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Benedicta E Beck-Broichsitter, Jörn Huck, Thomas Küchler, Daniela Hauke, Jürgen Hedderich, Jörg Wiltfang, Stephan T Becker
PURPOSE: The extent of functional impairment after ablative surgery in the orofacial region may be directly reflected in a reduction in Quality of Life. This study intended to compare the patients' perception with an objective functional evaluation of the orofacial system in order to bilaterally distinguish direct influence factors. METHODS: A total of 45 patients were included in this study and were asked to complete the European Organisation for Research and Treatment of Cancer Core Questionnaire (EORTC QLQ-30) and the Head and Neck 35 Module (H&N 35)...
October 18, 2016: Journal of Cancer Research and Clinical Oncology
Mohammad F Aljabri, Naglaa M Kamal, Moinuddin Arif, Asrar M AlQaedi, Enas Y M Santali
BACKGROUND: Biotin-thiamine-responsive basal ganglia disease (BTRBGD) is a neurometabolic autosomal recessive (AR) disorder characterized by subacute encephalopathy with confusion, convulsions, dysarthria, and dystonia. The disease is completely reversible if treated early with biotin and thiamine, and can be fatal if left untreated.We herein present our experience with in an extended family study of an index case of BTRBGD aiming to support its AR mode of inheritance, diagnose asymptomatic and missed symptomatic cases, and provide family screening with proper genetic counseling...
October 2016: Medicine (Baltimore)
Rita Cardoso, Isabel Guimarães, Helena Santos, Rita Loureiro, Josefa Domingos, Daisy de Abreu, Nilza Gonçalves, Serge Pinto, Joaquim Ferreira
Hypokinetic dysarthria is a common symptom in those with Parkinson's disease (PD); there is currently no standardized or validated tool for assessing speech in this population. To translate into European Portuguese (EP) the FDA-2 and perform a cultural adaptation followed by an evaluation of its psychometric properties in PD in a sample of people with PD in different stages of disease progression. Translation, back-translation, experts' analysis, pre-test and final version test were performed. The EP version of the FDA-2 was administered to 80 people with PD (PwP) with dysarthria, feasibility and acceptability, reliability (internal consistency and inter-rater reliability) and validity (face and convergent) were measured...
October 17, 2016: Journal of Neurology
Jacqueline Laures-Gore, Scott Russell, Rupal Patel, Michael Frankel
BACKGROUND/AIMS: This paper describes the design and collection of a comprehensive spoken language dataset from speakers with motor speech disorders in Atlanta, Ga., USA. This collaborative project aimed to gather a spoken database consisting of nonmainstream American English speakers residing in the Southeastern US in order to provide a more diverse perspective of motor speech disorders. METHODS: Ninety-nine adults with an acquired neurogenic disorder resulting in a motor speech disorder were recruited...
October 14, 2016: Folia Phoniatrica et Logopaedica
Laszlo Szpisjak, Nora Zsindely, Jozsef I Engelhardt, Laszlo Vecsei, Gabor G Kovacs, Peter Klivenyi
AARS2 gene (NM_020745.3) mutations result in two different phenotypic diseases: infantile mitochondrial cardiomyopathy and late-onset leukoencephalopathy. The patient's first symptoms appeared at the age of 18 years with behavioral changes and psychiatric problems. Some years later, extrapyramidal symptoms, cognitive impairment, nystagmus, dysarthria and pyramidal symptoms also developed. The brain magnetic resonance imaging (MRI) indicated extensive white matter abnormalities. The diagnosis of AARS2 gene mutations causing leukodystrophy was confirmed by genetic testing...
October 13, 2016: Journal of Human Genetics
Wei Qian, Yan-Kun Zhang, Wei Lv, Ying Hou, Qian Cao, Ju-Feng Fan
OBJECTIVE: This study aimed to investigate the clinical application and efficacy of local injection of botulinum toxin A (BTX-A) at the depressor anguli oris in patients with congenital drooping mouth corner. METHODS: From September 2013 to March 2015, 36 cosmetic patients received local injections of botulinum toxin A at the depressor anguli oris, with 1-3 injection sites in the moving region of the depressor anguli oris on each side. At each injection site, 2-4 U of BTX-A was injected, and the total dose for any unilateral treatment did not exceed 8 U...
October 12, 2016: Aesthetic Plastic Surgery
Yu Wang, Zi-Yuan Liu, Wan-Chen Dou, Wen-Bin Ma, Ren-Zhi Wang, Yi Guo
<strong>Objective</strong> To explore the efficacy of target positioning by preoperative CT/MRI image fusion technique in deep brain stimulation.<strong>Methods</strong> We retrospectively analyzed the clinical data and images of 79 cases (68 with Parkinson's disease, 11 with dystonia) who received preoperative CT/MRI image fusion in target positioning of subthalamic nucleus in deep brain stimulation. Deviation of implanted electrodes from the target nucleus of each patient were measured...
September 20, 2016: Chinese Medical Sciences Journal, Chung-kuo i Hsüeh K'o Hsüeh Tsa Chih
Adolfo Ramirez-Zamora, Heather Smith, Vignessh Kumar, Julia Prusik, Sujoy Phookan, Julie G Pilitsis
BACKGROUND: Although thalamic deep brain stimulation (DBS) has been established as an effective therapy for refractory tremor in Parkinson's disease and essential tremor, reports investigating the efficacy of posterior subthalamic area (PSA) DBS for severe, debilitating tremors continue to emerge. However, questions regarding the optimal anatomical target, surgical approach, programming paradigms and effectiveness compared to other targets remain. OBJECTIVES: In this report, we aimed to review the current literature to assess different stereotactic techniques, anatomical considerations, adverse effects and stimulation settings in PSA DBS...
October 12, 2016: Stereotactic and Functional Neurosurgery
Bronwyn Carrigg, Louise Parry, Elise Baker, Lawrence D Shriberg, Kirrie J Ballard
OBJECTIVE: This study describes the phenotype in a large family with a strong, multigenerational history of severe speech sound disorder (SSD) persisting into adolescence and adulthood in approximately half the cases. Aims were to determine whether a core phenotype, broader than speech, separated persistent from resolved SSD cases; and to ascertain the uniqueness of the phenotype relative to published cases. METHOD: Eleven members of the PM family (9-55 years) were assessed across cognitive, language, literacy, speech, phonological processing, numeracy, and motor domains...
October 5, 2016: Archives of Clinical Neuropsychology: the Official Journal of the National Academy of Neuropsychologists
Anja Kuschmann, Nick Miller, Anja Lowit, Lindsay Pennington
PURPOSE: This paper examined the production of intonation patterns in children with developmental dysarthria associated with cerebral palsy (CP) prior to and after speech intervention focussing on respiration and phonation. The study further sought to establish whether intonation performance might be related to changes in speech intelligibility. METHOD: Intonation patterns were examined using connected speech samples of 15 older children with moderate to severe developmental dysarthria due to CP (9 females; age range: 11-18)...
October 5, 2016: International Journal of Speech-language Pathology
Carol A Boliek, Cynthia M Fox
PURPOSE: The aim of the present study was to validate and extend the evaluation of treatment outcomes following LSVT LOUD® in children with dysarthria secondary to cerebral palsy (CP). METHOD: Seven children (5 females, 6-10 years) with spastic quadriplegia and dysarthria received LSVT LOUD. Outcomes included: (a) quantitative and qualitative indices of communication and social functioning representing therapeutic effects and (b) features of the acoustic signal representing physiological effects on the speech mechanism...
October 5, 2016: International Journal of Speech-language Pathology
Rui Fan, Ruirui Ji, Wenxin Zou, Guoliang Wang, Hu Wang, Daniel James Penney, Jin Jun Luo, Yuxin Fan
Andersen-Tawil syndrome (ATS) is an autosomal dominant, multisystem channelopathy characterized by periodic paralysis, ventricular arrhythmias and distinctive dysmorphic facial or skeletal features. The disorder displays marked intrafamilial variability and incomplete penetrance. Myasthenia gravis (MG) is an autoimmune disorder that demonstrates progressive fatigability, in which the nicotinic acetylcholine receptor (AChR) at neuromuscular junctions is the primary autoantigen. The present study reports a rare case of a 31-year-old woman with a history of morbid obesity and periodic weakness, who presented with hemodynamic instability, cardiogenic shock and facial anomalies...
October 2016: Experimental and Therapeutic Medicine
Anita Tipirneni, Sebastian Koch, Jose G Romano, Amer M Malik
No abstract text is available yet for this article.
October 2016: Neurohospitalist
Georg Kägi, Natascha Leisi, Marian Galovic, Marlise Müller-Baumberger, Werner Krammer, Bruno Weder
BACKGROUND: Up to 50% of ischaemic stroke patients show initial dysphagia, which may persist for months. Guidelines recommend switching nasogastric (NG) to percutaneous endoscopic gastrostomy (PEG) tube feeding at the second week after the stroke if impaired deglutition is expected for another 4 weeks. Precise prognostic criteria are lacking. We hypothesised that the Parramatta Hospitals' Assessment of Dysphagia (PAHD) performed 8 to 10 days after the stroke predicts impaired deglutition for another 4 weeks...
2016: Swiss Medical Weekly
Toshiyuki Sakai, Masahide Kondo, Hidekazu Tomimoto, Yuko Yamagishi
We report a 28-year-old woman with the overlap of Fisher syndrome and pharyngeal-cervical-brachial variant of Guillain-Barré syndrome associated with urinary retention and constipation. She showed total ophthalmoplegia, dysphagia, dysarthria, upper extremity weakness, cerebellar ataxia, slightly diminished superficial sensations in her hands and feet, urinary retention and constipation 14 days after preceding infection. Laboratory data showed elevations of antiganglioside antibodies to GT1b, GD1b, GQ1b, GD3 and GT1a in the IgG subclass...
September 28, 2016: Rinshō Shinkeigaku, Clinical Neurology
Arpit Kaul, Kevin Franzese, Jeffrey Cohen
No abstract text is available yet for this article.
September 2016: PM & R: the Journal of Injury, Function, and Rehabilitation
Christopher Hicks, Marika Greiff
No abstract text is available yet for this article.
September 2016: PM & R: the Journal of Injury, Function, and Rehabilitation
Yi Dong, Chang-Jie Zhang, Jie Shi, Jinggui Deng, Chun-Na Lan
This study was aimed to identify and evaluate the International Classification of Functioning (ICF) key codes for dysphagia in stroke patients. Thirty patients with dysphagia after stroke were enrolled in our study. To evaluate the ICF dysphagia scale, 6 scales were used as comparisons, namely the Barthel Index (BI), Repetitive Saliva Swallowing Test (RSST), Kubota Water Swallowing Test (KWST), Frenchay Dysarthria Assessment, Mini-Mental State Examination (MMSE), and the Montreal Cognitive Assessment (MoCA)...
September 2016: Medicine (Baltimore)
Martin M Reich, Joachim Brumberg, Nicolò G Pozzi, Giorgio Marotta, Jonas Roothans, Mattias Åström, Thomas Musacchio, Leonardo Lopiano, Michele Lanotte, Ralph Lehrke, Andreas K Buck, Jens Volkmann, Ioannis U Isaias
Thalamic deep brain stimulation is a mainstay treatment for severe and drug-refractory essential tremor, but postoperative management may be complicated in some patients by a progressive cerebellar syndrome including gait ataxia, dysmetria, worsening of intention tremor and dysarthria. Typically, this syndrome manifests several months after an initially effective therapy and necessitates frequent adjustments in stimulation parameters. There is an ongoing debate as to whether progressive ataxia reflects a delayed therapeutic failure due to disease progression or an adverse effect related to repeated increases of stimulation intensity...
September 21, 2016: Brain: a Journal of Neurology
K V Vinod, R Kaaviya, Bhaumik Arpita
Artery of Percheron (AOP) occlusion is a rare cause of ischemic stroke characterized by bilateral paramedian thalamic infarcts, with or without mesencephalic infarction. Clinically it presents with mental state disturbances, hypersomnolence, aphasia/dysarthria, amnesia and ocular movement disorders, including vertical gaze palsy. Here, we report a case of cardioembolic AOP infarction in a 37-year-old woman with rheumatic mitral valvular stenosis. This case is being reported to highlight the interesting clinical and neuroimaging features of this rare condition, and the differential diagnosis of AOP infarction on imaging have been discussed...
July 2016: Annals of Neurosciences
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