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autonomic sensory neuropathy

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https://www.readbyqxmd.com/read/29289840/founder-mutation-in-ikbkap-gene-causes-vestibular-impairment-in-familial-dysautonomia
#1
Joel V Gutiérrez, Horacio Kaufmann, Jose-Alberto Palma, Carlos Mendoza-Santiesteban, Vaughan G Macefield, Lucy Norcliffe-Kaufmann
OBJECTIVE: To assess vestibular function in patients with familial dysautonomia (FD), a hereditary sensory and autonomic neuropathy - caused by a mutation in the IKBKAP gene (c.2204 + 6 T>C) - and characterized by marked gait ataxia. METHODS: Cervical and vestibular evoked myogenic potentials (cVEMPs and oVEMPs) were recorded from the sternocleidomastoid (SCM) and extraocular muscles in 14 homozygous patients, 2 heterozygous patients, and 15 healthy controls during percussion of the forehead...
November 26, 2017: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://www.readbyqxmd.com/read/29280036/seronegative-autoimmune-autonomic-neuropathy-a-distinct-clinical-entity
#2
Elisabeth P Golden, Meredith A Bryarly, Steven Vernino
PURPOSE: Autoimmune autonomic ganglionopathy (AAG) is associated with ganglionic acetylcholine receptor (gAChR) antibodies. We describe a similar but distinct series of patients with autoimmune autonomic failure lacking this antibody. METHODS: Retrospective chart review. RESULTS: Six patients presented with subacute autonomic failure, seronegative for gAChR antibodies. Orthostatic hypotension and gastrointestinal complaints were common. Autonomic testing revealed predominant sympathetic failure and no premature pupillary redilation...
December 26, 2017: Clinical Autonomic Research: Official Journal of the Clinical Autonomic Research Society
https://www.readbyqxmd.com/read/29277966/role-of-inflammatory-biomarker-in-diabetic-peripheral-neuropathy
#3
Heung Yong Jin, Tae Sun Park
Diabetic peripheral neuropathy (DPN) is the most common chronic neurological complication of diabetes1 . Small and large peripheral nerve fibers may be involved in DPN. Large nerve fiber damage causes paresthesia, sensory loss, and muscle weakness and small nerve fiber damage is associated with pain, anesthesia, foot ulcer, and autonomic symptoms. However, the exact pathogenic mechanisms and diagnostic criteria for DPN are not firmly established currently. The present DPN prevention, diagnosis, and treatment strategies are incomplete and unsuccessful due to the various pathogenesis of systemic and cellular disturbance in glucose and lipid metabolism...
December 26, 2017: Journal of Diabetes Investigation
https://www.readbyqxmd.com/read/29229552/caspase-6-is-a-dispensable-enabler-of-adult-mammalian-axonal-degeneration
#4
V Woo, C Cheng, A Duraikannu, A Chandrasekhar, K Purdy, J A Martinez, D W Zochodne
The progress of axonal degeneration (AxD) following injury or insult impacts both recovery from axonal transection and protection of axons from diverse insults, or axonopathy. Here we provide evidence that increases in capase-6 (Casp6) expression and action contribute to the progression of AxD. The expression of Casp6 protein and mRNA in distal branches of sensory axons undergoing AxD was confirmed. We developed and utilized a new model of axonopathy in live mice by serially visualizing the viability of cutaneous axons in the ear pinna that expressed an axonal YFP transgene, in response to capasaicin-induced AxD...
December 8, 2017: Neuroscience
https://www.readbyqxmd.com/read/29226326/retreg1-fam134b-a-new-player-in-human-diseases-15-years-after-the-discovery-in-cancer
#5
REVIEW
Farhadul Islam, Vinod Gopalan, Alfred King-Yin Lam
FAM134B (family with sequence similarity 134, member B) / RETREG1 and its functional roles are relatively new in human diseases. This review aimed to summarize various functions of FAM134B since our first discovery of the gene in 2001. The protein encoded by FAM134B is a reticulophagy receptor that regulates turnover of the endoplasmic reticulum (ER) by selective phagocytosis. Absence or non-functional expression of FAM134B protein impairs ER-turnover and thereby is involved in the pathogenesis of some human diseases...
December 11, 2017: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/29187684/-a-case-of-hereditary-sensory-and-autonomic-neuropathy-type-1e-with-frontal-lobe-dysfunction-as-an-initial-symptom
#6
Masashi Watanabe, Yushi Matsumoto, Kensho Okamoto, Bungo Okuda, Ikuko Mizuta, Toshiki Mizuno
A 49-year-old man had developed gradually personality change, gait disturbance, and hearing loss for five years. On admission, he presented with frontal release signs, stuttering, vertical gaze palsy, sensorineural deafness, muscle rigidity, ataxia, and sensory disturbance with areflexia in the lower extremities. Brain MRI demonstrated atrophy in the cerebellum and midbrain tegmentum as well as cerebral atrophy, predominantly in the frontal lobe. He was tentatively diagnosed as progressive supranuclear palsy on the basis of clinical features and imagings...
November 28, 2017: Rinshō Shinkeigaku, Clinical Neurology
https://www.readbyqxmd.com/read/29168371/congenital-insensitivity-to-pain-how-should-anesthesia-be-managed
#7
Özlem Özmete, Mesut Şener, Çağla Bali, Esra Çalışkan, Anış Arıboğan
Özmete Ö, Şener M, Bali Ç, Çalışkan E, Arıboğan A. Congenital insensitivity to pain: How should anesthesia be managed? Turk J Pediatr 2017; 59: 87-89. Congenital insensitivity to pain syndrome is a rare, sensorial and autonomic neuropathy characterized by unexplained fever, insensitivity to pain and anhidrosis. Patients may require anesthesia even for minor surgical procedures due to mental retardation and trauma arising from self- mutilating behavior. A child diagnosed with congenital insensitivity to pain syndrome was scheduled for gastric endoscopy under sedation due to suspected ingestion of a household cleaning disinfectant...
2017: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/29159909/essential-role-of-brain-derived-neurotrophic-factor-bdnf-in-diabetic-erectile-dysfunction
#8
L Hu, S Qi, K Zhang, Q Fu
Erectile dysfunction (ED) is a worldwide problem threatens men's health. The incidence of ED in diabetic patients is higher than that in the healthy population. The incidence of peripheral and autonomic neuropathy is significantly higher in diabetic patients than in normal men. Vasomotor nerves play an important role in the regulation of erectile function. Degeneration of autonomic and sensory nerves is a common type of diabetic neuropathy (DNP) and is closely related to erectile function. Brain-derived neurotrophic factor (BDNF) has been demonstrated to improve diabetic erectile dysfunction in rat models and in humans...
November 21, 2017: Andrologia
https://www.readbyqxmd.com/read/29159194/multigeneration-family-with-dominant-spg30-hereditary-spastic-paraplegia
#9
Ricardo H Roda, Alice B Schindler, Craig Blackstone
Autosomal recessive KIF1A missense mutations cause hereditary spastic paraplegia (HSP) type SPG30, while recessive truncations lead to sensory and autonomic neuropathy (HSN2C) and many de novo missense mutations are associated with cognitive impairment. Here, we describe family members across three generations with pure HSP. A heterozygous p.Ser69Leu KIF1A mutation segregates with those afflicted. The same variant was previously reported in a Finnish father and son with pure HSP as well as four members of a Sicilian kindred with more intrafamilial phenotypic variability...
November 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/29154979/small-fiber-neuropathy-diagnosis-causes-and-treatment
#10
Damien Sène
Small fiber neuropathy, which affects the sensory A≏ and C fibers, is now a major diagnostic and therapeutic challenge. Nearly 7% of the general population have chronic neuropathic pain responsible for severe quality-of-life impairments. Awareness must therefore be raised among clinicians of the somatosensory and autonomic symptoms that can reveal small fiber neuropathy, appropriate diagnostic investigations, most common causes, and best treatment options for each patient profile. To help achieve this goal, the present review article discusses the clinical presentation of neuropathic pain and paresthesia and/or autonomic dysfunction due to involvement of nerves supplying exocrine glands and smooth muscle; normal findings from standard electrophysiological investigations; most informative diagnostic tests (epidermal nerve fiber density in a skin biopsy, laser-evoked potentials, heat- and cold-detection thresholds, electrochemical skin conductance); main causes, which consist chiefly of metabolic diseases (diabetes mellitus, glucose intolerance), dysimmunity syndromes (Sjögren's syndrome, sarcoidosis, monoclonal gammopathy), and genetic abnormalities (familial amyloidosis due to a transthyretin mutation, Fabry disease, sodium channel diseases); and the available symptomatic and etiological treatments...
November 15, 2017: Joint, Bone, Spine: Revue du Rhumatisme
https://www.readbyqxmd.com/read/29077663/anesthetic-management-of-a-patient-with-de-novo-hereditary-sensory-and-autonomic-neuropathy-type-vii-a-case-report
#11
Lorenzo Rafer, James Mooney
An 18-month-old patient with hereditary sensory and autonomic neuropathy, type VII undergoing general anesthesia for Nissen fundoplication and gastrostomy tube is presented. This is the first reported case of a patient with this particular genetic mutation receiving general anesthesia. We presented the major intraoperative events during the procedure. The anesthetic considerations and implications of caring for a patient with this particular mutation and patients with other variations of hereditary sensory and autonomic neuropathy are also discussed...
October 26, 2017: A & A Case Reports
https://www.readbyqxmd.com/read/29064042/treatment-induced-neuropathy-of-diabetes
#12
REVIEW
Christopher H Gibbons
PURPOSE OF REVIEW: Treatment-induced neuropathy of diabetes (TIND) is an under-recognized iatrogenic painful sensory and autonomic neuropathy. This review highlights the clinical symptoms and signs, raises awareness of the cause, and provides education about prevention of TIND. RECENT FINDINGS: TIND may be triggered by a rapid decline in the blood glucose levels following the use of insulin, oral hypoglycemic medications, or even diet only to control diabetes. This may be seen in up to 10% of patients with diabetic neuropathy and has the potential for significant long-term complications that could be avoided through careful disease management...
October 24, 2017: Current Diabetes Reports
https://www.readbyqxmd.com/read/29061384/motoneuron-degeneration-in-the-trigeminal-motor-nucleus-innervating-the-masseter-muscle-in-dystonia-musculorum-mice
#13
M Ibrahim Hossain, Masao Horie, Nozomu Yoshioka, Masayuki Kurose, Kensuke Yamamura, Hirohide Takebayashi
Dystonia musculorum (dt) mice, which have a mutation in the Dystonin (Dst) gene, are used as animal models to investigate the human disease known as hereditary sensory and autonomic neuropathy type VI. Massive neuronal cell death is observed, mainly in the peripheral nervous system (PNS) of dt mice. We and others have recently reported a histopathological feature of these mice that neurofilament (NF) accumulates in various areas of the central nervous system (CNS), including motor pathways. Although dt mice show motor disorder and growth retardation, the causes for these are still unknown...
October 20, 2017: Neurochemistry International
https://www.readbyqxmd.com/read/29042446/clinical-and-metabolic-consequences-of-l-serine-supplementation-in-hereditary-sensory-and-autonomic-neuropathy-type-1c
#14
Mari Auranen, Jussi Toppila, Saranya Suriyanarayanan, Museer A Lone, Anders Paetau, Henna Tyynismaa, Thorsten Hornemann, Emil Ylikallio
Hereditary sensory neuropathy type 1 (HSAN1) may be the first genetic neuropathy amenable to a specific mechanism-based treatment, as L-serine supplementation can be used to lower the neurotoxic levels of 1-deoxysphingolipids (1-deoxySL) that cause the neurodegeneration. The treatment is so far untested in HSAN1C caused by variants in the serine palmitoyl transferase subunit 2 (SPTLC2) gene. The aim of this study was to establish whether oral L-serine lowers 1-deoxySL in a patient with HSAN1C, to perform a dose escalation to find the minimal effective dose, and to assess the safety profile and global metabolic effects of the treatment...
October 17, 2017: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/29029847/the-diagnostic-challenge-of-small-fibre-neuropathy-clinical-presentations-evaluations-and-causes
#15
REVIEW
Astrid J Terkelsen, Páll Karlsson, Giuseppe Lauria, Roy Freeman, Nanna B Finnerup, Troels S Jensen
Small fibre neuropathies are a heterogeneous group of disorders affecting thinly myelinated Aδ-fibres and unmyelinated C-fibres. Although multiple causes of small nerve fibre degeneration have been reported, including via genetic mutations, the cause of small fibre neuropathy remains unknown in up to 50% of cases. The typical clinical presentation of small fibre neuropathy is that of a symmetrical, length-dependent polyneuropathy associated with sensory or autonomic symptoms. More rarely, the clinical presentation is characterised by non-length-dependent, focal, or multifocal symptoms...
November 2017: Lancet Neurology
https://www.readbyqxmd.com/read/28991715/clinical-and-pathological-findings-in-familial-amyloid-polyneuropathy-caused-by-a-transthyretin-e61k-mutation
#16
Tatsufumi Murakami, Hirotake Nishimura, Taiji Nagai, Shoji Hemmi, Yumiko Kutoku, Yutaka Ohsawa, Yoshihide Sunada
Familial amyloid polyneuropathy (FAP) is an autosomal dominant hereditary systemic amyloidosis caused by mutation of the transthyretin (TTR) gene, and usually shows sensory-dominant polyneuropathy and autonomic neuropathy at the initial stage. The pathogenesis of this neuropathy remains unknown, although several mechanisms, including mechanical compression, vessel occlusion, TTR toxicity and Schwann cell dysfunction have been proposed. We describe a patient with late-onset FAP caused by a TTR E61K mutation...
October 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28970182/pathophysiological-profiles-of-sdt-fatty-rats-a-potential-new-diabetic-peripheral-neuropathy-model
#17
Tatsuya Maekawa, Hironobu Tadaki, Tomohiko Sasase, Yu Motohashi, Katsuhiro Miyajima, Takeshi Ohta, Shinichi Kume
INTRODUCTION: To establish an animal model for diabetic peripheral neuropathy (DPN) at an earlier stage, we performed functional and pathophysiological evaluations in Spontaneously Diabetic Torii (SDT) fatty rats before 16weeks of age. METHODS: Male SDT fatty rats were treated with vehicle or phlorizin (100 to 150mg/kg/day) from 5 to 16weeks. Sprague-Dawley (SD) rats were used as age-matched controls. Body weights and biochemical parameters were measured over time...
September 29, 2017: Journal of Pharmacological and Toxicological Methods
https://www.readbyqxmd.com/read/28913607/diabetes-and-the-esophagus
#18
REVIEW
Roberto Monreal-Robles, José M Remes-Troche
Chronic hyperglycemia is a well-known cause of gastrointestinal motility disorders extending from the esophagus to the anorectum. Even though little attention has been paid to esophageal disorders in the context of DM, its prevalence is higher compared to gastroparesis. Heartburn, as a typical symptom of gastroesophageal reflux disease (GERD), is the most prevalent symptom and has been found in 25 to 41% of patients with DM. Furthermore, DM has recently been established as possible independent factor for the development of Barrett's esophagus...
December 2017: Current Treatment Options in Gastroenterology
https://www.readbyqxmd.com/read/28904462/clinical-spectrum-therapeutic-outcomes-and-prognostic-predictors-in-sjogren-s-syndrome-associated-neuropathy
#19
Ajith Sivadasan, Karthik Muthusamy, Bimal Patel, Rohit Ninan Benjamin, A T Prabhakar, Vivek Mathew, Sanjith Aaron, Mathew Alexander
OBJECTIVES: There are limited data regarding long-term follow-up and therapeutic outcomes in Sjogren's syndrome (SS)-associated peripheral neuropathy. In this study, we aim to study the clinical, electrophysiological spectrum and therapeutic responses among the different subtypes of SS-associated neuropathy. The predictors of suboptimal treatment response will be identified. METHODS: The study included a retrospective cohort of patients with SS-associated neuropathy between January 2012 and November 2015...
July 2017: Annals of Indian Academy of Neurology
https://www.readbyqxmd.com/read/28892950/riley-day-syndrome-in-a-hispanic-infant-of-non-jewish-ashkenazi-descent
#20
Abel Ramírez-Estudillo, Gerardo González-Saldivar, Itzel Espinosa-Soto, Jesús González-Cortez, Alejandro Salcido-Montenegro
Riley-Day syndrome is an autosomal recessive sensory and autonomic neuropathy. Patients present a lack of fungiform papilla, alacrima and usually feeding difficulties. It is present almost exclusively in Ashkenazi Jewish individuals and has a poor prognosis. We describe an unusual case of Riley-Day syndrome with pseudostrabismus in a non-Ashkenazi Jewish patient. A one-year-old female infant was referred for evaluation of strabismus, absence of fungiform papillae, feeding difficulty, gastroesophageal reflux and episodes of self-mutilation...
July 2017: Journal of Clinical and Diagnostic Research: JCDR
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