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https://www.readbyqxmd.com/read/28214652/unilateral-oculomotor-palsy-in-charcot-marie-tooth-disease-1a-cmt-1a
#1
A Posa, A Emmer, M E Kornhuber
BACKGROUND: Charcot-Marie-Tooth disease (CMT) type 1A is the most common form of CMT 1 and one of the autosomal dominant demyelinating hereditary motor and sensory neuropathies (HMSN). Cranial nerves may be frequently subclinically affected in CMT disease. However manifest clinical signs of cranial nerve involvement are rare. METHODS: This case comprise neurological, ophthalmological, internal medicine and ear-nose-throat investigation, motor and sensory nerve conduction velocity, auditory evoked potentials and orbicularis-oculi reflex measurements, lumbar puncture and blood examination, inclusive molecular genetic testing, as well as electrocardiogram and cranial imaging such as computer tomography and magnetic resonance imaging RESULTS: The present case shows a Charcot-Marie-Tooth (CMT) 1A patient with complete unilateral oculomotor palsy in combination with predominant ipsilateral subclinical trigeminal demyelination...
February 13, 2017: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/28214264/identification-of-candidate-cerebrospinal-fluid-biomarkers-in-parkinsonism-using-quantitative-proteomics
#2
N K Magdalinou, A J Noyce, R Pinto, E Lindstrom, J Holmén-Larsson, M Holtta, K Blennow, H R Morris, T Skillbäck, T T Warner, A J Lees, I Pike, M Ward, H Zetterberg, J Gobom
INTRODUCTION: Neurodegenerative parkinsonian syndromes have significant clinical and pathological overlap, making early diagnosis difficult. Cerebrospinal fluid (CSF) biomarkers may aid the differentiation of these disorders, but other than α-synuclein and neurofilament light chain protein, which have limited diagnostic power, specific protein biomarkers remain elusive. OBJECTIVES: To study disease mechanisms and identify possible CSF diagnostic biomarkers through discovery proteomics, which discriminate parkinsonian syndromes from healthy controls...
January 31, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28213754/low-energy-availability-menstrual-dysfunction-and-low-bone-mineral-density-in-individuals-with-a-disability-implications-for-the-para-athlete-population
#3
REVIEW
Cheri A Blauwet, Emily M Brook, Adam S Tenforde, Elizabeth Broad, Caroline H Hu, Eliza Abdu-Glass, Elizabeth G Matzkin
Low energy availability, functional hypothalamic amenorrhea, and low bone mineral density are three interrelated conditions described in athletic women. Although described as the female athlete triad (Triad), males experience similar health concerns. The literature suggests that individuals with a disability may experience altered physiology related to these three conditions when compared with the able-bodied population. The goal of this review is to describe the unique implications of low energy availability, low bone mineral density, and, in females, menstrual dysfunction in individuals with a disability and their potential impact on the para athlete population...
February 17, 2017: Sports Medicine
https://www.readbyqxmd.com/read/28213087/a-rare-case-of-bruns-syndrome-with-bilateral-superior-oblique-palsy-and-dorsal-midbrain-syndrome
#4
Rebika Dhiman, Medha Sharma, Anin Sethi, Sanjay Sharma, Atin Kumar, Rohit Saxena
We report a case of an 11-year-old boy referred for evaluation of esotropia associated with a 4-year history of intermittent headaches and vomiting triggered by sudden movements, such as sneezing and coughing. Magnetic resonance imaging (MRI) performed 3 years previously was reported to be normal. A thorough clinical examination revealed the clinical features of Dorsal midbrain syndrome with Bruns syndrome and bilateral superior oblique palsy. Advanced MRI sequences revealed a freely mobile intraventricular cysticercus causing obstructive panhydrocephalus...
February 14, 2017: Journal of AAPOS: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/28211985/a-girl-with-developmental-delay-ataxia-cranial-nerve-palsies-severe-respiratory-problems-in-infancy-expanding-ndst1-syndrome
#5
Linlea Armstrong, Maja Tarailo-Graovac, Graham Sinclair, Kimberly I Seath, Wyeth W Wasserman, Colin J Ross, Clara D M van Karnebeek
NDST1 encodes an enzyme involved in the first steps in the synthesis of heparan sulfate chains, proteoglycans that are regulators found on the cell surface and in the extracellular matrix. Eight individuals homozygous for one of four family-specific missense mutations in the sulfotransferase domain of the enzyme have been described. They have intellectual disability. Some additionally had hypotonia, ataxia. seizures, and/or short stature, but none had history of respiratory problems. No humans with homozygous null mutations are known...
March 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28211317/primary-human-cytomegalovirus-hcmv-infection-in-pregnancy
#6
Horst Buxmann, Klaus Hamprecht, Matthias Meyer-Wittkopf, Klaus Friese
BACKGROUND: In 0.5-4% of pregnancies, the prospective mother sustains a primary infection with human cytomegalovirus (HCMV). An HCMV infection of the fetus in the first or second trimester can cause complex post-encephalitic impairment of the infant brain, leading to motor and mental retardation, cerebral palsy, epilepsy, retinal defects, and progressive hearing loss. METHODS: This review is based on pertinent publications from January 2000 to October 2016 that were retrieved by a selective search in PubMed employing the terms "cytomegalovirus and pregnancy" and "congenital cytomegalovirus...
January 27, 2017: Deutsches Ärzteblatt International
https://www.readbyqxmd.com/read/28211240/phenotypic-spectrum-of-charcot-marie-tooth-disease-due-to-litaf-simple-mutations-a-study-of-18-patients
#7
R Guimarães-Costa, R Iancu Ferfoglia, S Leonard-Louis, F Ziegler, L Magy, E Fournier, O Dubourg, P Bouche, T Maisonobe, A Lacour, A Moerman, P Latour, T Stojkovic
BACKGROUND AND PURPOSE: Charcot-Marie-Tooth (CMT) 1C due to mutations in LITAF/SIMPLE is a rare subtype amongst the autosomal dominant demyelinating forms of CMT. Our objective was to report the clinical and electrophysiological characteristics of 18 CMT1C patients and compare them to 20 patients with PMP22 mutations: 10 CMT1A patients and 10 patients with hereditary neuropathy with liability to pressure palsies (HNPP). METHODS: Charcot-Marie-Tooth 1C patients were followed-up in referral centres for neuromuscular diseases or were identified by familial survey...
March 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28210639/an-interesting-case-of-tolosa-hunt-syndrome-in-a-young-male
#8
Ghulam Murtaza, Nicholas Konowitz, Hannah Lu, Anadil Faqah, Aneesh Kuruvilla
Tolosa-Hunt syndrome is a rare disease with a limited number of cases reported in the literature. It typically presents with orbital pain associated with palsy of the third, fourth, or sixth cranial nerve. We present an interesting case of Tolosa-Hunt syndrome in a young male who responded well to high-dose steroids and in a few days had significant improvement in his retro-orbital pain and ocular movements.
January 2017: Journal of Investigative Medicine High Impact Case Reports
https://www.readbyqxmd.com/read/28210514/hemorrhagic-colloid-cyst-presenting-with-acute-hydrocephaly
#9
Reza Akhavan, Behrouz Zandi, Masoud Pezeshki-Rad, Donya Farrokh, Bita Abbasi
Colloid cysts are benign slow-growing cystic lesions located on the roof of the third ventricle that usually present with symptoms related to gradual rise of intracranial pressure. They mostly remain asymptomatic and sometimes grow progressively and cause diverse symptoms associated with increased intracranial pressure such as headache, diplopia, and sixth cranial nerve palsy. Here we report a 47-year-old female who presented to the emergency department with acute severe headache and nausea/vomiting. On MRI examination acute hydrocephaly due to hemorrhagic colloid cyst was detected...
2017: Case Reports in Neurological Medicine
https://www.readbyqxmd.com/read/28210028/a-preliminary-study-of-the-measurement-of-overload-applied-to-the-foot-support-of-a-wheelchair-and-a-seated-postural-support-device
#10
Satoshi Shirogane, Takashi Handa, Yoshihiko Kozai, Yusuke Maeda
[Purpose] The mechanical strength of wheelchair and seating products is specified by standards to ensure user safety. However, some individual users are affected by severe spasticity resulting from cerebral palsy that occasionally breaks such devices. Until recently, reports of quantitative measurement of these mechanical overloads have been scarce, and the exact loads applied have been unknown. This study aimed to conduct a sampling survey prior to conducting a future full-scale study. [Subjects and Methods] Using two force plates, we measured the load on the foot support applied by three participants with cerebral palsy...
January 2017: Journal of Physical Therapy Science
https://www.readbyqxmd.com/read/28209769/seizures-in-children-with-cerebral-palsy-and-white-matter-injury
#11
Monica S Cooper, Mark T Mackay, Michael Fahey, Dinah Reddihough, Susan M Reid, Katrina Williams, A Simon Harvey
OBJECTIVE: The goal of this study was to describe the prevalence, syndromes, and evolution of seizure disorders in children with cerebral palsy (CP) due to white matter injury (WMI). METHODS: For this population-based cohort study, brain MRI scans and medical records were reviewed in children in the Victorian Cerebral Palsy Register born between 1999 and 2006 recorded as having WMI. Children were excluded if they had features of an undiagnosed syndrome, associated cortical malformation or injury, or no medical contact in the preceding year...
February 16, 2017: Pediatrics
https://www.readbyqxmd.com/read/28209520/deconstructing-empathy-neuroanatomical-dissociations-between-affect-sharing-and-prosocial-motivation-using-a-patient-lesion-model
#12
Suzanne M Shdo, Kamalini G Ranasinghe, Kelly A Gola, Clinton J Mielke, Paul V Sukhanov, Bruce L Miller, Katherine P Rankin
Affect sharing and prosocial motivation are integral parts of empathy that are conceptually and mechanistically distinct. We used a neurodegenerative disease (NDG) lesion model to more directly examine the neural correlates of these two aspects of real-world empathic responding. The study enrolled 275 participants, including 44 healthy older controls and 231 patients diagnosed with one of five neurodegenerative diseases (75 Alzheimer's disease, 58 behavioral variant frontotemporal dementia (bvFTD), 42 semantic variant primary progressive aphasia (svPPA), 28 progressive supranuclear palsy, and 28 non-fluent variant (nfvPPA)...
February 13, 2017: Neuropsychologia
https://www.readbyqxmd.com/read/28208966/study-of-parental-perceptions-on-health-social-needs-of-children-with-neuro-developmental-disability-and-it-s-impact-on-the-family
#13
Nusrat Jahan Rafique Ansari, Ramchandra Keshav Dhongade, Preeti Sagar Lad, Ashwin Borade, Suvarna Yg, Vishal Yadav, Ashwini Mehetre, Rahul Kulkarni
INTRODUCTION: The term Neuro Developmental Disorder (NDD) is used for conditions caused by a dysfunction in any part of the brain or nervous system, resulting in physical and/or psychological symptoms as a child develops. Family of children with NDD face many problems. It is very important to find them and create awareness so that gaps in essential services and supports can be decreased. AIM: To explore parental perceptions on health & social needs of children with NDD, to understand the impact of disability on the families having children with disability, and to find out the parental perceptions on availability of services for children with NDD and its utilization by families...
December 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28208948/abducens-nerve-palsy-in-pregnancy-a-case-report
#14
Sayedeh Reyhaneh Yousefi, Shokrollah Zandi
Headache, blurring of vision and confusion are neurologic symptoms of preeclampsia. Whereas abducens nerve palsy during pregnancy is an extremely rare condition, we report here a 40-year-old patient with diplopia, blurring of vision and abducens nerve palsy in the 39(th) week of pregnancy with history of hypertension (HTN). No specific pathology was found. Symptoms of abducens nerve palsy were resolved spontaneously by controlling blood pressure after delivery.
December 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28208891/outcomes-of-capsular-dissection-technique-with-use-of-bipolar-electrocautery-in-total-thyroidectomy-a-rural-tertiary-center-experience
#15
Amal T Das, S B Prakash, V Priyadarshini
INTRODUCTION: Total thyroidectomy is one of the most routinely performed head and neck surgical procedures with extremely low mortality. This procedure has been associated with two major complications such as recurrent laryngeal nerve injury and hypocalcaemia due to parathyroid insufficiency. The use of bipolar electrocautery has not been widely accepted in view of thermal damage to adjacent structures. AIM: To study the outcomes and complications of capsular dissection technique along with use of bipolar electrocautery in total thyroidectomy...
December 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28207803/side-effects-induced-by-the-acute-levodopa-challenge-in-parkinson-s-disease-and-atypical-parkinsonisms
#16
Rosario Vasta, Alessandra Nicoletti, Giovanni Mostile, Valeria Dibilio, Giorgia Sciacca, Donatella Contrafatto, Calogero Edoardo Cicero, Loredana Raciti, Antonina Luca, Mario Zappia
INTRODUCTION: Acute levodopa challenge may be performed to predict levodopa chronic responsiveness. The aim of the study was to investigate frequency of side effects during the acute levodopa challenge in PD and atypical parkinsonisms. METHODS: We enrolled 34 de novo PD patients and 29 patients affected by atypical parkinsonisms (Multiple System Atrophy, MSA, n = 10; Progressive Supranuclear Palsy, PSP, n = 12 and Corticobasal Degeneration, CBD, n = 7) who underwent an acute levodopa challenge...
2017: PloS One
https://www.readbyqxmd.com/read/28204774/effect-of-biomechanical-constraints-on-neural-control-of-head-stability-in-children-with-moderate-to-severe-cerebral-palsy
#17
Carolina Souza Neves da Costa, Sandra L Saavedra, Nelci Adriana Cicuto Ferreira Rocha, Marjorie H Woollacott
No abstract text is available yet for this article.
October 6, 2016: Physical Therapy
https://www.readbyqxmd.com/read/28203648/gene-regulatory-effects-of-disease-associated-variation-in-the-nrf2-network
#18
Sarah E Lacher, Matthew Slattery
Reactive oxygen species (ROS), which are both a natural byproduct of oxidative metabolism and an undesirable byproduct of many environmental stressors, can damage all classes of cellular macromolecules and promote diseases from cancer to neurodegeneration. The actions of ROS are mitigated by the transcription factor NRF2, which regulates expression of antioxidant genes via its interaction with cis-regulatory antioxidant response elements (AREs). However, despite the seemingly straightforward relationship between the opposing forces of ROS and NRF2, regulatory precision in the NRF2 network is essential...
December 2016: Curr Opin Toxicol
https://www.readbyqxmd.com/read/28202036/kinesthetic-deficits-after-perinatal-stroke-robotic-measurement-in-hemiparetic-children
#19
Andrea M Kuczynski, Jennifer A Semrau, Adam Kirton, Sean P Dukelow
BACKGROUND: While sensory dysfunction is common in children with hemiparetic cerebral palsy (CP) secondary to perinatal stroke, it is an understudied contributor to disability with limited objective measurement tools. Robotic technology offers the potential to objectively measure complex sensorimotor function but has been understudied in perinatal stroke. The present study aimed to quantify kinesthetic deficits in hemiparetic children with perinatal stroke and determine their association with clinical function...
February 15, 2017: Journal of Neuroengineering and Rehabilitation
https://www.readbyqxmd.com/read/28197774/popliteal-block-for-lower-limb-surgery-in-children-with-cerebral-palsy-effect-on-sevoflurane-consumption-and-postoperative-pain-a-randomized-double-blinded-controlled-trial
#20
Derya Ozkan, Emel Gonen, Taylan Akkaya, Mesut Bakir
PURPOSE: The aim of this study was to evaluate the effects of a preoperative popliteal block on sevoflurane consumption, postoperative pain, and analgesic consumption in children with cerebral palsy (CP) following lower limb surgery. METHODS: Fifty-four patients undergoing lower limb surgery were randomized to receive either a popliteal block + general anaesthesia (group P, n = 27) or general anaesthesia without a popliteal block (group C, n = 27). After anesthesia induction with 50% N2O, O2, and 8% sevoflurane, a popliteal block was given to group P patients with ultrasound guidance as a single dose of 0...
February 14, 2017: Journal of Anesthesia
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