Database : MEDLINE
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[PMID]: 29524657
[Au] Autor:Coarelli G; Romano S; Travaglini L; Ferraldeschi M; Nicita F; Spadaro M; Fornasiero A; Frontali M; Salvetti M; Bertini E; Ristori G
[Ad] Address:Assistance Publique-Hôpitaux de Paris (AP-HP) & Paris 13 University, Avicenne Hospital, Neurology Department, 93009, Bobigny, France.
[Ti] Title:Novel homozygous GBA2 mutation in a patient with complicated spastic paraplegia.
[So] Source:Clin Neurol Neurosurg;168:60-63, 2018 Mar 03.
[Is] ISSN:1872-6968
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract:Hereditary spastic paraplegias (HSPs) are a heterogeneous group of neurological disorders characterized primarily by a pyramidal syndrome with lower limb spasticity, which can manifest as pure HSP or associated with a number of neurological or non-neurological signs (i.e., complicated HSPs). The clinical variability of HSPs is associated with a wide genetic heterogeneity, with more than eighty causative genes known. Recently, next generation sequencing (NGS) has allowed increasing genetic definition in such a heterogeneous group of disorders. We report on a 56- year-old man affected by sporadic complicated HSP consisting of a pyramidal syndrome, cerebellar ataxia, congenital cataract, pes cavus, axonal sensory-motor peripheral neuropathy and cognitive decline. Brain MRI showed cerebellar atrophy and thin corpus callosum. By NGS we found a novel homozygous biallelic c.452-1G > C mutation in the b-glucosidase 2 gene (GBA2), known to be causative for autosomal recessive hereditary spastic paraplegia type 46 (SPG46). The rarity of this inherited form besides reporting on a novel mutation, expands the genetic and clinical spectrum of SPG46 related HSP.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180310
[Lr] Last revision date:180310
[St] Status:Publisher

  2 / 125161 MEDLINE  
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[PMID]: 29524624
[Au] Autor:Varol E; Sotiras A; Davatzikos C
[Ad] Address:Section for Biomedical Image Analysis, Center for Biomedical Image Computing and Analytics, University of Pennsylvania, Philadelphia, PA, 19104, USA. Electronic address: erdem.varol@uphs.upenn.edu.
[Ti] Title:MIDAS: Regionally linear multivariate discriminative statistical mapping.
[So] Source:Neuroimage;, 2018 Mar 07.
[Is] ISSN:1095-9572
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Statistical parametric maps formed via voxel-wise mass-univariate tests, such as the general linear model, are commonly used to test hypotheses about regionally specific effects in neuroimaging cross-sectional studies where each subject is represented by a single image. Despite being informative, these techniques remain limited as they ignore multivariate relationships in the data. Most importantly, the commonly employed local Gaussian smoothing, which is important for accounting for registration errors and making the data follow Gaussian distributions, is usually chosen in an ad hoc fashion. Thus, it is often suboptimal for the task of detecting group differences and correlations with non-imaging variables. Information mapping techniques, such as searchlight, which use pattern classifiers to exploit multivariate information and obtain more powerful statistical maps, have become increasingly popular in recent years. However, existing methods may lead to important interpretation errors in practice (i.e., misidentifying a cluster as informative, or failing to detect truly informative voxels), while often being computationally expensive. To address these issues, we introduce a novel efficient multivariate statistical framework for cross-sectional studies, termed MIDAS, seeking highly sensitive and specific voxel-wise brain maps, while leveraging the power of regional discriminant analysis. In MIDAS, locally linear discriminative learning is applied to estimate the pattern that best discriminates between two groups, or predicts a variable of interest. This pattern is equivalent to local filtering by an optimal kernel whose coefficients are the weights of the linear discriminant. By composing information from all neighborhoods that contain a given voxel, MIDAS produces a statistic that collectively reflects the contribution of the voxel to the regional classifiers as well as the discriminative power of the classifiers. Critically, MIDAS efficiently assesses the statistical significance of the derived statistic by analytically approximating its null distribution without the need for computationally expensive permutation tests. The proposed framework was extensively validated using simulated atrophy in structural magnetic resonance imaging (MRI) and further tested using data from a task-based functional MRI study as well as a structural MRI study of cognitive performance. The performance of the proposed framework was evaluated against standard voxel-wise general linear models and other information mapping methods. The experimental results showed that MIDAS achieves relatively higher sensitivity and specificity in detecting group differences. Together, our results demonstrate the potential of the proposed approach to efficiently map effects of interest in both structural and functional data.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180310
[Lr] Last revision date:180310
[St] Status:Publisher

  3 / 125161 MEDLINE  
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[PMID]: 29524469
[Au] Autor:Hendrickse P; Galinska M; Hodson-Tole E; Degens H
[Ad] Address:School of Healthcare Science, Manchester Metropolitan University, UK; Institute of Sport Science and Innovation, Lithuanian Sports University, Kaunas, Lithuania. Electronic address: paul.w.hendrickse@stu.mmu.ac.uk.
[Ti] Title:An evaluation of common markers of muscle denervation in denervated young-adult and old rat gastrocnemius muscle.
[So] Source:Exp Gerontol;, 2018 Mar 07.
[Is] ISSN:1873-6815
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:A large part of age-related muscle wasting is due to incomplete reinnervation of fibres that have become denervated following motoneuron loss. Neural cell adhesion molecule (NCAM) and sodium channel NaV1.5 are considered markers for denervation, but the time course of changes in their expression following denervation has never been systematically evaluated in young-adult and old muscle. To assess the time course of denervation-induced changes in their expression, the left gastrocnemius muscle in 15 young-adult (5-month) and 10 old (25-month) male Wistar rats was denervated for 1, 2 or 4 weeks, while the right muscle served as an internal control. Sections were stained for α-bungarotoxin, to visualise the neuromuscular junctions, combined with NCAM, polysialylated NCAM (PSA-NCAM) or NaV1.5. In young-adult animals, denervation induced a transient decrease in junctional and cytoplasmic NCAM expression, while in the old NCAM expression was increased after 2 weeks. Cytoplasmic PSA-NCAM was increased in both young-adult and old fibres after 2 weeks denervation with a further increase after 4 weeks in the young only. The junctional PSA-NCAM was transiently increased or decreased in the young and old muscles, respectively. NaV1.5 expression decreased after 1 and 2 weeks of denervation in NaV1.5 in young muscle fibres before returning to control levels, whereas old muscle fibres displayed a transient increase after 1 week followed by a decrease and a return to control levels after 2 and 4 weeks respectively. In conclusion, NCAM and NaV1.5 are not unequivocally elevated with denervation and consequently are not adequate markers of fibre denervation.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180310
[Lr] Last revision date:180310
[St] Status:Publisher

  4 / 125161 MEDLINE  
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[PMID]: 29516048
[Au] Autor:Strehaianu MV; Dascalescu D; Ionescu C; Burcel M; Potop V; Corbu C
[Ad] Address:Clinical Ophthalmology Emergency Hospital Bucharest, Romania.
[Ti] Title:The importance of ganglion cell complex investigation in myopic patients.
[So] Source:Rom J Ophthalmol;61(4):284-289, 2017 Oct-Dec.
[Is] ISSN:2457-4325
[Cp] Country of publication:Romania
[La] Language:eng
[Ab] Abstract:Glaucoma is an optic neuropathy that affects the ganglion cell complex in all its components: cell bodies, dendrites, and axons, the dendritic arbor being the first one damaged. This is the reason why the thickness of the ganglion cell and internal plexiform layers can be taken into account as an early predictor of the glaucomatous changes, along with the retinal nerve fiber layer (RNFL) thickness. However, due to disc tilting and peripapillary atrophy, the RNFL evaluation may be prone to errors in myopic patients. We presented the cases of two myopic patients, who, after a routine examination, were identified as glaucoma suspects. The Optical Coherence Tomography (OCT) scan revealed a nerve fiber loss which was not confirmed by the ganglion cell complex scan. Thereafter we manually adjusted the optic disc margins according to the patients' myopic changes and this time the retinal nerve fiber layer was also normal. We observed that the ganglion cell complex evaluation led to fewer errors than the retinal nerve fiber layer evaluation, particularly in front of a myopic patient. Nevertheless, various investigations should be considered in the attempt to issue a diagnosis of glaucoma.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180311
[Lr] Last revision date:180311
[St] Status:In-Process

  5 / 125161 MEDLINE  
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[PMID]: 29516047
[Au] Autor:Zemba M; Danilova T; Pulbere L; Stamate AC
[Ad] Address:Department of Ophthalmology, "Dr. Carol Davila" Central University Military Emergency Hospital, Bucharest, Romania.
[Ti] Title:Uncommon form of normal-tension glaucoma.
[So] Source:Rom J Ophthalmol;61(4):275-283, 2017 Oct-Dec.
[Is] ISSN:2457-4325
[Cp] Country of publication:Romania
[La] Language:eng
[Ab] Abstract:Aim: To present diagnostic particularities, assessment of prognosis, and the need for treatment in a case of normal-tension glaucoma. Methods: - presentation of clinical changes and investigations supporting the diagnosis; - careful anamnesis that disclosed new elements, useful for the evaluation of the case. Results: after a two-year follow-up period, we can ascertain that the optic atrophy is non-progressive. Conclusions: the assessment of risk factors and a rigorous anamnesis were significant for the establishment of prognosis and need for treatment.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180311
[Lr] Last revision date:180311
[St] Status:In-Process

  6 / 125161 MEDLINE  
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[PMID]: 29512427
[Au] Autor:Koenig KA; Rao SM; Lowe MJ; Lin J; Sakaie KE; Stone L; Bermel RA; Trapp BD; Phillips MD
[Ad] Address:Imaging Institute, Cleveland Clinic, Cleveland, OH, USA.
[Ti] Title:The role of the thalamus and hippocampus in episodic memory performance in patients with multiple sclerosis.
[So] Source:Mult Scler;:1352458518760716, 2018 Mar 01.
[Is] ISSN:1477-0970
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:BACKGROUND: Episodic memory loss is one of the most common cognitive symptoms in patients with multiple sclerosis (MS), but the pathophysiology of this symptom remains unclear. Both the hippocampus and thalamus have been implicated in episodic memory and show regional atrophy in patients with MS. OBJECTIVE: In this work, we used functional magnetic resonance imaging (fMRI) during a verbal episodic memory task, lesion load, and volumetric measures of the hippocampus and thalamus to assess the relative contributions to verbal and visual-spatial episodic memory. METHODS: Functional activation, lesion load, and volumetric measures from 32 patients with MS and 16 healthy controls were used in a predictive analysis of episodic memory function. RESULTS: After adjusting for disease duration, immediate recall performance on a visual-spatial episodic memory task was significantly predicted by hippocampal volume ( p < 0.003). Delayed recall on the same task was significantly predicted by volume of the left thalamus ( p < 0.003). For both memory measures, functional activation of the thalamus during encoding was more predictive than that of volume measures ( p < 0.002). CONCLUSION: Our results suggest that functional activation may be useful as a predictive measure of episodic memory loss in patients with MS.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180311
[Lr] Last revision date:180311
[St] Status:Publisher
[do] DOI:10.1177/1352458518760716

  7 / 125161 MEDLINE  
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[PMID]: 29511163
[Au] Autor:Delprat B; Maurice T; Delettre C
[Ad] Address:INSERM UMR-S1198, 34095, Montpellier, France. benjamin.delprat@inserm.fr.
[Ti] Title:Wolfram syndrome: MAMs' connection?
[So] Source:Cell Death Dis;9(3):364, 2018 Mar 06.
[Is] ISSN:2041-4889
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Wolfram syndrome (WS) is a rare neurodegenerative disease, the main pathological hallmarks of which associate with diabetes, optic atrophy, and deafness. Other symptoms may be identified in some but not all patients. Prognosis is poor, with death occurring around 35 years of age. To date, no treatment is available. WS was first described as a mitochondriopathy. However, the localization of the protein on the endoplasmic reticulum (ER) membrane challenged this hypothesis. ER contacts mitochondria to ensure effective Ca transfer, lipids transfer, and apoptosis within stabilized and functionalized microdomains, termed "mitochondria-associated ER membranes" (MAMs). Two types of WS are characterized so far and Wolfram syndrome type 2 is due to mutation in CISD2, a protein mostly expressed in MAMs. The aim of the present review is to collect evidences showing that WS is indeed a mitochondriopathy, with established MAM dysfunction, and thus share commonalities with several neurodegenerative diseases, including Alzheimer's disease, Parkinson's disease, and amyotrophic lateral sclerosis, as well as metabolic diseases, such as diabetes.
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Em] Entry month:1803
[Cu] Class update date: 180311
[Lr] Last revision date:180311
[St] Status:In-Data-Review
[do] DOI:10.1038/s41419-018-0406-3

  8 / 125161 MEDLINE  
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[PMID]: 29510741
[Au] Autor:Finno CJ; Gianino G; Perumbakkam S; Williams ZJ; Bordbari MH; Gardner KL; Burns E; Peng S; Durward-Akhurst SA; Valberg SJ
[Ad] Address:Department of Population Health and Reproduction, University of California, Davis SVM, Room 4206 Vet Med 3A, One Shields Ave, Davis, CA, 95616, USA. cjfinno@ucdavis.edu.
[Ti] Title:A missense mutation in MYH1 is associated with susceptibility to immune-mediated myositis in Quarter Horses.
[So] Source:Skelet Muscle;8(1):7, 2018 Mar 06.
[Is] ISSN:2044-5040
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:BACKGROUND: The cause of immune-mediated myositis (IMM), characterized by recurrent, rapid-onset muscle atrophy in Quarter Horses (QH), is unknown. The histopathologic hallmark of IMM is lymphocytic infiltration of myofibers. The purpose of this study was to identify putative functional variants associated with equine IMM. METHODS: A genome-wide association (GWA) study was performed on 36 IMM QHs and 54 breed matched unaffected QHs from the same environment using the Equine SNP50 and SNP70 genotyping arrays. RESULTS: A mixed model analysis identified nine SNPs within a ~ 2.87 Mb region on chr11 that were significantly (P < 1.4 × 10 ) associated with the IMM phenotype. Associated haplotypes within this region encompassed 38 annotated genes, including four myosin genes (MYH1, MYH2, MYH3, and MYH13). Whole genome sequencing of four IMM and four unaffected QHs identified a single segregating nonsynonymous E321G mutation in MYH1 encoding myosin heavy chain 2X. Genotyping of additional 35 IMM and 22 unaffected QHs confirmed an association (P = 2.9 × 10 ), and the putative mutation was absent in 175 horses from 21 non-QH breeds. Lymphocytic infiltrates occurred in type 2X myofibers and the proportion of 2X fibers was decreased in the presence of inflammation. Protein modeling and contact/stability analysis identified 14 residues affected by the mutation which significantly decreased stability. CONCLUSIONS: We conclude that a mutation in MYH1 is highly associated with susceptibility to the IMM phenotype in QH-related breeds. This is the first report of a mutation in MYH1 and the first link between a skeletal muscle myosin mutation and autoimmune disease.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180311
[Lr] Last revision date:180311
[St] Status:In-Data-Review
[do] DOI:10.1186/s13395-018-0155-0

  9 / 125161 MEDLINE  
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[PMID]: 29508455
[Au] Autor:Palma JA; Kaufmann H
[Ad] Address:Department of Neurology, Dysautonomia Center, New York University School of Medicine, New York, New York, USA.
[Ti] Title:Treatment of autonomic dysfunction in Parkinson disease and other synucleinopathies.
[So] Source:Mov Disord;33(3):372-390, 2018 Mar.
[Is] ISSN:1531-8257
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Dysfunction of the autonomic nervous system afflicts most patients with Parkinson disease and other synucleinopathies such as dementia with Lewy bodies, multiple system atrophy, and pure autonomic failure, reducing quality of life and increasing mortality. For example, gastrointestinal dysfunction can lead to impaired drug pharmacodynamics causing a worsening in motor symptoms, and neurogenic orthostatic hypotension can cause syncope, falls, and fractures. When recognized, autonomic problems can be treated, sometimes successfully. Discontinuation of potentially causative/aggravating drugs, patient education, and nonpharmacological approaches are useful and should be tried first. Pathophysiology-based pharmacological treatments that have shown efficacy in controlled trials of patients with synucleinopathies have been approved in many countries and are key to an effective management. Here, we review the treatment of autonomic dysfunction in patients with Parkinson disease and other synucleinopathies, summarize the nonpharmacological and current pharmacological therapeutic strategies including recently approved drugs, and provide practical advice and management algorithms for clinicians, with focus on neurogenic orthostatic hypotension, supine hypertension, dysphagia, sialorrhea, gastroparesis, constipation, neurogenic overactive bladder, underactive bladder, and sexual dysfunction. © 2018 International Parkinson and Movement Disorder Society.
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Em] Entry month:1803
[Cu] Class update date: 180311
[Lr] Last revision date:180311
[St] Status:In-Data-Review
[do] DOI:10.1002/mds.27344

  10 / 125161 MEDLINE  
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[PMID]: 29506508
[Au] Autor:Jung J; Kwon M; Bae S; Yim S; Lee D
[Ad] Address:Bio-Synergy Research Center, 291 Daehak-ro, Yuseong-gu, 305-701, Daejeon, Republic of Korea.
[Ti] Title:Petri net-based prediction of therapeutic targets that recover abnormally phosphorylated proteins in muscle atrophy.
[So] Source:BMC Syst Biol;12(1):26, 2018 Mar 05.
[Is] ISSN:1752-0509
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:BACKGROUND: Muscle atrophy, an involuntary loss of muscle mass, is involved in various diseases and sometimes leads to mortality. However, therapeutics for muscle atrophy thus far have had limited effects. Here, we present a new approach for therapeutic target prediction using Petri net simulation of the status of phosphorylation, with a reasonable assumption that the recovery of abnormally phosphorylated proteins can be a treatment for muscle atrophy. RESULTS: The Petri net model was employed to simulate phosphorylation status in three states, i.e. reference, atrophic and each gene-inhibited state based on the myocyte-specific phosphorylation network. Here, we newly devised a phosphorylation specific Petri net that involves two types of transitions (phosphorylation or de-phosphorylation) and two types of places (activation with or without phosphorylation). Before predicting therapeutic targets, the simulation results in reference and atrophic states were validated by Western blotting experiments detecting five marker proteins, i.e. RELA, SMAD2, SMAD3, FOXO1 and FOXO3. Finally, we determined 37 potential therapeutic targets whose inhibition recovers the phosphorylation status from an atrophic state as indicated by the five validated marker proteins. In the evaluation, we confirmed that the 37 potential targets were enriched for muscle atrophy-related terms such as actin and muscle contraction processes, and they were also significantly overlapping with the genes associated with muscle atrophy reported in the Comparative Toxicogenomics Database (p-value < 0.05). Furthermore, we noticed that they included several proteins that could not be characterized by the shortest path analysis. The three potential targets, i.e. BMPR1B, ROCK, and LEPR, were manually validated with the literature. CONCLUSIONS: In this study, we suggest a new approach to predict potential therapeutic targets of muscle atrophy with an analysis of phosphorylation status simulated by Petri net. We generated a list of the potential therapeutic targets whose inhibition recovers abnormally phosphorylated proteins in an atrophic state. They were evaluated by various approaches, such as Western blotting, GO terms, literature, known muscle atrophy-related genes and shortest path analysis. We expect the new proposed strategy to provide an understanding of phosphorylation status in muscle atrophy and to provide assistance towards identifying new therapies.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180311
[Lr] Last revision date:180311
[St] Status:In-Data-Review
[do] DOI:10.1186/s12918-018-0555-0


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