Hispanic (92.1%; 95% CI 90 - 94%). There is an underreporting and underrepresentation of racial and ethnic minorities among lymphedema CTs, limiting their generalizability. It is imperative to future development of strategies to enhance diversity in the study sample.

淋巴水肿治疗方法临床试验(Clinical Trials,CT)研究结果的推广性需要目标人群的准确代表性。本研究旨在评估淋巴水肿临床试验中的种族和民族报告及代表性。2023 年 5 月期间,我们按照 PRISMA 指南使用多个数据库进行了全面的系统文献检索。纳入了 2018 年至 2023 年间发表的所有 CT。本综述共纳入 84 篇文章,其中 6546 名参与者被纳入分析。74篇(88.1%)文章涉及继发性淋巴水肿,其中60篇(81.1%)与乳腺癌有关。只有 12 篇(13%)CT 报告了部分种族或民族。其中,5 篇(41.6%)根据 FDA 指南报告了种族,2 篇(16.6%)根据 FDA 指南报告了民族。白种人的汇总流行率最高(80%;95% CI 72-86%;I2=90%),其次是黑人(7%;95% CI 2-15%;I2=94.3%)和亚裔(4%;95% CI 1-8%;I2=89.9%)。在报告种族的研究中,参与者主要为非西班牙裔(92.1%;95% CI 90 - 94%)。在淋巴水肿 CT 中,少数种族和少数族裔的报告和代表性不足,限制了其普遍性。今后必须制定策略,提高研究样本的多样性。
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引用次数: 0
Defocused and Radial Shock Wave Therapy, Mesotherapy, and Kinesio Taping Effects in Patients with Lipedema: A Pilot Study. 散焦和放射状冲击波治疗、放射疗法和肌内效贴敷对脂肪水肿患者的影响:一项初步研究。
Pub Date : 2023-01-01
S Michelini, F Musa, M Vetrano, F Santoboni, S M Nusca, E Latini, D Trischitta, S Michelini, M Iosa, M C Vulpiani

The aim of this pilot study was to investigate the effects of defocused and radial shock wave therapy, mesotherapy, and kinesio taping on pain, circumferences of lower limbs, echographic/ elastosonographic pattern of subcutaneous adipose tissue (SAT), and quality of life in patients with lipedema. Fifteen women affected by lower limb lipedema in stage II were treated with shock wave therapy, mesotherapy, and kinesio taping on thighs and legs (eight sessions, twice a week). The primary outcome was pain, as assessed by Numeric Rating Scale (NRS). Secondary outcomes included the limb circumferences measurements, the SF-12 Health Survey for quality of life, the International Classification of Functioning (ICF) for disability, and echographic/ elastosonographic changes of SAT. Significant reductions of pain and circumference measurements were seen in patients at each follow up. This was associated with significant reduction of thickness, echographic pattern improvement, and increased elasticity of SAT, with consequent positive impact on the quality of life and disability reported by the patients. The results demonstrate improved clinical and functional ultrasound findings in patients affected by lipedema in the early stages of lower limbs, and this combination therapy needs to be investigated in larger populations at multiple centers to confirm the findings.

本初步研究的目的是探讨散焦和放射状冲击波治疗、放射疗法和运动贴贴对脂水肿患者疼痛、下肢周长、皮下脂肪组织(SAT)超声/弹性超声模式和生活质量的影响。15名II期下肢脂水肿患者接受冲击波疗法、化疗和大腿和腿部肌内效贴敷(8次,每周2次)。通过数字评定量表(NRS)评估,主要结局是疼痛。次要结果包括肢体周长测量、SF-12健康调查的生活质量、残疾的国际功能分类(ICF)和超声/弹性超声的SAT变化。每次随访时,患者的疼痛和周长测量都显著减少。这与厚度的显著减少、超声图像的改善和SAT弹性的增加有关,从而对患者报告的生活质量和残疾产生积极影响。结果表明,早期下肢脂水肿患者的临床和功能超声检查结果有所改善,这种联合治疗需要在多个中心的更大人群中进行研究以证实这一发现。
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引用次数: 0
Multimodal Treatment of Chylous Fistula: A Retrospective Case-Control Study. 乳糜瘘的多模式治疗:一项回顾性病例对照研究。
Pub Date : 2023-01-01
K Dalci, S Gumus, A G Saritas, H B Onan, A T Akeam, A Ulku, G Sakman

Chylous fistulas (CF) are rare surgical complications and there is no standard treatment. This study presents the treatment modalities performed on patients who developed CF over a 10-year period. During the observation period, CF developed in 29 patients, 16 of whom were women. The mean age was 55.76± 13.48. Lymphatic duct injury was mostly seen in the abdomen (58.6%) and the most common reason was nephrectomy (20.7%). Extended lymphatic dissection due to malignancy was performed in 82.7% of all cases. Chylous leakage started postoperatively on 3.78±3.94 days (range: 1-19 days). Fasting, total parenteral nutrition (TPN), and somatostatin treatment were applied to all patients, and 75.8% of the fistulas were resolved completely with medical treatment. Surgical ligation of the lymphatic canal was performed in 7 patients. One was not successful and underwent percutaneous embolization of the thoracic lymphatic leakage cavity. All fistulas were resolved in 18.18±10.4 days. The resolution time and hospital stay were significantly higher in thoracic fistulas (p=0.017; p=0.003, respectively). In addition, malignant cases had longer resolution time (32.40±28.72 vs 16.27±11.25, p=0.036) and hospital stay (35.0±29.74 vs 16.25±14.05p= 0.002 respectively) than non-malignant. There was no chylothorax, chylous ascites, or recurrence at 20.55±22.88 months follow-up. Treatment of CF with fasting, TPN, and somatostatin analogs are effective. Other interventions such as surgical ligation with or without fibrin glue and interventional radiology treatments may be considered when conservative treatments fail.

乳糜瘘(CF)是一种罕见的外科并发症,目前还没有标准的治疗方法。本研究介绍了对 10 年内出现乳糜瘘的患者所采取的治疗方法。在观察期间,29 名患者出现了乳糜瘘,其中 16 人为女性。平均年龄为(55.76±13.48)岁。淋巴管损伤多见于腹部(58.6%),最常见的原因是肾切除术(20.7%)。82.7%的病例因恶性肿瘤而进行扩大淋巴清扫。术后 3.78±3.94 天(范围:1-19 天)开始出现乳糜泻。所有患者都接受了禁食、全肠外营养(TPN)和体生长抑素治疗,75.8%的瘘管在药物治疗后完全愈合。7 名患者接受了淋巴管结扎手术。其中一名患者手术失败,接受了胸腔淋巴漏孔经皮栓塞术。所有瘘管均在 18.18±10.4 天内愈合。胸腔瘘的愈合时间和住院时间明显更长(分别为 p=0.017 和 p=0.003)。此外,恶性病例的消肿时间(32.40±28.72 vs 16.27±11.25,p=0.036)和住院时间(35.0±29.74 vs 16.25±14.05,p=0.002)均长于非恶性病例。随访 20.55±22.88 个月,无乳糜胸、乳糜腹水或复发。禁食、TPN 和体生长激素类似物治疗 CF 是有效的。当保守治疗无效时,可考虑其他干预措施,如使用或不使用纤维蛋白胶进行手术结扎和介入放射学治疗。
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引用次数: 0
Genetic Variants in Genes Correlated to the PI3K/AKT Pathway: The Role of ARAP3, CDH5, KIF11 and RELN in Primary Lymphedema. 与 PI3K/AKT 通路相关的基因变异:ARAP3、CDH5、KIF11 和 RELN 在原发性淋巴水肿中的作用。
Pub Date : 2023-01-01
M S Dundar, I Belanova, G Bonetti, V Gelanova, R Kozacikova, D Veselenyiova, A Macchia, C Micheletti, C Medori, K Donato, M Ricci, M Cestari, B Amato, C Micheletti, F Boccardo, M Dundar, M Bertelli, S Michelini

Genetic anomalies affecting lymphatic development and function can lead to lymphatic dysfunction, which could manifest as lymphedema. Understanding the signaling pathways governing lymphatics function is crucial for developing targeted diagnostic and therapeutic interventions. This study aims to characterize genetic variants in genes involved in the PI3K/AKT signaling pathway, which plays a critical role in lymphangiogenesis. 408 patients diagnosed with primary lymphedema were sequenced using a next-generation sequencing (NGS) gene panel composed of 28 diagnostic genes and 71 candidate genes. The analysis revealed six variants in genes RELN, ARAP3, CDH5, and KIF11. Five of these variants have never been reported in the literature. All these genes have been correlated to lymphatic activity and are involved in the PI3K/ AKT pathway. As the PI3K/AKT signaling pathway plays an essential role in lymphangiogenesis and lymphatic function, genetic variants in genes correlated to this pathway could lead to lymphedema. Our findings underscore the potential of the PI3K/AKT pathway in lymphedema pathogenesis, supporting the role of RELN, ARAP3, CDH5,, and KIF11 as diagnostic and therapeutic targets.

影响淋巴管发育和功能的遗传异常可导致淋巴管功能障碍,表现为淋巴水肿。了解支配淋巴管功能的信号通路对于开发有针对性的诊断和治疗干预措施至关重要。本研究旨在确定参与 PI3K/AKT 信号通路的基因的遗传变异特征,PI3K/AKT 信号通路在淋巴管生成中起着关键作用。研究人员使用由 28 个诊断基因和 71 个候选基因组成的新一代测序(NGS)基因面板对 408 名确诊为原发性淋巴水肿的患者进行了测序。分析发现了 RELN、ARAP3、CDH5 和 KIF11 基因中的六个变体。其中五个变异从未在文献中报道过。所有这些基因都与淋巴活动有关,并参与了 PI3K/AKT 通路。由于PI3K/AKT信号通路在淋巴管生成和淋巴功能中起着至关重要的作用,与该通路相关的基因变异可能会导致淋巴水肿。我们的研究结果强调了 PI3K/AKT 通路在淋巴水肿发病机制中的潜在作用,并支持将 RELN、ARAP3、CDH5 和 KIF11 作为诊断和治疗靶点。
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引用次数: 0
期刊
Lymphology
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