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Orthostatic intolerance

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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
#1
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
https://www.readbyqxmd.com/read/27849259/reduced-systolic-volume-main-pathophysiological-mechanism-in-patients-with-orthostatic-intolerance
#2
Maria Zildany P Távora-Mehta, Niraj Mehta, Adriano Magajevski, Larissa de Oliveira, Débora Lee Smith Maluf, Letícia Concato, Eduardo Doubrawa, Márcio Rogério Ortiz, Cláudio L Pereira da Cunha
BACKGROUND: Orthostatic intolerance patients' pathophysiological mechanism is still obscure, contributing to the difficulty in their clinical management. OBJECTIVE: To investigate hemodynamic changes during tilt test in individuals with orthostatic intolerance symptoms, including syncope or near syncope. METHODS: Sixty-one patients who underwent tilt test at - 70° in the phase without vasodilators were divided into two groups. For data analysis, only the first 20 minutes of tilting were considered...
October 2016: Arquivos Brasileiros de Cardiologia
https://www.readbyqxmd.com/read/27773421/dominant-transmission-observed-in-adolescents-and-families-with-orthostatic-intolerance
#3
Jennifer E Posey, Rebecca Martinez, Jeremy E Lankford, James R Lupski, Mohammed T Numan, Ian J Butler
BACKGROUND: Orthostatic intolerance is typically thought to be sporadic and attributed to cerebral autonomic dysfunction. We sought to identify families with inherited autonomic dysfunction manifest as symptomatic orthostatic intolerance to characterize mode of inheritance and clinical features. METHODS: Sixteen families with two or more first- or second-degree relatives with autonomic dysfunction and orthostatic intolerance were enrolled. A clinical diagnosis of autonomic dysfunction defined by symptomatic orthostatic intolerance diagnosed by head-up tilt table testing was confirmed for each proband...
September 24, 2016: Pediatric Neurology
https://www.readbyqxmd.com/read/27734621/clinical-approach-to-autonomic-dysfunction
#4
R Wells, A Tonkin
Patients with autonomic dysfunction may present with a variety of seemingly unrelated symptoms, both generalised and involving specific systems, including fatigue, difficulty concentrating, orthostatic intolerance, palpitations, constipation or diarrhoea, early satiety, urinary retention or incontinence and erectile dysfunction. Failure to connect the diverse symptoms with a single underlying mechanism may lead to incorrect diagnoses, inappropriate interventions and frustration on the part of both doctors and patients...
October 2016: Internal Medicine Journal
https://www.readbyqxmd.com/read/27729043/orthostatic-intolerance-symptoms-are-associated-with-depression-and-diminished-quality-of-life-in-patients-with-postural-tachycardia-syndrome
#5
Jangsup Moon, Do-Yong Kim, Jung-Ick Byun, Jun-Sang Sunwoo, Jung-Ah Lim, Tae-Joon Kim, Jung-Won Shin, Woo-Jin Lee, Han Sang Lee, Jin-Sun Jun, Kyung-Il Park, Keun-Hwa Jung, Soon-Tae Lee, Ki-Young Jung, Kon Chu, Sang Kun Lee
BACKGROUND: Patients with postural tachycardia syndrome often appear depressive and report diminished quality of life (QOL). In the current study, we first evaluated if the maximal heart rate (HR) increment after standing is associated with the clinical symptoms in patients with excessive orthostatic tachycardia (OT). Next, we investigated the correlations among the symptoms of orthostatic intolerance (OI), depression, and health-related QOL in these patients. Finally we assessed if patients with minimal OI symptoms suffer from depression or diminished QOL...
October 12, 2016: Health and Quality of Life Outcomes
https://www.readbyqxmd.com/read/27721367/a-pair-of-identical-twins-discordant-for-myalgic-encephalomyelitis-chronic-fatigue-syndrome-differ-in-physiological-parameters-and-gut-microbiome-composition
#6
Ludovic Giloteaux, Maureen R Hanson, Betsy A Keller
BACKGROUND Patients with myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) present with profound fatigue, flu-like symptoms, pain, cognitive impairment, orthostatic intolerance, and post-exertional malaise (PEM), and exacerbation of some or all of the baseline symptoms. CASE REPORT We report on a pair of 34-year-old monozygotic twins discordant for ME/CFS, with WELL, the non-affected twin, and ILL, the affected twin. Both twins performed a two-day cardiopulmonary exercise test (CPET), pre- and post-exercise blood samples were drawn, and both provided stool samples for biochemical and molecular analysis...
October 10, 2016: American Journal of Case Reports
https://www.readbyqxmd.com/read/27696568/postural-orthostatic-tachycardia-is-not-a-useful-diagnostic-marker-for-chronic-fatigue-syndrome
#7
M E Roerink, J W M Lenders, I C Schmits, A M A Pistorius, J W Smit, H Knoop, J W M van der Meer
BACKGROUND: Postural orthostatic tachycardia syndrome (POTS) is considered a diagnostic marker for chronic fatigue syndrome (CFS). OBJECTIVES: The aims of this study were to (i) compare POTS prevalence in a CFS cohort with fatigued patients not meeting CFS criteria, and (ii) assess activity, impairment and response to cognitive behavioural therapy (CBT) in CFS patients with POTS (POTS-CFS) and without POTS (non-POTS-CFS). METHODS: Prospective cohort study at the Radboud University Medical Centre in the Netherlands...
October 2, 2016: Journal of Internal Medicine
https://www.readbyqxmd.com/read/27638295/postoperative-orthostatic-intolerance-a-common-perioperative-problem-with-few-available-solutions
#8
Øivind Jans, Henrik Kehlet
No abstract text is available yet for this article.
September 14, 2016: Canadian Journal of Anaesthesia, Journal Canadien D'anesthésie
https://www.readbyqxmd.com/read/27634181/long-term-exposure-to-microgravity-impairs-vestibulo-cardiovascular-reflex
#9
Hironobu Morita, Chikara Abe, Kunihiko Tanaka
The vestibular system is known to have an important role in controlling blood pressure upon posture transition (vestibulo-cardiovascular reflex, VCR). However, under a different gravitational environment, the sensitivity of the vestibular system may be altered. Thus, the VCR may become less sensitive after spaceflight because of orthostatic intolerance potentially induced by long-term exposure to microgravity. To test this hypothesis in humans, we investigated the ability of the VCR to maintain blood pressure upon head-up tilt before and after a 4-6 months stay on the International Space Station...
2016: Scientific Reports
https://www.readbyqxmd.com/read/27625098/pathogenesis-and-individualized-treatment-for-postural-tachycardia-syndrome-in-children
#10
REVIEW
Wen-Rui Xu, Hong-Fang Jin, Jun-Bao Du
OBJECTIVE: Postural tachycardia syndrome (POTS) is one of the major causes of orthostatic intolerance in children. We systematically reviewed the pathogenesis and the progress of individualized treatment for POTS in children. DATA SOURCES: The data analyzed in this review are mainly from articles included in PubMed and EMBASE. STUDY SELECTION: The original articles and critical reviews about POTS were selected for this review. RESULTS: Studies have shown that POTS might be related to several factors including hypovolemia, high catecholamine status, abnormal local vascular tension, and decreased skeletal muscle pump activity...
2016: Chinese Medical Journal
https://www.readbyqxmd.com/read/27563801/droxidopa-in-the-treatment-of-postural-orthostatic-tachycardia-syndrome
#11
Mohammed Ruzieh, Osama Dasa, Ann Pacenta, Beverly Karabin, Blair Grubb
BACKGROUND: Postural orthostatic tachycardia syndrome (POTS) is a constellation of signs and symptoms that occur when a patient is upright and relieved by recumbence. Currently, no drugs are labeled for the treatment for POTS. Droxidopa is an orally administered amino acid that is converted to norepinephrine and thought to improve both blood pressure and symptoms in patients with orthostatic intolerance. STUDY QUESTION: To appraise the effect of Droxidopa in a clinical setting in patients with POTS refractory to other forms of treatment...
August 25, 2016: American Journal of Therapeutics
https://www.readbyqxmd.com/read/27558116/resolution-of-postural-orthostatic-tachycardia-syndrome-after-ct-guided-percutaneous-t2-ethanol-ablation-for-hyperhidrosis
#12
Malcolm Brock, Tae Hwan Chung, Sathvika Reddy Gaddam, Anjaneya Singh Kathait, Cecily Ober, Christos Georgiades
Postural orthostatic tachycardia syndrome is characterized by orthostatic intolerance. Orthostasis (or other mild physical stress) triggers a cascade of inappropriate tachycardia, lightheadedness, palpitations, and often fainting. The underlying defect is sympathetic dysregulation of the heart, which receives its sympathetic tone from the cervical and upper thoracic sympathetic ganglia. Primary hyperhidrosis is also thought to be the result of sympathetic dysregulation. We present the case of a patient treated with CT-guided, percutaneous T2 EtOH sympatholysis for craniofacial hyperhidrosis...
August 24, 2016: Cardiovascular and Interventional Radiology
https://www.readbyqxmd.com/read/27544842/cardiovascular-autonomic-neuropathy-in-patients-with-diabetes-mellitus
#13
T Lozano, J Ena
Cardiovascular autonomic neuropathy associated with diabetes mellitus is caused by an impairment of the autonomic system. The prevalence of this condition ranges from 20% to 65%, depending on the duration of the diabetes mellitus. Clinically, the autonomic function disorder is associated with resting tachycardia, exercise intolerance, orthostatic hypotension, intraoperative cardiovascular instability, silent myocardial ischemia and increased mortality. For the diagnosis, the integrity of the parasympathetic and sympathetic nervous system is assessed...
August 17, 2016: Revista Clínica Española
https://www.readbyqxmd.com/read/27525257/cerebral-blood-flow-heart-rate-and-blood-pressure-patterns-during-the-tilt-test-in-common-orthostatic-syndromes
#14
Peter Novak
Objective. The head-up tilt test is widely used for evaluation of orthostatic intolerance. Although orthostatic symptoms usually reflect cerebral hypoperfusion, the cerebral blood flow velocity (CBFv) profile in orthostatic syndromes is not well described. This study evaluated CBFv and cardiovascular patterns associated with the tilt test in common orthostatic syndromes. Methods. This retrospective study analyzed the tilt test of patients with history of orthostatic intolerance. The following signals were recorded: ECG, blood pressure, CBFv using transcranial Doppler, respiratory signals, and end tidal CO2...
2016: Neuroscience Journal
https://www.readbyqxmd.com/read/27496265/benign-joint-hypermobility-minimally-impacts-autonomic-abnormalities-in-pediatric-subjects-with-chronic-functional-pain-disorders
#15
Gisela Chelimsky, Katja Kovacic, Pippa Simpson, Melodee Nugent, Donald Basel, Julie Banda, Thomas Chelimsky
OBJECTIVE: To determine if children with benign joint hypermobility (BJH) syndrome and chronic functional pain disorders have more autonomic dysfunction. STUDY DESIGN: Retrospective chart review study of pediatric patients seen in the pediatric neurogastroenterology and autonomic clinic who underwent autonomic testing and had either a Beighton score of ≥6 and met Brighton criteria for BJH (with BJH) or a score of ≤2 (no BJH). RESULTS: Twenty-one female subjects (10 without BJH) met inclusion criteria; 64% of BJH had diagnosis confirmed by genetics consultation...
October 2016: Journal of Pediatrics
https://www.readbyqxmd.com/read/27436539/the-clinical-and-electroencephalographic-spectrum-of-tilt-induced-syncope-and-near-syncope-in-youth
#16
Geoffrey L Heyer, Caitlin Schmittauer, Monica P Islam
BACKGROUND: The aim of the study was to characterize the clinical and electroencephalographic (EEG) patterns associated with tilt-induced reflex syncope and delayed orthostatic hypotension without syncope in youth. METHODS: We conducted a prospective observational study of 95 patients referred to a pediatric neurology clinic for head-upright tilt testing. Clinical signs, symptoms, video EEG, and continuous blood pressure and heart rate were monitored. RESULTS: Eighty patients had reflex syncope, and 15 had delayed-onset hypotension without syncope...
September 2016: Pediatric Neurology
https://www.readbyqxmd.com/read/27422051/transthyretin-amyloid-neuropathy-has-earlier-neural-involvement-but-better-prognosis-than-primary-amyloid-counterpart-an-answer-to-the-paradox
#17
Adam J Loavenbruck, Wolfgang Singer, Michelle L Mauermann, Paola Sandroni, P James B Dyck, Morie Gertz, Christopher J Klein, Phillip A Low
OBJECTIVE: To systematically compare transthyretin with primary amyloid neuropathy to define their natural history and the underlying mechanisms for differences in phenotype and natural history. METHODS: All patients with defined amyloid subtype and peripheral neuropathy who completed autonomic testing and electromyography at Mayo Clinic Rochester between 1993 and 2013 were included. Medical records were reviewed for time of onset of defined clinical features. The degree of autonomic impairment was quantified using the composite autonomic severity scale...
September 2016: Annals of Neurology
https://www.readbyqxmd.com/read/27421749/adolescent-chronic-fatigue-and-orthostatic-intolerance-relationships-between-parental-attributes-and-child-functioning
#18
Breann N Kluck, Ashley N Junghans-Rutelonis, Amie E Jones, Philip R Fischer, Karen E Weiss
No abstract text is available yet for this article.
July 15, 2016: Clinical Pediatrics
https://www.readbyqxmd.com/read/27412743/-predictive-value-of-upright-blood-pressure-change-for-long-term-prognosis-of-children-with-postural-tachycardia-syndrome-treated-with-midodrine-hydrochloride
#19
H X Li, W J Deng, C Y Zhang, H F Jin, J B Du
OBJECTIVE: To explore the predictive value of upright blood pressure change for long-term prognosis of children with postural tachycardia syndrome (POTS) treated with midodrine hydrochloride. METHOD: A total of 90 children (male 41, female 49) were enrolled in this study. Their mean age was (11.8±2.7) years. They were diagnosed as POTS in Peking University First Hospital from 2005 to 2011. According to the upright change of blood pressure at the first visit, they were divided into two groups, effective group (n=55) and ineffective group(n=35)...
July 2016: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/27401397/down-regulation-of-renin-aldosterone-and-antidiuretic-hormone-systems-in-patients-with-myalgic-encephalomyelitis-chronic-fatigue-syndrome
#20
Kunihisa Miwa
BACKGROUND: Central nervous system dysfunction associated with myalgic encephalomyelitis (ME) has been postulated as the cause of chronic fatigue syndrome (CFS). A small heart or reduced left ventricular volume with reduced cardiac output has been reported to be common in patients with ME. The main circulatory blood volume regulators may be down-regulated. METHODS: Plasma levels of the neurohumoral factors that regulate circulatory blood volume were determined in 18 patients with ME and 15 healthy subjects (Controls)...
July 8, 2016: Journal of Cardiology
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