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https://www.readbyqxmd.com/read/28650462/haplotype-phasing-of-whole-human-genomes-using-bead-based-barcode-partitioning-in-a-single-tube
#1
Fan Zhang, Lena Christiansen, Jerushah Thomas, Dmitry Pokholok, Ros Jackson, Natalie Morrell, Yannan Zhao, Melissa Wiley, Emily Welch, Erich Jaeger, Ana Granat, Steven J Norberg, Aaron Halpern, Maria C Rogert, Mostafa Ronaghi, Jay Shendure, Niall Gormley, Kevin L Gunderson, Frank J Steemers
Haplotype-resolved genome sequencing promises to unlock a wealth of information in population and medical genetics. However, for the vast majority of genomes sequenced to date, haplotypes have not been determined because of cumbersome haplotyping workflows that require fractions of the genome to be sequenced in a large number of compartments. Here we demonstrate barcode partitioning of long DNA molecules in a single compartment using "on-bead" barcoded tagmentation. The key to the method that we call "contiguity preserving transposition" sequencing on beads (CPTv2-seq) is transposon-mediated transfer of homogenous populations of barcodes from beads to individual long DNA molecules that get fragmented at the same time (tagmentation)...
June 26, 2017: Nature Biotechnology
https://www.readbyqxmd.com/read/28650406/discussion-predictors-of-complications-after-pectoralis-major-transposition-for-sternum-dehiscence
#2
Francesco Ciancio, Domenico Parisi, Alessandro Innocenti, Aurelio Portincasa
No abstract text is available yet for this article.
June 23, 2017: Annals of Plastic Surgery
https://www.readbyqxmd.com/read/28650183/spatial-transposition-tasks-in-indian-sloth-bears-melursus-ursinus-and-bornean-sun-bears-helarctos-malayanus-euryspilus
#3
Daniela Hartmann, Marina Davila-Ross, Siew Te Wong, Josep Call, Marina Scheumann
Spatial transposition tasks assess individuals' ability to represent nonvisible spatial object displacements. Several nonhuman mammal species have been tested on this task including primates, cats, and dogs, but to date, great apes seem the only taxon that has repeatedly and consistently solved spatial transposition tasks. The authors investigated the ability of captive sloth and sun bears to solve spatial transposition tasks. Both species belong to the same taxonomic group as cats and dogs, but unlike them and similar to apes, they have an omnivorous diet that requires them to keep track of fruit sources in space and time...
June 26, 2017: Journal of Comparative Psychology
https://www.readbyqxmd.com/read/28648541/coronary-artery-anomalies-in-patients-with-transposition-of-the-great-arteries-and-their-impact-on-postoperative-outcomes
#4
Maciej Moll, Krzysztof W Michalak, Katarzyna Sobczak-Budlewska, Jadwiga A Moll, Marek Kopala, Konrad Szymczyk, Paweł Dryżek, Jacek J Moll
BACKGROUND: Coronary anomalies are frequently present in children with transposition of the great arteries (TGA). Such anomalies significantly increase the complexity of arterial switch operations and may have an effect on postoperative outcomes. In this study, we aimed to assess the frequency of coronary anomalies in children with TGA and describe their effect on postoperative outcomes. METHODS: All patients with TGA who underwent an arterial switch operation between 1991 and 2015 were consecutively enrolled in this study...
June 22, 2017: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/28648534/promising-outcome-of-anatomic-correction-of-corrected-transposition-of-the-great-arteries
#5
Viktor Hraska, Mathieu Vergnat, Peter Zartner, Chris Hart, Phillip Suchowerskyj, Benjamin Bierbach, Ehrenfried Schindler, Martin Schneider, Boulos Asfour
BACKGROUND: Anatomic correction of corrected transposition of the great arteries with associated lesions, utilizing the morphologic left ventricle as a systemic pumping chamber, is the preferred method in many centers. The purpose of this study was to analyze functional outcome after anatomic correction. METHODS: Between Jan 1997 and May 2016, 63 patients with corrected transposition of the great arteries and associated lesions underwent anatomic correction. Forty-two patients (67%) underwent palliation before correction, including 14 patients (22%) who required training of systemic ventricle...
June 22, 2017: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/28648333/right-ventricle-to-pulmonary-artery-conduit-for-surgical-management-of-transposition-of-great-arteries-with-a-complex-coronary-pattern
#6
T K Susheel Kumar, Mario Briceno-Medina, Abdul H Khan, Christopher J Knott-Craig
No abstract text is available yet for this article.
May 22, 2017: Journal of Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/28647661/can-we-make-still-easier-simple-in-situ-decompression-of-the-ulnar-nerve-at-the-elbow
#7
Vicente Vanaclocha, Trinidad Blanco, Pedro Ortiz, Javier López-Trigo, Vicente Bordes, Pau Capilla, Leyre Vanaclocha
BACKGROUND: in situ decompression and transposition are equally effective in cubital tunnel syndrome treatment. Both are traditionally performed in the supine position. AIM: to validate our surgical to present our technique for in situ decompression in lateral decubitus position, comparing results with other techniques used in our Institutions. METHODS: Retrospective study. Period January 2009-February 2016. 188 cubital tunnel syndrome patients, 115 males, 73 females, age mean 53...
June 21, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28647641/impact-of-left-subclavian-artery-revascularization-prior-to-thoracic-endovascular-aortic-repair-on-post-operative-cerebrovascular-hemodynamics
#8
Arnoud V Kamman, Jonathan L Eliason, David M Williams, Bo Yang, Frans L Moll, Santi Trimarchi, Kim A Eagle, Himanshu J Patel
OBJECTIVES: The impact of left subclavian artery (LSA) revascularization prior to thoracic endovascular aortic repair (TEVAR) on cerebrovascular flow is not well described. We studied bilateral vertebral and carotid artery flow characteristics before and after TEVAR, to evaluate the hemodynamic effects of LSA revascularization. METHODS: Seventy-four patients with mixed etiologies (mean age 70.9±10.5 years) underwent LSA revascularization and TEVAR (2006-2016) and had available pre- and post-operative carotid Duplex study available...
June 21, 2017: Annals of Vascular Surgery
https://www.readbyqxmd.com/read/28645898/dna-pk-facilitates-piggybac-transposition-by-promoting-paired-end-complex-formation
#9
Yan Jin, Yaohui Chen, Shimin Zhao, Kun-Liang Guan, Yuan Zhuang, Wenhao Zhou, Xiaohui Wu, Tian Xu
The involvement of host factors is critical to our understanding of underlying mechanisms of transposition and the applications of transposon-based technologies. Modified piggyBac (PB) is one of the most potent transposon systems in mammals. However, varying transposition efficiencies of PB among different cell lines have restricted its application. We discovered that the DNA-PK complex facilitates PB transposition by binding to PB transposase (PBase) and promoting paired-end complex formation. Mass spectrometry analysis and coimmunoprecipitation revealed physical interaction between PBase and the DNA-PK components Ku70, Ku80, and DNA-PKcs Overexpression or knockdown of DNA-PK components enhances or suppresses PB transposition in tissue culture cells, respectively...
June 23, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28645799/genotype-phenotype-evaluation-of-med13l-defects-in-the-light-of-a-novel-truncating-and-a-recurrent-missense-mutation
#10
Reza Asadollahi, Markus Zweier, Laura Gogoll, Raphael Schiffmann, Heinrich Sticht, Katharina Steindl, Anita Rauch
A decade after the designation of MED13L as a gene and its link to intellectual disability (ID) and dextro-looped transposition of great arteries in 2003, we previously described a recognizable syndrome due to MED13L haploinsufficiency. Subsequent reports of 22 further patients diagnosed by genome-wide testing further delineated the syndrome with expansion of the phenotypic spectrum and showed reduced penetrance for congenital heart defects. We now report two novel patients identified by whole exome sequencing, one with a de novo MED13L truncating mutation and the other with a de novo missense mutation...
June 20, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28645509/a-fast-and-reliable-method-for-daily-quality-assurance-in-spot-scanning-proton-therapy-with-a-compact-and-inexpensive-phantom
#11
Nicola Bizzocchi, Francesco Fracchiolla, Marco Schwarz, Carlo Algranati
In a radiotherapy center, daily quality assurance (QA) measurements are performed to ensure that the equipment can be safely used for patient treatment on that day. In a pencil beam scanning (PBS) proton therapy center, spot positioning, spot size, range, and dose output are usually verified every day before treatments. We designed, built, and tested a new, reliable, sensitive, and inexpensive phantom, coupled with an array of ionization chambers, for daily QA that reduces the execution times while preserving the reliability of the test...
June 20, 2017: Medical Dosimetry: Official Journal of the American Association of Medical Dosimetrists
https://www.readbyqxmd.com/read/28645293/prenatal-screening-of-fetal-ventriculoarterial-connections-benefits-of-4d-technique-in-fetal-heart-imaging
#12
Yu Wang, Miao Fan, Faiza Amber Siddiqui, Meilian Wang, Wei Sun, Xue Sun, Wenjia Lei, Ying Zhang
BACKGROUND: Identification of prenatal ventriculoarterial connections in fetuses with conotruncal anomalies (CTA) remains one of the greatest challenges for sonographers performing screening examinations. Herein, we propose a novel protocol of 4D volume analysis that identifies ventriculoarterial connections and evaluate its clinical utility in routine screenings. METHODS: Twenty-nine cases of transposition of the great arteries (TGA), 22 cases of double-outlet right ventricle (DORV), 36 cases of tetralogy of Fallot (TOF), 14 cases of truncus arteriosus (TCA), and randomly selected 70 normal fetuses were reviewed in this study...
June 23, 2017: Cardiovascular Ultrasound
https://www.readbyqxmd.com/read/28645197/pht%C3%AE-promoted-mobilization-of-non-conjugative-resistance-plasmids-from-enterococcus-faecium-to-enterococcus-faecalis
#13
Laura Di Sante, Gianluca Morroni, Andrea Brenciani, Carla Vignaroli, Alberto Antonelli, Marco Maria D'Andrea, Andrea Di Cesare, Eleonora Giovanetti, Pietro E Varaldo, Gian Maria Rossolini, Francesca Biavasco
Objectives: : To analyse the recombination events associated with conjugal mobilization of two multiresistance plasmids, pRUM 17i48 and pLAG (formerly named pDO1-like), from Enterococcus faecium 17i48 to Enterococcus faecalis JH2-2. Methods: : The plasmids from two E. faecalis transconjugants (JH-4T, tetracycline resistant, and JH-8E, erythromycin resistant) and from the E. faecium donor (also carrying a pHTβ-like conjugative plasmid, named pHTβ 17i48 ) were investigated by several methods, including PCR mapping and sequencing, S1-PFGE followed by Southern blotting and hybridization, and WGS...
June 22, 2017: Journal of Antimicrobial Chemotherapy
https://www.readbyqxmd.com/read/28643257/genome-editing-mediated-by-primordial-germ-cell-in-chicken
#14
Jae Yong Han, Hong Jo Lee
Rapid development of genome editing technology has facilitated the studies on exploring specific gene functions and establishment of model animals. In livestock, the technology has contributed to create high value in industry fields, e.g., enhancing productivity or acquiring the resistance against disease. Meanwhile, genome editing in avian species has been emphasized because of their applicable possibilities in terms of highly productive chickens, disease-controlled avian lines, and development of novel biological models...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28642717/the-lactate-minimum-test-concept-methodological-aspects-and-insights-for-future-investigations-in-human-and-animal-models
#15
REVIEW
Leonardo H D Messias, Claudio A Gobatto, Wladimir R Beck, Fúlvia B Manchado-Gobatto
In 1993, Uwe Tegtbur proposed a useful physiological protocol named the lactate minimum test (LMT). This test consists of three distinct phases. Firstly, subjects must perform high intensity efforts to induce hyperlactatemia (phase 1). Subsequently, 8 min of recovery are allowed for transposition of lactate from myocytes (for instance) to the bloodstream (phase 2). Right after the recovery, subjects are submitted to an incremental test until exhaustion (phase 3). The blood lactate concentration is expected to fall during the first stages of the incremental test and as the intensity increases in subsequent stages, to rise again forming a "U" shaped blood lactate kinetic...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/28637810/mcclintock-an-integrated-pipeline-for-detecting-transposable-element-insertions-in-whole-genome-shotgun-sequencing-data
#16
Michael G Nelson, Raquel S Linheiro, Casey M Bergman
Transposable element (TE) insertions are among the most challenging type of variants to detect in genomic data because of their repetitive nature and complex mechanisms of replication. Nevertheless, the recent availability of large resequencing datasets has spurred development of many new methods to detect TE insertions in whole genome shotgun sequences. Here we report an integrated bioinformatics pipeline for the detection of TE insertions in whole genome shotgun data, called McClintock (https://github.com/bergmanlab/mcclintock), which automatically runs and standardizes output for multiple TE detection methods...
June 21, 2017: G3: Genes—Genomes—Genetics
https://www.readbyqxmd.com/read/28634310/-a-case-of-coexistent-glossopharyngeal-neuralgia-and-hemifacial-spasm-successfully-treated-with-transposition-of-the-vertebral-artery
#17
Takashi Fujii, Naoki Otani, Yohei Otsuka, Takashi Matsumoto, Shunsuke Tanoue, Hideaki Ueno, Satoshi Tomura, Arata Tomiyama, Terushige Toyooka, Kojiro Wada, Kentaro Mori
A case of coexistent glossopharyngeal neuralgia and hemifacial spasm was treated by transposition of the vertebral artery. A 60-year-old man was referred to our hospital due to pain in the left posterior part of the tongue that was difficult to control with oral medication at a local hospital. The diagnosis was left glossopharyngeal neuralgia based on the symptoms, imaging findings, and lidocaine test results. Moreover, the patient had left hemifacial spasm. Microvascular decompression was performed, which confirmed that the vertebral artery was compressing the lower cranial nerve and the posterior inferior cerebellar artery was compressing the root exit zone of the facial nerve...
June 2017: No Shinkei Geka. Neurological Surgery
https://www.readbyqxmd.com/read/28633248/endobronchial-guided-vascularized-tissue-flaps-for-a-bronchopleural-fistula
#18
Sarah M Elswick, Basel Sharaf, Ziyad S Hammoudeh, Ali I Saeed, Eric S Edell, David E Midthun, Shanda H Blackmon
The management of bronchopleural fistulas can be challenging. The initial treatment is usually conservative, but operative intervention with transposition of vascularized pedicled flaps may be required in refractory cases. We present the case of a 67-year-old man with stage IIIa squamous cell carcinoma of the lung who underwent a lower and middle bilobectomy after receiving neoadjuvant chemoradiation. His postoperative course was complicated by empyema and a bronchopleural fistula. Because of difficulty accessing the fistula, endobronchial-guided vascularized tissue flaps were successfully used to close the fistula...
July 2017: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/28632651/imaging-in-adult-congenital-heart-disease
#19
Stephanie S Gaydos, Akos Varga-Szemes, Rochelle N Judd, Pal Suranyi, David Gregg
There has been tremendous growth in the population of adults with congenital heart disease (CHD) over the last few decades because of advances in medical care. Whereas some cases are cured during childhood, most patients instead undergo palliation, which leaves them at risk for late complications. Lifelong clinical follow-up involving serial multimodality imaging is helpful to monitor and guide the treatment of late complications. Imaging of these individuals is challenging because of their unique anatomy and therefore requires careful consideration on a case-by-case basis...
July 2017: Journal of Thoracic Imaging
https://www.readbyqxmd.com/read/28629628/left-ventricular-outflow-tract-obstruction-and-its-impact-on-systolic-ventricular-function-and-exercise-capacity-in-adults-with-a-subaortic-right-ventricle
#20
Annina Stauber, Céline Wey, Matthias Greutmann, Daniel Tobler, Kerstin Wustmann, Andreas Wahl, Emanuela R Valsangiacomo Buechel, Matthias Wilhelm, Markus Schwerzmann
BACKGROUND: In biventricular hearts the filling and contractility of one ventricle affects the performance of the other. In this study, we compared right ventricular systolic function and exercise capacity in patients with a subaortic right ventricle (RV) in relation to the presence of a left ventricular outflow tract obstruction (LVOTO). METHODS: Retrospective chart review of adults with congenitally corrected transposition of the great arteries (ccTGA) or with a previous atrial switch procedure for complete TGA (D-TGA)...
June 15, 2017: International Journal of Cardiology
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