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https://www.readbyqxmd.com/read/28777863/-application-of-chromosome-microarray-analysis-for-the-delineation-of-pathogenesis-for-fetal-ventriculomegaly
#1
Zhouzhou Li, Fang Fu, Tingying Lei, Ru Li, Xiangyi Jing, Xin Yang, Jin Han, Min Pan, Li Zhen, Can Liao
OBJECTIVE: To assess the value of genome-wide high-resolution chromosomal microarray analysis (CMA) for the delineation of pathogenesis for fetal ventriculomegaly diagnosed by ultrasound or magnetic resonance imaging (MRI). METHODS: Three hundred and forty-one cases of fetal ventriculomegaly were collected. The samples were grouped based on the extent of lateral ventricular dilatation, presence of additional features, site of occurrence, and the maternal age. All samples were subjected to karyotyping analysis...
August 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28777852/-application-of-chromosome-microarray-analysis-in-489-children-with-developmental-delay-intellectual-disability
#2
Rongyue Wang, Tingying Lei, Fang Fu, Ru Li, Xiangyi Jing, Xin Yang, Min Pan, Dongzhi Li, Can Liao
OBJECTIVE: To assess the value of chromosome microarray analysis (CMA) for identifying the etiology of developmental delay/intellectual disability (DD/ID). METHODS: A total of 489 children referred for DD/ID with or without other abnormalities were recruited. All patients showed a normal karyotype. DNA was extracted and hybridized with Affymetrix CytoScan 750K array by following the manufacturer's protocol. The data was analyzed with CHAS v2.0 software. RESULTS: The children were classified as with isolated DD/ID (n=358), DD/ID with epilepsy (n=49), and DD/ID with other structural anomalies (n=82)...
August 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28764418/localization-and-separation-of-acoustic-sources-by-using-a-2-5-dimensional-circular-microphone-array
#3
Mingsian R Bai, Chang-Sheng Lai, Po-Chen Wu
Circular microphone arrays (CMAs) are sufficient in many immersive audio applications because azimuthal angles of sources are considered more important than the elevation angles in those occasions. However, the fact that CMAs do not resolve the elevation angle well can be a limitation for some applications which involves three-dimensional sound images. This paper proposes a 2.5-dimensional (2.5-D) CMA comprised of a CMA and a vertical logarithmic-spacing linear array (LLA) on the top. In the localization stage, two delay-and-sum beamformers are applied to the CMA and the LLA, respectively...
July 2017: Journal of the Acoustical Society of America
https://www.readbyqxmd.com/read/28763986/effective-synthesis-of-magnetic-porous-molecularly-imprinted-polymers-for-efficient-and-selective-extraction-of-cinnamic-acid-from-apple-juices
#4
Shuyun Shi, Dengxin Fan, Haiyan Xiang, Huan Li
An effective strategy was proposed to prepare novel magnetic porous molecularly imprinted polymers (MPMIPs) for highly selective extraction of cinnamic acid (CMA) from complex matrices. Characterization and various parameters affecting adsorption and desorption behaviors were investigated. Results revealed adsorption behavior between CMA and MPMIPs followed Freundlich equation adsorption isotherm with a maximum adsorption capacity at 4.35mg/g and pseudo-second-order reaction kinetics with equilibrium time at 60min...
December 15, 2017: Food Chemistry
https://www.readbyqxmd.com/read/28758040/repetitive-sinus-related-symptoms-may-accelerate-the-progression-of-chronic-maxillary-atelectasis
#5
Shu Kikuta, Kyohei Horikiri, Kaori Kanaya, Ryoji Kagoya, Kenji Kondo, Tatsuya Yamasoba
Chronic maxillary atelectasis (CMA) is characterized by a progressive decrease in maxillary sinus volume. The factors that promote the stage progression of CMA remain poorly understood. Here, we describe the time course of anatomical changes in a 40-year-old woman with stage II CMA that progressed to stage III disease. She did not show stage progression until she started to develop repetitive sinus-related symptoms. The stage progression was characterized by ocular symptoms. The repetitive inflammatory episodes may have increased the negative pressure in the affected sinus and weakened the bone walls, thereby promoting stage progression...
2017: Case Reports in Otolaryngology
https://www.readbyqxmd.com/read/28756003/-complementary-and-alternative-medicine-use-by-lung-cancer-patients
#6
R Rossanaly Vasram, M Zysman, B Ribeiro Baptista, C Ederle, P L Nguyen-Thi, C Clement-Duchene, Y Martinet
INTRODUCTION: Complementary and alternative medicine (CMA) use is frequent among cancer patients. Only few results are available about lung cancer patients. The aim of this study was to evaluate how often the CMA were used by lung cancer patients and to define the type of CMA used. METHODS: Every lung cancer patients with an ongoing chemotherapy in the respiratory department of the University Hospital of Nancy were approached between November 2014 to July 2015...
July 26, 2017: Revue de Pneumologie Clinique
https://www.readbyqxmd.com/read/28740634/human-papillomavirus-and-gastrointestinal-cancer-in-iranian-population-a-systematic-review-and-meta-analysis
#7
REVIEW
Versa Omrani-Navai, Reza Alizadeh-Navaei, Yousef Yahyapour, Akbar Hedayatizadeh-Omran, Saeid Abediankenari, Ghasem Janbabaei, Fatima Toghani
BACKGROUND: Gastrointestinal (GI) malignancies are the most common cancers and account for nearly half of all cancer-related deaths in Iran. There was a strong association between human papillomavirus (HPV) infection and urogenital cancers, in particular the cervix. However, there is no clear causal relationship in all types of cancers, including gastrointestinal cancers. Therefore, the present study as a systematic review and meta-analysis was designed to evaluate the prevalence and relation of HPV in GI cancers...
2017: Caspian Journal of Internal Medicine
https://www.readbyqxmd.com/read/28733899/6-ohda-induces-oxidation-of-f-box-protein-fbw7%C3%AE-by-chaperone-mediated-autophagy-in-parkinson-s-model
#8
Xiufeng Wang, Heng Zhai, Fang Wang
Parkinson's disease (PD) is the most common movement disorder disease, and its pathological feature is the degenerative loss of dopaminergic neurons in the substantia nigra compacta (SNc). In this study, we investigated whether distinct stress conditions target F-box protein Fbw7β via converging mechanisms. Our results showed that the 6-hyroxydopamine (6-OHDA), which causes PD in animals' models, led to decreased stability of Fbw7β in DA neuronal SN4741 cells. Further experiments suggested that oxidized Fbw7β bound to heat-shock cognate protein 70 kDa, the key regulator for chaperone-mediated autophagy (CMA), at a higher affinity...
July 22, 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/28726809/genomic-diagnostics-within-a-medically-underserved-population-efficacy-and-implications
#9
Kevin A Strauss, Claudia Gonzaga-Jauregui, Karlla W Brigatti, Katie B Williams, Alejandra K King, Cristopher Van Hout, Donna L Robinson, Millie Young, Kavita Praveen, Adam D Heaps, Mindy Kuebler, Aris Baras, Jeffrey G Reid, John D Overton, Frederick E Dewey, Robert N Jinks, Ian Finnegan, Scott J Mellis, Alan R Shuldiner, Erik G Puffenberger
PurposeWe integrated whole-exome sequencing (WES) and chromosomal microarray analysis (CMA) into a clinical workflow to serve an endogamous, uninsured, agrarian community.MethodsSeventy-nine probands (newborn to 49.8 years) who presented between 1998 and 2015 remained undiagnosed after biochemical and molecular investigations. We generated WES data for probands and family members and vetted variants through rephenotyping, segregation analyses, and population studies.ResultsThe most common presentation was neurological disease (64%)...
July 20, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28726807/when-genotype-is-not-predictive-of-phenotype-implications-for-genetic-counseling-based-on-21-594-chromosomal-microarray-analysis-examinations
#10
Idit Maya, Reuven Sharony, Shiri Yacobson, Sarit Kahana, Josepha Yeshaya, Tamar Tenne, Ifaat Agmon-Fishman, Lital Cohen-Vig, Yael Goldberg, Racheli Berger, Lina Basel-Salmon, Mordechai Shohat
PurposeTo compare the frequency of copy-number variants (CNVs) of variable penetrance in low-risk and high-risk prenatal samples and postnatal samples.MethodsTwo cohorts were categorized according to chromosomal microarray analysis (CMA) indication: group I, low-risk prenatal-women with uneventful pregnancy (control group); group II, high-risk prenatal-women whose fetuses had congenital malformations; and group III, postnatal-individuals with unexplained developmental delay/intellectual disability, autism spectrum disorders, or multiple congenital anomalies...
July 20, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28720381/tolerance-to-baked-and-fermented-cow-s-milk-in-children-with-ige-mediated-and-non-ige-mediated-cow-s-milk-allergy-in-patients-under-two-years-of-age
#11
A Uncuoglu, N Yologlu, I E Simsek, Z S Uyan, M Aydogan
BACKGROUND: IgE-mediated cow's milk allergy (CMA) has been shown consistent in milder heated-milk tolerant and severe heated-milk reactant groups in patients older than two years. Little is known whether fermentation of milk gives rise to similar clinical phenotypes. We aimed to determine the influence of extensively heated and fermented cow's milk on the IgE-mediated and non-IgE-mediated CMA in children younger than two years. METHODS: Subjects followed with the diagnosis of IgE-mediated and non-IgE-mediated CMA for at least six months underwent unheated milk challenge...
July 15, 2017: Allergologia et Immunopathologia
https://www.readbyqxmd.com/read/28716853/no-immediate-plans-to-build-new-cma-hq
#12
Wendy Glauser
No abstract text is available yet for this article.
July 17, 2017: CMAJ: Canadian Medical Association Journal, Journal de L'Association Medicale Canadienne
https://www.readbyqxmd.com/read/28708043/reirradiation-spine-stereotactic-body-radiation-therapy-for-spinal-metastases-systematic-review
#13
Sten Myrehaug, Arjun Sahgal, Motohiro Hayashi, Marc Levivier, Lijun Ma, Roberto Martinez, Ian Paddick, Jean Régis, Samuel Ryu, Ben Slotman, Antonio De Salles
OBJECTIVE Spinal metastases that recur after conventional palliative radiotherapy have historically been difficult to manage due to concerns of spinal cord toxicity in the retreatment setting. Spine stereotactic body radiation therapy (SBRT), also known as stereotactic radiosurgery, is emerging as an effective and safe means of delivering ablative doses to these recurrent tumors. The authors performed a systematic review of the literature to determine the clinical efficacy and safety of spine SBRT specific to previously irradiated spinal metastases...
July 14, 2017: Journal of Neurosurgery. Spine
https://www.readbyqxmd.com/read/28703151/predictability-of-resin-bonded-bridges-a-systematic-review
#14
G R Balasubramaniam
Objective The objective of this systematic review is to evaluate the survival rate of resin bonded bridges (RBBs) and understand the relationship between various prognostic factors and survival rate.Methods An electronic medline and hand search were carried out to identify prospective studies on RBBs. Critical appraisal of the studies was done and data was extracted from selected studies. Survival rate was estimated with random effect Poissons regression using R software. Influence of location and luting cements was estimated using odds ratio and forest plots using CMA software...
June 9, 2017: British Dental Journal
https://www.readbyqxmd.com/read/28702316/sporotrichosis-in-a-liver-transplant-patient-a-case-report-and-literature-review
#15
Renato Ferreira da Silva, Miguel Bonfitto, Francisco Inaldo Mendes da Silva Junior, Margarete Teresa Gottardo de Ameida, Rita de Cma da Silva
The liver transplant patient was admitted to the hospital with hyperemic, granulomatous, ulcerated lesion in the anterior compartment of the right lower limb with report of local trauma. The agent Sporothrix schenckii was isolated from biopsy of the lesion and lymph nodes of the right lower limb. In this case, the treatment was difficult because the patient has severe pulmonary hypertension and took the following drugs: warfarin, sildenafil, and tacrolimus. These medicines interact with the antifungal, which made it difficult...
September 2017: Medical Mycology Case Reports
https://www.readbyqxmd.com/read/28701822/the-difference-of-neural-networks-between-bimanual-antiphase-and-in-phase-upper-limb-movements-a-preliminary-functional-magnetic-resonance-imaging-study
#16
Qiang Lin, Hai Li, Yu-Rong Mao, Wai-Leung Lo, Jiang-Li Zhao, Ling Chen, Yan Leng, Dong-Feng Huang, Le Li
Most daily movements require some degree of collaboration between the upper limbs. The neural mechanisms are bimanual-condition specific and therefore should be different between different activities. In this study, we aimed to explore intraregional activation and interregional connectivity during bimanual movement by functional magnetic resonance imaging (fMRI). Ten right-handed, normal subjects were recruited. The neural correlates of unimanual (right side) and bimanual (in-phase and antiphase) upper limb movements were investigated...
2017: Behavioural Neurology
https://www.readbyqxmd.com/read/28698533/prevention-and-management-of-cow-s-milk-allergy-in-non-exclusively-breastfed-infants
#17
REVIEW
Yvan Vandenplas
Introduction: The prevention and management of cow milk allergy (CMA) is still debated. Since CMA is much less frequent in breastfed infants, breastfeeding should be stimulated. Method: Literature was searched using databases to find original papers and reviews on this topic. Results: Hydrolysates with a clinical proof of efficacy are recommended in the prevention and treatment of CMA. However, not all meta-analyses conclude that hydrolysates do prevent CMA or other atopic manifestations such as atopic dermatitis...
July 10, 2017: Nutrients
https://www.readbyqxmd.com/read/28696555/copy-number-variants-detection-by-low-pass-whole-genome-sequencing
#18
Zirui Dong, Weiwei Xie, Haixiao Chen, Jinjin Xu, Huilin Wang, Yun Li, Jun Wang, Fang Chen, Kwong Wai Choy, Hui Jiang
Emerging studies have demonstrated that whole-genome sequencing (WGS) is an efficient tool for copy-number variants (CNV) detection, particularly in probe-poor regions, as compared to chromosomal microarray analysis (CMA). However, the cost of testing is beyond economical for routine usage and the lengthy turn-around time is not ideal for clinical implementation. In addition, the demand for computational resources also reduces the probability of clinical integration into each laboratory. Herein, a protocol providing CNV detection from low-pass, whole-genome sequencing (0...
July 11, 2017: Current Protocols in Human Genetics
https://www.readbyqxmd.com/read/28688121/assessing-the-cost-of-implementing-the-2011-society-of-obstetricians-and-gynecologists-of-canada-and-canadian-college-of-medical-genetics-practice-guidelines-on-the-detection-of-fetal-aneuploidies
#19
Margaret Lilley, Stacey Hume, Nina Karpoff, Georges Maire, Sherry Taylor, Robert Tomaszewski, Maisa Yoshimoto, Susan Christian
BACKGROUND: The Society of Obstetricians and Gynecologists of Canada (SOGC) and the Canadian College of Medical Genetics (CCMG) published guidelines, in 2011, recommending replacement of karyotype with QF-PCR when prenatal testing is performed because of an increased risk of a common aneuploidy. STUDY OBJECTIVE: This study's objective is to perform a cost analysis following the implementation of QF-PCR as a stand-alone test. RESULTS: A total of 658 samples were received between April 1, 2014 and August 31, 2015: 576 amniocentesis samples and 82 CVS...
July 8, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28685970/invariant-natural-killer-cells-change-after-an-oral-allergy-desensitization-protocol-for-cow-s-milk
#20
Antonella Cianferoni, Rushani Saltzman, Francesca Saretta, Simona Barni, Emily Dudek, Mary Kelleher, Jonathan M Spergel
BACKGROUND: Cow milk (CM) allergy (CMA) affects up to 3% of the pediatric population and recent data suggest that only about 50% will outgrow by age 8. Oral immunotherapy (OIT) is a type of immune-modulating treatment that is able to induce desensitization to food allergens, to increase tolerance threshold, to reduce the risk of anaphylaxis, and to improve the patient's quality of life. The examination of the immunological changes observed during the establishment of food allergy (FA) desensitization in FA patients is a window into the pathogenesis of food allergy and food tolerance development...
July 7, 2017: Clinical and Experimental Allergy: Journal of the British Society for Allergy and Clinical Immunology
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