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https://www.readbyqxmd.com/read/28077491/sphingosine-1-phosphate-lyase-deficiency-causes-charcot-marie-tooth-neuropathy
#1
Derek Atkinson, Jelena Nikodinovic Glumac, Bob Asselbergh, Biljana Ermanoska, David Blocquel, Regula Steiner, Alejandro Estrada-Cuzcano, Kristien Peeters, Tinne Ooms, Els De Vriendt, Xiang-Lei Yang, Thorsten Hornemann, Vedrana Milic Rasic, Albena Jordanova
OBJECTIVE: To identify the unknown genetic cause in a nuclear family with an axonal form of peripheral neuropathy and atypical disease course. METHODS: Detailed neurologic, electrophysiologic, and neuropathologic examinations of the patients were performed. Whole exome sequencing of both affected individuals was done. The effect of the identified sequence variations was investigated at cDNA and protein level in patient-derived lymphoblasts. The plasma sphingoid base profile was analyzed...
January 11, 2017: Neurology
https://www.readbyqxmd.com/read/28035909/comparison-of-the-efficacy-of-lidocaine-and-betamethasone-dipropionate-in-carpal-tunnel-syndrome-injection
#2
Bahar Dernek, Tugba Aydin, Pinar Kursuz Koseoglu, Fatma Nur Kesiktas, Tugba Yesilyurt, Demirhan Diracoglu, Cihan Aksoy
BACKGROUND: Carpal tunnel syndrome (CTS) is a commonly seen peripheral nerve mononeuropathy. Corticosteroid injection within the carpal tunnel is among the conservative treatment options. The exact mechanism of action of steroids is not fully clear; decreased inflammation surrounding nerves or tendons is thought to be the main effect. Lidocaine has been shown to have anti-inflammatory effects on certain cells (monocytes, macrophages, neutrophils etc.). The aim of this study is to evaulate the efficacy of lidocaine treatment as a alternative to corticosteroid treatment in carpal tunnel syndrome...
December 23, 2016: Journal of Back and Musculoskeletal Rehabilitation
https://www.readbyqxmd.com/read/27957617/neuromyotonia-as-an-unusual-neurological-complication-of-primary-sj%C3%A3-gren-s-syndrome-case-report-and-literature-review
#3
REVIEW
Fei Xiao
Primary Sjögren's syndrome (PSS) is a systemic autoimmune disorder characterized by chronic inflammation of exocrine glands such as the lachrymal and salivary glands, leading to xerophthalmia and xerostomia. Neurological manifestations are sometimes found in patients with PSS. A variety of neurological complications has been reported in patients with PSS, and both the central nervous system (CNS) and peripheral nervous system (PNS) can be involved in PSS. Several forms of neuropathy, including polyneuropathy, cranial neuropathy, and multiple mononeuropathy, are often seen in PSS patients...
December 12, 2016: Clinical Rheumatology
https://www.readbyqxmd.com/read/27885483/neuroborreliosis
#4
John J Halperin
Appropriate, critical application of evidence-based diagnostic criteria enables both a clear definition of what constitutes neuroborreliosis-nervous system infection with Borrelia burgdorferi sensu stricto in the US, B garinii and less commonly B. afzelii and other species in Europe-and recognition that this disorder is quite similar in Europe and the US. Most commonly evidenced by lymphocytic meningitis and/or multifocal inflammation of the peripheral (common; cranial neuropathy, radiculopathy, mononeuropathy multiplex) or central (rare) nervous system, it is readily diagnosed and highly antibiotic responsive...
November 24, 2016: Journal of Neurology
https://www.readbyqxmd.com/read/27843673/median-and-ulnar-neuropathy-assessment-in-parkinson-s-disease-regarding-symptom-severity-and-asymmetry
#5
Nilgul Yardimci, Ozlem Cemeroglu, Eda Ozturk, Gülsüm Gürlü, Esra Şahin, Saliha Bozkurt, Tugba Cengiz, Gulderen Karali, Hasim Cakirbay, Atilla İlhan
Background. While increasing evidence suggests comorbidity of peripheral neuropathy (PNP) and Parkinson's disease (PD), the pathogenesis of PNP in PD is still a debate. The aim of this article is to search the core PD symptoms such as rigidity and tremor as contributing factors to mononeuropathy development while emphasizing each individual patient's asymmetric symptom severity. Methods. We studied 62 wrists and 62 elbows of 31 patients (mean age 66.48 ± 10.67) and 64 wrists and 64 elbows of 32 age-gender matched healthy controls (mean age 62...
2016: Parkinson's Disease
https://www.readbyqxmd.com/read/27834472/diagnosis-and-treatment-of-pain-in-plexopathy-radiculopathy-peripheral-neuropathy-and-phantom-limb-pain-evidence-and-recommendations-from-the-italian-consensus-conference-on-pain-on-neurorehabilitation
#6
Francesco Ferraro, Marco Jacopetti, Vincenza Spallone, Luca Padua, Marco Traballesi, Stefano Brunelli, Cristina Cantarella, Cristina Ciotti, Daniele Coraci, Elena Dalla Toffola, Silvia Mandrini, Giovanni Morone, Costanza Pazzaglia, Marcello Romano, Angelo Schenone, Rossella Togni, Stefano Tamburin
Pain may affect all aspects of social life and reduce the quality of life. Neuropathic pain (NP) is common in patients affected by plexopathy, radiculopathy, mononeuropathy, peripheral neuropathy. Phantom limb pain (PLP) is a painful sensation that is common after amputation, and its pathophysiological mechanisms involve changes in the peripheral and central nervous system. Given the lack of conclusive evidence and specific guidelines on these topics, the aim of the Italian Consensus Conference on Pain on Neurorehabilitation (ICCPN) was to collect evidence and offer recommendations to answer currently open questions on the assessment and treatment of NP associated with the above conditions and PLP...
December 2016: European Journal of Physical and Rehabilitation Medicine
https://www.readbyqxmd.com/read/27824488/pins-and-needles-from-fingers-to-toes-high-resolution-mri-of-peripheral-sensory-mononeuropathies
#7
Swati Deshmukh, John A Carrino, Joseph H Feinberg, Scott W Wolfe, Sonja Eagle, Darryl B Sneag
OBJECTIVE: The purpose of this article is to review advanced MRI techniques and describe the MRI findings of pure sensory mononeuropathy with relevant clinical and anatomic correlation. CONCLUSION: Peripheral sensory mononeuropathy can be challenging to evaluate with MRI because of the small caliber of pure sensory nerves and the lack of changes in secondary muscular denervation. Advances in MRI afford the necessary signal-intensity contrast and resolution for adequate evaluation of many of these small peripheral nerves...
January 2017: AJR. American Journal of Roentgenology
https://www.readbyqxmd.com/read/27752369/meralgia-paresthetica-after-prone-positioning-ventilation-in-the-intensive-care-unit
#8
Christian Svendsen Juhl, Martin Ballegaard, Morten H Bestle, Peer Tfelt-Hansen
Meralgia paresthetica (MP) is a mononeuropathy of the lateral femoral cutaneous nerve (LFCN) caused by external compression of the nerve during its course close to the anterior superior iliac spine. We present a case of a patient with acute respiratory distress induced by Legionella pneumonia who was admitted to the intensive care unit (ICU) for mechanical ventilation. In the ICU, the patient received one session of prone position ventilation for 8.5 consecutive hours. At evaluation six months later, the patient reported persistent bilateral numbness of the anterolateral thigh, which he complained had begun right after he woke up at the ICU...
2016: Case Reports in Critical Care
https://www.readbyqxmd.com/read/27714773/histamine-h4-receptor-agonist-induced-relief-from-painful-peripheral-neuropathy-is-mediated-by-inhibition-of-spinal-neuroinflammation-and-oxidative-stress
#9
Maria Domenica Sanna, Laura Lucarini, Mariaconcetta Durante, Carla Ghelardini, Emanuela Masini, Nicoletta Galeotti
BACKGROUND AND PURPOSE: Neuropathic pain is under-treated, with a detrimental effect on quality of life, partly because of low treatment efficacy, but also because pathophysiological mechanisms are not fully elucidated. To clarify the pathobiology of neuropathic pain, we studied the contribution of neuroinflammation and oxidative stress in a model of peripheral neuropathy. We also assessed an innovative treatment for neuropathic pain by investigating the effects of histamine H4 receptor ligands in this model...
January 2017: British Journal of Pharmacology
https://www.readbyqxmd.com/read/27672865/poster-96-medial-pectoral-nerve-mononeuropathy-a-case-report
#10
Anupam Sinha, Sunny Gupta, Mitesh Patel
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
#11
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/27643973/carpal-tunnel-syndrome-in-sarcoidosis-a-case-report-of-a-rare-neurologic-manifestation
#12
Ajinkya Sonambekar, Nikhil Gupta, Akanksha Swadi, Laxmikant Ramkumarsingh Tomar
INTRODUCTION: Sarcoidosis is a multisystemic inflammatory disease with myriad clinical manifestations. Neurologic involvement in sarcoidosis is uncommon. Peripheral neuropathic presentations include mononeuropathy, mononeuritis multiplex, and generalized sensory, motor, autonomic, and sensorimotor polyneuropathies. CASE PRESENTATION: We report a case of carpal tunnel syndrome caused by sarcoidosis in a 30-year-old woman. Other causes of carpal tunnel syndrome were ruled out...
2016: Permanente Journal
https://www.readbyqxmd.com/read/27637963/peripheral-neuropathies
#13
R Hanewinckel, M A Ikram, P A Van Doorn
Peripheral neuropathies are diseases of the peripheral nervous system that can be divided into mononeuropathies, multifocal neuropathies, and polyneuropathies. Symptoms usually include numbness and paresthesia. These symptoms are often accompanied by weakness and can be painful. Polyneuropathies can be divided into axonal and demyelinating forms, which is important for diagnostic reasons. Most peripheral neuropathies develop over months or years, but some are rapidly progressive. Some patients only suffer from mild, unilateral, slowly progressive tingling in the fingers due to median nerve compression in the wrist (carpal tunnel syndrome), while other patients can be tetraplegic, with respiratory insufficiency within 1-2 days due to Guillain-Barré syndrome...
2016: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/27629974/acute-motor-dominant-polyneuropathy-as-guillain-barr%C3%A3-syndrome-and-multiple-mononeuropathies-in-a-patient-with-sj%C3%A3-gren-s-syndrome
#14
Kenichiro Tanaka, Hiroyuki Nakayasu, Yutaka Suto, Shotaro Takahashi, Yoshihiro Konishi, Hirotake Nishimura, Rino Ueno, Susumu Kusunoki, Kenji Nakashima
A patient with xerostomia and xerophthalmia due to Sjögren's syndrome presented with acute motor-dominant polyneuropathy and multiple mononeuropathy with antiganglioside antibodies. Nerve conduction studies and a sural nerve biopsy revealed the neuropathy as a mixture of segmental demyelination and axonal degeneration. Positive results were obtained for several antiganglioside antibodies. Corticosteroid treatment proved effective. The neuropathy was considered to represent a mixture of polyneuropathy as Guillain-Barré syndrome and multiple mononeuropathy via Sjögren's syndrome...
2016: Internal Medicine
https://www.readbyqxmd.com/read/27606281/progressive-bilateral-facial-palsy-as-a-manifestation-of-granulomatosis-with-polyangiitis-a-case-report
#15
Sang Mee Jeong, Joo Hyun Park, Jong In Lee, Kyung Eun Nam, Jung Soo Lee, Joo Hee Kim
Bilateral facial palsy, which is usually combined with other diseases, occurs infrequently. It may imply a life-threatening condition. Therefore, the differential diagnosis of bilateral facial palsy is important. However, the etiology is variable, which makes diagnosis challenging. We report a rare case of progressive bilateral facial palsy as a manifestation of granulomatosis with polyangiitis (GPA). A 40-year-old male with otitis media and right facial palsy was referred for electroneurography (ENoG), which showed a 7...
August 2016: Annals of Rehabilitation Medicine
https://www.readbyqxmd.com/read/27593718/intraneural-ganglion-cyst-of-the-ulnar-nerve-at-the-elbow-masquerading-as-a-malignant-peripheral-nerve-sheath-tumor
#16
Ralph J Mobbs, Kevin Phan, Monish M Maharaj, Joga Chaganti, Neil Simon
BACKGROUND: Ulnar neuropathy at the elbow (UNE) is the second most common mononeuropathy of the upper extremity. One rare cause of UNE is nerve mass lesions, including intraneural ganglion cysts (IGCs). IGC imaging studies provide important information that may determine the nature of a peripheral nerve mass lesion. CASE DESCRIPTION: We present the case of a 73-year-old woman who presented with rapid deterioration of left hand function over 2 months with weakness of fine motor control, grip strength, and dysesthesia in the ulnar nerve distribution...
September 1, 2016: World Neurosurgery
https://www.readbyqxmd.com/read/27555210/interventional-and-multimodal-pain-rehabilitation-in-a-child-with-meralgia-paresthetica
#17
Andrew D Franklin, G Bennett Cierny, Twila R Luckett
Meralgia paresthetica is a chronic pain syndrome that is extremely rare in the pediatric population. It is manifested by hypesthesia or pain in the distribution of the lateral femoral cutaneous nerve (LFCN) and is typically caused by entrapment as the nerve passes deep to the inguinal ligament. This sensory mononeuropathy is rare in children and diagnosis is typically delayed, often leading to prolonged functional impairment and unnecessary medical testing. A 9-year-old girl presented to the pain clinic with a 6-week history of right anterolateral thigh pain first noticed after a nontraumatic cheerleading practice...
September 2016: Journal of Clinical Anesthesia
https://www.readbyqxmd.com/read/27549670/a-diagnostic-algorithm-for-eosinophilic-granulomatosis-with-polyangiitis-initially-diagnosed-as-lumbar-disc-hernia-or-lumbar-spinal-stenosis-personal-experience-and-review-of-the-literature
#18
Kosei Nagata, Shinichi Yamamoto, Kota Miyoshi, Masaki Sato, Yusuke Arino, Yoji Mikami
Eosinophilic granulomatosis with polyangiitis (EGPA, Churg-Strauss syndrome) is a rare systemic vasculitis and is difficult to diagnose. EGPA has a number of symptoms including peripheral dysesthesia caused by mononeuropathy multiplex, which is similar to radiculopathy due to lumbar disc hernia or lumbar spinal stenosis. Therefore, EGPA patients with mononeuropathy multiplex often visit orthopedic clinics, but orthopedic doctors and spine neurosurgeons have limited experience in diagnosing EGPA because of its rarity...
August 2016: Acta Medica Okayama
https://www.readbyqxmd.com/read/27512007/the-effect-of-pregabalin-codeine-combination-on-partial-sciatic-nerve-ligation-induced-peripheral-mononeuropathy-in-rats
#19
G Popa, L Mititelu Tartau, I Stoleriu, R V Lupusoru, C E Lupusoru, L Ochiuz
The present study investigates the effects of pregabalin (PGB) and codeine (COD) combination on neuropathic hyperalgesia in an animal model of peripheral nerve injury represented by partial sciatic nerve ligation. Hot plate and analgesimeter tests were performed to evaluate the influence of PGB, COD and their combination on thermal and mechanical hyperalgesia in the hind paw with partial sciatic nerve ligation. Reactivity was evaluated by measuring the latency to withdrawal of the operated hind paw from the noxious heat and pressure stimulation...
June 2016: Journal of Physiology and Pharmacology: An Official Journal of the Polish Physiological Society
https://www.readbyqxmd.com/read/27471096/simultaneous-acute-shoulder-arthritis-and-multiple-mononeuropathy-in-a-newly-diagnosed-type-2-diabetes-patient-first-case-report
#20
Dariusz Kotlęga, Monika Gołąb-Janowska, Grzegorz Zaborowski, Sylwester Ciećwież, Przemysław Nowacki
Diabetes is a common disorder that leads to the musculoskeletal symptoms such as the shoulder arthritis. The involvement of peripheral nervous system is one of the troublesome for the patients as it provokes chronic sensory symptoms, lower motor neuron involvement and autonomic symptoms. In the course of the disease there has been several types of neuropathies described. A 41-year-old male patient was admitted to the internal medicine department because of the general weakness, malaise, polydypsia and polyuria since several days...
July 25, 2016: Neurologia i Neurochirurgia Polska
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