Lymphology最新文献

We have created a human chromosomal map of the location of known and candidate genes involved in primary lymphedema (PLE). This should facilitate further discovery and provide a basis for understanding microdeletions which cause lymphedema.

Gorham-Stout Disease (GSD), also named vanishing bone disease, is an ultrarare condition characterized by progressive osteolysis with intraosseous lymphatic vessel proliferation and bone cortical loss. So far, about 300 cases have been reported. It may occur at any age but more commonly affects children and young adults. The aim of this study is to retrospectively review our internal patient series and to hypothesize a diagnostic-therapeutic protocol for earlier diagnosis and treatment. Clinical datasets from our center were examined to identify all GSD patients for collection and analysis. We identified 9 pediatric cases and performed a retrospective case-series review to examine and document both diagnosis and treatment. We found that delay in diagnosis after first symptoms played a critical role in determining morbidity and that multidisciplinary care is key for proper diagnosis and treatment. Our study provides additional insight to improve the critical challenge of early diagnosis and highlights a multidisciplinary treatment approach for the most appropriate management of patients with rare GSD disease. Although GSD is an ultrarare disease, physicians should keep in mind the main clinical features since neglected cases may result in potentially fatal complications.

Neonatal chylous effusions are rare entity with limited evidence-based management. We conducted a retrospective review of neonates admitted to King Edward Memorial and Princess Margaret/Perth Children's Hospital over 20 years with laboratory-confirmed chylous effusions. A total of 51 infants with chylous effusion were identified. Median gestational age and birth weight were 35.5 weeks and 2620 grams respectively. Congenital [27/ 51] and acquired [24/51] cases were included. Antenatal interventions were performed in 17/22 with antenatal hydrops and 50/51 needed postnatal drains. Effusions were monitored with serial (≥2) chest ultrasounds in 29/51 infants and multiple (≥5) x-rays in 45/51 infants. Median duration of mechanical ventilation, oxygen requirement, and hospital stay was 294.5 hours, 400 hours, and 49 days respectively. 39/51 received medium chain triglyceride (MCT) diet while 8/51 received octreotide. Six infants died during hospital stay. 12/19 had normal developmental assessment at one-year. The acquired group had higher number of xrays done, need for MCT diet and inotropes, and hospital stay vs congenital group. Duration of drains, radiological investigations and immunoglobulin administration were higher in neonates who received octreotide. Syndromic association, duration of ventilation and oxygenation were risk factors for mortality. In our setting, neonatal chylous effusions are associated with significant morbidity and mortality.

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.

Instagram® is one of the most active social media platforms with over a billion users worldwide. Since the importance of education on lymphedema has been established due to the chronic nature of the disease, seeking knowledge attracts much attention not only clinically but also on social platforms such as Instagram ®. Our aim was to examine content by analyzing posts tagged with hashtags on Instagram ® related to lymphedema. Nine predefined hashtags related to lymphedema were used to search posts uploaded to Instagram® via the Apify tool. Retrieved public posts were classified and analyzed by four researchers for their content and post-type. We found that the vast majority of sharing on Instagram® in the context of lymphedema and its related aspects have relatively low scores for both relevancy and accuracy with a 77% irrelevancy rate. The best posts were those determined to be educational, which were found 57% relevant and correct. Medical professionals should consider that disseminating true guidance and therapy carries importance for patients with lymphedema and treatment success. The ability for patients to reach knowledge via social media might also be an important aspect in reliving suffering due to lymphedema. However, our results demonstrate that Instagram® might not be a good platform for patients to discover reliable information about lymphedema.

Connexin proteins form gap junctions controlling exchange of ions and small molecules between cells and play an important role in movement of lymph within lymphatic vessels. Connexin47 (CX47) is highly expressed in lymphatic endothelial cells and CX47 missense mutations, i.e., R260C, cosegregate with primary lymphedema in humans. However, studies utilizing CX47 knockout mice have failed to demonstrate any lymphatic anomalies. To unravel the lymphatic consequences of expressing a mutant CX47 protein, we used CRISPR technology to create a mouse carrying a Cx47 missense mutation (Cx47R259C) equivalent to the human CX47R260C missense mutation associated with human primary lymphedema. Intradermal Evans Blue dye injection identified a 2-fold increase in regional lymph nodes in homozygous Cx47R259C mice compared to wildtype, particularly in the jugular region (4.8 ± 0.4 and 2.0 ± 0.0, respectively, p<0.01). Associated lymphatic channels were increased in Cx47R259C mice and mesenteric lymph reflux occurred in homozygous Cx47R259C mice but not in wildtype. Contractility of superficial cervical lymphatics, assessed by pressure myography, was reduced in homozygous Cx47R259C mice compared to wildtype. In conclusion, our data are the first to demonstrate a role for the Cx47 protein in lymphatic anatomy and function. This phenotype is similar to that found with other valve deficient mouse mutants, e.g., in Foxc2. Of significance, this study is the first to use CRISPR technology to develop a pre-clinical model of primary lymphedema and demonstrates the importance of distinguishing between lack of and presence of mutant protein when developing clinically relevant animal models for translation of pre-clinical findings.

Breast cancer-related lymphedema (BCRL) affects more than one in five women treated for breast cancer, and women remain at lifelong risk. Screening for BCRL is recommended by several national and international organizations for women at risk of BCRL, and multiple methods of objective screening measurement exist. The goal of this study was to compare the use of perometry and bioimpedance spectroscopy (BIS) for early identification of BCRL in a cohort of 138 prospectivelyscreened patients. At each screening visit, a patient's relative volume change (RVC) from perometer measurements and change in L-Dex from baseline (ΔL-Dex) using BIS was calculated. There was a negligible correlation between RVC and ΔL-Dex (r=0.195). Multiple thresholds of BCRL were examined: RVC ≥5% and ≥10% as well as and ΔL-Dex ≥6.5 and ≥10. While some patients developed an elevated RVC and ΔL-Dex, many demonstrated elevations in only one threshold category. Moreover, the majority of patients with RVC ≥5%, ΔL-Dex ≥6.5, or ΔL-Dex ≥10 regressed to non-elevated measurements without intervention. These findings suggest a role for combining multiple screening methods for early identification of BCRL; furthermore, BCRL diagnosis must incorporate patient symptoms and clinical evaluation with objective measurements obtained from techniques such as perometry and bioimpedance spectroscopy.

In a thought experiment, a "washing machine" model is proposed based on turbulent flow from complex multi-dimensional forces to characterize fluid dynamics in the brain. The glymphatic system's hypothetical role in this system is illustrated in a series of diagrams. Implications of this model are discussed in terms of normal physiology and a variety of pathologic conditions such as brain atrophy and Alzheimer disease.

Lymphedema is a common condition with global impact and a multitude of complications, however, only a few professionals specialize in its management. A retrospective analysis of 105 subjects with unilateral lymphedema upper or lower limb was performed to investigate whether the duration of lymphedema constitutes an important factor associated with the efficacy of complete decongestive therapy (CDT). Subjects were classified into two groups according to the duration of lymphedema, prior to CDT: group A (≤1 year) and group B (>1 year). Both groups were treated daily according to the same CDT protocol for four weeks. The CDT efficacy was determined based on the percent reduction of excess volume (PREV) measurements. Lymphedema was significantly reduced in both groups of subjects, but significantly more in group A (p<0.001). In subjects with upper limb lymphedema, median value of PREV was 80.8% (interquartile range, 79.1-105.0%) in group A and 62.0% (interquartile range, 56.7-66.5%) in group B (p<0.001). In subjects with lower limb lymphedema PREV was 80.7% (interquartile range, 74.9-85.2%) and 64.5% (interquartile range, 56.0-68.1%) for groups A and B, respectively (p<0.001). Duration of lymphedema was found to be a strong predictive factor that may significantly impact CDT efficacy. Therapeutic effects were increased in subjects who were detected and treated earlier for lymphedema.

Lipedema is a chronic disease seen frequently in women that causes abnormal fat deposition in the lower limbs and associated bruising and pain. Despite increasing knowledge concerning lipedema, there are still aspects of diagnosis that need further investigation. We performed a prospective, observational cohort study to describe prevalence of clinical characteristics present in patients with lipedema in an attempt to establish diagnostic criteria. Participants were consecutive patients with lipedema presenting at a public hospital in Spain from September 2012 to December 2019. Patients were examined for the following signs and symptoms of lipedema: symmetrical involvement; disproportion between the upper and lower part of the body; sparing of the feet; pain; bruising; Stemmer' sign; pitting test; fibrosis; venous insufficiency; upper limbs involvement; vascular spiders; skin coldness; and lymphangitis attacks. In addition, orthopedic alterations were examined in all patients. We recruited 138 patients (median age=47.6 years; mean BMI=29.9 Kg/m2). Using waist-to-height-ratio, 41.3% of the patients were slim or healthy. The most frequent type of lipedema was Type III (71%), and most were in stage 1 and 2. The features of lipedema with a prevalence >80% were symmetrical involvement, unaffected feet, pain, bruising, vascular spiders, and disproportion. Pain was nociceptive in 60.2% and neuropathic in 33.1%, and there was a reduced social or working activities in 37.9%. Orthopedic alterations including cavusfeet or valgus-knees were observed in 1/3 of the patients. X-ray of the knees was performed in 63 patients and knee osteoarthritis diagnosed in 37. We found that the most frequent manifestations of lipedema were bilateral involvement, unaffected feet, pain, easy bruising, vascular spiders, and disproportion between the upper and lower parts of the body. These should be considered as major criteria for diagnosis. In addition, our findings on the prevalence of orthopedic alterations in patients with lipedema highlights the need for a multidisciplinary and integrated approach.