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Duane syndrome

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
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
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
Latisha Love-Gregory, Aldi T Kraja, Fiona Allum, Stella Aslibekyan, Åsa K Hedman, Yanan Duan, Ingrid B Borecki, Donna K Arnett, Mark I McCarthy, Panos Deloukas, Jose M Ordovas, Paul N Hopkins, Elin Grundberg, Nada A Abumrad
CD36 variants influence fasting lipids and risk of metabolic syndrome, but their impact on postprandial lipids, an independent risk factor for cardiovascular disease, is unclear. We determined effects of SNPs within a ~410-kb region encompassing CD36 and its proximal and distal promoters on chylomicron remnants (CM) and LDL particles at fasting, 3.5 and 6 hours following a high-fat meal (GOLDN study, n=1117). Five promoter variants associated with CM, four with delayed triglyceride clearance and five with LDL particle number...
October 11, 2016: Journal of Lipid Research
Na Duan, Xiao Chen, Yongkang Liu, Jianhua Wang, Zhongqiu Wang
Synovitis, acne, palmoplantar pustulosis, hyperostosis and osteitis syndrome (SAPHO) is a rare syndrome that affects the skin, bones and joints. Diagnosis of SAPHO syndrome is established on clinical appearance and imaging features. The present case report described the imaging features of three cases of SAPHO with sternoclavicular joint arthritis but without skin manifestations using multiple imaging modalities, including computed tomography (CT), magnetic resonance imaging (MRI) and bone scintigraphy. The first case was a 52-year-old male who suffered from progressive sternoclavicular arthritis for 2 years...
October 2016: Experimental and Therapeutic Medicine
Arif O Khan, Jameela M Shinwari, Nada A Al-Tassan
No abstract text is available yet for this article.
September 20, 2016: Journal of AAPOS: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
E Ullah, D Wu, L Madireddy, R Lao, P Ling-Fung Tang, E Wan, T Bardakjian, S Kopinsky, P-Y Kwok, A Schneider, S Baranzini, M Ansar, A Slavotinek
To investigate the genetic etiology of anophthalmia and microphthalmia, we used exome sequencing in a Caucasian female with unilateral microphthalmia and coloboma, bilateral optic nerve hypoplasia, ventricular and atrial septal defects, and growth delays. We found two sequence variants in SALL4 - c.[575C>A], predicting p.(Ala192Glu), that was paternally inherited, and c.[2053G>C], predicting p.(Asp685His), that was maternally inherited. Haploinsufficiency for SALL4 due to nonsense or frameshift mutations has been associated with acro-renal ocular syndrome that is characterized by eye defects including Duane anomaly and coloboma, in addition to radial ray malformations and renal abnormalities...
September 23, 2016: Ophthalmic Genetics
Khaled K Abu-Amero, Arif O Khan, Darren T Oystreck, Altaf A Kondkar, Thomas M Bosley
PURPOSE: To assess the importance of monogenic mutations and chromosomal copy number variants (CNVs) in the occurrence of nonsyndromic bilateral Duane retraction syndrome (bilateral nsDRS). METHODS: The medical records of 12 patients with bilateral nsDRS were reviewed. Genes associated with DRS and associated congenital cranial dysinnervation disorders (SALL4, CHN1, HOXA1, TUBB3, and KIF21A) were sequenced in the standard fashion in each patient. Array comparative genomic hybridization (array CGH) was performed using Affymetrix Cytogenetics Whole-Genome 2...
September 20, 2016: Journal of AAPOS: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
Hongjun Zhao, Lijuan Zhao, Wei Shi, Hui Luo, Liping Duan, Yunhui You, Yisha Li, Xiaoxia Zuo
INTRODUCTION: Bowel-associated dermatosis-arthritis syndrome is rare systemic diseases characterized by a prodrome of fever, chills, and influenza-like symptoms with subsequent skin eruptions, myalgias, and polyarthralgias. It is reported to be occurred in Intestinal bypass surgery and inflammatory bowel disease. CASE DESCRIPTION: Herein, we described a 29-years-old man with Bowel-associated dermatosis-arthritis syndrome. He had no history of gastrointestinal surgery and inflammatory bowel disease...
2016: SpringerPlus
Danqing Hu, Zhengxing Huang, Tak-Ming Chan, Wei Dong, Xudong Lu, Huilong Duan
Background: Clinical major adverse cardiovascular event (MACE) prediction of acute coronary syndrome (ACS) is important for a number of applications including physician decision support, quality of care assessment, and efficient healthcare service delivery on ACS patients. Admission records, as typical media to contain clinical information of patients at the early stage of their hospitalizations, provide significant potential to be explored for MACE prediction in a proactive manner. Methods: We propose a hybrid approach for MACE prediction by utilizing a large volume of admission records...
2016: International Journal of Environmental Research and Public Health
Forest W Weir, Kathryn L Kreicher, Jonathan L Hatch, Shaun A Nguyen, Ted A Meyer
OBJECTIVE: The focus of this study was to evaluate the prevalence, type, and severity of hearing impairment in patients with Duane's Retraction Syndrome and to relate these measures to patient demographics and other otologic and audiologic factors. STUDY DESIGN: Retrospective AudGen Database analysis SETTING: Tertiary academic referral center PATIENTS: Pediatric patients in AudGenDB with a diagnosis of Duane's Retraction Syndrome (DRS)...
October 2016: International Journal of Pediatric Otorhinolaryngology
Guangxin Duan, Jiaping Xu, Jijun Shi, Yongjun Cao
Bow hunter's syndrome (BHS), also known as rotational vertebral artery (VA) occlusion syndrome, is a rare yet treatable type of symptomatic vertebrobasilar insufficiency resulting from mechanical occlusion or stenosis of the VA during head and neck rotation or extension. The symptoms of BHS range from transient vertigo to posterior circulation stroke. The underlying pathology is dynamic stenosis or compression of the VA by abnormal bony structures with neck rotation or extension in many cases, such as osteophyte, disc herniation, cervical spondylosis, tendinous bands or tumors...
June 2016: Interventional Neurology
Bjorn R Olsen, Agnes D Berendsen, Tatiana Y Besschetnova, Xuchen Duan, Kai Hu
Studies of proliferative hemangiomas have led to the discovery that interactions of endothelial cells with extracellular matrix and/or Vascular Endothelial Growth Factor (VEGF)-A stimulate the expression of VEGFR1, the VEGF decoy receptor, and suppress VEGF-dependent VEGFR2 signalling by a mechanism that requires the matrix-binding receptor Anthrax Toxin Receptor (ANTXR)1, VEGFR2, β1 integrin and the Nuclear Factor of Activated T cells (NFAT). In hemangioma endothelial cells, all these components are present, but are functionally compromised, so that the levels of VEGFR1 are extremely low and VEGFR2 signalling is constitutively active...
August 2016: International Journal of Experimental Pathology
Ranhui Duan, Shiyu Luo, Wen Huang, Haoxian Li, Ying Peng, Qian Du, Lingqian Wu
OBJECTIVE: To study the pattern of CGG repeat instability within germline cells derived from two male fetuses affected with Fragile X syndrome (FXS). METHODS: The length and methylation status of CGG repeats within the testes of a fetus carrying a full FXS mutation and another fetus carrying mosaicism FXS mutation were analyzed with Southern blotting and AmplideX FMR1 PCR. Immunohistochemistry was also applied for the measurement of FMR1 protein (FMRP) expression within the testes...
October 2016: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
Ramesh Kekunnaya, Ruby Moharana, Shailja Tibrewal, Preeti-Patil Chhablani, Virender Sachdeva
Strabismus in Duane retraction syndrome is frequently associated with significant globe retraction and overshoots. However, there is no method to objectively grade retraction and overshoot. Our purpose is to describe a novel objective grading method. This novel and simple grading method has excellent agreement. It will help standardise measurements and guide the clinician in taking the decision for surgery and predicting its outcome.
August 29, 2016: British Journal of Ophthalmology
Jiu Chen, Hao Shu, Zan Wang, Yafeng Zhan, Duan Liu, Wenxiang Liao, Lin Xu, Yong Liu, Zhijun Zhang
INTRODUCTION: Both remitted late-life depression (rLLD) and amnesiac mild cognitive impairment (aMCI) alter brain functions in specific regions of the brain. They are also disconnection syndromes that are associated with a high risk of developing Alzheimer's disease (AD). OBJECTIVES: Resting-state functional connectivity magnetic resonance imaging (rs-fcMRI) was performed to define the shared and distinct aberrant patterns in intranetwork and internetwork connectivity between rLLD and aMCI and to determine how knowledge of these differences might contribute to our essential understanding of the altered sequences involved in functional systems both inside and outside of resting-state networks...
October 2016: Cortex; a Journal Devoted to the Study of the Nervous System and Behavior
Breton M Asken, Molly J Sullan, Aliyah R Snyder, Zachary M Houck, Vaughn E Bryant, Loren P Hizel, Molly E McLaren, Duane E Dede, Michael S Jaffee, Steven T DeKosky, Russell M Bauer
Chronic traumatic encephalopathy (CTE) is a neuropathologically defined disease reportedly linked to a history of repetitive brain trauma. As such, retired collision sport athletes are likely at heightened risk for developing CTE. Researchers have described distinct pathological features of CTE as well a wide range of clinical symptom presentations, recently termed traumatic encephalopathy syndrome (TES). These clinical symptoms are highly variable, non-specific to individuals described as having CTE pathology in case reports, and are often associated with many other factors...
August 25, 2016: Neuropsychology Review
Mohammad Ali Zare, Mohammad Reza Akbari, Mohammad Yaser Kiarudi, Hadi Zare Mehrjardi
Duane's retraction syndrome (DRS) is characterized by limitations in horizontal eye movements, globe retraction, and palpebral fissure narrowing on attempted adduction. This disorder is caused by a disturbance in innervation originating in the brain stem and represents <1% of all cases of strabismus. It is postulated that this syndrome is due to an insult during the early weeks (8-10 weeks) of pregnancy and is 10-20 times more frequently associated with other systemic congenital anomalies. This case report of bilateral DRS included bilateral iris-retinal coloboma and congenital heart disease, sensory hearing loss, and inguinal hernia...
July 2016: Middle East African Journal of Ophthalmology
Daniel T Meehan, Duane Delimont, Brianna Dufek, Marisa Zallocchi, Grady Phillips, Michael Anne Gratton, Dominic Cosgrove
Alport syndrome, a type IV collagen disorder, manifests as glomerular disease associated with hearing loss with thickening of the glomerular and strial capillary basement membranes (SCBMs). We have identified a role for endothelin-1 (ET-1) activation of endothelin A receptors (ETARs) in glomerular pathogenesis. Here we explore whether ET-1 plays a role in strial pathology. Wild type (WT) and Alport mice were treated with the ETAR antagonist, sitaxentan. The stria vascularis was analyzed for SCBM thickness and for extracellular matrix (ECM) proteins...
August 21, 2016: Hearing Research
P Merino, P Gómez de Liaño, Y Ah Kim
CLINICAL CASE: A patient diagnosed with Duane syndrome underwent an augmented superior rectus transposition (SRT) to lateral rectus (LR) and medial rectus (MR) recession. Vertical, torsional deviation and diplopia were observed post-operatively. Removal of the Foster suture and superior rectus recession resolved the symptoms. DISCUSSION: SRT to LR is proposed in Duane syndrome with a favorable outcome. The benefit of SRT is open to debate. It could be an alternative for the vertical rectus transposition when MR recession has to be operated on in the same procedure, or in the immediate post-operative period, in order to decrease the risk of anterior segment ischaemia...
August 16, 2016: Archivos de la Sociedad Española de Oftalmología
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