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autonomic sensory neuropathy

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https://www.readbyqxmd.com/read/29768202/sensory-neuropathy-causing-mutations-in-atl3-cause-aberrant-er-membrane-tethering
#1
Michiel Krols, Sammy Detry, Bob Asselbergh, Leonardo Almeida-Souza, Anna Kremer, Saskia Lippens, Riet De Rycke, Vicky De Winter, Franz-Josef Müller, Ingo Kurth, Harvey T McMahon, Savvas N Savvides, Vincent Timmerman, Sophie Janssens
The endoplasmic reticulum (ER) is a complex network of sheets and tubules that is continuously remodeled. The relevance of this membrane dynamics is underscored by the fact that mutations in atlastins (ATLs), the ER fusion proteins in mammals, cause neurodegeneration. How defects in this process disrupt neuronal homeostasis is unclear. Using electron microscopy (EM) volume reconstruction of transfected cells, neurons, and patient fibroblasts, we show that hereditary sensory and autonomic neuropathy (HSAN)-causing ATL3 mutants promote aberrant ER tethering hallmarked by bundles of laterally attached ER tubules...
May 15, 2018: Cell Reports
https://www.readbyqxmd.com/read/29760923/finger-drop-sign-characteristic-pattern-of-distal-weakness-in-guillain-barr%C3%A3-syndrome-a-case-report-and-review-of-the-literature
#2
Yong Chuan Chee, Beng Hooi Ong
Guillain-Barré Syndrome is an acquired acute autoimmune polyradiculoneuropathy that commonly presents with limb weakness and occasional cranial nerve, respiratory and autonomic involvement. Although the classic description of Guillain-Barré Syndrome is that of a demyelinating neuropathy with ascending weakness, predominant bilateral finger drop as presenting feature has rarely been reported. A characteristic pattern of weakness involving the extensor components of the fingers known as "finger drop sign" has been first described to be specific in acute motor axonal neuropathy form of Guillain-Barré Syndrome in the literature...
2018: SAGE Open Medical Case Reports
https://www.readbyqxmd.com/read/29584606/hereditary-sensory-and-autonomic-neuropathy-presenting-with-mutilating-trophic-ulcers
#3
Deepak Kumar Mathur, Chaitra Prakash, Puneet Bhargava, Vijay Paliwal, Kusum Mathur
Two siblings, a 19-year-old woman and an 18-year-old man, born to apparently normal parents of second-degree consanguineous marriage, presented to the Department of Dermatology, Sawai Man Singh Medical College Hospital, Jaipur, India, with recurrent skin ulcers of the hands and feet since early childhood. The ulcers were spontaneous, slow to heal, and caused deformities. On initial examination, they were found to have distal sensory loss, predominantly to pain and temperature. The patients were diagnosed with hereditary sensory and autonomic neuropathy of ulceromutilating type (Type 2) based on clinical evidences, nerve studies, and neuropathology...
March 2018: Wounds: a Compendium of Clinical Research and Practice
https://www.readbyqxmd.com/read/29568686/transthyretin-familial-amyloid-polyneuropathy-ttr-fap-parameters-for-early-diagnosis
#4
Fabiola Escolano-Lozano, Ana Paula Barreiros, Frank Birklein, Christian Geber
Background: Familial transthyretin amyloidosis is a life-threatening disease presenting with sensorimotor and autonomic polyneuropathy. Delayed diagnosis has a detrimental effect on treatment and prognosis. To facilitate diagnosis, we analyzed data patterns of patients with transthyretin familial amyloid polyneuropathy (TTR-FAP) and compared them to polyneuropathies of different etiology for clinical and electrophysiological discriminators. Methods: Twenty-four patients with TTR-FAP and 48 patients with diabetic polyneuropathy (dPNP) were investigated (neurological impairment score NIS; neurological disability score NDS) in a cross-sectional design...
January 2018: Brain and Behavior
https://www.readbyqxmd.com/read/29558039/analysis-of-peripheral-nerve-and-autonomic-nervous-system-function-and-the-stage-of-microangiopathy-in-patients-with-secondary-raynaud-s-phenomenon-in-the-course-of-connective-tissue-diseases
#5
Izabela Gosk-Bierska, Maria Misterska-Skóra, Marta Wasilewska, Małgorzata Bilińska, Jerzy Gosk, Rajmund Adamiec, Magdalena Koszewicz
BACKGROUND: The pathogenesis of secondary Raynaud's phenomenon (SRP) associated with connective tissue diseases (CTD) is not entirely understood. Nervous system dysfunction and microangiopathy are considered to be causes of this pathology. OBJECTIVES: Peripheral and autonomic nervous system function, the stage of microangiopathy, and the relationships between these in patients with SRP were analyzed. MATERIAL AND METHODS: In the study, 20 patients with CTD-related SRP and 30 healthy controls were subject to capillaroscopy, standard conduction velocity tests and conduction velocity distribution (CVD) tests in ulnar and peroneal nerves, heart rate variability (HRV), and sympathetic skin response (SSR) tests...
March 20, 2018: Advances in Clinical and Experimental Medicine: Official Organ Wroclaw Medical University
https://www.readbyqxmd.com/read/29518270/myelin-abnormality-in-charcot-marie-tooth-type-4j-recapitulates-features-of-acquired-demyelination
#6
Bo Hu, Megan McCollum, Vignesh Ravi, Sezgi Arpag, Daniel Moiseev, Ryan Castoro, Bret Mobley, Bryan Burnette, Carly Siskind, John Day, Robin Yawn, Shawna Feely, Yuebing Li, Qing Yan, Michael Shy, Jun Li
OBJECTIVE: Charcot-Marie-Tooth type 4J (CMT4J) is a rare autosomal recessive neuropathy caused by mutations in FIG4 that result in loss of FIG4 protein. This study investigates the natural history and mechanisms of segmental demyelination in CMT4J. METHODS: Over the past 9 years, we have enrolled and studied a cohort of 12 CMT4J patients, including 6 novel FIG4 mutations. We evaluated these patients and related mouse models using morphological, electrophysiological, and biochemical approaches...
April 2018: Annals of Neurology
https://www.readbyqxmd.com/read/29511897/autonomic-involvement-in-hereditary-transthyretin-amyloidosis-hattr-amyloidosis
#7
REVIEW
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
https://www.readbyqxmd.com/read/29494638/glycogen-synthase-kinase-3%C3%A3-functions-as-a-positive-effector-in-the-wnk-signaling-pathway
#8
Atsushi Sato, Hiroshi Shibuya
The with no lysine (WNK) protein kinase family is conserved among many species. Some mutations in human WNK gene are associated with pseudohypoaldosteronism type II, a form of hypertension, and hereditary sensory and autonomic neuropathy type 2A. In kidney, WNK regulates the activity of STE20/SPS1-related, proline alanine-rich kinase and/or oxidative-stress responsive 1, which in turn regulate ion co-transporters. The misregulation of this pathway is involved in the pathogenesis of pseudohypoaldosteronism type II...
2018: PloS One
https://www.readbyqxmd.com/read/29490222/predictors-of-respiratory-failure-in-patients-with-guillain-barr%C3%A3-syndrome-a-systematic-review-and-meta-analysis
#9
Cameron Green, Tess Baker, Ashwin Subramaniam
OBJECTIVE: To systematically review the literature regarding the ability of clinical features to predict respiratory failure in patients with Guillain-Barré syndrome (GBS). DATA SOURCES: We searched the PubMed and Ovid MEDLINE databases with the search terms "guillain barre syndrome" OR "acute inflammatory demyelinating polyneuropathy" OR "acute motor axonal neuropathy" OR "acute motor sensory axonal neuropathy" AND "respiratory failure" OR "mechanical ventilation"...
March 5, 2018: Medical Journal of Australia
https://www.readbyqxmd.com/read/29483280/swedish-nerve-growth-factor-mutation-ngf-r100w-defines-a-role-for-trka-and-p75-ntr-in-nociception
#10
Kijung Sung, Luiz F Ferrari, Wanlin Yang, ChiHye Chung, Xiaobei Zhao, Yingli Gu, Suzhen Lin, Kai Zhang, Bianxiao Cui, Matthew L Pearn, Michael T Maloney, William C Mobley, Jon D Levine, Chengbiao Wu
Nerve growth factor (NGF) exerts multiple functions on target neurons throughout development. The recent discovery of a point mutation leading to a change from arginine to tryptophan at residue 100 in the mature NGFβ sequence (NGFR100W ) in patients with hereditary sensory and autonomic neuropathy type V (HSAN V) made it possible to distinguish the signaling mechanisms that lead to two functionally different outcomes of NGF: trophic versus nociceptive. We performed extensive biochemical, cellular, and live-imaging experiments to examine the binding and signaling properties of NGFR100W Our results show that, similar to the wild-type NGF (wtNGF), the naturally occurring NGFR100W mutant was capable of binding to and activating the TrkA receptor and its downstream signaling pathways to support neuronal survival and differentiation...
April 4, 2018: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/29408540/approach-to-peripheral-neuropathy-for-the-primary-care-clinician
#11
REVIEW
Christopher T Doughty, Reza Seyedsadjadi
Peripheral neuropathy is commonly encountered in the primary care setting and is associated with significant morbidity, including neuropathic pain, falls, and disability. The clinical presentation of neuropathy is diverse, with possible symptoms including weakness, sensory abnormalities, and autonomic dysfunction. Accordingly, the primary care clinician must be comfortable using the neurologic examination-including the assessment of motor function, multiple sensory modalities, and deep tendon reflexes-to recognize and characterize neuropathy...
February 2, 2018: American Journal of Medicine
https://www.readbyqxmd.com/read/29375121/guillain-barr%C3%A3-syndrome-transverse-myelitis-and-infectious-diseases
#12
REVIEW
Yhojan Rodríguez, Manuel Rojas, Yovana Pacheco, Yeny Acosta-Ampudia, Carolina Ramírez-Santana, Diana M Monsalve, M Eric Gershwin, Juan-Manuel Anaya
Guillain-Barré syndrome (GBS) and transverse myelitis (TM) both represent immunologically mediated polyneuropathies of major clinical importance. Both are thought to have a genetic predisposition, but as of yet no specific genetic risk loci have been clearly defined. Both are considered autoimmune, but again the etiologies remain enigmatic. Both may be induced via molecular mimicry, particularly from infectious agents and vaccines, but clearly host factor and co-founding host responses will modulate disease susceptibility and natural history...
January 29, 2018: Cellular & Molecular Immunology
https://www.readbyqxmd.com/read/29353627/reflexology-in-the-management-of-chemotherapy-induced-peripheral-neuropathy-a-pilot-randomized-controlled-trial
#13
Seda Kurt, Gulbeyaz Can
PURPOSE: The current experimental study aimed to evaluate the effectiveness of reflexology on the management of symptoms and functions of chemotherapy-induced peripheral neuropathy (CIPN) in cancer patients. METHOD: This study was conducted as a randomized controlled trial in 60 patients (30 experimental and 30 control patients) who had chemotherapy-induced Grade II-IV peripheral neuropathy complaints from July 2013 to November 2015. Data were collected using the patient identification form, European Organization for the Research and Treatment of Cancer Quality of Life Questionnaire Chemotherapy-Induced Peripheral Neuropathy (EORTC-CIPN-20) form, and BPI (used for related chemotherapy-induced peripheral neuropathy symptoms)...
February 2018: European Journal of Oncology Nursing: the Official Journal of European Oncology Nursing Society
https://www.readbyqxmd.com/read/29343286/diagnosis-and-management-of-transthyretin-familial-amyloid-polyneuropathy-in-japan-red-flag-symptom-clusters-and-treatment-algorithm
#14
REVIEW
Yoshiki Sekijima, Mitsuharu Ueda, Haruki Koike, Sonoko Misawa, Tomonori Ishii, Yukio Ando
Hereditary ATTR (ATTRm) amyloidosis (also called transthyretin-type familial amyloid polyneuropathy [ATTR-FAP]) is an autosomal-dominant, adult-onset, rare systemic disorder predominantly characterized by irreversible, progressive, and persistent peripheral nerve damage. TTR gene mutations (e.g. replacement of valine with methionine at position 30 [Val30Met (p.Val50Met)]) lead to destabilization and dissociation of TTR tetramers into variant TTR monomers, which form amyloid fibrils that deposit in peripheral nerves and various organs, giving rise to peripheral and autonomic neuropathy and several non-disease specific symptoms...
January 17, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29289840/founder-mutation-in-ikbkap-gene-causes-vestibular-impairment-in-familial-dysautonomia
#15
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
#16
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...
February 2018: Clinical Autonomic Research: Official Journal of the Clinical Autonomic Research Society
https://www.readbyqxmd.com/read/29277966/role-of-inflammatory-biomarkers-in-diabetic-peripheral-neuropathy
#17
Heung Yong Jin, Tae Sun Park
Inflammatory pathway from hyperglycemia to diabetic peripheral neuropathy is very important in diagnosis and management. Inflammatory cytokine can be used for prediction and progression of diabetic peripheral neuropathy.
December 26, 2017: Journal of Diabetes Investigation
https://www.readbyqxmd.com/read/29229552/caspase-6-is-a-dispensable-enabler-of-adult-mammalian-axonal-degeneration
#18
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...
February 10, 2018: Neuroscience
https://www.readbyqxmd.com/read/29226326/retreg1-fam134b-a-new-player-in-human-diseases-15-years-after-the-discovery-in-cancer
#19
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...
June 2018: 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
#20
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...
December 27, 2017: Rinshō Shinkeigaku, Clinical Neurology
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