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Proximal neuropathy

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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
#1
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
#2
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
#3
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
#4
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...
May 9, 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
#5
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
#6
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
#7
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/fewdon-mnd-syndrome-finger-extension-weakness-and-downbeat-nystagmus-a-novel-motor-neuron-disorder
#8
Aline Delva, Nimish Thakore, Erik 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 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 motor neuron disease 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
https://www.readbyqxmd.com/read/28434507/motor-neuropathies-and-lower-motor-neuron-syndromes
#9
REVIEW
A Verschueren
Motor or motor-predominant neuropathies may arise from disease processes affecting the motor axon and/or its surrounding myelin. Lower motor neuron syndrome (LMNS) arises from a disease process affecting the spinal motor neuron itself. The term LMNS is more generally used, rather than motor neuronopathy, although both entities are clinically similar. Common features are muscle weakness (distal or proximal) with atrophy and hyporeflexia, but no sensory involvement. They can be acquired or hereditary. Immune-mediated neuropathies (multifocal motor neuropathy, motor-predominant chronic inflammatory demyelinating polyneuropathy) are important to identify, as effective treatments are available...
April 20, 2017: Revue Neurologique
https://www.readbyqxmd.com/read/28432188/magnetic-resonance-neurography-visualizes-abnormalities-in-sciatic-and-tibial-nerves-in-patients-with-type-1-diabetes-and-neuropathy
#10
Michael Vaeggemose, Mirko Pham, Steffen Ringgaard, Hatice Tankisi, Niels Ejskjaer, Sabine Heiland, Per L Poulsen, Henning Andersen
This study evaluates whether diffusion-tensor-imaging MR-Neurography (DTI-MRN), T2-relaxation-time and proton-spin-density can detect and grade neuropathic abnormalities in patients with type 1 diabetes.Forty-nine patients with type 1 diabetes (11 with severe polyneuropathy (sDPN), 13 with mild polyneuropathy (mDPN) and 25 without polyneuropathy (nDPN)) and 30 healthy controls (HC) were included. Clinical examinations, nerve-conduction-studies and vibratory-perception-thresholds determined the presence and severity of DPN...
April 21, 2017: Diabetes
https://www.readbyqxmd.com/read/28428919/tibial-bone-grafting-for-wrist-reconstruction
#11
Schneider K Rancy, Stephanie D Malliaris, Scott W Wolfe
Background Iliac crest bone graft harvesting is routinely performed for upper extremity orthopedic procedures despite high complication rates associated with sensory nerve injury, hematoma, chronic pain, and fracture. Description of Technique Cancellous bone graft is harvested from the proximal tibia using a medial approach, minimizing donor site morbidity. Patients and Methods A retrospective review was undertaken of 14 patients who underwent cancellous proximal tibia bone graft harvesting to augment healing of wrist reconstruction, with 2 months minimum follow-up...
May 2017: Journal of Wrist Surgery
https://www.readbyqxmd.com/read/28397860/whole-exome-sequencing-of-congenital-glaucoma-patients-reveals-hypermorphic-variants-in-gpatch3-a-new-gene-involved-in-ocular-and-craniofacial-development
#12
Jesús-José Ferre-Fernández, José-Daniel Aroca-Aguilar, Cristina Medina-Trillo, Juan-Manuel Bonet-Fernández, Carmen-Dora Méndez-Hernández, Laura Morales-Fernández, Marta Corton, María-José Cabañero-Valera, Marta Gut, Raul Tonda, Carmen Ayuso, Miguel Coca-Prados, Julián García-Feijoo, Julio Escribano
Congenital glaucoma (CG) is a heterogeneous, inherited and severe optical neuropathy that originates from maldevelopment of the anterior segment of the eye. To identify new disease genes, we performed whole-exome sequencing of 26 unrelated CG patients. In one patient we identified two rare, recessive and hypermorphic coding variants in GPATCH3, a gene of unidentified function, and 5% of a second group of 170 unrelated CG patients carried rare variants in this gene. The recombinant GPATCH3 protein activated in vitro the proximal promoter of CXCR4, a gene involved in embryo neural crest cell migration...
April 11, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28389774/takayasu-arteritis-presenting-as-isolated-anterior-ischemic-optic-neuropathy
#13
Guohong Tian, Qian Chen, Wenji Wang
Takayasu arteritis (TA) is a systemic vasculitis of unknown etiology that affects the aorta and its primary branches or large arteries in the proximal upper or lower extremities. Ocular manifestations of TA include microaneurysm formation, small-vessel dilation, arteriovenous anastomosis, retinal ischemia, and neovascular glaucoma. We herein report a case involving a 23-year-old Asian woman who presented with isolated acute anterior ischemic optic neuropathy and was initially misdiagnosed with optic neuritis...
April 7, 2017: International Ophthalmology
https://www.readbyqxmd.com/read/28389398/-numb-leg-in-a-crossfit-athlete-a-case-presentation
#14
Stephan Esser, Mckennan Thurston, Krishna Nalluri, Aurelio Muzaurieta
Participation in CrossFit athletics and Olympic-style lifting by the general populace has rapidly increased in the last 10 years. Such athletic engagement poses unique, inadequately defined risks to the participant. We describe the case of a 36-year-old man who presented to an outpatient sports medicine clinic with 6 weeks of numbness and tingling in the lateral right proximal thigh. After thorough examination and electromyographic testing, he was found to have a lateral femoral cutaneous neuropathy caused by performing supine gluteal bridges with a weighted barbell resting across his anterior thighs...
April 5, 2017: PM & R: the Journal of Injury, Function, and Rehabilitation
https://www.readbyqxmd.com/read/28388973/why-do-inguinal-hernia-patients-have-pain-histology-points-to-compression-neuropathy
#15
Robert Wright, Donald E Born, Natasha D'Souza, Larissa Hurd, Rachel Gill, Daniel Wright
PURPOSE: The purpose of this study is to describe the known soft tissue neuro-histology factors associated with compression neuropathy in relation to the incidence of preoperative pain in primary inguinal hernia. Enlargement of the ilioinguinal nerve occurs in 63% of patients with primary inguinal hernia; compression neuropathy has similar gross features. METHODS: Patients completed pain questionnaires pertaining to preoperative pain and the quality of pain experienced...
March 22, 2017: American Journal of Surgery
https://www.readbyqxmd.com/read/28364294/intermediate-charcot-marie-tooth-disease-an-electrophysiological-reappraisal-and-systematic-review
#16
REVIEW
José Berciano, Antonio García, Elena Gallardo, Kristien Peeters, Ana L Pelayo-Negro, Silvia Álvarez-Paradelo, José Gazulla, Miriam Martínez-Tames, Jon Infante, Albena Jordanova
Charcot-Marie-Tooth disease (CMT) is the most frequent form of inherited neuropathy with great variety of phenotypes, inheritance patterns, and causative genes. According to median motor nerve conduction velocity (MNCV), CMT is divided into demyelinating (CMT1) with MNCV below 38 m/s, axonal (CMT2) with MNCV above 38 m/s, and intermediate CMT with MNCV between 25 and 45 m/s. In each category, transmission may be autosomal dominant, autosomal recessive, or X-linked. The nosology of intermediate CMT is controversial because of concerns about electrophysiological delimitation...
March 31, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28345147/nerve-conduction-velocity-and-cross-sectional-area-in-ulnar-neuropathy-at-the-elbow
#17
Simon Podnar, Gregor Omejec, Marko Bodor
INTRODUCTION: In the precise localization of ulnar neuropathy at the elbow (UNE) we have noted discrepancies between electrodiagnostic (EDx) and ultrasonographic (US) findings. We aimed to explore the relationship between the 2 methods. METHODS: Four study-blind examiners took a history and performed neurologic, EDx, and US examinations of a group of prospectively recruited patients with UNE. They assessed the relationship between ulnar nerve cross-sectional area (CSA) and motor nerve conduction velocity (MNCV)...
March 27, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28341088/the-latest-treatment-strategy-for-the-rheumatoid-hand-deformity
#18
Hajime Ishikawa
With a remarkable improvement in the pharmacotherapy of rheumatoid arthritis (RA), severely handicapped patients are very rare to see. Healing, repair and drug-free, and toward radical cure are coming to be possible. In the clinical practice, more than 50% of the patients are in remission. However, some patients are still difficult to reach remission due to comorbidities and economic burden. In the patient with clinical remission, smoldering synovitis so called "silent destructor" is often detected by ultrasonograpy or by synovial histology in the small joints of the hand...
March 22, 2017: Journal of Orthopaedic Science: Official Journal of the Japanese Orthopaedic Association
https://www.readbyqxmd.com/read/28328138/homozygous-mutation-in-ptrh2-gene-causes-progressive-sensorineural-deafness-and-peripheral-neuropathy
#19
Rajech Sharkia, Stavit A Shalev, Abdelnaser Zalan, Milit Marom-David, Nathan Watemberg, Jill E Urquhart, Sarah B Daly, Sanjeev S Bhaskar, Simon G Williams, William G Newman, Ronen Spiegel, Abdussalam Azem, Orly Elpeleg, Muhammad Mahajnah
PTRH2 is an evolutionarily highly conserved mitochondrial protein that belongs to a family of peptidyl-tRNA hydrolases. Recently, patients from two consanguineous families with mutations in the PTRH2 gene were reported. Global developmental delay associated with microcephaly, growth retardation, progressive ataxia, distal muscle weakness with ankle contractures, demyelinating sensorimotor neuropathy, and sensorineural hearing loss were present in all patients, while facial dysmorphism with widely spaced eyes, exotropia, thin upper lip, proximally placed thumbs, and deformities of the fingers and toes were present in some individuals...
April 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28319875/electrophysiologic-features-of-ulnar-neuropathy-in-childhood-and-adolescence
#20
Ioannis Karakis, Wendy Liew, Heather Szelag Fournier, H Royden Jones, Basil T Darras, Peter B Kang
OBJECTIVE: To analyze patterns of nerve injury in pediatric ulnar neuropathy (PUN). METHODS: Retrospective analysis of 49 children with PUN. RESULTS: Sensory loss in digit V was the prevailing complaint (89%). Predominant localization was at the elbow (55%). Diminished ulnar SNAP was the most common abnormality (71%) with median axon loss estimate (MAXE) of 62%. Dorsal ulnar cutaneous (DUC) sensory nerve action potential (SNAP) was reduced in 55% with MAXE of 43%...
May 2017: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
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