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Genetic Variants in the Transcription Factor Network: The Impact of FOXC1, NOTCH1, RORC, FOXC2 and SOX18 in Primary Lymphedema. 转录因子网络中的遗传变异：FOXC1、NOTCH1、RORC、FOXC2和SOX18在原发性淋巴水肿中的影响
Lymphology Pub Date : 2025-01-01
V Gelanova, D Veselenyiova, R Kozacikova, I Belanova, G Bonetti, J Kaftalli, L Ferrari, A Macchia, M C Medori, K Dhuli, G Guerri, S Miertus, J Miertus, M Ricci, M Cestari, B Amato, F Boccardo, S I Michelini, S E Michelini, S Cecchin, S G Lee, V Suppiramaniam, M Bertelli, S A Michelini
{"title":"Genetic Variants in the Transcription Factor Network: The Impact of <i>FOXC1, NOTCH1, RORC, FOXC</i>2 and <i>SOX18</i> in Primary Lymphedema.","authors":"V Gelanova, D Veselenyiova, R Kozacikova, I Belanova, G Bonetti, J Kaftalli, L Ferrari, A Macchia, M C Medori, K Dhuli, G Guerri, S Miertus, J Miertus, M Ricci, M Cestari, B Amato, F Boccardo, S I Michelini, S E Michelini, S Cecchin, S G Lee, V Suppiramaniam, M Bertelli, S A Michelini","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Lymphedema is a chronic inflammatory disease caused by defective lymphatic system function or development that proceeds in ab-normal fluid drainage and edema of the peripheral tissues. This retrospective study evaluates the potential role of transcription factors in the development of primary lymphedema. We analyzed 408 Italian primary lymphedema patients for pathogenic variants in genes related to the transcription factor network. Eighteen likely pathogenic genetic variants were identified in 5 genes - <i>FOXC1, FOXC2, NOTCH1, RORC,</i> and <i>SOX18</i> - most of which have not been previously reported in the literature. Although majority of these genetic variants resulted in premature termination of the proteins, a single missense variant was identified in <i>FOXC2</i> and analyzed in this study using molecular modeling approaches to evaluate its structural changes. These results suggested possible deleterious effects of the analyzed variant and supported its potential pathogenicity. Our findings provide additional evidence that associates variants in transcription factors to the onset of lymphedema and support the addition of the candidate genes <i>FOXC1, NOTCH1,</i> and <i>RORC</i> in primary lymphedema diagnostic practice.</p>","PeriodicalId":94343,"journal":{"name":"Lymphology","volume":"58 3","pages":"119-134"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145777108","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Spatial Relationships of the Cisterna Chyli and Abdominal Venous Vasculature on MRI. 池乳糜与腹腔静脉血管的MRI空间关系。
Lymphology Pub Date : 2025-01-01
M Cutlan, E M Knavel Koepsel, G V Toia, E J Monroe
{"title":"Spatial Relationships of the Cisterna Chyli and Abdominal Venous Vasculature on MRI.","authors":"M Cutlan, E M Knavel Koepsel, G V Toia, E J Monroe","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>In the field of interventional radiology, transvascular routes of access to adjacent structures have led to shorter procedure times and fewer complications. No transvenous approach to intervene on the lymphatic ducts currently exists, nor do any standard measurements of the inferior vena cava (IVC) and cisterna chyli (CC). This retrospective review of cross-sectional imaging studies consisted of 150 adults (age 57±17.8) who obtained a magnetic resonance pancreatography (MRCP) for a variety of clinical indications. Of those, 8 patients had poor image quality and 28 did not have an identifiable CC. The remaining 114 images were evaluated for size, caliber, and orientation of anatomic structures of interest using a PACS workstation. The average distance between the center of the IVC to the center of the CC was found to be 24.3 mm (11.1-50.5 mm). The angle relative to anterior-posterior as determined by the spine ranged from 21.0° anterior to 103.0° posterior. Important intervening structures included the renal artery (19.30%), liver (7.02%), and aorta (4.39%). The short spatial approximation of the IVC and CC and the rarity of intervening structures support further development of transvascular CC access techniques.</p>","PeriodicalId":94343,"journal":{"name":"Lymphology","volume":"58 4","pages":"159-164"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147611223","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Toe-Brachial Index Rise in Lymphedema Patients with Multilayer Bandage. 使用多层绷带使淋巴水肿患者的脚趾肱指数上升
Lymphology Pub Date : 2024-01-01
J E Trihan, S Mestre, I Quere, D Laneelle, A Perez-Martin
{"title":"Toe-Brachial Index Rise in Lymphedema Patients with Multilayer Bandage.","authors":"J E Trihan, S Mestre, I Quere, D Laneelle, A Perez-Martin","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Multilayer compression bandaging (MLB) remains the primary treatment in lymphedema in association with manual lymphatic drainage. However, MLB can be contraindicated in patients with advanced lower extremity artery disease (LEAD). Presently, the prevalence of LEAD in lymphedema patients remains unknown. The goals of this study included i) to estimate the prevalence of LEAD, defined by toe-brachial index (TBI) less than 0.7, and ii) to measure the evolution of TBI after 30 min of MLB. A cross-sectional study was performed during a 3-month period on patients presenting with lower extremity lymphedema. Demographic data, basal TBI (T=0min) and TBI after 30 min of MLB at rest (T=30min) were recorded. Twenty-four patients with a total of 29 lymphedema limbs were included with a mean age of 62 years-old [Inter-quartile range (IQR) = 48 - 68] and 65.5% presenting with primary lymph-edema. Non-symptomatic LEAD, defined as TBI < 0.7, was found in 8 lymphedema limbs (27.6%). Advanced age, severe stages, and longer duration of lymphedema were associated with LEAD in univariate analysis. Median TBI increased significantly between T=0min and T=30min of MLB: 0.81 [IQR: 0.68 - 0.93] and 0.96 [IQR: 0.82 - 1.12] respectively (p= 0.004). Distal localization of lymphedema was associated with a decrease in TBI at T=30min in univariate analysis. Subclinical LEAD was found in over a quarter of lymphedema limbs and was more frequent in patients with advanced age, severe stages, and longer duration of lymphedema. Based on these findings, sub-clinical peripheral artery disease may be widely underestimated in lymphatic pathologies.</p>","PeriodicalId":94343,"journal":{"name":"Lymphology","volume":"57 2","pages":"76-83"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142635706","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Lymphatic Imaging and Intervention in Central Lymphatic Disorders. 中枢淋巴系统疾病的淋巴成像和干预。
Lymphology Pub Date : 2024-01-01
Y Dori
{"title":"Lymphatic Imaging and Intervention in Central Lymphatic Disorders.","authors":"Y Dori","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Advances in lymphatic imaging for both diagnosis and intervention are reviewed, and specific examples given for protein-losing enteropathy, multi compartment lymphatic failure, congestive heart failure. Presented at the 2023 ISL International Congress of Lymphology, Genoa, Italy in a special symposium on central and regional lymphatic system in health and disease.</p>","PeriodicalId":94343,"journal":{"name":"Lymphology","volume":"57 1","pages":"4-7"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142485055","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Pulmonary Lymphatics History, Anatomy, and Pathophysiology: Emerging Knowledge and a Look to the Future. 肺淋巴管的历史、解剖和病理生理学：新兴知识与未来展望。
Lymphology Pub Date : 2024-01-01
B Kelly, S Daley
{"title":"Pulmonary Lymphatics History, Anatomy, and Pathophysiology: Emerging Knowledge and a Look to the Future.","authors":"B Kelly, S Daley","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Central lymphatic disorders of the lung have not received intense investigation. Lymphatic system physiology is presented in the context of historical developments and basic lung lymphatic anatomy is reviewed followed by emerging characteristics of primary and secondary pathophysiological disturbances of lymphatic involvement in a number of pulmonary diseases including Gorham-Stout disease, pulmonary edema and infections and inflammatory conditions including lymphangioleiomyomatosis (LAM). The future includes potential molecular targeting of lymphangiogenesis or lymphatic vessels for interventional occlusion. This article is an amalgamation of presentations at the 2023 ISL International Congress of Lymphology, Genoa, Italy in a special symposium on central and regional lymphatic system in health and disease and as part of a Special Symposium on the Lymphatic system of the Heart and Lung in Health and Disease at the 26th International Congress of Lymphology meeting held in Barcelona, Spain, September 2017, which has been updated to 2024.</p>","PeriodicalId":94343,"journal":{"name":"Lymphology","volume":"57 1","pages":"19-26"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142485057","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Liver Lymphatic Anatomy and Its Role in Systemic Health and Disease. 肝脏淋巴解剖及其在全身健康和疾病中的作用。
Lymphology Pub Date : 2024-01-01
C Smith
{"title":"Liver Lymphatic Anatomy and Its Role in Systemic Health and Disease.","authors":"C Smith","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Lymphatic anatomy of the abdomen is reviewed with focus on hepatic and mesenteric vessels in normal and pathologic conditions. Anatomy and pathophysiology is highlight using both specialized fluoroscopy and T2 Dynamic Contrast MR lymphangiography (DCMRL). Plastic bronchitis, chylothorax, protein losing enteropathy, and both cirrhosis and ascites due to hepatic lymphatics are highlighted. Presented at the 2023 ISL International Congress of Lymphology, Genoa, Italy in a special symposium on central and regional lymphatic system in health and disease.</p>","PeriodicalId":94343,"journal":{"name":"Lymphology","volume":"57 1","pages":"12-15"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142485053","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Imaging and Interventional Management of Lymphatic Disorders. 淋巴系统疾病的成像和介入治疗。
Lymphology Pub Date : 2024-01-01
E Pinto
{"title":"Imaging and Interventional Management of Lymphatic Disorders.","authors":"E Pinto","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Lymphatic flow disorders are reviewed, and a classification based on magnetic resonance lymphography findings outlined. Examples of successful interventional management based on this classification are provided. Presented at the 2023 ISL International Congress of Lymphology, Genoa, Italy in a special symposium on central and regional lymphatic system in health and disease.</p>","PeriodicalId":94343,"journal":{"name":"Lymphology","volume":"57 1","pages":"8-11"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142485052","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Updated Human Chromosome Map of Lymphedema-lymphangiogenesis Genes: Template for Current and Future Discovery. 淋巴水肿-淋巴管生成基因的更新人类染色体图谱：当前和未来发现的模板。
Lymphology Pub Date : 2024-01-01
P Brouillard, M H Witte, R P Erickson, L Luy, M Vikkula
{"title":"Updated Human Chromosome Map of Lymphedema-lymphangiogenesis Genes: Template for Current and Future Discovery.","authors":"P Brouillard, M H Witte, R P Erickson, L Luy, M Vikkula","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>We have updated the human chromosomal map of the location of known and candidate genes involved in primary lymphedema (PL) originally published in 2021. This should facilitate further discovery and provide a basis for understanding microdeletions which cause lymphedema.</p>","PeriodicalId":94343,"journal":{"name":"Lymphology","volume":"57 4","pages":"186-190"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144056661","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Investigation of the Effect of Lymphedema Self-Care Patient School on Functionality, Quality of Life, Lymphedema Volume, and Body Value in Patients with Lower Extremity Lymphedema: A Quasi-Experimental Study. 淋巴水肿自我护理患者学校对下肢淋巴水肿患者功能、生活质量、淋巴水肿体积和身体价值影响的调查：一项准实验研究。
Lymphology Pub Date : 2024-01-01
S Eyigor, Z Deveci Kocbilek, M Ozgur Inbat, S Caliskan Kabayel, B D Akgu
{"title":"Investigation of the Effect of Lymphedema Self-Care Patient School on Functionality, Quality of Life, Lymphedema Volume, and Body Value in Patients with Lower Extremity Lymphedema: A Quasi-Experimental Study.","authors":"S Eyigor, Z Deveci Kocbilek, M Ozgur Inbat, S Caliskan Kabayel, B D Akgu","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>This study examined the effect of lymphedema self-care patient school education on patient functionality, quality of life, body value, and lymphedema volume in patients with lower extremity lymphedema. The study utilized a single-group quasi-experimental design. The study sample included 21 patients with primary and secondary lower extremity lymphedema. A multidisciplinary team created a face-to-face lymphedema self-care patient education program that lasted three weeks with four hours each week to enhance lymphedema self-care management. Data collected from participants prior to the program and then at third and sixth months via Lower Extremity Functional Scale (LEFS), Lymphedema Functionality, Disability and Quality of Life Scale in Lower Extremity Lymphedema (LYMPH-ICF-LL), Body Value Scale, and extremity volumes. The average age of the patients was 54.85±11.99 years and two-thirds had secondary lymphedema. A statistically significant difference was found in the mean scores of LEFS (p<0.001), LYMPH-ICF-LL total (p= 0.006) in the 3rd and 6th months after the completion of the program, and in the lymphedema volume change (p= 0.031) in the 6th month. It was found that the lymphedema self-care patient school improved functionality and quality of life in patients with lower extremity lymphedema and decreased lymphedema volume. This lymphedema self-care patient education pro-gram is a safe and effective educational method for self-care management in individuals with lower extremity lymphedema.</p>","PeriodicalId":94343,"journal":{"name":"Lymphology","volume":"57 3","pages":"157-168"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143054712","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Retrograde Thoracic Duct Access for Embolization of Lymphatic Malformations in a Child with Congenital Heart Disease and a Plexiform Thoracic Duct Variant. 逆行胸导管入路栓塞患有先天性心脏病和丛状胸导管变异的儿童淋巴畸形。
Lymphology Pub Date : 2024-01-01
A Saferite, B J Blair, A M Price, K A Fox, M D Seckeler
{"title":"Retrograde Thoracic Duct Access for Embolization of Lymphatic Malformations in a Child with Congenital Heart Disease and a Plexiform Thoracic Duct Variant.","authors":"A Saferite, B J Blair, A M Price, K A Fox, M D Seckeler","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>The physiologic sequelae of the atypical vasculature in patients with congenital heart disease can result in potentially fatal lymphatic complications, especially after corrective cardiac surgery. Transcatheter embolization of the thoracic duct or lymphatic collaterals can reduce morbidity and mortality in these patients. While typically performed transabdominally via an antegrade approach, retrograde embolization may be preferable in cases where this is not feasible, including in rare variants of thoracic duct anatomy. We present a case of a child with severe chylothorax after congenital cardiac surgery who was found to have thoracic lymphatic malformations and a plexiform thoracic duct variant who underwent successful embolization of the malformations.</p>","PeriodicalId":94343,"journal":{"name":"Lymphology","volume":"57 2","pages":"71-75"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142635703","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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