Singer Sia Has Chronic Pain and Genetic Disorder

Ehlers-Danlos syndrome affects connective tissues that support the skin, bones, blood vessels and other organs and tissues, according to the U.S. National Institutes of Health.
Source: WebMD Health - Category: Consumer Health News Source Type: news

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Abstract Ehlers-Danlos syndrome (EDS) is a connective tissue disorder characterized by joint hypermobility and skin extensibility and is often accompanied by chronic pain. Rhythmic sensory stimulation (RSS) can be defined as the stimulation of the senses in a periodic manner within a range of low frequencies. Music plus sound delivered through a vibroacoustic device is a form of RSS and has demonstrated utility in managing pain. In this current study, we conducted an open-label pilot study of 15 patients with hypermobile EDS using RSS as the intervention. Posttreatment improvements were seen in 11 of the 15 patien...
Source: Pain Research and Management - Category: Anesthesiology Authors: Tags: Pain Res Manag Source Type: research
In this study we provide clinical and molecular presentation of two new patients with DSE related mcEDS. Analysing clinical exome data, a homozygous pathogenic DSE variant, c.1150_1157del p.(Pro384Trpfs*9), was identified in a 32 year old man with bilateral congenital talipes equinovarus, characteristic facial features, myopia, hyperextensible skin at the elbows, significant palmar wrinkling, bilateral inguinal hernias and chronic leg, back and joint pain. Electron microscopical examination of skin biopsy showed changes consistent with mild compensatory elastic fibre hypertrophy and mildly loose collagen bundles. The varia...
Source: European Journal of Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Eur J Med Genet Source Type: research
Australian singer/songwriter Sia (born Sia Kate Isobelle Furler), 43, is known for wearing elaborate wigs and headpieces that hide her face. However, the“Chandelier” singer is not hiding the fact that she was recently diagnosed with the connective tissue disorder Ehlers-Danlos syndrome. In a  tweet, Sia wrote:“Hey, I’m suffering with chronic pain, a neurological disease, […]Find jobs at  Careers by KevinMD.com.  Search thousands of physician, PA, NP, and CRNA jobs now.  Learn more.
Source: Kevin, M.D. - Medical Weblog - Category: General Medicine Authors: Tags: Conditions Rheumatology Source Type: blogs
Ehlers-Danlos syndrome affects connective tissues that support the skin, bones, blood vessels and other organs and tissues, according to the U.S. National Institutes of Health.
Source: WebMD Health - Category: Consumer Health News Source Type: news
Lori Pinkley, a 50-year-old from Kansas City, Mo., has struggled with puzzling chronic pain since she was 15. She has had countless disappointing visits with doctors. Some said they couldn ’t help her. Others diagnosed her with everything from fibromyalgia to lipedema to the rare Ehlers-Danlos syndrome. Pinkley has taken opioids a few times after surgeries, but they never helped her […]Find jobs at  Careers by KevinMD.com.  Search thousands of physician, PA, NP, and CRNA jobs now.  Learn more.
Source: Kevin, M.D. - Medical Weblog - Category: General Medicine Authors: Tags: Meds Medications Pain Management Source Type: blogs
Lori Pinkley, a 50-year-old from Kansas City, Mo., has struggled with puzzling chronic pain since she was 15.She's had endless disappointing visits with doctors. Some said they couldn't help her. Others diagnosed her with everything from fibromyalgia to lipedema to the rare Ehlers-Danlos syndrome.Pinkley has taken opioids a few times after surgeries but says they never helped her underlying pain."I hate opioids with a passion," Pinkley says."An absolute passion."Recently, she joined a growing group of patients using an outside-the-box remedy: naltrexone. It is usually used to treat addiction, in...
Source: Psychology of Pain - Category: Anesthesiology Source Type: blogs
Abstract Joint hypermobility syndrome (JHS) (also termed hypermobility type Ehlers-Danlos syndrome, hEDS) is a heritable connective tissue disorder that is characterized by generalized joint hypermobility, chronic pain, fatigue, and minor skin changes. Initially, it was reported that there is a small subset of patients with JHS/hEDS who have haploinsufficiency of tenascin-X (TNX). However, the relationship between TNXB and JHS/hEDS has not been reported at all afterwards. EDS was reclassified into thirteen types in 2017, and the causative gene of JHS/hEDS remained to be identified. Therefore, in this study in orde...
Source: Biological and Pharmaceutical Bulletin - Category: Drugs & Pharmacology Authors: Tags: Biol Pharm Bull Source Type: research
AbstractEhlers –Danlos syndromes (EDS) are a genetically heterogeneous group of inherited connective tissue disorders classified into six major types with a variable collection of findings and different inheritance patterns. Although complications occur in about one-half of pregnancies in women with EDS, the maj ority can have a good outcome if managed appropriately. Classic EDS is characterized by joint hypermobility, loose skin with poor healing and easy bruising, musculoskeletal problems with chronic pain and at risk for pre-term delivery. In addition, the vascular form of EDS can have cardiac anomalies, aneurysms...
Source: Archives of Gynecology and Obstetrics - Category: OBGYN Source Type: research
Abstract Hypermobility Spectrum Disorder (HSD) and hypermobile Ehlers-Danlos Syndrome (hEDS) can cause widespread or chronic pain, fatigue, proprioceptive and coordination deficits resulting in functional restrictions. These conditions are common and often unrecognized, and patients are likely to present in physical therapy for musculoskeletal injuries, pain, or coordination deficits. Although physical therapy is considered central to managing these conditions, many patients report pain and iatrogenic injuries due to inappropriate interventions. The diagnostic classification for these conditions was revised in 201...
Source: Physical Therapy - Category: Physiotherapy Authors: Tags: Phys Ther Source Type: research
​BY JENNIFER TUONG; IVAN KHARCHENKO; JEAN LUC AGARD; &AHMED RAZIUDDIN, MDA 65-year-old man who had HIV well-controlled with highly active antiretroviral therapy, hypertension, sciatica, and restless leg syndrome presented to the emergency department with left leg pain. He also had had chemotherapy and radiation for anal cancer. The patient said the pain had started 45 minutes earlier when he was sitting on the toilet.He described the pain as sore in quality and 10/10 on the pain scale. He reported that it had started in his lower back and radiated to his left leg. He said he had had no trauma or weakness to the regio...
Source: The Case Files - Category: Emergency Medicine Tags: Blog Posts Source Type: research
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