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autonomic sensory neuropathy

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https://www.readbyqxmd.com/read/27923065/mutations-in-the-heme-exporter-flvcr1-cause-sensory-neurodegeneration-with-loss-of-pain-perception
#1
Deborah Chiabrando, Marco Castori, Maja di Rocco, Martin Ungelenk, Sebastian Gießelmann, Matteo Di Capua, Annalisa Madeo, Paola Grammatico, Sophie Bartsch, Christian A Hübner, Fiorella Altruda, Lorenzo Silengo, Emanuela Tolosano, Ingo Kurth
Pain is necessary to alert us to actual or potential tissue damage. Specialized nerve cells in the body periphery, so called nociceptors, are fundamental to mediate pain perception and humans without pain perception are at permanent risk for injuries, burns and mutilations. Pain insensitivity can be caused by sensory neurodegeneration which is a hallmark of hereditary sensory and autonomic neuropathies (HSANs). Although mutations in several genes were previously associated with sensory neurodegeneration, the etiology of many cases remains unknown...
December 2016: PLoS Genetics
https://www.readbyqxmd.com/read/27916052/-hereditary-sensory-and-autonomic-neuropathy-ii-due-to-mutation-in-the-wnk1-gene-in-a-chinese-family
#2
L H Gao, S S Li, W Z Fu
No abstract text is available yet for this article.
December 1, 2016: Zhonghua Nei Ke za Zhi [Chinese Journal of Internal Medicine]
https://www.readbyqxmd.com/read/27898216/characterization-of-prostacyclin-associated-leg-pain-in-patients-with-pulmonary-arterial-hypertension
#3
Gabriel L Pagani-Estévez, Keith M Swetz, Michael D McGoon, Robert P Frantz, Susan K Tointon, Ann M Karnyski, Louise A Durst, James C Watson
RATIONALE: Prostacyclin-associated leg pain is a potentially debilitating adverse effect of prostacyclin therapy for patients with pulmonary arterial hypertension (PAH). However, to our knowledge, this entity has not been systematically studied. OBJECTIVE: To characterize the clinical features and metabolic risk factors for prostacyclinassociated leg pain. METHODS: At one academic medical center we assembled and analyzed a case series of patients with PAH and prostacyclin-associated leg pain...
November 29, 2016: Annals of the American Thoracic Society
https://www.readbyqxmd.com/read/27894750/risk-factors-for-autonomic-and-somatic-nerve-dysfunction-in-different-stages-of-glucose-tolerance
#4
Rumyana Dimova, Tsvetalina Tankova, Velina Guergueltcheva, Ivailo Tournev, Nevena Chakarova, Greta Grozeva, Lilia Dakovska
AIM: The present study evaluates autonomic and somatic nerve function in different stages of glucose tolerance and its correlation with different cardio-metabolic parameters. MATERIAL AND METHODS: Four hundred seventy-eight subjects, mean age 49.3±13.7years and mean BMI 31.0±6.2kg/m2, divided according to glucose tolerance: 130 with normal glucose tolerance (NGT), 227 with prediabetes (125 with impaired fasting glucose (IFG) and 102 with isolated impaired glucose tolerance (iIGT)), and 121 with newly-diagnosed T2D (NDT2D), were enrolled...
November 6, 2016: Journal of Diabetes and its Complications
https://www.readbyqxmd.com/read/27881717/localization-of-1-deoxysphingolipids-to-mitochondria-induces-mitochondrial-dysfunction
#5
Irina Alecu, Andrea Tedeschi, Natascha Behler, Klaus Wunderling, Christian Lamberz, Mario A R Lauterbach, Anne Gaebler, Daniela Ernst, Paul P Van Veldhoven, Ashraf Al-Amoudi, Eicke Latz, Alaa Othman, Lars Kuerschner, Thorsten Hornemann, Frank Bradke, Christoph Thiele, Anke Penno
1-Deoxysphingolipids (deoxySLs) are atypical sphingolipids that are elevated in the plasma of patients with type 2 diabetes and hereditary sensory and autonomic neuropathy type 1 (HSAN1). Clinically, diabetic neuropathy and HSAN1 are very similar, suggesting the involvement of deoxySLs in the pathology of both diseases. However, very little is known about the biology of these lipids and the underlying pathomechanism. We synthesized an alkyne analogue of 1-deoxysphinganine (doxSA), the metabolic precursor of all deoxySLs, to trace the metabolism and localization of deoxySLs...
November 23, 2016: Journal of Lipid Research
https://www.readbyqxmd.com/read/27869457/autosomal-dominant-cerebellar-ataxia-deafness-and-narcolepsy-adca-dn-associated-with-progressive-cognitive-and-behavioral-deterioration
#6
Lisa A S Walker, Pierre Bourque, Andra M Smith, Jodi Warman Chardon
Objective: Autosomal dominant cerebellar ataxia with deafness and narcolepsy (ADCA-DN) is an emerging syndrome caused by mutations in the C-terminus end of the TS domain of the DNMT1 gene. ADCA-DN is also associated with sensorimotor polyneuropathy, extrapyramidal, and dysautonomic signs, as well as dementia. Little has been reported about the progressive cognitive impairment associated with ADCA-DN. Our objective is to provide a detailed characterization of the cognitive profile of ADCA-DN. Method: Three members of a kindred with ADCA-DN underwent comprehensive neuropsychological testing and neuroimaging...
November 21, 2016: Neuropsychology
https://www.readbyqxmd.com/read/27814471/reference-data-of-the-european-organisation-for-research-and-treatment-of-cancer-eortc-qlq-cipn20-questionnaire-in-the-general-dutch-population
#7
Floortje Mols, Lonneke V van de Poll-Franse, Gerard Vreugdenhil, Antoinetta J Beijers, Jacobien M Kieffer, Neil K Aaronson, Olga Husson
OBJECTIVE: Chemotherapy-induced peripheral neuropathy (CIPN) is a debilitating side-effect of chemotherapy. However, CIPN symptoms are also reported by patients not receiving chemotherapy. Normative data could help interpret CIPN among cancer patients. Our aim was to generate normative data for the European Organisation for Research and Treatment of Cancer (EORTC) QLQ-CIPN20 Questionnaire designed to assess CIPN from the patients' perspective. The normative CIPN data have also been generated for stratified subgroups formed on the basis of sex, age and comorbidity...
November 1, 2016: European Journal of Cancer
https://www.readbyqxmd.com/read/27776522/inositol-1-4-5-trisphosphate-receptor-type-1-autoantibodies-in-paraneoplastic-and-non-paraneoplastic-peripheral-neuropathy
#8
Sven Jarius, Marius Ringelstein, Jürgen Haas, Irina I Serysheva, Lars Komorowski, Kai Fechner, Klaus-Peter Wandinger, Philipp Albrecht, Harald Hefter, Andreas Moser, Eva Neuen-Jacob, Hans-Peter Hartung, Brigitte Wildemann, Orhan Aktas
BACKGROUND: Recently, we described a novel autoantibody, anti-Sj/ITPR1-IgG, that targets the inositol 1,4,5-trisphosphate receptor type 1 (ITPR1) in patients with cerebellar ataxia. However, ITPR1 is expressed not only by Purkinje cells but also in the anterior horn of the spinal cord, in the substantia gelatinosa and in the motor, sensory (including the dorsal root ganglia) and autonomic peripheral nervous system, suggesting that the clinical spectrum associated with autoimmunity to ITPR1 may be broader than initially thought...
October 24, 2016: Journal of Neuroinflammation
https://www.readbyqxmd.com/read/27772781/congenital-insensitivity-to-pain-with-anhidrosis-a-report-of-two-siblings-with-a-novel-mutation-in-trka-ntrk1-gene-in-a-saudi-family
#9
Hussein Algahtani, Muhammad Imran Naseer, Mohammad Al-Qahtani, Shireen Abubakr Abdulrahman, Faisal Boker, Bader Shirah
Congenital insensitivity to pain with anhidrosis (CIPA) or hereditary sensory and autonomic neuropathy type IV (HSAN type IV) is an extremely rare autosomal recessive disorder with an estimated incidence of 1 in 25,000. It was first described in 1963, and since then several case reports and review articles have been published. In this article, we report two brothers with clinical features of CIPA, who presented with recurrent episodes of hyperthermia, anhidrosis, profound loss of pain sensitivity, and unconscious self-mutilation of fingers, lip and tongue...
November 15, 2016: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/27772759/congenital-insensitivity-to-pain-and-anhidrosis-case-report-and-review-of-findings-along-neuro-immune-axis-in-the-disorder
#10
Aditi Vian Varma, Lori McBride, Michael Marble, Ann Tilton
Congenital insensitivity to pain and anhidrosis (CIPA) is one of the hereditary autonomic and sensory neuropathies. Typically presenting in infancy, it manifests as hyperpyrexia from defects in sweating (autonomic) and self-mutilating injuries from pain insensitivity (sensory). CIPA being rare in North America, diagnosis is often missed due to variable presentation. Subsequent management of its complications is therefore delayed. We report an unusual presentation in a 2-year-old girl with preexisting diagnosis of CIPA who was evaluated for bilateral upper extremity paresis of insidious onset...
November 15, 2016: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/27765018/arthropathy-related-pain-in-a-patient-with-congenital-impairment-of-pain-sensation-due-to-hereditary-sensory-and-autonomic-neuropathy-type-ii-with-a-rare-mutation-in-the-wnk1-hsn2-gene-a-case-report
#11
Keiko Yamada, Junhui Yuan, Tomoo Mano, Hiroshi Takashima, Masahiko Shibata
BACKGROUND: Hereditary sensory and autonomic neuropathy (HSAN) type II with WNK1/HSN2 gene mutation is a rare disease characterized by early-onset demyelination sensory loss and skin ulceration. To the best of our knowledge, no cases of an autonomic disorder have been reported clearly in a patient with WNK/HSN2 gene mutation and only one case of a Japanese patient with the WNK/HSN2 gene mutation of HSAN type II was previously reported. CASE PRESENTATION: Here we describe a 54-year-old woman who had an early childhood onset of insensitivity to pain; superficial, vibration, and proprioception sensation disturbances; and several symptoms of autonomic failure (e...
October 21, 2016: BMC Neurology
https://www.readbyqxmd.com/read/27693510/characterization-of-novel-dystonia-musculorum-mutant-mice-implications-for-central-nervous-system-abnormality
#12
Masao Horie, Kazuyuki Mekada, Hiromi Sano, Yoshiaki Kikkawa, Satomi Chiken, Takuro Someya, Keisuke Saito, M Ibrahim Hossain, Masaaki Nameta, Kuniya Abe, Kenji Sakimura, Katsuhiko Ono, Atsushi Nambu, Atsushi Yoshiki, Hirohide Takebayashi
We identified a novel spontaneous mutant mouse showing motor symptoms that are similar to those of the dystonia musculorum (dt) mouse. The observations suggested that the mutant mice inherited the mild dt phenotype as an autosomal recessive trait. Linkage analysis showed that the causative gene was located near D1Mit373 and D1Mit410 microsatellite markers on chromosome 1, which are close to the dystonin (Dst) gene locus. To investigate whether Dst is the causative gene of the novel mutant phenotype, we crossed the mutant with Dst gene trap (Dst(Gt)) mice...
September 28, 2016: Neurobiology of Disease
https://www.readbyqxmd.com/read/27676246/a-comprehensive-functional-analysis-of-ntrk1-missense-mutations-causing-hereditary-sensory-and-autonomic-neuropathy-type-iv-hsan-iv
#13
Samiha S Shaikh, Ya-Chun Chen, Sally-Anne Halsall, Michael S Nahorski, Kiyoyuki Omoto, Gareth T Young, Anne Phelan, Christopher Geoffrey Woods
Hereditary sensory and autonomic neuropathy type IV (HSAN IV) is an autosomal recessive disorder characterized by a complete lack of pain perception and anhidrosis. Here, we studied a cohort of seven patients with HSAN IV and describe a comprehensive functional analysis of seven novel NTRK1 missense mutations, c.1550G>A, c.1565G>A, c.1970T>C, c.2096T>C, c.2254T>A, c.2288G>C, c.2311C>T, corresponding to p.G517E, p.G522E, p.L657P, p.I699T, p.C752S, p.C763S and p.R771C, all of which were predicted pathogenic by in-silico analysis...
September 27, 2016: Human Mutation
https://www.readbyqxmd.com/read/27672840/poster-72-teetering-on-the-edge-rehabilitation-in-a-medically-complex-patient-with-familial-dysautonomia-hereditary-sensory-autonomic-neuropathy-type-iii-a-case-report
#14
Derek J Ho, Daniel J Kao, Tracy Espiritu
No abstract text is available yet for this article.
September 2016: PM & R: the Journal of Injury, Function, and Rehabilitation
https://www.readbyqxmd.com/read/27666897/sle-neuropathy-anything-new
#15
Vikram A Londhey
SLE (systemic lupus erythematosus) is a multisystem autoimmune disorder of unknown aetiology which can present with myriad clinical presentation. The neurological manifestations of SLE consist of central nervous system (CNS) and peripheral nervous system manifestations (PNS). The CNS manifestations are aseptic meningitis, cerebrovascular accidents (stroke), demyelinating disorders, headache, involuntary movements like chorea, myelopathy, acute confusional states, cognitive dysfunction, mood disorder, seizures, psychosis and cranial nerve palsies...
December 2015: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/27663057/familial-amyloid-polyneuropathy-when-does-it-stop-to-be-asymptomatic-and-need-a-treatment
#16
D Adams, G Beaudonnet, C Adam, C Lacroix, M Théaudin, C Cauquil, C Labeyrie
Transthyretin familial amyloid polyneuropathy (FAP) is a rare disease with autosomal transmission due to point mutation of the transthyretin (TTR) gene. It is the most disabling hereditary neuropathy affecting sensory, motor and autonomic nerves, and is irreversible and fatal within 7 to 12 years of onset in the absence of therapy. Diagnosis is usually delayed for 1-5 years because the onset is usually insidious, and a positive family history is lacking in 50% of late-onset cases. Penetrance is variable, and depends of the age of the carrier and age of onset in family members...
October 2016: Revue Neurologique
https://www.readbyqxmd.com/read/27660061/small-fiber-neuropathy-in-children-two-case-reports-illustrating-the-importance-of-recognition
#17
Janneke G J Hoeijmakers, Catharina G Faber, Carien J Miedema, Ingemar S J Merkies, Johan S H Vles
Small fiber neuropathy (SFN) is a debilitating condition that often leads to pain and autonomic dysfunction. In the last few decades, SFN has been gaining more attention, particularly in adults. However, literature about SFN in children remains limited. The present article reports the cases of 2 adolescent girls diagnosed with SFN. The first patient (14 years of age) complained about painful itch and tingling in her legs, as well as dysautonomia symptoms for years. She also reported a red/purple-type discoloration of her legs aggravated by warmth and standing, compatible with erythromelalgia...
September 22, 2016: Pediatrics
https://www.readbyqxmd.com/read/27649399/foot-temperature-trends-in-normal-diabetic-and-neuropathic-foot-populations
#18
Azza Alalwee, Jonathan D LeSar, Mina Ghassemi, Eugene Cheng, Steven Stuto, Lawrence Osher, Scott Bastian, Vincent J Hetherington, Jill Kawalec
INTRODUCTION AND OBJECTIVES: Patients with underlying peripheral neuropathy are subject to changes in foot temperature. (1,2) Of the many forms of neuropathy that affect the lower extremity, the most notable are those types associated with diabetes. The aim of this study was to look for differences in temperatures between uncomplicated diabetic, diabetic neuropathic, and non-diabetic neuropathic feet. METHODS: The feet of 75 subjects were divided into 3 groups: 1) normal (n=50 feet), 2) diabetic (n=50 feet), and 3) neuropathic (n=49 feet)...
September 2016: Journal of the American Podiatric Medical Association
https://www.readbyqxmd.com/read/27637569/orthopaedic-manifestations-of-congenital-indifference-to-pain-with-anhidrosis-hereditary-sensory-and-autonomic-neuropathy-type-iv
#19
Babar Kayani, Mathew David Sewell, Johnson Platinum, Andre Olivier, Timothy W R Briggs, Deborah M Eastwood
BACKGROUND: Congenital indifference to pain with anhidrosis (CIPA) is a rare hereditary neuropathy, which is associated with defective sensation to noxious stimuli and autonomic dysfunction. The objective of the study was to report on the orthopaedic manifestations of this condition and provide an evidence-based approach for management. METHODS: Retrospective review of 14 consecutive patients with CIPA referred to a single tertiary centre. Mean age of diagnosis was 2...
September 6, 2016: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/27561110/familial-dysautonomia-mechanisms-and-models
#20
Paula Dietrich, Ioannis Dragatsis
Hereditary Sensory and Autonomic Neuropathies (HSANs) compose a heterogeneous group of genetic disorders characterized by sensory and autonomic dysfunctions. Familial Dysautonomia (FD), also known as HSAN III, is an autosomal recessive disorder that affects 1/3,600 live births in the Ashkenazi Jewish population. The major features of the disease are already present at birth and are attributed to abnormal development and progressive degeneration of the sensory and autonomic nervous systems. Despite clinical interventions, the disease is inevitably fatal...
August 4, 2016: Genetics and Molecular Biology
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