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https://www.readbyqxmd.com/read/29146476/mutation-screening-of-the-glis3-gene-in-a-cohort-of-592-chinese-patients-with-congenital-hypothyroidism
#1
Chunyun Fu, Shiyu Luo, Xigui Long, Yingfeng Li, Shangyang She, Xuehua Hu, Meizhen Mo, Zhanghong Wang, Yuhua Chen, Chun He, Jiasun Su, Yue Zhang, Fei Lin, Bobo Xie, Qifei Li, Shaoke Chen
OBJECTIVES: Defects in the human GLI-similar 3 (GLIS3) gene are reported to be a rare cause of congenital hypothyroidism (CH) and neonatal diabetes. The aim of this study was to examine the prevalence of GLIS3 mutation among CH patients in the Guangxi Zhuang Autonomous Region of China and to define the relationships between GLIS3 genotypes and clinical phenotypes. METHODS: Blood samples were collected from 592 patients with CH in Guangxi Zhuang Autonomous Region, China, and genomic DNA was extracted from peripheral blood leukocytes...
November 13, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/29138116/in-silico-identification-of-genes-involved-in-chronic-metabolic-acidosis
#2
Ishfaq A Sheikh, Adeel Malik, Sameera F M AlBasri, Mohd A Beg
AIMS: Chronic metabolic acidosis (CMA) refers to increased plasma acidity due to disturbed acid-base equilibrium in human body. CMA leads to many dysfunctions including disorders of intestinal metabolism and barrier functions. The human body responds to these intestinal dysfunctions by creating a compensatory mechanism at genomic level in intestinal epithelial cells. This study was to identify the molecular pathways involved in metabolic dysfunction and compensatory adaptations in intestinal epithelium during CMA...
November 11, 2017: Life Sciences
https://www.readbyqxmd.com/read/29130666/-application-of-chromosomal-microarray-analysis-for-chromosomal-abnormalities-of-spontaneously-aborted-fetuses
#3
Ting Hu, Hong-Mei Zhu, Zhu Zhang, Jia-Min Wang, Hai-Xia Zhang, Ze Du, Ling-Pingi Li, He Wang, Shan-Ling Liu
OBJECTIVE: To evaluate the clinical significance of chromosomal microarry analysis (CMA) for detection of chromosomal abnormalities in spontaneously aborted fetuses. METHODS: Chorionic villi samples from 431 spontaneously aborted fetuses were detected on the chromosomal abnormalities by CMA in our department form September 2014 to April 2016. RESULTS: The overall success rate of CMA was 100%,and 283 cases were detected with abnormalities (65...
September 2017: Sichuan da Xue Xue Bao. Yi Xue Ban, Journal of Sichuan University. Medical Science Edition
https://www.readbyqxmd.com/read/29128521/prenatal-chromosomal-microarray-analysis-in-fetuses-with-congenital-heart-disease-a-prospective-cohort-study
#4
Yan Wang, Li Cao, Dong Liang, Lulu Meng, Yun Wu, Fengchang Qiao, Xiuqing Ji, Chunyu Luo, Jingjing Zhang, Tianhui Xu, Bin Yu, Leilei Wang, Ting Wang, Qiong Pan, Dingyuan Ma, Ping Hu, Zhengfeng Xu
BACKGROUD: Currently, chromosomal microarray analysis is considered as the first-tier test in pediatric care and prenatal diagnosis. However, the diagnostic yield of CMA for prenatal diagnosis of congenital heart disease has not been evaluated based on a large cohort. OBJECTIVE: Our aim was to evaluate the clinical utility of chromosomal microarray as the first-tier test for chromosomal abnormalities in fetuses with congenital heart disease. STUDY DESIGN: In this prospective study, 602 prenatal cases of congenital heart disease were investigated using SNP array over a 5-year period...
November 8, 2017: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/29126154/a-cost-minimization-analysis-of-large-overjet-reduction-with-two-removable-functional-appliances-based-on-a-randomized-controlled-trial
#5
Emina Cirgic, Heidrun Kjellberg, Max Petzold, Ken Hansen
Objective: The purpose of this study was to assess and relate the societal costs of reducing large overjet with a prefabricated functional appliance (PFA), or a slightly modified Andresen activator (AA), using a cost-minimization analysis (CMA). Design, settings, and participants: A multicentre, prospective, randomized clinical trial was conducted with patients from 12 general dental practices. Ninety-seven patients with an Angle Class II, division 1 malocclusion, and an overjet of ≥6 mm were randomly allocated by lottery to treatment with either a PFA or an AA...
November 4, 2017: European Journal of Orthodontics
https://www.readbyqxmd.com/read/29125674/women-s-preference-for-non-invasive-prenatal-dna-testing-nipt-versus-chromosomal-microarray-after-screening-for-down-syndrome-a-prospective-study
#6
Yvonne Kwun Yue Cheng, Wing Cheong Leung, Tak Yeung Leung, Kwong Wai Choy, Rossa Wai Kwun Chiu, Tsz-Kin Lo, Ka Yin Kwok, Daljit Singh Sahota
OBJECTIVE: To examine preference for follow-up test in women screened high or intermediate risk in 1(st) or 2(nd) trimester Down syndrome screening. DESIGN: Prospective cohort study. SETTING: Three public hospitals in Hong Kong, China. SAMPLE: Women with term high risk ≥ 1:250 (HR) or intermediate risk 1:251-1:1200 (IR). METHODS: Women screened high risk were asked to decide among 1) an invasive test plus chromosomal microarray (CMA) to obtain more detailed fetal genetic information, 2) a non-invasive cell free prenatal DNA screening (NIPT) to detect trisomies 13, 18 and 21 to avoid procedure related miscarriage, and 3) decline further testing...
November 10, 2017: BJOG: An International Journal of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/29123515/dietary-intervention-with-%C3%AE-lactoglobulin-derived-peptides-and-a-specific-mixture-of-fructo-oligosaccharides-and-bifidobacterium-breve-m-16v-facilitates-the-prevention-of-whey-induced-allergy-in-mice-by-supporting-a-tolerance-prone-immune-environment
#7
Atanaska I Kostadinova, Alba Pablos-Tanarro, Mara A P Diks, Betty C A M van Esch, Johan Garssen, Léon M J Knippels, Linette E M Willemsen
Cow's milk allergy (CMA) prevails in infants and brings increased risk of developing other allergic diseases. Oral administration of specific β-lactoglobulin (BLG)-derived peptides (PepMix) and a specific blend of short- and long-chain fructo-oligosaccharides and Bifidobacterium breve M-16V (FF/Bb) was found to partially prevent CMA development in mice. In this study, we aimed to expand the knowledge on the preventive potential and the underlying mechanisms of this approach. Three-week-old female C3H/HeOuJ mice were orally exposed to PepMix±FF/Bb prior to a 5-week oral sensitization with whole whey and cholera toxin as an adjuvant...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/29120402/effective-thermal-expansion-property-of-consolidated-granular-materials
#8
Gülşad Küçük, Marcial Gonzalez, Alberto M Cuitiño
Thermally-assisted compaction of granular materials is of keen interest in many engineering applications. A proper estimation of the material behavior of compacted granular materials is contingent upon the knowledge of microstructure formation, which is highly dependent on the bulk material properties and processing conditions, during the deformation stage. Originating from the pair interactions between particles, the macroscopic properties are obtained using various homogenization techniques and postulating continuum constitutive laws...
November 9, 2017: Materials
https://www.readbyqxmd.com/read/29118929/cestrum-strigilatum-ruiz-pav%C3%A3-n-1799-b-chromosome-shares-repetitive-dna-sequences-with-a-chromosomes-of-different-cestrum-linnaeus-1753-species
#9
André Luís Laforga Vanzela, Adriano Alves de Paula, Carolina Cristina Quintas, Thiago Fernandes, Joana Neres da Cruz Baldissera, Thaíssa Boldieri de Souza
Species of Cestrum (Linnaeus, 1753) have shown large diversity in the accumulation and distribution of repetitive DNA families, and B chromosomes have been described in seven species. Some types of repetitive DNA were identified in A and B chromosomes in species of this plant group, such as AT-rich SSR, 35S and 5S rDNA, C-Giemsa and C-CMA/DAPI bands and retrotransposons. To increase our understanding of the relationships of A and B chromosomes, the B of C. strigilatum Ruiz & Pavón, 1799 was microdissected, amplified and hybridized in situ against chromosomes of this species, and in six other species of this genus...
2017: Comparative Cytogenetics
https://www.readbyqxmd.com/read/29113832/connecting-chaperone-mediated-autophagy-dysfunction-to-cellular-senescence
#10
REVIEW
Daniel Moreno-Blas, Elisa Gorostieta-Salas, Susana Castro-Obregón
Chaperone-mediated autophagy (CMA) is one of the main pathways of the lysosome-autophagy proteolytic system. It regulates different cellular process through the selective degradation of cytosolic proteins. In ageing, the function of CMA is impaired causing an inefficient stress response and the accumulation of damaged, oxidized or misfolded proteins, which is associated with numerous age-related diseases. Deficient protein degradation alters cellular proteostasis and activates signaling pathways that culminate in the induction of cellular senescence, whose accumulation is a typical feature of ageing...
November 4, 2017: Ageing Research Reviews
https://www.readbyqxmd.com/read/29098889/cost-effectiveness-of-using-an-extensively-hydrolysed-casein-formula-containing-lactobacillus-rhamnosus-gg-in-managing-infants-with-cow-s-milk-allergy-in-the-us
#11
Julian F Guest, Roger H Kobayashi, Vinay Mehta, Gary Neidich
OBJECTIVE: To estimate the cost-effectiveness of using an extensively hydrolysed casein formula containing the probiotic Lactobacillus rhamnosus GG, (eHCF+LGG; Nutramigen LGG) compared with eHCF alone, and amino acid formulae (AAF) in treating cow's milk allergy (CMA) in the US, from the perspective of third-party insurers and from parents. METHODS: A decision model was used to estimate the probability of cow's milk allergic infants developing tolerance to cow's milk by 18 months...
November 3, 2017: Current Medical Research and Opinion
https://www.readbyqxmd.com/read/29095347/randomised-trial-of-a-yogurt-type-amino-acid-based-formula-in-infants-and-children-with-severe-cow-s-milk-allergy
#12
François Payot, Alain Lachaux, Florent Lalanne, Nicolas Kalach
OBJECTIVES: Evaluation of a spoon-fed amino acid-based formula (AAF) with a yogurt-type texture compared to the reference oral liquid formula (Neocate). METHODS: Phase III/IV, prospective, randomized (1:1), open-label, multicenter study in infants/young children (6-36 months) with severe cow's milk protein allergy (CMA) who had consumed AAF for ≥1 month before the study. Patients received reference+test formula (Neocate with a yogurt-type texture for spoon-feeding: Group 1) or reference formula (Group 2) for 28 days...
October 31, 2017: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/29092222/streaking-of-43-attosecond-soft-x-ray-pulses-generated-by-a-passively-cep-stable-mid-infrared-driver
#13
Thomas Gaumnitz, Arohi Jain, Yoann Pertot, Martin Huppert, Inga Jordan, Fernando Ardana-Lamas, Hans Jakob Wörner
Attosecond metrology has so far largely remained limited to titanium:sapphire lasers combined with an active stabilization of the carrier-envelope phase (CEP). These sources limit the achievable photon energy to ∼100 eV which is too low to access X-ray absorption edges of most second- and third-row elements which are central to chemistry, biology and material science. Therefore, intense efforts are underway to extend attosecond metrology to the soft-X-ray (SXR) domain using mid-infrared (mid-IR) drivers. Here, we introduce and experimentally demonstrate a method that solves the long-standing problem of the complete temporal characterization of ultra-broadband (≫10 eV) attosecond pulses...
October 30, 2017: Optics Express
https://www.readbyqxmd.com/read/29079360/plga-nanoparticles-loaded-with-beta-lactoglobulin-derived-peptides-modulate-mucosal-immunity-and-may-facilitate-cow-s-milk-allergy-prevention
#14
Atanaska I Kostadinova, Jim Middelburg, Michele Ciulla, Johan Garssen, Wim E Hennink, Leon M J Knippels, Cornelus F van Nostrum, Linette E M Willemsen
Beta-lactoglobulin (BLG)-derived peptides may facilitate oral tolerance to whey and prevent cow's milk allergy (CMA). Loading of BLG-peptides in poly(lactic-co-glycolic acid) (PLGA) nanoparticles (Pep-NP) may improve this. Here we studied the uptake of NP and the capacity of NP and Pep-NP to activate bone marrow dendritic cells (BMDC). Furthermore, CMA prevention was evaluated by orally exposing three-week-old female C3H/HeOuJ mice to Pep-NP, NP or free peptides (PepMix) for 6 days before oral sensitization with whole whey protein and effects on the spleen and small intestine lamina propria (SI-LP) were studied...
October 25, 2017: European Journal of Pharmacology
https://www.readbyqxmd.com/read/29077965/phosphorus-bioavailability-in-increased-protein-reduced-fiber-canola-meal-conventional-canola-meal-and-soybean-meal-fed-to-crossbred-chicks
#15
C D Hanna, C K Foran, P L Utterback, H H Stein, C M Parsons
Three experiments were conducted to evaluate 3 increased-protein, reduced-fiber canola meals (CM) (CMA, CMB, and Test CM), 2 conventional CM (CCM), and 2 soybean meals (SBM). For determination of P bioavailability in CM and SBM, a P-deficient cornstarch-dextrose-SBM basal diet was fed as Diet 1. The latter basal diet was then supplemented with 0.05 and 0.10% P from KH2PO4 or 12.5 and 25% of a CM or SBM. In addition, the effect of phytase enzyme on bioavailability of the P in CMA, Test CM, and one of the CCM was determined using P-deficient 45% CM-cornstarch-dextrose diets (0...
October 25, 2017: Poultry Science
https://www.readbyqxmd.com/read/29075940/semiautomatic-procedure-to-assess-changes-in-the-eye-accommodative-system
#16
Aikaterini I Moulakaki, Daniel Monsálvez-Romín, Alberto Domínguez-Vicent, José J Esteve-Taboada, Robert Montés-Micó
PURPOSE: The aim of this pilot study was to evaluate a new semiautomatic procedure to assess in vivo changes in the crystalline lens and ciliary muscle during accommodation. METHODS: A total of 14 subjects were divided into two groups, young (aged between 20 and 25 years) and adult (aged between 35 and 40 years), and measured with an anterior segment optical coherence tomography. A semiautomatic procedure was implemented to measure the central lens thickness (CLT), anterior lens radius (ALR) and the ciliary muscle area (CMA) for the unaccommodated eye and for a vergence of - 3...
October 26, 2017: International Ophthalmology
https://www.readbyqxmd.com/read/29060963/-prenatal-diagnosis-of-17q12-microdeletion-syndrome-in-fetal-renal-abnormalities
#17
Y L Jiang, Q W Qi, X Y Zhou, F F Geng, J J Bai, N Hao, J T Liu
Objectives: To analyze 3 cases of 17q12 microdeletion syndrome diagnosed prenatally, and to demonstrate clinical phenotype of the syndrome in prenatal setting. Methods: From January 2013 to July 2017, 1 370 women received invasive prenatal diagnosis and chromosome microarray analysis (CMA) in Peking Union Medical College Hospital. Among them, 3 fetuses were diagnosed as 17q12 microdeletion syndrome. All 3 cases were low-risk pregnancies. Abnormal structures in fetal kidney were found in all 3 cases, including 1 case of multiple renal cysts, 2 cases of bilateral hyperechogenic kidneys...
October 25, 2017: Zhonghua Fu Chan Ke za Zhi
https://www.readbyqxmd.com/read/29060357/a-novel-heart-rate-variability-analysis-using-lagged-poincar%C3%A3-plot-a-study-on-hedonic-visual-elicitation
#18
M Nardelli, A Greco, G Valenza, A Lanata, R Bailon, E P Scilingo
This paper reports on a novel method for the analysis of Heart Rate Variability (HRV) through Lagged Poincaré Plot (LPP) theory. Specifically a hybrid method, LPPsymb, including LPP quantifiers and related symbolic dynamics was proposed. LPP has been applied to investigate the autonomic response to pleasant and unpleasant pictures extracted from the International Affective Picture System (IAPS). IAPS pictures are standardized in terms of level of arousal, i.e. the intensity of the evoked emotion, and valence, i...
July 2017: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/29055063/added-value-of-chromosomal-microarray-analysis-cma-over-karyotyping-in-early-pregnancy-loss-a-systematic-review-and-meta-analysis
#19
REVIEW
Montse Pauta, Maribel Grande, Laia Rodriguez-Revenga, Elena Kolomietz, Antoni Borrell
OBJECTIVE: To perform a systematic review of the literature and meta-analysis to estimate the added value of chromosomal microarray analysis (CMA) over karyotyping in early pregnancy loss. METHOD: This was a systematic review conducted in accordance with PRISMA criteria. All articles identified in PubMed, Ovid Medline and Web of Science, from January 2000 to April 2017 describing copy number variants (CNVs) in early pregnancy losses (up to 20 weeks) were included...
October 21, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29038699/the-correlation-of-social-support-with-mental-health-a-meta-analysis
#20
Tayebeh Fasihi Harandi, Maryam Mohammad Taghinasab, Tayebeh Dehghan Nayeri
BACKGROUND AND AIM: Social support is an important factor that can affect mental health. In recent decades, many studies have been done on the impact of social support on mental health. The purpose of the present study is to investigate the effect size of the relationship between social support and mental health in studies in Iran. METHODS: This meta-analysis was carried out in studies that were performed from 1996 through 2015. Databases included SID and Magiran, the comprehensive portal of human sciences, Noor specialized magazine databases, IRANDOC, Proquest, PubMed, Scopus, ERIC, Iranmedex and Google Scholar...
September 2017: Electronic Physician
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