Hypermobility: When being flexible may not be such a good thing after all

Performance artist Roxani Eleni Garefalaki, from Greece, suffered for years with joint pain and extreme tiredness - which turned out to be a rare disease. This is her story.
Source: the Mail online | Health - Category: Consumer Health News Source Type: news

Related Links:

AbstractA 54-year-old man was admitted to our hospital with a painful left axillary mass. He had a 27-year history of hemodialysis for end-stage kidney disease because of chronic glomerulonephritis. He had a right radial artery –cephalic vein arteriovenous fistula and left nonfunctioning arteriovenous fistula. Computed tomography imaging showed a left axillary arterial mass with peripheral hematoma and multiple lung tumors. On hospital day 3, he showed disturbances in consciousness as well as enlargement of the axillary mass and hematoma. We performed emergency surgery to resect the left axillary tumor. The patient w...
Source: CEN Case Reports - Category: Urology & Nephrology Source Type: research
We report a rare case of visceral myopathy in a child presenting with intraabdominal mass. We aimed to describe ultrasound, computed tomography and magnetic resonance enterography findings of this rare disease that has not been demonstrated before. Differential diagnosis of mural thickening with distinguishable layers in addition to intestinal dilatation in the absence of mesenteric inflammation includes visceral myopathy. PMID: 31559733 [PubMed - in process]
Source: The Turkish Journal of Pediatrics - Category: Pediatrics Authors: Tags: Turk J Pediatr Source Type: research
We reported a 41-year old female Turkish patient diagnosed as Blau syndrome. Granulomatous dermatitis and severe headache, as well as recurrent chest and pelvic pain have been present since she was 8 years old. Arthritis started when she was teenage, hypertension diagnosed when she was 20 and other symptoms also occurred during the lifetime (severe preeclampsia, ischemic stroke, recurrent hemiparesis, recurrent-transient-vision-loss and renal-artery-stenosis). Genomic DNA was isolated from peripheral blood and 12 genes sequenced in Autoinflammatory panel on IonTorrent-S5-NGS platform with Parseq-VariFind™AIPas...
Source: Autoimmunity - Category: Allergy & Immunology Tags: Autoimmunity Source Type: research
ConclusionJejunoileal diverticulosis is a rare disease with life-threatening complications such as perforation, obstruction and bleeding, it is usually asymptomatic or presents with nonspecific symptoms. It should be considered in the differential diagnosis of acute abdomen
Source: International Journal of Surgery Case Reports - Category: Surgery Source Type: research
Authors: Amatya B, Young J, Khan F Abstract The aim of this commentary is to discuss the rehabilitation perspective in the recently published Cochrane Review "Non-pharmacological interventions for chronic pain in multiple sclerosis" by Amatya, Young &Khan.1, under the direct supervision of Multiple Sclerosis and Rare Diseases of the CNS group. This Cochrane Corner is produced in agreement with "NeuroRehabilitation" by Cochrane Rehabilitation. PMID: 31498133 [PubMed - as supplied by publisher]
Source: NeuroRehabilitation - Category: Rehabilitation Tags: NeuroRehabilitation Source Type: research
We report herein 63 cases of accessory nerve schwannomas, which include 62 cases reported from the literature review and a new case reported herein. This review characterizes a rare disease and increases awareness of this disease among neurologists and otolaryngologists.
Source: Interdisciplinary Neurosurgery - Category: Neurosurgery Source Type: research
We report a rare case of mandibular condyle unifocal HL mimicking a temporomandibular joint disorder. CASE REPORT: A 44-year-old patient presented with a left temporomandibular disorder with painful left preauricular swelling. The imaging assessment found a bone lesion of the left mandibular condyle. A curettage with biopsy was used to diagnose HL. Six months later, the patient had no more pain. DISCUSSION: The craniofacial clinical expressions of HL mainly concern the bones, which can cause: pain, swelling, fracture, compression of noble organs. The other sites are: oral cavity, skin, lymph nodes, or eyes. Isolate...
Source: Revue de Medecine Interne - Category: Internal Medicine Tags: Rev Med Interne Source Type: research
Abstract Erythromelalgia is a rare disease that is associated with hemato-oncological diseases or after taking certain drugs and toxins, but it can also occur as an independent clinical picture, for example, due to mutations in the sodium channel NaV1.7. Clinically, there is a characteristic triad of attack-like burning pain and skin redness in the area of the distal extremities, which can be alleviated by excessive cooling. The attacks are triggered by heat, exertion, and stress. The diagnosis is primarily made clinically and can be confirmed by genetic testing if a sodium channel NaV1.7 mutation is present. Impo...
Source: Schmerz - Category: Anesthesiology Authors: Tags: Schmerz Source Type: research
Multivitamins, drugs, gene therapies, human skin, heart, eyeballs, kidneys, entire dead bodies – everything comes with a price tag. Putting aside the moral questions of why and how come that the capitalist market priced even our body parts and health, we asked the question of how much is life worth: what is the maximum that you would/should pay for a life-saving drug? How high is too high a cost if a drug can save 200-300 babies a year from debilitating illness or death? And ultimately, does the pricing of new technologies, especially gene therapies, enable to fulfill their promise? There’s a price for ever...
Source: The Medical Futurist - Category: Information Technology Authors: Tags: Bioethics Biotechnology Future of Pharma Genomics cost daraprim drug drug price Gene gene therapy genetics insulin life medication pricing policy rare disease rare disorder Source Type: blogs
Annals of the American Thoracic Society,Volume 16, Issue 9, Page 1195-1197, September 2019.
Source: Annals of the American Thoracic Society - Category: Respiratory Medicine Authors: Source Type: research
More News: Greece Health | Health | Pain | Rare Diseases