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https://www.readbyqxmd.com/read/28722801/primary-familial-brain-calcification-with-a-novel-slc20a2-mutation-analysis-of-pit-2-expression-and-localization
#1
Ilaria Taglia, Patrizia Formichi, Carla Battisti, Giulia Peppoloni, Melissa Barghigiani, Alessandra Tessa, Antonio Federico
Primary Familial Brain Calcification (PFBC) is an autosomal dominant rare disorder characterized by bilateral and symmetric brain calcifications and neuropsychiatric manifestations. Four genes have been linked to PFBC: SLC20A2, PDGFRB, PDGFB and XPR1. In this study, we report molecular and clinical data of a PFBC patient carrying a novel SLC20A2 mutation and we investigate the impact of the mutation on PiT-2 expression and function. Sanger sequencing of SLC20A2, PDGFRB, PDGFB, XPR1 led to the identification of a novel duplication of twelve nucleotides (c...
July 19, 2017: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/28721997/selection-of-dental-implants-based-on-masticatory-load-of-the-patient-a-novel-approach
#2
Sindhu Sudhakar Kumararama, Ramesh Chowdhary
PURPOSE: Masticatory load and efficiency vary from one individual to other. Maximum load of one person may be the least load of another. Hence, optimization of dental implants based on the load dissipation of an individual is essential for a better prognosis of implant-supported prosthesis. The aim of the study was to find the appropriate implant dimensions for the particular region based on the masticatory efficiency of the individual. MATERIALS AND METHODS: A two-dimensional-threaded implant model was designed, which was duplicated in total 28 models with varying dimensions starting from 3 mm × 8 mm till 6 mm × 14 mm, with an incremental increase of 2 mm in length and 0...
May 2017: Indian Journal of Dental Research: Official Publication of Indian Society for Dental Research
https://www.readbyqxmd.com/read/28721024/cost-of-medication-adherence-and-persistence-in-type-2-diabetes-mellitus-a-literature-review
#3
REVIEW
Tessa Kennedy-Martin, Kristina S Boye, Xiaomei Peng
PURPOSE: To explore published evidence on health care costs associated with adherence or persistence to antidiabetes medications in adults with type 2 diabetes mellitus (T2DM). METHODS: Primary research studies published between January 2006 and December 2015 on compliance, adherence, or persistence and treatment in patients with T2DM that document a link with health care costs were identified through literature searches in bibliographic databases and 2015 abstract books for relevant DM congresses...
2017: Patient Preference and Adherence
https://www.readbyqxmd.com/read/28720681/the-eubivas-project-within-and-between-subject-biological-variation-data-for-serum-creatinine-using-enzymatic-and-alkaline-picrate-methods-and-implications-for-monitoring
#4
Anna Carobene, Irene Marino, Abdurrahman Coŝkun, Mustafa Serteser, Ibrahim Unsal, Elena Guerra, William A Bartlett, Sverre Sandberg, Aasne Karine Aarsand, Marit Sverresdotter Sylte, Thomas Røraas, Una Ørvim Sølvik, Pilar Fernandez-Calle, Jorge Díaz-Garzón, Francesca Tosato, Mario Plebani, Niels Jonker, Gerhard Barla, Ferruccio Ceriotti
BACKGROUND: The European Federation of Clinical Chemistry and Laboratory Medicine (EFLM) European Biological Variation Study (EuBIVAS) has been established to deliver rigorously determined biological variation (BV) indices. EuBIVAS determined BV for serum creatinine using the enzymatic and alkaline picrate measurement methods. METHOD: In total, 91 healthy individuals (38 males, 53 females; age range, 21-69 years) were bled for 10 consecutive weeks at 6 European laboratories...
July 18, 2017: Clinical Chemistry
https://www.readbyqxmd.com/read/28720649/the-greatest-kinetochore-show-on-earth
#5
Gerben Vader, Andrea Musacchio
Coordinated chromosome duplication and segregation is key to the existence of every organism on our planet. In eukaryotes, sophisticated protein assemblies called kinetochores are universally required for chromosome segregation, but their protein composition can diverge across the eukaryotic tree of life. In this issue of EMBO Reports, van Hooff et al [1] shed light on kinetochore evolution with a comprehensive study of kinetochore composition across 90 phylogenetically diverse eukaryotes. They show that certain kinetochore complexes have taken distinct evolutionary paths to arrive at a strikingly broad compositional array in present-day eukaryotes, providing exciting new insights into the origins, function, and flexibility of eukaryotic kinetochores...
July 18, 2017: EMBO Reports
https://www.readbyqxmd.com/read/28720579/recruitment-of-histone-modifications-to-assist-mrna-dosage-maintenance-after-degeneration-of-cytosine-dna-methylation-during-animal-evolution
#6
Andrew Yf Chang, Ben-Yang Liao
Following gene duplication, mRNA expression of the duplicated gene is reduced to maintain mRNA dosage. In mammals, this process is achieved with increased cytosine DNA methylation of the promoters of duplicated genes to suppress transcriptional initiation. However, not all animal species possess a full apparatus for cytosine DNA methylation. For such species such as roundworm (Caenorhabditis elegans, "worm" hereafter) or fruit fly (Drosophila melanogaster, "fly" hereafter), it is unclear how reduced expression of duplicated genes has been achieved evolutionarily...
July 18, 2017: Genome Research
https://www.readbyqxmd.com/read/28720553/response-to-growth-hormone-treatment-in-a-patient-with-insulin-like-growth-factor-1-receptor-igf1r-deletion
#7
Ranim Mahmoud, Ajanta Naidu, Hiba Risheg, Virginia Kimonis
We report a six year-old boy who presented with short stature, microcephaly, dysmorphic features and developmental delay, who was identified with a terminal deletion of 15q26.2q26.3 containing the insulin like growth factor receptor (IGF1R) gene, in addition to a terminal duplication of the 4q35.1q35.2 region. We compare our case with other reports of deletions and mutations affecting the IGF1R gene associated with pre-and postnatal growth restriction. We report the dramatic response to growth hormone therapy in this patient which highlights the importance of identifying patients with IGF1R deletion and treating them early...
July 17, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28720117/systematic-review-adherence-to-methodological-or-reporting-quality
#8
Kusala Pussegoda, Lucy Turner, Chantelle Garritty, Alain Mayhew, Becky Skidmore, Adrienne Stevens, Isabelle Boutron, Rafael Sarkis-Onofre, Lise M Bjerre, Asbjørn Hróbjartsson, Douglas G Altman, David Moher
BACKGROUND: Guidelines for assessing methodological and reporting quality of systematic reviews (SRs) were developed to contribute to implementing evidence-based health care and the reduction of research waste. As SRs assessing a cohort of SRs is becoming more prevalent in the literature and with the increased uptake of SR evidence for decision-making, methodological quality and standard of reporting of SRs is of interest. The objective of this study is to evaluate SR adherence to the Quality of Reporting of Meta-analyses (QUOROM) and PRISMA reporting guidelines and the A Measurement Tool to Assess Systematic Reviews (AMSTAR) and Overview Quality Assessment Questionnaire (OQAQ) quality assessment tools as evaluated in methodological overviews...
July 19, 2017: Systematic Reviews
https://www.readbyqxmd.com/read/28719323/burden-and-seasonality-of-viral-acute-respiratory-tract-infections-among-outpatients-in-southern-sri-lanka
#9
David Shapiro, Champica K Bodinayake, Ajith Nagahawatte, Vasantha Devasiri, Ruvini Kurukulasooriya, Jeremy Hsiang, Bradley Nicholson, Aruna Dharshan De Silva, Truls Østbye, Megan E Reller, Christopher W Woods, L Gayani Tillekeratne
In tropical and subtropical settings, the epidemiology of viral acute respiratory tract infections varies widely between countries. We determined the etiology, seasonality, and clinical presentation of viral acute respiratory tract infections among outpatients in southern Sri Lanka. From March 2013 to January 2015, we enrolled outpatients presenting with influenza-like illness (ILI). Nasal/nasopharyngeal samples were tested in duplicate using antigen-based rapid influenza testing and multiplex polymerase chain reaction (PCR) for respiratory viruses...
July 2017: American Journal of Tropical Medicine and Hygiene
https://www.readbyqxmd.com/read/28719153/in-source-collision-induced-dissociation-is-cid-applications-issues-and-structure-elucidation-with-single-stage-mass-analyzers
#10
Jon F Parcher, Mei Wang, Amar G Chittiboyina, Ikhlas A Khan
A discussion of the definition, advantages and issues with the formation of ions in the transition region between an ESI source and the ion optics of a mass analyzer is presented. The various types of ions formed in the so-called in-source collision induced dissociation (IS-CID) process are illustrated. Applications of IS-CID with single-stage mass analyzers, such as structure elucidation and quantitation, are demonstrated. The discussion is illustrated by examples of the in-source fragmentation of ginkgolides, which are marker compounds found only in Ginkgo biloba...
July 18, 2017: Drug Testing and Analysis
https://www.readbyqxmd.com/read/28718196/retracted-cannabinoid-cb-2-receptors-modulate-erk-1-2-kinase-signalling-and-no-release-in-microglial-cells-stimulated-with-bacterial-lipopolysaccharide-by-s-merighi-s-gessi-k-varani-c-simioni-d-fazzi-p-mirandola-and-p-a-borea-british-journal-of-pharmacology
#11
(no author information available yet)
The above article, published by the British Journal of Pharmacology in March 2012 (http://onlinelibrary.wiley.com/doi/10.1111/j.1476-5381.2011.01673.x/full), has been retracted by agreement between the authors, the Journal Editor in Chief and John Wiley & Sons Ltd. The authors wish to state that in preparation of the original manuscript errors occurred resulting in duplication. This issue relates specifically to Figures 2A and 2B, lanes 3-5 of the pJNK1/2 in Figure 3B and lanes 1-3 of the pJNK1/2 blot from Figure 3C...
August 2017: British Journal of Pharmacology
https://www.readbyqxmd.com/read/28717397/how-do-we-avoid-disaster-when-exiting-the-european-medicines-agency-making-the-most-of-brexit-in-pharmaceutical-regulation
#12
EDITORIAL
Anthony James Hatswell
As the UK prepares to leave the EU, it must decide what path it is to take with a large number of regulatory and technical agencies who provide collaboration at the European level. In the case of pharmaceuticals, the European Medicines Agency (EMA) provides pan-European licencing for novel pharmaceuticals. Should the UK depart from the EMA system, this article highlights the loss to patients immediately (slower access to novel treatments), and in the long term by having no access to some novel products as companies choose not to launch in the UK...
2017: Ecancermedicalscience
https://www.readbyqxmd.com/read/28717320/coxiellosis-in-domestic-livestock-of-puducherry-and-tamil-nadu-detection-of-coxiella-burnetii-dna-by-polymerase-chain-reaction-in-slaughtered-ruminants
#13
Jothimani Pradeep, Selvaraj Stephen, Pratheesh Pooja, Anbalagan Akshayavardhini, Balakrishnan Sangeetha, Prabakar Xavier Antony
BACKGROUND AND AIM: In the course of our Indian Council of Medical Research project on coxiellosis in Puducherry and Tamil Nadu, 5.64% goat, 1.85% sheep, 1.06% buffaloes, and 0.97% cattle were positive for Coxiella burnetii antibodies by enzyme linked immunosorbent assay kit (IDEXX, Liebefeld, Switzerland). In this preliminary study, we have proceeded to look for C. burnetii DNA in those antibody positive specimens employing an imported commercial C. burnetii polymerase chain reaction (PCR) kit...
June 2017: Veterinary World
https://www.readbyqxmd.com/read/28717203/genome-wide-identification-and-characterization-of-circular-rnas-by-high-throughput-sequencing-in-soybean
#14
Wei Zhao, Yihui Cheng, Chi Zhang, Qingbo You, Xinjie Shen, Wei Guo, Yongqing Jiao
Circular RNAs (circRNAs) arise during pre-mRNA splicing, in which the 3' and 5' ends are linked to each other by a covalent bond. Soybean is an ancient tetraploid, which underwent two whole genome duplications. Most of soybean genes are paralogous genes with multiple copies. Although many circRNAs have been identified in animals and plants, little is known about soybean circRNAs, especially about circRNAs derived from paralogous genes. Here, we used deep sequencing technology coupled with RNase R enrichment strategy and bioinformatic approach to uncover circRNAs in soybean...
July 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28717047/annotated-draft-genome-assemblies-for-the-northern-bobwhite-colinus-virginianus-and-the-scaled-quail-callipepla-squamata-reveal-disparate-estimates-of-modern-genome-diversity-and-historic-effective-population-size
#15
David L Oldeschulte, Yvette A Halley, Miranda L Wilson, Eric K Bhattarai, Wesley Brashear, Joshua Hill, Richard P Metz, Charles D Johnson, Dale Rollins, Markus J Peterson, Derek M Bickhart, Jared E Decker, John F Sewell, Christopher M Seabury
Northern bobwhite (Colinus virginianus; hereafter bobwhite) and scaled quail (Callipepla squamata) populations have suffered precipitous declines across most of their U.S. ranges. Illumina-based first- (v1.0) and second-generation (v2.0) draft genome assemblies for the scaled quail and the bobwhite produced N50 scaffold sizes of 1.035 Mb and 2.042 Mb, thereby producing a 45-fold improvement in contiguity over the existing bobwhite assembly, and ≥ 90% of the assembled genomes were captured within 1,313 and 8,990 scaffolds, respectively...
July 17, 2017: G3: Genes—Genomes—Genetics
https://www.readbyqxmd.com/read/28716574/foregut-duplication-cyst-with-pseudostratified-columnar-ciliated-epithelium-a-case-report-and-review-of-the-literature
#16
Joshua T Byers, Dingle Foote, Patrick Choi, Samuel W French
Foregut duplication cysts are extremely rare congenital malformations. Herein we report a case of 73 year old male with a left upper quadrant abdominal lesion identified on CT scan.
July 14, 2017: Experimental and Molecular Pathology
https://www.readbyqxmd.com/read/28715491/towards-the-development-of-a-comprehensive-framework-qualitative-systematic-survey-of-definitions-of-clinical-research-quality
#17
Belinda von Niederhäusern, Stefan Schandelmaier, Marie Mi Bonde, Nicole Brunner, Lars G Hemkens, Marielle Rutquist, Neera Bhatnagar, Gordon H Guyatt, Christiane Pauli-Magnus, Matthias Briel
OBJECTIVE: To systematically survey existing definitions, concepts, and criteria of clinical research quality, both developed by stakeholder groups as well as in the medical literature. This study serves as a first step in the development of a comprehensive framework for the quality of clinical research. STUDY DESIGN AND SETTING: We systematically and in duplicate searched definitions, concepts and criteria of clinical research quality on websites of stakeholders in clinical research until no further insights emerged and in MEDLINE up to February 2015...
2017: PloS One
https://www.readbyqxmd.com/read/28715426/community-effectiveness-of-pyriproxyfen-as-a-dengue-vector-control-method-a-systematic-review
#18
Dorit Maoz, Tara Ward, Moody Samuel, Pie Müller, Silvia Runge-Ranzinger, Joao Toledo, Ross Boyce, Raman Velayudhan, Olaf Horstick
BACKGROUND: Vector control is the only widely utilised method for primary prevention and control of dengue. The use of pyriproxyfen may be promising, and autodissemination approach may reach hard to reach breeding places. It offers a unique mode of action (juvenile hormone mimic) and as an additional tool for the management of insecticide resistance among Aedes vectors. However, evidence of efficacy and community effectiveness (CE) remains limited. OBJECTIVE: The aim of this systematic review is to compile and analyse the existing literature for evidence on the CE of pyriproxyfen as a vector control method for reducing Ae...
July 17, 2017: PLoS Neglected Tropical Diseases
https://www.readbyqxmd.com/read/28715408/potential-risk-factors-associated-with-human-alveolar-echinococcosis-systematic-review-and-meta-analysis
#19
Franz J Conraths, Carolina Probst, Alessia Possenti, Belgees Boufana, Rosella Saulle, Giuseppe La Torre, Luca Busani, Adriano Casulli
BACKGROUND: Human alveolar echinococcosis (AE) is a severe zoonotic disease caused by the metacestode stage of Echinococcus multilocularis. AE is commonly associated with a long incubation period that may last for more than ten years. The objective of this systematic literature review was to identify and summarize the current knowledge on statistically relevant potential risk factors (PRFs) associated with AE in humans. METHODOLOGY/PRINCIPAL FINDINGS: Six bibliographic databases were searched, generating a total of 1,009 publications...
July 17, 2017: PLoS Neglected Tropical Diseases
https://www.readbyqxmd.com/read/28715335/evolutionary-model-for-the-statistical-divergence-of-paralogous-and-orthologous-gene-pairs-generated-by-whole-genome-duplication-and-speciation
#20
Yue Zhang, Chunfang Zheng, David Sankoff
We outline a principled approach to the analysis of duplicate gene similarity distributions, based on a model integrating sequence divergence and the process of fractionation of duplicate genes resulting from whole genome duplication (WGD). This model allows us predict duplicate gene similarity distributions for series of two or three WGD, for whole genome triplication followed by a WGD, and for triplication, followed by speciation, followed by WGD. We calculate the probabilities of all possible fates of a gene pair as its two members proliferate or are lost, predicting the number of surviving pairs from each event...
July 14, 2017: IEEE/ACM Transactions on Computational Biology and Bioinformatics
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