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https://www.readbyqxmd.com/read/29327352/ultrasound-findings-provide-clues-to-investigate-founder-mutations-expressed-as-runs-of-homozygosity-in-chromosomal-microarray-studies
#1
Hagit Daum, Israela Lerer, Ayala Frumkin, Daniel Rosenak, Nili Yanai, Shay Porat, Simcha Yagel, Vardiella Meiner
OBJECTIVES: Chromosomal microarray (CMA) analysis is effectively applied prenatally to detect copy number changes. SNP probes included in the microarray platform can detect regions of excessive homozygosity (ROH) and identical-by-descent genomic stretches. The utility of the latter as part of prenatal diagnosis is not well established. Recessive founder mutations are well recognized within distinct ethnic groups. Combining these data with prenatal sonography provides accurate focused molecular diagnoses quickly...
January 11, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29320483/microarray-analysis-in-pregnancies-with-isolated-unilateral-kidney-agenesis
#2
Lena Sagi-Dain, Idit Maya, Peleg Amir, Reches Adi, Ehud Banne, Hagit N Baris, Tenne Tamar, Amihood Singer, Shay Ben-Shachar
OBJECTIVE: To examine the risk for submicroscopic chromosomal aberrations among fetuses with apparently isolated solitary kidney. METHODS: Data acquisition was performed retrospectively by searching Israeli Ministry of Health computerized database. All cases having chromosomal microarray analysis (CMA) referred due to an indication of isolated unilateral kidney agenesis between January 2013 and September 2016 were included. Rate of clinically significant CMA findings in these pregnancies was compared to pregnancies with normal ultrasound, based on a systematic review encompassing 9792 cases and local data of 5541 pregnancies undergoing CMA due to maternal request...
January 10, 2018: Pediatric Research
https://www.readbyqxmd.com/read/29315677/acog-and-smfm-guidelines-for-prenatal-diagnosis-is-karyotyping-really-sufficient
#3
Sara B Hay, Trilochan Sahoo, Mary K Travis, Karine Hovanes, Natasa Dzidic, Charles Doherty, Michelle N Strecker
OBJECTIVE: The American College of Obstetricians and Gynecologists (ACOG) and Society for Maternal-Fetal Medicine (SMFM) recommend chromosomal microarray analysis (CMA) for prenatal diagnosis in cases with one or more fetal structural abnormalities. For patients who elect prenatal diagnosis and have a structurally normal fetus, either microarray or karyotype is recommended. This study evaluates the frequency of clinically significant chromosomal abnormalities (CSCA) that would have been missed if all patients offered the choice between CMA and karyotyping chose karyotyping...
January 9, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29314279/cow-s-milk-allergic-children-can-component-resolved-diagnostics-predict-duration-and-severity
#4
Thomas Houmann Petersen, Charlotte Gotthard Mortz, Carsten Bindslev-Jensen, Esben Eller
BACKGROUND: Cow's Milk Allergy (CMA) affects 2% of all children. This study investigates CRD to cow's milk proteins in children suspected for CMA, by correlating the level of CRD with outcome of the oral challenge. Furthermore, we evaluate the ability of serial CRD measurements to distinguish children with persistent CMA from children developing tolerance. METHODS: We included data from 78 children referred to the Allergy Centre during a 13 years period. Results from oral food challenges including threshold, severity and sensitization data (IgE antibodies to whole milk protein, IgE components towards milk and skin prick test (SPT)) were collected...
January 4, 2018: Pediatric Allergy and Immunology
https://www.readbyqxmd.com/read/29313671/cluster-formation-in-the-superconducting-complex-intermetallic-compound-be21pt5
#5
Alfred Amon, Alim Ormeci, Matej Bobnar, Lev G Akselrud, Maxim Avdeev, Roman Gumeniuk, Ulrich Burkhardt, Yurii Prots, Christoph Hennig, Andreas Leithe-Jasper, Yuri Grin
Materials with the crystal structure of γ-brass type (Cu5Zn8 type) are typical representatives of intermetallic compounds. From the electronic point of view, they are often interpreted using the valence electron concentration approach of Hume-Rothery, developed previously for transition metals. The γ-brass-type phases of the main-group elements are rather rare. The intermetallic compound Be21Pt5, a new member of this family, was synthesized, and its crystal structure, chemical bonding, and physical properties were characterized...
January 9, 2018: Accounts of Chemical Research
https://www.readbyqxmd.com/read/29306563/yield-rate-of-chromosomal-microarray-analysis-in-fetuses-with-congenital-heart-defects
#6
Sifa Turan, Mehmet Resit Asoglu, Rinat Gabbay Benziv, Lauren Doyle, Christopher Harman, Ozhan M Turan
OBJECTIVE: The purpose of this study was to calculate the yield rates of CMA in fetuses diagnosed with various CHDs in a tertiary center. STUDY DESIGN: This cohort study collected prenatal genetic test results of 145 fetuses diagnosed with CHD. All 145 cases underwent Conventional karyotype (CK), followed by CMA in cases of negative CK result. "Detection rate" of genetic abnormalities was calculated as the percentage of cases with genetic abnormalities identified...
December 12, 2017: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://www.readbyqxmd.com/read/29305693/a-scale-up-approach-for-film-coating-process-based-on-surface-roughness-as-the-critical-quality-attribute
#7
Hiroyuki Yoshino, Yuko Hara, Masafumi Dohi, Kazunari Yamashita, Tadashi Hakomori, Shin-Ichiro Kimura, Yasunori Iwao, Shigeru Itai
Scale-up approaches for film coating process have been established for each type of film coating equipment from thermodynamic and mechanical analyses for several decades. The objective of the present study was to establish a versatile scale-up approach for film coating process applicable to commercial production that is based on critical quality attribute (CQA) using the Quality by Design (QbD) approach and is independent of the equipment used. Experiments on a pilot scale using the Design of Experiment (DoE) approach were performed to find a suitable CQA from surface roughness, contact angle, color difference, and coating film properties by terahertz spectroscopy...
January 5, 2018: AAPS PharmSciTech
https://www.readbyqxmd.com/read/29301000/developmental-defects-associated-with-dna-copy-number-gain-of-chromosome-2q33-1-a-case-report-and-review-of-literature
#8
Akshaya Gupta, Jacob Yo, Gengming Huang, Lynn Soong, Jianli Dong
Caspases play a vital role during apoptosis. In addition to apoptosis, caspases play a role in cytokine gene induction and work to inhibit apoptosis. In order for individuals to thrive with useful tissue growth, the rate of cell growth and division must surpass the rate of cell division. It is well established that excessive cell death of embryonic cells is a vital process occurring before structural abnormalities, regardless of their nature. Here we describe a 13-month-old male patient with a 4.7Mb interstitial duplication of chromosome 2q33...
December 29, 2017: Laboratory Medicine
https://www.readbyqxmd.com/read/29297200/utility-of-chromosomal-microarray-in-anomalous-fetuses
#9
Jacqueline G Parchem, Teresa N Sparks, Kristen Gosnell, Mary E Norton
OBJECTIVE: To determine the association of copy number variants (CNV) with perinatal outcomes among fetuses with sonographic abnormalities. METHODS: This was a retrospective cohort study of anomalous fetuses evaluated at a single fetal center, who underwent chromosomal microarray (CMA) testing. Pathogenic CNV or variants of uncertain significance (VUS) were classified as abnormal. The primary outcome of perinatal death was compared among fetuses with normal versus abnormal CMA...
January 3, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29296963/novel-tpo-receptor-agonist-ta-316-contributes-to-platelet-biogenesis-from-human-ips-cells
#10
Ayako Aihara, Tomo Koike, Natsuki Abe, Sou Nakamura, Akira Sawaguchi, Takanori Nakamura, Naoshi Sugimoto, Hiromitsu Nakauchi, Taito Nishino, Koji Eto
Signaling by thrombopoietin (TPO) in complex with its receptor, c-MPL, is critical for hematopoietic stem cell (HSC) homeostasis and platelet generation. Here we show that TA-316, a novel chemically synthesized c-MPL agonist (CMA), is useful for ex vivo platelet generation from human-induced pluripotent stem (iPS) cell-derived immortalized megakaryocyte progenitor cell lines (imMKCLs). Moreover, the generation is clinically applicable, because self-renewal expansion and platelet release is tightly controllable...
February 28, 2017: Blood Advances
https://www.readbyqxmd.com/read/29288792/distal-deletion-at-22q11-2-as-differential-diagnosis-in-craniofacial-microsomia-case-report-and-literature-review
#11
Samira Spineli-Silva, Luciana M Bispo, Vera L Gil-da-Silva-Lopes, Társis P Vieira
Craniofacial Microsomia (CFM) also known as Oculo-auriculo-vertebral Spectrum (OAVS) or Goldenhar Syndrome, presents wide phenotypic and etiological heterogeneity. It affects mainly the structures originated from the first and second pharyngeal arches. In addition, other major anomalies may also be found, including congenital heart diseases. In this study, we report a patient with distal deletion in the 22q11.2 region and a phenotype which resembles CFM. The proband is a girl, who presented bilateral preauricular tags, left auditory canal stenosis, - malar hypoplasia, cleft lip and palate, mild asymmetry of soft tissue in face, congenital heart disease, intestinal atresia, annular pancreas and hydronephrosis...
December 27, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29280190/paediatricians-expectations-and-perspectives-regarding-genetic-testing-for-children-with-developmental-disorders
#12
Isabelle Tremblay, Anne-Marie Laberge, Dominique Cousineau, Lionel Carmant, Anita Rowan, Annie Janvier
AIM: Investigate paediatricians' expectations and perspectives of genetic testing for children with developmental disorders. METHODS: Paediatricians working in a developmental clinic were surveyed each time they ordered a chromosomal microarray (CMA) for a child with developmental disorders. Clinical charts were reviewed. Results were analysed using mixed methodology. RESULTS: Ninety-seven % (73/76) of surveys were completed. Pediatricians reported that 36% of parents had difficulties understanding genetic testing and that 40% seemed anxious...
December 27, 2017: Acta Paediatrica
https://www.readbyqxmd.com/read/29273747/residues-his172-and-lys238-are-essential-for-the-catalytic-activity-of-the-maleylacetate-reductase-from-sphingobium-chlorophenolicum-strain-l-1
#13
Lifeng Chen, Ed S Krol, Meena K Sakharkar, Haseeb A Khan, Abdullah S Alhomida, Jian Yang
Maleylacetate reductase (PcpE), the last enzyme in the pentachlorophenol biodegradation pathway in Sphingobium chlorophenolicum L-1, catalyzes two consecutive reductive reactions, reductive dehalogenation of 2-chloromaleylacetate (2-CMA) to maleylacetate (MA) and subsequent reduction of MA to 3-oxoadipate (3-OXO). In each reaction, one molecule of NADH is consumed. To better understand its catalytic function, we undertook a structural model-based site-directed mutagenesis and steady-state kinetics study of PcpE...
December 22, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29259934/the-prevalence-of-malnutrition-in-iranian-elderly-a-review-article
#14
REVIEW
Hassan Abolghasem Gorji, Mahtab Alikhani, Mohammad Mohseni, Mohammad Moradi-Joo, Hajar Ziaiifar, Ahmad Moosavi
Background: The elderly population following the improvement in health status and life expectancy in developing countries is increasing. Malnutrition causes decreased quality of life and increased mortality in elderly. This study aimed to review systematically and meta-analysis of studies assessing the prevalence of malnutrition among Iranian elderly people over 60 yr of age using Mini Nutritional Assessment (MNA). Methods: This systematic review and meta-analysis was conducted in 2016 to estimate the overall malnutrition prevalence...
December 2017: Iranian Journal of Public Health
https://www.readbyqxmd.com/read/29236867/karyotype-analysis-in-bignonieae-bignoniaceae-chromosome-numbers-and-heterochromatin
#15
Joel M P Cordeiro, Miriam Kaehler, Gustavo Souza, Leonardo P Felix
Chromosome numbers and heterochromatin banding pattern variability have been shown to be useful for taxonomic and evolutionary studies of different plant taxa. Bignonieae is the largest tribe of Bignoniaceae, composed mostly by woody climber species whose taxonomies are quite complicated. We reviewed and added new data concerning chromosome numbers in Bignonieae and performed the first analyses of heterochromatin banding patterns in that tribe based on the fluorochromes chromomycin A3 (CMA) and 4'-6-diamidino-2-phenylindole (DAPI)...
December 11, 2017: Anais da Academia Brasileira de Ciências
https://www.readbyqxmd.com/read/29233876/molecular-control-of-chaperone-mediated-autophagy
#16
REVIEW
Steve Catarino, Paulo Pereira, Henrique Girão
Chaperone-mediated autophagy (CMA) is a selective form of autophagy in which cytosolic proteins bearing a pentapeptide motif biochemically related to the KFERQ sequence, are recognized by the heat shock protein family A member 8 (HSPA8) chaperone, delivered to the lysomal membrane, and directly translocated across the lysosomal membrane by a protein complex containing lysosomal associated membrane protein 2a (Lamp2a). Since its discovery over two decades ago, the importance of this pathway in cell proteostasis has been made increasingly apparent...
December 12, 2017: Essays in Biochemistry
https://www.readbyqxmd.com/read/29224951/design-and-synthesis-of-sulfonamidophenylethylureas-as-novel-cardiac-myosin-activator
#17
Manoj Manickam, Hitesh B Jalani, Thanigaimalai Pillaiyar, Pulla Reddy Boggu, Niti Sharma, Eeda Venkateswararao, You-Jung Lee, Eun-Seok Jeon, Min-Jeong Son, Sun-Hee Woo, Sang-Hun Jung
To optimize the lead urea scaffold 1 and 2 as selective cardiac myosin ATPase activator, a series of urea derivatives have been synthesized to explore its structure activity relationship. Among them N,N-dimethyl-4-(2-(3-(3-phenylpropyl)ureido)ethyl)benzenesulfonamide (13, CMA = 91.6%, FS = 17.62%; EF = 11.55%), N,N-dimethyl-4-(2-(1-methyl-3-(3-phenylpropyl)ureido)ethyl)benzene sulfonamide (40, CMA = 52.3%, FS = 38.96%; EF = 24.19%) and N,N-dimethyl-4-(2-(3-methyl-3-(3-phenylpropyl)ureido)ethyl)benzenesulfonamide (41, CMA = 47...
October 31, 2017: European Journal of Medicinal Chemistry
https://www.readbyqxmd.com/read/29218832/necrotizing-enterocolitis-in-the-setting-of-milk-allergy-after-pediatric-living-donor-liver-transplantation
#18
Soichi Narumoto, Seisuke Sakamoto, Hajime Uchida, Kengo Sasaki, Takanobu Shigeta, Akinari Fukuda, Shunsuke Nosaka, Rie Irie, Takako Yoshioka, Mureo Kasahara
NEC is an idiopathic intestinal mucosal injury that may progress to transmural bowel necrosis without mesenteric ischemia. NEC usually affects 7- to 10-day-old neonates following enteral feeding. A 10-month-old girl with no history of laparotomy underwent LDLT for acute liver failure. After starting enteral feeding on postoperative day 5, she developed abdominal distention. Diffuse PVG and PI were detected by radiologic modalities. Exploratory laparotomy revealed patchy necrosis of the intestine without perforation...
December 7, 2017: Pediatric Transplantation
https://www.readbyqxmd.com/read/29209992/cost-effectiveness-of-karyotyping-chromosomal-microarray-analysis-and-targeted-next-generation-sequencing-of-patients-with-unexplained-global-developmental-delay-or-intellectual-disability
#19
Yonghong Li, Lori A Anderson, Edward I Ginns, James J Devlin
BACKGROUND: Genetic diagnosis of unexplained global developmental delay and intellectual disability (GDD/ID) often ends the diagnostic odyssey and can lead to changes in clinical management. OBJECTIVE: The objective of this study was to investigate the cost effectiveness of testing scenarios involving several methods used to diagnose GDD/ID: karyotyping, chromosomal microarray analysis (CMA), and targeted next-generation sequencing (NGS). METHODS: We used decision-tree models to estimate the number of genetic diagnoses, the cost from a payers' perspective in the USA, and the incremental cost per additional genetic diagnosis...
December 5, 2017: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/29203207/suppression-of-autophagy-in-the-brain-of-transgenic-mice-with-overexpression-of-%C3%B0-53%C3%B0-mutant-%C3%AE-synuclein-as-an-early-event-at-synucleinopathy-progression
#20
Alexander B Pupyshev, Tatiana A Korolenko, Anna A Akopyan, Tamara G Amstislavskaya, Maria A Tikhonova
Transgenic overexpression of α-synuclein is a common model of Parkinson's disease (PD). Accumulation of А53Т-mutant α-synuclein induces three autophagy cell response: the inhibition of autophagy caused by the accumulation of α-synuclein, compensatory activation of macroautophagy in response to inhibition of the CMA, and toxic effects of mutant α-synuclein accompanied by the activation of autophagy. The overall effect of long-term overexpression of mutant α-synuclein in vivo remained unclear. Here we evaluated the activity of autophagy in the frontal cortex, striatum and s...
December 1, 2017: Neuroscience Letters
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