Ehlers Danlos and POTS links January 22, 2013

Have any of you with Postural Orthostatic Tachycardia Syndrome gotten the flu? If so, how bad did it get for you? Thanks.

• Genetic dissection of marfan syndrome and related connective tissue disorders: an update 2012. [Full Text]
• Gynecologic disorders and menstrual cycle lightheadedness in postural tachycardia syndrome. [abstract]
• Rare Disease Day at NIH 2013 (Day 1) Thursday, February 28, 2013, 8:00:00 AM EST [NIH Videocast]
• Rare Disease Day at NIH 2013 (Day 2) Friday, March 01, 2013, 8:00:00 AM EST [NIH Videocast]
• The young woman who dislocates her shoulder every time she SNEEZES… up to 10 times a day [Full Text]
• Don’t open wide: Annual check-ups are pretty much useless [Full Text]
• Jury acquits woman of vehicular manslaughter in Riverside death (was on painkillers for EDS) [Full Text]
• Stress urinary incontinence as the presenting complaint of benign joint hypermobility syndrome [Full Text]
• Santa Rosa couple’s love persists throughout health scares [Full Text]
• ‘The pain is still there’ [Full Text]
• Pregnancy in postural tachycardia syndrome: clinical course and maternal and fetal outcomes. [abstract]

Ehlers Danlos and POTS links January 15, 2013

• Tenascin-X Haploinsufficiency Associated with Ehlers-Danlos Syndrome in Patients with Congenital Adrenal Hyperplasia. [abstract]
• The Collagen Family [Full Text]
• Demystifying Medicine 2013-The Mitochondrion and Its Diseases Tuesday, April 30, 2013, 4:00:00 PM [NIH]
• Demystifying Medicine 2013-Pain: How It Happens and What Can Be Done? Tuesday, February 12, 2013, 4:00:00 PM
• Demystifying Medicine 2013-Ticks: Lyme and Other Diseases Tuesday, March 19, 2013, 4:00:00 PM [NIH]
• Anaesthesia for vascular emergencies [pdf]
• New York City to Restrict Prescription Painkillers in Public Hospitals’ Emergency Rooms [Full Text]
• FDA panel votes to eliminate Vicodin, Percocet [Full Text]
• Decreased bone mineral density and periodontal management [Full Text]
• Neuromuscular properties of the thigh muscles in patients with ehlers–danlos syndrome [Full Text]
• Nitric Oxide and Regulation of Heart Rate in Patients With Postural Tachycardia Syndrome and Healthy Subjects. [abstract]
• Treatment of a patient with vertebral and subclavian aneurysms in the setting of a TGFBR2 mutation. [abstract]
• Clinical heterogeneity in patients with the hypermobility type of Ehlers-Danlos Syndrome. [abstract]
• Thoracic Aortic Dissection [Full Text]
• Tissue-Specific Responses to Loss of Transglutaminase 2 [Full Text]
• Midterm Results of David Reimplantation in Patients With Connective Tissue Disorder. [abstract]
• The Management of Ehlers-Danlos Syndrome [book from EDS Support UK]

Ehlers Danlos and POTS links January 10, 2012

• Vote: The Rare Disease Champion Award “…is given to a leader in college football, individual or organization, who has realized his or her potential to make a positive and lasting impact on the rare disease community.” [full text]
• Limb dislocation: Phoebe Bruce’s Ehlers-Danlos syndrome treatment [full text]
• Audio: Phoebe Bruce’s Ehlers-Danlos syndrome treatment [sound]
• Dysautonomia and Vascular Abnormalities
• Letter to the Editor: Surgical Recommendations in Ehlers-Danlos Syndrome(s) Need Patient Classification: The Example of Ehlers-Danlos Syndrome Hypermobility Type (a.k.a. Joint Hypermobility Syndrome) [PDF]
• Letter to the Editor Reply: Surgical Recommendations in Ehlers-Danlos Syndrome(s) Need Patient Classification: The Example of Ehlers-Danlos Syndrome Hypermobility Type (a.k.a. Joint Hypermobility Syndrome) [PDF]
• Treatment of myofascial pain [abstract]
• UAB study finds optimism benefits pain sufferers [full text]
• The fibrillin-1 hypomorphic mgR/mgR murine model of Marfan syndrome shows severe elastolysis in all segments of the aorta [abstract]

 

Ehlers Danlos and POTS links January 6, 2013

• The Bellmawr resident writes edgy, melodic rock songs with titles like “Palinopsia,” the name for an optical disturbance that’s among the debilitating symptoms of Ehlers-Danlos Syndrome. [Full Text]
• The family is trying to raise $13,000 to buy a specially trained dog from “4 Paws for Ability.” [Full Text]
• Tenascin-X Haploinsufficiency Associated with Ehlers-Danlos Syndrome in Patients with Congenital Adrenal Hyperplasia. [Abstract]
• Emily Skerrett was left disabled after two pregnancies – but it did not stop her founding her own business providing reusable nappies [Full Text]
• NIH Image Library links to search results for “Ehlers Danlos Syndrome” [Full Text]
• NIH Image Library links to search results for postural tachycardia [Full Text]

Ehlers Danlos and POTS links January 2, 2013

Happy 2013 hope it is a great year for you, with good pain control and a lot of support. 🙂
 

• Deconditioning in patients with orthostatic intolerance [pdf]
• ‘David Cameron got involved and council’s attitude to care changed’ [Full Text]
• The heroes of 2012 [Full Text]
• Hawarden teenager who suffers up to 18 limb dislocations to get specialist help [Full Text]
• COL4A2 Mutations Impair COL4A1 and COL4A2 Secretion and Cause Hemorrhagic Stroke [Full Text]
• [A case of postural orthostatic tachycardia syndrome (POTS) with difficulties in differentiation from hypoglycemic attack]. [abstract]
• Influence of Genetics and Mechanical Properties on Large Arteries in Man [pdf]
• The cell biology of genomes: From fundamentals to disease Wednesday, April 10, 2013, 3:00:00 PM [NIH videocast]
• Navigating the cellular landscape with new optical probes, imaging strategies and technical innovations Wednesday, June 12, 2013, 3:00:00 PM [NIH videocast]
• HOPE. I have HOPE. [Full Text]
• Genetic therapies for genetic disease: Results and lessons from recent successes Wednesday, May 29, 2013, 3:00:00 PM [NIH videocast]
• ABC transporters: Nature’s favorite pump Air date: Wednesday, May 22, 2013, 3:00:00 PM [NIH videocast]
• Best Ankle Braces Ever [Full Text]
• Sympathetic nervous system activity in health and disease—advances with microneurographic recordings [Full Text]
• Parametric study of effects of collagen turnover on the natural history of abdominal aortic aneurysms [abstract]
• Prolapse and sexual function in women with benign joint hypermobility syndrome [Full Text]
• Concentric visual field defect related to spontaneous intracranial hypotension. [abstract]
• Nanomechanics of Proteins, Both Folded and Disordered [abstract]

 

 

Ehlers Danlos and POTS links December 21, 2012

Merry Christmas everyone. Hope you all have a pain-free and vertical 2013.

• A young Saugerties boy diagnosed with a rare syndrome that results in regular ER visits got bored during hospital stays and decided to do something to cheer up fellow patients. [Full Text]
• FDA Drug Safety Communication: Updated information on 32 mg intravenous ondansetron (Zofran) dose and pre-mixed ondansetron products “The U.S. Food and Drug Administration (FDA) is notifying health care professionals that the 32 mg, single intravenous (IV) dose of the anti-nausea drug Zofran (ondansetron hydrochloride) will no longer be marketed because of the potential for serious cardiac risks.”
• Qualitest Issues Voluntary, Nationwide Recall of 101 Lots of Hydrocodone Bitartrate and Acetaminophen Tablets, Usp 10 Mg/500 Mg Due to the Potential for Oversized Tablets [Full Text]
• A Disease Threatens a Woman’s Eyesight and Art [Full Text]
• Local girl gets special wish [Full Text]
• Parents appeal to province to cover daughter, Erika Crawford’s life-saving surgery [Full Text]
• Ehlers Danlos Syndrome sufferer walking upright after Maryland surgery [Full Text]
• Gene Expression Analysis of the Pleiotropic Effects of TGF-β1 in an In Vitro Model of Flexor Tendon Healing [Full Text]
• Successful Coronary Artery Bypass in Ehlers-Danlos Type IV Syndrome Case Report and Review of the Literature. [Full Text]
• Impact of Mendelian Inheritance in Cardiovascular Disease [Full Text]
• Measuring regularity of human postural sway using approximate entropy and sample entropy in patients with Ehlers-Danlos syndrome hypermobility type. [abstract]
• Postural orthostatic tachycardia syndrome associated with multiple sclerosis. [abstract]
• Women with Ehlers-Danlos syndrome experience low oral health-related quality of life [abstract]
• Familial retinal detachment associated with COL2A1 exon 2 and FZD4 mutations. [abstract]
• [Postural orthostatic tachycardia syndrome (POTS): report of 15 cases]. [abstract]
• Update on the theory and management of orthostatic intolerance and related syndromes in adolescents and children. [abstract]
• Successful Coronary Artery Bypass in Ehlers-Danlos Type IV Syndrome Case Report and Review of the Literature [Full Text]
• Predictors of orthostatic hypotension in patients attending a transient ischaemic attack clinic: Database study [abstract]
• Type IV Ehlers-Danlos syndrome presenting as recurrent, bilateral carotid dissections [abstract]
• Postural tachycardia syndrome: a heterogeneous and multifactorial disorder. [abstract]
• The role of benign joint hypermobility in the pain experience in Juvenile Fibromyalgia: an observational study [Full Text]
• Efficacy of manual therapy treatments for people with cervicogenic dizziness and pain: protocol of a randomised controlled trial [Full Text]
• The Arterial Baroreflex Resets with Orthostasis [Full Text]
• Cerebrovascular autoregulation: lessons learned from spaceflight research. [PDF]
• Immunolocalization of Different Collagens in the Cornea of Human Fetal Eyes: A Developmental Approach. [abstract]
• Ehlers-Danlos Syndrome, Hypermobility Type: An Underdiagnosed Hereditary Connective Tissue Disorder with Mucocutaneous, Articular, and Systemic Manifestations [Full Text]
• Direct Assessment of Articular Cartilage and Underlying Subchondral Bone Reveals a Progressive Gene Expression Change in Human Osteoarthritic Knees. [abstract]
• Severe conjunctivochalasis in association with classic type Ehlers-Danlos syndrome [PDF]
• Heritable collagen disorders: the paradigm of the ehlers-danlos syndrome [Full Text]
• Spontaneous dissection of the coronary and vertebral arteries post-partum: case report and review of the literature [Full Text]
• Compromised cerebrovascular modulation in chronic anxiety: evidence from cerebral blood flow velocity measured by transcranial Doppler sonography. [abstract]
• My Wife Had EDS and Did Not Know it! [Full Text]
• Living and working with Ehlers Danlos Syndrome/Hypermobility Syndrome [Full Text]

 

Ehlers Danlos and POTS links December 20, 2012

Sorry there’s been a lack of updates. It’s been a bit rough.

• Low Bone Mass in Ehlers-Danlos Syndrome [full text]
• Evolutionary divergence and functions of the ADAM and ADAMTS gene families [full text]
• Exploiting potency of negative pressure in wound dressing using limited access dressing and suction-assisted dressing [full text]
• A Physician Tries to Make Sense of Sandy Hook [full text]
• Lysine post-translational modifications of collagen [full text]
• A case of mosaic Ehlers–Danlos syndrome [abstract]
• Cardiac valve disease: an unreported feature in Ehlers Danlos syndrome arthrocalasia type? [full text]
• Ehlers-Danlos Syndrome, Hypermobility Type: An Underdiagnosed Hereditary Connective Tissue Disorder with Mucocutaneous, Articular, and Systemic Manifestations [full text]
• The Dermatan Sulfate Proteoglycan Decorin Modulates α2β1 Integrin and the Vimentin Intermediate Filament System during Collagen Synthesis [full text]
• A pictorial review of acute aortic syndrome: discriminating and overlapping features as revealed by ECG-gated multidetector-row CT angiography [full text]
• Laparoscopic management of colonic complications in Ehlers-Danlos syndrome type IV.
  [abstract]
• Chronic Cough in Musculoskeletal disorders: Using high resolution oesophageal manometry in search of an Aetiology [full text]
• Video capsule endoscopy findings in Ehlers-Danlos syndrome with recurrent gastrointestinal bleeding. [abstract]
• Ehlers-Danlos syndrome, vascular type: A novel missense mutation in the COL3A1 gene. [pdf]
• Neuromuscular properties of the thigh muscles in patients with ehlers-danlos syndrome. [abstract]
• Ehlers–Danlos syndrome: correlation with headache disorders in a young woman [pdf]
• Absence of TGFBR2 mutations in patients with spontaneous spinal CSF leaks and intracranial hypotension [full text]
• Diagnosing postural tachycardia syndrome: comparison of tilt testing compared with standing haemodynamics. [abstract]
• Syndromes of orthostatic intolerance: a hidden danger. [abstract]
• Evaluation of lower limb disability in joint hypermobility syndrome. [abstract]
• Eponymous signs in dermatology [full text]
• Similarities in stress physiology among patients with chronic pain and headache disorders: evidence for a common pathophysiological mechanism? [full text]
• Comprehensive analysis of LAMC1 genetic variants in advanced pelvic organ prolapse [full text]
• Electromyographic activity of pelvic and lower limb muscles during postural tasks in people with benign joint hypermobility syndrome and non hypermobile people. A pilot study [full text]
• Massage Therapy for Cervical Degenerative Disc Disease: Alleviating a Pain in the Neck? [full text]
• Clinical characteristics of a novel subgroup of chronic fatigue syndrome patients with postural orthostatic tachycardia syndrome [abstract]
• Fibromyalgia Syndrome: Etiology, Pathogenesis, Diagnosis, and Treatment [full text]
• Obstructive Sleep Apnea Hypopnea Syndrome [full text]
• Norepinephrine: the next therapeutics frontier for Parkinson’s disease [full text]
• Headache in cerebral venous thrombosis: incidence, pattern and location in 200 consecutive patients [full text]
• Abnormal gastric myoelectrical activity in postural tachycardia syndrome. [abstract]
• Endovascular Repair of an Iliac Arteriovenous Fistula Secondary to Perforation From a Common Iliac Aneurysm in a Patient With Ehler–Danlos Syndrome [abstract]
• [pdf]
• Promotion of vesicular zinc efflux by ZIP13 and its implications for spondylocheiro dysplastic Ehlers-Danlos syndrome. [abstract]
• Differences in motor and cognitive function in patients with Parkinson’s disease with and without orthostatic hypotension. [abstract]
• Suppression of cardiocirculatory responses to orthostatic stress by passive walking-like leg movement in healthy young men [full text]

 

Ehlers Danlos and POTS links October 30, 2012

• Pectus excavatum and MASS phenotype: an unknown association. [abstract]
• Light and Electron Microscopy of Classical Ehlers-Danlos Syndrome [abstract]
• Suspected collagen disorders in the bleeding disorder clinic: A case–control study [abstract]
• Comprehensive Mass Spectrometric Mapping of the Hydroxylated Amino Acid residues of the α1(V) Collagen Chain. [PDF]
• Twenty-Four-Hour Urinary Sodium Excretion and Postural Orthostatic Tachycardia Syndrome [abstract]
• Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A. [abstract]
• Pulmonary Circulation at Exercise [full text]
• Epigenetic modification of the norepinephrine transporter gene in postural tachycardia syndrome. [abstract]
• Modified Calgary score in differential diagnosis between cardiac syncope and postural orthostatic tachycardia syndrome-associated syncope in children. [abstract]
• Dermal Ultrastructure in Low Beighton Score Members of 17 Families with Hypermobile-Type Ehlers-Danlos Syndrome [full text]
• Spontaneous Bilateral Hemothoraces in Type IV Ehlers-Danlos Syndrome [abstract]
• Midregional pro-adrenomedullin as a predictor for therapeutic response to midodrine hydrochloride in children with postural orthostatic tachycardia syndrome. [abstract]
• Gastrointestinal Surgery and Related Complications in Patients with Ehlers-Danlos Syndrome: A Systematic Review. [abstract]
• A prospective, 1-year follow-up study of postural tachycardia syndrome. [abstract]
• Melatonin does not attenuate dynamic cardiovascular and cerebrovascular reflex responses to acute hypotension in healthy men [full text]
• Pediatric Heart Disease: A Clinical Guide
• Ehlers-Danlos with disease of the aorta and mitral valve [abstract]
• Occlusive vascular Ehlers–Danlos syndrome accompanying a congenital cystic adenomatoid malformation of the lung: report of a case [full text]
• distinguishing between the phenotypes of Marfan syndrome and Loeys-Dietz syndrome is sometimes not possible, especially when the disease is first diagnosed and in adult patients.
• Muscle–tendon tissue properties in the hypermobility type of Ehlers‐Danlos syndrome [PDF]
• Vascular Complications of Ehlers-Danlos Syndrome: CT Findings [full text]

Ehlers Danlos and POTS links October 2, 2012

• My experience at the Paralympics [blog]
• Well Mrs R, it seems you have a bad case of FUBAR. [blog]
• NIH Director’s Wednesday Afternoon Lecture Series: October 3, 2012 “Mitochondria: dynamic organelles critical for human health” [videocast]
• Calling All Woman Haters [blog]
• POTS: The Basics [blog]
• Video: Diagnosing Dysautonomia!, Dr. Diana [blog]
• Evaluation and Management of Posterior Shoulder Instability [full text]
• COL4A1 and COL4A2 mutations and disease: insights into pathogenic mechanisms and potential therapeutic targets [full text]
• Porous Collagen Scaffold Reinforced with Surfaced Activated PLLA Nanoparticles [full text]
• Fascia: a morphological description and classification system based on a literature review [full text]
• Learning on Jupiter, learning on the Moon: the dark side of the G-force. Effects of gravity changes on neurovascular unit and modulation of learning and memory [full text]
• Mitochondrial Mutations are Associated with Atherosclerotic Lesions in the Human Aorta [full text]

Ehlers Danlos and POTS links September 30, 2012

It’s finally cooled off here, after a brutally hot summer. Maybe now I can go out and actually do some stuff. 🙂

• New frontiers in the pathophysiology of myofascial pain [pdf]
• Risk factors and clinical presentation of craniocervical arterial dissection: A prospective study [Full Text]
• Etiology of Myofascial Trigger Points[Full Text]
• No association between COL3A1, COL6A1 or COL12A1 gene variants and range of motion. [abstract]
• Collagen gene variants previously associated with anterior cruciate ligament injury risk are also associated with joint laxity. [abstract]
• OHIP won’t cover Brantford teen’s life-saving surgery [journalism]
• Ontario turns its back on ailing teen [journalism]
• Teen’s rare disorder not covered by OHIP [journalism]
• Paralympic sculling dreams of intravenously-fed woman [journalism]
• Chronic treatment with a broad-spectrum metalloproteinase inhibitor, doxycycline, prevents the development of spontaneous aortic lesions in a mouse model of vascular ehlers-danlos syndrome. [pdf]
• Identification of a novel ZNF469 mutation in a large family with Ehlers-Danlos phenotype. [abstract]
• Autopsy confirmed multiple system atrophy cases: Mayo experience and role of autonomic function tests [full text]
• Double-barrel extracranial-intracranial bypass surgery followed by endovascular carotid artery occlusion in a patient with an extracranial giant internal carotid artery aneurysm due to Ehlers-Danlos syndrome. [abstract]
• Deconditioning in patients with orthostatic intolerance. [abstract]
• Orthostatic Tremor Inducing Instability [full text]
• Re-assigned diagnosis of D4ST1-deficient Ehlers-Danlos syndrome (adducted thumb-clubfoot syndrome) after initial diagnosis of Marden-Walker syndrome. [abstract]
• Spontaneous Brachial Pseudo-aneurysm in a 12-year-old with Kyphoscoliosis-type Ehlers-Danlos Syndrome. [abstract]
• Correspondence (letter to the editor): Unanswered Questions [full text]
• The Conductor of the Autonomic Orchestra [full text]
• Adolescent chronic fatigue syndrome; a follow-up study displays concurrent improvement of circulatory abnormalities and clinical symptoms [full text]
• Arterial baroreflex control of muscle sympathetic nerve activity under orthostatic stress in humans [full text]
• Quick and Simple Evaluation of Sudomotor Function for Screening of Diabetic Neuropathy [full text]
• Duloxetine in the management of chronic musculoskeletal pain [full text]
• Long-term follow-up of choroidal neovascularization secondary to angioid streaks: case series and literature review [full text]
• Compression leggings modestly affect cardiovascular but not cerebrovascular responses to heat and orthostatic stress in young and older adults. [abstract]
• Compression garments do not alter cerebrovascular responses to orthostatic stress after mild passive heating. [abstract]
• Contribution of Social Isolation, Restraint, and Hindlimb Unloading to Changes in Hemodynamic Parameters and Motion Activity in Rats [full text]
• Legal Medicine: Respiratory complications of Ehlers–Danlos syndrome type IV [abstract]
• Knee function in 10-year-old children and adults with Generalised Joint Hypermobility [abstract]
• Pain, balance, activity, and participation in children with hypermobility syndrome. [abstract]
• Diagnosing postural tachycardia syndrome: comparison of tilt testing compared with standing haemodynamics. [abstract]
• Connective tissue spectrum abnormalities associated with spontaneous cerebrospinal fluid leaks: a prospective study. [abstract]
• Orthostatic intolerance: postural orthostatic tachycardia syndrome with overlapping vasovagal syncope. [pdf]
• Case Report: Severe conjunctivochalasis in association with classic type Ehlers-Danlos syndrome [pdf]
• Peptides in Postural Orthostatic Tachycardia Syndrome Players or Epiphenomena? [pdf]
• Midregional Pro-Adrenomedullin as a Predictor for Therapeutic Response to Midodrine Hydrochloride in Children With Postural Orthostatic Tachycardia Syndrome [full text]
• Duplication of the left vertebral artery in a patient with dissection of the right internal carotid artery and Ehlers-Danlos syndrome: case report and review of the literature. [abstract]
• Vitamin C for attenuating postherpetic neuralgia pain: an emerging treatment alternative [full text]
• Spontaneous Right Coronary Artery Dissection Causing Myocardial Infarction in a 36-Year-Old Woman [full text]