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Yongping Chen, Bei Cao, Ruwei Ou, Qianqian Wei, Xueping Chen, Bi Zhao, Ying Wu, Wei Song, Hui-Fang Shang
Large-scale meta-analyses of genome-wide association studies have identified several loci linked to sporadic Parkinson's disease (PD). However, the roles of some important loci, such as HNMT Thr105Ile, STK39 rs2390669, and NMD3 rs34016896, have not been clarified in Chinese populations. Accumulating evidence indicates that some common clinicopathological characteristics are shared by different neurodegenerative diseases. Consequently, we conducted a large sample study to investigate associations between these variants and PD, multiple system atrophy (MSA), and amyotrophic lateral sclerosis (ALS) in Chinese populations...
March 21, 2018: Journal of Molecular Neuroscience: MN
Mathieu Verdurand, Elise Levigoureux, Sophie Lancelot, Waël Zeinyeh, Thierry Billard, Isabelle Quadrio, Armand Perret-Liaudet, Luc Zimmer, Fabien Chauveau
The accumulation of aggregated alpha-synuclein ( α -syn) in multiple brain regions is a neuropathological hallmark of synucleinopathies. Multiple system atrophy (MSA) is a synucleinopathy characterized by the predominant cerebral accumulation of aggregated α -syn as cytoplasmic glial inclusions (CGI). A premortem diagnosis tool would improve early diagnosis and help monitoring disease progression and therapeutic efficacy. One Positron Emission Tomography (PET) study suggested [11 C]BF-227 as a promising radiotracer for monitoring intracellular α -syn deposition in MSA patients...
2018: Contrast Media & Molecular Imaging
Shilpa B Gaikwad, Eric G Johnson, Todd C Nelson, Oluwaseun I Ambode, Abdulaziz A Albalwi, Ahmad A Alharbi, Noha S Daher
BACKGROUND AND PURPOSE: Motion sensitivity is a common condition among the general population and may be accompanied by postural instability and anxiety. Preliminary studies suggest that minimal dosage of gaze stability exercises improves postural stability in young adults with chronic motion sensitivity. The aim of this study was to investigate the effect of progressive gaze stability exercises on postural stability, motion sensitivity, and anxiety in healthy young adults with chronic motion sensitivity...
April 2018: Journal of Neurologic Physical Therapy: JNPT
Ganbold Lundeg, Amanda Baric, David C Pescod, Keith Pescod
Anesthesia in Mongolia has undergone a period of major development over the past 17 years, thanks to the work of the Mongolian Society of Anesthesiologists (MSA) and the support of the World Federation of Societies of Anaesthesiologists and the Australian Society of Anaesthetists. The specialty has made major advances in training and in its standing among medical specialties in Mongolia. The MSA has produced members who are leaders in the development of anesthesia as well as emergency medicine and critical care...
April 2018: Anesthesia and Analgesia
Alan L Deino, Anna K Behrensmeyer, Alison S Brooks, John E Yellen, Warren D Sharp, Richard Potts
The origin of the Middle Stone Age (MSA) denotes the transition from a highly persistent mode of stone toolmaking, the Acheulean, to a period of increasing technological innovation and cultural indicators associated with the evolution of Homo sapiens Here we use40 Ar/39 Ar and U-series dating to calibrate the chronology of Acheulean- and early MSA-rich sedimentary deposits in the Olorgesailie Basin, South Kenya Rift. We establish the age of late Acheulean tool assemblages from 615 to 499 ka, after which a large technological and faunal transition occurred, with definitive MSA lacking Acheulean elements beginning most likely by ~320 ka, but at least by 305 ka...
March 15, 2018: Science
Richard Potts, Anna K Behrensmeyer, J Tyler Faith, Christian A Tryon, Alison S Brooks, John E Yellen, Alan L Deino, Rahab Kinyanjui, Jennifer B Clark, Catherine Haradon, Naomi E Levin, Hanneke J M Meijer, Elizabeth G Veatch, R Bernhart Owen, Robin W Renaut
Development of the African Middle Stone Age (MSA) before 300 thousand years ago (ka) raises the question of how environmental change influenced the evolution of behaviors characteristic of early Homo sapiens We use temporally well-constrained sedimentological and paleoenvironmental data to investigate environmental dynamics before and after the appearance of the early MSA in the Olorgesailie Basin, Kenya. In contrast to the Acheulean archeological record in the same basin, MSA sites are associated with a dramatically different faunal community, more pronounced erosion-deposition cycles, tectonic activity, and enhanced wet-dry variability...
March 15, 2018: Science
Jingjie Ge, Jianjun Wu, Shichun Peng, Ping Wu, Jian Wang, Huiwei Zhang, Yihui Guan, David Eidelberg, Chuantao Zuo, Yilong Ma
Progressive supranuclear palsy (PSP) is a rare movement disorder and often difficult to distinguish clinically from Parkinson's disease (PD) and multiple system atrophy (MSA) in early phases. In this study, we report reproducible disease-related topographies of brain network and regional glucose metabolism associated with PSP in clinically-confirmed independent cohorts of PSP, MSA, and PD patients and healthy controls in the USA and China. Using18 F-FDG PET images from PSP and healthy subjects, we applied spatial covariance analysis with bootstrapping to identify a PSP-related pattern (PSPRP) and estimate its reliability, and evaluated the ability of network scores for differential diagnosis...
March 13, 2018: Human Brain Mapping
Q Y Lao, M Sun, L Yu, J Wang
Objective: To investigate the clinicopathological characteristics and differential diagnosis of lipofibromatosis. Methods: The clinicopathological features and immunohistochemical profiles in 8 cases of lipofibromatosis diagnosed at Fudan University Shanghai Cancer Center from January 2008 to June 2017 were studied. Molecular analysis of β-catenin mutation by Sanger sequencing, NTKR1 and ETV6 rearrangements by FISH were performed. The follow up information was evaluated and the literature was reviewed. Results: There were 4 males and 4 females with a median age of 1...
March 8, 2018: Zhonghua Bing Li Xue za Zhi Chinese Journal of Pathology
Laurens J De Sadeleer, Ellen De Langhe, Nicolas Bodart, Alain Vigneron, Xavier Bossuyt, Wim A Wuyts
Although included in the serological domain of the 'interstitial pneumonia with auto-immune features' (IPAF) research statement, the search for myositis-specific antibodies (MSA) is not incorporated in routine clinical practice. The objective of the study was to evaluate MSA prevalence in an idiopathic interstitial pneumonia (IIP) cohort (n = 68) with suggestive morphological interstitial lung disease patterns. Twelve of 68 patients (17.6%) carried MSA, whereof only two were anti-nuclear antibody-positive...
March 12, 2018: Lung
Krushna Sonar, Ritika Kabra, Shailza Singh
TryTransDB is a web-based resource that stores transport protein data which can be retrieved using a standalone BLAST tool. We have attempted to create an integrated database that can be a one-stop shop for the researchers working with transport proteins of Trypanosomatidae family. TryTransDB (Trypanosomatidae Transport Protein Database) is a web based comprehensive resource that can fire a BLAST search against most of the transport protein sequences (protein and nucleotide) from Trypanosomatidae family organisms...
March 12, 2018: Scientific Reports
Chia-Ping Huang Yang, Changwei Wang, Iwao Ojima, Susan Band Horwitz
Several next-generation taxanes have been reported to possess high potency against Taxol-resistant cancer cell lines overexpressing βIII-tubulin and/or P-glycoprotein (P-gp), both of which are involved in drug resistance. Using a photoaffinity Taxol analogue, 2-( m-azidobenzoyl)taxol, two potent next-generation taxanes, SB-T-1214 and SB-CST-10202, exhibited distinct inhibitory effects on photolabeling of β-tubulin from different eukaryotic sources that differ in β-tubulin isotype composition. They also specifically inhibited photolabeling of P-gp, and the inhibitory effect correlated well with the steady-state accumulation of [3 H]vinblastine in a multidrug resistant (MDR) cell line, SKVLB1...
March 8, 2018: Journal of Natural Products
Latika Gupta, Smriti Chaurasia, Puja Srivastava, Sanjay Dwivedi, Able Lawrence, Ramnath Misra
We studied the serum levels of B cell survival factors BAFF and APRIL in patients with idiopathic inflammatory myositis (IIM) and their relation with clinical and autoantibodies. Seventy-five patients (51 females and 24 males) with IIM (Bohan and Peter's criteria 1975) and 25 healthy adults were analyzed for BAFF, APRIL and IL-17 by ELISA, and myositis-specific and associated antibodies (MSA and MAA) using line immunoblot assay. Of the 75 patients, 59 were adults, 42 had Dermatomyositis (DM), and 17 had Polymyositis...
March 7, 2018: Clinical Rheumatology
Christian Staehr, Lise Hangaard, Elena V Bouzinova, Sukhan Kim, Rajkumar Rajanathan, Peter Boegh Jessen, Nathan Luque, Zijian Xie, Karin Lykke-Hartmann, Shaun L Sandow, Christian Aalkjaer, Vladimir V Matchkov
Familial hemiplegic migraine type 2 (FHM2) is associated with inherited point-mutations in the Na,K-ATPase α2 isoform, including G301R mutation. We hypothesized that this mutation affects specific aspects of vascular function, and thus compared cerebral and systemic arteries from heterozygote mice bearing the G301R mutation (Atp1a2+/-G301R ) with wild type (WT). Middle cerebral (MCA) and mesenteric small artery (MSA) function was compared in an isometric myograph. Cerebral blood flow was assessed with Laser speckle analysis...
January 1, 2018: Journal of Cerebral Blood Flow and Metabolism
Viorica Chelban, Ekawat Vichayanrat, Lucia Schottlaende, Valeria Iodice, Henry Houlden
The discovery of genetic links between alpha-synuclein and PD has opened unprecedented opportunities for research into a new group of diseases, now collectively known as synucleinopathies. Autonomic dysfunction, including cardiac sympathetic denervation, has been reported in familial forms of synucleinopathies that have Lewy bodies at the core of their pathogenesis. SNCA mutations and multiplications, LRRK2 disease with Lewy bodies as well as other common, sporadic forms of idiopathic PD, MSA, pure autonomic failure, and dementia with Lewy bodies have all been associated with dysautonomia...
March 2018: Movement Disorders: Official Journal of the Movement Disorder Society
Gina Puska, Mirjam I Lutz, Kinga Molnar, Günther Regelsberger, Gerda Ricken, Walter Pirker, Lajos Laszlo, Gabor G Kovacs
Intracellular deposition of pathologically altered α-synuclein mostly in neurons characterises Parkinson's disease (PD), while its accumulation predominantly in oligodendrocytes is a feature of multiple system atrophy (MSA). Recently a prion-like spreading of pathologic α-synuclein has been suggested to play a role in the pathogenesis of PD and MSA. This implicates a role of protein processing systems, including lysosomes, supported also by genetic studies in PD. However, particularly for MSA, the mechanism of cell-to-cell propagation of α-synuclein is yet not fully understood...
March 2, 2018: Neurobiology of Disease
Elena Abati, Alessio Di Fonzo, Stefania Corti
Multiple system atrophy (MSA) is a rare neurodegenerative disease with a fatal outcome. Nowadays, only symptomatic treatment is available for MSA patients. The hallmarks of the disease are glial cytoplasmic inclusions (GCIs), proteinaceous aggregates mainly composed of alpha-synuclein, which accumulate in oligodendrocytes. However, despite the extensive research efforts, little is known about the pathogenesis of MSA. Early myelin dysfunction and alpha-synuclein deposition are thought to play a major role, but the origin of the aggregates and the causes of misfolding are obscure...
March 4, 2018: Journal of Cellular and Molecular Medicine
Swati Sharma, Vinita Hooda
Catalase is an essential antioxidant enzyme that is well characterized from microbial and animal sources. The structure of plant catalase is unknown. Therefore, it is of interest to understand the functional and structural characteristics of catalase from an Indian gooseberry, Phyllanthus emblica (or Emblica officinalis). Hence, catalase from P. emblica was cloned in pUC18 plasmid, sequenced and submitted to GenBank with the accession numbers "MF979112" and "ATO98311.1". InterProScan showed that the coding sequence is monofunctional and haem-dependent catalase-like superfamily...
2018: Bioinformation
X Zhou, C Wang, D Ding, Z Chen, Y Peng, H Peng, X Hou, P Wang, X Hou, W Ye, T Li, H Yang, R Qiu, K Xia, J Sequeiros, B Tang, H Jiang
Multiple system atrophy (MSA) is a complex and multifactorial neurodegenerative disease, and its pathogenesis remains uncertain. Patients with MSA or spinocerebellar ataxia (SCA) show overlapping clinical phenotypes. Previous studies have reported that intermediate or long CAG expansions in SCA genes have been associated with other neurodegenerative disease. In this study, we screened for the number of CAG repeats in ATXN1, 2 and 3 in 200 patients with MSA and 314 healthy controls to evaluate possible associations between (CAG)n in these three polyQ-related genes and MSA...
March 1, 2018: Scientific Reports
Bachir Balech, Alfonso Monaco, Michele Perniola, Monica Santamaria, Giacinto Donvito, Saverio Vicario, Giorgio Maggi, Graziano Pesole
Multiple sequence alignment (MSA) is a fundamental component in many DNA sequence analyses including metagenomics studies and phylogeny inference. When guided by protein profiles, DNA multiple alignments assume a higher precision and robustness. Here we present details of the use of the upgraded version of MSA-PAD (2.0), which is a DNA multiple sequence alignment framework able to align DNA sequences coding for single/multiple protein domains guided by PFAM or user-defined annotations. MSA-PAD has two alignment strategies, called "Gene" and "Genome," accounting for coding domains order and genomic rearrangements, respectively...
2018: Methods in Molecular Biology
Christian A Tryon, Jason E Lewis, Kathryn L Ranhorn, Amandus Kwekason, Bridget Alex, Myra F Laird, Curtis W Marean, Elizabeth Niespolo, Joelle Nivens, Audax Z P Mabulla
The archaeology of East Africa during the last ~65,000 years plays a central role in debates about the origins and dispersal of modern humans, Homo sapiens. Despite the historical importance of the region to these discussions, reliable chronologies for the nature, tempo, and timing of human behavioral changes seen among Middle Stone Age (MSA) and Later Stone Age (LSA) archaeological assemblages are sparse. The Kisese II rockshelter in the Kondoa region of Tanzania, originally excavated in 1956, preserves a ≥ 6-m-thick archaeological succession that spans the MSA/LSA transition, with lithic artifacts such as Levallois and bladelet cores and backed microliths, the recurrent use of red ochre, and >5,000 ostrich eggshell beads and bead fragments...
2018: PloS One
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