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Autonomic dysfunction

Christoph Niemietz, Christoph Röcken, Matthias Schilling, Jörg Stypman, Constantin E Uhlig, Hartmut H-J Schmidt
Transthyretin-related Familial Amyloid Polyneuropathy (ATTR Amyloidosis, former FAP, here called TTR-FAP) is a rare, progressive autosomal dominant inherited amyloid disease ending fatal within 5 - 15 years after final diagnosis. TTR-FAP is caused by mutations of transthyretin (TTR), which forms amyloid fibrils affecting peripheral and autonomic nerves, the heart and other organs. Due to the phenotypic heterogeneity and partly not specific enough clinical symptoms, diagnosis of TTR-FAP can be complicated...
March 2018: Deutsche Medizinische Wochenschrift
Elie Fiogbé, Rafaela Ferreira, Márcio Antônio Gonçalves Sindorf, Silvia Aparecida Tavares, Keiti Passoni de Souza, Marcelo de Castro Cesar, Charles Ricardo Lopes, Marlene Aparecida Moreno
BACKGROUND AND PURPOSE: It is important to assess the effectiveness and efficiency of water-based training programs in order to prescribe it as an alternative in cardiac rehabilitation for patients who have coronary artery disease (CAD). In these patients, autonomic dysfunction is an important physiological change strongly associated with adverse outcomes, morbidity, and mortality. Given that the beneficial effects of physical training in CAD patients have been traditionally evidenced with programs involving land-based aerobic exercises, this study aims to evaluate the effects of water aerobic exercise training (WAET) on the autonomic modulation of heart rate (HR) and body composition, in the rehabilitation of CAD patients...
March 14, 2018: Physiotherapy Research International: the Journal for Researchers and Clinicians in Physical Therapy
Syed Rizwan A Bokhari, Faisal Akhtar, Qurrat-Ul-Ain Abid, Uzma Jahanzaib, Maria R Bokhari, Sana Hasan, Khurshid Khan
Postural hypotension, as a manifestation of autonomic neuropathy is a very sinister long-term debilitating complication of diabetes, is usually irreversible and tough to manage with medications. The treatment of this condition following the standard treatment protocols can be contraindicated in the patients with underlying heart conditions. We report the case of a patient at our hospital who presented with full-blown symptomatic dysautonomia secondary to long-standing diabetes, with bedside testing positive for autonomic dysfunction...
January 8, 2018: Curēus
Maria Luíza de Medeiros Rêgo, Daniel Aranha Rego Cabral, Eduardo Bodnariuc Fontes
Heart Failure is a clinical syndrome prevalent throughout the world and a major contribution to mortality of cardiac patients in Brazil. In addition, this pathology is strongly related to cerebral dysfunction, with a high prevalence of cognitive impairment. Many mechanisms may be related to cognitive loss, such as cerebral hypoperfusion, atrophy and loss of gray matter of the brain, and dysfunction of the autonomic nervous system. The literature is clear regarding the benefits of aerobic physical activity in healthy populations in the modulation of the autonomic nervous system and in brain functions...
January 2018: Arquivos Brasileiros de Cardiologia
Saki Hirofuji, Yuta Hirofuji, Hiroki Kato, Keiji Masuda, Haruyoshi Yamaza, Hiroshi Sato, Fumiko Takayama, Michiko Torio, Yasunari Sakai, Shouichi Ohga, Tomoaki Taguchi, Kazuaki Nonaka
Rett syndrome is an X-linked neurodevelopmental disorder associated with psychomotor impairments, autonomic dysfunctions and autism. Patients with Rett syndrome have loss-of-function mutations in MECP2, the gene encoding methyl-CpG-binding protein 2 (MeCP2). Abnormal biogenic amine signaling and mitochondrial function have been found in patients with Rett syndrome; however, few studies have analyzed the association between these factors. This study investigated the functional relationships between mitochondria and the neuronal differentiation of the MeCP2-deficient stem cells from the exfoliated deciduous teeth of a child with Rett syndrome...
March 10, 2018: Biochemical and Biophysical Research Communications
Chandrakanth Reddy Edamakanti, Jeehaeh Do, Alessandro Didonna, Marco Martina, Puneet Opal
Spinocerebellar ataxia type 1 (SCA1) is an adult-onset neurodegenerative disease caused by a polyglutamine expansion in the protein ATXN1, which is involved in transcriptional regulation. Although symptoms appear relatively late in life, primarily from cerebellar dysfunction, pathogenesis begins early, with brain-wide transcriptional changes detectable as early as a week after birth in SCA1 knock-in mice. Given the importance of this postnatal period for cerebellar development, we asked whether this region might be developmentally altered by mutant ATXN1...
March 13, 2018: Journal of Clinical Investigation
Gilad Sorek, Sharon Shaklai, Shirley Meyer, Michal Katz-Leurer
INTRODUCTION: Adolescents with acquired brain injury (ABI) present a range of physical and cognitive as well as cardiac autonomic control system (CACS) dysfunctions. AIM: To examine the CACS response to an executive task, a physical task and a combined physical and executive task, in adolescents with ABI and typically developed (TD) controls. METHODS: Included were two groups: The first group consisted of 17 adolescents (11-18 years) with ABI, during the in-patient or out-patient rehabilitation period...
March 13, 2018: Brain Injury: [BI]
João Cavaleiro Rufo, Inês Paciência, Diana Silva, Carla Martins, Joana Madureira, Eduardo de Oliveira Fernandes, Patrícia Padrão, Pedro Moreira, Luís Delgado, André Moreira
BACKGROUND: Endurance swimming exercises coupled to disinfection by-products exposure has been associated with increased airways dysfunction and neurogenic inflammation in elite swimmers. However, the impact of swimming pool exposure at a recreational level on autonomic activity has never been explored. Therefore, this study aimed to investigate how swimming pool attendance is influencing lung and autonomic function in school-aged children. METHODS: A total of 858 children enrolled a cross sectional survey...
2018: PloS One
Marco Herbsleb, Andy Schumann, Berend Malchow, Christian Puta, P Christian Schulze, Holger W Gabriel, Karl-Jürgen Bär
The elevated cardiovascular risk of patients with schizophrenia contributes to a reduced life expectancy of 15-20years. This study investigated whether cardiac autonomic dysfunction (CADF) in schizophrenia is related to chronotropic incompetence, an established cardiovascular risk marker. We investigated thirty-two patients suffering from paranoid schizophrenia and thirty-two control subjects matched for age, sex, body mass index and fat free mass. A cardiopulmonary exercise test (CPET) was performed to study heart rate responses to exercise as well as submaximal (ventilatory threshold 1, VT1 ) and maximal endurance capacities (peak oxygen consumption, VO2peak ; peak power output, Ppeak )...
March 8, 2018: Schizophrenia Research
Amy C Arnold, Jessica Ng, Satish R Raj
Postural tachycardia syndrome (POTS) is a heterogeneous clinical syndrome that has gained increasing interest over the past few decades due to its increasing prevalence and clinical impact on health-related quality of life. POTS is clinically characterized by sustained excessive tachycardia upon standing that occurs in the absence of significant orthostatic hypotension and other medical conditions and or medications, and with chronic symptoms of orthostatic intolerance. POTS represents one of the most common presentations of syncope and presyncope secondary to autonomic dysfunction in emergency rooms and in cardiology, neurology, and primary care clinics...
February 28, 2018: Autonomic Neuroscience: Basic & Clinical
Maria Roma, Colleen L Marden, Inge De Wandele, Clair A Francomano, Peter C Rowe
OBJECTIVE: To review the association between orthostatic intolerance syndromes and both joint hypermobility and Ehlers-Danlos syndrome, and to propose reasons for identifying hereditary connective tissue disorders in those with orthostatic intolerance in the context of both clinical care and research. METHODS: We searched the published peer-reviewed medical literature for papers reporting an association between joint hypermobility or Ehlers-Danlos syndrome and orthostatic intolerance...
March 5, 2018: Autonomic Neuroscience: Basic & Clinical
Heather Campbell, Rathinaswamy B Govindan, Srinivas Kota, Tareq Al-Shargabi, Marina Metzler, Nickie Andescavage, Taeun Chang, Gilbert Vezina, Adre du Plessis, An N Massaro
OBJECTIVE: To evaluate whether infants with hypoxic-ischemic encephalopathy and evidence of autonomic dysfunction have aberrant physiological responses to care events that could contribute to evolving brain injury. STUDY DESIGN: Continuous tracings of heart rate (HR), blood pressure (BP), cerebral near infrared spectroscopy, and video electroencephalogram data were recorded from newborn infants with hypoxic-ischemic encephalopathy who were treated with hypothermia...
March 6, 2018: Journal of Pediatrics
Natalia Ivanovna Kurysheva, Tamara Yakovlevna Ryabova, Vitaliy Nikiforovich Shlapak
Relevance: Vascular factors may be involved in the development of both high tension glaucoma (HTG) and normal tension (NTG) glaucoma; however, they may be not exactly the same. Autonomic dysfunction characterized by heart rate variability (HRV) is one of the possible reasons of decrease in mean ocular perfusion pressure (MOPP). Purpose: To compare the shift of the HRV parameters in NTG and HTG patients after a cold provocation test (CPT). Methods: MOPP, 24-hour blood pressure and HRV were studied in 30 NTG, 30 HTG patients, and 28 healthy subjects...
March 2018: EPMA Journal
Sheng-Wen Niu, Jiun-Chi Huang, Szu-Chia Chen, Hugo Y-H Lin, I-Ching Kuo, Pei-Yu Wu, Yi-Wen Chiu, Jer-Ming Chang
Background: Heart rate variability (HRV) represents changes in the time between successive heart beats, and it has been used to assess the autonomic nervous system. Previous studies have reported autonomic dysfunction in diabetic patients undergoing hemodialysis (HD), however, no studies have evaluated the effects of age on changes in HRV in these patients. The aim of this study was to examine the effects of age on changes in HRV in diabetic HD patients. Methods: We enrolled 84 diabetic patients receiving maintenance HD...
2018: Frontiers in Aging Neuroscience
Apollonia Fox, Drew Helmer, Chin-Lin Tseng, Lydia Patrick-DeLuca, Omowunmi Osinubi
Introduction: Previous studies suggest that autonomic dysfunction may be an underlying factor in Gulf War Illness. This study examined self-reported symptoms of autonomic dysfunction and their relationship with physical functioning among veterans with Gulf War Illness. Materials and Methods: We abstracted medical records of Gulf War Veterans clinically evaluated at the New Jersey War Related Illness and Injury Study Center between 2010 and 2016. The outcome measure was the Veteran version of the Short Form Health Survey (VR-36) physical functioning scale...
March 1, 2018: Military Medicine
Morgayn I Read, Rebecca N Millen, Dominic M McCann, Joanne C Harrison, Douglas S Kerr, Ivan A Sammut
OBJECTIVE: Altered autonomic activity has been implicated in the development of cardiac dysfunction during seizures. This study investigates whether intervening in seizure progression with diazepam will reduce seizure-induced cardiomyopathy. Second, this study examines the hypothesis that combining atenolol with diazepam, as an intervention after seizure onset, will combat cardiac injury during status epilepticus. METHODS: Male Sprague-Dawley rats were implanted with electroencephalographic/electrocardiographic electrodes to allow simultaneous recordings during seizures induced by intrahippocampal (2 nmol, 1 μL) kainic acid (KA)...
March 7, 2018: Epilepsia
Alejandra Gonzalez-Duarte
PURPOSE: Hereditary transthyretin amyloidosis (hATTR amyloidosis) is a progressive disease primarily characterized by adult-onset sensory, motor, and autonomic neuropathy. In this article, we discuss the pathophysiology and principal findings of autonomic neuropathy in hATTR amyloidosis, the most common methods of assessment and progression, and its relation as a predictive risk factor or a measure of progression in the natural history of the disease. METHODS: A literature search was performed using the terms "autonomic neuropathy," "dysautonomia," and "autonomic symptoms" in patients with hereditary transthyretin amyloidosis and familial amyloid polyneuropathy...
March 6, 2018: Clinical Autonomic Research: Official Journal of the Clinical Autonomic Research Society
Emilia Sbardella, Marianna Minnetti, Denise D'Aluisio, Laura Rizza, Maria Rosaria Di Giorgio, Fabio Vinci, Riccardo Pofi, Elisa Giannetta, Mary Anna Venneri, Annarita Vestri, Sergio Morelli, Andrea Lenzi, Andrea M Isidori
BACKGROUND: Low-grade incomplete post-dexamethasone cortisol suppression in patients with adrenal incidentalomas -recently defined as possible autonomous cortisol secretion (pACS)- has been associated with increased cardiovascular events and mortality. However, prospective studies documenting cardiac abnormalities in these patients are lacking. SUBJECTS AND METHODS: Between July 2016 and September 2017, 71 consecutive patients with adrenal lesions were prospectively screened for hypercortisolism by dexamethasone suppression test (NCT02611258)...
March 6, 2018: European Journal of Endocrinology
Viorica Chelban, Ekawat Vichayanrat, Lucia Schottlaende, Valeria Iodice, Henry Houlden
The discovery of genetic links between alpha-synuclein and PD has opened unprecedented opportunities for research into a new group of diseases, now collectively known as synucleinopathies. Autonomic dysfunction, including cardiac sympathetic denervation, has been reported in familial forms of synucleinopathies that have Lewy bodies at the core of their pathogenesis. SNCA mutations and multiplications, LRRK2 disease with Lewy bodies as well as other common, sporadic forms of idiopathic PD, MSA, pure autonomic failure, and dementia with Lewy bodies have all been associated with dysautonomia...
March 2018: Movement Disorders: Official Journal of the Movement Disorder Society
Jose-Alberto Palma, Horacio Kaufmann
Dysfunction of the autonomic nervous system afflicts most patients with Parkinson disease and other synucleinopathies such as dementia with Lewy bodies, multiple system atrophy, and pure autonomic failure, reducing quality of life and increasing mortality. For example, gastrointestinal dysfunction can lead to impaired drug pharmacodynamics causing a worsening in motor symptoms, and neurogenic orthostatic hypotension can cause syncope, falls, and fractures. When recognized, autonomic problems can be treated, sometimes successfully...
March 2018: Movement Disorders: Official Journal of the Movement Disorder Society
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