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https://www.readbyqxmd.com/read/28229454/analysis-of-a-fully-penetrant-spinocerebellar-ataxia-type-8-brazilian-family
#1
V P Cintra, C M Lourenço, M M V Rocha, P J Tomaselli, W Marques
Spinocerebellar ataxia type 8 (SCA8) is a progressive neurological disorder caused by the expanded repeat CTA/CTG of two overlapping genes, ATXN8OS and ATXN8, expressed bidirectionally. Normal alleles have 15-50 repeats, and pathogenic alleles range from 71 to 1300 repeats. The disorder is relatively rare, accounting for about 2%-5% of the autosomal dominant forms of hereditary ataxia worldwide. However, the prevalence of disease-causing ATXN8OS/ATXN8 expansions is higher than the disease because of the reduced penetrance of the expanded allele...
February 22, 2017: Acta Neurologica Scandinavica
https://www.readbyqxmd.com/read/28229125/the-clinical-neuroanatomical-and-neuropathologic-phenotype-of-tbk1-associated-frontotemporal-dementia-a-longitudinal-case-report
#2
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/28228838/a-rare-case-of-bilateral-optic-neuritis-and-guillain-barr%C3%A3-syndrome-post-mycoplasma-pneumoniae-infection
#3
Aravindhan Baheerathan, Amy Ross Russell, Fion Bremner, Simon F Farmer
Neurological complications are the most commonly encountered extra-pulmonary manifestation of infection with Mycoplasma pneumoniae (M. pneumoniae). Here the authors report the case of a 39-year-old woman who was admitted with acute-onset bilateral visual loss coinciding with ascending numbness. Clinical examination, neurological imaging, and nerve conduction studies revealed a syndrome of bilateral optic neuritis and Guillain-Barré syndrome (GBS). Serological testing confirmed recent exposure to M. pneumoniae...
February 2017: Neuro-ophthalmology
https://www.readbyqxmd.com/read/28228060/resuscitation-with-lyophilized-plasma-is-safe-and-improves-neurologic-recovery-in-a-long-term-survival-model-of-swine-subjected-to-traumatic-brain-injury-hemorrhagic-shock-and-polytrauma
#4
Patrick E Georgoff, Vahagn C Nikolian, Ihab Halaweish, Kiril Chtraklin, Peter J Bruhn, Hassan Eidy, Monica Rasmussen, Yongqing Li, Ashok Srinivasan, Hasan B Alam
We have previously shown that fresh frozen plasma (FFP) and lyophilized plasma decrease brain lesion size and improve neurologic recovery in a swine model of traumatic brain injury (TBI) and hemorrhagic shock (HS). In this study, we examine whether these findings can be validated in a clinically relevant model of severe TBI, HS, and polytrauma. Female Yorkshire swine were subjected to TBI (controlled cortical impact), hemorrhage (40% volume), grade III liver and splenic injuries, rib fracture, and rectus abdominis crush...
February 22, 2017: Journal of Neurotrauma
https://www.readbyqxmd.com/read/28226633/autonomous-vision-guided-approach-for-the-analysis-and-grading-of-vertical-suspension-tests-during-hammersmith-infant-neurological-examination-hine
#5
Prasenjit Dey, Debi Prosad Dogra, Partha Pratim Roy, Harish Bhaskar, Prasenjit Dey, Debi Prosad Dogra, Partha Pratim Roy, Harish Bhaskar, Debi Prosad Dogra, Harish Bhaskar, Prasenjit Dey, Partha Pratim Roy
Computer vision assisted diagnostic systems are gaining popularity in different healthcare applications. This paper presents a video analysis and pattern recognition framework for the automatic grading of vertical suspension tests on infants during the Hammersmith Infant Neurological Examination (HINE). The proposed vision-guided pipeline applies a color-based skin region segmentation procedure followed by the localization of body parts before feature extraction and classification. After constrained localization of lower body parts, a stick-diagram representation is used for extracting novel features that correspond to the motion dynamic characteristics of the infant's leg movements during HINE...
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/28224219/-examination-of-the-wrist-and-hand
#6
H R Springorum, C Baier, J Götz, T Schwarz, A Benditz, J Grifka, G Heers
The wrist and hand form a highly complex organ that is of great importance in almost all daily activities. The hand serves as a tool and an organ of sense. Injuries of the hand and wrist as well as mechanical, neurological or systemic inflammatory changes are common. Taking a detailed history can already lead to a diagnosis. Almost all structures of the hand are easily accessible for clinical examination, i. e. inspection, palpation and clinical tests, including dynamic testing. Diagnostic imaging completes the examination procedure...
February 21, 2017: Der Schmerz
https://www.readbyqxmd.com/read/28224092/language-and-cognitive-outcome-for-high-risk-neonates-at-the-age-of-2-3-years-experience-from-an-arab-country
#7
Tamer Abou-Elsaad, Hesham Abdel-Hady, Hemmat Baz, Doaa ElShabrawi
AIM: To investigate the effect of different neonatal risk factors on different language parameters as well as cognitive abilities among Arabic speaking Egyptian children at the age of two to three years of life and to find out which risk factor(s) had the greatest impact on language and cognitive abilities. METHODS: This retrospective cohort study was conducted on 103 children with age range of 2-3 years (median age 31 mo). They were 62 males and 41 females who were exposed to different high-risk factors in the perinatal period, with exclusion of metabolic disorders, sepsis/meningitis, congenital anomalies and chromosomal aberrations...
February 8, 2017: World Journal of Clinical Pediatrics
https://www.readbyqxmd.com/read/28223927/effects-of-stroke-on-ipsilesional-end-effector-kinematics-in-a-multi-step-activity-of-daily-living
#8
Philipp Gulde, Charmayne Mary Lee Hughes, Joachim Hermsdörfer
Background: Stroke frequently impairs activities of daily living (ADL) and deteriorates the function of the contra- as well as the ipsilesional limbs. In order to analyze alterations of higher motor control unaffected by paresis or sensory loss, the kinematics of ipsilesional upper limb movements in patients with stroke has previously been analyzed during prehensile movements and simple tool use actions. By contrast, motion recording of multi-step ADL is rare and patient-control comparisons for movement kinematics are largely lacking...
2017: Frontiers in Human Neuroscience
https://www.readbyqxmd.com/read/28223428/periprocedural-outcomes-and-early-safety-with-the-use-of-the-pipeline-flex-embolization-device-with-shield-technology-for-unruptured-intracranial-aneurysms-preliminary-results-from-a-prospective-clinical-study
#9
Mario Martínez-Galdámez, Saleh M Lamin, Konstantinos G Lagios, Thomas Liebig, Elisa F Ciceri, Rene Chapot, Luc Stockx, Swarupsinh Chavda, Christoph Kabbasch, Giuseppe Farago, Hannes Nordmeyer, Thierry Boulanger, Mariangela Piano, Edoardo P Boccardi
BACKGROUND AND PURPOSE: The Pipeline Embolization Device (PED) has become a routine first-line option for treatment of intracranial aneurysms (IAs). We assessed the early safety and technical success of a new version of PED, Pipeline Flex Embolization Device with Shield Technology (Pipeline Shield), which has the same design and configuration but has been modified to include a surface synthetic biocompatible polymer. MATERIALS AND METHODS: The Pipeline Flex Embolization Device with Shield Technology (PFLEX) study is a prospective, single-arm, multicenter study for the treatment of unruptured IAs using Pipeline Shield...
February 20, 2017: Journal of Neurointerventional Surgery
https://www.readbyqxmd.com/read/28222766/increased-cortical-lesion-load-and-intrathecal-inflammation-is-associated-with-oligoclonal-bands-in-multiple-sclerosis-patients-a-combined-csf-and-mri-study
#10
Gabriele Farina, Roberta Magliozzi, Marco Pitteri, Richard Reynolds, Stefania Rossi, Alberto Gajofatto, Maria Donata Benedetti, Francesco Facchiano, Salvatore Monaco, Massimiliano Calabrese
BACKGROUND: Although IgG oligoclonal bands (OCBs) in the cerebrospinal fluid (CSF) are a frequent phenomenon in multiple sclerosis (MS) patients, their relationship with grey matter lesions, intrathecal/meningeal inflammation and clinical evolution has not been clarified yet. The aim of our study was to assess the relationship between the OCBs, the inflammatory/neurodegenerative CSF profile at diagnosis, the cortical lesion load and the clinical evolution after 10 years. METHODS: This is a 10-year observational, cross-sectional study based on a combined MRI, cognitive and CSF profiling of the examined patients...
February 21, 2017: Journal of Neuroinflammation
https://www.readbyqxmd.com/read/28222370/increased-postural-sway-in-persons-with-multiple-sclerosis-during-short-term-exposure-to-warm-ambient-temperatures
#11
Paula Y S Poh, Amy N Adams, Mu Huang, Dustin R Allen, Scott L Davis, Anna S Tseng, Craig G Crandall
BACKGROUND: Multiple sclerosis (MS) is a neurological disease marked by demyelination and axonal loss. Individuals with MS experience increases in clinical signs and symptoms during heat exposure. OBJECTIVE: To test the hypothesis that moderate heat exposure adversely affects postural sway in individuals with MS. METHODS: Ten individuals with relapsing-remitting MS (50±8y) and nine controls (47±10y) were examined under a Thermal and a Time Control trial...
February 8, 2017: Gait & Posture
https://www.readbyqxmd.com/read/28221302/diagnostic-criteria-for-small-fiber-neuropathy
#12
Derrick Blackmore, Zaeem A Siddiqi
OBJECTIVES: Despite its relative common occurrence, definitive diagnosis of small fiber neuropathy (SFN) remains problematic. In practice, patients with pain, numbness, and/or paresthesias in their lower limbs are diagnosed with SFN if found to have dissociated sensory loss in their feet, that is, impaired pinprick perception (PP) but relatively preserved vibration. We sought to assess the sensitivity and specificity of clinical examination and various diagnostic tools available for screening SFN...
March 2017: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/28220079/muro-neuro-urodynamics-a-review-of-the-functional-assessment-of-mouse-lower-urinary-tract-function
#13
REVIEW
Hiroki Ito, Anthony E Pickering, Yasuhiko Igawa, Anthony J Kanai, Christopher H Fry, Marcus J Drake
Background: Mouse urodynamic tests are fundamental to understanding normal lower urinary tract (LUT) function. These experiments also contribute to our understanding of neurological dysfunction, pathophysiological processes, and potential mechanisms of therapy. Objectives: Systematic assessment of published evidence on urodynamics, advantages and limitations of different urodynamic measurements in mice, and consideration of potential implications for the clinical field. Methods: A search using specific search-terms for urodynamic studies and mice was conducted on PubMed (from inception to 1 July 2016)...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/28219154/-human-enterovirus-infection-status-and-clinical-characteristics-of-274-patients-with-viral-encephalitis-in-henan-province-2011-2012
#14
H X Ma, J J Pan, Y Li, K Kang, X Y Huang, A G You, B L Xu
Objective: To investigate human enterovirus (HEV) infection and clinical characteristics of viral encephalitis patients in Pingdingshan, Henan Province. Methods: Cerebrospinal fluid specimens and epidemiological information were collected from 274 viral encephalitis patients in the departments of pediatrics and neurology in hospitals in Pingdingshan, Henan Province, from April 2011 to August 2012. Patients with bacterial infections were excluded from the study. Demographic information was collected by questionnaires and clinical information was mainly obtained from hospital examinations...
February 6, 2017: Zhonghua Yu Fang Yi Xue za Zhi [Chinese Journal of Preventive Medicine]
https://www.readbyqxmd.com/read/28218798/shear-wave-elastography-imaging-for-the-features-of-symptomatic-carotid-plaques-a-feasibility-study
#15
Zhe Lou, Jun Yang, Li Tang, Youhe Jin, Jinsong Zhang, Chao Liu, Qiaobei Li
OBJECTIVES: Shear wave elastography (SWE) was performed to evaluate the Young's modulus of carotid plaques in patients presenting with cerebrovascular incidents, to estimate the clinical value and feasibility of this approach. METHODS: Sixty-one patients (mean age, 65 years; 45 men) underwent common duplex ultrasonic examination and SWE evaluation. The patients were divided into the symptomatic and asymptomatic groups based on the presence of unilateral focal neurological symptoms...
February 20, 2017: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/28217440/rapidly-progressive-cognitive-impairment-with-neuropsychiatric-symptoms-as-the-initial-manifestation-of-status-epilepticus
#16
Jorge A Mutis, Jesús H Rodríguez, Mauricio O Nava-Mesa
The purpose of this article is to describe the clinical and electroencephalographic features of patients diagnosed with non-convulsive status epilepticus (NCSE) with uncommon cognitive and behavioral involvement. We present two cases with sub-acute cognitive impairment and neuropsychiatric disorders (including anxiety and transient behavioral changes) as their first manifestation of NCSE. A neuropsychological profile demonstrated executive dysfunction. In addition, the neurological examination revealed automatisms and 24-hour video EEG showed epileptiform activity...
2017: Epilepsy & Behavior Case Reports
https://www.readbyqxmd.com/read/28217169/psychiatric-presentation-of-childhood-epilepsy-case-series-and-review
#17
Rahul Saha, M K Srivastava, Kuljeet Singh Anand
Childhood-onset epilepsy has a varied presentation and may have different etiological factors. A multiaxial diagnostic approach should be used before making treatment and management decisions for any individual patient. It is widely accepted that distinction among primary psychiatric disorders, epilepsy, and nonepileptic seizures is a challenge for physicians. This case series demonstrated the identification of three atypical presentations of seizures in children on the basis of detailed history taking and electroencephalogram findings, despite having normal findings in neurological examination and magnetic resonance imaging...
October 2016: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/28217155/acute-bulbar-palsy-plus-syndrome-a-rare-variant-of-guillain-barre-syndrome
#18
Sanghamitra Ray, Prakash Chand Jain
Guillain-Barre syndrome (GBS) is the most common cause of acute flaccid paralysis worldwide both in adult and pediatric population. Although flaccid paralysis is the hallmark of this disease, there are some rare variants which may be easily missed unless suspected. Here, we present a very rare variant of GBS - acute bulbar palsy plus syndrome in a pediatric patient. A 13-year-old female child presented with right-sided lower motor neuron type of facial palsy and palsy of bilateral glossopharyngeal and vagus nerve of 2 weeks duration...
October 2016: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/28217089/differential-modulation-of-rhythmic-brain-activity-in-healthy-adults-by-a-t-type-calcium-channel-blocker-an-meg-study
#19
Kerry D Walton, Emeline L Maillet, John Garcia, Timothy Cardozo, Isaac Galatzer-Levy, Rodolfo R Llinás
1-octanol is a therapeutic candidate for disorders involving the abnormal activation of the T-type calcium current since it blocks this current specifically. Such disorders include essential tremor and a group of neurological and psychiatric disorders resulting from thalamocortical dysrhythmia (TCD). For example, clinically, the observable phenotype in essential tremor is the tremor itself. The differential diagnostic of TCD is not based only on clinical signs and symptoms. Rather, TCD incorporates an electromagnetic biomarker, the presence of abnormal thalamocortical low frequency brain oscillations...
2017: Frontiers in Human Neuroscience
https://www.readbyqxmd.com/read/28216400/mri-prognostication-factors-in-the-setting-of-cervical-spinal-cord-injury-secondary-to-trauma
#20
Rafael Martínez-Pérez, Santiago Cepeda, Igor Paredes, Jose F Alen, Alfonso Lagares
BACKGROUND: and Purpose: Several studies have looked for an association between radiological findings and neurological outcome after cervical trauma. In the current literature, there is a paucity of evidence proving the prognostic role of soft tissue damage or bony integrity. Our objective is to determine radiological findings related to neurological prognosis in patients after incomplete acute traumatic cervical spinal cord injury, regardless of initial neurological exam. MATERIAL AND METHODS: We retrospectively reviewed patients with acute traumatic cervical Spinal Cord Injury who had an MRI performed within the first 96 hours...
February 16, 2017: World Neurosurgery
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