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Duane syndrome

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https://www.readbyqxmd.com/read/27933387/effect-of-vitamin-d-on-biochemical-parameters-in-polycystic-ovary-syndrome-women-a-meta-analysis
#1
Yunping Xue, Pengfei Xu, Kai Xue, Xiaoyi Duan, Jian Cao, Ting Luan, Qian Li, Lin Gu
AIM: To investigate the therapeutical effect of vitamin D supplementation on the metabolism and endocrine parameters of PCOS patients. MATERIALS AND METHODS: Clinical studies investigating the therapeutic effect of vitamin D supplementation on PCOS patients were selected by searching PubMed, Embase, The Cochrane library and Web of Science until April 2016. The included articles were selected according to the inclusion criteria. Serum HOMA-IR, QUICKI, LDL, DHEAS, free testosterone (FT), total testosterone (TT), PTH, 25-hydroxy-vitamin D, and triglyceride of PCOS patients were enrolled for evaluating the therapeutic effects of vitamin D...
December 9, 2016: Archives of Gynecology and Obstetrics
https://www.readbyqxmd.com/read/27930547/modern-researches-on-blood-stasis-syndrome-1989-2015-a-bibliometric-analysis
#2
Jiangquan Liao, Jie Wang, Yongmei Liu, Jun Li, Lian Duan, Guang Chen, Junyuan Hu
BACKGROUND: Blood Stasis syndrome (BSS) is one of the major syndromes in Traditional East Asia medicine (TEAM). Modern research of BSS began in the late1980s. METHODS: We searched in PubMed for BSS-related articles published between 1989 and 2015. The publication information, study contents, and bibliometric indicators were documented and analyzed. RESULTS: Most of the BSS-related studies were conducted by Chinese researchers in China. The number of publications on BSS-related increased rapidly in recent years, so did the quality of them...
December 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27917693/identification-of-kcnq1-compound-heterozygous-mutations-in-three-chinese-families-with-jervell-and-lange-nielsen-syndrome
#3
Cuicui Wang, Yu Lu, Jing Cheng, Lei Zhang, Wei Liu, Weihua Peng, Di Zhang, Hong Duan, Dongyi Han, Huijun Yuan
CONCLUSION: Besides expanding the spectrum of KCNQ1 mutations causing Jervell and Lange-Nielsen Syndrome (JLNS), the results showed diversity of its phenotypes, and emphasized the importance of molecular genetic analysis in confirming clinical diagnosis and making diagnosis possible before the emergency symptoms for deaf individuals. OBJECTIVES: This study aimed to investigate four patients from three Chinese families with congenital hearing loss clinically and genetically...
December 5, 2016: Acta Oto-laryngologica
https://www.readbyqxmd.com/read/27908781/heme-oxygenase-1-metabolite-biliverdin-not-iron-inhibits-porcine-reproductive-and-respiratory-syndrome-virus-replication
#4
Angke Zhang, Hong Duan, Na Li, Lijuan Zhao, Fengxing Pu, Baicheng Huang, Chunyan Wu, Yuchen Nan, Taofeng Du, Yang Mu, Qin Zhao, Yani Sun, Gaiping Zhang, Julian A Hiscox, En-Min Zhou, Shuqi Xiao
Porcinereproductiveandrespiratorysyndromevirus (PRRSV) causes significant economic losses to the pork industry worldwide. Previously, we demonstrated that heme oxygenase-1 (HO-1) interferes with PRRSV replication. To elucidate the mechanisms involved, here we assess whether the HO-1 downstream metabolites biliverdin (BV) and/or iron mediate the HO-1 antiviral effect. We demonstrate a BV concentration-dependent suppression of PRRSV replication and show that virions are not directly inactivated by BV. Additionally, BV or N-acetyl cysteine (NAC) significantly reduced reactive oxygen species (ROS) in PRRSV-infected MARC-145 cells; however, because NAC did not reduce viral load, the BV antiviral effect is independent of decreased ROS levels...
November 28, 2016: Free Radical Biology & Medicine
https://www.readbyqxmd.com/read/27901060/body-composition-and-bone-mineral-status-in-patients-with-turner-syndrome
#5
Kun Shi, Li Liu, Yao-Juan He, Duan Li, Lian-Xiong Yuan, Gendie E Lash, Li Li
Turner syndrome (TS) is associated with decreased bone mineral density and increased fracture rate. However, the developmental trajectory of bone density or body composition in patients with TS is still unclear. The present study tested the hypothesis that different karyotypes and/or age contributes to abnormal body composition and decreased bone mineral status parameters in patients with TS. This study included 24 girls with TS, in which 13 girls exhibited X0 karyotype and 11 had mosaicism. Quantitative ultrasound (QUS) assessed the bone mineral status of the calcaneus, including bone mineral density (BMD), amplitude-dependent speed of sound (AD-SOS), broadband ultrasound attenuation (BUA) and InBody 770 assessed body composition...
November 30, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27895587/vitamin-d-signaling-through-induction-of-paneth-cell-defensins-maintains-gut-microbiota-and-improves-metabolic-disorders-and-hepatic-steatosis-in-animal-models
#6
Danmei Su, Yuanyang Nie, Airu Zhu, Zishuo Chen, Pengfei Wu, Li Zhang, Mei Luo, Qun Sun, Linbi Cai, Yuchen Lai, Zhixiong Xiao, Zhongping Duan, Sujun Zheng, Guihui Wu, Richard Hu, Hidekazu Tsukamoto, Aurelia Lugea, Zhenqui Liu, Stephen J Pandol, Yuan-Ping Han
Metabolic syndrome (MetS), characterized as obesity, insulin resistance, and non-alcoholic fatty liver diseases (NAFLD), is associated with vitamin D insufficiency/deficiency in epidemiological studies, while the underlying mechanism is poorly addressed. On the other hand, disorder of gut microbiota, namely dysbiosis, is known to cause MetS and NAFLD. It is also known that systemic inflammation blocks insulin signaling pathways, leading to insulin resistance and glucose intolerance, which are the driving force for hepatic steatosis...
2016: Frontiers in Physiology
https://www.readbyqxmd.com/read/27869798/gluten-induced-symptoms-in-diarrhea-predominant-irritable-bowel-syndrome-are-associated-with-increased-myosin-light-chain-kinase-activity-and-claudin-15-expression
#7
Richard L Wu, Maria I Vazquez-Roque, Paula Carlson, Duane Burton, Madhusudan Grover, Michael Camilleri, Jerrold R Turner
The mechanisms underlying diarrhea-predominant irritable bowel syndrome (IBS-D) are poorly understood, but increased intestinal permeability is thought to contribute to symptoms. A recent clinical trial of gluten-free diet (GFD) demonstrated symptomatic improvement, relative to gluten-containing diet (GCD), which was associated with reduced intestinal permeability in non-celiac disease IBS-D patients. The aim of this study was to characterize intestinal epithelial tight junction composition in IBS-D before and after dietary gluten challenge...
November 21, 2016: Laboratory Investigation; a Journal of Technical Methods and Pathology
https://www.readbyqxmd.com/read/27862258/raine-syndrome-omim-259775-caused-by-fam20c-mutation-is-congenital-sclerosing-osteomalacia-with-cerebral-calcification-omim-259660
#8
Michael P Whyte, William H McAlister, Michael D Fallon, Mary Ella Pierpont, Vinieth N Bijanki, Shenghui Duan, Ghada A Otaify, William S Sly, Steven Mumm
In 1985, we briefly reported infant sisters with a unique, lethal, autosomal recessive disorder designated congenital sclerosing osteomalacia with cerebral calcification. In 1986, this condition was entered into Mendelian Inheritance In Man (MIM) as osteomalacia, sclerosing, with cerebral calcification (MIM 259660). However, no attestations followed. Instead, in 1989 Raine and colleagues published an affected neonate considering unprecedented the striking clinical and radiographic features. In 1992, "Raine syndrome" entered MIM formally as osteosclerotic bone dysplasia, lethal (MIM #259775)...
November 10, 2016: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/27856362/colonic-transit-and-bile-acid-synthesis-or-excretion-in-patients-with-irritable-bowel-syndrome-diarrhea-without-bile-acid-malabsorption
#9
Cédric Peleman, Michael Camilleri, Irene Busciglio, Duane Burton, Leslie Donato, Alan R Zinsmeister
: bile acid malabsorption (BAM). BAs are passively absorbed to a different extent along the mammalian colon, so that levels are lower in the feces than in proximal colon. Our aim was to explore associations among total, primary, and secretory BA in stool and colonic transit in patients with irritable bowel syndrome-diarrhea (IBS-D) without overt BAM. METHODS: In a cross-sectional observational study of 116 patients with IBS-D recruited from local communities in Minnesota, we measured total and individual main fecal BA excretion, fecal fat and fecal weight over 48 hrs, fasting serum levels of C4 (surrogate for BA synthesis), and overall colonic transit by scintigraphy (geometric center at 24 hrs and 48 hrs)...
November 14, 2016: Clinical Gastroenterology and Hepatology
https://www.readbyqxmd.com/read/27852228/pregnancy-outcome-in-women-with-eisenmenger-s-syndrome-a-case-series-from-west-china
#10
Ruiqi Duan, Xiumei Xu, Xiaodong Wang, Haiyan Yu, Yong You, Xinghui Liu, Aiyun Xing, Rong Zhou, Mingrong Xi
BACKGROUND: Eisenmenger's syndrome (ES) consists of pulmonary hypertension with a reversed or bidirectional shunt at the atrioventricular, or aortopulmonary level. The cardiovascular changes that occur during the pregnancy contribute to the high maternal morbidity and mortality in patients with ES. This study is to assess maternal and fetal outcomes in patients with ES. METHODS: This study is a retrospective analysis of 11 pregnancies in women with ES who delivered at a tertiary care center in west China between 2010 and 2014...
November 16, 2016: BMC Pregnancy and Childbirth
https://www.readbyqxmd.com/read/27817779/-identification-of-a-novel-jag1-mutation-in-a-family-affected-by-alagille-syndrome
#11
Ying Cheng, Shu-Tao Zhao, Li Guo, Mei Deng, Qing Zhou, Yuan-Zong Song
Alagille syndrome (ALGS) is an autosomal dominant disorder which is mainly caused by JAG1 gene mutation and can affect multiple systems including the liver, heart, eyes, skeleton and face. This paper reports the clinical and genetic features of an ALGS patient. A 2-year-and-9-month-old boy was referred to the hospital with the complaint of abnormal liver function and heart murmur discovered over two years. Jaundice of the skin and sclera was not observed. The child had a prominent forehead, left esotropia, depressed nasal bridge and micromandible...
November 2016: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/27809752/dok3-degradation-is-required-for-the-development-of-lps-induced-ards-in-mice
#12
Ning Liu, Xiaofeng Liu, Xiaoou Li, Kaifang Duan, Yuming Deng, Xiuyan Yu, Qisheng Peng
It has been reported that DOK3 protein negatively regulates LPS responses and endotoxin tolerance in mice. However, the role of DOK3 in the development of acute respiratory distress syndrome (ARDS) remains unknown. In this study, we showed that DOK3 is degraded in the lung tissues of LPS-induced ARDS. Through lentivirus infection containing DOK3(K27R) via the intranasal route, we created a mice model, in which DOK3 maintains stable expression. We found that the forced DOK3 expression significantly attenuated LPS-induced pulmonary histological alterations, inflammatory cells infiltration, lung edema, as well as the generation of inflammatory cytokines TNFα, IL-1βand IL-6 in BALF of LPS-induced ARDS mice...
November 3, 2016: Current Gene Therapy
https://www.readbyqxmd.com/read/27795439/carbon-monoxide-inhibits-porcine-reproductive-and-respiratory-syndrome-virus-replication-by-the-cgmp-pkg-and-nf-%C3%AE%C2%BAb-signaling-pathway
#13
Angke Zhang, Lijuan Zhao, Na Li, Hong Duan, Hongliang Liu, Fengxing Pu, Gaiping Zhang, En-Min Zhou, Shuqi Xiao
: Porcine reproductive and respiratory syndrome virus (PRRSV) causes significant economic losses to the pork industry worldwide each year. Our previous research had demonstrated that heme oxygenase-1 (HO-1) can suppress PRRSV replication via an unknown molecular mechanism. In this study, inhibition of PRRSV replication was demonstrated to be mediated by carbon monoxide (CO), a downstream metabolite of HO-1. Using several approaches, we demonstrate that CO significantly inhibited PRRSV replication in both PRRSV permissive cell line, MARC-145, and the predominant cell type targeted during in vivo PRRSV infection, porcine alveolar macrophages (PAMs)...
October 19, 2016: Journal of Virology
https://www.readbyqxmd.com/read/27792752/application-of-snpscan-in-genetic-screening-for-common-hearing-loss-genes
#14
Zixuan Gao, Yu Lu, Jia Ke, Tao Li, Ping Hu, Yu Song, Chiyu Xu, Jie Wang, Jing Cheng, Lei Zhang, Hong Duan, Huijun Yuan, Furong Ma
The current study reports the successful application of a fast and efficient genetic screening system for common hearing loss (HL) genes based on SNPscan genotyping technology. Genetic analysis of 115 variants in common genes related to HL, GJB2, SLC26A4 and MT-RNR, was performed on 695 subjects with non-syndromic hearing loss (NSHL) from the Northern China. The results found that 38.7% (269/695) of cases carried bi-allelic pathogenic variants in GJB2 and SLC26A4 and 0.7% (5/695) of cases carried homoplasmic MT-RNR1 variants...
2016: PloS One
https://www.readbyqxmd.com/read/27786581/the-effect-of-pre-eclampsia-like-syndrome-induced-by-l-name-on-learning-and-memory-and-hippocampal-glucocorticoid-receptor-expression-a-rat-model
#15
Hao Zhu, Weimin Zhu, Rong Hu, Huijun Wang, Duan Ma, Xiaotian Li
OBJECTIVE: We aimed to study the impacts of pre-eclampsia on the cognitive and learning capabilities of adolescent rat offspring and to explore the possible underlying mechanisms at the molecular level. METHODS: Pregnant rats were subcutaneously injected with saline solution (control) (n = 16) or NG-nitro-L-arginine methyl ester (L-NAME) (n = 16) from the 13th day of gestation until parturition. The brain tissues from fetal rats delivered by cesarean section were examined in both groups with hematoxylin and eosin (H&E) staining...
October 27, 2016: Hypertension in Pregnancy
https://www.readbyqxmd.com/read/27775603/zinc-finger-and-x-linked-factor-zfx-binds-to-human-set-transcript-2-promoter-and-transactivates-set-expression
#16
Siliang Xu, Ping Duan, Jinping Li, Tristan Senkowski, Fengbiao Guo, Haibin Chen, Alberto Romero, Yugui Cui, Jiayin Liu, Shi-Wen Jiang
SET (SE Translocation) protein carries out multiple functions including those for protein phosphatase 2A (PP2A) inhibition, histone modification, DNA repair, and gene regulation. SET overexpression has been detected in brain neurons of patients suffering Alzheimer's disease, follicle theca cells of Polycystic Ovary Syndrome (PCOS) patients, and ovarian cancer cells, indicating that SET may play a pathological role for these disorders. SET transcript 2, produced by a specific promoter, represents a major transcript variant in different cell types...
October 20, 2016: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/27774063/a-novel-asp121asn-mutation-of-myelin-protein-zero-is-associated-with-late-onset-axonal-charcot-marie-tooth-disease-hearing-loss-and-pupil-abnormalities
#17
Xiaohui Duan, Weihong Gu, Ying Hao, Renbin Wang, Hong Wen, Shaojie Sun, Jinsong Jiao, Dongsheng Fan
Myelin protein zero (MPZ) is a major component of compact myelin in peripheral nerves. Mutations in MPZ have been associated with different Charcot-Marie-Tooth disease (CMT) phenotypes (CMT1B, CMT2I/J, CMTDI), Dejerine-Sottas syndrome, and congenital hypomyelination neuropathy. Here, we report phenotypic variability in a four-generation Chinese family with the MPZ mutation Asp121Asn. Genetic testing was performed on nine family members and 200 controls. Clinical, electrophysiological and skeletal muscle MRI assessments were available for review in six family members...
2016: Frontiers in Aging Neuroscience
https://www.readbyqxmd.com/read/27760888/elevated-thyroid-stimulating-hormone-levels-are-associated-with-metabolic-syndrome-in-a-chinese-community-based-population-of-euthyroid-people-aged-40-years-and-older
#18
Xu Bojin, Yang Hui, Wang Zhixiao, Yang Tao, Guo Hongwei, Cheng Pei, He Wei, Sun Min, Chen Huanhuan, Duan Yu
This study investigated whether high-normal thyrotropin (TSH) levels are associated with metabolic syndrome in euthyroid Chinese people≥40 years old. Clinical and metabolic factors were assessed in 2,356 subjects (40-77 years old) with TSH levels in the normal range (0.35-5.00 mU/L). Using 2.50 mU/L as the cut-off point of TSH level within the normal range, we divided subjects into the high-TSH (2.50-5.00 mU/L; n=1,064) and low-TSH (0.35-2.50 mU/L; n=11,292) group. The results showed that the mean levels of body mass index (BMI), total cholesterol (TC), low density lipoprotein cholesterol (LDL-C), and fasting plasma glucose (FPG) were higher in the high-TSH group and TSH levels were significantly positively correlated with BMI, LDL-C, TC, and FPG...
June 17, 2016: Journal of Biomedical Research
https://www.readbyqxmd.com/read/27760084/effect-of-gua-sha-therapy-on-perimenopausal-syndrome-a-randomized-controlled-trial
#19
Fang Meng, Pei-Bei Duan, Junya Zhu, Qing-Qing Lou, Zhao-Hui Fang, Hong-Li An, Lan-Ying Liu, Yue Hu, Qian Hu
OBJECTIVE: This study aims to evaluate the effectiveness and safety of Gua sha therapy on perimenopausal symptoms, quality of life, and serum female hormones in participants with perimenopausal syndrome. METHODS: A prospective, randomized, controlled clinical trial was conducted at the First Affiliated Hospital of Nanjing University of Chinese Medicine in China. Eighty women with perimenopausal syndrome were recruited and randomized into an intervention group or a control group...
October 10, 2016: Menopause: the Journal of the North American Menopause Society
https://www.readbyqxmd.com/read/27748330/hira-gene-is-lower-expressed-in-the-myocardium-of-patients-with-tetralogy-of-fallot
#20
Zhao-Ru Ju, Hui-Jun Wang, Xiao-Jing Ma, Duan Ma, Guo-Ying Huang
BACKGROUND: The most typical cardiac abnormality is conotruncal defects (CTDs) in patients with 22q11 deletion syndrome (22q11DS). HIRA (histone cell cycle regulator) gene, as one of the candidate genes located at the critical region of 22q11DS, was reported as possibly relevant to CTD in animal models. This study aimed to analyze the level of expression of the HIRA gene in tetralogy of Fallot (TOF) patients and the potential DNA sequence variations in the promoter region. METHODS: The messenger RNA (mRNA) expression was examined with quantitative real-time polymerase chain reaction in 39 myocardial tissues of the right ventricular outflow tract (RVOT) from TOF patients and 4 myocardial tissues of RVOT from noncardiac death children...
2016: Chinese Medical Journal
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