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Elizabeth A Thiele - One of the best experts on this subject based on the ideXlab platform.
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Lymphedema in tuberous sclerosis complex.
American journal of medical genetics. Part A, 2014Co-Authors: Alexandra L Geffrey, Julianna E Shinnick, Susana Boronat, Brigid A. Staley, Elizabeth A ThieleAbstract:Congenital Lymphedema has been described as a possible rare association of tuberous sclerosis complex (TSC), with only six previous cases reported in the literature. TSC is an autosomal dominant, multisystem disorder connected to aberrant regulation of the mammalian target of rapamycin (mTOR) pathway. The aim of this study is to review cases of Lymphedema in a large cohort of TSC patients. The medical records of 268 patients seen at The Herscot Center for Children and Adults with Tuberous Sclerosis Complex at the Massachusetts General Hospital from 2002 to 2012 were retrospectively reviewed for reports of Lymphedema or edema of unknown etiology. Genotypic and phenotypic data were collected in accordance with institutional review board (IRB) approval. This cohort presents two new cases of congenital Lymphedema in TSC patients and acquired Lymphedema was found in eight additional cases. Thus, we report 10 new cases of Lymphedema in TSC (4%). The two patients with congenital Lymphedema were female, as were the previous six reported cases. The frequency of Lymphedema reported here (4%) is higher than the estimated prevalence in the general population (0.133-0.144%), suggesting a higher frequency of Lymphedema in TSC. This study shows that patients with TSC and Lymphedema are more likely to be females with renal AMLs and suggests that congenital Lymphedema is a gender-specific (female) manifestation of TSC. Exploration of the potential role of mTOR antagonists may be important in treatment of Lymphedema in TSC patients.
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Lymphedema in tuberous sclerosis complex.
American Journal of Medical Genetics Part A, 2014Co-Authors: Alexandra L Geffrey, Julianna E Shinnick, Susana Boronat, Brigid A. Staley, Elizabeth A ThieleAbstract:Congenital Lymphedema has been described as a possible rare association of tuberous sclerosis complex (TSC), with only six previous cases reported in the literature. TSC is an autosomal dominant, multisystem disorder connected to aberrant regulation of the mammalian target of rapamycin (mTOR) pathway. The aim of this study is to review cases of Lymphedema in a large cohort of TSC patients. The medical records of 268 patients seen at The Herscot Center for Children and Adults with Tuberous Sclerosis Complex at the Massachusetts General Hospital from 2002 to 2012 were retrospectively reviewed for reports of Lymphedema or edema of unknown etiology. Genotypic and phenotypic data were collected in accordance with institutional review board (IRB) approval. This cohort presents two new cases of congenital Lymphedema in TSC patients and acquired Lymphedema was found in eight additional cases. Thus, we report 10 new cases of Lymphedema in TSC (4%). The two patients with congenital Lymphedema were female, as were the previous six reported cases. The frequency of Lymphedema reported here (4%) is higher than the estimated prevalence in the general population (0.133–0.144%), suggesting a higher frequency of Lymphedema in TSC. This study shows that patients with TSC and Lymphedema are more likely to be females with renal AMLs and suggests that congenital Lymphedema is a gender-specific (female) manifestation of TSC. Exploration of the potential role of mTOR antagonists may be important in treatment of Lymphedema in TSC patients. © 2014 Wiley Periodicals, Inc.
Carlo Crosti - One of the best experts on this subject based on the ideXlab platform.
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lymphangiosarcoma of the pubic region a rare complication arising in congenital non hereditary Lymphedema
European Journal of Dermatology, 1998Co-Authors: Andrea Cerri, Campatelli Gianni, Massimo Pizzuto, Mario Corbellino, Laura Moneghini, Carlo CrostiAbstract:Lymphangiosarcoma (LAS) is a rare, vascular tumour, frequently associated with post-mastectomy Lymphedema (Stewart Treves's syndrome) [1]. Exceptionally, this form of very aggressive neoplasm arises in congenital Lymphedema, commonly classified into hereditary (Milroy's syndrome and Meige's syndrome) and non-hereditary Lymphedemas [2-4]. Until now, only four cases of LAS arising in a non-hereditary congenital Lymphedema of the lower [...]
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lymphangiosarcoma of the pubic region a rare complication arising in congenital non hereditary Lymphedema
European Journal of Dermatology, 1998Co-Authors: Andrea Cerri, Campatelli Gianni, Massimo Pizzuto, Mario Corbellino, Laura Moneghini, Carlo CrostiAbstract:Lymphangiosarcoma is a rare, aggressive, vascular neoplasm arising in chronic congenital or acquired Lymphedema. Although it is most frequently associated with post-mastectomy Lymphedema (Stewart-Treves's syndrome), lymphangiosarcoma can exceptionally arise in congenital hereditary Lymphedema (Milroy's syndrome and Meige's syndrome) and non-hereditary Lymphedema (congenital, praecox or forme tarde Lymphedemas). We report a case of lymphangiosarcoma of the pubic region, supported by immunohistochemical studies, in a 42-year-old woman affected by congenital, non-hereditary Lymphedema of the left genital region and homolateral lower limb. In addition, molecular analysis demonstrated the absence of Kaposi's sarcoma-associated Herpes virus (KSHV) DNA sequences in tumour lesions. To our knowledge, this is the first case of lymphangiosarcoma associated with congenital non-hereditary Lymphedema confined to the pubic region. The literature concerning the cases of lymphangiosarcoma arising in congenital hereditary and non-hereditary Lymphedema is reviewed. Moreover, we emphasized the importance of regular clinical controls in all patients affected by chronic Lymphedema. In fact, although the prognosis of this neoplasm is very poor, a prompt diagnosis and a rapid, ablative surgery associated with radiation therapy can increase the possibility of survival of these patients.
Alexandra L Geffrey - One of the best experts on this subject based on the ideXlab platform.
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Lymphedema in tuberous sclerosis complex.
American journal of medical genetics. Part A, 2014Co-Authors: Alexandra L Geffrey, Julianna E Shinnick, Susana Boronat, Brigid A. Staley, Elizabeth A ThieleAbstract:Congenital Lymphedema has been described as a possible rare association of tuberous sclerosis complex (TSC), with only six previous cases reported in the literature. TSC is an autosomal dominant, multisystem disorder connected to aberrant regulation of the mammalian target of rapamycin (mTOR) pathway. The aim of this study is to review cases of Lymphedema in a large cohort of TSC patients. The medical records of 268 patients seen at The Herscot Center for Children and Adults with Tuberous Sclerosis Complex at the Massachusetts General Hospital from 2002 to 2012 were retrospectively reviewed for reports of Lymphedema or edema of unknown etiology. Genotypic and phenotypic data were collected in accordance with institutional review board (IRB) approval. This cohort presents two new cases of congenital Lymphedema in TSC patients and acquired Lymphedema was found in eight additional cases. Thus, we report 10 new cases of Lymphedema in TSC (4%). The two patients with congenital Lymphedema were female, as were the previous six reported cases. The frequency of Lymphedema reported here (4%) is higher than the estimated prevalence in the general population (0.133-0.144%), suggesting a higher frequency of Lymphedema in TSC. This study shows that patients with TSC and Lymphedema are more likely to be females with renal AMLs and suggests that congenital Lymphedema is a gender-specific (female) manifestation of TSC. Exploration of the potential role of mTOR antagonists may be important in treatment of Lymphedema in TSC patients.
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Lymphedema in tuberous sclerosis complex.
American Journal of Medical Genetics Part A, 2014Co-Authors: Alexandra L Geffrey, Julianna E Shinnick, Susana Boronat, Brigid A. Staley, Elizabeth A ThieleAbstract:Congenital Lymphedema has been described as a possible rare association of tuberous sclerosis complex (TSC), with only six previous cases reported in the literature. TSC is an autosomal dominant, multisystem disorder connected to aberrant regulation of the mammalian target of rapamycin (mTOR) pathway. The aim of this study is to review cases of Lymphedema in a large cohort of TSC patients. The medical records of 268 patients seen at The Herscot Center for Children and Adults with Tuberous Sclerosis Complex at the Massachusetts General Hospital from 2002 to 2012 were retrospectively reviewed for reports of Lymphedema or edema of unknown etiology. Genotypic and phenotypic data were collected in accordance with institutional review board (IRB) approval. This cohort presents two new cases of congenital Lymphedema in TSC patients and acquired Lymphedema was found in eight additional cases. Thus, we report 10 new cases of Lymphedema in TSC (4%). The two patients with congenital Lymphedema were female, as were the previous six reported cases. The frequency of Lymphedema reported here (4%) is higher than the estimated prevalence in the general population (0.133–0.144%), suggesting a higher frequency of Lymphedema in TSC. This study shows that patients with TSC and Lymphedema are more likely to be females with renal AMLs and suggests that congenital Lymphedema is a gender-specific (female) manifestation of TSC. Exploration of the potential role of mTOR antagonists may be important in treatment of Lymphedema in TSC patients. © 2014 Wiley Periodicals, Inc.
Meredith Kugar - One of the best experts on this subject based on the ideXlab platform.
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Surgical Approach to Lymphedema Reduction
Current Oncology Reports, 2020Co-Authors: Kristalyn K. Gallagher, Marcos Lopez, Kathleen Iles, Meredith KugarAbstract:Purpose of Review For patients who have or may develop Lymphedema due to oncologic resection, surgical options are available to prevent and treat this chronic disease. Here, we review the current pathophysiology, classification systems, surgical preventive techniques, and treatment options for Lymphedema reduction. Recent Findings Preventive surgical techniques, including de-escalation of axillary surgery, sentinel lymph node biopsy (SLNB), axillary reverse mapping (ARM), and Lymphedema microsurgical preventive healing approach (LYMPHA), have been shown to reduce the incidence of Lymphedema. Water displacement remains the gold standard for measuring limb volume and classification of Lymphedema; however, lymphoscintigraphy and ICG lymphography are two novel imaging techniques that are now utilized to characterize Lymphedema and guide management. Complete decongestive therapy (CDT) remains the mainstay of treatment. Vascularized lymph node transfer (VLNT) and lymphovenous bypass have shown promising results, particularly in advanced Lymphedema stages. Combination therapy, incorporating both surgical and non-surgical approaches to Lymphedema, yields best patient outcomes. Summary Lymphedema is a chronic disease wherein management requires a combination of surgical and conservative treatments. Standardization in Lymphedema staging, key outcome indicators, and quantitative data will be critical to establish the absolute best practices in Lymphedema diagnosis and treatment.
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Surgical Approach to Lymphedema Reduction.
Current oncology reports, 2020Co-Authors: Kristalyn K. Gallagher, Marcos Lopez, Kathleen A. Iles, Meredith KugarAbstract:For patients who have or may develop Lymphedema due to oncologic resection, surgical options are available to prevent and treat this chronic disease. Here, we review the current pathophysiology, classification systems, surgical preventive techniques, and treatment options for Lymphedema reduction. Preventive surgical techniques, including de-escalation of axillary surgery, sentinel lymph node biopsy (SLNB), axillary reverse mapping (ARM), and Lymphedema microsurgical preventive healing approach (LYMPHA), have been shown to reduce the incidence of Lymphedema. Water displacement remains the gold standard for measuring limb volume and classification of Lymphedema; however, lymphoscintigraphy and ICG lymphography are two novel imaging techniques that are now utilized to characterize Lymphedema and guide management. Complete decongestive therapy (CDT) remains the mainstay of treatment. Vascularized lymph node transfer (VLNT) and lymphovenous bypass have shown promising results, particularly in advanced Lymphedema stages. Combination therapy, incorporating both surgical and non-surgical approaches to Lymphedema, yields best patient outcomes. Lymphedema is a chronic disease wherein management requires a combination of surgical and conservative treatments. Standardization in Lymphedema staging, key outcome indicators, and quantitative data will be critical to establish the absolute best practices in Lymphedema diagnosis and treatment.
Kathryn H. Schmitz - One of the best experts on this subject based on the ideXlab platform.
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does the effect of weight lifting on Lymphedema following breast cancer differ by diagnostic method results from a randomized controlled trial
Breast Cancer Research and Treatment, 2011Co-Authors: Sandi Hayes, Rebecca M Speck, Elizabeth Reimet, Azadeh Stark, Kathryn H. SchmitzAbstract:The Lymphedema diagnostic method used in descriptive or intervention studies may influence results found. The purposes of this work were to compare baseline Lymphedema prevalence in the physical activity and Lymphedema (PAL) trial cohort and to subsequently compare the effect of the weight-lifting intervention on Lymphedema, according to four standard diagnostic methods. The PAL trial was a randomized controlled intervention study, involving 295 women who had previously been treated for breast cancer, and evaluated the effect of 12 months of weight lifting on Lymphedema status. Four diagnostic methods were used to evaluate Lymphedema outcomes: (i) interlimb volume difference through water displacement, (ii) interlimb size difference through sum of arm circumferences, (iii) interlimb impedance ratio using bioimpedance spectroscopy, and (iv) a validated self-report survey. Of the 295 women who participated in the PAL trial, between 22 and 52% were considered to have Lymphedema at baseline according to the four diagnostic criteria used. No between-group differences were noted in the proportion of women who had a change in interlimb volume, interlimb size, interlimb ratio, or survey score of ≥5, ≥5, ≥10%, and 1 unit, respectively (cumulative incidence ratio at study end for each measure ranged between 0.6 and 0.8, with confidence intervals spanning 1.0). The variation in proportions of women within the PAL trial considered to have lymphoedema at baseline highlights the potential impact of the diagnostic criteria on population surveillance regarding prevalence of this common morbidity of treatment. Importantly though, progressive weight lifting was shown to be safe for women following breast cancer, even for those at risk or with Lymphedema, irrespective of the diagnostic criteria used.
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weight lifting for women at risk for breast cancer related Lymphedema a randomized trial
JAMA, 2010Co-Authors: Kathryn H. Schmitz, Andrea L. Cheville, Andrea B. Troxel, Rehana L. Ahmed, Rebecca Smith, Cathy J. Bryan, Lorita Lewisgrant, Catherine T Williamssmith, Jesse ChittamsAbstract:Context Clinical guidelines for breast cancer survivors without Lymphedema advise against upper body exercise, preventing them from obtaining established health benefits of weight lifting. Objective To evaluate Lymphedema onset after a 1-year weight lifting intervention vs no exercise (control) among survivors at risk for breast cancer–related Lymphedema (BCRL). Design, Setting, and Participants A randomized controlled equivalence trial (Physical Activity and Lymphedema trial) in the Philadelphia metropolitan area of 154 breast cancer survivors 1 to 5 years postunilateral breast cancer, with at least 2 lymph nodes removed and without clinical signs of BCRL at study entry. Participants were recruited between October 1, 2005, and February 2007, with data collection ending in August 2008. Intervention Weight lifting intervention included a gym membership and 13 weeks of supervised instruction, with the remaining 9 months unsupervised, vs no exercise. Main Outcome Measures Incident BCRL determined by increased arm swelling during 12 months (≥5% increase in interlimb difference). Clinician-defined BCRL onset was also evaluated. Equivalence margin was defined as doubling of lyphedema incidence. Results A total of 134 participants completed follow-up measures at 1 year. The proportion of women who experienced incident BCRL onset was 11% (8 of 72) in the weight lifting intervention group and 17% (13 of 75) in the control group (cumulative incidence difference [CID], −6.0%; 95% confidence interval [CI], −17.2% to 5.2%; P for equivalence = .04). Among women with 5 or more lymph nodes removed, the proportion who experienced incident BCRL onset was 7% (3 of 45) in the weight lifting intervention group and 22% (11 of 49) in the control group (CID, −15.0%; 95% CI, −18.6% to −11.4%; P for equivalence = .003). Clinician-defined BCRL onset occurred in 1 woman in the weight lifting intervention group and 3 women in the control group (1.5% vs 4.4%, P for equivalence = .12). Conclusion In breast cancer survivors at risk for Lymphedema, a program of slowly progressive weight lifting compared with no exercise did not result in increased incidence of Lymphedema. Trial Registration clinicaltrials.gov Identifier: NCT00194363Published online December 8, 2010. doi:10.1001/jama.2010.1837
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Abstract ES9-3: Balancing Risks of Deconditioning vs. Weight-Lifting for Breast Cancer Survivors
Invited Speaker Abstracts, 2010Co-Authors: Kathryn H. Schmitz, Andrea L. Cheville, Rl Ahmed, Andrea B. TroxelAbstract:Background: Clinical guidelines for breast cancer survivors with and at-risk for Lymphedema have advised against upper body exercise, preventing them from obtaining established health benefits of weight-lifting. The primary hypotheses of the Physical Activity and Lymphedema Trial were that Lymphedema onset and worsening would not differ after a one-year weightlifting intervention compared to no exercise among survivors at risk for and with breast cancer-related Lymphedema. Methods: We performed a randomized controlled trial of a twice-weekly progressive weight-lifting intervention involving 141 breast cancer survivors with stable arm Lymphedema at study entry and 154 survivors at-risk for Lymphedema at study entry. Treatment group participants were provided a gym membership and 13 weeks of supervised instruction; the remaining nine months were unsupervised. Control group participants were provided the intervention after study completion. The primary outcome was the change in arm swelling at one year, as measured by water volumetry of the affected and unaffected arms. Secondary outcomes included the clinician defined incidence of onset and exacerbations of Lymphedema, Lymphedema symptoms, and muscle strength. Participants with Lymphedema were required to wear a well-fitted compression garment while weight-lifting. Results: Among the women who entered the study with Lymphedema, the proportion who experienced a 5% or greater increase in arm swelling (interlimb difference) was similar in the treatment and control groups (11% versus 12%; cumulative incidence ratio [95% confidence interval], 1.00 (0.88 to 1.13) As compared with the control group, the women in the intervention group with Lymphedema had greater improvements in self-reported Lymphedema symptom severity (p=0.03), and a lower incidence of Lymphedema exacerbations as assessed by a certified Lymphedema specialist (14% versus 29% in the control group, p= 0.04). Among the women who entered the study without Lymphedema, more control than treatment group women experienced Lymphedema onset defined by 5% increase in interlimb difference (17 versus 11%, p = 0.35). Among higher risk women (5+ lymph nodes removed), this comparison was statistically significant (22 versus 7%, p=0.04). Clinician-defined BCRL onset occurred in 1 treatment and 3 control group women (p=0.62). Conclusions: Slowly progressive weight-lifting had no significant impact on arm swelling among breast cancer survivors with Lymphedema, and resulted in a reduced incidence of Lymphedema flares and improvement in symptoms. In breast cancer survivors at risk for Lymphedema, a program of slowly progressive weight-lifting, compared with no intervention, did not result in increased incidence of Lymphedema. In secondary analyses, women with 5+ nodes removed who did weight-lifting were less likely to experience increases in arm swelling. Citation Information: Cancer Res 2010;70(24 Suppl):Abstract nr ES9-3.
