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https://www.readbyqxmd.com/read/28239347/hearing-dysfunction-in-xpa-deficient-mice
#1
Hitomi Shinomiya, Daisuke Yamashita, Takeshi Fujita, Eiji Nakano, Go Inokuchi, Shingo Hasegawa, Naoki Otsuki, Chikako Nishigori, Ken-Ichi Nibu
Xeroderma pigmentosum (XP) is a rare recessive heredity disease caused by DNA repair impairment characterized by photosensitivity and neurologic symptoms in half of the cases. There are eight subtypes of XP: XP-A-XP-G and XP variant. Among eight subtypes, XP complementation group A (XP-A) display the lowest DNA repair ability and the severest cutaneous and neurologic symptoms. While its pathogenesis of skin symptoms have been well-studied, that of neurological symptoms, including sensorineural hearing loss (SNHL) remains unknown...
2017: Frontiers in Aging Neuroscience
https://www.readbyqxmd.com/read/28238395/profound-hypotension-and-bradycardia-in-the-setting-of-synthetic-cannabinoid-intoxication-a-case-series
#2
David O Andonian, Shauna R Seaman, Elaine B Josephson
Cannabinoids are the most commonly used illegal substances in the world [1]. Synthetic Cannabinoids (SCB) are also known as "Spice", "K2", "Spike", "herbal incense", "Cloud 9", "Mojo" and many others are becoming a large public health concern due to their increasing use, unpredictable toxicity, and abuse potential [2]. The most common reported toxicities with SCB use based on studies using Texas Poison control record are tachycardia, agitation and irritability, drowsiness, hallucinations, delusions, hypertension, nausea, confusion, dizziness, vertigo, chest pain, acute kidney injury, seizures, heart attacks and both ischemic and hemorrhagic strokes [3]...
January 12, 2017: American Journal of Emergency Medicine
https://www.readbyqxmd.com/read/28237853/familial-cortical-myoclonic-tremor-and-epilepsy-description-of-a-new-south-african-pedigree-with-30-year-follow-up
#3
Riaan van Coller, Anne-Fleur van Rootselaar, Clara Schutte, C H van der Meyden
AIM: The aims of this study were to report the index case of a South African family with cortical myoclonic tremor and epilepsy, to describe the pedigree with the clinical findings and results of additional investigations, and to report the unique follow-up evaluation of affected and unaffected family members after 30 years. METHODS: The index case led to evaluation of the clinical files of patients from 1978/1979 and clinical assessment and investigation of patients from this cohort as well as newly identified family members...
February 21, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28237144/retrospective-analysis-of-translaminar-demographic-and-physiologic-parameters-in-relation-to-papilledema-severity
#4
David Fleischman, Jennifer T Perry, R Rand Allingham, Sandra S Stinnett, Gita M Fleischman, Syndee J Givre, David A Chesnutt
OBJECTIVE: Some case reports suggest that the translaminar pressure difference is important in cases of papilledema. The purpose of this study was to determine ocular, physiologic, and demographic factors associated with papilledema severity. DESIGN: Retrospective, blinded study. PARTICIPANTS: Patients who had undergone a diagnostic lumbar puncture and had a diagnosis of papilledema in conjunction with idiopathic intracranial hypertension between 2004 and 2012 were included in the study...
February 2017: Canadian Journal of Ophthalmology. Journal Canadien D'ophtalmologie
https://www.readbyqxmd.com/read/28236869/intraventricular-hemorrhage-after-dural-fistula-embolization
#5
Joana Chaves Gonçalves Rodrigues de Carvalho, Francisco Javier Tercero Machin, Luis San Roman Manzanera, Jordi Blasco Andaluz, Sílvia Herrero Nogués, Núria Peix Soriano, Victor Obach Baurier, Enrique Jesus Carrero Cardenal
BACKGROUND AND OBJECTIVES: Dural arteriovenous fistulas are anomalous shunts between dural arterial and venous channels whose nidus is located between the dural leaflets. For those circumstances when invasive treatment is mandatory, endovascular techniques have grown to become the mainstay of practice, choice attributable to their reported safety and effectiveness. We describe the unique and rare case of a dural arteriovenous fistula treated by transarterial embolization and complicated by an intraventricular hemorrhage...
March 2017: Brazilian Journal of Anesthesiology
https://www.readbyqxmd.com/read/28236250/group-b-streptococcal-disease-in-infants-in-the-first-year-of-life-a-nationwide-surveillance-study-in-japan-2011-2015
#6
Kousaku Matsubara, Kiyoshi Hoshina, Masatoshi Kondo, Isao Miyairi, Yoshiya Yukitake, Yusuke Ito, Kisei Minami, Ryuichi Genkawa
PURPOSE: This study aimed to describe the epidemiology of childhood group B streptococcus (GBS) disease including late late-onset disease (LLOD) and to clinically characterize recurrent cases and twin-sibling cases in Japan. METHODS: We collected information on infants (<1 year of age) with invasive GBS disease and institutional information about births and transfers through a nationwide questionnaire between 2011 and 2015. RESULTS: We identified 133 infants with early-onset disease (EOD), 274 late-onset disease (LOD), and 38 LLOD from 149 institutes...
February 25, 2017: Infection
https://www.readbyqxmd.com/read/28236050/endovascular-treatment-of-intracranial-aneurysms-with-the-p64-flow-diverter-stent-mid-term-results-in-35-patients-with-41-intracranial-aneurysms
#7
Ricardo Morais, Benjamin Mine, Pierre Julien Bruyère, Gilles Naeije, Boris Lubicz
INTRODUCTION: The p64 flow diverter (FD) device is a fully resheathable and detachable stent dedicated for endovascular treatment (EVT) of intracranial aneurysms (IAs). We report our mid-term experience with this device. METHODS: Between January 2015 and February 2016, we retrospectively identified, in our prospectively maintained database, all patients treated with p64 FDs in two institutions. Independent clinical follow-up was performed by a vascular neurologist...
February 24, 2017: Neuroradiology
https://www.readbyqxmd.com/read/28235967/social-disadvantages-associated-with-myasthenia-gravis-and-its-treatment-a-multicentre-cross-sectional-study
#8
Yuriko Nagane, Hiroyuki Murai, Tomihiro Imai, Daisuke Yamamoto, Emiko Tsuda, Naoya Minami, Yasushi Suzuki, Tetsuya Kanai, Akiyuki Uzawa, Naoki Kawaguchi, Masayuki Masuda, Shingo Konno, Hidekazu Suzuki, Masashi Aoki, Kimiaki Utsugisawa
OBJECTIVES: To clarify the social disadvantages associated with myasthenia gravis (MG) and examine associations with its disease and treatment. DESIGN: Cross-sectional study. SETTING AND PARTICIPANTS: We evaluated 917 consecutive cases of established MG seen at 13 neurological centres in Japan over a short duration. OUTCOME MEASURES: All patients completed a questionnaire on social disadvantages resulting from MG and its treatment and a 15-item MG-specific quality of life scale at study entry...
February 23, 2017: BMJ Open
https://www.readbyqxmd.com/read/28235953/nickel-associated-delayed-multiple-white-matter-lesions-after-stent-assisted-coil-embolization-of-intracranial-unruptured-aneurysm
#9
Hun Soo Park, Ichiro Nakagawa, Shohei Yokoyama, Daisuke Wajima, Takeshi Wada, Yasushi Motoyama, Kimihiko Kichikawa, Hiroyuki Nakase
Metal-induced encephalopathy after stent-assisted coil embolization is extremely rare. The present report describes two patients who presented with symptomatic intracranial parenchymal edematous lesions after stent-assisted coil embolization. A 64-year-old woman underwent stent-assisted coil embolization for a left internal carotid artery aneurysm; 21 days after the procedure she presented with right hand weakness and MRI revealed multifocal white matter lesions. Another woman aged 52 years underwent stent-assisted coil embolization for right vertebral artery aneurysm; 18 days after the procedure she presented with left-sided sensory disturbance and MRI demonstrated multiple white matter lesions...
February 24, 2017: Journal of Neurointerventional Surgery
https://www.readbyqxmd.com/read/28235527/a-patient-with-postpolio-syndrome-developed-cauda-equina-syndrome-after-neuraxial-anesthesia-a-case-report
#10
Wei-Cheng Tseng, Zhi-Fu Wu, Wen-Jinn Liaw, Su-Yang Hwa, Nan-Kai Hung
Combined spinal anesthesia and postoperative epidural analgesia is widely used in orthopedic surgery. Uncommon but serious neurologic complications of neuraxial anesthesia (NA) include direct trauma during needle or catheter insertion, central nervous system infections, and neurotoxicity of local anesthetics. Cauda equina syndrome (CES) is a rare complication after NA but can result in severe neurologic deterioration that may require surgical intervention. We present a case of a 69-year-old woman with postpolio syndrome who developed CES after combined spinal anesthesia and postoperative epidural analgesia...
February 2017: Journal of Clinical Anesthesia
https://www.readbyqxmd.com/read/28235515/case-report-neuromuscular-block-induced-by-rocuronium-following-sugammadex-administration
#11
Tugba Askin, Suheyla Unver, Deniz Oguz, Kubra Kutay
We present a case in which rocuronium was applied for muscle relaxation following the administration of sugammadex. An emergency surgery under general anesthesia was planned for a 43-year-old male patient due to an L1 vertebral corpus and right tibia-fibula shaft fracture. Anesthesia was induced with fentanyl, propofol and lidocaine. After applying only 30mg of the total induction dose of rocuronium, it was learned that the neurological examination should be controlled again from the surgeon because of the controversial of the neurological deficit...
February 2017: Journal of Clinical Anesthesia
https://www.readbyqxmd.com/read/28235506/effective-volumes-of-1-5-mepivacaine-with-different-sodium-concentration-for-ultrasound-guided-popliteal-block
#12
Mercedes López, Miguel Calvo, Azahara Sancho, Nicolas Brogly, Emilia Guasch, Fernando Gilsanz
STUDY OBJECTIVE: To determine if a solution of 1.5% mepivacaine diluted with 5% dextrose, which decreases the sodium concentration by 30%, results in reduced volume requirements for a complete sensory block, in the case of an ultrasound guided popliteal nerve block. DESIGN: A randomized controlled study. SETTING: Operating room. PATIENTS: We included seventy ASA 1-3 patients, undergoing unilateral "hallux valgus" repair under ultrasound guided popliteal nerve block...
February 2017: Journal of Clinical Anesthesia
https://www.readbyqxmd.com/read/28230629/point-of-injury-tourniquet-application-during-operation-protective-edge-what-de-we-learn
#13
Amir Shlaifer, Avraham Yitzhak, Erez N Baruch, Avi Shina, Alexandra Satanovsky, Amiram Shovali, Ofer Almog, Elon Glassberg
BACKGROUND: Hemorrhage is a leading cause of preventable death on the battlefield. Timely tourniquet application to massively bleeding extremity wounds is critical for casualty survival albeit with reported adverse effects to extremity integrity. The aim of this study was to describe the immediate and short term outcomes of point of injury (POI) tourniquet applications during 'Operation Protective Edge' (OPE). METHODS: A case series study regarding tourniquet application at the POI during OPE was collected...
February 23, 2017: Journal of Trauma and Acute Care Surgery
https://www.readbyqxmd.com/read/28229571/transnasal-transsphenoidal-brain-injury-by-a-fencing-foil-an-unusual-case-report-and-brief-literature-review
#14
Rafet Özay, Mehmet S Balkan, Çağhan Tönge, Zeki Şekerci
BACKGROUND: In this report, the authors present an unusual case of a 10-year-old child who suffered a severe headache and rhinorrhea that occurred as a result of fencing foil sports injury via transnasal-transsphenoidal (TNTS) pathway. METHODS: Following to trauma, the child had shown neurological symptoms such a pupil dilatation, change in consciousness and mild hemiparesia. Imaging demonstrated destruction of bone structures including posterior wall of sphenoid sinus and anterosuperior part of sella turcica, and also a contusion at right thalamic region...
February 22, 2017: Journal of Sports Medicine and Physical Fitness
https://www.readbyqxmd.com/read/28229475/first-cases-of-zika-virus-infected-us-blood-donors-outside-states-with-areas-of-active-transmission
#15
Phillip C Williamson, Jeffrey M Linnen, Debra A Kessler, Beth H Shaz, Hany Kamel, Ralph R Vassallo, Valerie Winkelman, Kui Gao, Rainer Ziermann, Juscilene Menezes, Stephen Thomas, Jerry A Holmberg, Sonia Bakkour, Mars Stone, Kai Lu, Graham Simmons, Michael P Busch
BACKGROUND: Zika virus (ZIKV) is transmitted by Aedes mosquitos and can result in severe congenital and adult neurologic abnormalities. ZIKV has rapidly spread northward through Central America and the Caribbean and autochthonous cases have been identified in the continental United States. High rates of ZIKA RNA positivity were detected in blood donors during previous epidemics. ZIKV transmission by transfused blood from healthy donor components has been a growing concern. STUDY DESIGN AND METHODS: Individual-donation aliquots of plasma from volunteer blood donors were tested individually with an investigational Procleix ZIKV assay...
February 23, 2017: Transfusion
https://www.readbyqxmd.com/read/28229442/-rapidly-progressive-dementia-and-parkinsonism-associated-to-multiple-dural-arteriovenous-fistulas
#16
P Mejia, L M Piedra, X Merchan-Del Hierro
INTRODUCTION: Rapidly progressive dementias are an infrequent group of diseases characterised by cognitive deterioration and other neurological disorders that develop over a period ranging from weeks to months. Their causation is varied and includes a large number of neurodegenerative, toxic, metabolic, autoimmune, infectious and vascular conditions. CASE REPORT: We report the case of a 69-year-old male who was admitted to hospital due to a rapidly progressive dementia and parkinsonism caused by multiple dural arteriovenous fistulas, which were successfully treated by means of endovascular therapy...
March 1, 2017: Revista de Neurologia
https://www.readbyqxmd.com/read/28229397/emerging-causes-of-arbovirus-encephalitis-in-north-america-powassan-chikungunya-and-zika-viruses
#17
REVIEW
Christopher T Doughty, Sigal Yawetz, Jennifer Lyons
Arboviruses are arthropod-borne viruses transmitted by the bite of mosquitoes, ticks, or other arthropods. Arboviruses are a common and an increasing cause of human illness in North America. Powassan virus, Chikungunya virus, and Zika virus are arboviruses that have all recently emerged as increasing causes of neurologic illness. Powassan virus almost exclusively causes encephalitis, but cases are rare, sporadic, and restricted to portions of North America and Russia. Chikungunya virus has spread widely across the world, causing millions of infections...
February 2017: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/28229249/adcy5-related-dyskinesia-presenting-as-familial-myoclonus-dystonia
#18
Andrew G L Douglas, Gaia Andreoletti, Kevin Talbot, Simon R Hammans, Jaspal Singh, Andrea Whitney, Sarah Ennis, Nicola C Foulds
We describe a family with an autosomal dominant familial dyskinesia resembling myoclonus-dystonia associated with a novel missense mutation in ADCY5, found through whole-exome sequencing. A tiered analytical approach was used to analyse whole-exome sequencing data from an affected grandmother-granddaughter pair. Whole-exome sequencing identified 18,000 shared variants, of which 46 were non-synonymous changes not present in a local cohort of control exomes (n = 422). Further filtering based on predicted splicing effect, minor allele frequency in the 1000 Genomes Project and on phylogenetic conservation yielded 13 candidate variants, of which the heterozygous missense mutation c...
February 22, 2017: Neurogenetics
https://www.readbyqxmd.com/read/28229125/the-clinical-neuroanatomical-and-neuropathologic-phenotype-of-tbk1-associated-frontotemporal-dementia-a-longitudinal-case-report
#19
Carolin A M Koriath, Martina Bocchetta, Emilie Brotherhood, Ione O C Woollacott, Penny Norsworthy, Javier Simón-Sánchez, Cornelis Blauwendraat, Katrina M Dick, Elizabeth Gordon, Sophie R Harding, Nick C Fox, Sebastian Crutch, Jason D Warren, Tamas Revesz, Tammaryn Lashley, Simon Mead, Jonathan D Rohrer
INTRODUCTION: Mutations in the TANK-binding kinase 1 (TBK1) gene have recently been shown to cause frontotemporal dementia (FTD). However, the phenotype of TBK1-associated FTD is currently unclear. METHODS: We performed a single case longitudinal study of a patient who was subsequently found to have a novel A705fs mutation in the TBK1 gene. He was assessed annually over a 7-year period with a series of clinical, cognitive, and magnetic resonance imaging assessments...
2017: Alzheimer's & Dementia: Diagnosis, Assessment & Disease Monitoring
https://www.readbyqxmd.com/read/28229071/bilateral-vertebral-venous-sinus-thrombosis-causing-cervical-spinal-cord-compression-in-a-dog
#20
Kathryn E Rhue, Amanda R Taylor, Robert C Cole, Randolph L Winter
A 10-year-old male neutered mixed breed dog was evaluated for cervical hyperesthesia and tetraparesis. Magnetic resonance imaging of the brain and cervical spinal cord identified an extradural compressive lesion over the body of C2 caused by marked dilation of the vertebral venous sinuses. Following intravenous contrast administration both vertebral sinuses had heterogeneous contrast enhancement consistent with incomplete thrombi formation. An abdominal ultrasound also showed a distal aortic thrombus. A definitive cause for the thrombi formation was not identified, but the patient had several predisposing factors which may have contributed...
2017: Frontiers in Veterinary Science
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