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Proximal neuropathy

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https://www.readbyqxmd.com/read/28720009/the-effect-of-isolated-finger-stiffness-on-adjacent-digit-function
#1
Rasha Baaqeel, Kitty Wu, Shrikant J Chinchalkar, Douglas C Ross
BACKGROUND: Isolated stiffness in a single finger can affect the function of adjacent digits and decrease overall hand function due to the quadriga phenomenon. This study objectively quantifies the dysfunctional impact of each individual stiff finger upon the remaining digits. METHODS: Twenty-five individuals (10 men and 15 women) with a mean age of 31 years (range, 18-58 years) without any upper limb pathology, neuropathy, or systemic illness were recruited. Volar-based finger splints were used to hold individual digits of the dominant hand (24 right and 1 left) sequentially in full extension at the metacarpophalangeal (MCP), proximal interphalangeal (PIP), and distal interphalangeal (DIP) joints...
March 1, 2017: Hand: Official Journal of the American Association for Hand Surgery
https://www.readbyqxmd.com/read/28709447/cryptic-amyloidogenic-elements-in-mutant-nefh-causing-charcot-marie-tooth-2-trigger-aggresome-formation-and-neuronal-death
#2
Arnaud Jacquier, Cécile Delorme, Edwige Belotti, Raoul Juntas-Morales, Guilhem Solé, Odile Dubourg, Marianne Giroux, Claude-Alain Maurage, Valérie Castellani, Adriana Rebelo, Alexander Abrams, Stephan Züchner, Tanya Stojkovic, Laurent Schaeffer, Philippe Latour
Neurofilament heavy chain (NEFH) gene was recently identified to cause autosomal dominant axonal Charcot-Marie-Tooth disease (CMT2cc). However, the clinical spectrum of this condition and the physio-pathological pathway remain to be delineated. We report 12 patients from two French families with axonal dominantly inherited form of CMT caused by two new mutations in the NEFH gene. A remarkable feature was the early involvement of proximal muscles of the lower limbs associated with pyramidal signs in some patients...
July 14, 2017: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/28688623/neuropsychiatric-debut-as-a-presentation-of-guillain-barr%C3%A3-syndrome-an-atypical-clinical-case-and-literature-review
#3
Dinesh Sangroula, Richard Durrance, Shirshak Bhattarai, Thambirajah Nandakumar
INTRODUCTION: Guillain Barré Syndrome (GBS) is an acute immune-mediated polyneuropathy most frequently presenting two to four weeks after an acute mild-moderately severe infection as progressive muscular weakness of the lower limbs extending proximally with dysreflexia and autonomic dysfunction. While GBS is typically believed to be isolated to the Peripheral Nervous System, Central Nervous System (CNS) and psychiatric manifestations as a sequela of the disease have been described in different imaging and clinical studies...
July 5, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/28685718/clinical-characteristics-electrophysiology-and-skin-biopsy-of-38-peripheral-neuropathy-cases-with-small-fiber-involvement-of-various-etiologies
#4
Bo Sun, Li-Zhi Liu, Yi-Fan Li, Zhao-Hui Chen, Li Ling, Fei Yang, Fang Cui, Xu-Sheng Huang
BACKGROUND: In small fiber neuropathy (SFN), thinly myelinated Aδ and unmyelinated C fibers are primarily affected, resulting in sensory and/or autonomic symptoms. Various etiologies have been shown to be associated with SFN. This study was aimed to analyze a variety of features in peripheral neuropathy (PN) with small fiber involvement, and to compare disease severity among patients with idiopathic PN, PN associated with impaired glucose tolerance (IGT), and metabolic syndrome (MS) PN...
July 20, 2017: Chinese Medical Journal
https://www.readbyqxmd.com/read/28667178/a-new-potential-biomarker-for-dementia-with-lewy-bodies-skin-nerve-%C3%AE-synuclein-deposits
#5
Vincenzo Donadio, Alex Incensi, Giovanni Rizzo, Sabina Capellari, Roberta Pantieri, Michelangelo Stanzani Maserati, Grazia Devigili, Roberto Eleopra, Giovanni Defazio, Federico Montini, Agostino Baruzzi, Rocco Liguori
OBJECTIVE: To investigate whether (1) phosphorylated α-synuclein (p-syn) deposits in skin nerves could be useful in differentiating dementia with Lewy bodies (DLB) from different forms of dementia and (2) small fiber neuropathy (SFN) is associated with DLB. METHODS: We studied 18 well-characterized patients with DLB (11 with autonomic dysfunction), 23 patients with nonsynucleinopathy dementia (NSD; 13 with young-onset Alzheimer disease dementia, 6 frontotemporal dementia, and 4 vascular dementia), and 25 healthy controls...
June 30, 2017: Neurology
https://www.readbyqxmd.com/read/28646510/compound-muscle-action-potential-duration-in-critical-illness-neuromyopathy
#6
Christopher L Kramer, Andrea J Boon, C Michel Harper, Brent P Goodman
BACKGROUND: We sought to determine the specificity of compound muscle action potential (CMAP) durations and amplitudes in a large critical illness neuromyopathy (CINM) cohort relative to controls with other neuromuscular conditions. METHODS: Fifty-eight patients with CINM seen over a 17-year period were retrospectively studied. Electrodiagnostic findings of the CINM cohort were compared with patients with axonal peripheral neuropathy and myopathy due to other causes...
June 23, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28634514/cystic-lesions-of-peripheral-nerves-are-we-missing-the-diagnosis-of-the-intraneural-ganglion-cyst
#7
Jyoti Panwar, Anil Mathew, Binu P Thomas
AIM: To highlight the salient magnetic resonance imaging (MRI) features of the intraneural ganglion cyst (INGC) of various peripheral nerves for their precise diagnosis and to differentiate them from other intra and extra-neural cystic lesions. METHODS: A retrospective analysis of the magnetic resonance (MR) images of a cohort of 245 patients presenting with nerve palsy involving different peripheral nerves was done. MR images were analyzed for the presence of a nerve lesion, and if found, it was further characterized as solid or cystic...
May 28, 2017: World Journal of Radiology
https://www.readbyqxmd.com/read/28620719/large-coverage-mr-neurography-in-cidp-diagnostic-accuracy-and-electrophysiological-correlation
#8
Moritz Kronlage, Philipp Bäumer, Kalliopi Pitarokoili, Daniel Schwarz, Véronique Schwehr, Tim Godel, Sabine Heiland, Ralf Gold, Martin Bendszus, Min-Suk Yoon
The objective of this study was to evaluate large coverage magnetic resonance neurography (MRN) in chronic inflammatory demyelinating polyneuropathy (CIDP). In this prospective study, 18 patients with CIDP and 18 healthy controls were examined by a standardized MRN protocol at 3 T. Lumbosacral plexus was imaged by a T2-weighted 3D sequence and peripheral nerves of the upper and lower extremity by axial T2-weighted turbo spin-echo sequences. Lesions were characterized by nerve cross-sectional area (CSA) and T2-weighted signal (nT2)...
July 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28595831/-charcot-marie-tooth-disease-associated-with-hip-dysplasia-in-an-adolescent
#9
T Langlais, J-C Leonard, C Ursu, C Morin
Charcot-Marie-Tooth disease (CMT) is classified into hereditary motor and sensory neuropathy and can induce severe neuro-orthopaedics deformities, disabling at an early age. Hip dysplasia is present in 6% of CMT patients affecting preferentially CMT1 patients and can appear from the age of 8 years. The pathophysiological is paradoxical because we are confronted with proximal osteoarthritis deformations but genetics research brings use new trail. The main functional complaint is a hip joint pain during walking...
June 5, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28594495/ulnar-tunnel-syndrome-radial-tunnel-syndrome-anterior-interosseous-nerve-syndrome-and-pronator-syndrome
#10
Adam B Strohl, David S Zelouf
In addition to the more common carpal tunnel and cubital tunnel syndromes, orthopaedic surgeons must recognize and manage other potential sites of peripheral nerve compression. The distal ulnar nerve may become compressed as it travels through the wrist, which is known as ulnar tunnel or Guyon canal syndrome. The posterior interosseous nerve may become entrapped in the proximal forearm as it travels through the radial tunnel, which results in a pain syndrome without motor weakness. The median nerve may become entrapped in the proximal forearm, which can result in a variety of symptoms...
February 15, 2017: Instructional Course Lectures
https://www.readbyqxmd.com/read/28578139/altered-leverage-around-the-ankle-in-people-with-diabetes-a-natural-strategy-to-modify-the-muscular-contribution-during-walking
#11
Milos Petrovic, Kevin Deschamps, Sabine M Verschueren, Frank L Bowling, Constantinos N Maganaris, Andrew J M Boulton, Neil D Reeves
Diabetes patients display gait alterations compared to controls including a higher metabolic cost of walking. This study aimed to investigate whether differences in external moment arm (ExtMA) and effective mechanical advantage (EMA) at the ankle in diabetes patients could partly explain the increased cost of walking compared to controls. Thirty one non-diabetic controls (Ctrl); 22 diabetes patients without peripheral neuropathy (DM) and 14 patients with moderate/severe diabetic peripheral neuropathy (DPN) underwent gait analysis using a motion analysis system and force plates...
May 19, 2017: Gait & Posture
https://www.readbyqxmd.com/read/28560607/femoral-nerve-and-lumbar-plexus-injury-after-minimally-invasive-lateral-retroperitoneal-transpsoas-approach-electrodiagnostic-prognostic-indicators-and-a-roadmap-to-recovery
#12
Naomi A Abel, Jacob Januszewski, Andrew C Vivas, Juan S Uribe
Injury to the lumbosacral (LS) plexus is a well-described complication after lateral retroperitoneal transpsoas approaches to the spine. The prognosis for functional recovery after lumbosacral plexopathy or femoral/obturator neuropathy is unclear. We designed a retrospective case-control study with patients undergoing one-level lateral retroperitoneal transpsoas lumbar interbody fusion (LLIF) between January 2011 and June 2016 to correlate electrodiagnostic assessments (EDX) to physiologic concepts of nerve injury and reinnervation, and attempt to build a timeline for patient evaluation and recovery...
May 30, 2017: Neurosurgical Review
https://www.readbyqxmd.com/read/28544463/axonal-charcot-marie-tooth-neuropathy-concurrent-with-distal-and-proximal-weakness-by-translational-elongation-of-the-3-utr-in-nefh
#13
Da Eun Nam, Sung-Chul Jung, Da Hye Yoo, Sun Seong Choi, Sung-Yum Seo, Gwang Hoon Kim, Song-Ja Kim, Soo Hyun Nam, Byung-Ok Choi, Ki Wha Chung
Mutations in the NEFH gene encoding the heavy neurofilament protein are usually associated with neuronal damage and susceptibility to amyotrophic lateral sclerosis (ALS). Recently, frameshift variants in NEFH (p.Asp1004Glnfs*58 and p.Pro1008Alafs*56) have been reported to be the underlying cause of axonal Charcot-Marie-Tooth disease type 2CC (CMT2CC). The frameshift mutation resulted in a stop loss and translation of a cryptic amyloidogenic element (CAE) encoded by the 3' UTR. This study also identified a de novo c...
May 24, 2017: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/28503544/update-on-foregut-molecular-embryology-and-role-of-regenerative-medicine-therapies
#14
REVIEW
Silvia Perin, Conor J McCann, Osvaldo Borrelli, Paolo De Coppi, Nikhil Thapar
Esophageal atresia (OA) represents one of the commonest and most severe developmental disorders of the foregut, the most proximal segment of the gastrointestinal (GI) tract (esophagus and stomach) in embryological terms. Of intrigue is the common origin from this foregut of two very diverse functional entities, the digestive and respiratory systems. OA appears to result from incomplete separation of the ventral and dorsal parts of the foregut during development, resulting in disruption of esophageal anatomy and frequent association with tracheo-oesophageal fistula...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/28491317/marathoning-with-myotonic-dystrophy-type-2-proximal-myotonic-myopathy-and-leukopenia
#15
Josef Finsterer, Georg Safoschnik, Martina Witsch-Baumgartner
OBJECTIVES: A mild, slowly progressive course of proximal myotonic myopathy, also known as myotonic dystrophy type 2, over years allowing the patient to continue with extreme sport activity, has been only rarely reported. METHODS: Case report. RESULTS: The patient is a 54-year-old female sport teacher who developed myotonia of the distal upper limbs at the age of 32 years. Over the following 22 years, myotonia spreaded to the entire musculature...
2017: SAGE open medical case reports
https://www.readbyqxmd.com/read/28485505/posterior-interosseous-nerve-syndrome-after-pneumatic-hammer-use-an-uncommon-condition
#16
Bernardo Nunes, Francisco Serdoura, Luísa Vital, Manuel Seara, Rui Pinto
This case report presents a 27 year-old manual worker with right wrist extension deficit after pneumatic hammer handling. MRI and electromyographic studies revealed partial compromise of the posterior interosseous nerve (PIN) proximal to the branch for the extensor digitorum communis. The patient enrolled a 6-week rehabilitation period and recovered without remaing symptoms. PIN syndrome has mostly been associated with compressive neuropathies of the upper limb, but has seldom been reported in labor contexts...
July 2017: American Journal of Industrial Medicine
https://www.readbyqxmd.com/read/28483187/managing-chronic-kidney-disease-and-chemotherapy-induced-peripheral-neuropathy-with-acupuncture-and-herbal-medicine-a-case-study
#17
Sunny-Kim Barden
This case study details the treatment of a 59-year-old male with Stage 3B chronic kidney disease (CKD) and chemotherapy-induced peripheral neuropathy of the left limbs using acupuncture and bulk herbs. After 6 weeks of combined acupuncture and herbal treatments, glomerular filtration rate increased significantly from 37 mL/min to 51 mL/min and serum creatinine level decreased from 1.85 mg/dL to 1.41 mg/dL. After a course of 15 acupuncture treatments over 4 months with some appointments in closer proximity, the patient additionally reported increased sensation of his left limbs...
April 2017: Journal of Acupuncture and Meridian Studies
https://www.readbyqxmd.com/read/28469499/a-case-of-statin-associated-autoimmune-myopathy
#18
Alexander J Sweidan, Anthony Leung, Cassandra J Kaiser, Sarah J Strube, Andrei N Dokukin, Stephen Romansky, Sassan Farjami
A 70-year-old previously independent man developed progressive proximal leg weakness resulting in a fall at home suffering traumatic brain injury. He was prescribed a statin medication two years prior, but this was discontinued on admission to the hospital due to concern for statin myopathy. His weakness continued to progress while in acute rehabilitation, along with the development of dysphagia requiring placement of gastrostomy tube and respiratory failure requiring tracheostomy. Corticosteroids and intravenous immunoglobulin were administered without response...
2017: Clinical Medicine Insights. Case Reports
https://www.readbyqxmd.com/read/28447661/the-nonsystemic-vasculitic-neuropathies
#19
REVIEW
Michael P Collins, Robert D Hadden
Nonsystemic vasculitic neuropathy (NSVN) is an under-recognized single-organ vasculitis of peripheral nerves that can only be diagnosed with a nerve biopsy. A Peripheral Nerve Society guideline group published consensus recommendations on the classification, diagnosis and treatment of NSVN in 2010, and new diagnostic criteria for vasculitic neuropathy were developed by the Brighton Collaboration in 2015. In this Review, we provide an update on the classification, diagnosis and treatment of NSVN. NSVN subtypes include Wartenberg migratory sensory neuropathy and postsurgical inflammatory neuropathy...
April 27, 2017: Nature Reviews. Neurology
https://www.readbyqxmd.com/read/28440863/finger-extension-weakness-and-downbeat-nystagmus-motor-neuron-disease-syndrome-a-novel-motor-neuron-disorder
#20
Aline Delva, Nimish Thakore, Erik P Pioro, Koen Poesen, Rachel Saunders-Pullman, Inge A Meijer, Janet C Rucker, John T Kissel, Philip Van Damme
INTRODUCTION: Disturbances of eye movements are infrequently encountered in motor neuron diseases (MNDs) or motor neuropathies, and there is no known syndrome that combines progressive muscle weakness with downbeat nystagmus. METHODS: To describe the core clinical features of a syndrome of MND associated with downbeat nystagmus, clinical features were collected from 6 patients. RESULTS: All patients had slowly progressive muscle weakness and wasting in combination with downbeat nystagmus, which was clinically most obvious in downward and lateral gaze...
April 25, 2017: Muscle & Nerve
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