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https://www.readbyqxmd.com/read/27904503/stem-cell-ophthalmology-treatment-study-scots-bone-marrow-derived-stem-cells-in-the-treatment-of-leber-s-hereditary-optic-neuropathy
#1
Jeffrey N Weiss, Steven Levy, Susan C Benes
The Stem Cell Ophthalmology Treatment Study (SCOTS) is currently the largest-scale stem cell ophthalmology trial registered at ClinicalTrials.gov (identifier: NCT01920867). SCOTS utilizes autologous bone marrow-derived stem cells (BMSCs) to treat optic nerve and retinal diseases. Treatment approaches include a combination of retrobulbar, subtenon, intravitreal, intra-optic nerve, subretinal, and intravenous injection of autologous BMSCs according to the nature of the disease, the degree of visual loss, and any risk factors related to the treatments...
October 2016: Neural Regeneration Research
https://www.readbyqxmd.com/read/27854094/cubital-tunnel-syndrome-caused-by-ulnar-nerve-schwannoma-in-a-patient-with-diabetic-sensorimotor-polyneuropathy
#2
Meng-Ta Liu, Jiunn-Tay Lee, Chih-Hsin Wang, Yu-Chieh Lin, Chung-Hsing Chou
PURPOSE: An uncommon ulnar nerve schwannoma should not be neglected in a diabetic patient with cubital tunnel syndrome, the second most common cause of entrapment neuropathy. CASE REPORT: A 61-year-old woman with a past history of type 2 diabetes mellitus complicated with sensorimotor polyneuropathy presented with progressive numbness and weakness of the left ring and little fingers for one year. A provisional diagnosis of cubital tunnel syndrome was made according to physical examination and electrophysiological studies...
June 15, 2016: Acta Neurologica Taiwanica
https://www.readbyqxmd.com/read/27772781/congenital-insensitivity-to-pain-with-anhidrosis-a-report-of-two-siblings-with-a-novel-mutation-in-trka-ntrk1-gene-in-a-saudi-family
#3
Hussein Algahtani, Muhammad Imran Naseer, Mohammad Al-Qahtani, Shireen Abubakr Abdulrahman, Faisal Boker, Bader Shirah
Congenital insensitivity to pain with anhidrosis (CIPA) or hereditary sensory and autonomic neuropathy type IV (HSAN type IV) is an extremely rare autosomal recessive disorder with an estimated incidence of 1 in 25,000. It was first described in 1963, and since then several case reports and review articles have been published. In this article, we report two brothers with clinical features of CIPA, who presented with recurrent episodes of hyperthermia, anhidrosis, profound loss of pain sensitivity, and unconscious self-mutilation of fingers, lip and tongue...
November 15, 2016: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/27763945/paracentral-acute-middle-maculopathy-associated-with-retinal-artery-occlusion-after-cosmetic-filler-injection
#4
Jayanth Sridhar, Abtin Shahlaee, Wen-Shi Shieh, Ehsan Rahimy
PURPOSE: To report a single case of paracentral acute middle maculopathy in association with retinal artery occlusion in the setting of ipsilateral facial cosmetic filler injection. METHODS: Case report. PATIENT: A 35-year-old woman presenting with sudden vision loss to finger count vision immediately after left nasal fat pad cosmetic filler injection. RESULTS: Dilated funduscopic examination revealed a swollen optic disc with multiple branch arterial occlusions with visible embolic material...
October 19, 2016: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/27763908/ultrasonographic-and-surgical-findings-of-acute-radial-neuropathy-following-blunt-trauma
#5
Seok-Youl Choi, Jong Woong Park, Dong Hwee Kim
Ultrasonographic study is useful for decision making of treatment for focal neuropathy with unusual electrodiagnostic findings. We present a patient with severe acute radial neuropathy with sensory sparing around the distal arm secondary to twisting of the radial nerve following blunt trauma. A 24-year-old man with a 2-week history of left wrist drop and severe pain around the left elbow presented after hitting the left distal arm on the doorknob. The left wrist and finger extensions were grade 0, but elbow extension could not be tested because of severe pain during this action...
November 2016: American Journal of Physical Medicine & Rehabilitation
https://www.readbyqxmd.com/read/27756521/the-course-of-neuropathic-symptoms-in-relation-to-adjuvant-chemotherapy-among-elderly-patients-with-stage-iii-colon-cancer-a%C3%A2-longitudinal-study
#6
Felice N van Erning, Maryska L G Janssen-Heijnen, Johannes A Wegdam, Gerrit D Slooter, Jan H Wijsman, Art Vreugenhil, Tonneke A J M Beijers, Lonneke V van de Poll-Franse, Valery E P P Lemmens
INTRODUCTION: Among the elderly, the impairment of functional capacities due to neuropathy can have a significant impact. The aim of the present study was to investigate the course of neuropathic symptoms among elderly patients with stage III colon cancer treated with CAPOX (capecitabine, oxaliplatin), capecitabine monotherapy, or no adjuvant chemotherapy. MATERIALS AND METHODS: The Netherlands Cancer Registry was used to select patients with stage III colon cancer and aged ≥ 70 years...
September 17, 2016: Clinical Colorectal Cancer
https://www.readbyqxmd.com/read/27637963/peripheral-neuropathies
#7
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/27570324/optic-neuropathy-with-delayed-onset-after-trauma-case-report-and-review-of-the-literature
#8
Kai B Kang, Scott Jones, Amjad Ahmad, Heather E Moss
We report a case of a 16 year-old healthy male, who experienced loss of vision in the right eye immediately after getting punched by a fist. His visual acuity improved to 20/20 within hours, and the optic nerve head appeared normal. CT scan of the orbits showed fractures of the right inferior orbital wall and lamina papyracea. The morning after the injury, he awoke with right eye vision decline to count fingers. There was pallid optic nerve swelling. MRI scan of the orbits showed right medial rectus enlargement and no optic canal abnormalities...
2016: Neuro-ophthalmology
https://www.readbyqxmd.com/read/27565099/hand-compression-neuropathy-an-assessment-guide
#9
REVIEW
Kyle J MacGillis, Alfonso Mejia, Maria Z Siemionow
When a patient presents with pain or paresthesias of the hand and fingers, knowing what to ask, what to look for, and which tests to consider is essential.
July 2016: Journal of Family Practice
https://www.readbyqxmd.com/read/27507946/relationship-between-age-and-the-ability-to-break-scored-tablets
#10
Kim Notenboom, Herman Vromans, Maarten Schipper, Hubert G M Leufkens, Marcel L Bouvy
BACKGROUND: Practical problems with the use of medicines, such as difficulties with breaking tablets, are an often overlooked cause for non-adherence. Tablets frequently break in uneven parts and loss of product can occur due to crumbling and powdering. Health characteristics, such as the presence of peripheral neuropathy, decreased grip strength and manual dexterity, can affect a patient's ability to break tablets. As these impairments are associated with aging and age-related diseases, such as Parkinson's disease and arthritis, difficulties with breaking tablets could be more prevalent among older adults...
2016: Frontiers in Pharmacology
https://www.readbyqxmd.com/read/27466392/near-complete-elimination-of-mutant-mtdna-by-iterative-or-dynamic-dose-controlled-treatment-with-mtzfns
#11
Payam A Gammage, Edoardo Gaude, Lindsey Van Haute, Pedro Rebelo-Guiomar, Christopher B Jackson, Joanna Rorbach, Marcin L Pekalski, Alan J Robinson, Marine Charpentier, Jean-Paul Concordet, Christian Frezza, Michal Minczuk
Mitochondrial diseases are frequently associated with mutations in mitochondrial DNA (mtDNA). In most cases, mutant and wild-type mtDNAs coexist, resulting in heteroplasmy. The selective elimination of mutant mtDNA, and consequent enrichment of wild-type mtDNA, can rescue pathological phenotypes in heteroplasmic cells. Use of the mitochondrially targeted zinc finger-nuclease (mtZFN) results in degradation of mutant mtDNA through site-specific DNA cleavage. Here, we describe a substantial enhancement of our previous mtZFN-based approaches to targeting mtDNA, allowing near-complete directional shifts of mtDNA heteroplasmy, either by iterative treatment or through finely controlled expression of mtZFN, which limits off-target catalysis and undesired mtDNA copy number depletion...
September 19, 2016: Nucleic Acids Research
https://www.readbyqxmd.com/read/27438192/thermographic-analysis-and-autonomic-response-in-the-hands-of-patients-with-leprosy
#12
Aretusa Lopes Cavalheiro, Debora Tacon da Costa, Ana Luiza Ferro de Menezes, Janser Moura Pereira, Eliane Maria de Carvalho
BACKGROUND: Low temperatures and slow blood flow may result from peripheral neuropathy caused by leprosy, and the simple detection of cold fingers could already be a preliminary classification for these patients. OBJECTIVE: To investigate whether infrared thermography would be able to measure this change in temperature in the hands of people with leprosy. METHOD: The study assessed 17 leprosy patients who were under treatment at the National Reference Center for Sanitary Dermatology and Leprosy, Uberlândia/MG, and 15 people without leprosy for the control group...
May 2016: Anais Brasileiros de Dermatologia
https://www.readbyqxmd.com/read/27401721/peripheral-neuropathy-in-patients-with-myotonic-dystrophy-type-2
#13
L Leonardis
OBJECTIVES: Myotonic dystrophy type 2 (dystrophia myotonica type 2-DM2) is an autosomal dominant multi-organ disorder. The involvement of the peripheral nervous system was found in 25%-45% of patients with myotonic dystrophy type 1, although limited data are available concerning polyneuropathy in patients with DM2, which was the aim of this study with a thorough presentation of the cases with peripheral neuropathy. MATERIAL AND METHODS: Patients with genetically confirmed DM2 underwent motor nerve conduction studies of the median, ulnar, tibial and fibular nerves and sensory nerve conduction studies of the median (second finger), ulnar (fifth finger), radial (forearm) and sural nerves...
July 12, 2016: Acta Neurologica Scandinavica
https://www.readbyqxmd.com/read/27396516/differential-weakness-of-finger-extensor-muscles-a-clinical-pattern-of-multifocal-motor-neuropathy
#14
Trajche Ivanovski, Francesc Miralles
INTRODUCTION: Several studies have suggested that differential weakness in muscles supplied by the same motor nerve supports the diagnosis of multifocal motor neuropathy (MMN). METHODS: We describe the clinical, electrophysiological, neuroimaging, and laboratory findings of patients with a lower motor syndrome whose clinical presentation included differential finger extension weakness that we have seen in our neuromuscular clinic. RESULTS: We identified 3 patients with hand weakness and 1 patient with asymmetric weakness of the upper extremity...
July 11, 2016: Muscle & Nerve
https://www.readbyqxmd.com/read/27294512/zeb2-is-essential-for-schwann-cell-differentiation-myelination-and-nerve-repair
#15
Susanne Quintes, Bastian G Brinkmann, Madlen Ebert, Franziska Fröb, Theresa Kungl, Friederike A Arlt, Victor Tarabykin, Danny Huylebroeck, Dies Meijer, Ueli Suter, Michael Wegner, Michael W Sereda, Klaus-Armin Nave
Schwann cell development and peripheral nerve myelination require the serial expression of transcriptional activators, such as Sox10, Oct6 (also called Scip or Pou3f1) and Krox20 (also called Egr2). Here we show that transcriptional repression, mediated by the zinc-finger protein Zeb2 (also known as Sip1), is essential for differentiation and myelination. Mice lacking Zeb2 in Schwann cells develop a severe peripheral neuropathy, caused by failure of axonal sorting and virtual absence of myelin membranes. Zeb2-deficient Schwann cells continuously express repressors of lineage progression...
August 2016: Nature Neuroscience
https://www.readbyqxmd.com/read/27294509/zeb2-recruits-hdac-nurd-to-inhibit-notch-and-controls-schwann-cell-differentiation-and-remyelination
#16
Lai Man Natalie Wu, Jincheng Wang, Andrea Conidi, Chuntao Zhao, Haibo Wang, Zachary Ford, Liguo Zhang, Christiane Zweier, Brian G Ayee, Patrice Maurel, An Zwijsen, Jonah R Chan, Michael P Jankowski, Danny Huylebroeck, Q Richard Lu
The mechanisms that coordinate and balance a complex network of opposing regulators to control Schwann cell (SC) differentiation remain elusive. Here we demonstrate that zinc-finger E-box-binding homeobox 2 (Zeb2, also called Sip1) transcription factor is a critical intrinsic timer that controls the onset of SC differentiation by recruiting histone deacetylases HDAC 1 and 2 (HDAC1/2) and nucleosome remodeling and deacetylase complex (NuRD) co-repressor complexes in mice. Zeb2 deletion arrests SCs at an undifferentiated state during peripheral nerve development and inhibits remyelination after injury...
August 2016: Nature Neuroscience
https://www.readbyqxmd.com/read/27247588/hereditary-sensory-and-autonomic-neuropathy-type-iv-in-9-year-old-boy-a-case-report
#17
Mohaddeseh Azadvari, Seyedeh Zahra Emami Razavi, Shahrbanoo Kazemi
Objective The Hereditary Sensory and Autonomic neuropathy (HSAN) is a rare group of neuropathies that affects the Sensory and Autonomic nervous system. The patients do not have the ability of sensing different sensations such as pain and temperature, which tends to lead to different injuries. In addition, due to autonomic involvement, the patients suffer from fluctuation in body temperature periodically and lack of precipitation. HSAN is divided into 5 types according to the age of onset, clinical features, and inheritance...
2016: Iranian Journal of Child Neurology
https://www.readbyqxmd.com/read/27142825/delayed-diagnosed-intermuscular-lipoma-causing-a-posterior-interosseous-nerve-palsy-in-a-patient-with-cervical-spondylosis-the-priceless-value-of-the-clinical-examination-in-the-technological-era
#18
R Colasanti, M Iacoangeli, A Di Rienzo, M Dobran, L Di Somma, N Nocchi, M Scerrati
BACKGROUND: Posterior interosseous nerve (PIN) palsy may present with various symptoms, and may resemble cervical spondylosis. CASE REPORT: We report about a 59-year-old patient with cervical spondylosis which delayed the diagnosis of posterior interosseous nerve (PIN) palsy due to an intermuscular lipoma. Initial right hand paraesthesias and clumsiness, together with MR findings of right C5-C6 and C6-C7 foraminal stenosis, misled the diagnostic investigation. The progressive loss of extension of all right hand fingers brought to detect a painless mass compressing the PIN...
January 2016: Il Giornale di Chirurgia
https://www.readbyqxmd.com/read/27099747/posterior-interosseous-neuropathy-the-diagnostic-benefits-of-a-multimodal-approach-to-investigation
#19
Andrew Robert Lawley, Shouvik Saha, Francesco Manfredonia
Posterior interosseous neuropathy should be considered in patients presenting with finger and wrist drop and no sensory deficit. Clinical and electrophysiological assessments are key to a diagnosis. MRI may disclose etiological information not available to clinical or neurophysiological assessment, and should be thought as a complementary diagnostic tool.
April 2016: Clinical Case Reports
https://www.readbyqxmd.com/read/27088476/ultrasonographic-and-surgical-findings-of-acute-radial-neuropathy-following-blunt-trauma-a-case-report
#20
Seok-Youl Choi, Jong Woong Park, Dong Hwee Kim
Ultrasonographic study is useful for decision making of treatment for focal neuropathy with unusual electrodiagnostic findings. We present a patient with severe acute radial neuropathy with sensory sparing around the distal arm secondary to twisting of the radial nerve following blunt trauma. A 24-year-old man with a 2-week history of left wrist drop and severe pain around the left elbow presented after hitting the left distal arm on the doorknob. The left wrist and finger extensions were grade 0, but elbow extension could not be tested because of severe pain during this action...
April 15, 2016: American Journal of Physical Medicine & Rehabilitation
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