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https://www.readbyqxmd.com/read/29389559/the-apple-polyphenol-phloretin-inhibits-breast-cancer-cell-migration-and-proliferation-via-inhibition-of-signals-by-type-2-glucose-transporter
#1
Kuan-Hsun Wu, Chi-Tang Ho, Zhao-Feng Chen, Li-Ching Chen, Jacqueline Whang-Peng, Teng-Nan Lin, Yuan-Soon Ho
Human triple-negative breast cancer (TNBC) is the most aggressive and poorly understood subclass of breast cancer. Glucose transporters (GLUTs) are required for glucose uptake in malignant cancer cells and are ideal targets for cancer therapy. To determine whether the inhibition of GLUTs could be used in TNBC cell therapy, the apple polyphenol phloretin (Ph) was used as a specific antagonist of GLUT2 protein function in human TNBC cells. Interestingly, we found that Ph (10-150 μM, for 24 h) inhibited cell growth and arrested the cell cycle in MDA-MB-231 cells in a p53 mutant-dependent manner, which was confirmed by pre-treatment of the cells with a p53-specific dominant-negative expression vector...
January 2018: Journal of Food and Drug Analysis
https://www.readbyqxmd.com/read/29387530/connectivity-derived-thalamic-segmentation-in-deep-brain-stimulation-for-tremor
#2
Harith Akram, Viswas Dayal, Philipp Mahlknecht, Dejan Georgiev, Jonathan Hyam, Thomas Foltynie, Patricia Limousin, Enrico De Vita, Marjan Jahanshahi, John Ashburner, Tim Behrens, Marwan Hariz, Ludvic Zrinzo
The ventral intermediate nucleus (VIM) of the thalamus is an established surgical target for stereotactic ablation and deep brain stimulation (DBS) in the treatment of tremor in Parkinson's disease (PD) and essential tremor (ET). It is centrally placed on a cerebello-thalamo-cortical network connecting the primary motor cortex, to the dentate nucleus of the contralateral cerebellum through the dentato-rubro-thalamic tract (DRT). The VIM is not readily visible on conventional MR imaging, so identifying the surgical target traditionally involved indirect targeting that relies on atlas-defined coordinates...
2018: NeuroImage: Clinical
https://www.readbyqxmd.com/read/29362933/supplementary-motor-area-syndrome-after-surgery-for-parasagittal-meningiomas
#3
Jon Berg-Johnsen, Einar August Høgestøl
BACKGROUND: Resection within the supplementary motor area (SMA) may be accompanied by dramatic motor deficits and speech arrest when the dominant hemisphere is involved, termed the SMA syndrome. Typically, the muscle tone of the paralyzed extremities is preserved, and in most cases, a complete or near complete recovery is seen within a few months. The SMA syndrome has not been recognized for extra-axial tumor surgery in approximation of the SMA. METHODS: We observed the SMA syndrome in a patient operated for a parasagittal meningioma in the posterior frontal region, and this observation intrigued us to prospectively collect similar cases...
January 23, 2018: Acta Neurochirurgica
https://www.readbyqxmd.com/read/29322133/anti-fibrotic-activity-of-polyphenol-enriched-sugarcane-extract-in-rats-via-inhibition-of-p38-and-jnk-phosphorylation
#4
Liwen Wang, Min-Hsiung Pan, Chih-Yu Lo, Hui Zhao, Shiming Li, Chi-Tang Ho, Guliang Yang
Sugarcane (Saccharum officinarum L.), which is one of the most important sources of sugar, is also rich in polyphenolic compounds. In this study, polyphenols from sugarcane were extracted, and the dominant component was characterized quantitatively via HPLC to be (-)-epicatechin. Fibrosis occurs in many organs and is associated with severe tissue damage. Liver fibrosis is the excessive accumulation of extracellular matrix proteins and advanced liver fibrosis, resulting in cirrhosis, liver failure and portal hypertension...
January 11, 2018: Food & Function
https://www.readbyqxmd.com/read/29306600/a-missense-mutation-in-dync1h1-gene-causing-spinal-muscular-atrophy-lower-extremity-dominant
#5
Joyutpal Das, James B Lilleker, Kavaldeep Jabbal, John Ealing
Spinal muscular atrophy (SMA) is a hereditary neuromuscular disorder, which causes progressive muscle weakness and in severe cases respiratory failure and death. Although the majority of the SMA cases are autosomal recessive, there is an autosomal dominant variant of SMA that primarily affects the lower extremities, known as 'spinal muscular atrophy - lower extremity, dominant' (SMALED). Mutations in the Dynein Cytoplasmic 1 Heavy Chain 1 (DYNC1H1) gene were the first to be associated with SMALED. Here we report a family with SMALED caused by a pathogenic heterozygous missense c...
December 14, 2017: Neurologia i Neurochirurgia Polska
https://www.readbyqxmd.com/read/29273277/novel-bicd2-mutation-in-a-japanese-family-with-autosomal-dominant-lower-extremity-predominant-spinal-muscular-atrophy-2
#6
Mieko Yoshioka, Naoya Morisada, Daisaku Toyoshima, Hajime Yoshimura, Hisahide Nishio, Kazumoto Iijima, Yasuhiro Takeshima, Tomoko Uehara, Kenjiro Kosaki
INTRODUCTION: The most common form of spinal muscular atrophy (SMA) is a recessive disorder caused by SMN1 mutations in 5q13, whereas the genetic etiologies of non-5q SMA are very heterogenous and largely remain to be elucidated. We present a father and son with atrophy and weakness of the lower leg muscles since infancy. Genetic studies in this family revealed a novel BICD2 mutation causing autosomal dominant lower extremity-predominant SMA type 2. PATIENTS: The proband was the father, aged 30, and the son was aged 3...
December 19, 2017: Brain & Development
https://www.readbyqxmd.com/read/29123475/cerebello-cortical-differences-in-effective-connectivity-of-the-dominant-and-non-dominant-hand-during-a-visuomotor-paradigm-of-grip-force-control
#7
Eric Moulton, Cécile Galléa, Claire Kemlin, Romain Valabregue, Marc A Maier, Pavel Lindberg, Charlotte Rosso
Structural and functional differences are known to exist within the cortical sensorimotor networks with respect to the dominant vs. non-dominant hand. Similarly, the cerebellum, a key structure in the sensorimotor network with its cerebello-cortical connections, has been reported to respond differently when using the dominant vs. non-dominant hand. Several groups have already investigated causal interactions during diverse motor paradigms using effective connectivity but few have studied the larger visuomotor network, including key structures such as the parietal cortex and the cerebellum, with both hands...
2017: Frontiers in Human Neuroscience
https://www.readbyqxmd.com/read/29116158/optical-mapping-of-the-dominant-frequency-of-brain-signal-oscillations-in-motor-systems
#8
Feng-Mei Lu, Yi-Feng Wang, Juan Zhang, Hua-Fu Chen, Zhen Yuan
Recent neuroimaging studies revealed that the dominant frequency of neural oscillations is brain-region-specific and can vary with frequency-specific reorganization of brain networks during cognition. In this study, we examined the dominant frequency in low-frequency neural oscillations represented by oxygenated hemoglobin measurements after the hemodynamic response function (HRF) deconvolution. Twenty-nine healthy college subjects were recruited to perform a serial finger tapping task at the frequency of 0...
November 7, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29075911/-histopathological-correlation-of-epiretinal-tissue-in-lamellar-macular-holes-and-macular-pseudoholes
#9
REVIEW
R G Schumann, D Vogt, C Haritoglou, F Hagenau, J Siedlecki, A Wolf, S G Priglinger
BACKGROUND: Using high-resolution spectral domain optical coherence tomography (SD-OCT), morphologically different types of epiretinal tissue can be distinguished in lamellar macular holes (LMH) and macular pseudoholes (MPH). OBJECTIVE: This article presents the results of histopathological characterization and differentiation of epiretinal tissue in eyes with LMH and MPH, which are classified based on a morphological differentiation in SD-OCT. MATERIAL AND METHODS: This review is based on the currently available literature and own data analyses...
October 26, 2017: Der Ophthalmologe: Zeitschrift der Deutschen Ophthalmologischen Gesellschaft
https://www.readbyqxmd.com/read/29070895/language-lateralization-during-the-chinese-semantic-task-relates-to-the-contralateral-cerebra-cerebellar-interactions-at-rest
#10
Qing Gao, Zhongping Tao, Lintao Cheng, Jinsong Leng, Junping Wang, Chunshui Yu, Huafu Chen
Aiming to investigate whether handedness-related language lateralization is related to the intrinsic resting-state functional connectivity (RSFC) pattern within the language network, the present study integrated the information of functional activations during a semantic task of Chinese characters and FC in resting-state based on functional magnetic resonance imaging (fMRI) data of healthy left handers (LH) and right handers (RH). RSFC was calculated on a voxel-based level between the seed regions chosen from functional activations during the task and the rest of the brain...
October 25, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28883039/disease-associated-mutations-in-human-bicd2-hyperactivate-motility-of-dynein-dynactin
#11
Walter Huynh, Ronald D Vale
Bicaudal D2 (BICD2) joins dynein with dynactin into a ternary complex (termed DDB) capable of processive movement. Point mutations in the BICD2 gene have been identified in patients with a dominant form of spinal muscular atrophy, but how these mutations cause disease is unknown. To investigate this question, we have developed in vitro motility assays with purified DDB and BICD2's membrane vesicle partner, the GTPase Rab6a. Rab6a-GTP, either in solution or bound to artificial liposomes, released BICD2 from an autoinhibited state and promoted robust dynein-dynactin transport...
October 2, 2017: Journal of Cell Biology
https://www.readbyqxmd.com/read/28807459/rapidly-progressive-atherosclerosis-after-domino-liver-transplantation-from-a-teenage-donor-with-homozygous-familial-hypercholesterolemia
#12
Jessica R Golbus, Linda Farhat, Robert J Fontana, Melvyn Rubenfire
Familial hypercholesterolemia (FH) is an autosomal dominant disorder characterized by impaired clearance of low-density lipoprotein cholesterol. Given limitations in pharmacologic therapy and the significant morbidity and mortality associated with this disease, liver transplantation may be offered to select homozygous FH patients in childhood in an effort to slow progression of atherosclerotic cardiovascular disease. In rare cases, domino liver transplantation can be performed, transplanting the livers of patients with various metabolic disorders into elderly recipients whose projected survival precludes prolonged waiting on the transplant list...
September 2017: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/28792153/clinical-characteristics-of-spinal-muscular-atrophy-in-korea-confirmed-by-genetic-analysis
#13
Heewon Hwang, Jung Hwan Lee, Young Chul Choi
The objective of this study was to review the clinical characteristics of patients with spinal muscular atrophy and to emphasize the importance of performing genetic mutational analysis at initial patient assessment. This is a single center oriented, retrospective, and descriptive study conducted in Seoul, South Korea. Genetic mutational analysis to detect the deletion of exon 7 of the SMN1 gene on chromosome 5q13 was performed by multiplex ligation-dependent probe amplification. Clinical features, electrodiagnostic study results, muscle biopsy results, and laboratory test results were reviewed from patient medical records...
September 2017: Yonsei Medical Journal
https://www.readbyqxmd.com/read/28723302/why-use-group-visits-for-opioid-use-disorder-treatment-in-primary-care-a-patient-centered-qualitative-study
#14
Randi Sokol, Chiara Albanese, Deviney Chaponis, Jessica Early, George Maxted, Diana Morrill, Grace Poirier, Fran Puopolo, Zev Schuman-Olivier
BACKGROUND: Primary care providers are well positioned to respond to the opioid crisis by providing buprenorphine/naloxone (B/N) through shared medical appointments (SMA). While quantitative research has been previously conducted on SMAs with B/N, we conducted a qualitative assessment from the patients' point of view, considering whether and how group visits provide value for patients. METHODS: Twenty-five participants with opioid use disorder (OUD) who were enrolled in a weekly B/N group visit at a family medicine clinic participated in either of two one-hour-long focus groups, which were conducted as actual group visits...
July 19, 2017: Substance Abuse
https://www.readbyqxmd.com/read/28635954/phenotypic-extremes-of-bicd2-opathies-from-lethal-congenital-muscular-atrophy-with-arthrogryposis-to-asymptomatic-with-subclinical-features
#15
Markus Storbeck, Beate Horsberg Eriksen, Andreas Unger, Irmgard Hölker, Ingvild Aukrust, Lilian A Martínez-Carrera, Wolfgang A Linke, Andreas Ferbert, Raoul Heller, Matthias Vorgerd, Gunnar Houge, Brunhilde Wirth
Heterozygous variants in BICD cargo adapter 2 (BICD2) cause autosomal dominant spinal muscular atrophy, lower extremity-predominant 2 (SMALED2). The disease is usually characterized by a benign or slowly progressive, congenital or early onset muscle weakness and atrophy that mainly affects the lower extremities, although some affected individuals show involvement of the arms and the shoulder girdle. Here we report unusual extremes of BICD2-related diseases: A severe form of congenital muscular atrophy with arthrogryposis multiplex, respiratory insufficiency and lethality within four months...
September 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28611571/exosomes-and-homeostatic-synaptic-plasticity-are-linked-to-each-other-and-to-huntington-s-parkinson-s-and-other-neurodegenerative-diseases-by-database-enabled-analyses-of-comprehensively-curated-datasets
#16
James K T Wang, Peter Langfelder, Steve Horvath, Michael J Palazzolo
Huntington's disease (HD) is a progressive and autosomal dominant neurodegeneration caused by CAG expansion in the huntingtin gene (HTT), but the pathophysiological mechanism of mutant HTT (mHTT) remains unclear. To study HD using systems biological methodologies on all published data, we undertook the first comprehensive curation of two key PubMed HD datasets: perturbation genes that impact mHTT-driven endpoints and therefore are putatively linked causally to pathogenic mechanisms, and the protein interactome of HTT that reflects its biology...
2017: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/28607608/clinical-features-pathological-findings-and-treatment-of-recurrent-dermatofibrosarcoma-protuberans
#17
Yanan Li, Chuan Wang, Bo Xiang, Siyuan Chen, Li Li, Yi Ji
Dermatofibrosarcoma protuberans (DESP) is a relatively rare and low-grade tumor of the skin and soft tissue. We review the clinical features, pathological findings and management of recurrent DESP with the aim to improve our understanding of this rare tumor. Fifty-seven patients were diagnosed with recurrent DFSP. The mean age at the presentation of DFSP was 30.9 years. The mean age at diagnosis of DFSP was 40.2 years. Chest wall was the dominant location. The histopathological diagnosis was ordinary DFSP (O-DFSP) in 46 cases and fibrosarcomatous DFSP (FS-DFSP) in 11 cases...
2017: Journal of Cancer
https://www.readbyqxmd.com/read/28606400/autosomal-dominant-distal-myopathy-due-to-a-novel-acta1-mutation
#18
Teerin Liewluck, Eric J Sorenson, Magdalena A Walkiewicz, Kandelaria M Rumilla, Margherita Milone
Mutations in skeletal muscle α-actin 1-encoding gene (ACTA1) cause autosomal dominant or recessive myopathies with marked clinical and pathological heterogeneity. Patients typically develop generalized or limb-girdle pattern of weakness, but recently a family with scapuloperoneal myopathy was reported. We describe a father and 2 children with childhood-to-juvenile onset distal myopathy, carrying a novel dominant ACTA1 variant, c.757G>C (p.Gly253Arg). Father had delayed motor development and developed significant proximal weakness later in life; he was initially misdiagnosed as having spinal muscular atrophy based on electromyographic findings...
May 5, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28594869/compound-heterozygous-mutations-in-glycyl-trna-synthetase-gars-cause-mitochondrial-respiratory-chain-dysfunction
#19
Michael Nafisinia, Lisa G Riley, Wendy A Gold, Kaustuv Bhattacharya, Carolyn R Broderick, David R Thorburn, Cas Simons, John Christodoulou
Glycyl-tRNA synthetase (GARS; OMIM 600287) is one of thirty-seven tRNA-synthetase genes that catalyses the synthesis of glycyl-tRNA, which is required to insert glycine into proteins within the cytosol and mitochondria. To date, eighteen mutations in GARS have been reported in patients with autosomal-dominant Charcot-Marie-Tooth disease type 2D (CMT2D; OMIM 601472), and/or distal spinal muscular atrophy type V (dSMA-V; OMIM 600794). In this study, we report a patient with clinical and biochemical features suggestive of a mitochondrial respiratory chain (MRC) disorder including mild left ventricular posterior wall hypertrophy, exercise intolerance, and lactic acidosis...
2017: PloS One
https://www.readbyqxmd.com/read/28554554/expanding-the-phenotypic-spectrum-associated-with-mutations-of-dync1h1
#20
Sarah J Beecroft, Catriona A McLean, Martin B Delatycki, Kurian Koshy, Eppie Yiu, Goknur Haliloglu, Diclehan Orhan, Phillipa J Lamont, Mark R Davis, Nigel G Laing, Gianina Ravenscroft
Autosomal dominant mutations of DYNC1H1 cause a range of neurogenetic diseases, including mental retardation with cortical malformations, hereditary spastic paraplegia and spinal muscular atrophy. Using SNP array, linkage analysis and next generation sequencing, we identified two families and one isolated proband sharing a known spinal muscular atrophy, lower extremity predominant (SMALED) causing mutation DYNC1H1 c.1792C>T, p.Arg598Cys, and another family harbouring a c.2327C>T, p.Pro776Leu mutation...
July 2017: Neuromuscular Disorders: NMD
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