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Joseph Ochaba, Eva L Morozko, Jacqueline G O'Rourke, Leslie M Thompson
The accumulation of misfolded proteins is central to pathology in Huntington's disease (HD) and many other neurodegenerative disorders. Specifically, a key pathological feature of HD is the aberrant accumulation of mutant HTT (mHTT) protein into high molecular weight complexes and intracellular inclusion bodies composed of fragments and other proteins. Conventional methods to measure and understand the contributions of various forms of mHTT-containing aggregates include fluorescence microscopy, western blot analysis, and filter trap assays...
February 27, 2018: Journal of Visualized Experiments: JoVE
Angela Ju, Mark Unruh, Sara Davison, Juan Dapueto, Mary Amanda Dew, Richard Fluck, Michael Germain, Sarbjit V Jassal, Gregorio Obrador, Donal O'Donoghue, Michelle A Josephson, Jonathan C Craig, Andrea Viecelli, Emma O'Lone, Camilla S Hanson, Braden Manns, Benedicte Sautenet, Martin Howell, Bharathi Reddy, Caroline Wilkie, Claudia Rutherford, Allison Tong
Fatigue is one of the most highly prioritized outcomes for patients and clinicians, but remains infrequently and inconsistently reported across trials in hemodialysis. We convened an international Standardized Outcomes in Nephrology-Hemodialysis (SONG-HD) consensus workshop with stakeholders to discuss the development and implementation of a core outcome measure for fatigue. 15 patients/caregivers and 42 health professionals (clinicians, researchers, policy makers, and industry representatives) from 9 countries participated in breakout discussions...
March 15, 2018: American Journal of Kidney Diseases: the Official Journal of the National Kidney Foundation
Lichen Zhang, Xiaoqing Zhang, Guoling You, Yongguo Yu, Qihua Fu
BACKGROUND: Williams-Beuren syndrome (WBS) is caused by a microdeletion of chromosome arm 7q11.23. A rapid and inexpensive genotyping method to detect microdeletion on 7q11.23 needs to be developed for the diagnosis of WBS. This study describes the development of a new type of molecular diagnosis method to detect microdeletion on 7q11.23 based upon high-resolution melting (HRM). METHODS: Four genes on 7q11.23 were selected as the target genes for the deletion genotyping...
March 14, 2018: Clinica Chimica Acta; International Journal of Clinical Chemistry
H Song, L Li, P Ma, S Zhang, G Su, M S Lund, Q Zhang, X Ding
This study investigated the efficiency of genomic prediction with adding the markers identified by genome-wide association study (GWAS) using a data set of imputed high-density (HD) markers from 54K markers in Chinese Holsteins. Among 3,056 Chinese Holsteins with imputed HD data, 2,401 individuals born before October 1, 2009, were used for GWAS and a reference population for genomic prediction, and the 220 younger cows were used as a validation population. In total, 1,403, 1,536, and 1,383 significant single nucleotide polymorphisms (SNP; false discovery rate at 0...
March 14, 2018: Journal of Dairy Science
Amine Harichane, Dorian Chauvet, Stéphane Hans
This study was made to assess the possibilities and limits of minimally invasive transoral approach to the nasopharynx using the Da Vinci surgical robot. It was conducted on eleven corpses, without need for palatine split; using surgical robots Da Vinci models S HD and Si HD. We have defined "anatomical key landmarks" on all sides of the nasopharynx, to confirm our hypothesis. All of the nasopharynx could be visualized and transorally reached by the robot with a validation of all the key landmarks...
March 16, 2018: Journal of Robotic Surgery
Palak J Trivedi, Ralf Kiesslich, James Hodson, Neeraj Bhala, Ralph A Boulton, Rachel Cooney, Xianyong Gui, Tariq Iqbal, Ka-Kit Li, Saqib Mumtaz, Shri Pathmakanthan, Mohammed Nabil Quraishi, Vandana M Sagar, Ashit Shah, Naveen Sharma, Keith Siau, Samuel Smith, Stephen Ward, Monika M Widlak, Raf Bisschops, Subrata Ghosh, Marietta Iacucci
INTRODUCTION: Electronic virtual chromoendoscopy (EVC) can demonstrate ongoing disease activity in ulcerative colitis (UC), even when Mayo subscores suggest healing. However, applicability of EVC technology outside the expert setting has yet to be determined. METHODS: 15 participants across 5 centers reviewed a computerized training module outlining high-definition (HD) and EVC (i-Scan) colonoscopy modes. Interobserver agreement was then tested (Mayo score, UCEIS and the Paddington International virtual ChromoendoScopy ScOre [PICaSSO] for UC), using a colonoscopy video library (n=30 cases reviewed pre- and n=30 post-training)...
March 13, 2018: Gastrointestinal Endoscopy
Enrico Ravagli, Stefano Severi
During hemodialysis (HD), blood is circulated through an extracorporeal tubing system (bloodline) made of medical-grade polymeric material. Sensors of various types that do not come into contact with blood (optical, electromagnetic, etc.) are applied directly across the bloodline for clinical purposes and for therapy customization. Thus, a detailed knowledge of the bloodline's physical properties is useful for the development of next-generation HD sensors. In this work, we performed a novel comparative analysis of the materials used by the manufacturers of the bloodlines...
March 16, 2018: Materials
Chye Soi Moi, Chia Kin Yen, Khuen Yen Ng, Koh Rhun Yian
Protein misfolding and aggregation have been considered the common pathological hallmarks for a number of neurodegenerative diseases, including Alzheimer's disease (AD), Parkinson's disease (PD) and Huntington's disease (HD). These abnormal proteins aggregation damage mitochondria and induce oxidative stress and resulting neuronal cell death. Prolong neuronal damage activates microglia and astrocytes, development of inflammation reaction and further promotes neurodegeneration. Thus, elimination of abnormal proteins aggregation without eliciting any adverse effects are the main treatment strategies...
March 15, 2018: CNS & Neurological Disorders Drug Targets
Camillia K Lui, Nina Mulia
Aims: Alcohol problems are most prevalent in young adulthood and decrease thereafter, but some studies find that racial/ethnic minorities have elevated alcohol risk beyond the 20s. This study examines racial/ethnic differences in the transitions into and out of alcohol problems, and whether these are explained by heavy drinking (HD), socioeconomic disadvantages and adult role transitions from the 20s to 30s. Short summary: Racial/ethnic groups had similar risks for earlier onset and recurrence/persistence of alcohol problems, but Blacks were at significantly greater risk than Whites for later onset in the 30s...
March 13, 2018: Alcohol and Alcoholism: International Journal of the Medical Council on Alcoholism
Ankit Raj, Hiro-O Hamaguchi, Henryk A Witek
We report an exhaustive compilation of wavelength-dependent matrix elements over the mean polarizability (α¯) and polarizability anisotropy (γ) operators for the rovibrational states of the H2 , HD, and D2 molecules together with an accompanying computer program for their evaluation. The matrix elements can be readily evaluated using the provided codes for rovibrational states with J = 0-15 and v = 0-4 and for any laser wavelengths in the interval 182.25-1320.6 nm corresponding to popular, commercially available lasers...
March 14, 2018: Journal of Chemical Physics
E Curotto, M Mella
We have computed ground state energies and analyzed radial distributions for several gas phase and adsorbed D2 (H2 )n and HD(H2 )n clusters. An external model potential designed to mimic ionic adsorption sites inside porous materials is used [M. Mella and E. Curotto, J. Phys. Chem. A 121, 5005 (2017)]. The isotopic substitution lowers the ground state energies by the expected amount based on the mass differences when these are compared with the energies of the pure clusters in the gas phase. A similar impact is found for adsorbed aggregates...
March 14, 2018: Journal of Chemical Physics
Eun-Ji Choi, Je-Hwan Lee, Jung-Hee Lee, Han-Seung Park, Sun-Hye Ko, Eun-Hye Hur, Juhyun Moon, Bon-Kwan Goo, Yeonhee Kim, Miee Seol, Young-Shin Lee, Young-Ah Kang, Mijin Jeon, Ji Min Woo, Kyoo-Hyung Lee
This retrospective analysis compared anthracyclines (as part of an induction regimen) in 128 newly diagnosed FLT3-ITD-mutated AML patients. Induction regimens comprised high-dose daunorubicin (HD-DN; 90 mg/m2 /d × 3d; n = 44), standard-dose daunorubicin (SD-DN; 45 mg/m2 /d × 3d; n = 51), or idarubicin (IDA; 12 mg/m2 /d × 3d; n = 33) in combination with cytarabine (100-200 mg/m2 /d × 7d). Fifty-three patients showing persistent leukemia on interim bone marrow examination received a second course of induction chemotherapy comprising 2 days of daunorubicin (45 mg/m2 /d) or IDA (8 or 12 mg/m2 /d) in addition to 5 days of cytarabine...
March 8, 2018: Leukemia Research
Tobias Budenz, Annette Denzinger, Hans-Ulrich Schnitzler
Bats lower the emission SPL when approaching a target. The SPL reduction has been explained by intensity compensation which implies that bats adjust the emission SPL to perceive the retuning echoes at the same level. For a better understanding of this control mechanism we recorded the echolocation signals of four Myotis myotis with an onboard microphone when foraging in the passive mode for rustling mealworms offered in two feeding dishes with different target strength, and determined the reduction rate for the emission SPL and the increase rate for the SPL of the returning echoes...
2018: PloS One
D Roorda, M J Witvliet, L M Wellens, D V Schulten, C E J Sloots, I de Blaauw, P M A Broens, J Oosterlaan, L W E van Heurn, A F W van der Steeg
AIM: Total colonic aganglionosis (TCA) is a severe form of Hirschsprung's Disease (HD) associated with a high morbidity. This study assesses long-term functional outcome and Quality of Life (QoL) of TCA patients in a national consecutive cohort. METHODS: Medical records of all patients (n=53) diagnosed between 1995 and 2015 were reviewed on surgical and demographic characteristics. Functional outcome of all non-syndromal patients, aged ≥ four years (n=35) was assessed in medical records and with a questionnaire...
March 15, 2018: Colorectal Disease: the Official Journal of the Association of Coloproctology of Great Britain and Ireland
V A Shaimova, T B Shaimov, R B Shaimov, A Yu Galin, Zh A Goloshchapova, P K Ryzhkov, A V Fomin
PURPOSE: To develop methods for evaluating effectiveness of YAG-laser vitreolysis of vitreous floaters. MATERIAL AND METHODS: The study included 144 patients (173 eyes) who had underwent YAG-laser vitreolysis and were under observation from 01.09.16 to 31.01.18. The patients were 34 to 86 years old (mean age 62.7±10.2 years), 28 (19.4%) patients were male, 116 (80.6%) - female. All patients underwent standard and additional examination: ultrasonography (Accutome B-scan plus, U...
2018: Vestnik Oftalmologii
Mariusz Puchalski, Jacek Komasa, Krzysztof Pachucki
The interaction between nuclear spins in a molecule is exceptionally sensitive to the physics beyond the standard model. However, all present calculations of the nuclear spin-spin coupling constant J are burdened by computational difficulties, which hinders the comparison to experimental results. Here, we present a variational approach and calculate the constant J in the hydrogen molecule with the controlled numerical precision, using the adiabatic approximation. The apparent discrepancy with experimental result is removed by an analysis of nonadiabatic effects based on the experimental values of the J constant for HD, HT, and DT molecules...
February 23, 2018: Physical Review Letters
Per Jonsson, Lorentz Lindmark, Jan Axelsson, Lars Karlsson, Lennart Lundberg, Bernd Stegmayr
We were encouraged to investigate the reasons for large amounts of foam observed in bloodlines during hemodialysis (HD). Foam was visible in the venous air trap within the Artis Gambro dialysis device. Estimates of the extent of foam were graded (0-no foam, 10-extensive foam) by two persons that were blind to the type of dialyzer used. Thirty-seven patients were involved in the dialysis procedures. Consecutive dialyses were graded using dialyzers from Fresenius Medical Care (CorDiax dialyzers that were used for high flux HD-FX80 and FX100, and for hemodiafiltration-FX1000)...
March 15, 2018: Artificial Organs
Jie Hao, Shuangyue Li, Xiaoxia Shi, Zhiqiang Qian, Yijie Sun, Dunjia Wang, Xueying Zhou, Hongxin Qu, Shuhai Hu, Enjun Zuo, Cong Zhang, Liyan Hou, Qingshan Wang, Fengyuan Piao
Chronic exposure to n-hexane, a widely used organic solvent in industry, induces central-peripheral neuropathy, which is mediated by its active metabolite, 2,5-hexanedione (HD). We recently reported that transplantation of bone marrow-mesenchymal stem cells (BMSC) significantly ameliorated HD-induced neuronal damage and motor deficits in rats. However, the mechanisms remain unclear. Here, we reported that inhibition of HD-induced autophagy contributed to BMSC-afforded protection. BMSC transplantation significantly reduced the levels of microtubule-associated protein 1 light chain 3-II (LC3-II) and the degradation of sequestosome-1 (p62) in the spinal cord and sciatic nerve of HD-intoxicated rats...
March 14, 2018: Scientific Reports
Thaís Garcia, Sílvia Aline Dos Santos Andrade, Angélica Teresa Biral, André Luiz Bertani, Laura Miranda de Oliveira Caram, Talita Jacon Cezare, Irma Godoy, Suzana Erico Tanni
OBJECTIVE: To evaluate the effectiveness of a smoking cessation program, delivered by trained health care professionals, in patients hospitalized for acute respiratory disease (RD) or heart disease (HD). METHODS: Of a total of 393 patients evaluated, we included 227 (146 and 81 active smokers hospitalized for HD and RD, respectively). All participants received smoking cessation treatment during hospitalization and were followed in a cognitive-behavioral smoking cessation program for six months after hospital discharge...
January 2018: Jornal Brasileiro de Pneumologia: Publicaça̋o Oficial da Sociedade Brasileira de Pneumologia e Tisilogia
Shahaf Weiss, Dori Derdikman
Since their discovery, mammalian head-direction (HD) cells have been extensively researched in terms of sensory origins, external cue control and circuitry. However, the relationship of HD cells to behavior is not yet fully understood. In the current review, we examine the anatomical clues for information flow in the HD circuit, and an emerging body of evidence that links between neural activity of HD cells and spatial orientation. We hypothesize from results obtained in spatial orientation tasks involving HD cells, that when properly aligned with available external cues, the HD signal could be used for guiding rats to a goal location...
March 14, 2018: Journal of Neurophysiology
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