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Duane syndrome

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https://www.readbyqxmd.com/read/28346409/the-metabolic-er-stress-sensor-ire1%C3%AE-suppresses-alternative-activation-of-macrophages-and-impairs-energy-expenditure-in-obesity
#1
Bo Shan, Xiaoxia Wang, Ying Wu, Chi Xu, Zhixiong Xia, Jianli Dai, Mengle Shao, Feng Zhao, Shengqi He, Liu Yang, Mingliang Zhang, Fajun Nan, Jia Li, Jianmiao Liu, Jianfeng Liu, Weiping Jia, Yifu Qiu, Baoliang Song, Jing-Dong J Han, Liangyou Rui, Sheng-Zhong Duan, Yong Liu
Obesity is associated with metabolic inflammation and endoplasmic reticulum (ER) stress, both of which promote metabolic disease progression. Adipose tissue macrophages (ATMs) are key players orchestrating metabolic inflammation, and ER stress enhances macrophage activation. However, whether ER stress pathways underlie ATM regulation of energy homeostasis remains unclear. Here, we identified inositol-requiring enzyme 1α (IRE1α) as a critical switch governing M1-M2 macrophage polarization and energy balance...
March 27, 2017: Nature Immunology
https://www.readbyqxmd.com/read/28346224/mutant-%C3%AE-2-chimaerin-signals-via-bidirectional-ephrin-pathways-in-duane-retraction-syndrome
#2
Alicia A Nugent, Jong G Park, Yan Wei, Alan P Tenney, Nicole M Gilette, Michelle M DeLisle, Wai-Man Chan, Long Cheng, Elizabeth C Engle
Duane retraction syndrome (DRS) is the most common form of congenital paralytic strabismus in humans and can result from α2-chimaerin (CHN1) missense mutations. We report a knockin α2-chimaerin mouse (Chn1KI/KI) that models DRS. Whole embryo imaging of Chn1KI/KI mice revealed stalled abducens nerve growth and selective trochlear and first cervical spinal nerve guidance abnormalities. Stalled abducens nerve bundles did not reach the orbit, resulting in secondary aberrant misinnervation of the lateral rectus muscle by the oculomotor nerve...
March 27, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28345573/clinical-correlation-of-imaging-findings-in-congenital-cranial-dysinnervation-disorders-involving-abducens-nerve
#3
Chanchal Gupta, Pradeep Sharma, Rohit Saxena, Ajay Garg, Sanjay Sharma
PURPOSE: High-resolution magnetic resonance imaging (MRI) of intracranial parts of sixth nerve and seventh nerve and the extraocular muscles (EOMs) in orbit to correlate the clinical characteristics in patients with two special forms of strabismus in congenital cranial dysinnervation disorders which are Duane's retraction syndrome (DRS) and Mobius syndrome. MATERIALS AND METHODS: Morphological analysis by 3T MRI of orbit (using surface coils) and brain (using 32 channel head coil) was performed on 6 patients with clinical DRS (1 bilateral), 2 cases with Mobius syndrome, and 1 case with congenital sixth nerve palsy...
February 2017: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/28331524/the-effect-of-tong-xie-yao-fang-on-intestinal-mucosal-mast-cells-in-postinfectious-irritable-bowel-syndrome-rats
#4
Xiangxue Ma, Xiaoge Wang, Nan Kang, Ting Chen, Haijie Ji, Lin Lv, Xiaolan Yin, Yaxin Tian, Rui Zheng, Yuanzhi Duan, Fengyun Wang, Xudong Tang
Objective. To investigate the effects of Tong-Xie-Yao-Fang (TXYF) on intestinal mucosal mast cells in rats with postinfectious irritable bowel syndrome (PI-IBS). Design. PI-IBS rat models were established using a multistimulation paradigm. Then, rats were treated with TXYF intragastrically at doses of 2.5, 5.0, and 10.0 g·kg(-1)·d(-1) for 14 days, respectively. Intestinal sensitivity was assessed based on abdominal withdrawal reflex (AWR) scores and fecal water content (FWC). Mast cell counts and the immunofluorescence of tryptase and c-Fos in intestinal mucosa were measured; and serum IL-1β, TNF-α, and histamine levels were determined...
2017: Evidence-based Complementary and Alternative Medicine: ECAM
https://www.readbyqxmd.com/read/28323788/traumatic-colon-injury-in-damage-control-laparotomy-a-multicenter-trial-is-it-safe-to-do-a-delayed-anastomosis
#5
Leah Carey 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 Bruce 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 multicenter retrospective cohort study was performed across three Level I trauma centers encompassing traumatic colon injuries from January 2006 through June 2014...
April 2017: Journal of Trauma and Acute Care Surgery
https://www.readbyqxmd.com/read/28280295/clinical-presentation-and-management-of-congenital-ptosis
#6
REVIEW
Marco Marenco, Ilaria Macchi, Iacopo Macchi, Emilio Galassi, Mina Massaro-Giordano, Alessandro Lambiase
Congenital ptosis is a rare condition characterized by lower positioning of the upper eyelid that is present at birth and is a clinical condition that is persistent if not treated. It may be unilateral or bilateral and may be associated with other ocular disorders or systemic conditions, including Marcus Gunn, Horner, and Duane syndromes. It is a benign condition but causes functional, cosmetic, and psychological problems in children. However, not all patients need to undergo surgery, and usually only patients at risk of amblyopia need a prompt surgical correction, while in other cases, surgery can be postponed...
2017: Clinical Ophthalmology
https://www.readbyqxmd.com/read/28275113/potential-mechanisms-of-effects-of-serum-derived-bovine-immunoglobulin-protein-isolate-therapy-in-patients-with-diarrhea-predominant-irritable-bowel-syndrome
#7
Nelson Valentin, Michael Camilleri, Paula Carlson, Sean C Harrington, Deborah Eckert, Jessica O'Neill, Duane Burton, Jun Chen, Audrey L Shaw, Andres Acosta
Serum-derived bovine immunoglobulin/protein isolate (SBI), an oral nutritional therapy, is efficacious in diverse diarrheal diseases. In an open-label study in 15 patients with irritable bowel syndrome-diarrhea (IBS-D), we evaluated effects of SBI (5.0 g, twice a day) for 8 weeks on safety, on bowel function and abdominal pain, tryptophan metabolism (K:T ratio), intestinal permeability ((13)C-mannitol and lactulose excretion), bile acid synthesis (fasting serum FGF-19 and C4), duodenal and stool microbiome, and the expression of 90 genes related to inflammation, immune function, and tight junctions in duodenal mucosa...
March 2017: Physiological Reports
https://www.readbyqxmd.com/read/28251096/a-case-of-9p-deletion-syndrome-with-congenital-infantile-glaucoma-effective-method-of-diagnosis-and-treatment
#8
Xu Jia, Xu-Yang Liu, Xuan-Chu Duan
No abstract text is available yet for this article.
2017: International Journal of Ophthalmology
https://www.readbyqxmd.com/read/28243196/abnormal-spontaneous-brain-activity-in-women-with-premenstrual-syndrome-revealed-by-regional-homogeneity
#9
Hai Liao, Yong Pang, Peng Liu, Huimei Liu, Gaoxiong Duan, Yanfei Liu, Lijun Tang, Jien Tao, Danhong Wen, Shasha Li, Lingyan Liang, Demao Deng
Background: Previous studies have revealed that the etiologies of premenstrual syndrome (PMS) refer to menstrual cycle related brain changes. However, its intrinsic neural mechanism is still unclear. The aim of the present study was to assess abnormal spontaneous brain activity and to explicate the intricate neural mechanism of PMS using resting state functional magnetic resonance imaging (RS-fMRI). Materials and Methods: The data of 20 PMS patients (PMS group) and 21 healthy controls (HC group) were analyzed by regional homogeneity (ReHo) method during the late luteal phase of menstrual cycle...
2017: Frontiers in Human Neuroscience
https://www.readbyqxmd.com/read/28207821/relationship-of-work-family-conflict-self-reported-social-support-and-job-satisfaction-to-burnout-syndrome-among-medical-workers-in-southwest-china-a-cross-sectional-study
#10
Shujuan Yang, Danping Liu, Hongbo Liu, Juying Zhang, Zhanqi Duan
BACKGROUND: Burnout is a psychosomatic syndrome widely observed in Chinese medical workers due to the increasing cost of medical treatment, excessive workload, and excessive prescribing behavior. No studies have evaluated the interrelationship among occupational burnout, work-family conflict, social support, and job satisfaction in medical workers. The aim of this study was to evaluate these relationships among medical workers in southwest China. METHODS: This cross-sectional study was conducted between March 2013 and December 2013, and was based on the fifth National Health Service Survey (NHSS)...
2017: PloS One
https://www.readbyqxmd.com/read/28203549/microbiological-and-clinical-characteristics-of-hypermucoviscous-klebsiella-pneumoniae-isolates-associated-with-invasive-infections-in-china
#11
Yinjuan Guo, Shanshan Wang, Lingling Zhan, Ye Jin, Jingjing Duan, Zhihao Hao, Jingnan Lv, Xiuqin Qi, Liang Chen, Barry N Kreiswirth, Liangxing Wang, Fangyou Yu
A distinctive syndrome caused by hypermucoviscous Klebsiella pneumoniae (HMKP) including pyogenic liver abscess (PLA) is now becoming a globally emerging disease. In the present study, 22.8% (84/369) of K. pneumoniae clinical isolates associated with various types of invasive infections were identified as HMKP, with 45.2% associated with PLA. Multivariate regression analysis showed that male patients with 41-50 years, PLA, diabetes mellitus, and hypertension were independent risk factors for HMKP infections...
2017: Frontiers in Cellular and Infection Microbiology
https://www.readbyqxmd.com/read/28184033/extracorporeal-membrane-oxygenation-outcomes-in-acute-respiratory-distress-treatment-case-study-in-a-chinese-referral-center
#12
Lei Huang, Tong Li, Lei Xu, Xiao-Min Hu, Da-Wei Duan, Zhi-Bo Li, Xin-Jing Gao, Jun Li, Peng Wu, Ying-Wu Liu
BACKGROUND No definitive conclusions have been drawn from the available data about the utilization of extracorporeal membrane oxygenation (ECMO) to treat severe acute respiratory distress syndrome (ARDS). The aim of this study was to review our center's experience with ECMO and determine predictors of outcome from our Chinese center. MATERIAL AND METHODS We retrospectively analyzed a total of 23 consecutive candidates who fulfilled the study entry criteria between January 2009 and December 2015. Detailed clinical data, ECMO flow, and respiratory parameters before and after the introduction of ECMO were compared among in-hospital survivors and nonsurvivors; factors associated with mortality were investigated...
February 10, 2017: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
https://www.readbyqxmd.com/read/28135823/canada-acute-coronary-syndrome-score
#13
Yuan-Hui Liu, Lei Jiang, Chong-Yang Duan, Peng-Cheng He, Yong Liu, Ning Tan, Ji-Yan Chen
In patients with ST-segment elevation myocardial infarction (STEMI) undergoing primary percutaneous coronary intervention, contrast-induced nephropathy (CIN) is a serious complication associated with poor outcomes. We assessed the predictive value of the Canada Acute Coronary Syndrome (C-ACS) score for CIN in these patients. A total of 394 consecutive patients with STEMI were enrolled and divided into 3 groups according to their C-ACS scores-group 1, score 0; group 2, score 1; and group 3, score ≥2. The clinical outcomes were CIN and major adverse clinical events (MACEs) during hospital and follow-up; 8...
January 1, 2017: Angiology
https://www.readbyqxmd.com/read/28110515/missense-variant-in-uba2-associated-with-aplasia-cutis-congenita-duane-anomaly-hip-dysplasia-and-other-anomalies-a-possible-new-disorder-involving-the-sumoylation-pathway
#14
Michael Marble, Maria J Guillen Sacoto, Rashmi Chikarmane, Dominic Gargiulo, Jane Juusola
We report a patient with aplasia cutis congenita, Duane anomaly, hip dysplasia, and other anomalies who had a de novo missense variant in UBA2, which encodes for a protein involved in the SUMOylation pathway. It has previously been suggested that UBA2 haploinsufficiency underlies scalp defects in the 19q13.11 deletion syndrome. We propose that disturbance of the SUMOylation pathway, mediated by pathogenic variants in UBA2, is a novel mechanism for aplasia cutis congenita and other phenotypic abnormalities. © 2016 Wiley Periodicals, Inc...
January 22, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28106075/phosphatidylinositol-3-4-bisphosphate-regulates-neurite-initiation-and-dendrite-morphogenesis-via-actin-aggregation
#15
Shu-Xin Zhang, Li-Hui Duan, Shun-Ji He, Gui-Feng Zhuang, Xiang Yu
Neurite initiation is critical for neuronal morphogenesis and early neural circuit development. Recent studies showed that local actin aggregation underneath the cell membrane determined the site of neurite initiation. An immediately arising question is what signaling mechanism initiated actin aggregation. Here we demonstrate that local clustering of phosphatidylinositol 3,4-bisphosphate (PI(3,4)P2), a phospholipid with relatively few known signaling functions, is necessary and sufficient for aggregating actin and promoting neuritogenesis...
February 2017: Cell Research
https://www.readbyqxmd.com/read/28100909/impact-of-pretransplant-induction-therapy-on-autologous-stem-cell-transplantation-for-patients-with-newly-diagnosed-poems-syndrome
#16
J Li, M-H Duan, C Wang, X-F Huang, W Zhang, X-X Cao, T-N Zhu, J-L Zhuang, B Han, H Cai, H-C Cai, D-B Zhou
POEMS syndrome (polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy and skin changes) is a rare plasma cell dyscrasia sometimes treated with a haematopoietic cell autotransplant. We analyzed data from 138 subjects with newly diagnosed POEMS syndrome receiving a autotransplant at our center. Thirty-two subjects with severe end-organ dysfunction ineligible for immediate autotransplant received pretransplant therapy, which made a subsequent autotransplant feasible. Pretransplant therapy resulted in vascular endothelial growth factor (VEGF) remissions in 15 (47%)...
February 14, 2017: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
https://www.readbyqxmd.com/read/28088968/-para-neoplastic-autoimmune-multi-organ-syndrome-associated-with-follicular-lymphoma-a-case-report-and-literature-review
#17
D Chen, C Y Lin, X Han, B Chen, Z H Lu, X Y Chang, M H Duan
Objective: To broaden our knowledge of para-neoplastic autoimmune multi-organ syndrome (PAMS). Methods: A patient with PAMS associated with follicular lymphoma and bronchiolitis obliterans treated in our hospital was retrospectively analyzed and the clinical features of PAMS were reviewed. Results: A 49-year-old female patient suffered from painful ulcers in the oral cavity and vagina, dry cough and dyspnea. Imaging examinations suggested multiple lymph node enlargements. Inguinal lymph node biopsy revealed follicular lymphoma...
December 14, 2016: Zhonghua Xue Ye Xue za Zhi, Zhonghua Xueyexue Zazhi
https://www.readbyqxmd.com/read/28074863/herb-pair-danggui-honghua-mechanisms-underlying-blood-stasis-syndrome-by-system-pharmacology-approach
#18
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
#19
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
#20
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
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