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Proximal neuropathy

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https://www.readbyqxmd.com/read/28226286/peripheral-nerve-ultrasonography-in-patients-with-transthyretin-amyloidosis
#1
Simon Podnar, Stayko Sarafov, Ivailo Tournev, Gregor Omejec, Janez Zidar
OBJECTIVE: To systematically study peripheral nerve morphology in patients with transthyretin (TTR) amyloidosis and TTR gene mutation carriers using high-resolution ultrasonography (US). METHODS: In this prospective cross-sectional study we took a structured history, performed neurological examination, and measured peripheral nerve cross-sectional areas (CSAs) bilaterally at 28 standard locations using US. Demographic and US findings were compared to controls. RESULTS: Peripheral nerve CSAs were significantly larger in 33 patients with familial amyloid polyneuropathy (FAP) compared to 50 controls, most dramatically at the common entrapment sites (median nerve at the wrist, ulnar nerve at the elbow), and in the proximal nerve segments (median nerve in the upper arm, sciatic nerve in the thigh)...
January 29, 2017: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://www.readbyqxmd.com/read/28214378/calcium-signaling-through-l-type-calcium-channels-role-in-pathophysiology-of-spinal-nociceptive-transmission
#2
REVIEW
Olivier Roca-Lapirot, Houda Radwani, Franck Aby, Frédéric Nagy, Marc Landry Pascal Fossat
L-type voltage-gated calcium channels (VGCCs) are ubiquitous channels in the central nervous system. L-type calcium channels (LTCs) are mostly post-synaptic channels regulating neuronal firing and gene expression. They play a role in important physio-pathological processes such as learning and memory, Parkinson's disease, autism and, as recognized more recently, in the pathophysiology of pain processes. Classically, the fundamental role of these channels in cardiovascular functions has limited the use of classical molecules to treat LTC-dependent disorders...
February 18, 2017: British Journal of Pharmacology
https://www.readbyqxmd.com/read/28213167/the-effect-of-peripheral-neuropathy-on-lower-limb-muscle-strength-in-diabetic-individuals
#3
Jean P Ferreira, Cristina D Sartor, Ângela M O Leal, Isabel C N Sacco, Tatiana O Sato, Ivana L Ribeiro, Alice S Soares, Jonathan E Cunha, Tania F Salvini
BACKGROUND: Skeletal muscle strength is poorly described and understood in diabetic participants with diabetic peripheral neuropathy. This study aimed to investigate the extensor and flexor torque of the knee and ankle during concentric, eccentric, and isometric contractions in men with diabetes mellitus type 2 with and without diabetic peripheral neuropathy. METHODS: Three groups of adult men (n=92), similar in age, body mass index, and testosterone levels, were analyzed: 33 non-diabetic controls, 31 with type 2 diabetes mellitus, and 28 with diabetic peripheral neuropathy...
February 9, 2017: Clinical Biomechanics
https://www.readbyqxmd.com/read/28198531/superficial-brachial-artery-a-possible-cause-for-idiopathic-median-nerve-entrapment-neuropathy
#4
Pilani Nkomozepi, Nkosi Xhakaza, Elaine Swanepoel
Nerve entrapment syndromes occur because of anatomic constraints at specific locations in both upper and lower limbs. Anatomical locations prone to nerve entrapment syndromes include sites where a nerve courses through fibro-osseous or fibromuscular tunnels or penetrates a muscle. The median nerve (MN) can be entrapped by the ligament of Struthers; thickened biceps aponeurosis; between the superficial and deep heads of the pronator teres muscle and by a thickened proximal edge of flexor digitorum superficialis muscle...
February 15, 2017: Folia Morphologica (Warsz)
https://www.readbyqxmd.com/read/28196470/proteasome-impairment-in-neural-cells-derived-from-hmsn-p-patient-ipscs
#5
Nagahisa Murakami, Keiko Imamura, Yuishin Izumi, Naohiro Egawa, Kayoko Tsukita, Takako Enami, Takuya Yamamoto, Toshitaka Kawarai, Ryuji Kaji, Haruhisa Inoue
Hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P) is caused by a heterozygous mutation (P285L) in Tropomyosin-receptor kinase Fused Gene (TFG), histopathologically characterized by progressive spinal motor neuron loss with TFG cytosolic aggregates. Although the TFG protein, found as a type of fusion oncoprotein, is known to facilitate vesicle transport from endoplasmic reticulum (ER) to Golgi apparatus at ER exit site, it is unclear how mutant TFG causes motor neuron degeneration...
February 15, 2017: Molecular Brain
https://www.readbyqxmd.com/read/28190646/vocal-cord-paralysis-in-charcot-marie-tooth-type-4b1-disease-associated-with-a-novel-mutation-in-the-myotubularin-related-protein-2-gene-a-case-report-and-review-of-the-literature
#6
Alberto Andrea Zambon, Maria Grazia Natali Sora, Giovanna Cantarella, Federica Cerri, Angelo Quattrini, Giancarlo Comi, Stefano Carlo Previtali, Alessandra Bolino
Charcot-Marie-Tooth type 4B1 (CMT4B1) is an autosomal recessive motor and sensory demyelinating neuropathy characterized by the association of early-onset neurological symptoms and typical histological findings. The natural history and the clinical variability of the disease are still poorly known, thus further clarification of the different phenotypes is needed. We report on the case of a Pakistani girl born to consanguineous parents harboring a novel mutation in the MTMR2 gene. When aged 18 months, reduced limb tone, muscle wasting associated with proximal and distal weakness prevalent in lower limbs, absence of tendon reflexes, hoarseness and inspiratory stridor were detected...
January 16, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28188346/-clinical-indications-for-high-resolution-mri-diagnostics-of-the-peripheral-nervous-system
#7
T Godel, M Weiler
CLINICAL/METHODICAL ISSUE: Peripheral neuropathies are common and diagnostically often challenging disorders. Difficulties particularly exist in lesion localization and recognition of complex spatial lesion patterns. STANDARD DIAGNOSTIC METHODS: Medical history taking, neurological examination, neurophysiological tests and nerve ultrasonography represent the gold standard in the diagnosis of peripheral nerve lesions but have known methodical limitations. METHODICAL INNOVATIONS: The use of 3 Tesla magnetic resonance neurography (MRN) is an additional diagnostic imaging tool recently developed for the high-resolution visualization of long segments of peripheral nerves...
February 10, 2017: Der Radiologe
https://www.readbyqxmd.com/read/28169005/nelarabine-associated-reversible-guillain-barr%C3%A3-like-syndrome-or-myelopathy-in-an-adult-patient-with-primary-refractory-t-lymphoblastic-lymphoma
#8
Chrysavgi Lalayanni, Eirini Baldoumi, Sotiris Papayiannopoulos, Konstantia Tziola, Riad Saloum, Achilles Anagnostopoulos
Nelarabine is a purine analogue used for the treatment of patients with relapsed or refractory T-cell acute lymphoblastic leukemia and T-cell lymphoblastic lymphoma mainly as a bridge to stem cell transplantation. The water-soluble prodrug of 9-beta-D-arabinofuranosyl guanine (Ara-G) is phosphorylated within leukemic cells to form ara-G triphosphate (ara-GTP), which terminates DNA chain elongation, resulting in cell death. The drug received accelerated approval by the US Food and Drug Administration (FDA) on October 2005 based on the induction of complete remissions in 2 phase II trials...
November 17, 2016: Current Problems in Cancer
https://www.readbyqxmd.com/read/28144995/axonal-neuropathies-due-to-mutations-in-small-heat-shock-proteins-clinical-genetic-and-functional-insights-into-novel-mutations
#9
Andoni Echaniz-Laguna, Thomas Geuens, Philippe Petiot, Yann Péréon, Elias Adriaenssens, Mansour Haidar, Simona Capponi, Thierry Maisonobe, Emmanuel Fournier, Odile Dubourg, Bertrand Degos, François Salachas, Timothée Lenglet, Bruno Eymard, Emilien Delmont, Jean Pouget, Raoul Morales, Cyril Goizet, Philippe Latour, Vincent Timmerman, Tanya Stojkovic
In this study, we describe the phenotypic spectrum of distal hereditary motor neuropathy caused by mutations in the small heat shock proteins HSPB1 and HSPB8 and investigate the functional consequences of newly discovered variants. Among 510 unrelated patients with distal motor neuropathy, we identified mutations in HSPB1 (28 index patients/510; 5.5%) and HSPB8 (4 index patients/510; 0.8%) genes. Patients have slowly progressive distal (100%) and proximal (13%) weakness in lower limbs (100%), mild lower limbs sensory involvement (31%), foot deformities (73%), progressive distal upper limb weakness (29%), mildly raised serum creatine kinase levels (100%) and central nervous system involvement (9%)...
February 1, 2017: Human Mutation
https://www.readbyqxmd.com/read/28112483/ultrasound-guided-diagnosis-and-injection-of-the-lateral-femoral-cutaneous-nerve-with-an-anatomical-variation
#10
D Palamar, R Terlemez, K Akgun
Meralgia paresthetica (MP) is an entrapment neuropathy of the lateral femoral cutaneous nerve (LFCN). There are many variations in the course of the LFCN. A 55-year-old woman presented with pain and tingling sensations on the anterolateral aspect of her left thigh. Physical examination revealed hypoesthesia of the proximal anterolateral thigh on the left side. During the electrodiagnostic study, sensory nerve action potential of the LFCN could not be obtained on both sides. Through those clinical and electrophysiological findings, we prediagnosed the case as MP and planned to perform diagnostic nerve block...
January 23, 2017: Pain Practice: the Official Journal of World Institute of Pain
https://www.readbyqxmd.com/read/28110471/depletion-of-mitofusin-2-causes-mitochondrial-damage-in-cisplatin-induced-neuropathy
#11
Ilja Bobylev, Abhijeet R Joshi, Mohammed Barham, Wolfram F Neiss, Helmar C Lehmann
Sensory neuropathy is a relevant side effect of the antineoplastic agent cisplatin. Mitochondrial damage is assumed to play a critical role in cisplatin-induced peripheral neuropathy, but the pathomechanisms underlying cisplatin-induced mitotoxicity and neurodegeneration are incompletely understood. In an animal model of cisplatin-induced neuropathy, we determined in detail the extent and spatial distribution of mitochondrial damage during cisplatin treatment. Changes in the total number of axonal mitochondria during cisplatin treatment were assessed in intercostal nerves from transgenic mice that express cyan fluorescent protein...
January 21, 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/28089525/radiotherapeutic-management-of-vestibular-schwannomas-using-size-and-location-adapted-fractionation-regimens-to-maximize-the-therapeutic-ratio
#12
Benjamin G Slane, Uma Goyal, Joel L Grow, Christopher Morrison, Craig R Hullet, John Gordon, Abhay Sanan, Baldassarre Stea
BACKGROUND: We evaluated and compared the radiographic and clinical outcomes of patients with vestibular schwannomas treated with single fraction stereotactic radiosurgery (SRS), 5 fractions of hypofractionated stereotactic radiation therapy (hSRT), or 25 to 30 fractions of conventionally fractionated stereotactic radiation therapy (cfSRT). METHODS AND MATERIALS: Fifty-six patients treated with LINAC-based SRS (median, 12.5 Gy), hSRT (25 Gy), or cfSRT (median, 54 Gy) were retrospectively reviewed...
October 28, 2016: Practical Radiation Oncology
https://www.readbyqxmd.com/read/28074668/in-vivo-evidence-of-nephrotoxicity-and-altered-hepatic-function-in-rats-following-administration-of-diglycolic-acid-a-metabolite-of-diethylene-glycol
#13
Corie N Robinson, Brian Latimer, Fleurette Abreo, Kiera Broussard, Kenneth E McMartin
CONTEXT: Diglycolic acid (DGA) is one of the two primary metabolites of diethylene glycol (DEG). DEG is an industrial solvent that has been implicated in mass poisonings resulting from product misuse in the United States and worldwide, with the hallmark toxicity being acute kidney injury, hepatotoxicity, encephalopathy and peripheral neuropathy. Our laboratory has generated in-vitro evidence suggesting that DGA is the metabolite responsible for the proximal tubule necrosis and decreased kidney function observed following DEG ingestion...
March 2017: Clinical Toxicology
https://www.readbyqxmd.com/read/28073787/col6a5-variants-in-familial-neuropathic-chronic-itch
#14
Filippo Martinelli-Boneschi, Marina Colombi, Marco Castori, Grazia Devigili, Roberto Eleopra, Rayaz A Malik, Marco Ritelli, Nicoletta Zoppi, Chiara Dordoni, Melissa Sorosina, Paola Grammatico, Hassan Fadavi, Monique M Gerrits, Rowida Almomani, Catharina G Faber, Ingemar S J Merkies, Daniela Toniolo, Massimiliano Cocca, Claudio Doglioni, Stephen G Waxman, Sulayman D Dib-Hajj, Michela M Taiana, Jenny Sassone, Raffaella Lombardi, Daniele Cazzato, Andrea Zauli, Silvia Santoro, Margherita Marchi, Giuseppe Lauria
Itch is thought to represent the peculiar response to stimuli conveyed by somatosensory pathways shared with pain through the activation of specific neurons and receptors. It can occur in association with dermatological, systemic and neurological diseases, or be the side effect of certain drugs. However, some patients suffer from chronic idiopathic itch that is frequently ascribed to psychological distress and for which no biomarker is available to date. We investigated three multigenerational families, one of which diagnosed with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type (JHS/EDS-HT), characterized by idiopathic chronic itch with predominantly proximal distribution...
January 9, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28050354/a-case-report-on-unilateral-accessory-humeral-head-of-pronator-teres
#15
Suman Verma, Sulochana Sakthivel
The presence of an accessory muscle in the forearm is likely to compress on the neurovascular structures and has clinical implications. We encountered an accessory humeral head of pronator teres during routine dissection of left upper limb in a male cadaver. The accessory head had fleshy origin from medial supracondylar line, medial intermuscular septum and brachialis fascia. It coursed downwards in the cubital region covering brachial artery and median nerve. Further, it narrowed becoming mostly tendinous and joined with the humeral head of pronator teres...
November 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28000223/western-diet-induces-colonic-nitrergic-myenteric-neuropathy-and-dysmotility-in-mice-via-saturated-fatty-acid-and-lipopolysaccharide-induced-tlr4-signalling
#16
François Reichardt, Benoit Chassaing, Behtash Ghazi Nezami, Ge Li, Sahar Tabatabavakili, Simon Mwangi, Karan Uppal, Bill Liang, Matam Vijay-Kumar, Dean Jones, Andrew T Gewirtz, Shanthi Srinivasan
KEY POINTS: A high-fat diet (60% kcal from fat) is associated with motility disorders inducing constipation and loss of nitrergic myenteric neurons in the proximal colon. Gut microbiota dysbiosis, which occurs in response to HFD, contributes to endotoxaemia. High levels of lipopolysaccharide lead to apoptosis in cultured myenteric neurons that express Toll-like receptor 4 (TLR4). Consumption of a Western diet (WD) (35% kcal from fat) for 6 weeks leads to gut microbiota dysbiosis associated with altered bacterial metabolites and increased levels of plasma free fatty acids...
December 20, 2016: Journal of Physiology
https://www.readbyqxmd.com/read/27981288/schwannoma-of-the-median-nerve-mimicking-carpal-tunnel-syndrome-in-a-pregnant-patient-case-report
#17
Giokits-Kakavouli Giasna, Mihaela C Micu, Romeo Micu
In patients with symptoms of a peripheral neuropathy especially during pregnancy, use of imaging techniques such as Ultrasound (US) and Magnetic Resonance Imaging (MRI) may be essential for the diagnostic accomplishment. A 30-weekspregnant diabetic female attending US evaluation due to intermittent hand pain, numbness, and weakness bilaterally. Although, the US evaluation revealed the median nerve (MN) normal size, echogenicity and echo-texture within the right carpal tunnel; the US assessment applied proximally to the carpal tunnel, revealed a hypoechoic tumor-like mass and increased MN cross section area...
December 5, 2016: Medical Ultrasonography
https://www.readbyqxmd.com/read/27951607/-chronic-inflammatory-demyelinating-polyneuropathy
#18
M Balke, G Wunderlich, A Brunn, G R Fink, H C Lehmann
Chronic inflammatory demyelinating polyneuropathy (CIDP) is a chronic progressive or relapsing autoimmune neuropathy with heterogeneous clinical presentation. Symptoms typically include symmetrical, proximal and/or distal paresis and sensory loss. Atypical CIDP variants are increasingly recognized, including subtypes with rapid onset as well as variants with pure sensory, focal or marked asymmetrical deficits. Diagnosis is established by compatible symptoms, characteristic electrophysiological features and cerebrospinal fluid analysis...
December 2016: Fortschritte der Neurologie-Psychiatrie
https://www.readbyqxmd.com/read/27943583/human-dental-pulp-stem-cells-expressing-stro-1-c-kit-and-cd34-markers-in-peripheral-nerve-regeneration
#19
Gianluca Carnevale, Alessandra Pisciotta, Massimo Riccio, Laura Bertoni, Sara De Biasi, Lara Gibellini, Alessio Zordani, Gian Maria Cavallini, Giovanni Battista La Sala, Giacomo Bruzzesi, Adriano Ferrari, Andrea Cossarizza, Anto de Pol
Peripheral nerve injuries are a commonly encountered clinical problem and often result in long-term functional defects. The application of stem cells able to differentiate in Schwann cells-like cells in vitro and in vivo, could represent an attractive therapeutic approach for the treatment of nerve injuries. Further, stem cells sources sharing the same embryological origin of Schwann cells might be considered a suitable tool. The aim of this study was to demonstrate the ability of a neuroectodermal subpopulation of human STRO-1+/c-Kit+/CD34+ DPSCs, expressing P75(NTR) , Nestin and SOX-10, to differentiate into Schwann cells-like cells in vitro and to promote axonal regeneration in vivo, which led to functional recovery as measured by sustained gait improvement, in animal rat model of peripheral nerve injury...
December 11, 2016: Journal of Tissue Engineering and Regenerative Medicine
https://www.readbyqxmd.com/read/27927940/diagnostic-value-of-sonography-in-treatment-naive-chronic-inflammatory-neuropathies
#20
H Stephan Goedee, W Ludo van der Pol, Jan-Thies H van Asseldonk, Hessel Franssen, Nicolette C Notermans, Alexander J F E Vrancken, Michael A van Es, Stavros Nikolakopoulos, Leo H Visser, Leonard H van den Berg
OBJECTIVE: To determine the diagnostic value of high-resolution ultrasound (HRUS) for detection of chronic inflammatory demyelinating polyneuropathy (CIDP), Lewis-Sumner syndrome (LSS), and multifocal motor neuropathy (MMN). METHODS: Between January 2013 and January 2015, we enrolled 75 consecutive treatment-naive patients with chronic inflammatory neuropathies and 70 disease controls. We performed extensive nerve conduction and standardized HRUS studies bilaterally of large arm and leg nerves and brachial plexus...
January 10, 2017: Neurology
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