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Duane syndrome

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https://www.readbyqxmd.com/read/28074863/herb-pair-danggui-honghua-mechanisms-underlying-blood-stasis-syndrome-by-system-pharmacology-approach
#1
Shi-Jun Yue, Lan-Ting Xin, Ya-Chu Fan, Shu-Jiao Li, Yu-Ping Tang, Jin-Ao Duan, Hua-Shi Guan, Chang-Yun Wang
Herb pair Danggui-Honghua has been frequently used for treatment of blood stasis syndrome (BSS) in China, one of the most common clinical pathological syndromes in traditional Chinese medicine (TCM). However, its therapeutic mechanism has not been clearly elucidated. In the present study, a feasible system pharmacology model based on chemical, pharmacokinetic and pharmacological data was developed via network construction approach to clarify the mechanisms of this herb pair. Thirty-one active ingredients of Danggui-Honghua possessing favorable pharmacokinetic profiles and biological activities were selected, interacting with 42 BSS-related targets to provide potential synergistic therapeutic actions...
January 11, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28068523/rs12941170-at-sox9-gene-associated-with-orofacial-clefts-in-chinese
#2
Zhong-Lin Jia, Sha He, Shu-Yuan Jiang, Bi-He Zhang, Shi-Jun Duan, Jia-Yu Shi, Ning Huang, Wen-Chao Zhu, Bing Shi
OBJECTIVE: Non-syndromic orofacial cleftings (NSOCs) are considered as complex trait, which results from genetic and/or environmental modifiers. Current findings could only explain small portion of the NSOCs. SOX9 gene plays an important role during craniofacial development in animal models and the Pierre Robin sequence (PRS). However, its role in non-syndromic clefts remains unknown. DESIGN: In this study, we selected eight SNPs in and around SOX9 gene to make maximum coverage, and genotyped them by using RFLP-PCR and ligase detection reaction (LDR) methods to test its associations among 151 NSOCs (53 NSCLP, 52 NSCLO and 46 NSCPO) from Western Han Chinese population...
December 30, 2016: Archives of Oral Biology
https://www.readbyqxmd.com/read/28060790/family-based-association-study-of-rs17300539-and-rs12495941-polymorphism-in-adiponectin-gene-and-polycystic-ovary-syndrome-in-a-chinese-population
#3
Xianchang Sun, Xingguo Wu, Yunmin Duan, Guanghai Liu, Xinyan Yu, Wenjuan Zhang
BACKGROUND Polycystic ovary syndrome (PCOS) is a complex disease that has both genetic and environmental components. Adiponectin plays an important role in the regulation of insulin sensitivity and insulin resistance (IR) in PCOS. The aim of this study was to determine 2 single-nucleotide polymorphisms (SNPs) variants (rs12495941 and rs17300539) of the adiponectin gene (ADIPOQ) in polycystic ovary syndrome (PCOS) families. MATERIAL AND METHODS We recruited 197 PCOS probands, their biological parents, and 192 controls...
January 6, 2017: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
https://www.readbyqxmd.com/read/28030494/traumatic-colon-injury-in-damage-control-laparotomy-a-multicenter-trial-is-it-safe-to-do-a-delayed-anastomosis
#4
Leah Tatebe, Andrew Jennings, Ken Tatebe, Alexandra Handy, Purvi Prajapati, Michael Smith, Tai Do, Gerald O Ogola, Rajesh R Gandhi, Therese M Duane, Stephen Luk, Laura B Petrey
BACKGROUND: Delayed colonic anastomosis after damage control laparotomy (DCL) is an alternative to colostomies during a single laparotomy (SL) in high-risk patients. However, literature suggests increased colonic leak rates up to 27% with DCL, and various reported risk factors. We evaluated our regional experience to determine if delayed colonic anastomosis was associated with worse outcomes. METHODS: A multi-center retrospective cohort study was performed across three Level I Trauma Centers encompassing traumatic colon injuries from January 2006 through June 2014...
December 23, 2016: Journal of Trauma and Acute Care Surgery
https://www.readbyqxmd.com/read/28013291/slc44a4-mutation-causes-autosomal-dominant-hereditary-postlingual-non-syndromic-mid-frequency-hearing-loss
#5
Zhaoxin Ma, Wenjun Xia, Fei Liu, Jing Ma, Shaoyang Sun, Jin Zhang, Nan Jiang, Xu Wang, Jiongjiong Hu, Duan Ma
Clinical, genetic, and functional investigations were performed to identify the causative mutation in a distinctive Chinese family with postlingual non-syndromic mid-frequency sensorineural hearing loss. Whole-exome sequencing revealed SLC44A4, which encodes the choline transport protein, as the pathogenic gene in this family. In the zebrafish model, downregulation of slc44a4 using morpholinos led to significant abnormalities in zebrafish inner ear and lateral line neuromasts and contributed, to some extent, to disabilities in hearing and balance...
December 23, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/28009406/the-frequency-and-causes-of-abnormal-head-position-based-on-an-ophthalmology-clinic-s-findings-is-it-overlooked
#6
Kadriye Erkan Turan, Hande Taylan Sekeroglu, Irem Koc, Meltem Kilic, Ali S Sanac
PURPOSE: To determine the frequency of abnormal head position (AHP) and identify the underlying causes in patients who presented to an ophthalmology clinic due to any ophthalmologic complaint. METHODS: The medical records of patients who presented with any ophthalmologic symptoms during a 6-month period were prospectively evaluated. In all, 2,710 patients (1,492 female and 1,218 male) aged 6 months-91 years were included in the study. Each patient underwent complete ophthalmologic evaluation...
December 2, 2016: European Journal of Ophthalmology
https://www.readbyqxmd.com/read/27977588/clinical-characteristics-of-immune-thrombocytopenia-associated-with-autoimmune-disease-a-retrospective-study
#7
Yuan Liu, Shiju Chen, Yuechi Sun, Qingyan Lin, Xining Liao, Junhui Zhang, Jiao Luo, Hongyan Qian, Lihua Duan, Guixiu Shi
To clarify clinical characteristics of immune thrombocytopenia (ITP) subsets associated with autoimmune diseases (AIDs).Five thousand five hundred twenty patients were reviewed retrospectively. One hundred four ITP patients were included for analysis. Clinical manifestations at first thrombocytopenic episode were recorded.Systemic lupus erythematosus (SLE) and primary Sjogren syndrome (pSS) accounted for a large part in AIDs associated with secondary ITP. SLE-ITP, pSS-ITP, and primary ITP (pITP) patients were different in several aspects in clinical and immunological characteristics...
December 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27977037/a-high-prevalence-of-exotropia-in-patients-with-duane-retraction-syndrome-in-a-tertiary-eye-care-center-in-south-india
#8
Manjushree Bhate, Virender Sachdeva, Ramesh Kekunnaya
PURPOSE: To determine the prevalence and clinical characteristics of patients with Duane retraction syndrome presenting with exotropia in a tertiary eye care center. METHODS: Medical records of 140 patients with Duane retraction syndrome and exotropia (of the total 441 patients with Duane retraction syndrome) seen from 2000 to 2009 were reviewed. Characteristics studied included age at presentation, gender, laterality, manifest primary position, abnormal head posture, ocular motility, and overshoots...
December 8, 2016: Journal of Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/27974112/-effect-of-early-caffeine-treatment-on-the-need-for-respirator-therapy-in-preterm-infants-with-respiratory-distress-syndrome
#9
Qiao-Zhen Wei, Ping Su, Jin-Tian Han, Xia Zhang, Yu-Hui Duan
OBJECTIVE: To study the efficacy of early caffeine treatment in preterm infants with respiratory distress syndrome (RDS). METHODS: A prospective controlled clinical trial was performed. A total of 59 preterm infants with RDS were enrolled and divided into a caffeine group (30 infants) and a control group (29 infants). Caffeine was administered in the caffeine group and control group at the same dosage at 12-24 hours after birth and before extubation respectively...
December 2016: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/27965142/duane-syndrome-with-prominent-oculo-auricular-phenomenon
#10
Aubrey L Gilbert, David G Hunter
Duane syndrome is a congenital cranial dysinnervation disorder involving absent or anomalous innervation of the lateral and medial rectus muscles that is sometimes associated with other manifestations of dysinnervation. We describe a patient with right esotropic Duane syndrome with a long-standing retroauricular tugging sensation in right gaze who was noted to have prominent ipsilateral oculo-auricular phenomenon, representing either abnormal enhancement of existing innervation or an uncommon dysinnervation...
December 10, 2016: Journal of AAPOS: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/27955618/n-terminal-pro-brain-natriuretic-peptide-improves-the-c-acs-risk-score-prediction-of-clinical-outcomes-in-patients-with-st-elevation-myocardial-infarction
#11
Peng-Cheng He, Chong-Yang Duan, Yuan-Hui Liu, Xue-Biao Wei, Shu-Guang Lin
BACKGROUND: It remained unclear whether the combination of the Canada Acute Coronary Syndrome Risk Score (CACS-RS) and N-terminal pro-brain natriuretic peptide (NT-pro-BNP) could have a better performance in predicting clinical outcomes in acute ST-elevation myocardial infarction (STEMI) patients with primary percutaneous coronary intervention. METHODS: A total of 589 consecutive STEMI patients were enrolled. The potential additional predictive value of NT-pro-BNP with the CACS-RS was estimated...
December 12, 2016: BMC Cardiovascular Disorders
https://www.readbyqxmd.com/read/27941963/clinical-and-genetic-findings-in-mexican-patients-with-duane-anomaly-and-radial-ray-malformations-okihiro-syndrome
#12
Óscar F Chacón-Camacho, Jesús Cabral-Macías, Raúl Ayala-Ramírez, Jazmín Arteaga-Vázquez, Yevgeniya Svyryd, Karla Helmes, Nohemí Pérez-Hernández, Osvaldo M Mutchinick, Juan Carlos Zenteno
BACKGROUND: Okihiro syndrome is an autosomal-dominant condition characterized by radial ray malformations associated with Duane anomaly and other clinical characteristics. SALL4 mutations have been identified in 80-90% of patients with Duane- Radial ray defects/Okihiro syndrome. We report the clinical findings and results of SALL4 sequencing from a group of Mexican patients with this disorder. OBJECTIVE: Clinical description and identification of SALL4 mutations in Mexican subjects with radial defects and Duane anomaly...
September 2016: Revista de Investigación Clínica; Organo del Hospital de Enfermedades de la Nutrición
https://www.readbyqxmd.com/read/27939641/loss-of-function-mutations-in-yy1ap1-lead-to-grange-syndrome-and-a-fibromuscular-dysplasia-like-vascular-disease
#13
Dong-Chuan Guo, Xue-Yan Duan, Ellen S Regalado, Lauren Mellor-Crummey, Callie S Kwartler, Dong Kim, Kenneth Lieberman, Bert B A de Vries, Rolph Pfundt, Albert Schinzel, Dieter Kotzot, Xuetong Shen, Min-Lee Yang, Michael J Bamshad, Deborah A Nickerson, Heather L Gornik, Santhi K Ganesh, Alan C Braverman, Dorothy K Grange, Dianna M Milewicz
Fibromuscular dysplasia (FMD) is a heterogeneous group of non-atherosclerotic and non-inflammatory arterial diseases that primarily involves the renal and cerebrovascular arteries. Grange syndrome is an autosomal-recessive condition characterized by severe and early-onset vascular disease similar to FMD and variable penetrance of brachydactyly, syndactyly, bone fragility, and learning disabilities. Exome-sequencing analysis of DNA from three affected siblings with Grange syndrome identified compound heterozygous nonsense variants in YY1AP1, and homozygous nonsense or frameshift YY1AP1 variants were subsequently identified in additional unrelated probands with Grange syndrome...
January 5, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27933387/effect-of-vitamin-d-on-biochemical-parameters-in-polycystic-ovary-syndrome-women-a-meta-analysis
#14
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
#15
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
#16
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
#17
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...
January 2017: Free Radical Biology & Medicine
https://www.readbyqxmd.com/read/27901060/body-composition-and-bone-mineral-status-in-patients-with-turner-syndrome
#18
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
#19
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
#20
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...
January 2017: Laboratory Investigation; a Journal of Technical Methods and Pathology
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