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Autonomic dysfunction

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https://www.readbyqxmd.com/read/28424575/contribution-of-autonomic-reflexes-to-the-hyperadrenergic-state-in-heart-failure
#1
REVIEW
Edgar Toschi-Dias, Maria Urbana P B Rondon, Chiara Cogliati, Nazareno Paolocci, Eleonora Tobaldini, Nicola Montano
Heart failure (HF) is a complex syndrome representing the clinical endpoint of many cardiovascular diseases of different etiology. Given its prevalence, incidence and social impact, a better understanding of HF pathophysiology is paramount to implement more effective anti-HF therapies. Based on left ventricle (LV) performance, HF is currently classified as follows: (1) with reduced ejection fraction (HFrEF); (2) with mid-range EF (HFmrEF); and (3) with preserved EF (HFpEF). A central tenet of HFrEF pathophysiology is adrenergic hyperactivity, featuring increased sympathetic nerve discharge and a progressive loss of rhythmical sympathetic oscillations...
2017: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/28422456/variable-phenotype-in-a-novel-mutation-in-phox2b
#2
Rachel C Lombardo, Elizabeth Kramer, James F Cnota, Hemant Sawnani, Robert J Hopkin
We evaluated a family with three siblings, two of whom ages 2 years and 19 months, had long segment colonic agangliosis and anisocoria. The mother also had anisocoria. All three affected family members were mildly dysmorphic with a flat facial profile, square appearance to the face, depressed nasal bridge, and anteverted nares. Genetic testing identified a novel heterozygous mutation, c.234C>G, resulting in a premature stop codon in exon 1 of the PHOX2B gene. Screening for neural crest tumors was performed in the siblings and to date has been negative...
April 19, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28422282/analysis-of-circulating-mir-1-mir-23a-and-mir-26a-in-atrial-fibrillation-patients-undergoing-coronary-bypass-artery-grafting-surgery
#3
Andre Feldman, Dalmo Antonio Ribeiro Moreira, Carlos Gun, Hui-Tzu Lin Wang, Mario Hiroyuki Hirata, Juliana de Freitas Germano, Gabriela Guimarães Sousa Leite, Pedro Farsky
Atrial fibrillation (AF) is the most common arrhythmia after cardiac surgery. From a pathophysiological point of view, a myriad of factors such as trauma, atrial dilation, ischemia, mechanical myopericarditis, autonomic imbalance, loss of connexins, AF nest remodeling, inflammation, sutures, and dysfunction caused by postextracorporeal circulation can contribute to postoperative atrial fibrillation (POAF) resulting in a longer hospital stay and consequently higher cost. Recent studies showed that short fragments of RNA, called microRNA (miRNA), can contribute to the development of several cardiovascular diseases, including AF...
May 2017: Annals of Human Genetics
https://www.readbyqxmd.com/read/28422281/wnk1-hsn2-founder-mutation-in-patients-with-hereditary-sensory-and-autonomic-neuropathy-a-japanese-cohort-study
#4
Jun-Hui Yuan, Akihiro Hashiguchi, Akiko Yoshimura, Norio Sakai, Masanori P Takahashi, Takehiro Ueda, Akira Taniguchi, Sayaka Okamoto, Nobuo Kanazawa, Yuki Yamamoto, Kazumasa Saigoh, Susumu Kusunoki, Masahiro Ando, Yu Hiramatsu, Yuji Okamoto, Hiroshi Takashima
The clinical and genetic spectrum of hereditary sensory and autonomic neuropathy (HSAN) is still unknown in Japan. We collected a broad cohort of 33 unrelated patients with predominant sensory and/or autonomic dysfunctions, who were referred to our genetic laboratory. A gene panel sequencing targeting 18 HSAN-related genes was performed using a next-generation sequencing system. A recurrent frame shift mutation in the WNK1/HSN2 gene, c.3237_3238insT (p.Asp1080*), was detected in five patients. This mutation was homozygous in four cases and of a compound heterozygous genotype in one case...
April 19, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28420762/resting-heart-rate-variability-and-exercise-capacity-in-type-1-diabetes
#5
Luke C Wilson, Karen C Peebles, Neil A Hoye, Patrick Manning, Catherine Sheat, Michael J A Williams, Gerard T Wilkins, Genevieve A Wilson, James C Baldi
People with type 1 diabetes (T1D) have lower exercise capacity (V̇O2max) than their age-matched nondiabetic counterparts (CON), which might be related to cardiac autonomic dysfunction. We examined whether Heart Rate Variability (HRV; indicator of cardiac autonomic modulation) was associated with exercise capacity in those with and without T1D. Twenty-three participants with uncomplicated T1D and 17 matched CON were recruited. Heart rate (HR; ECG), blood pressure (BP; finger photo-plethysmography), and respiratory rate (respiratory belt) were measured during baseline, paced-breathing and clinical autonomic reflex tests (CARTs); deep breathing, lying-to-stand, and Valsalva maneuver...
April 2017: Physiological Reports
https://www.readbyqxmd.com/read/28416983/local-conduction-during-acute-myocardial-infarction-in-rats-interplay-between-central-sympathetic-activation-and-endothelin
#6
Theofilos M Kolettis, Marianthi Kontonika, Vassilios La Rocca, Antonios P Vlahos, Giannis G Baltogiannis, Zenon S Kyriakides
We investigated the effects of autonomic dysfunction and endothelin on local conduction and arrhythmogenesis during myocardial infarction. We recorded ventricular tachyarrhythmias, monophasic action potentials, and activation sequences in wild-type and ETB-deficient rats displaying high endothelin levels. Central sympathetic inputs were examined after clonidine administration. Clonidine mitigated early and delayed arrhythmogenesis in ETB-deficient and wild-type rats, respectively. The right ventricular activation delay increased in clonidine-treated ETB-deficient rats and slightly decreased in wild-type rats...
April 2017: Journal of Arrhythmia
https://www.readbyqxmd.com/read/28416148/alterations-in-autonomic-cerebrovascular-control-after-spinal-cord-injury
#7
Dong-Il Kim, Can Ozan Tan
Among chronic cardiovascular and metabolic sequelae of spinal cord injury (SCI) is an up-to four-fold increase in the risk of ischemic and hemorrhagic stroke, suggesting that individuals with SCI cannot maintain stable cerebral perfusion. In able-bodied individuals, the cerebral vasculature is able to regulate cerebral perfusion in response to swings in arterial pressure (cerebral autoregulation), blood gases (cerebral vasoreactivity), and neural metabolic demand (neurovascular coupling). This ability depends, at least partly, on intact autonomic function, but high thoracic and cervical spinal cord injuries result in disruption of sympathetic and parasympathetic cerebrovascular control...
April 4, 2017: Autonomic Neuroscience: Basic & Clinical
https://www.readbyqxmd.com/read/28415836/diabetic-cardiomyopathy-where-we-are-and-where-we-are-going
#8
Wang-Soo Lee, Jaetaek Kim
The global burden of diabetes mellitus and its related complications are currently increasing. Diabetes mellitus affects the heart through various mechanisms including microvascular impairment, metabolic disturbance, subcellular component abnormalities, cardiac autonomic dysfunction, and a maladaptive immune response. Eventually, diabetes mellitus can cause functional and structural changes in the myocardium without coronary artery disease, a disorder known as diabetic cardiomyopathy (DCM). There are many diagnostic tools and management options for DCM, although it is difficult to detect its development and effectively prevent its progression...
April 18, 2017: Korean Journal of Internal Medicine
https://www.readbyqxmd.com/read/28414314/cell-competition-with-normal-epithelial-cells-promotes-apical-extrusion-of-transformed-cells-through-metabolic%C3%A2-changes
#9
Shunsuke Kon, Kojiro Ishibashi, Hiroto Katoh, Sho Kitamoto, Takanobu Shirai, Shinya Tanaka, Mihoko Kajita, Susumu Ishikawa, Hajime Yamauchi, Yuta Yako, Tomoko Kamasaki, Tomohiro Matsumoto, Hirotaka Watanabe, Riku Egami, Ayana Sasaki, Atsuko Nishikawa, Ikumi Kameda, Takeshi Maruyama, Rika Narumi, Tomoko Morita, Yoshiteru Sasaki, Ryosuke Enoki, Sato Honma, Hiromi Imamura, Masanobu Oshima, Tomoyoshi Soga, Jun-Ichi Miyazaki, Michael R Duchen, Jin-Min Nam, Yasuhito Onodera, Shingo Yoshioka, Junichi Kikuta, Masaru Ishii, Masamichi Imajo, Eisuke Nishida, Yoichiro Fujioka, Yusuke Ohba, Toshiro Sato, Yasuyuki Fujita
Recent studies have revealed that newly emerging transformed cells are often apically extruded from epithelial tissues. During this process, normal epithelial cells can recognize and actively eliminate transformed cells, a process called epithelial defence against cancer (EDAC). Here, we show that mitochondrial membrane potential is diminished in RasV12-transformed cells when they are surrounded by normal cells. In addition, glucose uptake is elevated, leading to higher lactate production. The mitochondrial dysfunction is driven by upregulation of pyruvate dehydrogenase kinase 4 (PDK4), which positively regulates elimination of RasV12-transformed cells...
April 17, 2017: Nature Cell Biology
https://www.readbyqxmd.com/read/28412068/vitreous-amyloidosis-ocular-systemic-and-genetic-insights
#10
Pradeep Venkatesh, Harathy Selvan, Sundararajan Baskar Singh, Divya Gupta, Seema Kashyap, Shreyas Temkar, Varun Gogia, Koushik Tripathy, Rohan Chawla, Rajpal Vohra
PURPOSE: To report the unique clinical and surgical characteristics encountered in eyes with vitreous amyloidosis. Systemic evaluation and visual outcome after vitrectomy are discussed. A novel mutation in the transthyretin gene (TTR) in Indian patients with familial amyloid polyneuropathy (FAP) is described. DESIGN: Retrospective, observational study. PARTICIPANTS: Ten eyes of 5 patients from 2 pedigrees with a diagnosis of vitreous amyloidosis...
April 12, 2017: Ophthalmology
https://www.readbyqxmd.com/read/28410768/-small-fiber-neuropathy
#11
V Langlois, A-L Bedat Millet, M Lebesnerais, S Miranda, F Marguet, Y Benhamou, P Marcorelles, H Lévesque
Small fiber neuropathy (SFN) is still unknown. Characterised by neuropathic pain, it typically begins by burning feet, but could take many other expression. SFN affects the thinly myelinated Aδ and unmyelinated C-fibers, by an inherited or acquired mechanism, which could lead to paresthesia, thermoalgic disorder or autonomic dysfunction. Recent studies suggest the preponderant role of ion channels such as Nav1.7. Furthermore, erythromelalgia or burning mouth syndrome are now recognized as real SFN. Various aetiologies of SFN are described...
April 11, 2017: La Revue de Médecine Interne
https://www.readbyqxmd.com/read/28408306/heart-failure-and-thermoregulatory-control-can-patients-with-heart-failure-handle-the-heat
#12
REVIEW
Bryce N Balmain, Surendran Sabapathy, Ollie Jay, Julie Adsett, Glenn M Stewart, Rohan Jayasinghe, Norman R Morris
Upon heat exposure, the thermoregulatory system evokes reflex increases in sweating and skin blood flow responses to facilitate heat dissipation and maintain heat balance to prevent the continuing rise in core temperature. These heat dissipating responses are mediated primarily by autonomic and cardiovascular adjustments; which if attenuated, may compromise thermoregulatory control. In patients with heart failure (HF), the neurohumoral and cardiovascular dysfunction that underpins this condition may potentially impair thermoregulatory responses and, consequently, place these patients at a greater risk of heat-related illness...
April 10, 2017: Journal of Cardiac Failure
https://www.readbyqxmd.com/read/28407519/skeletal-muscle-autophagy-and-its-role-in-sarcopenia-and-organismal-aging
#13
REVIEW
Jianqin Jiao, Fabio Demontis
Sarcopenia, the loss of skeletal muscle mass and strength in the aged, is an important medical condition but its etiology is incompletely understood. Because autophagy promotes myofiber atrophy in the young, it was believed that autophagy inhibition would prevent sarcopenia. However, recent studies have revealed that autophagy actually maintains muscle mass and that its function declines during muscle aging. Consistently, boosting basal autophagy protects from age-related muscle dysfunction by promoting the selective degradation of misfolded proteins and dysfunctional organelles...
April 10, 2017: Current Opinion in Pharmacology
https://www.readbyqxmd.com/read/28406285/serotonin-and-serotonin-transporters-in-the-adrenal-medulla-a-potential-hub-for-modulation-of-the-sympathetic-stress-response
#14
Rebecca L Brindley, Mary Beth Bauer, Randy D Blakely, Kevin P M Currie
Serotonin (5-HT) is an important neurotransmitter in the central nervous system where it modulates circuits involved in mood, cognition, movement, arousal, and autonomic function. The 5-HT transporter (SERT; SLC6A4) is a key regulator of 5-HT signaling, and genetic variations in SERT are associated with various disorders including depression, anxiety, and autism. This review focuses on the role of SERT in the sympathetic nervous system. Autonomic/sympathetic dysfunction is evident in patients with depression, anxiety, and other diseases linked to serotonergic signaling...
April 13, 2017: ACS Chemical Neuroscience
https://www.readbyqxmd.com/read/28400726/review-of-epidural-spinal-cord-stimulation-for-augmenting-cough-after-spinal-cord-injury
#15
REVIEW
Jan T Hachmann, Jonathan S Calvert, Peter J Grahn, Dina I Drubach, Kendall H Lee, Igor A Lavrov
Spinal cord injury (SCI) remains a debilitating condition for which there is no cure. In addition to loss of somatic sensorimotor functions, SCI is also commonly associated with impairment of autonomic function. Importantly, cough dysfunction due to paralysis of expiratory muscles in combination with respiratory insufficiency can render affected individuals vulnerable to respiratory morbidity. Failure to clear sputum can aggravate both risk for and severity of respiratory infections, accounting for frequent hospitalizations and even mortality...
2017: Frontiers in Human Neuroscience
https://www.readbyqxmd.com/read/28400125/age-dependent-decrease-of-gad65-67-mrnas-but-normal-densities-of-gabaergic-interneurons-in-the-brain-regions-of-shank3-overexpressing-manic-mouse-model
#16
Bokyoung Lee, Yinhua Zhang, Yoonhee Kim, Shinhyun Kim, Yeunkum Lee, Kihoon Han
Dysfunction of inhibitory GABAergic interneurons is considered a major pathophysiological feature of various neurodevelopmental and neuropsychiatric disorders. The variants of SHANK3 gene, encoding a core scaffold protein of the excitatory postsynapse, have been associated with numerous brain disorders. It has been suggested that abnormalities of GABAergic interneurons could contribute to the SHANK3-related disorders, but the limitation of these studies is that they used mainly Shank3 knock-out mice. Notably, Shank3-overexpressing transgenic mice, modeling human hyperkinetic disorders, also show reduced inhibitory synaptic transmission, abnormal electroencephalography, and spontaneous seizures...
April 8, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/28399651/facial-pain-overlapping-syndromes
#17
Stefan Evers
Premise This review summarises the pain syndromes that overlap between headache and facial pain and overlap between pain and cranial nerve lesion. Problem These syndromes share two features in common. First, they show both cranial nerve impairment (e.g. palsy, autonomic dysfunction) and pain; second, they have inflammatory (and/or small vessel) processes as the underlying mechanism. A typical representative of these syndromes is recurrent painful ophthalmoplegic neuropathy, which was previously called ophthalmoplegic migraine and was regarded as a migraine subtype...
January 1, 2017: Cephalalgia: An International Journal of Headache
https://www.readbyqxmd.com/read/28396041/association-of-holter-derived-heart-rate-variability-parameters-with-the-development-of-congestive-heart-failure-in-the-cardiovascular-health-study
#18
Vaiibhav N Patel, Brian R Pierce, Rohan K Bodapati, David L Brown, Diane G Ives, Phyllis K Stein
OBJECTIVES: This study sought to determine whether Holter-based parameters of heart rate variability (HRV) are independently associated with incident heart failure among older adults in the CHS (Cardiovascular Health Study) as evidenced by an improvement in the predictive power of the Health Aging and Body Composition Heart Failure (Health ABC) score. BACKGROUND: Abnormal HRV, a marker of autonomic dysfunction, has been associated with multiple adverse cardiovascular outcomes but not the development of congestive heart failure (CHF)...
March 30, 2017: JACC. Heart Failure
https://www.readbyqxmd.com/read/28395280/triple-a-syndrome-preliminary-response-to-the-antioxidant-n-acetylcysteine-treatment-in-a-child
#19
Maria Candida Barisson Villares Fragoso, Edoarda Vasco de Albuquerque Albuquerque, Ana Luiza de Almeida Cardoso, Paula Waki Lopes da Rosa, Rodrigo Bomeny de Paulo, Maria Heloisa Massola Schimizu, Antonio Carlos Seguro, Marisa Passarelli, Katrin Koehler, Angela Huebner, Madson Q Almeida, Ana Claudia Latronico, Ivo Jorge Prado Arnhold, Berenice Bilharinho Mendonca
INTRODUCTION: Triple A syndrome (AAAS) is a rare autosomal recessive disorder characterized by alacrima, achalasia, ACTH-resistant adrenal insufficiency, autonomic dysfunction, and progressive neurodegeneration. Increased oxidative stress, demonstrated in patients' fibroblasts in vitro, may be a central disease mechanism. N-acetylcysteine protects renal function in patients with kidney injuries associated with increased oxidative stress and improves viability of AAAS-knockdown adrenal cells in vitro...
April 10, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28394027/changes-in-the-cell-population-in-brain-white-matter-in-multiple-system-atrophy
#20
Charlotte Havelund Nykjaer, Tomasz Brudek, Lisette Salvesen, Bente Pakkenberg
BACKGROUND: Multiple system atrophy (MSA) is a sporadic progressive neurodegenerative disorder with adult onset and unknown etiology. Clinically it is characterized by autonomic failure, cerebellar ataxia, parkinsonism, and corticospinal dysfunction in any combination and with varying severity. OBJECTIVES AND METHODS: To establish the extent of involvement of the white matter in the disease, we have used stereology to quantify the total number of neurons and glial cells (oligodendrocytes, astrocytes, and microglia) in the brains from 10 MSA patients and 11 controls...
April 10, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
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