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Duane syndrome

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https://www.readbyqxmd.com/read/29299740/augmented-superior-rectus-transposition-procedure-in-duane-retraction-syndrome-compared-with-sixth-nerve-palsy
#1
Mohammadreza Akbari, Setareh Shomali, Arash Mirmohammadsadeghi, Masoud Aghsaei Fard
PURPOSE: Superior rectus transposition (SRT) with medial rectus recession has been used for the treatment of sixth nerve palsy and esotropic Duane retraction syndrome (DRS). The purpose of this study was to compare the results of augmented SRT (with scleral fixation) without medial rectus recession in DRS and sixth nerve palsy. METHODS: Patients with unilateral esotropic DRS (DRS group) and sixth nerve palsy were included in this prospective, comparative study and underwent SRT...
January 3, 2018: Graefe's Archive for Clinical and Experimental Ophthalmology
https://www.readbyqxmd.com/read/29260367/larger-volume-and-different-functional-connectivity-of-the-amygdala-in-women-with-premenstrual-syndrome
#2
Demao Deng, Yong Pang, Gaoxiong Duan, Huimei Liu, Hai Liao, Peng Liu, Yanfei Liu, Shasha Li, Wenfu Chen, Danhong Wen, Chunmei Xuan, Min Li
OBJECTIVES: To assess structural and functional changes of the amygdala due to premenstrual syndrome (PMS) using magnetic resonance imaging (MRI). METHODS: Twenty PMS patients and 21 healthy control (HC) subjects underwent a 6-min resting-state fMRI scan during the luteal phase as well as scanning high-resolution T1-weighted images. Subcortical amygdala-related volume and functional connectivity (FC) were estimated between the two groups. Each subject completed a daily record of severity of problems (DRSP) to measure the severity of clinical symptoms...
December 19, 2017: European Radiology
https://www.readbyqxmd.com/read/29259781/fragile-x-syndrome-and-fragile-x-associated-disorders
#3
REVIEW
Akash Rajaratnam, Jasdeep Shergill, Maria Salcedo-Arellano, Wilmar Saldarriaga, Xianlai Duan, Randi Hagerman
Fragile X syndrome (FXS) is caused by a full mutation on the FMR1 gene and a subsequent lack of FMRP, the protein product of FMR1. FMRP plays a key role in regulating the translation of many proteins involved in maintaining neuronal synaptic connections; its deficiency may result in a range of intellectual disabilities, social deficits, psychiatric problems, and dysmorphic physical features. A range of clinical involvement is also associated with the FMR1 premutation, including fragile X-associated tremor ataxia syndrome, fragile X-associated primary ovarian insufficiency, psychiatric problems, hypertension, migraines, and autoimmune problems...
2017: F1000Research
https://www.readbyqxmd.com/read/29199032/surgical-outcome-of-superior-rectus-transposition-in-esotropic-duane-syndrome-and-abducens-nerve-palsy
#4
Rohit Agarwal, Medha Sharma, Rohit Saxena, Pradeep Sharma
PURPOSE: To evaluate surgical outcome of superior rectus transposition (SRT) in esotropic Duane syndrome (DS) and abducens nerve palsy. METHODS: Retrospective medical record analysis of all patients with esotropic DS and abducens nerve palsy treated with SRT at our center with minimum follow-up of 6 months. Primary outcome measures were esotropia in primary position and abduction limitation. Secondary outcome measures included head turn, stereopsis, and cyclovertical deviations...
November 30, 2017: Journal of AAPOS: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/29156061/bilateral-superior-rectus-transposition-with-bilateral-medial-rectus-recession-for-m%C3%A3-bius-syndrome
#5
Yuxi Zheng, Sean P Donahue
Bilateral superior rectus transposition with bilateral medial rectus recession has been described successfully for treatment of Duane's syndrome but never for Möbius syndrome. The authors describe a child with Möbius syndrome who presented with large bilateral abduction deficits and esotropia. This surgical treatment resulted in marked improvement of said deficits. [J Pediatr Ophthalmol Strabismus. 2017;54:e81-e82.].
November 17, 2017: Journal of Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/29151369/fruit-and-vegetable-consumption-and-risk-of-the-metabolic-syndrome-a-meta-analysis
#6
Yue Tian, Lijun Su, Jiantao Wang, Xiaolin Duan, Xiubo Jiang
OBJECTIVE: Several epidemiological studies have been performed to evaluate the association of fruit and vegetable consumption with risk of the metabolic syndrome (MetS), but the results remain controversial. Thus, we conducted a systematic meta-analysis to assess the associations of fruit or/and vegetable consumption with risk of MetS, separately. DESIGN: We searched PubMed, EMBASE and Web of Science databases up to July 2017 for relevant available articles. Pooled OR with 95 % CI were calculated with the fixed- or random-effects model...
November 20, 2017: Public Health Nutrition
https://www.readbyqxmd.com/read/29135308/anomalous-lateral-rectus-muscle-band-in-a-case-of-duane-retraction-syndrome
#7
Suma Ganesh, Shailja Tibrewal, Abhijeet Yadav, Sumita Sethi
Anomalous orbital structures are suspected in restrictive strabismus with features of severe globe retractions, overshoots, or synergistic movements. We report a case of suspected Duane syndrome that was found to have an anomalous band beneath the lateral rectus muscle. Such abnormal structures are rare, but it is important to identify and manage them to optimize outcomes.
November 14, 2017: Strabismus
https://www.readbyqxmd.com/read/29133973/duane-retraction-syndrome-causes-effects-and-management-strategies
#8
REVIEW
Ramesh Kekunnaya, Mithila Negalur
Duane retraction syndrome (DRS) is a congenital eye movement anomaly characterized by variable horizontal duction deficits, with narrowing of the palpebral fissure and globe retraction on attempted adduction, occasionally accompanied by upshoot or down-shoot. The etiopathogenesis of this condition can be explained by a spectrum of mechanical, innervational, neurologic and genetic abnormalities occurring independently or which influence each other giving rise to patterns of clinical presentations along with a complex set of ocular and systemic anomalies...
2017: Clinical Ophthalmology
https://www.readbyqxmd.com/read/29107795/gustatory-lid-retraction-an-unusual-congenital-cranial-dysinnervation-disorder
#9
Arif O Khan, Zabila Khan
Congenital cranial dysinnervation disorders are developmental abnormalities of cranial nerves that often include abnormal synkinesis. Among the most common ophthalmic congenital cranial dysinnervation disorders are Duane retraction syndrome and the Marcus-Gunn jaw-winking phenomenon. This report documents gustatory lid retraction as an unusual congenital cranial dysinnervation.
December 2017: Journal of AAPOS: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/29096750/clinical-efficacy-and-mechanism-of-lymphoplasma-exchange-in-the-treatment-of-guillain-barre-syndrome
#10
M-C Luo, W-F Wang, W-F Yin, Y Li, B-J Li, W-W Duan, Q-M Zeng, Y-B Luo, X-S Yang, H Yang
Guillain-Barre syndrome (GBS) is an autoimmune disease of the nervous system and is the most common acute polyneuropathy. Both cellular and humoral immunity are believed to be involved in the pathogenesis of GBS, and various types of activated CD4+ T cells are thought to orchestrate the onset and progression of GBS. Lymphoplasma exchange (LPE) filtering out activated lymphocytes while exchanging plasma has been used for GBS treatment for years. However the treatment is still not yet optimal. In order to assess the efficacy of this treatment, we evaluate the effect of LPE and determine the appropriate frequency of LPE treatments for GBS patients through comparing the neurological deficit scores and the changes in related immunology indicators of GBS patients before and after LPE treatment...
October 31, 2017: Cellular and Molecular Biology
https://www.readbyqxmd.com/read/29094256/efficacy-of-dexamethasone-suppression-test-during-the-diagnosis-of-primary-pigmented-nodular-adrenocortical-disease-in-chinese-adrenocorticotropic-hormone-independent-cushing-syndrome
#11
Shi Chen, Ran Li, Lin Lu, Lian Duan, Xuebin Zhang, Anli Tong, Hui Pan, Huijuan Zhu, Zhaolin Lu
OBJECTIVE: To evaluate the cut-off value of the ratio of 24 h urinary free cortisol (24 h UFC) levels post-dexamethasone to prior-dexamethasone in dexamethasone suppression test (DST) during the diagnosis of primary pigmented nodular adrenocortical disease in Chinese adrenocorticotropic hormone-independent Cushing syndrome. DESIGN: Retrospective study. PARTICIPANTS: The patients diagnosed with primary pigmented nodular adrenocortical disease (PPNAD, n = 25), bilateral macronodular adrenal hyperplasia (BMAH, n = 27), and adrenocortical adenoma (ADA, n = 84) were admitted to the Peking Union Medical College Hospital from 2001 to 2016...
November 1, 2017: Endocrine
https://www.readbyqxmd.com/read/29050112/-clinical-pathologic-characteristics-and-treatment-outcomes-of-19-relapsed-pediatric-b-cell-lymphoma
#12
S Huang, L Jin, J Yang, Y L Duan, M Zhang, C J Zhou, X L Ma, Y H Zhang
Objective: To review the clinical-pathology characteristics of 19 relapsed pediatric mature B cell lymphoma and to find the risk factors for recurrence and the feasible treatment after relapse. Method: Data of 212 pediatric B cell lymphomas cases in Beijing Children's Hospital from January 2006 to June 2015 were collected retrospectively. All the patients were treated according to the B cell lymphoma regimen of Beijing Children's Hospital. During the study period, 19 of 212 cases were relapsed; the clinio-pathological characteristics of relapsed patients before treatment and after relapse were analyzed retrospectively, the treatment outcomes after relapse were summarized and the patients were followed-up...
October 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/29050067/-neuropathologic-findings-in-intractable-epilepsy-a-clinicopathologic-analysis-of-822-cases
#13
Z J Duan, K Yao, J Zhou, L Li, F Zhai, C Q Liu, Z Ma, Y Bian, G M Luan, X L Qi
Objective: To investigate the clinicopathologic characteristics of intractable epilepsy. Methods: Based on the classification criteria proposed by the International League Against Epilepsy (ILAE), a retrospective analysis of the pathological characteristics was done in 822 patients who underwent epilepsy surgery in Sanbo Brain Hospital, Capital Medical University, from June 2008 to December 2012. Results: The mean age of epilepsy onset was 9.9 years, mean duration of epilepsy was 11.9 years. Complex partial seizures were the main presenting features...
October 8, 2017: Zhonghua Bing Li Xue za Zhi Chinese Journal of Pathology
https://www.readbyqxmd.com/read/29044089/congenital-sixth-nerve-palsy-with-associated-anomalies
#14
Nirupama Kasturi
Congenital abduction deficit is most likely due to Duane's retraction syndrome as congenital abducens nerve palsy is very rare. We report two cases of infantile abduction deficit due to sixth nerve palsy associated with other anomalies to highlight the importance of including neuroimaging in the evaluation of an infant presenting with a limitation of abduction.
October 2017: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/29036958/-a-clinical-and-hereditary-analysis-of-novel-complex-heterozygous-kcnj1-mutation-in-a-bartter-syndrome-type-%C3%A2-patient
#15
X Y Li, Y Jiang, L J Xu, L Duan, X Y Peng, L M Chen, W B Xia, X P Xing
Bartter syndrome (BS) is a hereditary condition transmitted as an autosomal recessive (Bartter type 1 to 4) or dominant trait (Bartter type 5). The disease associates hypokalemic alkalosis with varying degrees of hypercalciuria. Here we presented a case (BS type Ⅱ) of a 17 years old female presented with polyhydramnios, polyuria, nephrocalcinosis and hypokalemia, which was alleviated after treatment with celecoxib and vitamin D(3). DNA sequencing identified compound heterozygous KCNJ1 gene mutations, c. 931C >T (p...
October 1, 2017: Zhonghua Nei Ke za Zhi [Chinese Journal of Internal Medicine]
https://www.readbyqxmd.com/read/29031989/chn1-gene-mutation-analysis-in-patients-with-duane-s-retraction-syndrome
#16
Elif Demirkilinc Biler, Orhan Ilim, Huseyin Onay, Onder Uretmen
PURPOSE: To investigate CHN1 (chimerin 1) gene mutations in patients with isolated nonsyndromic Duane syndrome and accompanying positive familial history, bilaterality, or various systemic disorders. METHODS: Patients with Duane retraction syndrome (DRS) and a positive family history of congenital ocular motility disturbance or bilateral involvement or accompanying any congenital disorder(s) seen consecutively at a single center from 2013 to 2016 were enrolled. All subjects underwent full ophthalmologic examination, including refraction, best-corrected visual acuity, ocular alignment and motility, globe retraction, and biomicroscopic or fundus evaluation...
October 12, 2017: Journal of AAPOS: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/29027678/evaluation-of-carotid-plaque-neovascularization-in-patients-with-coronary-heart-disease-on-contrast-enhanced-ultrasonography
#17
Chuan Qin, Li Zhang, Xinfang Wang, Yilian Duan, Zhou Ye, Mingxing Xie
OBJECTIVES: To examine the repeatability of quantitative time-intensity curve analysis of neovascularization within carotid plaques with contrast-enhanced ultrasonography (US) and to investigate carotid plaque neovascularization in patients with coronary heart disease using contrast-enhanced US and the correlation between risk factors and acute coronary syndrome (ACS). METHODS: Sixty patients with ACS and 60 with stable coronary artery disease (CAD) underwent conventional carotid and contrast-enhanced US, and plaque enhancement was observed and analyzed quantitatively...
October 13, 2017: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/29018752/y-splitting-with-recession-of-lateral-rectus-versus-lateral-rectus-recession-in-correcting-upshoot-in-duane-retraction-syndrome
#18
Muh-Chiou Lin
PURPOSE: To report the surgical effect in upshoot of Duane retraction syndrome (DRS) with corecession of horizontal rectus muscles with or without Y-splitting. PATIENTS AND METHODS: A retrospective chart review of six patients of DRS received muscle surgeries for upshoot in adducted position was performed. RESULTS: From 1994 to 2010, six Duane patients received muscle surgeries for upshoots of lesion eye in adduction. Their age of receiving surgery ranged from 5 to 41 years...
January 2017: Taiwan Journal of Ophthalmology
https://www.readbyqxmd.com/read/29018747/pearls-and-pitfalls-in-the-management-of-duane-syndrome
#19
REVIEW
Seyhan B Özkan
Duane syndrome (DS) is a common form of congenital cranial dysinnervation disorders. The ocular motility pattern lies in a wide clinical spectrum, and the choice of treatment must be individualized depending on the severity of the clinical findings. There is no perfect method of treatment and no real "cure" in DS. In this paper, the aim is to give some guidelines to the reader for selection of the most appropriate treatment method for the patient.
January 2017: Taiwan Journal of Ophthalmology
https://www.readbyqxmd.com/read/29016863/a-tubb6-mutation-is-associated-with-autosomal-dominant-non-progressive-congenital-facial-palsy-bilateral-ptosis-and-velopharyngeal-dysfunction
#20
Walid Fazeli, Peter Herkenrath, Barbara Stiller, Antje Neugebauer, Julia Fricke, Ruth Lang-Roth, Gudrun Nürnberg, Michaela Thoenes, Jutta Becker, Janine Altmüller, Alexander E Volk, Christian Kubisch, Raoul Heller
Congenital cranial dysinnervation disorders (CCDDs) comprise a heterogeneous spectrum of diseases characterized by congenital, non-progressive impairment of eye, eyelid and/or facial movements including Möbius syndrome, Duane retraction syndrome, congenital ptosis, and congenital fibrosis of the extraocular muscles. Over the last 20 years, several CCDDs have been identified as neurodevelopmental disorders that are caused by mutations of genes involved in brain and cranial nerve development, e.g. KIF21A and TUBB3 that each plays a pivotal role for microtubule function...
October 15, 2017: Human Molecular Genetics
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