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Lipedema is a disabling disease characterized by symmetric enlargement of the lower and/or upper limbs due to deposits of subcutaneous fat, that is easily misdiagnosed. Lipedema can be primary or syndromic, and can be the main feature of phenotypically overlapping disorders. The aim of this study was to design a next-generation sequencing (NGS) panel to help in the diagnosis of lipedema by identifying genes specific for lipedema but also genes for overlapping diseases, and targets for tailored treatments. We developed an NGS gene panel consisting of 305 genes potentially associated with lipedema and putative overlapping diseases relevant to lipedema. The genomes of 162 Italian and American patients with lipedema were sequenced. Twenty-one deleterious variants, according to 3 out of 5 predictors, were detected in PLIN1, LIPE, ALDH18A1, PPARG, GHR, INSR, RYR1, NPC1, POMC, NR0B2, GCKR, PPARA in 17 patients. This extended NGS-based approach has identified a number of gene variants that may be important in the diagnosis of lipedema, that may affect the phenotypic presentation of lipedema or that may cause disorders that could be confused with lipedema. This tool may be important for the diagnosis and treatment of people with pathologic subcutaneous fat tissue accumulation.
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Lymphatic drainage is the main form of therapy for lymphedema, as it affects the pathophysiology of this clinical condition. The two main objectives of lymphatic drainage are the formation and drainage of lymph. In recent years, Godoy & Godoy developed a novel concept of mechanical lymphatic drainage involving a device denominated RAGodoy®, which performs passive exercises of the lower and upper limbs as a form of lymphatic drainage. The aim of the present study was to address the concept of this therapy as well as perform a literature review on its forms of use and the results obtained. All studies analyzed show that this technique used as monotherapy enables the treatment of lymphedema, but superior results are achieved when combined with compression mechanisms.
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Background: There is insufficient clear epidemiological and clinical knowledge about lymphedema patient’s population in Mexico, this limits its investigation. The objective of this study is to present basic lymphedema epidemiological data and its clinical characteristics based on the analysis of lymphedema patients’ data collected from a specialized rehabilitation clinic in Mexico. Methods: This is a cohort study developed between 2015 and 2021. The study was carried ou in a private clinic specialized in oncological and peripheral vascular patients’ rehabilitation. Clinical assessments and interviews were performed to collect each case’s clinical history, considering its medical characteristics, physical activity and functionality and socio-demographic information, classified in a matrix, and later statistically evaluated. Results: Among 446 lymphedema patients, gender distribution was represented by 81% female and 19% male with a mean age of 50.5 years (±44.5). The population was categorized into the following three different study groups according to diagnosis: Cancer-Related Lymphedema (CRL), Non-Cancer-Related Secondary Lymphedema (NCRSL) and Primary Lymphedema. 60.08% of the patients had CRL; 25.11% had NCRSL and 14.79% had Primary Lymphedema. Among the patients with CRL, 81% of them corresponded to breast cancer diagnosis, the rest were associated to 19 different cancer diagnoses. The most prevalent diagnosis was breast CRL 48.6%; phlebolymphedema 19.4%; congenital and praecox lymphedema 14.1%; lipo-lymphedema 4.8%. The BMI of 64% of the patients ranged in overweight and obesity. 37.6% of patients reported that had experienced pain in limbs affected by lymphedema and 45% of all patients reported some disability to perform one or more activities associated to their limb volume or limb discomfort. 82% of patients had no physical activity or performed less physical activity than what is suggested to their population group’s recommendation. Conclusion: This study stablishes a precedent on reporting the broadest available epidemiological and clinical data of lymphedema in Mexico. Further studies are needed to report with a higher precision the epidemiological, clinical, and demographical data about each etiological group for a better understanding of lymphedema in Mexico and Latin America.
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This book is written as a guide for patients suffering from lipedema. Known as a common, painful fat distribution disorder characterised by a disproportional fat accumulation, lipedema represents an unmet medical need where scientific evidence on both pathophysiology and its treatment is still lacking. As the number of affected patients is increasing, besides striving to map the conundrum of clinical signs and relate these to their underlying mechanisms, developing standardised approaches addressing both fat mass reduction and body contouring are key issues able to warrant therapeutic success. In this book, our intention was to look at this complex disease from all its actual perspectives and provide a concise summary of the actual state of knowledge for all those affected. After looking into the most actual data on the aetiology, pathophysiology and course of the disease, the book then focuses on our complex treatment protocols wherecurrent conservative and surgical treatment options are systematically analyzed, considering their long-term chances of success as well as associated risks and side effects. We propose a three step treatment approach. 1st step initiates with weight control and addresses obesity, if present. 2nd step is an individual liposuction therapy plan to treat all lipedema areas, and more. 3rd step includes body contouring surgery, only in patients with massive skin laxity after liposuction and / or massive weight loss. Table of Contents Front Matter Pages i-xviii The Lipedema Zaher Jandali, Benedikt Merwart, Lucian Jiga Pages 1-68 The Lymphedema Corrado Campisi, Lucian Jiga, Zaher Jandali Pages 69-94 Treatment of Lipedema Zaher Jandali, Benedikt Merwart, Ralf Weise, Angel Pecorelli Capozzi, Lucian Jiga Pages 95-176 Body Contouring Surgery After Extensive Liposuction and Weight Loss Zaher Jandali, Benedikt Merwart, Lucian Jiga Pages 177-198 Additional Information about Treatment Zaher Jandali, Benedikt Merwart, Lucian Jiga Pages 199-204 Back Matter Pages 205-207
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This chapter sets out the most promising modern directions of research in the field of magnetic resonance imaging. These include multinuclear studies aimed at the exploration of magnetic resonance (MR) image contrast induced by exogeneous (fluorine-19, hyperpolarized noble gases) and “built-in” (phosphorus-31, sodium-23) contrast agents for potential clinical benefits. The chapter covers electrodynamic elements of MR scanners that increase signal-to-noise ratio in low-field magnetic resonance imaging (MRI), hyperpolarization techniques that allow several orders of magnitude improved sensitivity in low-field MRI, as well as MRI methods to study dynamics of pharmaceuticals introduced into the body. Special attention is given to MRI methods based upon magnetization transfer aimed at the detection of myelination defects of axons in the brain and functional MRI characterizing brain dynamic response to external stimuli.
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Background: Lipedema is a chronic and progressive adipose tissue disorder that causes significant morbidity and negatively influences mental health and quality of life, and increases the risk of depression, anxiety, and eating disorders. One construct of relevance to better understanding psychological disorders is emotion regulation (ER). Therefore, the aim of this study is to investigate the difficulties in ER among lipedema patients compared to healthy people without lipedema. Methods: This cross-sectional study assessed differences in ER and anxiety between two groups: 26 female patients with lipedema and 26 sex- and age-matched healthy controls. The Difficulties in Emotion Regulation Scale (DERS) assessed emotional regulation across six dimensions: Impulse control, goal-directed behavior, awareness, clarity, non-acceptance, and strategies. Anxiety was assessed by the Hamilton Anxiety Scale (HAM-A). ANOVA assessed differences in measures between lipedema and healthy control groups. Results: Lipedema patients presented with significantly more difficulties in ER and a higher level of anxiety than those without lipedema. Specifically, the lipedema group showed higher and significant differences in total DERS and anxiety scores and all DERS subscales scores compared to those without lipedema. Conclusions: Lipedema patients showed significant difficulties with ER, and were associated with anxiety symptoms, indicating that ER difficulties may play a role in developing emotional disorders, such as anxiety, for patients with lipedema. The health care provider should pay more attention to ER difficulties and psychological status among lipedema patients.
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BACKGROUND: Lipedema is characterized as an abnormal deposition of fat in the buttocks and legs bilaterally that may be accompanied by swelling, pain, and tenderness. It is still often confused with more frequent conditions such as obesity and lymphedema. The estimated prevalence in Europe varies between 0.06% and 39%. OBJECTIVES: To evaluate the prevalence of lipedema and identify health factors related to it in the Brazilian population. METHODS: Administration of a previously validated online screening questionnaire to a representative sample of the general population. The questionnaire was distributed and administered to anonymous volunteers representing the general Brazilian population using software designed for population analyses. RESULTS: 253 women answered the questionnaire, 12.3 ± 4% (Confidence Interval [CI] 95%) of whom presented symptoms compatible with a high probability of being diagnosed with lipedema. Furthermore, anxiety, depression, hypertension, and anemia were also correlated with a high probability of the diagnosis. CONCLUSIONS: The estimated prevalence of lipedema in the population of Brazilian women is 12.3%.
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Fluid compartments in the human body are divided between the intracellular and extracellular spaces. The extracellular space constitutes about one-third of total body water, which is further divided into intravascular plasma volume (25%) and the extravascular interstitial space (75%). The fluid balance between these compartments is maintained by hydrostatic pressures and oncotic pressures described by Starling. The other two factors that play an important role in fluid balance are vessel wall permeability and the lymphatic system. The lymphatic system collects fluid and filtered proteins from the interstitial space and returns that back to the vasculature. Any disturbance in this delicate homeostasis that results in net filtration out of the vascular space or impaired return of fluid by lymphatics leads to the accumulation of fluid in the interstitial space that is called edema. Edema can affect any part of the body and ranges from local swelling to full-blown anasarca, depending on the underlying pathology. A classic example of local swelling is an insect bite. An example of anasarca can be seen in nephrotic syndrome.[1] Edema, other than localized edema, does not become clinically apparent until the interstitial volume has increased by 2.5 to 3 liters because the tissues constituting the interstitium can easily accommodate several liters of fluid. Therefore, a patient's weight may increase by nearly 10% before pitting edema is evident.
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Introduction Lipoedema is a chronic feminine disease with disproportional painful fat deposition of the lower body half and occassional arm affection. Aim: The objective of the present study was to assess LA volumetric and functional properties by three-dimensional speckle-tracking...
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The thigh lift procedure is one of the 5 most requested procedures associated with skin excess from massive weight loss (MWL). The procedure also has the highest reported complication rate amongst MWL procedures. The complication rate is most commonly associated with regional blood flow, higher bacterial involvement associated with proximity to the perineal region and poor-quality dermal thickness to support closure. Technical aspects of ideal management of the region include proper use of lipoplasty, skin excision, multi-layer tissue approximation and suspension. The following chapter reviews the regional anatomy, analysis, and the range of surgical techniques associated with this challenging procedure.
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Objective Lipedema is an inflammatory subcutaneous adipose tissue disease that develops in women and may progress to lipolymphedema, a condition similar to lymphedema, in which lymphatic dysfunction results in irresolvable edema. Because it has been shown that dilated lymphatic vessels, impaired pumping, and dermal backflow are associated with presymptomatic, cancer-acquired lymphedema, this study sought to understand whether these abnormal lymphatic characteristics also characterize early stages of lipedema prior to lipolymphedema development. Methods In a pilot study of 20 individuals with Stage I or II lipedema who had not progressed to lipolymphedema, lymphatic vessel anatomy and function in upper and lower extremities were assessed by near-infrared fluorescence lymphatic imaging and compared with that of a control population of similar age and BMI. Results These studies showed that, although lower extremity lymphatic vessels were dilated and showed intravascular pooling, the propulsion rates significantly exceeded those of control individuals. Upper extremity lymphatics of individuals with lipedema were unremarkable. In contrast to individuals with lymphedema, individuals with Stage I and II lipedema did not exhibit dermal backflow. Conclusions These results suggest that, despite the confusion in the diagnoses between lymphedema and lipedema, their etiologies differ, with lipedema associated with lymphatic vessel dilation but not lymphatic dysfunction.
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