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[PMID]: 29524722
[Au] Autor:Wang Q; Wu X; Tan M; Wang G; Xu S; Qi Y
[Ad] Address:Department of Spine Surgery, The Affiliated Hospital of Southwest Medical University, Luzhou 646000, China.
[Ti] Title:Is anatomical reduction better than partial reduction in patients with vertical atlantoaxial dislocation?
[So] Source:World Neurosurg;, 2018 Mar 07.
[Is] ISSN:1878-8769
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:OBJECTIVE: To describe lower cranial nerve palsy (LCNP) following vertical over-distraction when performing occipitocervical fusion (OCF) to treat vertical atlantoaxial dislocation (AAD) and basilar invagination (BI) and to investigate its possible causes. METHODS: We report 4 cases with vertical AAD and BI who postoperatively presented with neurogenic dysphagia, dysarthria, and bucking after undergoing anatomical reduction. RESULTS: Patients underwent revision surgery to achieve partial reduction and demonstrated remarkable recovery of 9 , 10 and 11 nerve deficits. CONCLUSION: Performing OCF in the over-distraction position to treat vertical AAD may caudally displace the brainstem relative to the cranial base, resulting in traction injury to the 9th, 10th and 11th nerves where they exit the skull base through the jugular foramen.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180310
[Lr] Last revision date:180310
[St] Status:Publisher

  2 / 5869 MEDLINE  
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[PMID]: 28467418
[Au] Autor:Khare S; Nick JA; Zhang Y; Galeano K; Butler B; Khoshbouei H; Rayaprolu S; Hathorn T; Ranum LPW; Smithson L; Golde TE; Paucar M; Morse R; Raff M; Simon J; Nordenskjöld M; Wirdefeldt K; Rincon-Limas DE; Lewis J; Kaczmarek LK; Fernandez-Funez P; Nick HS; Waters MF
[Ad] Address:Department of Neurology, University of Florida, Gainesville, FL, United States of America.
[Ti] Title:A KCNC3 mutation causes a neurodevelopmental, non-progressive SCA13 subtype associated with dominant negative effects and aberrant EGFR trafficking.
[So] Source:PLoS One;12(5):e0173565, 2017.
[Is] ISSN:1932-6203
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:The autosomal dominant spinocerebellar ataxias (SCAs) are a diverse group of neurological disorders anchored by the phenotypes of motor incoordination and cerebellar atrophy. Disease heterogeneity is appreciated through varying comorbidities: dysarthria, dysphagia, oculomotor and/or retinal abnormalities, motor neuron pathology, epilepsy, cognitive impairment, autonomic dysfunction, and psychiatric manifestations. Our study focuses on SCA13, which is caused by several allelic variants in the voltage-gated potassium channel KCNC3 (Kv3.3). We detail the clinical phenotype of four SCA13 kindreds that confirm causation of the KCNC3R423H allele. The heralding features demonstrate congenital onset with non-progressive, neurodevelopmental cerebellar hypoplasia and lifetime improvement in motor and cognitive function that implicate compensatory neural mechanisms. Targeted expression of human KCNC3R423H in Drosophila triggers aberrant wing veins, maldeveloped eyes, and fused ommatidia consistent with the neurodevelopmental presentation of patients. Furthermore, human KCNC3R423H expression in mammalian cells results in altered glycosylation and aberrant retention of the channel in anterograde and/or endosomal vesicles. Confirmation of the absence of plasma membrane targeting was based on the loss of current conductance in cells expressing the mutant channel. Mechanistically, genetic studies in Drosophila, along with cellular and biophysical studies in mammalian systems, demonstrate the dominant negative effect exerted by the mutant on the wild-type (WT) protein, which explains dominant inheritance. We demonstrate that ocular co-expression of KCNC3R423H with Drosophila epidermal growth factor receptor (dEgfr) results in striking rescue of the eye phenotype, whereas KCNC3R423H expression in mammalian cells results in aberrant intracellular retention of human epidermal growth factor receptor (EGFR). Together, these results indicate that the neurodevelopmental consequences of KCNC3R423H may be mediated through indirect effects on EGFR signaling in the developing cerebellum. Our results therefore confirm the KCNC3R423H allele as causative for SCA13, through a dominant negative effect on KCNC3WT and links with EGFR that account for dominant inheritance, congenital onset, and disease pathology.
[Mh] MeSH terms primary: Receptor, Epidermal Growth Factor/metabolism
Shaw Potassium Channels/genetics
Spinocerebellar Degenerations/genetics
[Mh] MeSH terms secundary: Animals
CHO Cells
Cricetinae
Cricetulus
Drosophila melanogaster
Female
Humans
Male
Pedigree
Protein Transport
[Pt] Publication type:JOURNAL ARTICLE
[Nm] Name of substance:0 (KCNC3 protein, human); 0 (Shaw Potassium Channels); EC 2.7.10.1 (Receptor, Epidermal Growth Factor)
[Em] Entry month:1709
[Cu] Class update date: 180311
[Lr] Last revision date:180311
[Js] Journal subset:IM
[Da] Date of entry for processing:170504
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0173565

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[PMID]: 29522408
[Au] Autor:Joy NM; Umesh S
[Ti] Title:Improving Acoustic Models in TORGO Dysarthric Speech Database.
[So] Source:IEEE Trans Neural Syst Rehabil Eng;26(3):637-645, 2018 Mar.
[Is] ISSN:1558-0210
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Assistive speech-based technologies can improve the quality of life for people affected with dysarthria, a motor speech disorder. In this paper, we explore multiple ways to improve Gaussian mixture model and deep neural network (DNN) based hidden Markov model (HMM) automatic speech recognition systems for TORGO dysarthric speech database. This work shows significant improvements over the previous attempts in building such systems in TORGO. We trained speaker-specific acoustic models by tuning various acoustic model parameters, using speaker normalized cepstral features and building complex DNN-HMM models with dropout and sequence-discrimination strategies. The DNN-HMM models for severe and severe-moderate dysarthric speakers were further improved by leveraging specific information from dysarthric speech to DNN models trained on audio files from both dysarthric and normal speech, using generalized distillation framework. To the best of our knowledge, this paper presents the best recognition accuracies for TORGO database till date.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180309
[Lr] Last revision date:180309
[St] Status:In-Data-Review
[do] DOI:10.1109/TNSRE.2018.2802914

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[PMID]: 29516763
[Au] Autor:Kuschmann A; Lowit A
[Ad] Address:a School of Psychological Sciences and Health, Speech and Language Therapy , University of Strathclyde , Glasgow , UK.
[Ti] Title:Sentence stress in children with dysarthria and cerebral palsy.
[So] Source:Int J Speech Lang Pathol;:1-11, 2018 Mar 08.
[Is] ISSN:1754-9515
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:PURPOSE: This study aimed to advance our understanding of how children with dysarthria and cerebral palsy (CP) realise sentence stress acoustically, and how well listeners could identify the position of the stressed word within these utterances. METHOD: Seven children with CP and eight typically developing children participated in the experiment. Stress on target words in two sentence positions was elicited through a picture-based question-answer paradigm. Acoustic parameters of stress [duration, intensity and fundamental frequency (F0)] were measured and compared between stressed and unstressed target words. For the perception experiment, ten listeners were asked to determine the position of the stressed word in the children's productions. RESULT: Acoustic measures showed that at group level the typically developing children used all three acoustic parameters to mark sentence stress, whereas the children with CP showed changes in duration only. Individual performance variations were evident in both groups. Perceptually, listeners were significantly better at identifying the stressed words in the utterances produced by the typically developing children than those of the children with CP. CONCLUSION: The results suggest that children with CP can manipulate temporal speech properties to mark stress. This ability to modulate acoustic-prosodic features could be harnessed in intervention to enhance children's functional communication.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180308
[Lr] Last revision date:180308
[St] Status:Publisher
[do] DOI:10.1080/17549507.2018.1444093

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[PMID]: 29516454
[Au] Autor:Espert R; Gadea M; Alino M; Oltra-Cucarella J; Perpina C
[Ad] Address:Universidad de Valencia, 46071 Valencia, Espana.
[Ti] Title:Enfermedad de moyamoya: aspectos clinicos, neurorradiologicos, neuropsicolologicos y geneticos. [Moyamoya disease: clinical, neuroradiological, neuropsychological and genetic perspective].
[So] Source:Rev Neurol;66(S01):S57-S64, 2018 Mar 01.
[Is] ISSN:1576-6578
[Cp] Country of publication:Spain
[La] Language:spa
[Ab] Abstract:INTRODUCTION: Moyamoya disease (MMD) is an occlusive cerebrovascular disease characterized by progressive stenosis or occlusion in the terminal portion of the bilateral internal carotid arteries, affecting both children and adults. AIM: To conduct a review and update on MMD from a clinical, neuroradiological, neuropsychological and genetic perspective. DEVELOPMENT: In this pathology, which occurs with ischemia or cerebral hemorrhage, an unusual compensatory vascular network (moyamoya vessels) develops at the base of the brain in the form of collateral channels. MMD can present clinically with hemiparesis, dysarthria, aphasia, headache, seizures, visual deficits, syncopes or changes in personality. At the neuropsychological level, and even in the absence of obvious strokes, patients usually present impairment of attention, memory, behavior and executive functions. High resolution angiography and magnetic resonance imaging have been a neuroradiological advance towards an early detection of this disease. At the genetic level, the RING (really interesting new gene) RNF213 has recently been identified, and it is considered the most important genetic risk factor known up to now in the MMD. CONCLUSIONS: MMD is a rare pathology that predominantly affects the frontal lobes. The genetic and neuroradiological advances, in addition to a cognitive profile, contribute to early diagnosis and treatment to improve the quality of life of these patients.
[Pt] Publication type:CLINICAL CONFERENCE; ENGLISH ABSTRACT
[Em] Entry month:1803
[Cu] Class update date: 180308
[Lr] Last revision date:180308
[St] Status:In-Data-Review

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[PMID]: 29351690
[Au] Autor:Burkhardt JK; Bal C; Neidert MC; Bozinov O
[Ad] Address:Department of Neurosurgery, University Hospital Zurich, University of Zurich, Switzerland.
[Ti] Title:The Transcondylar Approach to Access Symptomatic Arachnoid Cysts of the Hypoglossal Canal.
[So] Source:Oper Neurosurg (Hagerstown);14(2):E23-E25, 2018 Feb 01.
[Is] ISSN:2332-4260
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:BACKGROUND AND IMPORTANCE: A direct transcondylar approach to treat symptomatic arachnoid cysts of the hypoglossal canal has not yet been described in the literature. CLINICAL PRESENTATION: Here, we present a skull base approach in 2 female patients (68 and 38 yr) with progressive dysphagia, dysarthria, half-sided weakness, and atrophy of the tongue due to an arachnoid cyst of the hypoglossal canal. After patient informed consent, both patients were successfully operated on without complications using a transcondylar approach, and their symptoms improved 3 mo after surgery; in both patients, resection of the cyst was confirmed using magnetic resonance imaging. Review of the literature revealed 4 surgically treated cases of hypoglossal cysts operated on through a paramedian suboccipital craniotomy from a medial to lateral surgical corridor. CONCLUSION: This is the first description of the transcondylar surgical approach to safely operate on symptomatic arachnoid cysts located in the hypoglossal canal. The isolated transcondylar approach is useful in selective cases when the pathology is located within the hypoglossal canal only and the skull base anatomy allows a direct approach.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180308
[Lr] Last revision date:180308
[St] Status:In-Data-Review
[do] DOI:10.1093/ons/opx117

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[PMID]: 29345223
[Au] Autor:Nashi S; Preethish-Kumar V; Maji S; Chandrashekar N; Polavarapu K; Kashinkunti C; Bhattacharya K; Saini J; Nalini A
[Ad] Address:Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore, India.
[Ti] Title:Case Report: Neurobrucellosis with Plastered Spinal Arachnoiditis: A Magnetic Resonance Imaging-Based Report.
[So] Source:Am J Trop Med Hyg;98(3):800-802, 2018 Mar.
[Is] ISSN:1476-1645
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Diffuse spinal arachnoiditis in neurobrucellosis is a rare manifestation. We report a boy aged 17, presenting with hearing impairment and recurrent vomiting for 18 months, weight loss for 12 months, dysphagia, dysarthria, hypophonia for 6 months, and gait unsteadiness for 5 months. He had bilateral 5th (motor) to 12th cranial nerve palsy, wasting and weakness of limbs, fasciculations, absent tendon reflexes, and positive Babinski's sign. Cerebrospinal fluid (CSF) showed raised protein and pleocytosis. Magnetic resonance imaging (MRI) showed extensive enhancing exudates in cisterns and post-contrast enhancement of bilateral 5th, 6th, 7th, and 8th nerves. Spine showed clumping with contrast enhancement of the cauda equina roots and encasement of the cord with exudates. Serum and CSF were positive for anti- antibodies. He showed significant improvement with antibiotics. At 4 months follow-up, MRI demonstrated near complete resolution of cranial and spinal arachnoiditis. It is important to recognize such rare atypical presentations of neurobrucellosis.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180308
[Lr] Last revision date:180308
[St] Status:In-Data-Review
[do] DOI:10.4269/ajtmh.17-0828

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[PMID]: 29293924
[Au] Autor:Griese SE; Kisselburgh HM; Bartenfeld MT; Thomas E; Rao AK; Sobel J; Dziuban EJ
[Ad] Address:Office of Science and Public Health Practice, Office of Public Health Preparedness and Response, Centers for Disease Control and Prevention, Atlanta, Georgia.
[Ti] Title:Pediatric Botulism and Use of Equine Botulinum Antitoxin in Children: A Systematic Review.
[So] Source:Clin Infect Dis;66(suppl_1):S17-S29, 2017 Dec 27.
[Is] ISSN:1537-6591
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Background: Botulism manifests with cranial nerve palsies and flaccid paralysis in children and adults. Botulism must be rapidly identified and treated; however, clinical presentation and treatment outcomes of noninfant botulism in children are not well described. Methods: We searched 12 databases for peer-reviewed and non-peer-reviewed reports with primary data on botulism in children (persons <18 years of age) or botulinum antitoxin administration to children. Reports underwent title and abstract screening and full text review. For each case, patient demographic, clinical, and outcome data were abstracted. Results: Of 7065 reports identified, 184 met inclusion criteria and described 360 pediatric botulism cases (79% confirmed, 21% probable) that occurred during 1929-2015 in 34 countries. Fifty-three percent were male; age ranged from 4 months to 17 years (median, 10 years). The most commonly reported signs and symptoms were dysphagia (53%), dysarthria (39%), and generalized weakness (37%). Inpatient length of stay ranged from 1 to 425 days (median, 24 days); 14% of cases required intensive care unit admission; 25% reported mechanical ventilation. Eighty-three (23%) children died. Median interval from illness onset to death was 1 day (range, 0-260 days). Among patients who received antitoxin (n = 193), 23 (12%) reported an adverse event, including rash, fever, serum sickness, and anaphylaxis. Relative risk of death among patients treated with antitoxin compared with patients not treated with antitoxin was 0.24 (95% confidence interval, .14-.40; P < .0001). Conclusions: Dysphagia and dysarthria were the most commonly reported cranial nerve symptoms in children with botulism; generalized weakness was described more than paralysis. Children who received antitoxin had better survival; serious adverse events were rare. Most deaths occurred early in the clinical course; therefore, botulism in children should be identified and treated rapidly.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180308
[Lr] Last revision date:180308
[St] Status:In-Data-Review
[do] DOI:10.1093/cid/cix812

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[PMID]: 29281074
[Au] Autor:Bot M; van Rootselaar F; Contarino MF; Odekerken V; Dijk J; de Bie R; Schuurman R; van den Munckhof P
[Ad] Address:Department of Neurosurgery, Academic Medical Center, Amsterdam, The Nether-lands.
[Ti] Title:Deep Brain Stimulation for Essential Tremor: Aligning Thalamic and Posterior Subthalamic Targets in 1 Surgical Trajectory.
[So] Source:Oper Neurosurg (Hagerstown);, 2017 Dec 21.
[Is] ISSN:2332-4260
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:BACKGROUND: Ventral intermediate nucleus (VIM) deep brain stimulation (DBS) and posterior subthalamic area (PSA) DBS suppress tremor in essential tremor (ET) patients, but it is not clear which target is optimal. Aligning both targets in 1 surgical trajectory would facilitate exploring stimulation of either target in a single patient. OBJECTIVE: To evaluate aligning VIM and PSA in 1 surgical trajectory for DBS in ET. METHODS: Technical aspects of trajectories, intraoperative stimulation findings, final electrode placement, target used for chronic stimulation, and adverse and beneficial effects were evaluated. RESULTS: In 17 patients representing 33 trajectories, we successfully aligned VIM and PSA targets in 26 trajectories. Trajectory distance between targets averaged 7.2 (range 6-10) mm. In all but 4 aligned trajectories, optimal intraoperative tremor suppression was obtained in the PSA. During follow-up, active electrode contacts were located in PSA in the majority of cases. Overall, successful tremor control was achieved in 69% of patients. Stimulation-induced dysarthria or gait ataxia occurred in, respectively, 56% and 44% of patients. Neither difference in tremor suppression or side effects was noted between aligned and nonaligned leads nor between the different locations of chronic stimulation. CONCLUSION: Alignment of VIM and PSA for DBS in ET is feasible and enables intraoperative exploration of both targets in 1 trajectory. This facilitates positioning of electrode contacts in both areas, where multiple effective points of stimulation can be found. In the majority of aligned leads, optimal intraoperative and chronic stimulation were located in the PSA.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1712
[Cu] Class update date: 180308
[Lr] Last revision date:180308
[St] Status:Publisher
[do] DOI:10.1093/ons/opx232

  10 / 5869 MEDLINE  
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[PMID]: 29512044
[Au] Autor:Geier DA; Kern JK; Sykes LK; Geier MR
[Ad] Address:The Institute of Chronic Illnesses, Inc, 14 Redgate Ct, Silver Spring, MD, USA.
[Ti] Title:Mercury-associated diagnoses among children diagnosed with pervasive development disorders.
[So] Source:Metab Brain Dis;, 2018 Mar 06.
[Is] ISSN:1573-7365
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Nelson and Bauman (Pediatrics 111:674-679, 2003) previously hypothesized that pervasive developmental disorder (PDD) was not associated with mercury (Hg) exposure because the medical conditions associated with Hg exposure were not associated with PDD. A hypothesis-testing longitudinal case-control study evaluated the frequency of medically diagnosed conditions previously associated with Hg poisoning, including: epilepsy, dysarthria, failure to thrive, cerebral palsy, or contact dermatitis and other eczema among children preceding their eventual PDD diagnosis (cases) compared to controls. A retrospective examination of medical records within the Vaccine Safety Datalink (VSD) was undertaken. Cases diagnosed with PDD (n = 534) were born from 1991 to 2000 and continuously enrolled until their PDD diagnosis. Controls (n = 26,367) were born from 1991 to 1993 and continuously enrolled from birth for 7.22 years. Within the first 5 years of life, cases compared to controls were significantly (p < 0.0001) more likely to be assigned a diagnosis of contact dermatitis and other eczema (odds ratio (OR) = 2.033), dysarthria (OR = 23.992), epilepsy (OR = 5.351), failure to thrive (OR = 25.3), and cerebral palsy (OR = 4.464). Similar results were observed when the data were separated by gender. Overall, the results of the present study and recently published studies provide direct evidence supporting a link in twelve of twelve categories (100%) of Hg poisoning associated symptoms as defined by Nelson and Bauman (Pediatrics 111:674-679, 2003) and symptoms observed in those with a PDD diagnosis. The results of this study support the biological plausibility of Hg poisoning to induce PDD diagnoses and rejection of the Nelson and Bauman (Pediatrics 111:674-679, 2003) hypothesis because those with a PDD diagnosis have an increased frequency of conditions previously associated with Hg poisoning.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180307
[Lr] Last revision date:180307
[St] Status:Publisher
[do] DOI:10.1007/s11011-018-0211-9


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