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https://www.readbyqxmd.com/read/27914139/genetic-variations-of-the-kiss1r-gene-in-korean-girls-with-central-precocious-puberty
#1
Yeon Joung Oh, Young Jun Rhie, Hyo Kyoung Nam, Hye Ryun Kim, Kee Hyoung Lee
The timing of puberty onset varies greatly among individuals, and much of this variation is modulated by genetic factors. This study aimed to identify the kisspeptin receptor (KISS1R) gene variations and to investigate the associations between these variations and central precocious puberty (CPP). Korean girls with CPP (n = 194) and their healthy controls (n = 99) were included in this study. The entire coding region and the exon-intron boundaries (exon 1 through 5) of the KISS1R gene were directly sequenced...
January 2017: Journal of Korean Medical Science
https://www.readbyqxmd.com/read/27914101/tuc-338-promotes-invasion-and-metastasis-in-colorectal-cancer
#2
Chenghai Wang, Zheng Wang, Jie Zhou, Shuang Liu, Cong Wu, Caihong Huang, Yongling Ding
Ultraconserved regions (UCRs) are non-protein coding gene sequences that are strictly conserved across among different species. Emerging evidence demonstrates that transcribed ultraconserved regions (TUCRs) encoding noncoding RNAs serve as regulators of gene expression. In recent decades, increasing evidence implicates the involvement of UCRs in carcinogenesis. The role of TUC.338 in cervical cancers was an oncogene in previous studies. Until now, the role of TUC.338 in colorectal cancers remains undefined...
December 3, 2016: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/27914016/ms-ms-assisted-design-of-sequence-controlled-synthetic-polymers-for-improved-reading-of-encoded-information
#3
Laurence Charles, Gianni Cavallo, Valérie Monnier, Laurence Oswald, Roza Szweda, Jean-François Lutz
In order to improve their MS/MS sequencing, structure of sequence-controlled synthetic polymers can be optimized based on considerations regarding their fragmentation behavior in collision-induced dissociation conditions, as demonstrated here for two digitally encoded polymer families. In poly(triazole amide)s, the main dissociation route proceeded via cleavage of the amide bond in each monomer, hence allowing the chains to be safely sequenced. However, a competitive cleavage of an ether bond in a tri(ethylene glycol) spacer placed between each coding moiety complicated MS/MS spectra while not bringing new structural information...
December 2, 2016: Journal of the American Society for Mass Spectrometry
https://www.readbyqxmd.com/read/27913929/-inpatient-multimodal-pain-therapy-additive-value-of-neuromuscular-core-stability-exercises-for-chronic-back-pain
#4
F Giesche, H Streicher, M Maiwald, P Wagner
INTRODUCTION: The medical and healthcare economic burden caused by chronic lumbar back pain (CLBP) requires the use of interdisciplinary treatment approaches. The present study aimed to evaluate whether the effectiveness of inpatient multimodal pain therapy (MPT, operations and procedures (OPS) coding 8-918.02), can be increased by implementing additional neuromuscular core stability exercises (NCSE). MATERIAL AND METHODS: As part of a prospective controlled study, subjects with CLBP (n = 48, 17 males, 58...
December 2, 2016: Der Schmerz
https://www.readbyqxmd.com/read/27913916/development-of-international-terminology-and-definitions-for-texture-modified-foods-and-thickened-fluids-used-in-dysphagia-management-the-iddsi-framework
#5
Julie A Y Cichero, Peter Lam, Catriona M Steele, Ben Hanson, Jianshe Chen, Roberto O Dantas, Janice Duivestein, Jun Kayashita, Caroline Lecko, Joseph Murray, Mershen Pillay, Luis Riquelme, Soenke Stanschus
Dysphagia is estimated to affect ~8% of the world's population (~590 million people). Texture-modified foods and thickened drinks are commonly used to reduce the risks of choking and aspiration. The International Dysphagia Diet Standardisation Initiative (IDDSI) was founded with the goal of developing globally standardized terminology and definitions for texture-modified foods and liquids applicable to individuals with dysphagia of all ages, in all care settings, and all cultures. A multi-professional volunteer committee developed a dysphagia diet framework through systematic review and stakeholder consultation...
December 2, 2016: Dysphagia
https://www.readbyqxmd.com/read/27913714/measuring-offenders-belief-in-the-possibility-of-desistance
#6
Kevin O'Sullivan, Rochelle Williams, Xiang Yan Hong, David Bright, Richard Kemp
This article describes the use of a questionnaire to measure offenders' belief in the likelihood of their making a successful re-entry into society after having committed crime, a "belief in redeemability" (BIR) as described by Maruna and King. The 37 items for the scale were taken from statements by offenders about their prospects of making good. This set of items was tested with a pilot group of offenders recruited from clients on parole or on supervised bonds at community corrections offices in metropolitan Sydney, Australia, and their responses were coded to yield a score we called the "BIR" score...
December 1, 2016: International Journal of Offender Therapy and Comparative Criminology
https://www.readbyqxmd.com/read/27913667/molecular-basis-for-specificity-of-the-met1-linked-polyubiquitin-signal
#7
REVIEW
Paul R Elliott
The post-translational modification of proteins provides a rapid and versatile system for regulating all signalling pathways. Protein ubiquitination is one such type of post-translational modification involved in controlling numerous cellular processes. The unique ability of ubiquitin to form polyubiquitin chains creates a highly complex code responsible for different subsequent signalling outcomes. Specialised enzymes ('writers') generate the ubiquitin code, whereas other enzymes ('erasers') disassemble it...
December 15, 2016: Biochemical Society Transactions
https://www.readbyqxmd.com/read/27913643/biogenesis-and-transcriptional-regulation-of-long-noncoding-rnas-in-the-human-immune-system
#8
REVIEW
Charles F Spurlock, Philip S Crooke, Thomas M Aune
The central dogma of molecular biology states that DNA makes RNA makes protein. Discoveries over the last quarter of a century found that the process of DNA transcription into RNA gives rise to a diverse array of functional RNA species, including genes that code for protein and noncoding RNAs. For decades, the focus has been on understanding how protein-coding genes are regulated to influence protein expression. However, with the completion of the Human Genome Project and follow-up ENCODE data, it is now appreciated that only 2-3% of the genome codes for protein-coding gene exons and that the bulk of the transcribed genome, apart from ribosomal RNAs, is at the level of noncoding RNA genes...
December 15, 2016: Journal of Immunology: Official Journal of the American Association of Immunologists
https://www.readbyqxmd.com/read/27913617/evaluating-sequence-based-genomic-prediction-with-an-efficient-new-simulator
#9
Miguel Pérez-Enciso, Natalia Forneris, Gustavo de Los Campos, Andrés Legarra
The vast amount of sequence data to analyze complex traits is posing new challenges in terms of analysis and interpretation of the results. Although simulation is a fundamental tool to investigate the reliability of genomic analyses and to optimize experimental design, existing software cannot simulate complete genomes realistically. To remedy this, we have developed a new strategy (Sequence Based Virtual Breeding, SBVB) that consists of using real sequence data and simulating new offspring genomes and phenotypes in a very efficient and flexible manner...
December 2, 2016: Genetics
https://www.readbyqxmd.com/read/27913609/ap2s1-and-gna11-mutations-not-a-common-cause-of-familial-hypocalciuric-hypercalcemia
#10
Silje Hovden, Lars Rejnmark, Søren A Ladefoged, Peter H Nissen
OBJECTIVE: Familial hypocalciuric hypercalcemia (FHH) type 1 is caused by mutations in the gene encoding the calcium-sensing receptor (CASR). Recently, mutations affecting codon 15 in the gene AP2S1 have been shown to cause FHH type 3 in up to 26% of CASR-negative FHH patients. Similarly, mutations in the gene GNA11 have been shown to cause FHH type 2. We hypothesized that mutations in AP2S1 and GNA11 are causative in Danish patients with suspected FHH and that these mutations are not found in patients with primary hyperparathyroidism (PHPT), which is the main differential diagnostic disorder...
February 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/27913582/bremsstrahlung-dose-yield-for-high-intensity-short-pulse-laser-solid-experiments
#11
Taiee Liang, Johannes M Bauer, James C Liu, Sayed H Rokni
A bremsstrahlung source term has been developed by the Radiation Protection (RP) group at SLAC National Accelerator Laboratory for high-intensity short-pulse laser-solid experiments between 10(17) and 10(22) W cm(-2) This source term couples the particle-in-cell plasma code EPOCH and the radiation transport code FLUKA to estimate the bremsstrahlung dose yield from laser-solid interactions. EPOCH characterizes the energy distribution, angular distribution, and laser-to-electron conversion efficiency of the hot electrons from laser-solid interactions, and FLUKA utilizes this hot electron source term to calculate a bremsstrahlung dose yield (mSv per J of laser energy on target)...
December 1, 2016: Radiation Protection Dosimetry
https://www.readbyqxmd.com/read/27913417/development-of-an-improved-system-for-the-generation-of-knock-out-mutants-of-amycolatopsis-sp-atcc-39116
#12
Florian Meyer, Hilke Pupkes, Alexander Steinbüchel
The Gram-positive actinomycete Amycolatopsis sp. ATCC 39116 is used for the industrial production of natural vanillin. Previously, the only gene deletion performed in this strain targeted the gene vdh coding for a vanillin dehydrogenase. The generation of this mutant suffered from a high number of illegitimate recombinations and the low rate of homologous recombination. To alleviate this, we constructed an optimized deletion system based on a modified suicide vector. Thereby, we were able to enhance the rate of homologous integration from less than 1% of the analyzed clones to 20% or 50% depending on the targeted gene...
December 2, 2016: Applied and Environmental Microbiology
https://www.readbyqxmd.com/read/27913366/deepr-a-convolutional-net-for-medical-records
#13
Phuoc Nguyen, Truyen Tran, Nilmini Wickramasinghe, Svetha Venkatesh
Feature engineering remains a major bottleneck when creating predictive systems from electronic medical records. At present, an important missing element is detecting predictive regular clinical motifs from irregular episodic records. We present Deepr (short for Deep record), a new end-to-end deep learning system that learns to extract features from medical records and predicts future risk automatically. Deepr transforms a record into a sequence of discrete elements separated by coded time gaps and hospital transfers...
December 1, 2016: IEEE Journal of Biomedical and Health Informatics
https://www.readbyqxmd.com/read/27913315/speech-enhancement-based-on-neural-networks-improves-speech-intelligibility-in-noise-for-cochlear-implant-users
#14
Tobias Goehring, Federico Bolner, Jessica J M Monaghan, Bas van Dijk, Andrzej Zarowski, Stefan Bleeck
Speech understanding in noisy environments is still one of the major challenges for cochlear implant (CI) users in everyday life. We evaluated a speech enhancement algorithm based on neural networks (NNSE) for improving speech intelligibility in noise for CI users. The algorithm decomposes the noisy speech signal into time-frequency units, extracts a set of auditory-inspired features and feeds them to the neural network to produce an estimation of which frequency channels contain more perceptually important information (higher signal-to-noise ratio, SNR)...
November 29, 2016: Hearing Research
https://www.readbyqxmd.com/read/27913250/identification-of-non-coding-and-coding-rnas-in-porcine-endometrium
#15
Yueying Wang, Tao Hu, Lihang Wu, Xiaoran Liu, Songyi Xue, Minggang Lei
One of the most critical periods of embryonic loss in pig is day 12 of pregnancy, when implantation begins. Here, we analyzed the gene expression on day 12 of pregnancy and non-pregnancy in the porcine endometrium using RNA sequencing (RNA-seq). 237 mRNAs, 34 lncRNAs and 1 miRNA were significantly differentially expressed between the two groups. Further functional analyses were conducted to identify these differentially expressed transcripts. The results demonstrated that they participate in various biological processes, such as cell adhesion, binding, nucleic and metabolic processes...
November 29, 2016: Genomics
https://www.readbyqxmd.com/read/27913246/measuring-content-overlap-during-handoff-communication-using-distributional-semantics-an-exploratory-study
#16
Joanna Abraham, Thomas Kannampallil, Vignesh Srinivasan, William Galanter, Gail Tagney, Trevor Cohen
OBJECTIVE: We develop and evaluate a methodological approach to measure the degree and nature of overlap in handoff communication content within and across clinical professions. This extensible, exploratory approach relies on combining techniques from conversational analysis and distributional semantics. MATERIALS AND METHODS: We audio-recorded handoff communication of residents and nurses on the General Medicine floor of a large academic hospital (n=120 resident and n=120 nurse handoffs)...
November 29, 2016: Journal of Biomedical Informatics
https://www.readbyqxmd.com/read/27913067/the-financial-impact-of-clinic-no-show-rates-in-an-academic-pediatric-otolaryngology-practice
#17
Zhen Huang, Mariam Ashraf, Heather Gordish-Dressman, Pamela Mudd
PURPOSE: To investigate determinants of no-show rates in an academic pediatric otolaryngology practice including appointment time, age, sex, new patient status, payer mix, and median household income by zip code. MATERIALS AND METHODS: Retrospective chart review of clinic no-show rates and patient demographics in a free standing children's hospital and affiliated outpatient clinics across eight providers in a one-year period. RESULTS: Analysis shows that the overall no-show rate across all providers was 15% with the highest rate of 19% in the zip code with the lowest median income...
November 23, 2016: American Journal of Otolaryngology
https://www.readbyqxmd.com/read/27912949/seasonal-variations-of-prescriptions-for-the-major-syndrome-types-and-manifestations-of-upper-respiratory-tract-infection-in-tradition-chinese-medicine
#18
Yuh-Hsiang Yeh, Yiing-Jenq Chou, Nicole Huang, Christy Pu, Pesus Chou
OBJECTIVE: The aim of this study is to investigate the seasonal variations of prescriptions for the three most common syndrome types and the three major manifestations of upper respiratory infections (URIs) according to the theories of traditional Chinese medicine (TCM). DESIGN: This is a cross-sectional study. We examined a random sample comprising 1,000,000 beneficiaries from the National Health Insurance program in 2005. Primary diagnoses including International Classification of Diseases, Ninth Revision, Clinical Modification Codes 460-465 and 487 were regarded as URIs, for which 160,357 prescriptions of Chinese herbal medicine were analyzed...
December 2016: Complementary Therapies in Medicine
https://www.readbyqxmd.com/read/27912778/medical-priority-dispatch-codes-comparison-with-national-early-warning-score
#19
Marko Hoikka, Sami Länkimäki, Tom Silfvast, Tero I Ala-Kokko
BACKGROUND: In Finland, calls for emergency medical services are prioritized by educated non-medical personnel into four categories-from A (highest risk) to D (lowest risk)-following a criteria-based national dispatch protocol. Discrepancies in triage may result in risk overestimation, leading to inappropriate use of emergency medical services units and to risk underestimation that can negatively impact patient outcome. To evaluate dispatch protocol accuracy, we assessed association between priority assigned at dispatch and the patient's condition assessed by emergency medical services on the scene using an early warning risk assessment tool...
December 3, 2016: Scandinavian Journal of Trauma, Resuscitation and Emergency Medicine
https://www.readbyqxmd.com/read/27912775/a-novel-long-non-coding-rna-lnc-gnat1-1-is-low-expressed-in-colorectal-cancer-and-acts-as-a-tumor-suppressor-through-regulating-rkip-nf-%C3%AE%C2%BAb-snail-circuit
#20
Chunxiang Ye, Zhanlong Shen, Bo Wang, Yansen Li, Tao Li, Yang Yang, Kewei Jiang, Yingjiang Ye, Shan Wang
BACKGROUND: The role of long non-coding RNAs (lncRNAs) in colorectal cancer (CRC) progression has not fully been elucidated. This study was designed to report the identification of a novel lncRNA, lnc-GNAT1-1, and its functional role in CRC progression. METHODS: lncRNA expression profile microarray was performed in three paired primary and liver metastatic tissues of CRC, and a novel lncRNA, lnc-GNAT1-1, was identified to be a potential functional lncRNA. Quantitative real-time PCR was used to detect its expression in CRC tissues, cell lines, and patients' plasma, cell fractionation was used to evaluate its subcellular location...
December 3, 2016: Journal of Experimental & Clinical Cancer Research: CR
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