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https://www.readbyqxmd.com/read/28441826/-a-childhood-onset-rapid-onset-dystonia-parkinsonism-family-with-atp1a3-gene-mutation-and-literatures-review
#1
C L Zhang, F Yin, F He, N Gai, Z Q Shi, J Peng
Objective: To explore clinical characteristics, treatment, and prognosis of a family with childhood-onset rapid-onset dystonia parkinsonism (RDP) caused by ATP1A3 gene mutation and review literatures. Method: The clinical data of a RDP child, his brother and mother had been analyzed retrospectively. This family was admitted to Xiangya Hospital in January 2016. DNA samples were analyzed by the next-generation sequencing and confirmed by Sanger sequencing. Related literature from PubMed, Online Mendelian Inheritance in Man (OMIM), CNKI and Wanfang databases to date (up to October 2016) with"Rapid-onset dystonia-parkinsonism"RDP"DYT12" as key words was reviewed...
April 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28441821/-assessment-of-undiagnosed-critical-congenital-heart-disease-before-discharge-from-the-maternity-hospital
#2
Q M Zhao, F Liu, L Wu, M Ye, B Jia, X J Ma, G Y Huang
Objective: Undiagnosed critical congenital heart disease (CCHD) was assessed before discharge from maternity hospital.Basic information was provided for screening CCHD in the early neonatal stage.Chi-squared test was used for comparison of categorical variables(detection rate of different types of CCHD). Method: A retrospective cohort study was conducted in neonates with CCHD who were admitted to Children's Hospital of Fudan University between 1 January 2012 and 31 December 2015. For comparing with the previously reported undiagnosed rate of CCHD at discharge, CCHD was defined as all duct dependent congenital heart disease (DDCHD) and any cyanotic CHD that required early surgery...
April 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28441782/deep-sequencing-analysis-of-rnas-from-citrus-plants-grown-in-a-citrus-sudden-death-affected-area-reveals-diverse-known-and-putative-novel-viruses
#3
Emilyn E Matsumura, Helvecio D Coletta-Filho, Shahideh Nouri, Bryce W Falk, Luca Nerva, Tiago S Oliveira, Silvia O Dorta, Marcos A Machado
Citrus sudden death (CSD) has caused the death of approximately four million orange trees in a very important citrus region in Brazil. Although its etiology is still not completely clear, symptoms and distribution of affected plants indicate a viral disease. In a search for viruses associated with CSD, we have performed a comparative high-throughput sequencing analysis of the transcriptome and small RNAs from CSD-symptomatic and -asymptomatic plants using the Illumina platform. The data revealed mixed infections that included Citrus tristeza virus (CTV) as the most predominant virus, followed by the Citrus sudden death-associated virus (CSDaV), Citrus endogenous pararetrovirus (CitPRV) and two putative novel viruses tentatively named Citrus jingmen-like virus (CJLV), and Citrus virga-like virus (CVLV)...
April 24, 2017: Viruses
https://www.readbyqxmd.com/read/28441780/pollen-grain-preservation-and-fertility-in-valuable-commercial-rose-cultivars
#4
Annalisa Giovannini, Anca Macovei, Matteo Caser, Andrea Mansuino, Gian Guido Ghione, Marco Savona, Daniela Carbonera, Valentina Scariot, Alma Balestrazzi
In the cut flower market, traditional breeding is still the best way to achieve new rose cultivars. The geographical delocalization of cultivar constitution (generally made in Europe and North America) and plant cultivation (large areas in Africa and South America) represents a limit point for crossing and selection. Rose breeders often need to overcome geographical distances, resulting in asynchrony in flowering among crossing parents, by storing and sending pollen. Hence, a key aspect in breeding programs is linked to pollen availability and conservation, jointly with the identification of parameters related to pollen fertility...
April 24, 2017: Plants (Basel, Switzerland)
https://www.readbyqxmd.com/read/28441778/gene-expression-analysis-before-and-after-treatment-with-adalimumab-in-patients-with-ankylosing-spondylitis-identifies-molecular-pathways-associated-with-response-to-therapy
#5
Marzia Dolcino, Elisa Tinazzi, Andrea Pelosi, Giuseppe Patuzzo, Francesca Moretta, Claudio Lunardi, Antonio Puccetti
The etiology of Ankylosing spondylitis (AS) is still unknown and the identification of the involved molecular pathogenetic pathways is a current challenge in the study of the disease. Adalimumab (ADA), an anti-tumor necrosis factor (TNF)-alpha agent, is used in the treatment of AS. We aimed at identifying pathogenetic pathways modified by ADA in patients with a good response to the treatment. Gene expression analysis of Peripheral Blood Cells (PBC) from six responders and four not responder patients was performed before and after treatment...
April 24, 2017: Genes
https://www.readbyqxmd.com/read/28441774/brain-derived-neurotrophic-factor-mediated-perfluorooctane-sulfonate-induced-neurotoxicity-via-epigenetics-regulation-in-sk-n-sh-cells
#6
Xin-Xin Guo, Qing-Zhi He, Wu Li, Ding-Xin Long, Xiao-Yuan Pan, Cong Chen, Huai-Cai Zeng
Perfluorooctane sulfonate (PFOS), a new kind of persistent organic pollutant, is widely distributed in the environment and exists in various organisms, where it is also a neurotoxic compound. However, the potential mechanism of its neurotoxicity is still unclear. To examine the role of epigenetics in the neurotoxicity induced by PFOS, SK-N-SH cells were treated with different concentrations of PFOS or control medium (0.1% DMSO) for 48 h. The mRNA levels of DNA methyltransferases (DNMTs) and Brain-derived neurotrophic factor (BDNF), microRNA-16, microRNA-22, and microRNA-30a-5p were detected by Quantitative PCR (QPCR)...
April 24, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28441729/the-influence-of-hydroxyapatite-nanoparticle-morphology-on-embryonic-development-in-a-zebrafish-exposure-model
#7
Shiuli Pujari-Palmer, Xi Lu, Marjam Karlsson Ott
Nanomaterials are used in many different industries such as cosmetics, food, clothing, and electronics. There is increasing concern that exposure to nanoparticles (NPs) during pregnancy can adversely affect fetal development. It is well known that the size, charge, and chemistry of a nanoparticle can modulate embryological development. The role that particle morphology plays on early development, however, is still widely unknown. The present study aims to investigate the effect of hydroxyapatite nanoparticle (HANP) morphology on embryological development in a zebrafish exposure model...
April 22, 2017: Nanomaterials
https://www.readbyqxmd.com/read/28441689/coeliac-disease-further-evidence-that-biopsy-is-not-always-necessary-for-diagnosis
#8
Geoffrey K T Holmes, Julia M Forsyth, Sarah Knowles, Helen Seddon, Peter G Hill, Andrew S Austin
OBJECTIVES: Growing evidence supports the view that the diagnosis of coeliac disease (CD) can be made by serological tests alone, although this approach is still not widely accepted. We previously showed in retrospective and prospective studies that in adults an IgA-tissue transglutaminase antibody cut-off can be defined above which the positive predictive value for CD is 100%. Following a change in the analytical method for measuring the antibody, our objectives were to re-examine this finding in a larger series of adults to ascertain whether a diagnosis of CD can be reliably made in a proportion of patients without the need for small bowel biopsy and to re-evaluate the diagnostic guidelines used in our centre...
June 2017: European Journal of Gastroenterology & Hepatology
https://www.readbyqxmd.com/read/28441683/geometric-torsion-in-adolescent-idiopathic-scoliosis-a-new-method-to-differentiate-between-lenke-1-subtypes
#9
Jesse Shen, Samuel Kadoury, Hubert Labelle, Marjolaine Roy-Beaudry, Carl-√Čric Aubin, Stefan Parent
STUDY DESIGN: Consecutive case series. OBJECTIVE: To study geometric torsion in thoracic adolescent idiopathic scoliosis (AIS) to propose it as a numerical three-dimensional (3D) parameter that quantifies the scoliosis deformity. SUMMARY OF BACKGROUND DATA: AIS is a 3D deformity of the spine. The most widely accepted and used classification systems, however, still rely on two-dimensional aspects of x-rays. Yet, a 3D classification of AIS remains elusive because there is no widely accepted 3D parameter in the clinical practice...
May 1, 2017: Spine
https://www.readbyqxmd.com/read/28441676/transitioning-from-volume-to-value-one-academic-medical-center-s-approach-to-improving-population-health
#10
Stephanie A C Halvorson, Mary E Tanski, Thomas R Yackel
PROBLEM: The U.S. health care system is undergoing a major transformation. Clinical delivery systems are now being paid according to the value of the care they provide, in accordance with the Triple Aim, which incorporates improving the quality and cost of care and the patient experience. Increasingly, financial risk is being transferred from insurers to clinical delivery systems that become responsible for both episode-based clinical care and the longitudinal care of patients. Thus, these delivery systems need to develop strategies to manage the health of populations...
May 2017: Academic Medicine: Journal of the Association of American Medical Colleges
https://www.readbyqxmd.com/read/28441671/swimming-upstream-creating-a-culture-of-high-value-care
#11
Reshma Gupta, Christopher Moriates
As health system leaders strategize the best ways to encourage the transition toward value-based health care, the underlying culture-defined as a system of shared assumptions, values, beliefs, and norms existing within an environment-continues to shape clinician practice patterns. The current prevailing medical culture contributes to overtesting, overtreatment, and health care waste. Choosing Wisely lists, appropriateness criteria, and guidelines codify best practices, but academic medicine as a whole must recognize that faculty and trainees are all largely still operating within the same cultural climate...
May 2017: Academic Medicine: Journal of the Association of American Medical Colleges
https://www.readbyqxmd.com/read/28441665/microrna-1185-promotes-arterial-stiffness-though-modulating-vcam-1-and-e-selectin-expression
#12
Haoyuan Deng, Zhenfeng Song, Huan Xu, Xinrui Deng, Qiao Zhang, Hongyu Chen, Yanjiao Wang, Ying Qin, Ying Li
BACKGROUND/AIMS: Atherosclerosis is the primary cause of cardiovascular ischaemic events; arterial stiffness is a characteristic of the atherosclerotic process. MicroRNAs (miRNAs) have been revealed as crucial modulators of atherosclerosis. However, the role of arterial stiffness-related miRNAs in the atherosclerotic process is still unclear. METHODS: Four hundred six participants from Northern China were enrolled in this study. Circulating miR-1185 and adhesion molecule levels were measured...
April 20, 2017: Cellular Physiology and Biochemistry
https://www.readbyqxmd.com/read/28441651/serum-creatinine-not-so-simple
#13
Pierre Delanaye, Etienne Cavalier, Hans Pottel
Measuring serum creatinine is cheap and commonly done in daily practice. However, interpretation of serum creatinine results is not always easy. In this review, we will briefly remind the physiological limitations of serum creatinine due notably to its tubular secretion and the influence of muscular mass or protein intake on its concentration. We mainly focus on the analytical limitations of serum creatinine, insisting on important concept such as reference intervals, standardization (and IDMS traceability), analytical interferences, analytical coefficient of variation (CV), biological CV and critical difference...
April 26, 2017: Nephron
https://www.readbyqxmd.com/read/28441638/health-risk-assessment-for-the-consumption-of-fresh-and-preserved-fish-alosa-agone-from-lago-di-como-northern-italy
#14
Silvia Quadroni, Roberta Bettinetti
BACKGROUND: Although banned in many countries for decades, DDTs and PCBs still represent a global threat to food safety. As these contaminants are still present in aquatic ecosystems, fish can be an important contributor to their total dietary intake. OBJECTIVES: Alosa agone specimens were sampled over a period of 10 years (from 2006 to 2015) to provide a representative overview of the DDT and PCB levels of Lago di Como, a deep Italian lake where a DDT input due to secondary sources was observed in recent years...
April 22, 2017: Environmental Research
https://www.readbyqxmd.com/read/28441616/core-shell-hierarchical-mesostructured-silica-nanoparticles-for-gene-chemo-synergetic-stepwise-therapy-of-multidrug-resistant-cancer
#15
Lijun Sun, Dangge Wang, Yu Chen, Liying Wang, Ping Huang, Yaping Li, Ziwei Liu, Heliang Yao, Jianlin Shi
The design and synthesis of hierarchically nanoporous structures for the co-encapsulation and sequential releases of different cargos are still great challenges in biomedical applications. In this work, we report on the elaborate design and controlled synthesis of a unique core-shell hierarchical mesoporous silica/organosilica nanosystem, in which there are large and small mesopores separately present in the shell and core, facilitating the independent encapsulations of large (siRNA) and small (doxorubicin) molecules, respectively...
April 18, 2017: Biomaterials
https://www.readbyqxmd.com/read/28441542/reattachment-using-the-suture-bridge-augmentation-for-achilles-tendon-avulsion-fracture-with-osteoporotic-bony-fragment
#16
Byung-Ki Cho, Ji-Kang Park, Seung-Myung Choi
Although avulsion fractures of the calcaneal tuberosity are rare injuries, these can be a challenging problem with frequent complications, such as loss of reduction and soft tissue problem. Anatomical reduction and internal fixation are indicated to avoid these pitfalls and to restore function of the triceps surae. However, the best fixation device and operative technique are still controversial. A case that achieved satisfactory clinical outcome through a reattachment technique using the suture bridge augmentation for Achilles tendon avulsion fracture with osteoporotic bony fragment is presented...
April 15, 2017: Foot
https://www.readbyqxmd.com/read/28441495/catalytic-directional-cutting-of-hexagonal-boron-nitride-the-roles-of-interface-and-etching-agent
#17
Liang Ma, Xiao Cheng Zeng
Transition-metal (TM) nanoparticle catalyzed cutting has been proven to be an efficient approach to carve out straight channels in graphene to produce high-quality nanoribbons. However, applicability of such a catalytic approach to hexagonal boron nitride (h-BN) is still an open question due to binary element compositions. Here, our ab initio study indicates that long/straight channels along either zigzag or armchair direction of the BN sheet can be carved out, driven by the energetically favored TM-zigzag or TM-armchair BN interface, regardless of roughness of TM particle surface...
April 25, 2017: Nano Letters
https://www.readbyqxmd.com/read/28441482/the-value-of-nmr-parameters-and-dft-calculations-for-quantum-information-processing-utilizing-phosphorus-heterocycles
#18
Jessica Boreli Dos Reis Lino, Eduardo P Rocha, Teodorico Castro Ramalho
Quantum computing is the field of science that uses quantum-mechanical phenomena, such as superposition and entanglement, to perform operations on data. The fundamental information unit used in quantum computing is the quantum bit or qubit. It is well-known that quantum computers could theoretically be able to solve problems much more quickly than any classical computers. Currently, the first and still the most successful implementations of quantum information processing (QIP) have been based on nuclear spins in liquids...
April 25, 2017: Journal of Physical Chemistry. A
https://www.readbyqxmd.com/read/28441470/al2o3-and-sio2-atomic-layer-deposition-layers-on-zno-photoanodes-and-degradation-mechanisms
#19
Qian Cheng, Manpuneet Kaur Benipal, Qianlang Liu, Xingye Wang, Peter A A Crozier, Candace K Chan, Robert J Nemanich
Strategies for protecting unstable semiconductors include the utilization of surface layers comprised of thin films deposited using atomic layer deposition (ALD). The protective layer is expected to: (1) be stable against reaction with photogenerated holes, (2) prevent direct contact of the unstable semiconductor with the electrolyte, and (3) prevent the migration of ions through the semiconductor/electrolyte interface, while still allowing photogenerated carriers to transport to the interface and participate in the desired redox reactions...
April 25, 2017: ACS Applied Materials & Interfaces
https://www.readbyqxmd.com/read/28441464/crucial-roles-of-pox-neuro-in-the-developing-ellipsoid-body-and-antennal-lobes-of-the-drosophila-brain
#20
Shilpi Minocha, Werner Boll, Markus Noll
The paired box gene Pox neuro (Poxn) is expressed in two bilaterally symmetric neuronal clusters of the developing adult Drosophila brain, a protocerebral dorsal cluster (DC) and a deutocerebral ventral cluster (VC). We show that all cells that express Poxn in the developing brain are postmitotic neurons. During embryogenesis, the DC and VC consist of only 20 and 12 neurons that express Poxn, designated embryonic Poxn-neurons. The number of Poxn-neurons increases only during the third larval instar, when the DC and VC increase dramatically to about 242 and 109 Poxn-neurons, respectively, virtually all of which survive to the adult stage, while no new Poxn-neurons are added during metamorphosis...
2017: PloS One
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