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https://www.readbyqxmd.com/read/27908060/individual-differences-in-the-perception-of-regional-nonnative-and-disordered-speech-varieties
#1
Tessa Bent, Melissa Baese-Berk, Stephanie A Borrie, Megan McKee
Speech perception abilities vary substantially across listeners, particularly in adverse conditions including those stemming from environmental degradation (e.g., noise) or from talker-related challenges (e.g., nonnative or disordered speech). This study examined adult listeners' recognition of words in phrases produced by six talkers representing three speech varieties: a nonnative accent (Spanish-accented English), a regional dialect (Irish English), and a disordered variety (ataxic dysarthria). Semantically anomalous phrases from these talkers were presented in a transcription task and intelligibility scores, percent words correct, were compared across the three speech varieties...
November 2016: Journal of the Acoustical Society of America
https://www.readbyqxmd.com/read/27899786/-a-case-of-an-abdominal-desmoplastic-small-round-cell-tumor-with-metastasis-in-the-medulla-oblongata
#2
Ayaka Azami, Yoshinao Takano, Michitaka Honda, Yukitoshi Todate, Takeshi Tada, Mitsuru Waragai, Daizo Fukushima, Nobuyasu Suzuki, Atai Sato, Tsuyoshi Abe, Yasushi Teranishi, Hideo Sakuma
A desmoplastic small round cell tumor(DSRCT)is a very rare malignant tumor that mainly occurs in the intra-abdominal cavity in young adults.This neoplasm has an extremely poor prognosis, with a clinical course characterized by rapid progression and metastasis.We present a 31-year-old man who presented with chief complaints of dysphagia, ataxic gait, and hoarseness.He first underwent surgical resection of a tumor in the medulla oblongata; however, the lesion was suspected to be a metastatic neoplasm.Following a thorough medical examination, the patient was diagnosed with retroperitoneal DSRCT with multiple metastatic lesions...
November 2016: Gan to Kagaku Ryoho. Cancer & Chemotherapy
https://www.readbyqxmd.com/read/27884168/ataxia-telangiectasia-a-review
#3
REVIEW
Cynthia Rothblum-Oviatt, Jennifer Wright, Maureen A Lefton-Greif, Sharon A McGrath-Morrow, Thomas O Crawford, Howard M Lederman
DEFINITION OF THE DISEASE: Ataxia telangiectasia (A-T) is an autosomal recessive disorder primarily characterized by cerebellar degeneration, telangiectasia, immunodeficiency, cancer susceptibility and radiation sensitivity. A-T is often referred to as a genome instability or DNA damage response syndrome. EPIDEMIOLOGY: The world-wide prevalence of A-T is estimated to be between 1 in 40,000 and 1 in 100,000 live births. CLINICAL DESCRIPTION: A-T is a complex disorder with substantial variability in the severity of features between affected individuals, and at different ages...
November 25, 2016: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/27876002/sporadic-creutzfeldt-jakob-disease-with-unusual-initial-presentation-as-posterior-reversible-encephalopathy-syndrome-a-case-report
#4
Edgaras Dirzius, Renata Balnyte, Vesta Steibliene, Rymante Gleizniene, Inga Gudinaviciene, Andrius Radziunas, Kestutis Petrikonis
BACKGROUND: Creutzfeldt - Jakob disease (CJD) is a rapidly progressive and fatal neurodegenerative prion disease. MRI findings are included in diagnostic criteria for probable CJD, giving a sensitivity and specificity more than 90%, but the atypical radiological presentations in the early stage of the disease could cause the diagnostic difficulties. CJD can be definitively diagnosed by histopathological confirmation, brain biopsy or at autopsy. CASE PRESENTATION: We present a case of 53-year-old woman with a history of a rapidly progressive dementia with symptoms of visual impairment, increased extrapyramidal type muscle tonus, stereotypical movements and ataxic gait resulting in the patient's death after13 months...
November 22, 2016: BMC Neurology
https://www.readbyqxmd.com/read/27862279/pet-and-mri-detection-of-early-and-progressive-neurodegeneration-in-spinocerebellar-ataxia-type-36
#5
Pablo Aguiar, Julio Pardo, Manuel Arias, Beatriz Quintáns, Montse Fernández-Prieto, Rocío Martínez-Regueiro, José-Manuel Pumar, Jesús Silva-Rodríguez, Álvaro Ruibal, María-Jesús Sobrido, Julia Cortés
BACKGROUND: The spinocerebellar ataxias (SCAs) form a clinically, genetically, and pathological heterogeneous group of autosomal-dominant degenerative diseases. In particular, SCA36 is characterized by a late-onset, slowly progressive cerebellar syndrome typically associated with sensorineural hearing loss. This study was aimed at analyzing the neurodegenerative process underlying SCA36 through fluorodeoxyglucose positron emission tomography (FDG-PET) and MRI scans. METHODS: Twenty SCA36 patients underwent a study consisting of FDG-PET and MRI scans...
November 10, 2016: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/27860360/homozygous-variants-in-pyrroline-5-carboxylate-reductase-2-pycr2-in-patients-with-progressive-microcephaly-and-hypomyelinating-leukodystrophy
#6
Linyan Meng, Taraka Donti, Fan Xia, Zhiyv Niu, Aisha Al Shamsi, Jozef Hertecant, Fatma Al-Jasmi, James B Gibson, Honey Nagakura, Jing Zhang, Weimin He, Christine Eng, Yaping Yang, Sarah H Elsea
Pyrroline-5-carboxylate reductase 2, encoded by PYCR2, is one of the three homologous enzymes that catalyze the last step of proline synthesis. Homozygous variants in PYCR2 have been reported in patients from multiple consanguineous families with hypomyelinating leukodystrophy 10 (HLD10) (MIM: 616420). Here, we report five additional patients from three families with homozygous nonsense or missense variants in PYCR2, identified through clinical exome sequencing. All patients presented with postnatally acquired microcephaly, moderate to profound global developmental delay, and failure to thrive...
November 11, 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27853421/transient-developmental-purkinje-cell-axonal-torpedoes-in-healthy-and-ataxic-mouse-cerebellum
#7
Lovisa Ljungberg, Daneck Lang-Ouellette, Angela Yang, Sriram Jayabal, Sabrina Quilez, Alanna J Watt
Information is carried out of the cerebellar cortical microcircuit via action potentials propagated along Purkinje cell axons. In several human neurodegenerative diseases, focal axonal swellings on Purkinje cells - known as torpedoes - have been associated with Purkinje cell loss. Interestingly, torpedoes are also reported to appear transiently during development in rat cerebellum. The function of Purkinje cell axonal torpedoes in health as well as in disease is poorly understood. We investigated the properties of developmental torpedoes in the postnatal mouse cerebellum of wild-type and transgenic mice...
2016: Frontiers in Cellular Neuroscience
https://www.readbyqxmd.com/read/27830516/natural-history-of-spinocerebellar-ataxia-type-31-a-4-year-prospective-study
#8
Katsuya Nakamura, Kunihiro Yoshida, Akira Matsushima, Yusaku Shimizu, Shunichi Sato, Hiroyuki Yahikozawa, Shinji Ohara, Masanobu Yazawa, Masao Ushiyama, Mitsuto Sato, Hiroshi Morita, Atsushi Inoue, Shu-Ichi Ikeda
Spinocerebellar ataxia type 31 (SCA31) is known as a late-onset, relatively pure cerebellar form of ataxia, but a longitudinal prospective study on the natural history of SCA31 has not been done yet. In this prospective cohort study, we enrolled 44 patients (mean ± standard deviation 73.6 ± 8.5 years) with genetically confirmed SCA31 from 10 ataxia referral centers in the Nagano area, Japan. Patients were evaluated every year for 4 years using the Scale for the Assessment and Rating of Ataxia (SARA) and the Barthel Index (BI)...
November 9, 2016: Cerebellum
https://www.readbyqxmd.com/read/27821907/alteration-of-microrna-expressions-in-the-pons-and-medulla-in-rats-after-3-3-iminodipropionitrile-administration
#9
Keiko Ogata, Masahiko Kushida, Kaori Miyata, Kayo Sumida, Shuji Takeda, Takeshi Izawa, Mitsuru Kuwamura, Jyoji Yamate
Although 3,3'-iminodipropionitrile (IDPN) is widely used as a neurotoxicant to cause axonopathy due to accumulation of neurofilaments in several rodent models, its mechanism of neurotoxicity has not been fully understood. In particular, no information regarding microRNA (miRNA) alteration associated with IDPN is available. This study was conducted to reveal miRNA alteration related to IDPN-induced neurotoxicity. Rats were administered IDPN (20, 50, or 125 mg/kg/day) orally for 3, 7, and 14 days. Histopathological features were investigated using immunohistochemistry for neurofilaments and glial cells, and miRNA alterations were analyzed by microarray and reverse transcription polymerase chain reaction...
October 2016: Journal of Toxicologic Pathology
https://www.readbyqxmd.com/read/27821110/ocular-findings-in-patients-with-spastic-type-cerebral-palsy
#10
Myung Jin Park, Yung Ju Yoo, Chin Youb Chung, Jeong-Min Hwang
BACKGROUND: Refractive errors, strabismus, nystagmus, amblyopia, and cortical visual impairment are observed in 50 to 90 % of patients with cerebral palsy. Ocular abnormalities are known to differ according to cerebral palsy type, and spastic type has been reported to be more likely to be associated with ocular defects than the athetoid and ataxic types. METHODS: A retrospective review of medical records was performed on 105 consecutive children with spastic type of cerebral palsy who underwent ophthalmologic examination between July 2003 and March 2006...
November 8, 2016: BMC Ophthalmology
https://www.readbyqxmd.com/read/27797796/glycine-receptor-antibody-associated-epilepsy-in-a-boy-aged-4%C3%A2-years
#11
Chinwe Ude, Gautam Ambegaonkar
Our patient was a previously normal boy who presented to his local hospital with an explosive onset of prolonged seizures and encephalopathy. He was treated for a presumed central nervous system infection and initial neuroimaging was normal. Despite treatment with antibiotics and antiepileptic drugs (AEDs), he remained encephalopathic and became ataxic over the next 48 hours, not related to medication. The seizures also proved resistant to treatment despite polytherapy with AEDs, and he required immune-modulatory treatment, intravenous methylprednisolone and intravenous immunoglobulin, in addition to the AEDs to achieve seizure control...
October 19, 2016: BMJ Case Reports
https://www.readbyqxmd.com/read/27794631/effects-of-different-exercise-modalities-on-ataxia-in-multiple-sclerosis-patients-a-randomized-controlled-study
#12
Yeliz Salcı, Ayla Fil, Kadriye Armutlu, F Gökçem Yildiz, Aslı Kurne, Songül Aksoy, Gülay Nurlu, Rana Karabudak
PURPOSE: To investigate the effects of different exercise protocols on ataxia in patients with multiple sclerosis (MS). METHOD: A total of 42 MS patients, 17 male and 25 female (Expanded Disability Status Scale (EDSS): 3-5), were enrolled in this randomized controlled study. The patients were divided into three groups: a balance training (BT) group, a lumbar stabilization (LS) group and a task-oriented training (TT) group. All groups received balance training; additionally, the LS group received lumbar stabilization exercises, and the TT group received task-oriented training...
October 29, 2016: Disability and Rehabilitation
https://www.readbyqxmd.com/read/27785699/cerebellar-involvement-in-patients-with-mild-to-moderate-myoclonus-due-to-epm1-structural-and-functional-mri-findings-in-comparison-with-healthy-controls-and-ataxic-patients
#13
Anna Nigri, Elisa Visani, Nicola Bertolino, Lorenzo Nanetti, Caterina Mariotti, Marta Panzeri, Maria Grazia Bruzzone, Silvana Franceschetti, Laura Canafoglia
EPM1 (epilepsy, progressive myoclonic 1; Unverricht-Lundborg disease, OMIM #254800) is the most frequent form of progressive myoclonus epilepsy. Previous findings have suggested that its pathophysiology mainly involves the cerebellum, but the evaluation of cerebellar dysfunction is still unsatisfactory. The aim of this study was to assess the structural and functional involvement of the cerebellum in EPM1. We used voxel-based morphometry and spatially unbiased infra-tentorial template analyses of structural magnetic resonance imaging (MRI) scans, and functional MRI (fMRI) scans during block and event-related go/no-go motor tasks to study 13 EPM1 patients with mild to moderate myoclonus...
October 26, 2016: Brain Topography
https://www.readbyqxmd.com/read/27761229/neurosyphilis-with-normal-pressure-hydrocephalus-and-dementia-paralytica-serial-clinical-laboratory-and-radiological-correlations-in-the-21st-century
#14
Kamille Abdool, Karan Seegobin, Kanterpersad Ramcharan, Adrian Alexander, Leandra Julien-Legen, Stanley Lawrence Giddings, Samuel Aboh, Fidel Rampersad
We report a case of a 46-year-old man presenting with a progressive cognitive decline, ataxic gait, urinary incontinence for 4 months and neuroimaging consistent with normal pressure hydrocephalus. The atypical presentation of a progressively worsening dysphasia and a right hemiparesis dismissed as a vascular event 1 month earlier associated with normal pressure hydrocephalus prompted further investigations confirming neurosyphilis also manifesting as dementia paralytica. Treatment using consensus guidelines led to resumption of activities of daily living...
September 30, 2016: Neurology International
https://www.readbyqxmd.com/read/27751425/molecular-cytogenetic-characterization-of-an-inv-dup-15-chromosome-presenting-as-a-small-supernumerary-marker-chromosome-associated-with-the-inv-dup-15-syndrome
#15
Chih-Ping Chen, Shuan-Pei Lin, Schu-Rern Chern, Peih-Shan Wu, Yen-Ni Chen, Shin-Wen Chen, Chen-Chi Lee, Dai-Dyi Town, Chien-Wen Yang, Wayseen Wang
OBJECTIVE: To present molecular cytogenetic characterization of an inverted duplication of proximal chromosome 15 [inv dup(15)] presenting as a small supernumerary marker chromosome (sSMC) associated with the inv dup(15) syndrome. CASE REPORT: A 35-year-old woman underwent amniocentesis because of advanced maternal age at 27 weeks of gestation, which revealed an sSMC that was confirmed by fluorescence in situ hybridization (FISH) to be derived from chromosome 15...
October 2016: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/27749953/advances-in-sequencing-technologies-for-understanding-hereditary-ataxias-a-review
#16
Alessandro Didonna, Puneet Opal
Importance: The hereditary progressive ataxias comprise genetic disorders that affect the cerebellum and its connections. Even though these diseases historically have been among the first familial disorders of the nervous system to have been recognized, progress in the field has been challenging because of the large number of ataxic genetic syndromes, many of which overlap in their clinical features. Observations: We have taken a historical approach to demonstrate how our knowledge of the genetic basis of ataxic disorders has come about by novel techniques in gene sequencing and bioinformatics...
October 17, 2016: JAMA Neurology
https://www.readbyqxmd.com/read/27732860/voluntary-running-triggers-vgf-mediated-oligodendrogenesis-to-prolong-the-lifespan-of-snf2h-null-ataxic-mice
#17
Matías Alvarez-Saavedra, Yves De Repentigny, Doo Yang, Ryan W O'Meara, Keqin Yan, Lukas E Hashem, Lemuel Racacho, Ilya Ioshikhes, Dennis E Bulman, Robin J Parks, Rashmi Kothary, David J Picketts
Exercise has been argued to enhance cognitive function and slow progressive neurodegenerative disease. Although exercise promotes neurogenesis, oligodendrogenesis and adaptive myelination are also significant contributors to brain repair and brain health. Nonetheless, the molecular details underlying these effects remain poorly understood. Conditional ablation of the Snf2h gene impairs cerebellar development producing mice with poor motor function, progressive ataxia, and death between postnatal days 25-45...
October 11, 2016: Cell Reports
https://www.readbyqxmd.com/read/27729749/ataxic-gait-following-total-gastrectomy-for-gastric-cancer
#18
Chang Ho Hwang, Dong Jin Park, Gyu Yeol Kim
A 58-year-old woman, who had undergone total gastrectomy for early gastric cancer 9 years previously, visited the outpatient clinic complaining of progressive difficulty in walking for 15 d. Laboratory examinations showed macrocytic anemia and a decreased serum vitamin B12 concentration and increased serum concentrations of folate, vitamin E and copper. Magnetic resonance imaging showed multifocal high signal intensities along the posterior column of the cervical and thoracic spinal cord. Treatment consisted of intramuscular injections of vitamin B12 for 7 d, which increased her serum level of vitamin B12 to normal...
October 7, 2016: World Journal of Gastroenterology: WJG
https://www.readbyqxmd.com/read/27715487/the-eponymous-legacy-of-sir-william-richard-gowers-1845-1915-a-revealing-letter
#19
Nadeem Toodayan, Christopher J Boes
The eponymous legacy of Sir William Richard Gowers (1845-1915) was the subject of a comprehensive appraisal first written for this journal late last year. Since the completion of that work, a revealing February 1903 letter has come to light recording, amongst other things, Gowers' firsthand and somewhat private opinions concerning some of his own eponymous contributions to medicine. This addendum to the primary author's original article will review and contextualize this very interesting find as it relates to Gowers' eponymous legacy...
August 11, 2016: Journal of the History of the Neurosciences
https://www.readbyqxmd.com/read/27648459/mutation-of-orthologous-prickle-genes-causes-a-similar-epilepsy-syndrome-in-flies-and-humans
#20
Salleh N Ehaideb, Elizabeth A Wignall, Junko Kasuya, William H Evans, Atulya Iyengar, Haley L Koerselman, Anthony J Lilienthal, Alexander G Bassuk, Toshihiro Kitamoto, J Robert Manak
OBJECTIVE: Genetically tractable fruit flies have been used for decades to study seizure disorders. However, there is a paucity of data specifically correlating fly and human seizure phenotypes. We have previously shown that mutation of orthologous PRICKLE genes from flies to humans produce seizures. This study aimed to determine whether the prickle-mediated seizure phenotypes in flies closely parallel the epilepsy syndrome found in PRICKLE patients. METHODS: Virtually all fly seizure studies have relied upon characterizing seizures that are evoked...
September 2016: Annals of Clinical and Translational Neurology
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