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https://www.readbyqxmd.com/read/28342748/rnai-of-arcrna-hsr%C3%AF-affects-sub-cellular-localization-of-drosophila-fus-to-drive-neurodiseases
#1
Luca Lo Piccolo, Masamitsu Yamaguchi
Defective RNA metabolism is common pathogenic mechanisms involved in neurological disorders. Indeed, a conspicuous feature of some neurodegenerative diseases is the loss of nuclear activities of RNA-binding proteins (RBPs) like Fused in sarcoma (FUS) and eventually, their accumulation in cytoplasmic proteinaceous inclusions. Long non-coding RNAs (lncRNAs) are emerging as important regulators of tissue physiology and disease processes, including neurological disorders. A subset of these lncRNAs is the core of nuclear bodies (NBs), which are the sites of RNA processing and sequestration of specific ribonucleoproteins (RNPs) complexes...
March 22, 2017: Experimental Neurology
https://www.readbyqxmd.com/read/28339981/transcriptome-analysis-of-comb-and-testis-from-rose-comb-silky-chicken-r1-r1-and-beijing-fatty-wild-type-chicken-r-r
#2
Y Wang, J Li, C Feng, Y Zhao, X Hu, N Li
Rose-comb was one of the chicken comb-variants first used by Bateson and Punnet in 1902 to demonstrate Mendelian inheritance in animals. Rose-comb is a monogenic trait that has been widely described in chickens. It is caused by a large structural rearrangement that leads to mis-expression of transcription factor MNR2 on chromosome 7. Rose-comb has pleiotropic effects in homozygous roosters, which is associated with poor sperm mobility. It was postulated that this is caused by the disruption of the CCDC108 gene located at the distal inversion breakpoint...
March 2, 2017: Poultry Science
https://www.readbyqxmd.com/read/28336363/does-surgical-teaching-take-time-resident-participation-in-minimally-invasive-hysterectomy-for-endometrial-cancer
#3
Alexandra H Freeman, Allison Barrie, Liisa Lyon, Carol Conell, Christine Garcia, Ramey D Littell, C Bethan Powell
STUDY OBJECTIVE: To determine the association between resident involvement and operative time for minimally invasive surgery (MIS) for endometrial cancer. DESIGN: Retrospective cohort study DESIGN: Classification: II-2 SETTING: Integrated health care system in Northern California PATIENTS: A total of 1,433 women who underwent MIS for endometrial cancer and endometrial intraepithelial neoplasia from January 2009 to January 2014. INTERVENTIONS: Resident participation in 430/688 laparoscopic cases (62%) and 341/745 robotic cases (46%)...
March 21, 2017: Journal of Minimally Invasive Gynecology
https://www.readbyqxmd.com/read/28334870/annealing-helicase-harp-closes-rpa-stabilized-dna-bubbles-non-processively
#4
Daniel R Burnham, Bas Nijholt, Iwijn De Vlaminck, Jinhua Quan, Timur Yusufzai, Cees Dekker
We investigate the mechanistic nature of the Snf2 family protein HARP, mutations of which are responsible for Schimke immuno-osseous dysplasia. Using a single-molecule magnetic tweezers assay, we construct RPA-stabilized DNA bubbles within torsionally constrained DNA to investigate the annealing action of HARP on a physiologically relevant substrate. We find that HARP closes RPA-stabilized bubbles in a slow reaction, taking on the order of tens of minutes for ∼600 bp of DNA to be re-annealed. The data indicate that DNA re-anneals through the removal of RPA, which is observed as clear steps in the bubble-closing traces...
February 28, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/28333321/preconception-and-early-pregnancy-maternal-haemodynamic-changes-in-healthy-women-in-relation-to-pregnancy-viability
#5
F L Foo, A Collins, C M McEniery, P R Bennett, I B Wilkinson, C C Lees
STUDY QUESTION: Are there differences in preconception cardiovascular function between women who have a viable pregnancy and those who have a first trimester miscarriage? SUMMARY ANSWER: Preconception cardiovascular function of central haemodynamics and arterial function are similar between women who have a viable pregnancy and those who have a first trimester miscarriage. WHAT IS KNOWN ALREADY: Miscarriages have been associated with increased long-term cardiovascular disease risk, and arterial and cardiovascular dysfunction has been hypothesised as the common link...
March 16, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28330339/the-attachment-of-%C3%AE-synuclein-to-a-fiber-a-coarse-grain-approach
#6
Ioana M Ilie, Wouter K den Otter, Wim J Briels
We present simulations of the amyloidogenic core of α-synuclein, the protein causing Parkinson's disease, as a short chain of coarse-grain patchy particles. Each particle represents a sequence of about a dozen amino acids. The fluctuating secondary structure of this intrinsically disordered protein is modelled by dynamic variations of the shape and interaction characteristics of the patchy particles, ranging from spherical with weak isotropic attractions for the disordered state to spherocylindrical with strong directional interactions for a β-sheet...
March 21, 2017: Journal of Chemical Physics
https://www.readbyqxmd.com/read/28329584/reusing-surgical-instruments-during-mohs-micrographic-surgery-safe-from-infection-but-not-free-from-risk
#7
Tatyana A Petukhova, Thomas H King, Kenny J Omlin, Daniel B Eisen
We report several scenarios of compromise in patient safety owing to the re-use of mis-assigned patient's surgical instruments in Mohs micrographic surgery.We discuss the breaks in universal protocols that others may experience in their practices and describe corrective measures that our institutions employed to avoid such future events.There is a lack of publication in the literature on the topic of mis-assigned instrument use in Mohs surgery. We believe that the  practice of re-using instruments is cost-effective and therefore common...
October 15, 2016: Dermatology Online Journal
https://www.readbyqxmd.com/read/28328708/long-term-outcomes-of-melanoma-in-situ-treated-with-topical-5-imiquimod-cream-a-retrospective-review
#8
Andrew J Park, Joan Paul, M Shane Chapman, Faramarz H Samie
BACKGROUND: Melanoma in situ (MIS) is a noninvasive form of melanoma for which nonsurgical therapeutic options continue to be explored. The off-label use of topical 5% imiquimod cream in the management of MIS has shown potential but reported recurrence rates vary considerably between 0% and 40%. Furthermore, the long-term efficacy of imiquimod is not well established. OBJECTIVE: To determine the recurrence rate of MIS among patients treated with topical 5% imiquimod cream at Dartmouth-Hitchcock Medical Center with at least 1 year of follow-up...
March 21, 2017: Dermatologic Surgery: Official Publication for American Society for Dermatologic Surgery [et Al.]
https://www.readbyqxmd.com/read/28328587/bedside-breath-wise-visualization-of-bronchospasm-by-electrical-impedance-tomography-could-improve-perioperative-patient-safety-a-case-report
#9
Pedro de la Oliva, Andreas D Waldmann, Stephan H Böhm, Cristina Verdú-Sánchez, Antonio Pérez-Ferrer, Elena Alvarez-Rojas
Bronchospasm appears in up to 4% of patients with obstructive lung disease or respiratory infection undergoing general anesthesia. Clinical examination alone may miss bronchospasm. As a consequence, subsequent (mis)treatment and ventilator settings could lead to pulmonary hyperinflation, hypoxia, hypercapnia, hypotension, patient-ventilator asynchrony, volutrauma, or barotrauma. Electrical impedance tomography (EIT), a new noninvasive technique, can potentially identify bronchospasms by determining regional expiratory time constants (τ) for each one of the pixels of a functional EIT image...
March 15, 2017: A & A Case Reports
https://www.readbyqxmd.com/read/28327976/minion%C3%A2-nanopore-sequencing-of-environmental-metagenomes-a-synthetic-approach
#10
Bonnie L Brown, Mick Watson, Samuel S Minot, Maria C Rivera, Rima B Franklin
Background: Environmental metagenomic analysis is typically accomplished by assigning taxonomy and/or function from whole genome sequencing (WGS) or 16S amplicon sequences. Both of these approaches are limited, however, by read length, among other technical and biological factors. A nanopore-based sequencing platform, MinION™, produces reads that are ≥1×10 4 bp in length, potentially providing for more precise assignment, thereby alleviating some of the limitations inherent in determining metagenome composition from short reads...
February 24, 2017: GigaScience
https://www.readbyqxmd.com/read/28326796/surgical-treatment-of-4-10%C3%A2-cm-renal-cell-carcinoma-a-survey-of-the-lions-and-gazelles
#11
Sara L Best, Michael Blute, Brian Lane, E Jason Abel
INTRODUCTION: The decision between partial nephrectomy (PN) and radical nephrectomy (RN) may be influenced by training, practice type, or location. We sought to evaluate current opinions about the optimal management of 4-10 cm renal-cell carcinoma (RCC). MATERIALS AND METHODS: A survey was emailed to ∼2500 Endourologic Society and Society of Urologic Oncology members regarding training, practice setting, and interest in clinical trials in addition to questions about four patient scenarios...
March 22, 2017: Journal of Endourology
https://www.readbyqxmd.com/read/28326320/duodenal-atresia-open-versus-mis-repair-analysis-of-our-experience-over-the-last-12-years
#12
Salvatore Fabio Chiarenza, Valeria Bucci, Maria Luisa Conighi, Elisa Zolpi, Lorenzo Costa, Lorella Fasoli, Cosimo Bleve
Objective. Duodenal atresia (DA) routinely has been corrected by laparotomy and duodenoduodenostomy with excellent long-term results. We revisited the patients with DA treated in the last 12 years (2004-2016) comparing the open and the minimally invasive surgical (MIS) approach. Methods. We divided our cohort of patients into two groups. Group 1 included 10 patients with CDO (2004-09) treated with open procedure: 5, DA; 3, duodenal web; 2, extrinsic obstruction. Three presented with Down's syndrome while 3 presented with concomitant malformations...
2017: BioMed Research International
https://www.readbyqxmd.com/read/28325443/vascular-segmentation-of-head-phase-contrast-magnetic-resonance-angiograms-using-grayscale-and-shape-features
#13
Ruoxiu Xiao, Hui Ding, Fangwen Zhai, Tong Zhao, Wenjing Zhou, Guangzhi Wang
BACKGROUND AND OBJECTIVE: In neurosurgery planning, vascular structures must be predetermined, which can guarantee the security of the operation carried out in the case of avoiding blood vessels. In this paper, an automatic algorithm of vascular segmentation, which combined the grayscale and shape features of the blood vessels, is proposed to extract 3D vascular structures from head phase-contrast magnetic resonance angiography dataset. METHODS: First, a cost function of mis-segmentation is introduced on the basis of traditional Bayesian statistical classification, and the blood vessel of weak grayscale that tended to be misclassified into background will be preserved...
April 2017: Computer Methods and Programs in Biomedicine
https://www.readbyqxmd.com/read/28324822/outcome-evaluation-of-minimally-invasive-surgery-versus-extensile-lateral-approach-in-management-of-displaced-intra-articular-calcaneal-fractures-a-randomised-control-trial
#14
Ankit Khurana, Mandeep S Dhillon, Sharad Prabhakar, Rakesh John
BACKGROUND: Minimally invasive surgery has a significant and evolving role in the treatment of DIACFs, but there is limited literature on this topic. OBJECTIVES: To compare the clinico-radiological outcomes of DIACFs fixed with MIS technique with ORIF. METHODS: This randomised control trial (RCT) included 21 closed Sanders type 2 and 3 DIACFs which were selected from 70 who presented. Extensile lateral approach was used in the ORIF group; while MIS techniques included either percutaneous reduction or small incisions with indirect fragment manipulation...
February 20, 2017: Foot
https://www.readbyqxmd.com/read/28323615/stella-modulates-transcriptional-and-endogenous-retrovirus-programs-during-maternal-to-zygotic-transition
#15
Yun Huang, Jong Kyoung Kim, Dang Vinh Do, Caroline Lee, Christopher A Penfold, Jan J Zylicz, John C Marioni, Jamie A Hackett, M Azim Surani
The maternal-to-zygotic transition (MZT) marks the period when the embryonic genome is activated and acquires control of development. Maternally inherited factors play a key role in this critical developmental process, which occurs at the 2-cell stage in mice. We investigated the function of the maternally inherited factor STELLA (DPPA3) using single-cell/embryo approaches. We show that loss of maternal STELLA results in widespread transcriptional mis-regulation and a partial failure of MZT. Strikingly, activation of endogenous retroviruses (ERVs) is significantly impaired in Stella maternal/zygotic knockout embryos, which in turn leads to a failure to upregulate chimeric transcripts...
March 21, 2017: ELife
https://www.readbyqxmd.com/read/28320918/hinge-long-read-assembly-achieves-optimal-repeat-resolution
#16
Govinda M Kamath, Ilan Shomorony, Fei Xia, Thomas Courtade, David N Tse
Long-read sequencing technologies have potential to produce gold-standard de novo genome assemblies, but fully exploiting error-prone reads to resolve repeats remains a challenge. Aggressive approaches to repeat resolution often produce mis-assemblies, and conservative approaches lead to unnecessary fragmentation. We present HINGE, an assembler that achieves optimal repeat resolution by distinguishing repeats that can be resolved given the data from those that cannot. This is accomplished by adding "hinges" to reads for constructing an overlap graph where only unresolvable repeats are merged...
March 20, 2017: Genome Research
https://www.readbyqxmd.com/read/28314275/relationship-between-ktrans-and-k1-with-simultaneous-versus-separate-mr-pet-in-rabbits-with-vx2-tumors
#17
Kyung Hee Lee, Seung Kwan Kang, Jin Mo Goo, Jae Sung Lee, Gi Jeong Cheon, Seongho Seo, Eui Jin Hwang
BACKGROUND/AIM: To compare the relationship between Ktrans from DCE-MRI and K1 from dynamic (13)N-NH3-PET, with simultaneous and separate MR/PET in the VX-2 rabbit carcinoma model. MATERIALS AND METHODS: MR/PET was performed simultaneously and separately, 14 and 15 days after VX-2 tumor implantation at the paravertebral muscle. The Ktrans and K1 values were estimated using an in-house software program. The relationships between Ktrans and K1 were analyzed using Pearson's correlation coefficients and linear/non-linear regression function...
March 2017: Anticancer Research
https://www.readbyqxmd.com/read/28303813/molecular-typing-of-chlamydia-trachomatis-an-overview
#18
REVIEW
Jyoti Rawre, Deepak Juyal, Benu Dhawan
Urogenital infection due to Chlamydia trachomatis (CT) is one of the most common bacterial sexually transmitted infections (STIs) and is a major public health problem worldwide. Molecular characterisation of CT is important for understanding the pathophysiological mechanisms of chlamydial disease and its transmission dynamics in sexual networks. Traditionally, strain typing of CT was based on serotyping methods characterising the major outer membrane protein (MOMP). With the advent of polymerase chain reaction and sequencing the era of molecular typing began...
January 2017: Indian Journal of Medical Microbiology
https://www.readbyqxmd.com/read/28303347/genome-wide-enrichment-of-damaging-de-novo-variants-in-patients-with-isolated-and-complex-congenital-diaphragmatic-hernia
#19
Mauro Longoni, Frances A High, Hongjian Qi, Maliackal P Joy, Regis Hila, Caroline M Coletti, Julia Wynn, Maria Loscertales, Linshan Shan, Carol J Bult, Jay M Wilson, Yufeng Shen, Wendy K Chung, Patricia K Donahoe
Congenital Diaphragmatic Hernia (CDH) is a common and often lethal birth defect characterized by diaphragmatic structural defects and pulmonary hypoplasia. CDH is isolated in 60% of newborns, but may also be part of a complex phenotype with additional anomalies. We performed whole exome sequencing (WES) on 87 individuals with isolated or complex CDH and on their unaffected parents, to assess the contribution of de novo mutations in the etiology of diaphragmatic and pulmonary defects and to identify new candidate genes...
March 16, 2017: Human Genetics
https://www.readbyqxmd.com/read/28302290/statin-intolerance-and-risk-of-coronary-heart-events-and-all-cause-mortality-following-myocardial-infarction
#20
Maria-Corina Serban, Lisandro D Colantonio, Angelika D Manthripragada, Keri L Monda, Vera A Bittner, Maciej Banach, Ligong Chen, Lei Huang, Ricardo Dent, Shia T Kent, Paul Muntner, Robert S Rosenson
BACKGROUND: Many patients report adverse reactions to, and may not tolerate, statin therapy. These patients may be at increased risk for coronary heart disease (CHD) events and mortality. OBJECTIVES: This study evaluated the risk for recurrent myocardial infarction (MI), CHD events, and all-cause mortality in Medicare beneficiaries with statin intolerance and in those with high adherence to statin therapy. METHODS: We studied 105,329 Medicare beneficiaries who began a moderate- or high-intensity statin dosage after hospitalization for MI between 2007 and 2013...
March 21, 2017: Journal of the American College of Cardiology
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