Lymphatic research and biology最新文献

{"title":"Molecular Characterization of Vascular Anomalies Tissues Guides Clinical Diagnosis.","authors":"Scott B Henslee, Whitney L Wooderchak-Donahue, J Fred Grimmer, Philippe Szankasi, Ashini Bolia, Alice Frigerio, David A Stevenson, Josue A Flores Daboub, Pinar Bayrak-Toydemir","doi":"10.1177/15578585251391569","DOIUrl":"https://doi.org/10.1177/15578585251391569","url":null,"abstract":"<p><strong>Background: </strong>Vascular anomalies are a group of common endothelial disorders that manifest a wide range of overlapping phenotypes, which complicate diagnosis. Next-generation sequencing (NGS) has led to the ability to detect low-frequency somatic variants, which may aid in the correct diagnosis and treatment of patients. Our goal was to identify the pathogenic variants in affected tissue taken from a cohort of 58 unrelated patients with various clinically diagnosed vascular anomalies.</p><p><strong>Methods: </strong>DNA was extracted from fresh/frozen affected tissue samples and evaluated using a custom 735 vascular anomaly/cancer gene NGS panel down to 1% somatic mosaicism.</p><p><strong>Results: </strong>Pathogenic or likely pathogenic variants were identified in 47% (27/58) of vascular anomaly tissue biopsies, including 61.5% (16/26) of lymphatic malformation (LM), 15% (3/20) of hemangioma (congenital and infantile), and 67% (8/12) of other various vascular anomalies. Two novel variants, <i>PIK3CA</i> c.3205_3206insTTTT (p.*1069Pheext*4) and <i>PIK3R1</i> c.1384_1395del (p.Glu462_Arg465del), were identified in LM tissue. In addition, we report a likely pathogenic variant <i>GNA14</i> c.512C>T (p.Thr171Ile) identified in a GLUT-1 positive infantile hemangioma lesion. The majority (52%) of the negative results were in infantile hemangioma tissue, for which a genetic cause has not yet been established.</p><p><strong>Conclusions: </strong>The 735 gene vascular anomaly/cancer NGS panel is an effective way to detect low levels of somatic mosaicism in these lesions. Given the challenge that many vascular anomalies present to diagnose, genetic testing is an invaluable tool for clinicians to utilize in the process of diagnosis and determining treatment.</p>","PeriodicalId":18168,"journal":{"name":"Lymphatic research and biology","volume":" ","pages":"15578585251391569"},"PeriodicalIF":1.9,"publicationDate":"2026-01-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146030094","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}

{"title":"Modeling of Lymphedema Distribution and Complex Decongestive Therapy Effectiveness.","authors":"Giovanni Farina, Ilaria Santaniello, Manuela Galli, Antonella LoMauro","doi":"10.1177/15578585251387049","DOIUrl":"10.1177/15578585251387049","url":null,"abstract":"<p><p><b><i>Background:</i></b> Lymphedema is a potential chronic degenerative secondary condition of oncologic treatments. Complex decongestive therapy (CDT) is the only treatment. Quantitative dimensional characterization of lymphedema is a topic of great clinical interest that has not been sufficiently analyzed yet. We aimed to develop statistical models that evaluate lymphedema's local spatial distribution and the effectiveness of CDT. <b><i>Methods and Results:</i></b> Retrospective observational analysis of 74 individuals (220 medical records) with unilateral upper or lower limb lymphedema who completed at least one cycle of the first phase of CDT. Statistical mixed-effects models were used to quantify the local distribution of lymphedema through the circumference of eight detection points and the efficacy of CDT according to the entity and the etiology of lymphedema. The coefficients of the models considered both fixed (i.e., the effect at the population level) and random (i.e., subject) effects. All points significantly reduced between pre- and posttreatment. Lymph stagnation occurred in the forearm and below the knee. The dimensions and effective treatment were similar between primary and secondary lymphedema and between mild and moderate lymphedema. The median global volume reduction of the upper limb was 55.1%, while it was 55%, 44.8%, and 41.7% in mild, moderate, and severe lymphedema; 50.6% and 49.4% in primary and secondary lymphedema. The median global volume reduction of the lower limb was 49.5%, while it was 64%, 49.4%, and 48.2% in mild, moderate, and severe lymphedema. <b><i>Conclusion:</i></b> A modeling of lymphedema distribution was provided, finding a dysmorphic pattern driven by the gravitation effect, with lymphedema accumulating on the lower part of the limbs, which is also the part that mostly responded to CDT. The response to CDT was assessed locally and not in terms of global volume change. A new segmental proportional technique was proposed that allows making comparisons between and within subjects.</p>","PeriodicalId":18168,"journal":{"name":"Lymphatic research and biology","volume":" ","pages":"352-361"},"PeriodicalIF":1.9,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145238953","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}

{"title":"Changes in the Diameter of Lymphatic Vessels and Veins Due to Body Position, Evaluated by Ultrasound.","authors":"Hisako Hara, Makoto Mihara","doi":"10.1177/15578585251382108","DOIUrl":"10.1177/15578585251382108","url":null,"abstract":"<p><p><b><i>Background:</i></b> The purpose of this study was to clarify how lymphatic vessels and veins change when body position is changed in lower limbs affected by lymphedema. <b><i>Methods:</i></b> We performed a retrospective study of 18 consecutive patients (33 limbs) who underwent lymphaticovenous anastomosis (LVA) for lower limb lymphedema. We performed ultrasound to detect the suitable lymphatic vessels and veins preoperatively, applying the index of D-CUPS (Doppler, Crossing, Uncollapsible, Parallel, and Superficial fascia) to identify lymphatic vessels. We measured the vertical diameter of the lymphatic vessels and veins in each incision site for LVA using ultrasound with the patients lying, sitting, and standing, and a Student's <i>t test</i> was performed. <b><i>Results:</i></b> The mean age of the participants was 61.8 years old, and the mean body mass index was 21.7 (range: 18.3-28.1). Thirty-eight sites on the 30 thighs and 21 sites on the 18 calves were evaluated. The diameter of veins increased significantly when changing from a lying to a sitting or a standing position (thigh: <i>p</i> < 0.01, calf: <i>p</i> = 0.016 and 0.015, respectively), but lymphatic vessels did not (thigh: <i>p</i> = 0.65, calf: <i>p</i> = 0.60 and 0.36, respectively). A weak correlation was found between dilatation rates of veins and lymphatic vessels in the calf (r = 0.39, <i>p</i> = 0.030). <b><i>Conclusion:</i></b> The veins dilated significantly when the body changed from the supine to standing position, but the lymphatic vessels did not. Similar studies with a larger number of cases are desirable in the future.</p>","PeriodicalId":18168,"journal":{"name":"Lymphatic research and biology","volume":" ","pages":"334-339"},"PeriodicalIF":1.9,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145131186","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}

{"title":"Effectiveness of Biker Shorts-Style Compression Garments for the Treatment of Secondary Lower Limb Lymphedema.","authors":"Kazuyo Kamiyama, Akira Shinaoka, Yoshihiro Kimata","doi":"10.1177/15578585251378442","DOIUrl":"10.1177/15578585251378442","url":null,"abstract":"<p><p><b><i>Background:</i></b> Gradient compression garments are a standard treatment for lower limb lymphedema. However, few reports exist on the indications, effectiveness, and limitations of a biker shorts-style compression garment providing only proximal local compression of the thigh and lower abdomen for lymphedema treatment. This pilot study aimed to investigate the therapeutic effects of using biker shorts-style compression garments for lower limb lymphedema treatment. <b><i>Methods and Results:</i></b> We retrospectively analyzed 40 limbs that received treatment using biker shorts-style compression garments. The primary endpoint was the volume change in the thigh (compression region) and the lower leg (non-compression region) after 6 months of using biker shorts-style compression garments. The control was the volume change in the same patients during an equivalent time period when gradient compression garments were worn. Changes in lymphedema-related symptoms and patients' subjective comments were secondary endpoints. Of the 40 limbs analyzed, 33 limbs were early-stage cases classified as stage 1 or lower by the International Society of Lymphology. Twenty-one limbs had pain and heaviness associated with lymphedema in the thigh or groin. After 6 months of using biker shorts-style compression garments, there was a significant reduction in thigh volume compared to that after using gradient compression garments during the same period. Lymph-related pain improved in all limbs. Significantly poorer thigh volume improvement was observed in patients with a missing posterolateral pathway on lymphangiography and a history of radiation therapy. <b><i>Conclusion:</i></b> Compared to gradient compression garments, biker shorts-style compression garments may improve thigh volume and symptoms in lower limb secondary lymphedema.</p>","PeriodicalId":18168,"journal":{"name":"Lymphatic research and biology","volume":" ","pages":"326-333"},"PeriodicalIF":1.9,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145138053","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}

{"title":"Reference Values for Interstitial Tissue Water in the Head and Neck Area: Non-lymphedema Participants.","authors":"Coralie R Arends, Caitlyn An Haack, Lisette van der Molen, Michiel W M van den Brekel, Martijn M Stuiver","doi":"10.1177/15578585251385299","DOIUrl":"10.1177/15578585251385299","url":null,"abstract":"<p><p><b><i>Background:</i></b> To determine reference values for interstitial percentage water content (PWC) in the head and neck area, in a large and heterogeneous sample of non-lymphedema participants; to determine left-right interchangeability of measurement locations, and to explore to what extent PWC values vary with age, sex, skin type, and body mass index (BMI) at the determined measuring locations. <b><i>Methods and Results:</i></b> In this cross-sectional study, a heterogeneous group of adult non-lymphedema participants was included. PWC was measured according to an earlier developed protocol by seven trained health professionals. Limits of agreement, error correlations, and bias, as determined by Bland and Altman analysis, were used to assess the left-right interchangeability. Mixed effects models were used to explore variables that explain the variety in PWC values. Stratified descriptive reference values were calculated for relevant subgroups. A total of 412 participants were included in the study. The unstratified PWC values ranged from 38.9% to 45.5%. Sex and BMI were statistically significantly correlated with PWC values, while sex is also clinically relevant. <b><i>Conclusion:</i></b> This study resulted in sex-stratified reliable reference PWC values in the head and neck area for healthy adults. A difference of 10 percentage point between the same measurement point on the left and right side of the head or neck can be considered normal. The established reference values for PWC can be used to assist diagnosis and follow-up in patients with lymphedema in the head and neck area.</p>","PeriodicalId":18168,"journal":{"name":"Lymphatic research and biology","volume":" ","pages":"362-368"},"PeriodicalIF":1.9,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145244693","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}

{"title":"Prevalence of Lymphedema in Colombia During 2015-2020: A Population-Based Registry Study.","authors":"Alejandro Zapata-Ospina, Juan Pablo Zapata-Ospina, Diego Zapata-Ospina, Diana Rincón-Riano","doi":"10.1177/15578585251382549","DOIUrl":"10.1177/15578585251382549","url":null,"abstract":"<p><p><b><i>Introduction:</i></b> Lymphedema is a chronic, intractable, and irreversible disease. It consists of insufficiency of the lymphatic vessels to transport lymph, leading to edema and fibrosis. In developing countries and Colombia, the current prevalence of lymphedema is unknown. <b><i>Methods:</i></b> A descriptive cross-sectional study based on population registries. Secondary sources available in Colombia for epidemiological surveillance were revised, and period and point prevalences were calculated. <b><i>Results:</i></b> A total of 49,185 cases with a diagnosis of lymphedema were identified in Colombia between 2015 and 2020, resulting in a prevalence of 96.6 cases per 100,000 inhabitants for this period. An increase in the annual point prevalence was found from 2015 to 2019. Lymphedema is more prevalent in women and in the population over 60 years of age. Postmastectomy lymphedema is more prevalent in people aged 60 years or older, and a differential distribution among the different regions of the country was observed. <b><i>Conclusions:</i></b> It is the first known prevalence study of lymphedema in Colombia. It shows that the frequency of the disease is increasing, mostly secondary lymphedema, which mainly affects women and people over 35 years of age.</p>","PeriodicalId":18168,"journal":{"name":"Lymphatic research and biology","volume":" ","pages":"340-345"},"PeriodicalIF":1.9,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145199875","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}

{"title":"Validation of the Lymphedema Quality of Life Questionnaire for German Patients with Lipedema.","authors":"Johanna Mahler, Vaughan Keeley, Doha Obed, Alperen Bingöl, Peter M Vogt, Catarina Hadamitzky","doi":"10.1177/15578585251382110","DOIUrl":"10.1177/15578585251382110","url":null,"abstract":"<p><p><b><i>Background:</i></b> Lipedema, a chronic condition affecting mostly women, involves painful bilateral increase of subcutaneous adipose tissue. The societal impact of this disease is still poorly understood. This study aimed to validate the Lymphedema Quality-of-Life Questionnaire (LYMQOL) for lipedema patients in Germany, assessing its feasibility, reliability, and validity. <b><i>Methods and Results:</i></b> A total of 81 German-speaking stage II lipedema patients were asked to complete both the LYMQOL (arm and leg versions) and the Short Form Health Survey (SF-36) questionnaires twice, and this was 2 weeks apart. Feasibility was evaluated through response rates, scale structure via factor analysis, validity through SF-36 correlations, and reliability through internal consistency and test-retest reliability analysis. A valid 68% response rate was achieved. Both arm and leg versions demonstrated construct validity with significant correlations to SF-36 subscales. Internal consistency for the leg version was acceptable to excellent, and good to excellent for the arm version. Test-retest reliability was very good for both versions. <b><i>Conclusions:</i></b> This study validates the LYMQOL as a robust tool for assessing lipedema patients' quality of life, and also validates the German translation contained in this article. We hope to fill a critical research gap and support future clinical studies aiming at enhancing patient care.</p>","PeriodicalId":18168,"journal":{"name":"Lymphatic research and biology","volume":" ","pages":"346-351"},"PeriodicalIF":1.9,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145138028","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}

{"title":"Time-Dependent Changes in the Skin Hardness in Taxane-Induced Swollen Arms.","authors":"Kotaro Suehiro, Saiko Honda, Takasuke Harada, Yuriko Takeuchi, Takahiro Mizoguchi, Ryunosuke Sakamoto, Ryo Suzuki, Hiroshi Kurazumi, Kimikazu Hamano","doi":"10.1177/15578585251378108","DOIUrl":"10.1177/15578585251378108","url":null,"abstract":"<p><p><b><i>Background:</i></b> We aimed to clarify the time-dependent changes in skin hardness in taxane-induced arm swelling. <b><i>Methods and Results:</i></b> Fifteen patients with unilateral arm swelling that developed during or within 3 months from the termination of postoperative taxane-containing chemotherapy were studied. The patients were followed up every 3-6 months for 24 months from the initial visit. During each visit, arm circumference and skin hardness were assessed using a scale ranging from 1 (softest) to 7 (hardest). Ultrasonography of the skin and subcutaneous tissues was performed at 0, 6, 12, and 24 months from the initial visit. In the initial visit, the mean skin hardness in the affected and contralateral arms was 3.8 versus 2.8 (<i>p</i> < 0.05) in the medial/lateral upper arm, 5.0 versus 2.8 (<i>p</i> < 0.01) in the medial forearm, and 4.3 versus 2.8 (<i>p</i> < 0.05) in the lateral forearm. In 12 patients whose arm swelling resolved, the difference in skin hardness between the arms disappeared in 9 patients until 9 months from the initial visit, whereas a mild difference in skin hardness persisted in the remaining 3 patients. Even in three patients whose arm swelling persisted, a certain improvement was observed until 9-12 months from the initial visit. <b><i>Conclusions:</i></b> We found that the majority of skin hardening associated with taxane-induced arm swelling improved until approximately 9-12 months from the initial visit, including complete resolution in 60% of patients.</p>","PeriodicalId":18168,"journal":{"name":"Lymphatic research and biology","volume":" ","pages":"320-325"},"PeriodicalIF":1.9,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145040669","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}

{"title":"Advancing Lymphatic Science and Patient Care: Recent Milestones from LE&RN.","authors":"","doi":"10.1177/15578585251400305","DOIUrl":"https://doi.org/10.1177/15578585251400305","url":null,"abstract":"","PeriodicalId":18168,"journal":{"name":"Lymphatic research and biology","volume":"23 6","pages":"370"},"PeriodicalIF":1.9,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145661531","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}

{"title":"Sirolimus for Venous Malformations: A Systematic Review of Efficacy and Safety.","authors":"Joyce Teng, Jeff Martini, Michael Kelly, Megha Tollefson, Alexander Greer","doi":"10.1177/15578585251377562","DOIUrl":"10.1177/15578585251377562","url":null,"abstract":"<p><p><b><i>Background:</i></b> Venous malformations can cause substantial morbidity and long-term complications. There are no Food and Drug Administration (FDA)-approved therapies for the treatment of venous malformations. However, off-label use of sirolimus has demonstrated clinical benefit in these patients. This systematic review evaluates the efficacy and safety of sirolimus in the management of venous malformations. <b><i>Methods and Results:</i></b> A systematic literature search identified 26 studies comprising 98 patients treated with sirolimus for venous malformations. Most studies were case reports or case series (77%), with 15% prospective trials and 8% retrospective analyses. Sirolimus, primarily administered orally, yielded some level of clinical improvement in 72% of reported patients, with consistent symptomatic relief observed in coagulopathy, bleeding, anemia, pain, and improved function. However, reduction in the size of the malformation varied and treatment-limiting side effects were observed. <b><i>Conclusions:</i></b> Oral sirolimus is a promising treatment option for venous malformations, especially for those with deep venous malformations. A direct, targeted topical treatment could provide clinical benefit for the cutaneous manifestation without the risk of off-target effects as occur with oral sirolimus. Further prospective, controlled studies are warranted to elucidate sirolimus's role in managing venous malformations.</p>","PeriodicalId":18168,"journal":{"name":"Lymphatic research and biology","volume":" ","pages":"311-319"},"PeriodicalIF":1.9,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145033806","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}