Τρίτη 27 Ιουνίου 2017

Neuroimaging of an attention demanding dual-task during dynamic postural control

Publication date: September 2017
Source:Gait & Posture, Volume 57
Author(s): Andrea L. Rosso, Massimo Cenciarini, Patrick J. Sparto, Patrick J. Loughlin, Joseph M. Furman, Theodore J. Huppert
Cognitive tasks impact postural control when performed concurrently as dual-tasks. This is presumed to result from capacity limitations in relevant brain regions. We used functional near-infrared spectroscopy (fNIRS) to measure brain activation of the left motor, temporal, and dorsal-lateral prefrontal brain regions of younger (n=6) and older (n=10) adults. Brain activation was measured during an auditory choice reaction task (CRT) and standing on a dynamic posturography platform, both as single-tasks and concurrently as dual-task. Body sway was assessed by median absolute deviation (MAD) of anterior-posterior translation of the center of mass (COM). Brain activation was measured as changes in oxy-hemoglobin by fNIRS. During both single- and dual-task conditions, we found that older adults had greater brain activation relative to younger adults. During dual task performance, the total activation was less than expected from the sum of individual conditions for both age groups, indicating a dual-task interference (reduction in younger adults=53% [p=0.02]; in older adults=53%; [p=0.008]). This reduction was greater for the activation attributable to the postural task (reduction younger adults=75% [p=0.03]; older adults=59% [p=0.005]) compared to the CRT task (reduction younger adults=10%, [p=0.6]; older adults=7.3%, [p=0.5]) in both age groups. Activation reduction was not accompanied by any significant changes in body sway in either group (older adults: single-task MAD=0.94cm, dual-task MAD=1.10cm, p=0.20; younger adults: single-task RMS=0.95cm, dual-task MAD=1.08cm, p=0.14). Our results indicate that neural resources devoted to postural control are reduced under dual-task conditions that engage attention.



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Neuroimaging of an attention demanding dual-task during dynamic postural control

Publication date: September 2017
Source:Gait & Posture, Volume 57
Author(s): Andrea L. Rosso, Massimo Cenciarini, Patrick J. Sparto, Patrick J. Loughlin, Joseph M. Furman, Theodore J. Huppert
Cognitive tasks impact postural control when performed concurrently as dual-tasks. This is presumed to result from capacity limitations in relevant brain regions. We used functional near-infrared spectroscopy (fNIRS) to measure brain activation of the left motor, temporal, and dorsal-lateral prefrontal brain regions of younger (n=6) and older (n=10) adults. Brain activation was measured during an auditory choice reaction task (CRT) and standing on a dynamic posturography platform, both as single-tasks and concurrently as dual-task. Body sway was assessed by median absolute deviation (MAD) of anterior-posterior translation of the center of mass (COM). Brain activation was measured as changes in oxy-hemoglobin by fNIRS. During both single- and dual-task conditions, we found that older adults had greater brain activation relative to younger adults. During dual task performance, the total activation was less than expected from the sum of individual conditions for both age groups, indicating a dual-task interference (reduction in younger adults=53% [p=0.02]; in older adults=53%; [p=0.008]). This reduction was greater for the activation attributable to the postural task (reduction younger adults=75% [p=0.03]; older adults=59% [p=0.005]) compared to the CRT task (reduction younger adults=10%, [p=0.6]; older adults=7.3%, [p=0.5]) in both age groups. Activation reduction was not accompanied by any significant changes in body sway in either group (older adults: single-task MAD=0.94cm, dual-task MAD=1.10cm, p=0.20; younger adults: single-task RMS=0.95cm, dual-task MAD=1.08cm, p=0.14). Our results indicate that neural resources devoted to postural control are reduced under dual-task conditions that engage attention.



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Systemic Aminoglycosides-Induced Vestibulotoxicity in Humans.

Objectives: This systematic review aimed to investigate the prevalence and characteristics of vestibular adverse effects of aminoglycoside (AG) therapy in humans and to analyze objective vestibular tests for the detection of AG-induced vestibulotoxicity. Design: PubMed, Cochrane Database, Web of Science, and reference lists of all included studies were screened by two independent researchers. The Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA) guidelines were followed. Studies were included according to preset inclusion criteria and reported outcomes of studies evaluating vestibular function using one or more objective vestibular function tests in adults and children after systemic AG administration. The methodological quality of each study was assessed using the quality assessment tool for quantitative studies. Interrater reliability was established using Cohen's Kappa. Results: Twenty-seven studies were included, with the vast majority showing AG-induced vestibulotoxic side effects, ranging from 0 to 60%. Most studies reported AG-induced abnormalities by caloric and rotatory testing, whereas only a few studies reported using video Head Impulse test and vestibular evoked myogenic potential testing. Conclusions: Because type I hair cells (particularly of the semicircular canals) are more susceptible to ototoxicity, video Head Impulse test and vestibular evoked myogenic potential testing seem more promising for the early detection of vestibulotoxicity than caloric and rotatory testing. Prospective studies using an extensive vestibular test battery are needed to further characterize the impact of AGs on the different vestibular end organs and to identify the most sensitive vestibular technique for the early detection of vestibulotoxicity. Copyright (C) 2017 Wolters Kluwer Health, Inc. All rights reserved.

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Systemic Aminoglycosides-Induced Vestibulotoxicity in Humans.

Objectives: This systematic review aimed to investigate the prevalence and characteristics of vestibular adverse effects of aminoglycoside (AG) therapy in humans and to analyze objective vestibular tests for the detection of AG-induced vestibulotoxicity. Design: PubMed, Cochrane Database, Web of Science, and reference lists of all included studies were screened by two independent researchers. The Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA) guidelines were followed. Studies were included according to preset inclusion criteria and reported outcomes of studies evaluating vestibular function using one or more objective vestibular function tests in adults and children after systemic AG administration. The methodological quality of each study was assessed using the quality assessment tool for quantitative studies. Interrater reliability was established using Cohen's Kappa. Results: Twenty-seven studies were included, with the vast majority showing AG-induced vestibulotoxic side effects, ranging from 0 to 60%. Most studies reported AG-induced abnormalities by caloric and rotatory testing, whereas only a few studies reported using video Head Impulse test and vestibular evoked myogenic potential testing. Conclusions: Because type I hair cells (particularly of the semicircular canals) are more susceptible to ototoxicity, video Head Impulse test and vestibular evoked myogenic potential testing seem more promising for the early detection of vestibulotoxicity than caloric and rotatory testing. Prospective studies using an extensive vestibular test battery are needed to further characterize the impact of AGs on the different vestibular end organs and to identify the most sensitive vestibular technique for the early detection of vestibulotoxicity. Copyright (C) 2017 Wolters Kluwer Health, Inc. All rights reserved.

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Systemic Aminoglycosides-Induced Vestibulotoxicity in Humans.

Objectives: This systematic review aimed to investigate the prevalence and characteristics of vestibular adverse effects of aminoglycoside (AG) therapy in humans and to analyze objective vestibular tests for the detection of AG-induced vestibulotoxicity. Design: PubMed, Cochrane Database, Web of Science, and reference lists of all included studies were screened by two independent researchers. The Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA) guidelines were followed. Studies were included according to preset inclusion criteria and reported outcomes of studies evaluating vestibular function using one or more objective vestibular function tests in adults and children after systemic AG administration. The methodological quality of each study was assessed using the quality assessment tool for quantitative studies. Interrater reliability was established using Cohen's Kappa. Results: Twenty-seven studies were included, with the vast majority showing AG-induced vestibulotoxic side effects, ranging from 0 to 60%. Most studies reported AG-induced abnormalities by caloric and rotatory testing, whereas only a few studies reported using video Head Impulse test and vestibular evoked myogenic potential testing. Conclusions: Because type I hair cells (particularly of the semicircular canals) are more susceptible to ototoxicity, video Head Impulse test and vestibular evoked myogenic potential testing seem more promising for the early detection of vestibulotoxicity than caloric and rotatory testing. Prospective studies using an extensive vestibular test battery are needed to further characterize the impact of AGs on the different vestibular end organs and to identify the most sensitive vestibular technique for the early detection of vestibulotoxicity. Copyright (C) 2017 Wolters Kluwer Health, Inc. All rights reserved.

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Δευτέρα 26 Ιουνίου 2017

Identification of a novel splicing mutation within SLC17A8 in a Korean family with hearing loss by whole-exome sequencing.

Identification of a novel splicing mutation within SLC17A8 in a Korean family with hearing loss by whole-exome sequencing.

Gene. 2017 Jun 21;:

Authors: Ryu N, Lee S, Park HJ, Lee B, Kwon TJ, Bok J, Park CI, Lee KY, Baek JI, Kim UK

Abstract
Hereditary hearing loss (HHL) is a common genetically heterogeneous disorder, which follows Mendelian inheritance in humans. Because of this heterogeneity, the identification of the causative gene of HHL by linkage analysis or Sanger sequencing have shown economic and temporal limitations. With recent advances in next-generation sequencing (NGS) techniques, rapid identification of a causative gene via massively parallel sequencing is now possible. We recruited a Korean family with three generations exhibiting autosomal dominant inheritance of HL, and the clinical information about this family revealed that there are no other symptoms accompanied with HL. To identify a causative mutation of HL in this family, we performed whole-exome sequencing of 4 family members, 3 affected and an unaffected. As the result, A novel splicing mutation, c.763+1G>T, in the solute carrier family 17, member 8 (SLC17A8) gene was identified in the patients, and the genotypes of the mutation were co-segregated with the phenotype of HL. Additionally, this mutation was not detected in 100 Koreans with normal hearing. Via NGS, we detected a novel splicing mutation that might influence the hearing ability within the patients with autosomal dominant non-syndromic HL. Our data suggests that this technique is a powerful tool to discover causative genetic factors of HL and facilitate diagnoses of the primary cause of HHL.

PMID: 28647561 [PubMed - as supplied by publisher]



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Fever-Induced Paroxysmal Weakness and Encephalopathy, a New Phenotype of ATP1A3 Mutation.

Fever-Induced Paroxysmal Weakness and Encephalopathy, a New Phenotype of ATP1A3 Mutation.

Pediatr Neurol. 2017 Apr 29;:

Authors: Yano ST, Silver K, Young R, DeBrosse SD, Ebel RS, Swoboda KJ, Acsadi G

Abstract
BACKGROUND: We identified a group of patients with ATP1A3 mutations at residue 756 who display a new phenotype, distinct from alternating hemiplegia of childhood, rapid-onset dystonia-parkinsonism, and cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndromes.
METHODS: Four patients with c.2267G>A (R756H) mutations from two families and two patients with c.2267G>T (R756L) mutations from one family are described and compared with the previously reported patients with mutations resulting in R756H and R756C protein variants.
RESULTS: Patients with ATP1A3 R756H have onset in childhood of infrequent, fever-triggered paroxysms of encephalopathy and weakness with slowly improving but persistent deficits. Motor findings of weakness are mostly generalized, and patients may also have bulbar or oculomotor problems. Longer-term outcomes range from mild motor apraxia with near-normal function to persistent dysphagia, dysarthria, cognitive deficit, motor apraxia, and inability to walk because of ataxia. Patients with ATP1A3 R756L have a similar phenotype that includes paroxysmal, stepwise progression of ataxia associated with infections.
CONCLUSIONS: ATP1A3 mutations affecting residue 756 result in a clinical syndrome, separate from those associated with previously described ATP1A3 mutations, which consists chiefly of fever-induced paroxysmal weakness and encephalopathy (FIPWE). Patients with R756L and R756C protein variants display more prominent ataxia, overlapping with the relapsing encephalopathy with cerebellar ataxia syndrome previously described in a patient with the c.2266C>T (R756C) mutation. All patients reported with mutations at residue 756 to date have had a similar episodic course and clinical features. Patients with mutations of ATP1A3 residue 756 appear to have a distinct clinical phenotype compared with patients with other ATP1A3 mutations, with fever-induced encephalopathy as key differentiating feature.

PMID: 28647130 [PubMed - as supplied by publisher]



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