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Orthostatic intolerance

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https://www.readbyqxmd.com/read/28431150/the-natural-history-of-children-with-joint-hypermobility-syndrome-and-ehlers-danlos-hypermobility-type-a-longitudinal-cohort-study
#1
Mark C Scheper, Lesley L Nicholson, Roger D Adams, Louise Tofts, Verity Pacey
Objectives.: The objective of the manuscript was to describe the natural history of complaints and disability in children diagnosed with joint hypermobility syndrome (JHS)/Ehlers-Danlos-hypermobility type (EDS-HT) and to identify the constructs that underlie functional decline. Methods.: One hundred and one JHS/EDS-HT children were observed over 3 years and assessed at three time points on the following: functional impairments, quality of life, connective tissue laxity, muscle function, postural control and musculoskeletal and multi-systemic complaints...
April 18, 2017: Rheumatology
https://www.readbyqxmd.com/read/28414396/postural-tachycardia-syndrome-diagnosis-and-management-in-adolescents-and-young-adults
#2
Geoffrey L Heyer
Postural tachycardia syndrome (POTS) represents a common form of orthostatic intolerance that disproportionately affects young women from puberty through adulthood. Patients with POTS have day-to-day orthostatic symptoms with the hallmark feature of an excessive, sustained, and symptomatic rise in heart rate during orthostatic testing. Although considerable overlap exists, three subtypes of POTS have been described: neuropathic, hyperadrenergic, and hypovolemic forms. The wide spectrum of symptoms and comorbidities can make treatment particularly challenging...
April 1, 2017: Pediatric Annals
https://www.readbyqxmd.com/read/28373858/enhanced-cholinergic-activity-improves-cerebral-blood-flow-during-orthostatic-stress
#3
Jorge M Serrador, Roy Freeman
Cerebral blood flow (CBF) and consequently orthostatic tolerance when upright depends on dilation of the cerebral vasculature in the face of reduced perfusion pressure associated with the hydrostatic gradient. However, it is still unclear if cholinergic activation plays a role in this dilation. To determine if enhancing central cholinergic activity with the centrally acting acetylcholinesterase inhibitor, physostigmine would increase CBF when upright compared to the peripherally acting acetylcholinesterase inhibitor, neostigmine, or saline...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28352654/net-silencing-by-let-7i-in-postural-tachycardia-syndrome
#4
Abdul Waheed Khan, Mark Ziemann, Susan J Corcoran, Harikrishnan K N, Jun Okabe, Haloom Rafehi, Scott S Maxwell, Murray D Esler, Assam El-Osta
While strongly implicated in postural tachycardia syndrome (POTS), considerable controversy exists regarding norepinephrine transporter (NET) loss of function. POTS is characterized by the clinical symptoms of orthostatic intolerance, lightheadedness, tachycardia, and syncope or near syncope with upright posture. Abnormal sympathetic nervous system activity is typical, of a type which suggests dysfunction of the NET, with evidence that the gene responsible is under tight epigenetic control. Using RNA of isolated chromatin combined with massive parallel sequencing (RICh-seq) we show that let-7i miRNA suppresses NET by methyl-CpG-binding protein 2 (MeCP2)...
March 23, 2017: JCI Insight
https://www.readbyqxmd.com/read/28351846/postural-heart-rate-changes-in-young-patients-with-vasovagal-syncope
#5
Marvin S Medow, Sana Merchant, Melissa Suggs, Courtney Terilli, Breige O'Donnell-Smith, Julian M Stewart
BACKGROUND AND OBJECTIVES: Recurrent postural vasovagal syncope (VVS) is caused by transient cerebral hypoperfusion from episodic hypotension and bradycardia; diagnosis is made by medical history. VVS contrasts with postural tachycardia syndrome (POTS), defined by chronic daily symptoms of orthostatic intolerance with excessive upright tachycardia without hypotension. POTS has recently been conflated with VVS when excessive tachycardia is succeeded by hypotension during tilt testing. We hypothesize that excessive tachycardia preceding hypotension and bradycardia is part of the vasovagal response during tilt testing of patients with VVS...
March 28, 2017: Pediatrics
https://www.readbyqxmd.com/read/28302133/activin-b-is-a-novel-biomarker-for-chronic-fatigue-syndrome-myalgic-encephalomyelitis-cfs-me-diagnosis-a-cross-sectional-study
#6
Brett A Lidbury, Badia Kita, Donald P Lewis, Susan Hayward, Helen Ludlow, Mark P Hedger, David M de Kretser
BACKGROUND: Investigations of activin family proteins as serum biomarkers for chronic fatigue syndrome/myalgic encephalomyelitis (CFS/ME). CFS/ME is a disease with complex, wide-ranging symptoms, featuring persistent fatigue of 6 months or longer, particularly post exertion. No definitive biomarkers are available. METHODS: A cross-sectional, observational study of CFS/ME patients fulfilling the 2003 Canadian Consensus Criteria, in parallel with healthy non-fatigued controls, was conducted...
March 16, 2017: Journal of Translational Medicine
https://www.readbyqxmd.com/read/28286774/orthostatic-intolerance-and-postural-orthostatic-tachycardia-syndrome-in-joint-hypermobility-syndrome-ehlers-danlos-syndrome-hypermobility-type-neurovegetative-dysregulation-or-autonomic-failure
#7
Claudia Celletti, Filippo Camerota, Marco Castori, Federica Censi, Laura Gioffrè, Giovanni Calcagnini, Stefano Strano
Background. Joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type (JHS/EDS-HT), is a hereditary connective tissue disorder mainly characterized by generalized joint hypermobility, skin texture abnormalities, and visceral and vascular dysfunctions, also comprising symptoms of autonomic dysfunction. This study aims to further evaluate cardiovascular autonomic involvement in JHS/EDS-HT by a battery of functional tests. Methods. The response to cardiovascular reflex tests comprising deep breathing, Valsalva maneuver, 30/15 ratio, handgrip test, and head-up tilt test was studied in 35 JHS/EDS-HT adults...
2017: BioMed Research International
https://www.readbyqxmd.com/read/28243824/do-we-need-to-evaluate-diastolic-blood-pressure-in-patients-with-suspected-orthostatic-hypotension
#8
Artur Fedorowski, Viktor Hamrefors, Richard Sutton, J Gert van Dijk, Roy Freeman, Jacques Wm Lenders, Wouter Wieling
PURPOSE: The contribution of diastolic blood pressure measurement to the diagnosis of classical orthostatic hypotension is not known. We aimed to explore the prevalence of isolated systolic and diastolic orthostatic hypotension components in patients with syncope and orthostatic intolerance. METHODS: A total of 1520 patients aged >15 years with suspected syncope and/or symptoms of orthostatic intolerance were investigated in a tertiary center using tilt-table testing and continuous non-invasive blood pressure monitoring...
February 27, 2017: Clinical Autonomic Research: Official Journal of the Clinical Autonomic Research Society
https://www.readbyqxmd.com/read/28191707/mechanisms-underlying-reflux-symptoms-and-dysphagia-in-patients-with-joint-hypermobility-syndrome-with-and-without-postural-tachycardia-syndrome
#9
A Fikree, Q Aziz, D Sifrim
BACKGROUND: The joint hypermobility syndrome (JHS) is a common non-inflammatory connective tissue disorder which frequently co-exists with postural tachycardia syndrome (PoTS), a form of orthostatic intolerance. Gastrointestinal symptoms and dysmotility have been reported in PoTS. Dysphagia and reflux are common symptoms in JHS, yet no studies have examined the physiological mechanism for these, subdivided by PoTS status. METHODS: Thirty patients (28 female, ages: 18-62) with JHS and symptoms of reflux (n=28) ± dysphagia (n=25), underwent high-resolution manometry and 24 hour pH-impedance monitoring after questionnaire-based symptom assessment...
February 12, 2017: Neurogastroenterology and Motility: the Official Journal of the European Gastrointestinal Motility Society
https://www.readbyqxmd.com/read/28186393/chronic-fatigue-in-ehlers-danlos-syndrome-hypermobile-type
#10
Alan Hakim, Inge De Wandele, Chris O'Callaghan, Alan Pocinki, Peter Rowe
Chronic fatigue is an important contributor to impaired health-related quality of life in Ehlers-Danlos syndrome. There is overlap in the symptoms and findings of EDS and chronic fatigue syndrome. A proportion of those with CFS likely have EDS that has not been identified. The evaluation of chronic fatigue in EDS needs to include a careful clinical examination and laboratory testing to exclude common causes of fatigue including anemia, hypothyroidisim, and chronic infection, as well as dysfunction of major physiological or organ systems...
March 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28185102/effects-of-intermittent-intravenous-saline-infusions-in-patients-with-medication-refractory-postural-tachycardia-syndrome
#11
Mohammed Ruzieh, Aaron Baugh, Osama Dasa, Rachel L Parker, Joseph T Perrault, Anas Renno, Beverly L Karabin, Blair Grubb
BACKGROUND: The postural tachycardia syndrome (POTS) is a heterogeneous group of disorders that results in symptoms of orthostatic intolerance. Excess blood pooling has been observed to cause low effective circulating volume in the central vasculature. Consequently, acute volume loading with IV saline has emerged as a potential strategy for clinical intervention. We evaluated the impact of acute volume loading on both the signs and symptoms of patients suffering from POTS. METHODS: Fifty-seven subjects screened from our population of POTS patients and assenting to participation were administered the two surveys by telephone...
April 2017: Journal of Interventional Cardiac Electrophysiology: An International Journal of Arrhythmias and Pacing
https://www.readbyqxmd.com/read/28168561/health-related-quality-of-life-and-suicide-risk-in-postural-tachycardia-syndrome
#12
Cathy L Pederson, Jill Blettner Brook
PURPOSE: Postural tachycardia syndrome (POTS) is a disorder featured by orthostatic intolerance. The purpose of this study was to investigate the severity of quality of life issues in POTS patients. METHODS: Online surveys for health related quality of life, sleep quality, fatigue, pain, and suicidal ideation were completed by 624 POTS patients and 139 controls. RESULTS: People with POTS have significantly more days of poor physical health (p < 0...
April 2017: Clinical Autonomic Research: Official Journal of the Clinical Autonomic Research Society
https://www.readbyqxmd.com/read/28160388/cardiovascular-autonomic-dysfunction-in-ehlers-danlos-syndrome-hypermobile-type
#13
Alan Hakim, Chris O'Callaghan, Inge De Wandele, Lauren Stiles, Alan Pocinki, Peter Rowe
Autonomic dysfunction contributes to health-related impairment of quality of life in the hypermobile type of Ehlers-Danlos syndrome (hEDS). Typical signs and symptoms include tachycardia, hypotension, gastrointestinal dysmotility, and disturbed bladder function and sweating regulation. Cardiovascular autonomic dysfunction may present as Orthostatic Intolerance, Orthostatic Hypotension, Postural Orthostatic Tachycardia Syndrome, or Neurally Mediated Hypotension. The incidence, prevalence, and natural history of these conditions remain unquantified, but observations from specialist clinics suggest they are frequently seen in hEDS...
February 4, 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28149069/impact-of-yoga-in-a-case-of-vocal-cord-dysfunction-with-dysautonomia
#14
Rozina Wadhwania
A 23-year-old female with a past medical history of gastroesophageal reflux disease presented with shortness of breath induced by exercise and certain odors. She reported the symptoms of autonomic dysfunction including fatigue, chest pain, lightheadedness, headaches, numbness/tingling in the arms and legs, and exercise intolerance. Vital signs were significant for orthostatic intolerance. Volume flow loop in the pulmonary function tests showed a flattening of the inspiratory portion characteristic of vocal cord dysfunction...
January 2017: International Journal of Yoga
https://www.readbyqxmd.com/read/28112481/the-effects-of-body-weight-status-on-orthostatic-intolerance-and-predisposition-to-noncardiac-syncope
#15
REVIEW
G A Christou, D N Kiortsis
Orthostatic intolerance (OI) is frequently the mechanism underlying the occurrence of noncardiac syncope (NCS) and is associated with substantial risk for injury. Body weight status appears to be a modifier of orthostatic responses and possibly influences the propensity to NCS. The majority of cross-sectional studies have found that the lower the body mass index (BMI) the greater the predisposition to OI is, accompanied with both down-regulation of sympathetic nervous system activity and up-regulation of parasympathetic nervous system activity...
March 2017: Obesity Reviews: An Official Journal of the International Association for the Study of Obesity
https://www.readbyqxmd.com/read/28055999/-role-of-the-sympathetic-nervous-system-in-vasovagal-syncope-and-rationale-for-beta-blockers-and-norepinephrine-transporter-inhibitors
#16
Manlio F Márquez, Jorge Rafael Gómez-Flores, Jesús A González-Hermosillo, Teresita de Jesús Ruíz-Siller, Manuel Cárdenas
Vasovagal or neurocardiogenic syncope is a common clinical situation and, as with other entities associated with orthostatic intolerance, the underlying condition is a dysfunction of the autonomic nervous system. This article reviews various aspects of vasovagal syncope, including its relationship with orthostatic intolerance and the role of the autonomic nervous system in it. A brief history of the problem is given, as well as a description of how the names and associated concepts have evolved. The response of the sympathetic system to orthostatic stress, the physiology of the baroreflex system and the neurohumoral changes that occur with standing are analyzed...
December 29, 2016: Medwave
https://www.readbyqxmd.com/read/28013357/physical-activity-but-not-sedentary-activity-is-reduced-in-primary-sj%C3%A3-gren-s-syndrome
#17
Wan-Fai Ng, Ariana Miller, Simon J Bowman, Elizabeth J Price, George D Kitas, Colin Pease, Paul Emery, Peter Lanyon, John Hunter, Monica Gupta, Ian Giles, David Isenberg, John McLaren, Marian Regan, Annie Cooper, Steven A Young-Min, Neil McHugh, Saravanan Vadivelu, Robert J Moots, David Coady, Kirsten MacKay, Bhaskar Dasgupta, Nurhan Sutcliffe, Michele Bombardieri, Costantino Pitzalis, Bridget Griffiths, Sheryl Mitchell, Samira Tatiyama Miyamoto, Michael Trenell
The aim of the study was to evaluate the levels of physical activity in individuals with primary Sjögren's syndrome (PSS) and its relationship to the clinical features of PSS. To this cross-sectional study, self-reported levels of physical activity from 273 PSS patients were measured using the International Physical Activity Questionnaire-short form (IPAQ-SF) and were compared with healthy controls matched for age, sex and body mass index. Fatigue and other clinical aspects of PSS including disease status, dryness, daytime sleepiness, dysautonomia, anxiety and depression were assessed using validated tools...
April 2017: Rheumatology International
https://www.readbyqxmd.com/read/28000175/adaptation-to-microgravity-deconditioning-and-countermeasures
#18
REVIEW
Kunihiko Tanaka, Naoki Nishimura, Yasuaki Kawai
Humans are generally in standing or sitting positions on Earth during the day. The musculoskeletal system supports these positions and also allows motion. Gravity acting in the longitudinal direction of the body generates a hydrostatic pressure difference and induces footward fluid shift. The vestibular system senses the gravity of the body and reflexively controls the organs. During spaceflight or exposure to microgravity, the load on the musculoskeletal system and hydrostatic pressure difference is diminished...
March 2017: Journal of Physiological Sciences: JPS
https://www.readbyqxmd.com/read/27959743/autologous-adipose-stem-cell-therapy-for-autonomic-nervous-system-dysfunction-in-two-young-patients
#19
Mohammed T Numan, Ankur Kamdar, Jane Young, Ian J Butler
Postural orthostatic tachycardia syndrome and neurocardiogenic syncope are clinical manifestations of autonomic nervous system dysfunction (dysautonomia) that can lead to impaired daily functions. We report two young patients presenting with dysautonomia and autoimmune disease who both received autologous adipose stem cells (ASCs) infusions. This report is the first description of ASCs therapy for patients with combined dysautonomia and autoimmune disease. Case 1: A 21-year-old female presented at 12 years of age with escalating severe dysautonomia with weight loss and gastrointestinal symptoms...
March 15, 2017: Stem Cells and Development
https://www.readbyqxmd.com/read/27900370/a-patient-with-multisystem-dysfunction-carries-a-truncation-mutation-in-human-slc12a2-the-gene-encoding-the-na-k-2cl-cotransporter-nkcc1
#20
Eric Delpire, Lynne Wolfe, Bianca Flores, Rainelli Koumangoye, Cara C Schornak, Salma Omer, Barbara Pusey, Christopher Lau, Thomas Markello, David R Adams
This study describes a 13-yr-old girl with orthostatic intolerance, respiratory weakness, multiple endocrine abnormalities, pancreatic insufficiency, and multiorgan failure involving the gut and bladder. Exome sequencing revealed a de novo, loss-of-function allele in SLC12A2, the gene encoding the Na-K-2Cl cotransporter-1. The 11-bp deletion in exon 22 results in frameshift (p.Val1026Phefs*2) and truncation of the carboxy-terminal tail of the cotransporter. Preliminary studies in heterologous expression systems demonstrate that the mutation leads to a nonfunctional transporter, which is expressed and trafficked to the plasma membrane alongside wild-type NKCC1...
November 2016: Cold Spring Harbor Molecular Case Studies
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