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https://www.readbyqxmd.com/read/29148864/morphologic-criteria-of-lesion-activity-in-neovascular-age-related-macular-degeneration-a-consensus-article
#1
Stefania Miotto, Nicola Zemella, Elena Gusson, Giacomo Panozzo, Sandro Saviano, Giuseppe Scarpa, Giorgio Boschi, Stefano Piermarocchi
Intravitreal antivascular endothelial growth factor drugs represent the current standard of care for neovascular age-related macular degeneration (nAMD). Individualized treatment regimens aim at obtaining the same visual benefits of monthly injections with a reduced number of injections and follow-up visits, and, consequently, of treatment burden. The target of these strategies is to timely recognize lesion recurrence, even before visual deterioration. Early detection of lesion activity is critical to ensure that clinical outcomes are not compromised by inappropriate delays in treatment, but questions remain on how to effectively monitor the choroidal neovascularization (CNV) activity...
November 17, 2017: Journal of Ocular Pharmacology and Therapeutics
https://www.readbyqxmd.com/read/29147009/mitochondrial-uqcrb-as-a-new-molecular-prognostic-biomarker-of-human-colorectal-cancer
#2
Hyun-Chul Kim, Junghwa Chang, Hannah S Lee, Ho Jeong Kwon
Ubiquinol cytochrome c reductase binding protein (UQCRB) is important for mitochondrial complex III stability, electron transport, cellular oxygen sensing and angiogenesis. However, its potential as a prognostic marker in colorectal cancer (CRC) remains unclear. The aim of this study was to determine whether UQCRB can be used as a diagnostic molecular marker for CRC. The correlation between the expression of three genes (UQCRB, UQCRFS1 and MT-CYB) in the mitochondrial respiratory chain complex III and clinico-pathological features was determined...
November 17, 2017: Experimental & Molecular Medicine
https://www.readbyqxmd.com/read/29146732/mir-539-5p-inhibits-experimental-choroidal-neovascularization-by-targeting-cxcr7
#3
Yifan Feng, Jing Wang, Yuanzhi Yuan, Xi Zhang, Minqian Shen, Fei Yuan
Stromal cell-derived factor-1 (SDF-1) has been previously confirmed to participate in the formation of choroidal neovascularization (CNV) via its receptor, CXC chemokine receptor (CXCR) 4; CXCR7 is a recently identified receptor for SDF-1. The molecular mechanisms and therapeutic value of CXCR7 in CNV remain undefined. In this study, experimental CNV was induced by laser photocoagulation in Brown-Norway pigmented rats, and aberrant CXCR7 overexpression was detected in the retinal pigment epithelial/choroid/sclera tissues of laser-injured eyes...
November 16, 2017: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/29141989/analysis-of-copy-number-variants-on-chromosome-21-in-down-syndrome-associated-congenital-heart-defects
#4
Benjamin L Rambo-Martin, Jennifer G Mulle, David J Cutler, Lora J H Bean, Tracie C Rosser, Kenneth J Dooley, Clifford Cua, George Capone, Cheryl L Maslen, Roger H Reeves, Stephanie L Sherman, Michael E Zwick
One in five people with Down syndrome (DS) are born with an atrioventricular septal defect (AVSD), an incidence 2,000 times higher than in the euploid population. The genetic loci that contribute to this risk are poorly understood. In this study, we tested two hypotheses: 1) individuals with DS carrying chromosome 21 copy number variants (CNVs) that interrupt exons may be protected from AVSD, because these CNVs return AVSD susceptibility loci back to disomy, and 2) individuals with DS carrying chromosome 21 genes spanned by microduplications are at greater risk for AVSD because these microduplications boost the dosage of AVSD susceptibility loci beyond a tolerable threshold...
November 15, 2017: G3: Genes—Genomes—Genetics
https://www.readbyqxmd.com/read/29141583/clinical-and-molecular-genetic-characterization-of-familial-mecp2-duplication-syndrome-in-a-chinese-family
#5
Xiaoyan Li, Hua Xie, Qian Chen, Xiongying Yu, Zhaoshi Yi, Erzhen Li, Ting Zhang, Jian Wang, Jianmin Zhong, Xiaoli Chen
BACKGROUND: Chromosomal duplication at the Xq28 region including the MECP2 gene, share consistent clinical phenotypes and a distinct facial phenotype known as MECP2 duplication syndrome. The typical clinical features include infantile hypotonia , mild dysmorphic features, a broad range of neurodevelopmental disorders, recurrent infections, and progressive spasticity. METHODS: This Chinese MECP2 duplication syndrome family includes six patients (five males and one female), and four asymptomatic female carriers...
November 15, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/29141310/-analysis-of-gene-mutation-of-early-onset-epileptic-spasm-with-unknown-reason
#6
X Yang, G Pan, W H Li, L M Zhang, B B Wu, H J Wang, P Zhang, S Z Zhou
Objective: To summarize the gene mutation of early onset epileptic spasm with unknown reason. Method: In this prospective study, data of patients with early onset epileptic spasm with unknown reason were collected from neurological department of Children's Hospital of Fudan University between March 2016 and December 2016. Patients with known disorders such as infection, metabolic, structural, immunological problems and known genetic mutations were excluded. Patients with genetic disease that can be diagnosed by clinical manifestations and phenotypic characteristics were also excluded...
November 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/29133637/the-inhibitory-effect-of-different-concentrations-of-kh902-eye-drops-on-corneal-neovascularization-induced-by-alkali-burn
#7
Yan Wu, Chunyan Xue, Yan Lu, Zhenping Huang
PURPOSE: The aim of this study was to evaluate the inhibitory effect of different concentrations of KH902 eye drops on rabbit corneal neovascularization (CNV) induced by alkali burn. METHODS: Forty-eight adult rabbits were randomized into four groups after alkali burning: Group A (2.5 mg/ml), Group B (5 mg/ml), and Group C (10 mg/ml) by different concentrations of KH902 eye drops and Group D by saline solution as control with three times a day for 2 weeks. At days 7, 14, and 28, the anterior segment photographs, confocal microscopy, and histopathology were performed to evaluate corneal opacity, neovascularization, inflammatory cell density, vessel size, and edema...
November 2017: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/29132324/caismov24-a-new-human-low-grade-serous-ovarian-carcinoma-cell-line
#8
Rodrigo Fernandes da Silva, Daniela Maira Cardozo, Gisele Olinto Libanio Rodrigues, Caroline Natânia de Souza-Araújo, Natacha Azussa Migita, Liliana Aparecida Lucci de Angelo Andrade, Sophie Derchain, José Andrés Yunes, Fernando Guimarães
BACKGROUND: The spontaneous immortalization of primary malignant cells is frequently assigned to their genetic instability during in vitro culturing. In this study, the new epithelial ovarian cancer cell line CAISMOV24 was described and compared with its original low-grade serous ovarian carcinoma. METHODS: The in vitro culture was established with cells isolated from ascites of a 60-year-old female patient with recurrent ovarian cancer. The CAISMOV24 line was assessed for cell growth, production of soluble biomarkers, expression of surface molecules and screened for typical mutations found in serous ovarian carcinoma...
November 13, 2017: BMC Cancer
https://www.readbyqxmd.com/read/29130626/age-related-macular-degeneration-using-morphological-predictors-to-modify-current-treatment-protocols
#9
REVIEW
Mohammed Ashraf, Ahmed Souka, Ron A Adelman
To assess predictors of treatment response in neovascular age-related macular degeneration (AMD) in an attempt to develop a patient-centric treatment algorithm. We conducted a systematic search using PubMed, EMBASE and Web of Science for prognostic indicators/predictive factors with the key words: 'age related macular degeneration', 'neovascular AMD', 'choroidal neovascular membrane (CNV)', 'anti-vascular endothelial growth factor (anti-VEGF)', 'aflibercept', 'ranibizumab', 'bevacizumab', 'randomized clinical trials', 'post-hoc', 'prognostic', 'predictive', 'response' 'injection frequency, 'treat and extend (TAE), 'pro re nata (PRN)', 'bi-monthly' and 'quarterly'...
November 11, 2017: Acta Ophthalmologica
https://www.readbyqxmd.com/read/29129660/microduplication-of-10q26-3-in-a-chinese-hypertriglyceridemia-patient
#10
Jing-Jing Li, Ya-Qin Chen, Liang-Liang Fan, Jie-Yuan Jin, Shuai Guo, Rong Xiang
Hypertriglyceridemia (HTG) plays an important role in the development and progression of atherosclerosis. It is inherited in an autosomal dominant pattern with a frequency of approximately 1:1,000,000 worldwide. Previous study has demonstrated that more than six genes underlie this disorder. In addition, copy number variants (CNVs) including disease-causing genes also play a crucial role in it. In this study, we have employed SNP-ARRAY chip technology to detect the pathogenic CNVs in a HTG patient who carried no meaningful mutations in HTG candidate genes...
November 9, 2017: Molecular and Cellular Probes
https://www.readbyqxmd.com/read/29126171/copy-number-variant-in-the-region-of-adenosine-kinase-adk-and-its-possible-contribution-to-schizophrenia-susceptibility
#11
Hiroki Kimura, Itaru Kushima, Akira Yohimi, Branko Aleksic, Norio Ozaki
Background: Adenosine kinase (ADK) is supposed to be a schizophrenia (SCZ) susceptibility gene based on the findings that ADK is an enzyme that catalyzes transfer of the gamma-phosphate from ATP to adenosine, which interacts with dopamine and glutamate, neurotransmitters. However, no reports of SCZ cases with loss of function variants in the ADK region have been published. In our previous study investigating copy number variants (CNV) in SCZ, we detected a CNV in the ADK region in one of 1699 SCZ patients...
November 6, 2017: International Journal of Neuropsychopharmacology
https://www.readbyqxmd.com/read/29125573/tailoring-nutritional-advice-for-mexicans-based-on-prevalence-profiles-of-diet-related-adaptive-gene-polymorphisms
#12
Claudia Ojeda-Granados, Arturo Panduro, Karina Gonzalez-Aldaco, Maricruz Sepulveda-Villegas, Ingrid Rivera-Iñiguez, Sonia Roman
Diet-related adaptive gene (DRAG) polymorphisms identified in specific populations are associated with chronic disorders in carriers of the adaptive alleles due to changes in dietary and lifestyle patterns in recent times. Mexico's population is comprised of Amerindians (AM) and Mestizos who have variable AM, European (EUR) and African genetic ancestry and an increased risk of nutrition-related chronic diseases. Nutritional advice based on the Mexican genome and the traditional food culture is needed to develop preventive and therapeutic strategies...
November 10, 2017: Journal of Personalized Medicine
https://www.readbyqxmd.com/read/29121366/nonconforming-deep-focal-choroidal-excavation-in-a-patient-with-choroidal-osteoma-a-diagnostic-dilemma
#13
Rohan Chawla, Shorya Vardhan Azad, Brijesh Takkar, Anu Sharma, Bibhuti Kashyap
Evolution of an osteoma may result in neurosensory detachment, deossification, and choroidal neovascularization (CNV). The authors report a rare case of choroidal osteoma with CNV associated with a deep non-conforming focal choroidal excavation. [Ophthalmic Surg Lasers Imaging Retina. 2017;48:944-947.].
November 1, 2017: Ophthalmic Surgery, Lasers & Imaging Retina
https://www.readbyqxmd.com/read/29116104/germline-copy-number-variations-are-associated-with-breast-cancer-risk-and-prognosis
#14
Mahalakshmi Kumaran, Carol E Cass, Kathryn Graham, John R Mackey, Roland Hubaux, Wan Lam, Yutaka Yasui, Sambasivarao Damaraju
Breast cancer is one of the most common cancers among women, and susceptibility is explained by genetic, lifestyle and environmental components. Copy Number Variants (CNVs) are structural DNA variations that contribute to diverse phenotypes via gene-dosage effects or cis-regulation. In this study, we aimed to identify germline CNVs associated with breast cancer susceptibility and their relevance to prognosis. We performed whole genome CNV genotyping in 422 cases and 348 controls using Human Affymetrix SNP 6 array...
November 7, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29112706/nanostringnormcnv-pre-processing-of-nanostring-cnv-data
#15
Dorota H Sendorek, Emilie Lalonde, Cindy Q Yao, Veronica Y Sabelnykova, Robert G Bristow, Paul C Boutros
Summary: The NanoString System is a well-established technology for measuring RNA and DNA abundance. Although it can estimate copy number variation, relatively few tools support analysis of these data. To address this gap, we created NanoStringNormCNV, an R package for pre-processing and copy number variant calling from NanoString data. This package implements algorithms for pre-processing, quality-control, normalization and copy number variation detection. A series of reporting and data visualization methods support exploratory analyses...
November 3, 2017: Bioinformatics
https://www.readbyqxmd.com/read/29111834/evolving-multidimensional-pharmacological-approaches-to-cnv-therapy-in-amd
#16
Moshe Ehrenberg, Ofra Benny
PURPOSE: The leading cause of severe visual loss world-wide is age-related macular degeneration. Although anti-Vascular Endothelial Growth Factor agents have significantly led to the initial pharmacologic reversal of vision loss in many cases of exudative macular degeneration, there still has been recurrence of choroidal neovascularization, and/or the onset of chorioretinal atrophy with fibrosis. MATERIALS AND METHODS: In this review we discuss the status of anti- Vascular Endothelial Growth Factor in age-related macular degeneration and describe different studies focused on new potential therapeutic targets beyond anti- Vascular Endothelial Growth Factor...
November 7, 2017: Current Eye Research
https://www.readbyqxmd.com/read/29111299/diagnosis-and-treatment-guideline-for-myopic-choroidal-neovascularization-due-to-pathologic-myopia
#17
REVIEW
Kyoko Ohno-Matsui, Yasushi Ikuno, Timothy Y Y Lai, Chui Ming Gemmy Cheung
Pathologic myopia is a leading cause of visual impairment. Development of myopic choroidal neovascularization (CNV) is one of the most common complications that leads to central vision loss in patients with pathologic myopia. If left untreated, it can cause scarring with expanding macular atrophy leading to irreversible visual loss in a period as short as 5 years. Advancements in multimodal imaging technology have furthered our understanding of the condition; however, further studies are necessary to extend its utility in the diagnosis of myopic CNV...
October 27, 2017: Progress in Retinal and Eye Research
https://www.readbyqxmd.com/read/29109897/optic-coherence-angiography-findings-in-type-2-macular-telangiectasia
#18
Hilal Nalcı, Figen Şermet, Sibel Demirel, Emin Özmert
Objectives: To evaluate the vascular changes of idiopathic macular telangiectasia type 2 (MacTel 2) patients with optical coherence tomography angiography (OCTA) and correlate these changes with the findings of spectral domain optical coherence tomography (SD-OCT). Materials and Methods: Simultaneous SD-OCT and OCTA images of 10 eyes of 6 patients who were diagnosed as MacTel 2 in Ankara University Faculty of Medicine, Department of Ophthalmology were obtained and graded according to the OCTA grading system for MacTel 2...
October 2017: Turkish Journal of Ophthalmology
https://www.readbyqxmd.com/read/29109866/correlation-between-choroidal-neovascularization-shown-by-oct-angiography-and-choroidal-thickness-in-patients-with-chronic-central-serous-chorioretinopathy
#19
Joanna Gołębiewska, Joanna Brydak-Godowska, Joanna Moneta-Wielgoś, Monika Turczyńska, Dariusz Kęcik, Wojciech Hautz
Purpose: To assess the occurrence of choroidal neovascularization (CNV) secondary to chronic central serous chorioretinopathy (CSCR) using optical coherence tomography angiography (OCTA) and correlate these findings with choroidal thickness (CT). Materials and Methods: This retrospective study included 25 consecutive patients (43 eyes), mean age 48.12 ± 7.8 years, diagnosed with persistent CSCR. All patients underwent a complete ophthalmic examination, fluorescein angiography (FA), indocyanine green angiography (ICGA), optical coherence tomography, and OCTA...
2017: Journal of Ophthalmology
https://www.readbyqxmd.com/read/29109036/the-role-of-the-p3-and-cnv-components-in-voluntary-and-automatic-temporal-orienting-a-high-spatial-resolution-erp-study
#20
Giovanni Mento
A main distinction has been proposed between voluntary and automatic mechanisms underlying temporal orienting (TO) of selective attention. Voluntary TO implies the endogenous directing of attention induced by symbolic cues. Conversely, automatic TO is exogenously instantiated by the physical properties of stimuli. A well-known example of automatic TO is sequential effects (SEs), which refer to the adjustments in participants' behavioral performance as a function of the trial-by-trial sequential distribution of the foreperiod between two stimuli...
November 9, 2017: Neuropsychologia
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