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https://www.readbyqxmd.com/read/28215395/microarrays-in-prenatal-diagnosis
#1
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
#2
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
https://www.readbyqxmd.com/read/28191006/capability-of-neutrophils-to-form-nets-is-not-directly-influenced-by-a-cma-targeting-peptide
#3
Christian Maueröder, Nicolas Schall, Frédéric Meyer, Aparna Mahajan, Benjamin Garnier, Jonas Hahn, Deborah Kienhöfer, Markus H Hoffmann, Sylviane Muller
During inflammatory reaction, neutrophils exhibit numerous cellular and immunological functions, notably the formation of neutrophil extracellular traps (NETs) and autophagy. NETs are composed of decondensed chromatin fibers coated with various antimicrobial molecules derived from neutrophil granules. NETs participate in antimicrobial defense and can also display detrimental roles and notably trigger some of the immune features of systemic lupus erythematosus (SLE) and other autoimmune diseases. Autophagy is a complex and finely regulated mechanism involved in the cell survival/death balance that may be connected to NET formation...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28187131/genome-size-cytogenetic-data-and-transferability-of-est-ssrs-markers-in-wild-and-cultivated-species-of-the-genus-theobroma-l-byttnerioideae-malvaceae
#4
Rangeline Azevedo da Silva, Gustavo Souza, Lívia Santos Lima Lemos, Uilson Vanderlei Lopes, Nara Geórgia Ribeiro Braz Patrocínio, Rafael Moysés Alves, Lucília Helena Marcellino, Didier Clement, Fabienne Micheli, Karina Peres Gramacho
The genus Theobroma comprises several trees species native to the Amazon. Theobroma cacao L. plays a key economic role mainly in the chocolate industry. Both cultivated and wild forms are described within the genus. Variations in genome size and chromosome number have been used for prediction purposes including the frequency of interspecific hybridization or inference about evolutionary relationships. In this study, the nuclear DNA content, karyotype and genetic diversity using functional microsatellites (EST-SSR) of seven Theobroma species were characterized...
2017: PloS One
https://www.readbyqxmd.com/read/28186598/-a-boy-with-meier-gorlin-syndrome-carrying-a-novel-orc6-mutation-and-uniparental-disomy-of-chromosome-16
#5
Juan Li, Yu Ding, Guoying Chang, Qing Cheng, Xin Li, Jian Wang, Xiumin Wang, Yiping Shen
OBJECTIVE: To identify the genetic cause for a 11-year-old Chinese boy with Meier-Gorlin syndrome (MGS). METHODS: Chromosomal microarray analysis (CMA) was used to detect potential variations, while whole exome sequencing (WES) was used to identify sequence variants. Sanger sequencing was used to confirm the suspected variants. RESULTS: The boy has featured short stature, microtia, small patella, slender body build, craniofacial anomalies, and small testes with normal gonadotropin...
February 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28186589/-clinical-and-molecular-cytogenetic-analysis-of-a-family-with-mental-retardation-caused-by-an-unbalanced-translocation-involving-chromosomes-3-and-22
#6
Kaihui Zhang, Rui Dong, Yan Huang, Yali Yang, Ying Wang, Haiyan Zhang, Yufeng Zhang, Yi Liu, Zhongtao Gai
OBJECTIVE: To explore the genetic cause of a Chinese boy with unexplained mental retardation, and analyze the pattern of inheritance for his family. METHODS: Routine karyotyping, chromosomal microarray analysis (CMA), and fluorescence in situ hybridization (FISH) were used to detect chromosome abnormalities in the patient and his families. RESULTS: Chromosome analysis suggested that the proband and 7 affected individuals had an identical karyotype 46,XN,der(22)t(3;22)(q28;q13)pat, while his father and 5 other relatives carried a same karyotype of 46,XN,t(3;22)(q28;q13)...
February 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28186583/-combined-g-banded-karyotyping-and-multiplex-ligation-dependent-probe-amplification-for-the-detection-of-chromosomal-abnormalities-in-fetuses-with-congenital-heart-defects
#7
Yang Liu, Jiansheng Xie, Qian Geng, Zhiyong Xu, Weiqin Wu, Fuwei Luo, Suli Li, Qin Wang, Wubin Chen, Hongxi Tan, Hu Zhang
OBJECTIVE: To assess the value of G-banded karyotyping in combination with multiplex ligation-dependent probe amplification (MLPA) as a tool for the detection of chromosomal abnormalities in fetuses with congenital heart defects. METHODS: The combined method was used to analyze 104 fetuses with heart malformations identified by ultrasonography. Abnormal findings were confirmed with chromosomal microarray analysis (CMA). RESULTS: Nineteen (18%) fetuses were found to harbor chromosomal aberrations by G-banded karyotyping and MLPA...
February 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28185113/monte-carlo-studies-of-two-dimensional-polymer-solvent-systems
#8
Piotr Polanowski, Jeremiasz K Jeszka, Andrzej Sikorski
The static properties of two-dimensional athermal polymer solutions were studied by performing Monte Carlo lattice simulations using the cooperative motion algorithm (CMA) and taking into account the presence of explicit solvent molecules. The simulations were performed for a wide range of polymer chain lengths N (16-1024) and concentrations φ (0.0156-1). The results obtained for short chains (N < 256) were in good agreement with those given by previous simulations. For the longest chains (512 or 1024 beads), some unexpected behavior was observed in the dilute and semidilute regimes...
February 2017: Journal of Molecular Modeling
https://www.readbyqxmd.com/read/28180026/chromosomal-microarrays-understanding-genetics-of-neurodevelopmental-disorders-and-congenital-anomalies
#9
REVIEW
Jill A Rosenfeld, Ankita Patel
Chromosomal microarray (CMA) testing, used to identify DNA copy number variations (CNVs), has helped advance knowledge about genetics of human neurodevelopmental disease and congenital anomalies. It has aided in discovering new CNV syndromes and uncovering disease genes. It has discovered CNVs that are not fully penetrant and/or cause a spectrum of phenotypes, including intellectual disability, autism, schizophrenia, and dysmorphisms. Such CNVs can pose challenges to genetic counseling. They also have helped increase knowledge of genetic risk factors for neurodevelopmental disease and raised awareness of possible shared etiologies among these variable phenotypes...
March 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/28165153/fetal-right-aortic-arch-associated-anomalies-genetic-anomalies-with-chromosomal-microarray-analysis-and-postnatal-outcome
#10
Ruan Peng, Hong-Ning Xie, Ju Zheng, Yi Zhou, Mei-Fang Lin
OBJECTIVES: To assess the associated prenatal findings, genetic anomalies with chromosomal microarray analysis (CMA) and postnatal outcome of fetal right aortic arch (RAA). METHODS: This retrospective study reviewed 92 fetuses diagnosed with RAA and the findings of CMA using Affymetrix CytoScan HD array in our institution between 2013 and 2016. RESULTS: Postnatal data were not available for six cases and genetic data were not available for 26 cases...
February 6, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28160714/estimation-of-the-critical-quality-attributes-for-hydroxypropyl-methylcellulose-with-near-infrared-spectroscopy-and-chemometrics
#11
Qingli Guo, Lei Nie, Lian Li, Hengchang Zang
With the implementation of quality by design (QbD), critical attributes of raw material (drug substance and excipients) are of significantly importance in pharmaceutical manufacturing process. It is desirable for the quality control of critical material attributes (CMAs) of excipients to ensure the quality of end product. This paper explored the feasibility of an at-line method for the quantitative analysis of hydroxypropoxy group in hydroxypropyl methylcellulose (HPMC) with near infrared spectroscopy (NIRS)...
January 5, 2017: Spectrochimica Acta. Part A, Molecular and Biomolecular Spectroscopy
https://www.readbyqxmd.com/read/28159431/cost-effectiveness-of-ambulatory-blood-pressure-monitoring-in-the-management-of-hypertension
#12
Diogo Costa, Ricardo Peixoto Lima
INTRODUCTION AND OBJECTIVES: The prevalence of hypertension in Portugal is between 29.1% and 42.2%. International studies show that 13% of individuals have masked hypertension and 13% of diagnoses based on office blood pressure measurements are in fact white coat hypertension. More sensitive and specific blood pressure measuring methods could avoid costs associated with misdiagnosis. The aim of this study was to review the cost-effectiveness of ambulatory blood pressure monitoring (ABPM) compared to other methods in the management of hypertension...
February 2017: Portuguese Journal of Cardiology: An Official Journal of the Portuguese Society of Cardiology
https://www.readbyqxmd.com/read/28159383/baked-milk-tolerant-patient-is-there-any-special-feature
#13
C P G Barbosa, A P M Castro, G H Yonamine, A K F Gushken, C M L Beck, P R C Macedo, M B Dorna, C J N Santos, A C Pastorino, C M A Jacob
BACKGROUND: Determining whether patients with cow's milk allergy (CMA) can tolerate foods produced with baked milk could provide a better quality of life, a better prognosis, and an option for desensitization. OBJECTIVES: The aim of this study was to identify which patients over four years of age with persistent CMA could tolerate baked milk, to compare the clinical and laboratory characteristics of reactive and non-reactive groups and to describe their clinical evolution...
February 1, 2017: Allergologia et Immunopathologia
https://www.readbyqxmd.com/read/28153737/autophagy-an-overview-and-its-roles-in-cancer-and-obesity
#14
REVIEW
Joe Antony Jacob, Jumah Masoud Mohammad Salmani, Ziyu Jiang, Liang Feng, Jie Song, Xiaobin Jia, Baoan Chen
Autophagy is a normal physiological process necessary for cellular homeostasis to maintain adequate levels of cellular components. It is essential to stabilize the source of energy during development and nutritional stress and plays the dual role of survival or cell killing in various diseases including cancer. The selectivity of the response to removal of selected organelles may vary according to the each type. Macroautophagy forms a double-membraned autophagosome around the organelle destined for processing...
January 30, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/28152831/is-there-a-relationship-between-self-reported-healthy-days-and-comorbidity-medication-adherence-among-oncology-patients
#15
Dana Drzayich Jankus, Sari Hopson, Raya Khoury, Aparna Parikh, Alisha Stein, Todd Michael, Stephen Stemkowski, Mikele Bunce
: 189 Background: Previous studies established the link between comorbidities and Health Related Quality of Life (HRQoL) for cancer patients. Adherence to comorbid medications has been found to be predictive of HRQoL in other disease states, but this has not been established for patients with cancer. This study sought to investigate the association between healthy days (HDs) and comorbidity medication adherence (CMA) for cancer patients. METHODS: A survey was mailed to 5,098 patients with metastatic breast, lung or colorectal cancer who received treatment in 2014 and had at least one comorbid condition...
March 2016: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/28150969/-do-grown-ups-become-happy-when-they-drink-alcohol-expectancies-among-preschoolers
#16
Emmanuel Kuntsche
Despite ample evidence on risky drinking in adolescence and beyond, little is known about early alcohol-related precursors. The present study investigates whether preschool children are already familiar with the emotional changes that are likely to occur when people drink alcohol, that is, their alcohol expectancies. Based on the circumplex model of affect (CMA; Russell, 1980), expectancies (12 items for alcohol and 12 for soft drinks) were assessed using the Berkeley Puppet Interview (BPI; Measelle, Ablow, Cowan, & Cowan, 1998) among 198 3- to 6-year-olds (52...
February 2017: Experimental and Clinical Psychopharmacology
https://www.readbyqxmd.com/read/28145028/effects-of-steroidal-antiandrogen-or-5-alpha-reductase-inhibitor-on-prostate-tissue-hormone-content
#17
Yasuhiro Shibata, Seiji Arai, Yoshiyuki Miyazawa, Takahiro Shuto, Masashi Nomura, Yoshitaka Sekine, Hidekazu Koike, Hiroshi Matsui, Kazuto Ito, Kazuhiro Suzuki
BACKGROUND: The effects of a steroidal antiandrogen (AA) and 5-alpha-reductase inhibitor (5ARI) on prostate tissue hormone content and metabolism are not fully elucidated. The objective of this study is to investigate the hormone content and metabolism of the prostate tissues of patients treated with AA or 5ARI using the ultra-sensitive liquid chromatography-tandem mass spectrometry (LC-MS/MS) method. METHODS: Thirty-nine patients with benign prostatic hyperplasia (BPH) undergoing transurethral surgery were included...
February 1, 2017: Prostate
https://www.readbyqxmd.com/read/28139969/a-meta-analysis-of-the-effect-of-cyp2d6-polymorphism-on-the-pharmacokinetics-and-pharmacodynamics-of-metoprolol%C3%A2
#18
Shuchun Li, Han Lin, WenHuan Sun, YingLi Wang, YouFang Ding, HuanHu Zhao, ShangJian Liu
OBJECTIVE: To conduct a meta-analysis on the effect of CYP2D6 polymorphism on the pharmacokinetics and pharmacodynamics of metoprolol. METHODS: A systematic review and meta-analysis of studies on the effect of CYP2D6 polymorphism on metoprolol pharmacokinetics and pharmacodynamics was performed by using the China national knowledge infrastructure (CNKI), database for Chinese technical periodicals (VIP), Wanfang, and PubMed databases up to the end of January 2015...
January 30, 2017: International Journal of Clinical Pharmacology and Therapeutics
https://www.readbyqxmd.com/read/28133835/the-cut-off-value-for-normal-nuchal-translucency-evaluated-by-chromosomal-microarray-analysis
#19
Idit Maya, Shiri Yacobson, Sarit Kahana, Josepha Yeshaya, Tamar Tenne, Ifaat Agmon-Fishman, Lital Cohen-Vig, Mordechai Shohat, Lina Basel-Vanagaite, Reuven Sharony
OBJECTIVES: An association between isolated, increased nuchal translucency thickness and pathogenic chromosomal microarray analysis (CMA) has been reported. A recent meta-analysis reported that most studies used a 3.5 mm cut-off value. Considering nuchal translucency distribution and the commonly accepted 5% false positive rate in maternal serum screening, nuchal translucency cut-off levels should be reconsidered. This study evaluated the unique contribution of CMA to the investigation of foetuses with mildly increased nuchal translucency (NT) thickness of 3...
January 30, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28128450/experiences-in-microarray-based-evaluation-of-developmental-disabilities-and-congenital-anomalies
#20
Berk Ozyilmaz, Ozgür Kirbiyik, Altug Koc, Taha Resid Ozdemir, Ozge Ozer Kaya, Merve Saka Guvenc, Kadri Murat Erdoğan, Yasar Bekir Kutbay
Chromosomal microarray analysis is the as first-tier test for the evaluation of developmental disabilities and congenital anomalies. In this report, we present CMA results of 971 patient and 301 parent samples. Among 971 patient samples, 133 (13,6%) had pathogenic variants. While analyzing, an "in-house" variant database was also used besides other databases. Owing to this, we have found chance to report the most frequent benign variants in Turkish population. With the additional data we acqured in this study, we also emphasized the high potential of CMA in revealing single gene disorders and novel gene-phenotype associations as well as copy number variations...
January 27, 2017: Clinical Genetics
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