S. Michelini, B. Amato, M. Ricci, R. Serrani, D. Vešelényiová, S. Kenanoglu, D. Kurti, A. Dautaj, M. Baglivo, R. Compagna, J. Krajc̆ovic̆, M. Dundar, S. H. Basha, S. Priya, J. Belgrado, M. Bertelli
SVEP1, also known as Polydom, is a large extracellular mosaic protein with functions in protein interactions and adhesion. Since Svep1 knockout animals show severe edema and lymphatic system malformations, the aim of this study is to evaluate the presence of SVEP1 variants in patients with lymphedema. We analyzed DNA from 246 lymphedema patients for variants in known lymphedema genes, 235 of whom tested negative and underwent a second testing for new candidate genes, including SVEP1, as reported here. We found three samples with rare heterozygous missense single-nucleotide variants in the SVEP1 gene. In one family, healthy members were found to carry the same variants and reported some subclinical edema. Based on our findings and a review of the literature, we propose SVEP1 as a candidate gene that should be sequenced in patients with lymphatic malformations, with or without lymphedema, in order to investigate and add evidence on its possible involvement in the development of lymphedema.
{"title":"SVEP1 is important for morphogenesis of lymphatic system: Possible implications in lymphedema.","authors":"S. Michelini, B. Amato, M. Ricci, R. Serrani, D. Vešelényiová, S. Kenanoglu, D. Kurti, A. Dautaj, M. Baglivo, R. Compagna, J. Krajc̆ovic̆, M. Dundar, S. H. Basha, S. Priya, J. Belgrado, M. Bertelli","doi":"10.2458/lymph.4678","DOIUrl":"https://doi.org/10.2458/lymph.4678","url":null,"abstract":"SVEP1, also known as Polydom, is a large extracellular mosaic protein with functions in protein interactions and adhesion. Since Svep1 knockout animals show severe edema and lymphatic system malformations, the aim of this study is to evaluate the presence of SVEP1 variants in patients with lymphedema. We analyzed DNA from 246 lymphedema patients for variants in known lymphedema genes, 235 of whom tested negative and underwent a second testing for new candidate genes, including SVEP1, as reported here. We found three samples with rare heterozygous missense single-nucleotide variants in the SVEP1 gene. In one family, healthy members were found to carry the same variants and reported some subclinical edema. Based on our findings and a review of the literature, we propose SVEP1 as a candidate gene that should be sequenced in patients with lymphatic malformations, with or without lymphedema, in order to investigate and add evidence on its possible involvement in the development of lymphedema.","PeriodicalId":51122,"journal":{"name":"Lymphology","volume":"54 1 1","pages":"12-22"},"PeriodicalIF":2.5,"publicationDate":"2021-09-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44053753","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
We designed a study to compare effects of complete decongestive therapy (CDT) and kinesiology taping (KT) (with exercise and skin care) on limb circumference, lymphedema volume, grip strength, functional status, and quality of life in patients with unilateral breast cancer-related lymphedema (BCRL). Forty patients with unilateral stage 2 BCRL were randomized to either the CDT group (n=20) or the KT group (n=20). Patients in the CDT group underwent 30-min manual lymphatic drainage (MLD) and multi-layer, short-stretch bandaging once a week for four weeks. Patients in the KT group underwent taping once a week for four weeks. In addition, all patients were informed about skin care and given an exercise program throughout the treatment. Upper extremity circumference and volume differences as primary outcomes and grip strength, Quick-Disabilities of the Arm, Shoulder and Hand (Q-DASH), and Functional Assessment of Cancer Therapy-Breast (FACT-B) scores as secondary outcomes were assessed initially, after treatment (4 weeks), and at the 1st month follow-up. Limb circumference and volume differences were significantly reduced in the CDT group after the 4-week treatment compared with the KT group (p=0.012 and p=0.015, respectively), but there was no difference between the groups in the 1st month follow-up (p>0.05). There was no difference between the groups in terms of grip strength, Q-DASH, and FACT-B scores after treatment and at the 1st month follow-up (p>0.05). Our results show that both KT and CDT were found to significantly reduce limb volume and circumference individually at 4-weeks and the one-month follow-up in patients with BCRL and that CDT significantly reduced both limb volume and circumference compared to KT at the 4- week time point, but not at the follow-up. Further randomized controlled trials with patients at different stages of BCRL are needed to confirm and expand these results.
{"title":"Comparison of complete decongestive therapy and kinesiology taping for unilateral upper limb breast cancer-related lymphedema: A randomized controlled trial.","authors":"C. Başoğlu, D. Sindel, M. Corum, A. Oral","doi":"10.2458/lymph.4680","DOIUrl":"https://doi.org/10.2458/lymph.4680","url":null,"abstract":"We designed a study to compare effects of complete decongestive therapy (CDT) and kinesiology taping (KT) (with exercise and skin care) on limb circumference, lymphedema volume, grip strength, functional status, and quality of life in patients with unilateral breast cancer-related lymphedema (BCRL). Forty patients with unilateral stage 2 BCRL were randomized to either the CDT group (n=20) or the KT group (n=20). Patients in the CDT group underwent 30-min manual lymphatic drainage (MLD) and multi-layer, short-stretch bandaging once a week for four weeks. Patients in the KT group underwent taping once a week for four weeks. In addition, all patients were informed about skin care and given an exercise program throughout the treatment. Upper extremity circumference and volume differences as primary outcomes and grip strength, Quick-Disabilities of the Arm, Shoulder and Hand (Q-DASH), and Functional Assessment of Cancer Therapy-Breast (FACT-B) scores as secondary outcomes were assessed initially, after treatment (4 weeks), and at the 1st month follow-up. Limb circumference and volume differences were significantly reduced in the CDT group after the 4-week treatment compared with the KT group (p=0.012 and p=0.015, respectively), but there was no difference between the groups in the 1st month follow-up (p>0.05). There was no difference between the groups in terms of grip strength, Q-DASH, and FACT-B scores after treatment and at the 1st month follow-up (p>0.05). Our results show that both KT and CDT were found to significantly reduce limb volume and circumference individually at 4-weeks and the one-month follow-up in patients with BCRL and that CDT significantly reduced both limb volume and circumference compared to KT at the 4- week time point, but not at the follow-up. Further randomized controlled trials with patients at different stages of BCRL are needed to confirm and expand these results.","PeriodicalId":51122,"journal":{"name":"Lymphology","volume":"54 1 1","pages":"41-51"},"PeriodicalIF":2.5,"publicationDate":"2021-09-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41919614","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Treatment of patients with lymphedema focuses on reducing limb volume with more recent recognition of the importance of qualityof- life issues. Perhaps due to the incidence of filariasis-related lymphedema compared to breast cancer-related lymphedema in the western world, the Institute of Applied Dermatology (IAD) in Kerala, India has developed a low-cost and culturally acceptable treatment with quality-of-life focus that works well in that area. Worldwide, there is also recognition of chronic edema as a potential co-morbidity and the recent advances in genetic analysis continue to shed light on lymphedema development that may be important in filariasisrelated lymphedema. Although improvement in treatment outcomes by surgical means has been shown, there is often conventional treatment mixed in the therapy and no randomized controls of any therapy exist. In addition, these techniques require supermicrosurgical skill not available in many areas of the world. The WHO has documented the need in filariasis for both universal health care and innovative care for chronic conditions. The IAD has addressed these issues with its integrative model of treatment with patient quality-of-life at the forefront to incorporate traditional practice to involve the patient more fully in family and community support for an additional therapeutic tool.
{"title":"Morbidity management and disability prevention: An agenda for developing nations initiated in India.","authors":"SR Narahari, TJ Ryan","doi":"10.2458/lymph.4668","DOIUrl":"https://doi.org/10.2458/lymph.4668","url":null,"abstract":"Treatment of patients with lymphedema focuses on reducing limb volume with more recent recognition of the importance of qualityof- life issues. Perhaps due to the incidence of filariasis-related lymphedema compared to breast cancer-related lymphedema in the western world, the Institute of Applied Dermatology (IAD) in Kerala, India has developed a low-cost and culturally acceptable treatment with quality-of-life focus that works well in that area. Worldwide, there is also recognition of chronic edema as a potential co-morbidity and the recent advances in genetic analysis continue to shed light on lymphedema development that may be important in filariasisrelated lymphedema. Although improvement in treatment outcomes by surgical means has been shown, there is often conventional treatment mixed in the therapy and no randomized controls of any therapy exist. In addition, these techniques require supermicrosurgical skill not available in many areas of the world. The WHO has documented the need in filariasis for both universal health care and innovative care for chronic conditions. The IAD has addressed these issues with its integrative model of treatment with patient quality-of-life at the forefront to incorporate traditional practice to involve the patient more fully in family and community support for an additional therapeutic tool.","PeriodicalId":51122,"journal":{"name":"Lymphology","volume":"53 4 1","pages":"157-161"},"PeriodicalIF":2.5,"publicationDate":"2021-04-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49070001","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
H. Mayrovitz, C. Lorenzo-Valido, E. Pieper, A. Thomas
Tissue dielectric constant (TDC) and skin firmness assessed via indentation force (FORCE) help quantify lymphedema and track changes. We sought to determine potential differences in these parameters dependent on arm circumferential locations. Thus, TDC and FORCE were measured in 40 healthy women at medial, anterior and lateral locations on forearm and biceps. In five other women with unilateral lymphedema (68.6±7.6 years), TDC was measured at corresponding circumferential forearm positions. Measurements were done in triplicate using compact noninvasive devices. Results for healthy women (23.8±2.7 years) showed forearm medial TDC values (26.7±2.2) were less than anterior (28.0±2.4) or lateral (28.0±2.5) positions (p<0.001). Lymphedema patients had elevated values but similar medialanterior- lateral patterns (33.7±8.0, 39.8±10.2 and 42.9±10.0). Biceps medial TDC values (24.1±2.2) were also less than either anterior (27.0±2.1) or lateral (28.2±3.3). Contrastingly, medial FORCE values at forearm and biceps were less than at anterior and lateral locations (p<0.001) and increased in the order of medialanterior- lateral on forearm (p<0.001). The present findings provide reference values for both TDC and FORCE of commonly measured arm sites with specificity as to circumferential variations. This observed variation indicates the need for care in locating measurement positions for tracking patients with lymphedema.
{"title":"Forearm and biceps circumferential variations in skin tissue dielectric constant and firmness.","authors":"H. Mayrovitz, C. Lorenzo-Valido, E. Pieper, A. Thomas","doi":"10.2458/lymph.4672","DOIUrl":"https://doi.org/10.2458/lymph.4672","url":null,"abstract":"Tissue dielectric constant (TDC) and skin firmness assessed via indentation force (FORCE) help quantify lymphedema and track changes. We sought to determine potential differences in these parameters dependent on arm circumferential locations. Thus, TDC and FORCE were measured in 40 healthy women at medial, anterior and lateral locations on forearm and biceps. In five other women with unilateral lymphedema (68.6±7.6 years), TDC was measured at corresponding circumferential forearm positions. Measurements were done in triplicate using compact noninvasive devices. Results for healthy women (23.8±2.7 years) showed forearm medial TDC values (26.7±2.2) were less than anterior (28.0±2.4) or lateral (28.0±2.5) positions (p<0.001). Lymphedema patients had elevated values but similar medialanterior- lateral patterns (33.7±8.0, 39.8±10.2 and 42.9±10.0). Biceps medial TDC values (24.1±2.2) were also less than either anterior (27.0±2.1) or lateral (28.2±3.3). Contrastingly, medial FORCE values at forearm and biceps were less than at anterior and lateral locations (p<0.001) and increased in the order of medialanterior- lateral on forearm (p<0.001). The present findings provide reference values for both TDC and FORCE of commonly measured arm sites with specificity as to circumferential variations. This observed variation indicates the need for care in locating measurement positions for tracking patients with lymphedema.","PeriodicalId":51122,"journal":{"name":"Lymphology","volume":"53 4 1","pages":"204-211"},"PeriodicalIF":2.5,"publicationDate":"2021-04-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46000621","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
E. Nacchiero, M. Maruccia, R. Elia, F. Robusto, G. Giudice, O. Manrique, C. Campisi, G. Giudice
Lymphovenous anastomosis (LVA) has been described as an effective treatment for early stages of lymphedema (LE). The aim of this study was to deepen the evaluation of the effectiveness of LVA by performing a metaanalysis to provide information about its utility in specific anatomical sites, clinical stages, duration of lymphedema, and surgical technique. A systematic literature search using PubMed/Medline, Google Scholar, and Cochrane Database was performed in November 2019. Only original studies in which exclusively LVA was performed for primary and/or secondary lymphedema in humans were eligible for data extraction. A meta-analysis was performed on articles with a well-defined endpoint and a subgroup analysis was conducted in relation to surgical technique, duration of lymphedema, stage of pathology. Forty-eight studies, including 6 clinical trials and 42 lowrisk bias observational studies were included in our meta-analysis. 1,281 subjects were included and the majority of articles reported a pre-post analysis. Lymphaticovenular anastomosis appears to result effectively in treatment of lymphedema with an odds ratio of 0.07 (CI: 0.04, 0.13, p<0.001). All subgroup metaanalyses were statistically significant for LVAs specifically with regard to anatomical site, clinical stage, duration of LE, or type of microsurgical procedure (p<0.05). Our meta-analysis confirmed the efficacy of LVAs for the treatment of lymphedema, even when subgroup analysis was performed for clinical stage, duration of pathology, anatomical site of lymphedema, or type of microsurgical procedure. Further prospective trials with a common clearly defined outcome measure are warranted for an unbiased evaluation.
{"title":"Lymphovenous anastomosis for the treatment of lymphedema: A systematic review of the literature and meta-analysis.","authors":"E. Nacchiero, M. Maruccia, R. Elia, F. Robusto, G. Giudice, O. Manrique, C. Campisi, G. Giudice","doi":"10.2458/lymph.4670","DOIUrl":"https://doi.org/10.2458/lymph.4670","url":null,"abstract":"Lymphovenous anastomosis (LVA) has been described as an effective treatment for early stages of lymphedema (LE). The aim of this study was to deepen the evaluation of the effectiveness of LVA by performing a metaanalysis to provide information about its utility in specific anatomical sites, clinical stages, duration of lymphedema, and surgical technique. A systematic literature search using PubMed/Medline, Google Scholar, and Cochrane Database was performed in November 2019. Only original studies in which exclusively LVA was performed for primary and/or secondary lymphedema in humans were eligible for data extraction. A meta-analysis was performed on articles with a well-defined endpoint and a subgroup analysis was conducted in relation to surgical technique, duration of lymphedema, stage of pathology. Forty-eight studies, including 6 clinical trials and 42 lowrisk bias observational studies were included in our meta-analysis. 1,281 subjects were included and the majority of articles reported a pre-post analysis. Lymphaticovenular anastomosis appears to result effectively in treatment of lymphedema with an odds ratio of 0.07 (CI: 0.04, 0.13, p<0.001). All subgroup metaanalyses were statistically significant for LVAs specifically with regard to anatomical site, clinical stage, duration of LE, or type of microsurgical procedure (p<0.05). Our meta-analysis confirmed the efficacy of LVAs for the treatment of lymphedema, even when subgroup analysis was performed for clinical stage, duration of pathology, anatomical site of lymphedema, or type of microsurgical procedure. Further prospective trials with a common clearly defined outcome measure are warranted for an unbiased evaluation.","PeriodicalId":51122,"journal":{"name":"Lymphology","volume":"53 4 1","pages":"172-194"},"PeriodicalIF":2.5,"publicationDate":"2021-04-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43328791","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
L. Koehler, S. Rosenberg, J. Cater, K. Mikolajczyk, A. Morán, C. Metz, S. Monson
Resistance exercise is deemed safe for women recovering from conventional breast cancer therapies but few clinicians are aware that dragon boat racing, as a form of resistive exercise, is available to the breast cancer community. The objectives of this study were to 1) increase clinician awareness of dragon boat racing (DBR) in breast cancer survivors as a community-based physical activity, and 2) evaluate quality of life (QOL) in breast cancer survivors with or without lymphedema who participate in DBR. This prospective, observational study surveyed 1,069 international breast cancer dragon boat racers from eight countries to compare function, activity, and participation in women with and without selfreported lymphedema using the Lymph-ICF questionnaire. Seventy-one percent of women (n=758) completed the questionnaires. Results revealed significantly higher Lymph-ICF scores in the lymphedema participants, signifying reduced QOL, when compared to the nonlymphedema participants (p<0.05), except for "go on vacation" for which no statistical difference was reported (p=0.20). International breast cancer survivors with lymphedema participating in DBR at an international competition had reduced function, limited activity, and restricted participation compared to participants without lymphedema. Clinicians should consider utilizing DBR as a community-based activity to support exercise and physical activity after a breast cancer diagnosis.
{"title":"Quality of life in breast cancer survivors: An assessment of international breast cancer dragon boat racers.","authors":"L. Koehler, S. Rosenberg, J. Cater, K. Mikolajczyk, A. Morán, C. Metz, S. Monson","doi":"10.2458/lymph.4671","DOIUrl":"https://doi.org/10.2458/lymph.4671","url":null,"abstract":"Resistance exercise is deemed safe for women recovering from conventional breast cancer therapies but few clinicians are aware that dragon boat racing, as a form of resistive exercise, is available to the breast cancer community. The objectives of this study were to 1) increase clinician awareness of dragon boat racing (DBR) in breast cancer survivors as a community-based physical activity, and 2) evaluate quality of life (QOL) in breast cancer survivors with or without lymphedema who participate in DBR. This prospective, observational study surveyed 1,069 international breast cancer dragon boat racers from eight countries to compare function, activity, and participation in women with and without selfreported lymphedema using the Lymph-ICF questionnaire. Seventy-one percent of women (n=758) completed the questionnaires. Results revealed significantly higher Lymph-ICF scores in the lymphedema participants, signifying reduced QOL, when compared to the nonlymphedema participants (p<0.05), except for \"go on vacation\" for which no statistical difference was reported (p=0.20). International breast cancer survivors with lymphedema participating in DBR at an international competition had reduced function, limited activity, and restricted participation compared to participants without lymphedema. Clinicians should consider utilizing DBR as a community-based activity to support exercise and physical activity after a breast cancer diagnosis.","PeriodicalId":51122,"journal":{"name":"Lymphology","volume":"53 4 1","pages":"195-203"},"PeriodicalIF":2.5,"publicationDate":"2021-04-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48165471","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
AL McCarter, A. Khalid, Y. Yi, M. Monroy, H. Zhao, JJ Rios, MT Dellinger
Ectopic lymphatics form in bone and promote bone destruction in diseases such as Gorham-Stout disease, generalized lymphatic anomaly, and kaposiform lymphangiomatosis. However, the role lymphatics serve in normal bone development and repair is poorly understood. The objective of this study was to characterize bone development and fracture healing in mice that have a defect in the development of the lymphatic vasculature. We found that bones in wild-type adult mice and mouse embryos did not have lymphatics. We also found that bone development was normal in Vegfr3 (Chy/Chy) embryos. These mice do not have lymphatics and die shortly after birth. To determine whether lymphatics serve a role in postnatal bone development and fracture healing, we analyzed bones from Vegfr3 (wt/Chy) mice. These mice are viable and have fewer lymphatics than wild-type mice. We found that postnatal bone development and fracture healing was normal in Vegfr3 (wt/Chy) mice. Taken together, our results suggest that lymphatics do not play a major role in normal bone development or repair.
{"title":"Bone development and fracture healing is normal in mice that have a defect in the development of the lymphatic system.","authors":"AL McCarter, A. Khalid, Y. Yi, M. Monroy, H. Zhao, JJ Rios, MT Dellinger","doi":"10.2458/lymph.4669","DOIUrl":"https://doi.org/10.2458/lymph.4669","url":null,"abstract":"Ectopic lymphatics form in bone and promote bone destruction in diseases such as Gorham-Stout disease, generalized lymphatic anomaly, and kaposiform lymphangiomatosis. However, the role lymphatics serve in normal bone development and repair is poorly understood. The objective of this study was to characterize bone development and fracture healing in mice that have a defect in the development of the lymphatic vasculature. We found that bones in wild-type adult mice and mouse embryos did not have lymphatics. We also found that bone development was normal in Vegfr3 (Chy/Chy) embryos. These mice do not have lymphatics and die shortly after birth. To determine whether lymphatics serve a role in postnatal bone development and fracture healing, we analyzed bones from Vegfr3 (wt/Chy) mice. These mice are viable and have fewer lymphatics than wild-type mice. We found that postnatal bone development and fracture healing was normal in Vegfr3 (wt/Chy) mice. Taken together, our results suggest that lymphatics do not play a major role in normal bone development or repair.","PeriodicalId":51122,"journal":{"name":"Lymphology","volume":"53 4 1","pages":"162-171"},"PeriodicalIF":2.5,"publicationDate":"2021-04-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47470065","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
M. Seckeler, L. Moedano, D. Mustacich, B. Kalb, M. Saranathan, J. Galons, M. Witte
Detailed imaging of the lymphatic system often requires direct injection of contrast into lymph nodes which can be technically challenging, time consuming, and produce painful stimuli. We sought to describe the use of non-contrast MR lymphography (NCMRL) for normal controls and patients with a variety of rare disorders associated with lymphatic pathologies. Two control subjects and five affected patients (decompensated Fontan circulation, central conducting lymphatic abnormality, familial lymphedema and two with Gorham-Stout disease) were studied. NCMRL images were segmented in a semiautomated fashion and the major lymphatic channels and thoracic duct (TD) highlighted for identification. Adequate imaging was available for both controls and 4/5 affected patients; the youngest patient could not be imaged given patient motion. For the two controls, the TD was seen in the expected anatomic location. For the decompensated Fontan patient, there were numerous tortuous lymphatic channels, predominantly in the upper chest and neck. For the familial lymphedema patient, a TD was not identified; instead, peripheral lymphatic collaterals near the lateral chest walls. For the first Gorham- Stout patient, the TD was enlarged with large intrathoracic lymph collections. For the second Gorham-Stout patient, there were bilateral TD with lymph collections in vertebral bodies. Using NCMRL, we were able to image normal and abnormal lymphatic systems. An important learning point is the potential need for sedation for younger patients due to long image acquisition times and fine resolution of the structures of interest.
{"title":"Non-contrast MR lymphography of rare lymphatic abnormalities.","authors":"M. Seckeler, L. Moedano, D. Mustacich, B. Kalb, M. Saranathan, J. Galons, M. Witte","doi":"10.2458/lymph.4665","DOIUrl":"https://doi.org/10.2458/lymph.4665","url":null,"abstract":"Detailed imaging of the lymphatic system often requires direct injection of contrast into lymph nodes which can be technically challenging, time consuming, and produce painful stimuli. We sought to describe the use of non-contrast MR lymphography (NCMRL) for normal controls and patients with a variety of rare disorders associated with lymphatic pathologies. Two control subjects and five affected patients (decompensated Fontan circulation, central conducting lymphatic abnormality, familial lymphedema and two with Gorham-Stout disease) were studied. NCMRL images were segmented in a semiautomated fashion and the major lymphatic channels and thoracic duct (TD) highlighted for identification. Adequate imaging was available for both controls and 4/5 affected patients; the youngest patient could not be imaged given patient motion. For the two controls, the TD was seen in the expected anatomic location. For the decompensated Fontan patient, there were numerous tortuous lymphatic channels, predominantly in the upper chest and neck. For the familial lymphedema patient, a TD was not identified; instead, peripheral lymphatic collaterals near the lateral chest walls. For the first Gorham- Stout patient, the TD was enlarged with large intrathoracic lymph collections. For the second Gorham-Stout patient, there were bilateral TD with lymph collections in vertebral bodies. Using NCMRL, we were able to image normal and abnormal lymphatic systems. An important learning point is the potential need for sedation for younger patients due to long image acquisition times and fine resolution of the structures of interest.","PeriodicalId":51122,"journal":{"name":"Lymphology","volume":"53 3 1","pages":"136-140"},"PeriodicalIF":2.5,"publicationDate":"2021-01-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49317799","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
S. Michelini, B. Amato, S. Kenanoglu, D. Vešelényiová, A. Dautaj, D. Kurti, M. Baglivo, M. Dundar, J. Krajc̆ovic̆, G. Miggiano, B. Aquilanti, G. Matera, V. Velluti, L. Gagliardi, S. H. Basha, M. Bertelli
PECAM1 is a member of the immunoglobulin superfamily and is expressed in monocytes, neutrophils, macrophages and other types of immune cells as well as in endothelial cells. PECAM1 function is crucial for the development and maturation of B lymphocytes. The aim of this study was to link rare PECAM1 variants found in lymphedema patients with the development of lymphatic system malformations. Using NGS, we previously tested 246 Italian lymphedema patients for variants in 29 lymphedema-associated genes and obtained 235 negative results. We then tested these patients for variants in the PECAM1 gene. We found three probands with rare variants in PECAM1. All variants were heterozygous missense variants. In Family 1, the unaffected mother and brother of the proband were found to carry the same variant as the proband. Lymphoscintigraphy was performed to determine possible lymphatic malformations and showed that in both cases a bilateral slight reduction in the speed and lymphatic clearance of the lower limbs. PECAM1 function is important for lymphatic vasculature formation. We found variants in PECAM1 that may be associated with susceptibility to lymphedema.
{"title":"Rare PECAM1 variants in three families with lymphedema.","authors":"S. Michelini, B. Amato, S. Kenanoglu, D. Vešelényiová, A. Dautaj, D. Kurti, M. Baglivo, M. Dundar, J. Krajc̆ovic̆, G. Miggiano, B. Aquilanti, G. Matera, V. Velluti, L. Gagliardi, S. H. Basha, M. Bertelli","doi":"10.2458/lymph.4666","DOIUrl":"https://doi.org/10.2458/lymph.4666","url":null,"abstract":"PECAM1 is a member of the immunoglobulin superfamily and is expressed in monocytes, neutrophils, macrophages and other types of immune cells as well as in endothelial cells. PECAM1 function is crucial for the development and maturation of B lymphocytes. The aim of this study was to link rare PECAM1 variants found in lymphedema patients with the development of lymphatic system malformations. Using NGS, we previously tested 246 Italian lymphedema patients for variants in 29 lymphedema-associated genes and obtained 235 negative results. We then tested these patients for variants in the PECAM1 gene. We found three probands with rare variants in PECAM1. All variants were heterozygous missense variants. In Family 1, the unaffected mother and brother of the proband were found to carry the same variant as the proband. Lymphoscintigraphy was performed to determine possible lymphatic malformations and showed that in both cases a bilateral slight reduction in the speed and lymphatic clearance of the lower limbs. PECAM1 function is important for lymphatic vasculature formation. We found variants in PECAM1 that may be associated with susceptibility to lymphedema.","PeriodicalId":51122,"journal":{"name":"Lymphology","volume":"53 3 1","pages":"141-151"},"PeriodicalIF":2.5,"publicationDate":"2021-01-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42982949","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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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