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https://www.readbyqxmd.com/read/28345844/association-between-the-dna-repair-gene-xrcc3-rs861539-polymorphism-and-risk-of-osteosarcoma-a-systematic-review-and-meta-analysis
#1
Mohammad Reza Sobhan, Mohammad Forat Yazdi, Mahta Mazaheri, Masoud Zare Shehneh, Hossein Neamatzadeh
Objective: Although there are a few studies investigating the relation between X-Ray Repair Cross Complementing 3 (XRCC3) gene rs861539 polymorphism and osteosarcoma (OSA), the results are inconsistent. Therefore, we performed this systematic review and meta-analysis to clarify the associations between XRCC3 rs861539 polymorphism and OSA risk. Methods: We have retrieved published literature from PubMed, Google scholar, and ISI Web of Knowledge up to 25 January 2017. Odds ratios were pooled using either fixed-effects or random effects models...
February 1, 2017: Asian Pacific Journal of Cancer Prevention: APJCP
https://www.readbyqxmd.com/read/28345783/natural-tolerance-development-in-cow-s-milk-allergic-children-ige-and-igg4-epitope-binding
#2
Jean Christoph Caubet, Jing Lin, Birgit Ahrens, Gustavo Gimenez, Luda Bardina, Bodo Niggemann, Hugh A Sampson, Kirsten Beyer
BACKGROUND: Although most of cow's milk (CM) allergic children will outgrow their allergy, the pathomechanism of the natural development of tolerance remains poorly understood. It has been suggested that the balance between milk specific IgE and IgG4 plays a major role. OBJECTIVE: We aimed to investigate differences in IgE and IgG4 antibody binding to cow's milk (CM) epitopes between patients with persistent CM allergy (CMA) and those that naturally became tolerant...
March 27, 2017: Allergy
https://www.readbyqxmd.com/read/28343843/%C3%AE-s1-casein-elucidate-major-t-cell-responses-in-cow-s-milk-allergy
#3
L Diego Archila, Fatima S Khan, Nupur Bhatnagar, David Robinson, Mary L Farrington, William W Kwok
Cow's milk allergy (CMA) is increasing in prevalence, affecting approximately 4% of children. Cow's milk (CM) is a common cause of fatal/ near fatal anaphylactic reactions. Understanding of CM-specific CD4+ T-cells responses to milk allergens should help elucidate the pathological mechanisms of persistent CMA. Milk allergen epitopes specific T-cells were examined in CMA subjects. Frequencies and phenotypes of these T-cells were found to be different between older and younger subjects.
March 23, 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28342698/targeted-exome-sequencing-and-chromosomal-microarray-for-the-molecular-diagnosis-of-nevoid-basal-cell-carcinoma-syndrome
#4
Yoshihiro Matsudate, Takuya Naruto, Yumiko Hayashi, Mitsuyoshi Minami, Mikiko Tohyama, Kenji Yokota, Daisuke Yamada, Issei Imoto, Yoshiaki Kubo
BACKGROUND: Nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant disorder mainly caused by heterozygous mutations of PTCH1. In addition to characteristic clinical features, detection of a mutation in causative genes is reliable for the diagnosis of NBCCS; however, no mutations have been identified in some patients using conventional methods. OBJECTIVE: To improve the method for the molecular diagnosis of NBCCS. METHODS: We performed targeted exome sequencing (TES) analysis using a multi-gene panel, including PTCH1, PTCH2, SUFU, and other sonic hedgehog signaling pathway-related genes, based on next-generation sequencing (NGS) technology in 8 cases in whom possible causative mutations were not detected by previously performed conventional analysis and 2 recent cases of NBCCS...
March 11, 2017: Journal of Dermatological Science
https://www.readbyqxmd.com/read/28340467/the-clinical-use-of-chromosomal-microarray-analysis-in-detection-of-fetal-chromosomal-rearrangements-a-study-from-china-mainland
#5
Yi Wu, Yanlin Wang, Jiong Tao, Xu Han, Xinrong Zhao, Chunmin Liu, Li Gao, Weiwei Cheng
OBJECTIVES: This study aimed to evaluate the detection rate of chromosomal microarray analysis (CMA) in prenatal fetuses compared with conventional karyotype and to assess the additional diagnostic yields of CMA in groups of different indications. STUDY DESIGN: A total of 217 fetuses were divided into seven groups according to different indications. All cases were tested by both CMA and karyotype. The detection rates of CMA and karyotype were evaluated. The increased value of CMA in each group was also calculated...
March 7, 2017: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://www.readbyqxmd.com/read/28336264/genomic-imbalances-in-syndromic-congenital-heart-disease
#6
Miriam C Molck, Milena Simioni, Társis P Vieira, Ilária C Sgardioli, Fabíola P Monteiro, Josiane Souza, Agnes C Fett-Conte, Têmis M Félix, Isabella L Monlléo, Vera Lúcia Gil-da-Silva-Lopes
OBJECTIVE: To identify pathogenic genomic imbalances in patients presenting congenital heart disease (CHD) with extra cardiac anomalies and exclusion of 22q11.2 deletion syndrome (22q11.2 DS). METHODS: 78 patients negative for the 22q11.2 deletion, previously screened by fluorescence in situ hybridization (FISH) and/or multiplex ligation probe amplification (MLPA) were tested by chromosomal microarray analysis (CMA). RESULTS: Clinically significant copy number variations (CNVs ≥300kb) were identified in 10% (8/78) of cases...
March 20, 2017: Jornal de Pediatria
https://www.readbyqxmd.com/read/28327471/motion-compensation-in-extremity-cone-beam-ct-using-a-penalized-image-sharpness-criterion
#7
Alejandro Sisniega, Joseph Stayman, John Yorkston, Jeffrey Siewerdsen, Wojciech Zbijewski
Cone-beam CT (CBCT) for musculoskeletal imaging would benefit from a method to reduce the effects of involuntary patient motion. In particular, the continuing improvement in spatial resolution of CBCT may enable tasks such as quantitative assessment of bone microarchitecture (0.1 mm - 0.2 mm detail size), where even subtle, sub-mm motion blur might be detrimental. We propose a purely image based motion compensation method that requires no fiducials, tracking hardware or prior images. A statistical optimization algorithm (CMA-ES) is used to estimate a motion trajectory that optimizes an objective function consisting of an image sharpness criterion augmented by a regularization term that encourages smooth motion trajectories...
March 22, 2017: Physics in Medicine and Biology
https://www.readbyqxmd.com/read/28326466/a-cost-minimisation-analysis-comparing-sublingual-immunotherapy-to-subcutaneous-immunotherapy-for-the-treatment-of-house-dust-mite-allergy-in-a-swedish-setting
#8
Åse Björstad, Lars-Olaf Cardell, Julie Hahn-Pedersen, Mikael Svärd
BACKGROUND AND OBJECTIVES: In Sweden, approximately 6% of children and 10% of adults suffer from house dust mite (HDM) allergy with symptoms of allergic rhinitis and allergic asthma. Treatment is aimed at reducing HDM exposure and to control the symptoms of allergic rhinitis and allergic asthma by symptom-relieving pharmacotherapy. This pharmacotherapy is often effective, but some patients remain inadequately controlled. For these patients, allergy immunotherapy (AIT, subcutaneous or sublingual) with repeated administration of HDM allergen should be considered...
March 22, 2017: Clinical Drug Investigation
https://www.readbyqxmd.com/read/28315673/chromosomal-microarray-detection-of-constitutional-copy-number-variation-using-saliva-dna
#9
Jennifer Reiner, Lisa Karger, Ninette Cohen, Lakshmi Mehta, Lisa Edelmann, Stuart A Scott
Chromosomal microarray (CMA) testing to detect copy number aberrations among individuals with multiple congenital anomalies and/or developmental delay is typically performed on peripheral blood DNA. However, the use of saliva DNA may be preferred for some patients, which prompted our validation study using six saliva DNA samples with a range of bacterial content (approximately 3% to 21%) and 20 paired blood and saliva specimens on the Agilent Technologies, Illumina, and Affymetrix CMA platforms. Ten of the 20 paired specimens were previously determined to carry clinically significant copy number aberrations by clinical CMA testing on blood DNA (100 kb to 2...
March 15, 2017: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/28296597/acetylation-targets-hsd17b4-for-degradation-via-the-cma-pathway-in-response-to-estrone
#10
Ye Zhang, Ying-Ying Xu, Chuan-Bo Yao, Jin-Tao Li, Xiang-Ning Zhao, Hong-Bin Yang, Min Zhang, Miao Yin, Jing Chen, Qun-Ying Lei
Dysregulation of hormone metabolism is implicated in human breast cancer. 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) catalyzes the conversion of estradiol (E2) to estrone (E1), and is associated with the pathogenesis and development of various cancers. Here we show that E1 upregulates HSD17B4 acetylation at lysine 669 (K669) and thereby promotes HSD17B4 degradation via chaperone-mediated autophagy (CMA), while a single mutation at K669 reverses the degradation and confers migratory and invasive properties to MCF7 cells upon E1 treatment...
March 4, 2017: Autophagy
https://www.readbyqxmd.com/read/28293923/infant-formulas-containing-hydrolysed-protein-for-prevention-of-allergic-disease-and-food-allergy
#11
REVIEW
David A Osborn, John Kh Sinn, Lisa J Jones
BACKGROUND: Allergy is common and may be associated with foods, including cow's milk formula (CMF). Formulas containing hydrolysed proteins have been used to treat infants with allergy. However, it is unclear whether hydrolysed formulas can be advocated for prevention of allergy in infants. OBJECTIVES: To compare effects on allergy and food allergy when infants are fed a hydrolysed formula versus CMF or human breast milk. If hydrolysed formulas are effective, to determine what type of hydrolysed formula is most effective, including extensively or partially hydrolysed formula (EHF/PHF)...
March 15, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28287252/efficient-fabrication-of-photosensitive-polymeric-nano-objects-via-an-ingenious-formulation-of-raft-dispersion-polymerization-and-their-application-for-drug-delivery
#12
Wen-Jian Zhang, Chun-Yan Hong, Cai-Yuan Pan
An ingenious formulation of RAFT dispersion polymerization based on photosensitive monomers of 2-nitrobenzyl methacrylate (NBMA) and 7-(2-methacryloyloxy-ethoxy)-4-methyl-coumarin (CMA) is reported herein. Various morphologies, such as spherical micelle, nanoworm, lamella, and vesicle, are fabricated at up to 20% solids content. Photoinduced cleavage of the NBMA moieties and dimerization of the coumarin moieties are simultaneously triggered upon UV (365 nm) irradiation. The former endows the cores of the nano-objects with abundant carboxyl groups, resulting in the transformation of the hydrophobic cores to hydrophilic ones...
March 13, 2017: Biomacromolecules
https://www.readbyqxmd.com/read/28270404/pbx1-haploinsufficiency-leads-to-syndromic-congenital-anomalies-of-the-kidney-and-urinary-tract-cakut-in-humans
#13
Pauline Le Tanno, Julie Breton, Marie Bidart, Véronique Satre, Radu Harbuz, Pierre F Ray, Caroline Bosson, Klaus Dieterich, Sylvie Jaillard, Sylvie Odent, Gemma Poke, Rachel Beddow, Maria Christina Digilio, Antonio Novelli, Laura Bernardini, Maria Antonietta Pisanti, Luisa Mackenroth, Karl Hackmann, Ida Vogel, Rikke Christensen, Siv Fokstuen, Frédérique Béna, Florence Amblard, Francoise Devillard, Gaelle Vieville, Alexia Apostolou, Pierre-Simon Jouk, Fitsum Guebre-Egziabher, Hervé Sartelet, Charles Coutton
BACKGROUND: Congenital anomalies of the kidney and urinary tract (CAKUT) represent a significant healthcare burden since it is the primary cause of chronic kidney in children. CNVs represent a recurrent molecular cause of CAKUT but the culprit gene remains often elusive. Our study aimed to define the gene responsible for CAKUT in patients with an 1q23.3q24.1 microdeletion. METHODS: We describe eight patients presenting with CAKUT carrying an 1q23.3q24.1 microdeletion as identified by chromosomal microarray analysis (CMA)...
March 7, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28257594/ezetimibe-for-the-treatment-of-nonalcoholic-fatty-liver-disease-a-meta-analysis
#14
Yukiomi Nakade, Kenta Murotani, Tadahisa Inoue, Yuji Kobayashi, Takaya Yamamoto, Norimitsu Ishii, Tomohiko Ohashi, Kiyoaki Ito, Yoshitaka Fukuzawa, Masashi Yoneda
AIM: Several studies on the efficacy of ezetimibe, a potent inhibitor of cholesterol absorption, in treating non-alcoholic fatty liver disease (NAFLD) and non-alcoholic steatohepatitis (NASH) have been conducted; however, the results are inconsistent. We conducted a meta-analysis to evaluate the efficacy of ezetimibe in treating NAFLD and NASH. METHODS: Pubmed, Medline, and Cochrane Library Full Text Database were searched until June 2016. The main inclusion criteria included original studies investigating the use of ezetimibe for the treatment of NAFLD and NASH...
March 3, 2017: Hepatology Research: the Official Journal of the Japan Society of Hepatology
https://www.readbyqxmd.com/read/28254682/hollow-porous-molecularly-imprinted-polymers-for-rapid-and-selective-extraction-of-cinnamic-acid-from-juices
#15
Haiyan Xiang, Dengxin Fan, Huan Li, Shuyun Shi
Rapid and selective extraction of target compounds from complex matrices was significantly important for their quantification. Here, hollow porous molecular imprinted polymers (HPMIPs) were prepared using cinnamic acid (CMA) as template, 4-vinylpyridine (4-VP) as functional monomer, and MCM-48 as sacrificial support. Hollow porous structure with large surface area (534.1m(2)/g) made most recognition sites locate on the surface of HPMIPs, resulting in high binding capacity (14.84mg/g) and fast kinetic binding (40min)...
April 1, 2017: Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences
https://www.readbyqxmd.com/read/28238968/changes-in-macroautophagy-chaperone-mediated-autophagy-and-mitochondrial-metabolism-in-murine-skeletal-and-cardiac-muscle-during-aging
#16
Jin Zhou, Shu Yun Chong, Andrea Lim, Brijesh K Singh, Rohit A Sinha, Adam B Salmon, Paul M Yen
Aging causes a general decline in cellular metabolic activity, and function in different tissues and whole body homeostasis. However, the understanding about the metabolomic and autophagy changes in skeletal muscle and heart during aging is still limited. We thus examined markers for macroautophagy, chaperone-mediated autophagy (CMA), mitochondrial quality control, as well as cellular metabolites in skeletal and cardiac muscle from young (5 months old) and aged (27 months old) mice. We found decreased autophagic degradation of p62 and increased ubiquitinated proteins in both tissues from aged mice, suggesting a decline in macroautophagy during aging...
February 26, 2017: Aging
https://www.readbyqxmd.com/read/28237106/methods-to-study-chaperone-mediated-autophagy
#17
E Arias
Chaperone-mediated autophagy (CMA), a selective form of degradation of cytosolic proteins in lysosomes, contributes to maintenance of proteostasis and to the cellular adaptation to stress. CMA substrates are selectively recognized and delivered by a cytosolic chaperone to the lysosomal surface, where, upon unfolding, they are internalized through a membrane translocation complex. Defective or dysfunctional CMA has been associated with human pathologies such as neurodegeneration, cancer, immunodeficiency, or diabetes, increasing the overall interest in methods to monitor this selective autophagic pathway...
2017: Methods in Enzymology
https://www.readbyqxmd.com/read/28229350/-set-in-stone-or-ray-of-hope-parents-beliefs-about-cause-and-prognosis-after-genomic-testing-of-children-diagnosed-with-asd
#18
Marian Reiff, Eva Bugos, Ellen Giarelli, Barbara A Bernhardt, Nancy B Spinner, Pamela L Sankar, Surabhi Mulchandani
Despite increasing utilization of chromosomal microarray analysis (CMA) for autism spectrum disorders (ASD), limited information exists about how results influence parents' beliefs about etiology and prognosis. We conducted in-depth interviews and surveys with 57 parents of children with ASD who received CMA results categorized as pathogenic, negative or variant of uncertain significance. Parents tended to incorporate their child's CMA results within their existing beliefs about the etiology of ASD, regardless of CMA result...
February 22, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28215395/microarrays-in-prenatal-diagnosis
#19
REVIEW
Beatrice Oneda, Anita Rauch
In prenatal diagnosis, chromosomal microarray (CMA) has not yet fully replaced conventional karyotyping but has rapidly become the recommended test in pregnancies with ultrasound abnormalities. In this review, we provide an overview of the published data concerning this technology and the controversies concerning its use in the prenatal setting. There is abundant evidence indicating the added detection of pathogenic abnormalities with CMA in comparison to the traditional karyotyping, especially in fetuses with multiple or isolated ultrasound abnormalities such as congenital heart disease, increased nuchal translucency, or oral cleft...
January 23, 2017: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28203141/evolutionary-algorithm-based-feature-optimization-for-multi-channel-eeg-classification
#20
Yubo Wang, Kalyana C Veluvolu
The most BCI systems that rely on EEG signals employ Fourier based methods for time-frequency decomposition for feature extraction. The band-limited multiple Fourier linear combiner is well-suited for such band-limited signals due to its real-time applicability. Despite the improved performance of these techniques in two channel settings, its application in multiple-channel EEG is not straightforward and challenging. As more channels are available, a spatial filter will be required to eliminate the noise and preserve the required useful information...
2017: Frontiers in Neuroscience
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