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https://www.readbyqxmd.com/read/28918587/genome-wide-association-studies-of-albuminuria-towards-genetic-stratification-in-diabetes
#1
REVIEW
Cristian Pattaro
Genome-wide association studies (GWAS) have been very successful in unraveling the polygenic structure of several complex diseases and traits. In the case of albuminuria, despite the large sample size achieved by some studies, results look sparse with a limited number of loci reported so far. This review searched for GWAS studies of albumin excretion, albuminuria, and proteinuria. The resulting picture sets elements of uniqueness for albuminuria GWAS with respect to other complex traits. So far, very few loci associated with albuminuria have been validated by means of genome-wide significant evidence or formal replication...
September 16, 2017: Journal of Nephrology
https://www.readbyqxmd.com/read/28918368/gnptab-missense-mutations-cause-loss-of-glcnac-1-phosphotransferase-activity-in-mucolipidosis-type-ii-through-distinct-mechanisms
#2
Nataniel Floriano Ludwig, Renata Voltolini Velho, Fernanda Sperb-Ludwig, Angelina Xavier Acosta, Erlane Marques Ribeiro, Chong Kim, Dafne Dain Gandelman Horovitz, Raquel Boy, Maria Juliana Rodovalho-Doriqui, Charles Marques Lourenço, Emerson Santana Santos, Thomas Braulke, Sandra Pohl, Ida Vanessa D Schwartz
Mucolipidoses (ML) II and III alpha/beta are lysosomal storage diseases caused by pathogenic mutations in GNPTAB encoding the α⁄β-subunit precursor of GlcNAc-1-phosphotransferase. To determine genotype-phenotype correlation and functional analysis of mutant GlcNAc-1-phosphotransferase, 13 Brazilian patients clinically and biochemical diagnosed for MLII or III alpha/beta were studied. By sequencing of genomic GNPTAB of the MLII and MLIII alpha/beta patients we identified six novel mutations: p.D76G, p.S385L, p...
September 13, 2017: International Journal of Biochemistry & Cell Biology
https://www.readbyqxmd.com/read/28918322/time-for-tiger-to-roar-technology-informatics-guiding-education-reform
#3
EDITORIAL
Siobhan O'Connor, Ursula Hubner, Toria Shaw, Rachelle Blake, Marion Ball
Information Technology (IT) continues to evolve and develop with electronic devices and systems becoming integral to healthcare in every country. This has led to an urgent need for all professions working in healthcare to be knowledgeable and skilled in informatics. The Technology Informatics Guiding Education Reform (TIGER) Initiative was established in 2006 in the United States to develop key areas of informatics in nursing. One of these was to integrate informatics competencies into nursing curricula and life-long learning...
August 19, 2017: Nurse Education Today
https://www.readbyqxmd.com/read/28918285/controlling-cell-volume-for-efficient-phb-production-by-halomonas
#4
Xiao-Ran Jiang, Zhi-Hao Yao, Guo-Qiang Chen
Bacterial morphology is decided by cytoskeleton protein MreB and cell division protein FtsZ encoded by essential genes mreB and ftsZ, respectively. Inactivating mreB and ftsZ lead to increasing cell sizes and cell lengths, respectively, yet seriously reduce cell growth ability. Here we develop a temperature-responsible plasmid expression system for compensated expression of relevant gene(s) in mreB or ftsZ disrupted recombinants H. campaniensis LS21, allowing mreB or ftsZ disrupted recombinants to grow normally at 30°C in a bioreactor for 12h so that a certain cell density can be reached, followed by 36h cell size expansions or cell shape elongations at elevated 37°C at which the mreB and ftsZ encoded plasmid pTKmf failed to replicate in the recombinants and thus lost themselves...
September 13, 2017: Metabolic Engineering
https://www.readbyqxmd.com/read/28918024/antisense-oligonucleotide-mediated-removal-of-the-polyglutamine-repeat-in-spinocerebellar-ataxia-type-3-mice
#5
Lodewijk J A Toonen, Frank Rigo, Haico van Attikum, Willeke M C van Roon-Mom
Spinocerebellar ataxia type 3 (SCA3) is a currently incurable neurodegenerative disorder caused by a CAG triplet expansion in exon 10 of the ATXN3 gene. The resultant expanded polyglutamine stretch in the mutant ataxin-3 protein causes a gain of toxic function, which eventually leads to neurodegeneration. One important function of ataxin-3 is its involvement in the proteasomal protein degradation pathway, and long-term downregulation of the protein may therefore not be desirable. In the current study, we made use of antisense oligonucleotides to mask predicted exonic splicing signals, resulting in exon 10 skipping from ATXN3 pre-mRNA...
September 15, 2017: Molecular Therapy. Nucleic Acids
https://www.readbyqxmd.com/read/28917902/an-unexpected-reactivity-during-periodate-oxidation-of-chitosan-and-the-affinity-of-its-2-3-di-aldehyde-toward-sulfa-drugs
#6
Sherif M A S Keshk, Ahmed M Ramadan, Abdullah G Al-Sehemi, Ahmad Irfan, Samir Bondock
In an attempt to determine the reactivity during the periodate oxidation of the vicinal amino sugar, chitosan was oxidized by KIO4 in a neutral medium. The reactivity was unexpectedly found to be low. The formation of di-aldehyde chitosan (DACT) might cause the low reactivity of chitosan oxidation. Therefore, density functional theory (DFT) calculations were carried out, which revealed that the greater stability of the cyclic amino iodate intermediate might retard the ring opening to form DACT. Furthermore, the affinity of the formation of two novel Schiff bases from the interaction of delivered DACT with two sulfa drugs [sulfanilamide and sulfathiazole] was also investigated using aldehyde content estimation...
November 1, 2017: Carbohydrate Polymers
https://www.readbyqxmd.com/read/28917763/expanded-uncertainty-associated-with-determination-of-isotope-enrichment-factors-comparison-of-two-point-calculation-and-rayleigh-plot
#7
Maxime Julien, Alexis Gilbert, Keita Yamada, Richard J Robins, Patrick Höhener, Naohiro Yoshida, Gérald S Remaud
The enrichment factor (ε) is a common way to express Isotope Effects (IEs) associated with a phenomenon. Many studies determine ε using a Rayleigh-plot, which needs multiple data points. More recent articles describe an alternative method using the Rayleigh equation that allows the determination of ε using only one experimental point, but this method is often subject to controversy. However, a calculation method using two points (one experimental point and one at t0) should lead to the same results because the calculation is derived from the Rayleigh equation...
January 1, 2018: Talanta
https://www.readbyqxmd.com/read/28917755/identification-of-trypanosomatids-by-detecting-single-nucleotide-fingerprints-using-dna-analysis-by-dynamic-chemistry-with-maldi-tof
#8
María Angélica Luque-González, Mavys Tabraue-Chávez, Bárbara López-Longarela, Rosario María Sánchez-Martín, Matilde Ortiz-González, Miguel Soriano-Rodríguez, José Antonio García-Salcedo, Salvatore Pernagallo, Juan José Díaz-Mochón
Protozoan parasites of the Trypanosomatidae family can cause devastating diseases in humans and animals, such as Human African Trypanosomiasis or Sleeping Sickness, Chagas disease and Leishmaniasis. Currently, there are molecular assays for detecting parasitic infections and their post-treatment monitoring based on nucleic acid amplification, but there are still certain limitations which limit the development of assays that can detect and discriminate between parasite infections with a single test. Here, we present the development of a novel molecular assay for the rapid identification of Trypanosomatids, integrating DNA analysis by dynamic chemistry in conjunction with Matrix-Assisted Laser Desorption Ionization - Time-of-Flight Mass Spectrometry (MALDI-ToF)...
January 1, 2018: Talanta
https://www.readbyqxmd.com/read/28917702/hominin-track-assemblages-from-okote-member-deposits-near-ileret-kenya-and-their-implications-for-understanding-fossil-hominin-paleobiology-at-1-5%C3%A2-ma
#9
Kevin G Hatala, Neil T Roach, Kelly R Ostrofsky, Roshna E Wunderlich, Heather L Dingwall, Brian A Villmoare, David J Green, David R Braun, John W K Harris, Anna K Behrensmeyer, Brian G Richmond
Tracks can provide unique, direct records of behaviors of fossil organisms moving across their landscapes millions of years ago. While track discoveries have been rare in the human fossil record, over the last decade our team has uncovered multiple sediment surfaces within the Okote Member of the Koobi Fora Formation near Ileret, Kenya that contain large assemblages of ∼1.5 Ma fossil hominin tracks. Here, we provide detailed information on the context and nature of each of these discoveries, and we outline the specific data that are preserved on the Ileret hominin track surfaces...
September 13, 2017: Journal of Human Evolution
https://www.readbyqxmd.com/read/28917509/transfemoral-implantation-of-a-balloon-expandable-transcatheter-valve%C3%A2-in-a-rigid-mitral-annuloplasty-ring%C3%A2-optimized-by-post-dilatation
#10
Damiano Regazzoli, Stefano Stella, Silvia De Pinto, Matteo Montorfano, Marco Bruno Ancona, Antonio Mangieri, Nicola Buzzatti, Francesco Giannini, Eustachio Agricola, Fabrizio Monaco, Ottavio Alfieri, Antonio Colombo, Azeem Latib
No abstract text is available yet for this article.
September 6, 2017: JACC. Cardiovascular Interventions
https://www.readbyqxmd.com/read/28917485/self-expandable-metal-stent-use-to-palliate-malignant-esophagorespiratory-fistulas-in%C3%A2-88-patients
#11
Pyeong Hwa Kim, Kun Yung Kim, Ho-Young Song, Jiaywei Tsauo, Jung Hwan Park, Jung-Hoon Park, Min Tae Kim
PURPOSE: To identify predictors associated with clinical outcomes (initial clinical failure, stent patency, and survival) after self-expandable metal stent (SEMS) placement for malignant esophagorespiratory fistulas (ERFs). MATERIALS AND METHODS: Using logistic and Cox regression analyses, this study reviewed 88 patients (mean age 59.4 y ± 8.4; 84 men [95.5%] and 4 women [4.5%]) who underwent fluoroscopic SEMS placement for palliating malignant ERF from January 2000 to December 2016...
September 14, 2017: Journal of Vascular and Interventional Radiology: JVIR
https://www.readbyqxmd.com/read/28917250/emerging-technologies-in-stereotactic-body-radiotherapy
#12
Lijun Ma, Lei Wang, Chia-Lin Tseng, Arjun Sahgal
Stereotactic body radiation therapy (SBRT) stems from the initial developments of intra-cranial stereotactic radiosurgery (SRS). Despite similarity in their names and clinical goals of delivering a sufficiently high tumoricidal dose, maximal sparing of the surrounding normal tissues and a short treatment course, SBRT technologies have transformed from the early days of body frame-based treatments with X-ray verification to primarily image-guided procedures with cone-beam CT or stereoscopic X-ray systems and non-rigid body immo-bilization...
September 2017: Chinese Clinical Oncology
https://www.readbyqxmd.com/read/28917129/residential-road-traffic-noise-and-general-mental-health-in-youth-the-role-of-noise-annoyance-neighborhood-restorative-quality-physical-activity-and-social-cohesion-as-potential-mediators
#13
Angel Dzhambov, Boris Tilov, Iana Markevych, Donka Dimitrova
Given the ubiquitous nature of both noise pollution and mental disorders, their alleged association has not escaped the spotlight of public health research. The effect of traffic noise on mental health is probably mediated by other factors, which have not been elucidated sufficiently. Herein, we aimed to disentangle the pathways linking road traffic noise to general mental health in Bulgarian youth, with a focus on several candidate mediators - noise annoyance, perceived restorative quality of the living environment, physical activity, and neighborhood social cohesion...
September 13, 2017: Environment International
https://www.readbyqxmd.com/read/28917061/use-of-lipid-emulsion-therapy-in-local-anesthetic-overdose
#14
Ozgur Karcioglu
The use of intravenous lipid emulsion (ILE) therapy as antidote in systemic toxicity of certain agents has gained widespread support. There are increasing data suggesting use of ILE in reversing from local anesthetic-induced systemic toxicity severe, life-threatening cardiotoxicity, although findings are contradictory. Efficiency of ILE was demonstrated in animal studies in the treatment of severe impairment of cardiac functions, via a mechanism for trapping lipophilic drugs in an expanded plasma lipid compartment ("lipid sink")...
October 2017: Saudi Medical Journal
https://www.readbyqxmd.com/read/28916928/newborn-screening-in-the-era-of-precision-medicine
#15
Lan Yang, Jiajia Chen, Bairong Shen
As newborn screening success stories gained general confirmation during the past 50 years, scientists quickly discovered diagnostic tests for a host of genetic disorders that could be treated at birth. Outstanding progress in sequencing technologies over the last two decades has made it possible to comprehensively profile newborn screening (NBS) and identify clinically relevant genomic alterations. With the rapid developments in whole-genome sequencing (WGS) and whole-exome sequencing (WES) recently, we can detect newborns at the genomic level and be able to direct the appropriate diagnosis to the different individuals at the appropriate time, which is also encompassed in the concept of precision medicine...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28916901/pulmonic-valve-disease-review-of-pathology-and-current-treatment-options
#16
REVIEW
Mouhammad Fathallah, Richard A Krasuski
PURPOSE OF REVIEW: Our review is intended to provide readers with an overview of disease processes involving the pulmonic valve, highlighting recent outcome studies and guideline-based recommendations; with focus on the two most common interventions for treating pulmonic valve disease, balloon pulmonary valvuloplasty and pulmonic valve replacement. RECENT FINDINGS: The main long-term sequelae of balloon pulmonary valvuloplasty, the gold standard treatment for pulmonic stenosis, remain pulmonic regurgitation and valvular restenosis...
September 16, 2017: Current Cardiology Reports
https://www.readbyqxmd.com/read/28916895/the-cost-of-conversion-in-robotic-and-laparoscopic-colorectal-surgery
#17
Robert K Cleary, Andrew J Mullard, Jane Ferraro, Scott E Regenbogen
BACKGROUND: Conversion from minimally invasive to open colorectal surgery remains common and costly. Robotic colorectal surgery is associated with lower rates of conversion than laparoscopy, but institutions and payers remain concerned about equipment and implementation costs. Recognizing that reimbursement reform and bundled payments expand perspectives on cost to include the entire surgical episode, we evaluated the role of minimally invasive conversion in total payments. METHODS: This is an observational study from a linked data registry including clinical data from the Michigan Surgical Quality Collaborative and payment data from the Michigan Value Collaborative between July 2012 and April 2015...
September 15, 2017: Surgical Endoscopy
https://www.readbyqxmd.com/read/28916887/appropriate-imaging-utilization-in-japan-a-survey-of-accredited-radiology-training-hospitals
#18
Kanako K Kumamaru, Sadayuki Murayama, Yasuyuki Yamashita, Takeshi Nojo, Yoshiyuki Watanabe, Mariko Goto, Eriko Maeda, Junko Echigo, Shigeyoshi Soga, Shinya Fujii, Yutaka Tanami, Tetsuhiko Okabe, Masahiro Okada, Jiro Munechika, Hideki Ota, Mototaka Miyake, Hiroshi Honda, Shigeki Aoki
PURPOSE: To survey whether imaging is being performed appropriately in Japan, and to survey whether radiologists intervene to ensure imaging requests are appropriate. METHODS: An online survey was sent to radiologists at accredited radiology training hospitals. The survey included the radiologists' perspectives on whether imaging is performed appropriately at their institutions and whether they intervene if the indication for imaging is inappropriate/ambiguous. RESULTS: The response rate was 87...
September 15, 2017: Japanese Journal of Radiology
https://www.readbyqxmd.com/read/28916881/a-3d-mammometric-comparison-of-implant-based-breast-reconstruction-with-and-without-acellular-dermal-matrix-adm
#19
Cynthia Tsay, Victor Zhu, Tracy Sturrock, Ajul Shah, Stephanie Kwei
This retrospective study utilizes 3D imaging and mammometrics to compare implant-based breast reconstruction with and without the use of ADM. Previous studies have suggested improved aesthetic outcomes with the use of ADM, but none have been able to quantify this difference. Images were obtained at early and late time points following the expander-implant exchange procedure. Measurements included the point of maximum projection, the superior, inferior, medial and lateral volumetric distribution, and the distance from the point of maximum projection to the inframammary fold along the breast meridian...
September 15, 2017: Aesthetic Plastic Surgery
https://www.readbyqxmd.com/read/28916814/expression-of-brown-midrib-in-a-spontaneous-sorghum-mutant-is-linked-to-a-5-utr-deletion-in-lignin-biosynthesis-gene-sbcad2
#20
Huang Li, Yinghua Huang
Brown midrib (bmr) mutants in sorghum (Sorghum bicolor (L.) Moench) and several other C4 grasses are associated with reduced lignin concentration, altered lignin composition and improved cell wall digestibility, which are desirable properties in biomass development for the emerging lignocellulosic biofuel industry. Studying bmr mutants has considerably expanded our understanding of the molecular basis underlying lignin biosynthesis and perturbation in grasses. In this study, we performed quantitative trait locus (QTL) analysis, identified and cloned a novel cinnamyl alcohol dehydrogenase allele (SbCAD2) that has an 8-bp deletion in its 5'-untranslated region (UTR), conferring the spontaneous brown midrib trait and lignin reduction in the sorghum germplasm line PI 595743...
September 15, 2017: Scientific Reports
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