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https://www.readbyqxmd.com/read/29053833/clinical-pathological-and-functional-characterization-of-riboflavin-responsive-neuropathy
#1
Andreea Manole, Zane Jaunmuktane, Iain Hargreaves, Marthe H R Ludtmann, Vincenzo Salpietro, Oscar D Bello, Simon Pope, Amelie Pandraud, Alejandro Horga, Renata S Scalco, Abi Li, Balasubramaniem Ashokkumar, Charles M Lourenço, Simon Heales, Rita Horvath, Patrick F Chinnery, Camilo Toro, Andrew B Singleton, Thomas S Jacques, Andrey Y Abramov, Francesco Muntoni, Michael G Hanna, Mary M Reilly, Tamas Revesz, Dimitri M Kullmann, James E C Jepson, Henry Houlden
Brown-Vialetto-Van Laere syndrome represents a phenotypic spectrum of motor, sensory, and cranial nerve neuropathy, often with ataxia, optic atrophy and respiratory problems leading to ventilator-dependence. Loss-of-function mutations in two riboflavin transporter genes, SLC52A2 and SLC52A3, have recently been linked to Brown-Vialetto-Van Laere syndrome. However, the genetic frequency, neuropathology and downstream consequences of riboflavin transporter mutations are unclear. By screening a large cohort of 132 patients with early-onset severe sensory, motor and cranial nerve neuropathy we confirmed the strong genetic link between riboflavin transporter mutations and Brown-Vialetto-Van Laere syndrome, identifying 22 pathogenic mutations in SLC52A2 and SLC52A3, 14 of which were novel...
September 26, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29032218/the-hypoglossal-nerve-anatomical-study-of-its-entire-course
#2
Giorgio Iaconetta, Domenico Solari, Alessandro Villa, Clotilde Castaldo, Rosa Maria Gerardi, Gianluigi Califano, Stefania Montagnani, Paolo Cappabianca
OBJECT: Only a few anatomic studies concerning the entire course of the hypoglossal nerve (cranial nerve XII) have been reported. The purpose of the present study is to analyze all the relationships of the XII nerve with the surrounding structures from the brainstem to the tongue through a microscopic perspective. A comprehensive anatomically and clinically oriented classification of its different segments is proposed. METHODS: Ten formalin-fixed adult human cadaveric heads (20 sides) were dissected with the aim to explore the entire course of the XII cranial nerve via the lateral suboccipital, the far lateral partial or total transcondilar routes...
October 11, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/29026668/fourth-ventricle-neurocysticercosis-rigid-endoscopic-management-description-of-direct-transcerebellar-approach
#3
A Ceja-Espinosa, J A Franco-Jiménez, A Sosa-Nájera, G A Gutiérrez-Aceves, M I Ruiz-Flores
BACKGROUND: Endoscopy has gained a crucial role in high specialty neurosurgery during the last decades. At present, there are well-defined flexible neuroendoscopic procedures to treat ventricular and subarachnoid space pathologies. Neurocysticercosis is recognized as a common cause of neurologic disease in developing countries and the United States. Surgical intervention, especially cerebrospinal fluid diversion, is the key for management of hydrocephalus. In 2002, a consensus suggested that ventricular forms should be treated with endoscopy as the first option...
2017: Surgical Neurology International
https://www.readbyqxmd.com/read/29026664/supratentorial-extraparenchymal-schwannoma-mimicking-parasagittal-meningioma-a-rare-case-report
#4
Uday S Raswan, Irfan Bhat, Nuzhat Samoon, Sajad H Arif, Masood Laharwal, Sarbjit S Chhiber, Altaf Umar Ramzan
BACKGROUND: Intracranial schwannomas not related to cranial nerves are very rare. Young age, no known history of neurofibromatosis, and seizure as initial symptom have been reported to be associated with intraparenchymal schwannoma. CASE DESCRIPTION: We report a case of supratentorial parasagittal schwannoma in the right frontal region presenting with seizure episode in a 70-year-old man. Computed tomography and magnetic resonance imaging showed a right frontal solid, enhancing extra-axial lesion based on anterior and middle third junction of superior sagittal sinus...
2017: Surgical Neurology International
https://www.readbyqxmd.com/read/28993357/runx1-runx1t1-positive-acute-myeloid-leukaemia-presenting-as-bilateral-proptosis-and-multiple-cranial-nerve-palsy
#5
Sidharth Totadri, Prateek Bhatia, Sreejesh Sreedharanunni
We describe a unique presentation of acute myeloid leukaemia (AML) with myeloid sarcoma (MS), manifested as proptosis with multiple cranial nerve palsies in a 9-year-old boy. MRI of the brain revealed multiple enhancing lesions and bilateral mastoiditis, in addition to sagittal sinus thrombosis. Peripheral blood smear demonstrated blasts showing Auer rods. Bone marrow examination confirmed the diagnosis of AML. PCR was positive for RUNX1-RUNX1T1. Neurological deficits improved with induction chemotherapy for AML...
October 9, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28987316/bypass-for-symptomatic-in-stent-carotid-restenosis
#6
Francesco Stilo, Pasqualino Sirignano, Nunzio Montelione, Wassim Mansour, Laura Capoccia, Vincenzo Catanese, Francesco Spinelli, Francesco Speziale
BACKGROUND: To evaluate early and long-term outcomes of symptomatic patients treated for in-stent carotid restenosis (ISR) with carotid bypass (CB). METHODS: Data were retrospectively collected from a prospectively compiled database on patients treated with CB in two high-volume Italian centers between 2008 and 2016, for symptomatic high-grade ISR after CAS. After carotid endarterectomy and stent removal, a greater saphenous vein (GSV) was preferentially employed as the graft; when the GSV was not accessible, a 6mm polytetrafluoroethylene (PTFE) graft was implanted...
September 20, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28983422/speech-language-pathology-evaluation-and-management-of-hyperkinetic-disorders-affecting-speech-and-swallowing-function
#7
REVIEW
Julie M Barkmeier-Kraemer, Heather M Clark
BACKGROUND: Hyperkinetic dysarthria is characterized by abnormal involuntary movements affecting respiratory, phonatory, and articulatory structures impacting speech and deglutition. Speech-language pathologists (SLPs) play an important role in the evaluation and management of dysarthria and dysphagia. This review describes the standard clinical evaluation and treatment approaches by SLPs for addressing impaired speech and deglutition in specific hyperkinetic dysarthria populations. METHODS: A literature review was conducted using the data sources of PubMed, Cochrane Library, and Google Scholar...
2017: Tremor and Other Hyperkinetic Movements
https://www.readbyqxmd.com/read/28983379/hypoglossal-nerve-mononeuropathy-as-the-first-presenting-symptom-of-progressing-multiple-myeloma
#8
Neil B Newman, Vidya Puthenpura, Stephanie Mischell, Gabriela Ferreira
Multiple myeloma (MM) rarely presents with a primary neurological dysfunction, and if it does it is usually due to a plasmacytoma. This is the first case to discuss hypoglossal nerve dysfunction as the first sign of MM progression secondary to severe pathophysiologic bone lysis. A PubMed-based literature search was completed on April 17, 2016 for the terms "multiple myeloma" and "hypoglossal nerve neuropathy". A 73-year-old woman with known MM who received little treatment for several years, presented secondary to dysarthria and at first was thought to have hyperviscosity syndrome...
February 2017: World Journal of Oncology
https://www.readbyqxmd.com/read/28967311/transpetrosal-approach-to-petro-clival-meningioma
#9
Turki Elarjani, Rakshith Shetty, Harminder Singh, Harley B da Silva, Laligam N Sekhar
A 38-year-old woman had a 3-week gradual onset of right-sided weakness in the upper and lower extremities. MRI showed a large left petro-clival meningioma encasing the basilar and left superior cerebellar artery and compressing the brainstem. A posterior transpetrosal approach, with a left temporal and retrosigmoid craniotomy and mastoidectomy, was performed. The tumor was removed in a gross-total resection with questionable remnants adherent to the brainstem. Intraoperative partial iatrogenic injury to the left oculomotor nerve was repaired with fibrin glue...
October 2017: Neurosurgical Focus
https://www.readbyqxmd.com/read/28951326/developmental-roles-of-the-spontaneous-depolarization-wave-in-synaptic-network-formation-in-the-embryonic-brainstem
#10
Yoko Momose-Sato, Katsushige Sato
One of the earliest activities expressed within the developing central nervous system is a widely propagating wave-like activity, which we referred to as the depolarization wave. Despite considerable consensus concerning the global features of the activity, its physiological role is yet to be clarified. The depolarization wave is expressed during a specific period of functional synaptogenesis, and this developmental profile has led to the hypothesis that the wave plays some roles in synaptic network organization...
September 23, 2017: Neuroscience
https://www.readbyqxmd.com/read/28932362/clinical-radiological-pathological-correlation-of-cavernous-sinus-hemangioma-incremental-value-of-diffusion-weighted-imaging
#11
Abhishek Mahajan, Vedula Rajni Kanth Rao, Gudipati Anantaram, Ashwin M Polnaya, Sandeep Desai, Paresh Desai, Rammohan Vadapalli, Manas Panigrahi
AIM: To elucidate the clinical, magnetic resonance imaging (MRI), pathological features of these lesions and asses the incremental value of diffusion-weighted imaging (DWI) in diagnosing them. METHODS: Fifteen consecutive patients (11 females and 4 males; mean age 40.93 years; age range 13-63 years) with cavernous sinus hemangiomas (CSH) who underwent examination between November 2008 and May 2016 were included for the analysis. MRI, clinical and surgical findings of each patient was retrospectively reviewed...
August 28, 2017: World Journal of Radiology
https://www.readbyqxmd.com/read/28899835/successful-treatment-by-microvascular-decompression-surgery-of-a-patient-with-hemiparesis-due-to-vertebral-artery-compression-of-the-medulla-oblongata-a-case-report-and-literature-review
#12
Jibin Ren, Hongtao Sun, Yunfeng Diao, Xuegang Niu, Hang Wang, Zhengjun Wei, Fei Yuan
Little literature is available on hemiparesis caused by vascular medullary compression, which may occur as a result of dolichoectasia of the vertebrobasilar arterial system. In this paper, we report a case of vertebral artery compression of the medulla oblongata in a 67-year old woman. The patient was hypertensive and developed hemiparesis and intermittent spasms for five years, which became worsened for one year. Cranial nerve MRI showed compression of the medulla oblongata by the left vertebral artery. Motor evoked potential (MEP) examination showed abnormal conduction of MEPs of bilateral toe abductors...
September 9, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28894826/functional-and-histological-effects-of-chronic-neural-electrode-implantation
#13
REVIEW
Ronald Sahyouni, David T Chang, Omid Moshtaghi, Amin Mahmoodi, Hamid R Djalilian, Harrison W Lin
OBJECTIVES: Permanent injury to the cranial nerves can often result in a substantial reduction in quality of life. Novel and innovative interventions can help restore form and function in nerve paralysis, with bioelectric interfaces among the more promising of these approaches. The foreign body response is an important consideration for any bioelectric device as it influences the function and effectiveness of the implant. The purpose of this review is to describe tissue and functional effects of chronic neural implantation among the different categories of neural implants and highlight advances in peripheral and cranial nerve stimulation...
April 2017: Laryngoscope Investigative Otolaryngology
https://www.readbyqxmd.com/read/28887894/interobserver-variation-in-the-diagnosis-of-neurologic-abnormalities-in-the-horse
#14
W J A Saville, S M Reed, J P Dubey, D E Granstrom, P S Morley, K W Hinchcliff, C W Kohn, T E Wittum, J D Workman
BACKGROUND: The diagnosis of equine protozoal myeloencephalitis (EPM) relies heavily on the clinical examination. The accurate identification of neurologic signs during a clinical examination is critical to the interpretation of laboratory results. OBJECTIVE: To investigate the level of agreement between board-certified veterinary internists when performing neurologic examinations in horses. ANIMALS: Ninety-seven horses admitted to the Veterinary Teaching Hospital at The Ohio State University from December 1997 to June 1998...
September 9, 2017: Journal of Veterinary Internal Medicine
https://www.readbyqxmd.com/read/28878414/atlanto-axial-malformation-in-an-adult-quarter-horse-gelding
#15
Robert Cole, Jennifer Taintor, Reid Hanson
An adult gelding was evaluated for bilateral intermittent forelimb lameness of approximately 2 years duration. The horse was found to have grade 2/5 upper motor neuron-general proprioception ataxia with no cranial nerve deficits. During radiographic and gross necropsy examinations a novel atlanto-axial malformation of possible congenital etiology was found.
September 2017: Canadian Veterinary Journal. la Revue Vétérinaire Canadienne
https://www.readbyqxmd.com/read/28865185/developmental-morphology-and-topography-of-the-components-of-the-cervical-sympathetic-trunk-in-sheep-ovis-aries-during-the-fetal-period
#16
Jamal Nourinezhad, Saleh Bamohabat, Yazdan Mazaheri
The objective of this study was to clarify the typical architecture and morphological variations of cervical sympathetic trunk (CST) in sheep during fetal period. Components of CST were examined on both sides of 40 male and female sheep fetuses aged from 60-140 days under a stereomicroscope. Skeletotopy and frequency of presence of cranial cervical ganglion (CCG), syntopy of cervical ganglia, and composition and topography of vagosympathetic trunk were consistent among specimens whereas the shape of cervical ganglia, the skeletotopy and number of three middle cervical ganglia (MG), and the frequency of communicating branches of CCG to the first cervical spinal nerve exhibited differences during fetal period...
September 2, 2017: Anatomical Record: Advances in Integrative Anatomy and Evolutionary Biology
https://www.readbyqxmd.com/read/28845325/ocular-causes-of-abnormal-head-position-strabismus-clinic-data
#17
Kadriye Erkan Turan, Hande Taylan Şekeroğlu, İrem Koç, Esra Vural, Jale Karakaya, Emin Cumhur Şener, Ali Şefik Sanaç
OBJECTIVES: To determine the most common ocular causes and types of abnormal head position (AHP) and describe their clinical features. MATERIALS AND METHODS: Patients with AHP who had been followed in the strabismus unit were retrospectively reviewed. Demographic features and orthoptic characteristics were recorded. RESULTS: A total of 163 patients including 61 women (37.4%) and 102 men (62.6%), with a mean age of 19.9±18.3 were recruited...
August 2017: Turkish Journal of Ophthalmology
https://www.readbyqxmd.com/read/28834978/-examination-of-bell-s-palsy-in-consideration-of-the-austrian-private-accident-insurance
#18
Wolfgang Willibald Kuchler
In western Europe peripheral facial palsy is the most common cranial nerve disorder. The constitutional palsy may be ideopathic or combined with other disorders, above all Lyme's disease and otogenic zoster. The traumatic palsy is nearly always combined with other severe injuries and above all caused by accidents.Constitutional palsies have a less degree of partial recovery compared to the traumatic forms. The expert has to evaluate the actual status of palsy at the time of examination and also to consider prognostic outcome...
August 23, 2017: Laryngo- Rhino- Otologie
https://www.readbyqxmd.com/read/28820625/multimodal-image-analysis-of-the-retina-in-hunter-syndrome-mucopolysaccharidosis-type-ii-case-report
#19
Isadora Darriba Macedo Salvucci, Simone Finzi, Maria Kiyoko Oyamada, Chong Ae Kim, Sérgio Luis Gianotti Pimentel
INTRODUCTION: We report a case of retinal and posterior ocular findings in a 33-year-old man diagnosed with Hunter syndrome (Mucopolysaccharidosis type II) in a multimodal imaging way. CASE PRESENTATION: Our patient was complaining of blurred night vision for the past 3 years. He had not received any systemic treatment for Hunter syndrome. Vision acuity was 20/20 in both eyes and corneas were clear. Fundus examination revealed bilateral crowded and hyperemic optic nerve heads (elevated in the ocular ultrasound) and areas of subretinal hypopigmentation...
August 18, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28808901/the-utility-of-routine-intensive-care-admission-for-patients-undergoing-intracranial-neurosurgical-procedures-a-systematic-review
#20
Cesar Cimonari de Almeida, M Dustin Boone, Yosef Laviv, Burkhard S Kasper, Clark C Chen, Ekkehard M Kasper
BACKGROUND: Patients who have undergone intracranial neurosurgical procedures have traditionally been admitted to an intensive care unit (ICU) for close postoperative neurological observation. The purpose of this study was to systematically review the evidence for routine ICU admission in patients undergoing intracranial neurosurgical procedures and to evaluate the safety of alternative postoperative pathways. METHODS: We were interested in identifying studies that examined selected patients who presented for elective, non-emergent intracranial surgery whose postoperative outcomes were compared as a function of ICU versus non-ICU admission...
August 14, 2017: Neurocritical Care
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