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https://www.readbyqxmd.com/read/28817800/tia1-mutations-in-amyotrophic-lateral-sclerosis-and-frontotemporal-dementia-promote-phase-separation-and-alter-stress-granule-dynamics
#1
Ian R Mackenzie, Alexandra M Nicholson, Mohona Sarkar, James Messing, Maria D Purice, Cyril Pottier, Kavya Annu, Matt Baker, Ralph B Perkerson, Aishe Kurti, Billie J Matchett, Tanja Mittag, Jamshid Temirov, Ging-Yuek R Hsiung, Charles Krieger, Melissa E Murray, Masato Kato, John D Fryer, Leonard Petrucelli, Lorne Zinman, Sandra Weintraub, Marsel Mesulam, Julia Keith, Sasha A Zivkovic, Veronica Hirsch-Reinshagen, Raymond P Roos, Stephan Züchner, Neill R Graff-Radford, Ronald C Petersen, Richard J Caselli, Zbigniew K Wszolek, Elizabeth Finger, Carol Lippa, David Lacomis, Heather Stewart, Dennis W Dickson, Hong Joo Kim, Ekaterina Rogaeva, Eileen Bigio, Kevin B Boylan, J Paul Taylor, Rosa Rademakers
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are age-related neurodegenerative disorders with shared genetic etiologies and overlapping clinical and pathological features. Here we studied a novel ALS/FTD family and identified the P362L mutation in the low-complexity domain (LCD) of T cell-restricted intracellular antigen-1 (TIA1). Subsequent genetic association analyses showed an increased burden of TIA1 LCD mutations in ALS patients compared to controls (p = 8.7 × 10(-6)). Postmortem neuropathology of five TIA1 mutations carriers showed a consistent pathological signature with numerous round, hyaline, TAR DNA-binding protein 43 (TDP-43)-positive inclusions...
August 16, 2017: Neuron
https://www.readbyqxmd.com/read/28817703/quality-of-life-of-inguinal-hernia-patients-in-taiwan-the-application-of-the-hernia-specific-quality-of-life-assessment-instrument
#2
Chi-Cheng Huang, Feng-Chuan Tai, Tzung-Hsin Chou, Heng-Hui Lien, Jaan-Yeh Jeng, Thien-Fiew Ho, Ching-Shui Huang
BACKGROUND: With the development of prosthetic mesh and tension free techniques, the recurrence rate following inguinal hernia repair has been reduced, and hernia outcomes research should focus on post-operative quality of life and potential complications. STUDY DESIGN: A novel hernia quality of life assessment instrument, HERQL, was developed. The HERQL questionnaire comprises a 4-item summative pain score measuring pain and discomfort resulting from various strenuous activities...
2017: PloS One
https://www.readbyqxmd.com/read/28817690/resveratrol-and-caloric-restriction-prevent-hepatic-steatosis-by-regulating-sirt1-autophagy-pathway-and-alleviating-endoplasmic-reticulum-stress-in-high-fat-diet-fed-rats
#3
Shibin Ding, Jinjin Jiang, Guofu Zhang, Yongjun Bu, Guanghui Zhang, Xiangmei Zhao
BACKGROUND: Studies have demonstrated that resveratrol (a natural polyphenol) and caloric restriction activate Sirtuin-1 (SIRT1) and induce autophagy. Furthermore, autophagy is induced by the SIRT1-FoxO signaling pathway and was recently shown to be a critical protective mechanism against non-alcoholic fatty liver disease (NAFLD) development. We aimed to compare the effects of resveratrol and caloric restriction on hepatic lipid metabolism and elucidate the mechanism by which resveratrol supplementation and caloric restriction alleviate hepatosteatosis by examining the molecular interplay between SIRT1 and autophagy...
2017: PloS One
https://www.readbyqxmd.com/read/28817678/family-based-exome-wide-association-study-of-childhood-acute-lymphoblastic-leukemia-among-hispanics-confirms-role-of-arid5b-in-susceptibility
#4
Natalie P Archer, Virginia Perez-Andreu, Ulrik Stoltze, Michael E Scheurer, Anna V Wilkinson, Ting-Nien Lin, Maoxiang Qian, Charnise Goodings, Michael D Swartz, Nalini Ranjit, Karen R Rabin, Erin C Peckham-Gregory, Sharon E Plon, Pedro A de Alarcon, Ryan C Zabriskie, Federico Antillon-Klussmann, Cesar R Najera, Jun J Yang, Philip J Lupo
We conducted an exome-wide association study of childhood acute lymphoblastic leukemia (ALL) among Hispanics to confirm and identify novel variants associated with disease risk in this population. We used a case-parent trio study design; unlike more commonly used case-control studies, this study design is ideal for avoiding issues with population stratification bias among this at-risk ethnic group. Using 710 individuals from 323 Guatemalan and US Hispanic families, two inherited SNPs in ARID5B reached genome-wide level significance: rs10821936, RR = 2...
2017: PloS One
https://www.readbyqxmd.com/read/28817638/the-transcriptional-profiling-of-human-in-vivo-generated-plasma-cells-identifies-selective-imbalances-in-monoclonal-gammopathies
#5
Luis M Valor, Beatriz Rodríguez-Bayona, Ana B Ramos-Amaya, José A Brieva, Antonio Campos-Caro
Plasma cells (PC) represent the heterogeneous final stage of the B cells (BC) differentiation process. To characterize the transition of BC into PC, transcriptomes from human naïve BC were compared to those of three functionally-different subsets of human in vivo-generated PC: i) tonsil PC, mainly consisting of early PC; ii) PC released to the blood after a potent booster-immunization (mostly cycling plasmablasts); and, iii) bone marrow CD138+ PC that represent highly mature PC and include the long-lived PC compartment...
2017: PloS One
https://www.readbyqxmd.com/read/28817611/the-directed-migration-of-gonadal-distal-tip-cells-in-caenorhabditis-elegans-requires-ngat-1-a-%C3%A3-1-4-n-acetylgalactosaminyltransferase-enzyme
#6
Joseph Veyhl, Robert J Dunn, Wendy L Johnston, Alexa Bennett, Lijia W Zhang, James W Dennis, Harry Schachter, Joseph G Culotti
Glycoproteins such as growth factor receptors and extracellular matrix have well-known functions in development and cancer progression, however, the glycans at sites of modification are often heterogeneous molecular populations which makes their functional characterization challenging. Here we provide evidence for a specific, discrete, well-defined glycan modification and regulation of a stage-specific cell migration in Caenorhabditis elegans. We show that a chain-terminating, putative null mutation in the gene encoding a predicted β1,4-N-acetylgalactosaminyltransferase, named ngat-1, causes a maternally rescued temperature sensitive (ts) defect in the second phase of the three phase migration pattern of the posterior, but not the anterior, hermaphrodite Distal Tip Cell (DTC)...
2017: PloS One
https://www.readbyqxmd.com/read/28817603/expression-of-the-mhc-class-ii-in-triple-negative-breast-cancer-is-associated-with-tumor-infiltrating-lymphocytes-and-interferon-signaling
#7
In Ah Park, Seong-Hye Hwang, In Hye Song, Sun-Hee Heo, Young-Ae Kim, Won Seon Bang, Hye Seon Park, Miseon Lee, Gyungyub Gong, Hee Jin Lee
Tumor-infiltrating lymphocytes (TILs) have been known for their strong prognostic and predictive significance in triple-negative breast cancer (TNBC). Several mechanisms for TIL influx in TNBC have been elucidated. Major histocompatibility complex class II (MHC-II) is an essential component of the adaptive immune system and is generally restricted to the surface of antigen-presenting cells. However, it has been reported that interferon-gamma signaling may induce MHC-II in almost all cell types, including those derived from cancer...
2017: PloS One
https://www.readbyqxmd.com/read/28817596/potential-effects-of-climate-change-on-members-of-the-palaeotropical-pitcher-plant-family-nepenthaceae
#8
Laura K Gray, Charles Clarke, G R William Wint, Jonathan A Moran
Anthropogenic climate change is predicted to have profound effects on species distributions over the coming decades. In this paper, we used maximum entropy modelling (Maxent) to estimate the effects of projected changes in climate on extent of climatically-suitable habitat for two Nepenthes pitcher plant species in Borneo. The model results predicted an increase in area of climatically-suitable habitat for the lowland species Nepenthes rafflesiana by 2100; in contrast, the highland species Nepenthes tentaculata was predicted to undergo significant loss of climatically-suitable habitat over the same period...
2017: PloS One
https://www.readbyqxmd.com/read/28817496/lived-experiences-of-muscle-tightness-symptoms-from-patients-perspectives
#9
Rozina Bhimani, Lisa Carney-Anderson
The aims of this study were to understand symptoms of chronic muscle tightness from the patient's perspective and explore symptom management strategies used by them. Muscle tightness, a common symptom, is a challenge to manage in clinical practice because it is commingled with other orthopedic conditions. Nurses may not be aware of the negative impact of tight muscles because this symptom is presumed to be self-limiting; however, if not treated appropriately, muscle tightness can become chronic. The focus of this study is the lived experience of patients with chronic muscle tightness...
August 16, 2017: Journal of Neuroscience Nursing: Journal of the American Association of Neuroscience Nurses
https://www.readbyqxmd.com/read/28817343/suppression-of-choroidal-neovascularization-in-mice-by-subretinal-delivery-of-multigenic-lentiviral-vectors-encoding-anti-angiogenic-micrornas
#10
Anne Louise Askou, Josephine Natalia Esther Benckendorff, Andreas Holmgaard, Tina Storm, Lars Aagaard, Toke Bek, Jacob Giehm Mikkelsen, Thomas Juhl Corydon
Lentivirus-based vectors have been used for the development of potent gene therapies. Here, application of a multigenic lentiviral vector (LV) producing multiple anti-angiogenic microRNAs following subretinal delivery in a laser-induced choroidal neovascularization (CNV) mouse model is presented. This versatile LV, carrying back-to-back RNApolII-driven expression cassettes, enables combined expression of microRNAs targeting vascular endothelial growth factor A (Vegfa) mRNA and fluorescent reporters. In addition, by including a vitelliform macular dystrophy 2 (VMD2) promoter, expression of microRNAs is restricted to the retinal pigment epithelial (RPE) cells...
August 2017: Human Gene Therapy Methods
https://www.readbyqxmd.com/read/28817295/does-the-offer-of-free-prescriptions-increase-generic-prescribing
#11
Bruce Stuart, Franklin Hendrick, J Samantha Dougherty, Jing Xu
OBJECTIVES: To test if offering zero generic co-pays for oral antidiabetic drugs (OADs) and statins increases generic dispensing for low-income subsidy (LIS) recipients with diabetes enrolled in Medicare Part D. STUDY DESIGN: We analyzed a natural experiment in which LIS recipients were randomized to Part D plans in 2008. Some plans placed selected generic OADs and statins on zero co-pay tiers whereas others did not. Randomization eliminated selection effects which could bias the study findings...
June 1, 2017: American Journal of Managed Care
https://www.readbyqxmd.com/read/28817222/heavily-substituted-atropisomeric-diarylamines-by-unactivated-smiles-rearrangement-of-n-aryl-anthranilamides
#12
Romain Costil, Harvey Dale, Natalie Fey, George Whitcombe, Johnathan Matlock, Jonathan Clayden
Diarylamines find use as metal ligands and as structural components of drug molecules, and are commonly made by metal catalyzed C-N coupling. However, the limited tolerance to steric hindrance of these couplings restricts the synthetic availability of more substituted diarylamines. Here we report a remarkable variant of the Smiles rearrangement that employs readily accessible N-aryl anthranilamides as precursors to diarylamines. Conformational predisposition of the anthranilamide starting material brings the aryl rings into proximity and allows the rearrangement to take place despite the absence of electron-withdrawing substituents, and even with sterically encumbered doubly ortho-substituted substrates...
August 17, 2017: Angewandte Chemie
https://www.readbyqxmd.com/read/28817123/evaluation-of-telomere-length-in-human-cardiac-tissues-using-cardiac-quantitative-fish
#13
Maryam Sharifi-Sanjani, Alan K Meeker, Foteini Mourkioti
Telomere length has been correlated with various diseases, including cardiovascular disease and cancer. The use of currently available telomere-length measurement techniques is often restricted by the requirement of a large amount of cells (Southern-based techniques) or the lack of information on individual cells or telomeres (PCR-based methods). Although several methods have been used to measure telomere length in tissues as a whole, the assessment of cell-type-specific telomere length provides valuable information on individual cell types...
September 2017: Nature Protocols
https://www.readbyqxmd.com/read/28816969/immediate-breast-reconstruction-with-omental-flap-for-luminal-breast-cancer-patients-ten-clinical-case-reports
#14
Nanlin Li, Zhao Zheng, Jipeng Li, Jing Fan, Ting Wang, Juliang Zhang, Hui Wang, Jianghao Chen, Yonggang Lv, Jun Yi, Meiling Huang, Rui Ling
RATIONALE: Luminal subtype breast cancer, accounting for 70 to 80% of all breast cancers, has been reported to be associated with good prognosis. However, for the patients with large mass or worse mass position, omental flap transplantation may provide a new option for breast reconstruction. PATIENT CONCERNS: Ten patients (6 luminal B1, 2 luminal B2, 2 luminal A), were enrolled into the study, between January 23, 2015 and August 22, 2016. The mean age was 34.6 ± 6...
August 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28816939/correlations-of-icam-1-gene-polymorphisms-with-susceptibility-and-multidrug-resistance-in-colorectal-cancer-in-a-chinese-population
#15
Lu-Bing Liu, Tong Liu, Fu-Ze Xin
BACKGROUND: Colorectal cancer (CRC) is a malignant gastrointestinal tumor with a high mortality rate, including both colon and rectal cancer. In order to provide clinical guidance for the treatment of CRC, this study is conducted to investigate the correlations of intercellular adhesion molecule 1 (ICAM-1) gene polymorphisms with susceptibility and multidrug resistance (MDR) of colorectal cancer (CRC). METHODS: A total of 195 patients with CRC were selected as the observation group and 188 healthy people enrolled as the control group...
August 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28816935/perimesencephalic-nonaneurysmal-subarachnoid-hemorrhage-caused-by-transverse-sinus-thrombosis-a-case-report-and-review-of-literature
#16
Fang-Wang Fu, Jie Rao, Yuan-Yuan Zheng, Liang Song, Wei Chen, Qi-Hui Zhou, Jian-Guang Yang, Jiang-Qiong Ke, Guo-Qing Zheng
RATIONALE: Perimesencephalic nonaneurysmal subarachnoid hemorrhage (PNSAH) is characterized by a pattern of extravasated blood restricted to the perimesencephalic cisterns, normal angiographic findings, and an excellent prognosis with an uneventful course and low risks of complication. The precise etiology of bleeding in patients with PNSAH has not yet been established. The most common hypothesis is that PNSAH is venous in origin. Intracranial venous hypertension has been considered as the pivotal factor in the pathogenesis of PNSAH...
August 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28816898/timing-of-postoperative-mechanical-loading-affects-healing-following-anterior-cruciate-ligament-reconstruction-analysis-in-a-murine-model
#17
Christopher L Camp, Amir Lebaschi, Guang-Ting Cong, Zoe Album, Camila Carballo, Xiang-Hua Deng, Scott A Rodeo
BACKGROUND: Following anterior cruciate ligament (ACL) reconstruction, the mechanical loading of the tissues has a significant impact on tendon-to-bone healing. The purpose of this study was to determine the effect of the timing of the initiation of mechanical loading on healing of a tendon graft in a bone tunnel. METHODS: ACL reconstruction using a flexor tendon autograft was performed in 56 mice randomized to 4 groups with differing times to initiation of postoperative mechanical loading: (1) immediate, (2) 5 days, (3) 10 days, or (4) 21 days following surgery...
August 16, 2017: Journal of Bone and Joint Surgery. American Volume
https://www.readbyqxmd.com/read/28816772/a-case-of-lenticulostriate-stroke-due-to-minor-closed-head-injury-in-a-2-year-old-child-role-of-mineralizing-angiopathy
#18
Emin Fidan, Dana D Cummings, Mioara D Manole
OBJECTIVE: Cerebral infarction due to minor head injury is rare. Mineralizing angiopathy is considered a predisposing factor for lenticulostriate stroke after minor closed head injury. This entity is characterized by infarction of the basal ganglia and most often occurs in young children, from infancy to 2 years of age. Symptoms usually occur immediately after the injury. METHODS AND RESULTS: We present the case of a previously healthy 2-year-old female child presenting with right facial hemiparesis and aphasia, along with right arm and leg weakness that occurred immediately after a fall from the couch onto a carpeted floor...
July 3, 2017: Pediatric Emergency Care
https://www.readbyqxmd.com/read/28816675/adaboost-llp-a-boosting-method-for-learning-with-label-proportions
#19
Zhiquan Qi, Fan Meng, Yingjie Tian, Lingfeng Niu, Yong Shi, Peng Zhang
How to solve the classification problem with only label proportions has recently drawn increasing attention in the machine learning field. In this paper, we propose an ensemble learning strategy to deal with the learning problem with label proportions (LLP). In detail, we first give a loss function based on different weights for LLP, and then construct the corresponding weak classifier, at the same time, estimate its conditional probabilities by a standard logistic function. At last, by introducing the maximum likelihood estimation, we propose a new anyboost learning system for LLP (called Adaboost-LLP)...
August 15, 2017: IEEE Transactions on Neural Networks and Learning Systems
https://www.readbyqxmd.com/read/28816655/gaussian-process-morphable-models
#20
Marcel Luthi, Thomas Gerig, Christoph Jud, Thomas Vetter
Models of shape variations have become a central component for the automated analysis of images. An important class of shape models are point distribution models (PDMs). These models represent a class of shapes as a normal distribution of point variations, whose parameters are estimated from example shapes. Principal component analysis (PCA) is applied to obtain a low-dimensional representation of the shape variation in terms of the leading principal components. In this paper, we propose a generalization of PDMs, which we refer to as Gaussian Process Morphable Models (GPMMs)...
August 14, 2017: IEEE Transactions on Pattern Analysis and Machine Intelligence
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