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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/28441768/probabilistic-fatigue-life-updating-for-railway-bridges-based-on-local-inspection-and-repair
#3
Young-Joo Lee, Robin E Kim, Wonho Suh, Kiwon Park
Railway bridges are exposed to repeated train loads, which may cause fatigue failure. As critical links in a transportation network, railway bridges are expected to survive for a target period of time, but sometimes they fail earlier than expected. To guarantee the target bridge life, bridge maintenance activities such as local inspection and repair should be undertaken properly. However, this is a challenging task because there are various sources of uncertainty associated with aging bridges, train loads, environmental conditions, and maintenance work...
April 24, 2017: Sensors
https://www.readbyqxmd.com/read/28441651/serum-creatinine-not-so-simple
#4
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/28441553/determination-of-critical-operational-conditions-favoring-sulfide-production-from-domestic-wastewater-treated-by-a-sulfur-utilizing-denitrification-process
#5
L Ghorbel, L Coudert, Y Gilbert, G Mercier, J F Blais
The aim of this study was to determine the critical operational conditions leading to the generation of sulfide in a domestic wastewater treated by a sulfur-utilizing denitrification process. The influence of various important parameters on the reduction of the sulfates present in denitrified domestic wastewaters to sulfide was studied. Experiments were carried out in batch mode with denitrified domestic wastewaters containing various amounts of both organic matter and sulfates. Preliminary results showed that aqueous sulfide was generated for DOC and sulfate contents higher than 56 mg/L and 371 mg/L, respectively, while DOC and sulfate contents of 77 mg/L and 412 mg/L, respectively, were required to allow the release of gaseous H2S...
April 22, 2017: Journal of Environmental Management
https://www.readbyqxmd.com/read/28441503/robust-uniform-and-highly-emissive-quantum-dot-polymer-films-and-patterns-using-thiol-ene-chemistry
#6
Markus Smith, Sidney T Malak, Jaehan Jung, Young Jun Yoon, Chun Hao Lin, Sunghan Kim, Kyung Min Lee, Ruilong Ma, Timothy J White, Timothy J Bunning, Zhiqun Lin, Vladimir V Tsukruk
This work demonstrates a facile and versatile method for generating low scattering crosslinked quantum dots (QD)-polymer composite films and patterned highly emissive structures with ultra-high QD loading, minimal phase-separation, and tunable mechanical properties. Uniform QD-polymer films are fabricated using thiol-ene chemistry, in which cross-linked polymer networks are rapidly produced in ambient conditions via fast UV polymerization in bulk to suppress QD aggregation. UV-controlled thiol-ene chemistry limits phase separation through producing highly QD loaded crosslinked composites with loading rate above majority of those reported in literature (<1%) and approaching 30%...
April 25, 2017: ACS Applied Materials & Interfaces
https://www.readbyqxmd.com/read/28441409/a-hypomorphic-piga-gene-mutation-causes-severe-defects-in-neuron-development-and-susceptibility-to-complement-mediated-toxicity-in-a-human-ipsc-model
#7
Xuan Yuan, Zhe Li, Andrea C Baines, Eleni Gavriilaki, Zhaohui Ye, Zhexing Wen, Evan M Braunstein, Leslie G Biesecker, Linzhao Cheng, Xinzhong Dong, Robert A Brodsky
Mutations in genes involved in glycosylphosphatidylinositol (GPI) anchor biosynthesis underlie a group of congenital syndromes characterized by severe neurodevelopmental defects. GPI anchored proteins have diverse roles in cell adhesion, signaling, metabolism and complement regulation. Over 30 enzymes are required for GPI anchor biosynthesis and PIGA is involved in the first step of this process. A hypomorphic mutation in the X-linked PIGA gene (c.1234C>T) causes multiple congenital anomalies hypotonia seizure syndrome 2 (MCAHS2), indicating that even partial reduction of GPI anchored proteins dramatically impairs central nervous system development, but the mechanism is unclear...
2017: PloS One
https://www.readbyqxmd.com/read/28441140/teaching-trainees-how-to-critically-evaluate-the-literature-a-crossover-study-at-two-pediatric-residency-programs
#8
Benjamin Nelson, Catherine Ingard, David Nelson
Objectives: The purpose of this study was to assess the efficacy of a concise, evidence based medicine curriculum in improving the knowledge of pediatric residents at two institutions. Methods: Sixty first and second year pediatric residents at MassGeneral Hospital for Children and MedStar Georgetown University Hospital participated in a crossover study. The evidence based medicine curriculum, consisting of 4 ninety minute sessions grounded in adult learning theory principles, was developed using the methodology described in the book 'Studying a Study'...
April 24, 2017: International Journal of Medical Education
https://www.readbyqxmd.com/read/28441070/the-thr300ala-variant-of-atg16l1-is-associated-with-decreased-risk-of-brain-metastasis-in-patients-with-non-small-cell-lung-cancer
#9
Qian-Xia Li, Xiao Zhou, Ting-Ting Huang, Yang Tang, Bo Liu, Ping Peng, Li Sun, Yi-Hua Wang, Xiang-Lin Yuan
Non-small cell lung cancer (NSCLC) often metastasizes to the brain, but identifying which patients will develop brain metastases (BM) is difficult. Macroautophagy/autophagy is critical for cancer initiation and progression. We hypothesized that genetic variants of autophagy-related genes may affect brain metastases (BM) in NSCLC patients. We genotyped 16 single nucleotide polymorphisms (SNPs) in 7 autophagy-related (ATG) genes (ATG3, ATG5, ATG7, ATG10, ATG12, ATG16L1, and MAP1LC3/LC3) by using DNA from blood samples of 323 NSCLC patients...
April 25, 2017: Autophagy
https://www.readbyqxmd.com/read/28440912/performance-of-in-silico-tools-for-the-evaluation-of-p16ink4a-cdkn2a-variants-in-cagi
#10
Marco Carraro, Giovanni Minervini, Manuel Giollo, Yana Bromberg, Emidio Capriotti, Rita Casadio, Roland Dunbrack, Lisa Elefanti, Pietro Fariselli, Carlo Ferrari, Julian Gough, Panagiotis Katsonis, Emanuela Leonardi, Olivier Lichtarge, Chiara Menin, Pier Luigi Martelli, Abhishek Niroula, Lipika R Pal, Susanna Repo, Maria Chiara Scaini, Mauno Vihinen, Qiong Wei, Qifang Xu, Yuedong Yang, Yizhou Yin, Jan Zaucha, Huiying Zhao, Yaoqi Zhou, Steven E Brenner, John Moult, Silvio C E Tosatto
Correct phenotypic interpretation of variants of unknown significance for cancer-associated genes is a diagnostic challenge as genetic screenings gain in popularity in the next-generation sequencing era. The Critical Assessment of Genome Interpretation (CAGI) experiment aims to test and define the state of the art of genotype-phenotype interpretation. Here, we present the assessment of the CAGI p16INK4a challenge. Participants were asked to predict the effect on cellular proliferation of ten variants for the p16INK4a tumor suppressor, a cyclin-dependent kinase inhibitor encoded by the CDKN2A gene...
April 25, 2017: Human Mutation
https://www.readbyqxmd.com/read/28440743/targeting-underlying-biologic-mechanisms-in-selecting-adjunctive-therapies-to-improve-periodontal-treatment-in-smokers-a-commentary
#11
Maria L Geisinger, Nicolaas C Geurs, Dorothy Ogdon, Michael S Reddy
Despite well-established evidence that cigarette smoking is the largest modifiable risk factor for periodontal disease and has many deleterious health effects, the treatment of periodontal disease in smokers remains a challenge of periodontal therapy. A recent meta-analysis revealed that the adjunctive use of local delivery of antimicrobials, but not systemic antibiotic usage, with nonsurgical periodontal therapy resulted in an improvement in clinical periodontal parameters. Further evaluation of the current literature reveals that host modulation therapy may also result in a clinical benefit in smokers...
April 25, 2017: Journal of Periodontology
https://www.readbyqxmd.com/read/28440710/selenium-nanoparticles-potential-in-cancer-gene-and-drug-delivery
#12
Fiona Maiyo, Moganavelli Singh
In recent decades, colloidal selenium nanoparticles have emerged as exceptional selenium species with reported chemopreventative and therapeutic properties. This has sparked widespread interest in their use as a carrier of therapeutic agents with results displaying synergistic effects of selenium with its therapeutic cargo and improved anticancer activity. Functionalization remains a critical step in selenium nanoparticles' development for application in gene or drug delivery. In this review, we highlight recent developments in the synthesis and functionalization strategies of selenium nanoparticles used in cancer drug and gene delivery systems...
April 25, 2017: Nanomedicine
https://www.readbyqxmd.com/read/28440658/revealing-large-scale-homogeneity-and-trace-impurity-sensitivity-of-gaas-nanoscale-membranes
#13
Zhuo Yang, Alessandro Surrente, Gözde Tütüncüoglu, Krzysztof Galkowski, Melanie Cazaban-Carrazé, Francesca Amaduzzi, Pierre Leroux, Duncan K Maude, Anna Fontcuberta I Morral, Paulina Plochocka
III-V nanostructures have the potential to revolutionize optoelectronics and energy harvesting. For this to become a reality, critical issues such as reproducibility and sensitivity to defects should be resolved. By discussing the optical properties of MBE grown GaAs nanomembranes we highlight several features that bring them closer to large scale applications. Uncapped membranes exhibit a very high optical quality, expressed by extremely narrow neutral exciton emission, allowing the resolution of the more complex excitonic structure for the first time...
April 25, 2017: Nano Letters
https://www.readbyqxmd.com/read/28440628/edaphic-conditions-regulate-denitrification-directly-and-indirectly-by-altering-denitrifier-abundance-in-wetlands-along-the-han-river-china
#14
Ziqian Xiong, Laodong Guo, Quanfa Zhang, Guihua Liu, Wenzhi Liu
Riparian wetlands play a critical role in retaining nitrogen (N) from upland runoff and improving river water quality, mainly through biological processes such as soil denitrification. However, the relative contribution of abiotic and biotic factors to riparian denitrification capacity remains elusive. Here we report the spatio-temporal dynamics of potential and unamended soil denitrification rates in 20 wetlands along the Han River, an important water source in central China. We also quantified the abundance of soil denitrifying microorganisms using nirK and nirS genes...
April 25, 2017: Environmental Science & Technology
https://www.readbyqxmd.com/read/28440625/antischistosomal-activity-of-pyrido-1-2-a-benzimidazole-derivatives-and-correlation-with-inhibition-of-%C3%AE-haematin-formation
#15
John Okombo, Kawaljit Singh, Godfrey Mayoka, Ferdinand Ndubi, Linley Barnard, Peter M Njogu, Mathew Njoroge, Liezl Gibhard, Christel Brunschwig, Mireille Vargas, Jennifer Keiser, Timothy J Egan, Kelly Chibale
The extensive use of praziquantel against schistosomiasis raises concerns about drug resistance. New therapeutic alternatives targeting critical pathways within the parasite are therefore urgently needed. Haemozoin formation in Schistosoma presents one such target. We assessed in vitro antischistosomal activity of pyrido[1,2-a]benzimidazoles (PBIs), and investigated correlations with their ability to inhibit β-haematin formation. We further evaluated the in vivo efficacy of representative compounds in experimental mice and conducted pharmacokinetic analysis on the most potent...
April 25, 2017: ACS Infectious Diseases
https://www.readbyqxmd.com/read/28440604/a-proposed-novel-framework-for-monitoring-and-evaluation-of-the-cascade-of-hiv-associated-tb-care-at-the-health-facility-level
#16
Colleen F Hanrahan, Annelies Van Rie
INTRODUCTION: The rapid and accurate diagnosis of HIV-associated tuberculosis (TB), timely initiation of curative or preventative treatment and assurance of favourable treatment outcomes is a complex process. The current system of monitoring and reporting TB diagnosis and treatment does not include several key aspects of the care cascade, and may obscure systematic bottlenecks, inefficiencies or sources of sub-optimal care. METHODS: We critically reviewed the current World Health Organizations recommended system of monitoring and reporting, and identified the following key deficiencies that could limit the ability of healthcare workers to identify structural problems in the provision of TB/HIV care...
April 20, 2017: Journal of the International AIDS Society
https://www.readbyqxmd.com/read/28440570/mass-spectrometric-characterization-of-the-selective-androgen-receptor-modulator-sarm-yk-11-for-doping-control-purposes
#17
Mario Thevis, Thomas Piper, Josef Dib, Andreas Lagojda, Dirk Kuehne, Lars Packschies, Hans Geyer, Wilhelm Schaenzer
RATIONALE: Selective androgen receptor modulators (SARMs) represent an emerging class of therapeutics targeting inter alia conditions referred to as cachexia and sarcopenia. Due to their anabolic properties, the use of SARMs is prohibited in sports as regulated by the World Anti-Doping Agency (WADA), and doping control laboratories test for these anabolic agents in blood and urine. In order to accomplish and maintain comprehensive test methods, the characterization of new drug candidates is critical for efficient sports drug testing...
April 25, 2017: Rapid Communications in Mass Spectrometry: RCM
https://www.readbyqxmd.com/read/28440514/silibinin-downregulates-mmp2-expression-via-jak2-stat3-pathway-and-inhibits-the-migration-and-invasive-potential-in-mda-mb-231-cells
#18
Hyo Joo Byun, Pramod Darvin, Dong Young Kang, Nipin Sp, Youn Hee Joung, Jong Hwan Park, Sun Jin Kim, Young Mok Yang
Worldwide, breast cancer (BCa) is the most common cancer in women. Among its subtypes, triple-negative breast cancer (TNBC) is an aggressive form associated with diminished survival. TNBCs are characterized by their absence, or minimal expression, of the estrogen and progesterone receptors, as well as the human epidermal growth factor receptor 2 (i.e. ER-/-, PR-/-, Her2-/Low). Consequently, treatment for this subtype of BCa remains problematic. Silibinin, a derivative of the flavonoid silymarin, is reported to have anticancer activities against hepatic and non-small cell lung cancers...
April 19, 2017: Oncology Reports
https://www.readbyqxmd.com/read/28440496/pu-1-serves-a-critical-role-in-the-innate-defense-against-aspergillus%C3%A2-fumigatus-via-dendritic-cell-associated-c-type-lectin-receptor-1-and-toll-like-receptors-2-and-4-in-thp-1-derived-macrophages
#19
Chenyang Liu, Min Wang, Wenkui Sun, Feng Cai, Shen Geng, Xin Su, Yi Shi
Aspergillus fumigatus (A. fumigatus) is one of the most common fungal pathogens of invasive pulmonary aspergillosis (IPA), which may be life threatening in immunocompromised individuals. The dendritic cell-associated C-type lectin receptor (Dectin-1), toll‑like receptor (TLR)-2 and TLR-4 are major pattern recognition receptors in alveolar macrophages that recognize A. fumigatus components. The PU.1 transcription factor is known to be important for the transcriptional control of these three receptors in mature macrophages...
April 24, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28440493/the-extracellular-signal-regulated-kinase-1-2-pathway-in-neurological-diseases-a-potential-therapeutic-target-review
#20
Jing Sun, Guangxian Nan
Signaling pathways are critical modulators of a variety of physiological and pathological processes, and the abnormal activation of some signaling pathways can contribute to disease progression in various conditions. As a result, signaling pathways have emerged as an important tool through which the occurrence and development of diseases can be studied, which may then lead to the development of novel drugs. Accumulating evidence supports a key role for extracellular signal-regulated kinase 1/2 (ERK1/2) signaling in the embryonic development of the central nervous system (CNS) and in the regulation of adult brain function...
April 21, 2017: International Journal of Molecular Medicine
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