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Duane syndrome

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https://www.readbyqxmd.com/read/29135308/anomalous-lateral-rectus-muscle-band-in-a-case-of-duane-retraction-syndrome
#1
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
#2
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
#3
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.
October 28, 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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
https://www.readbyqxmd.com/read/28991345/the-efficacy-of-bilateral-lateral-rectus-recession-according-to-secondary-deviation-measurements-in-unilateral-exotropic-duane-retraction-syndrome
#15
Daphna Mezad-Koursh, Ari Leshno, Ainat Klein, Chaim Stolovich
PURPOSE: To evaluate the surgical results of asymmetric bilateral lateral rectus recession in exotropic Duane retraction syndrome with abnormal face turn toward the opposite side according to secondary deviation measurements. METHODS: Retrospective chart review. RESULTS: Seven cases of unilateral exotropic Duane retraction syndrome were reviewed. All cases had globe retraction on adduction and exotropia with limited adduction, five of which also had mild limitation of abduction...
October 9, 2017: Journal of Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/28968807/chymase-is-a-predictive-biomarker-of-dengue-hemorrhagic-fever-in-pediatric-and-adult-patients
#16
Hasitha Tissera, Abhay P S Rathore, Wei Yee Leong, Brian L Pike, Tyler E Warkentien, Farouk S Farouk, Ayesa Syenina, Eng Eong Ooi, Duane J Gubler, Annelies Wilder-Smith, Ashley L St John
Background: Most dengue patients experience mild disease, dengue fever (DF), while few develop life-threatening severe disease, or dengue hemorrhagic fever/dengue shock syndrome (DHF/DSS). No laboratory tests predict DHF/DSS. We evaluated whether serum chymase can predict DHF/DSS in adult and pediatric patients and the influence of pre-existing conditions (PECs) on chymase levels. Methods: Serum chymase levels were measured in patients presenting with undifferentiated fever to hospitals in Colombo District, Sri Lanka...
August 25, 2017: Journal of Infectious Diseases
https://www.readbyqxmd.com/read/28944914/gene-screening-facilitates-diagnosis-of-complicated-symptoms-a-case-report
#17
Hong Duan, Di Zhang, Jing Cheng, Yu Lu, Huijun Yuan
Gene mutation has an important role in disease pathogenesis; therefore, genetic screening is a useful tool for diagnosis. The present study screened pathogenic genes, ectodysplasin A (EDA) and lamin A/C (LMNA), in a patient with suspected syndromic hearing impairment and various other symptoms including tooth and skin abnormalities. Large‑scale sequencing of 438 deafness‑associated genes and whole‑genome sequencing was also performed. The present findings did not identify copy number variation and mutations in EDA; therefore, excluding the possibility of EDA‑initiated ectodermal dysplasia syndrome...
December 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28927162/myelodysplastic-syndrome-unclassifiable-mds-u-with-1-blasts-is-a-distinct-subgroup-of-mds-u-with-a-poor-prognosis
#18
Elizabeth Margolskee, Robert P Hasserjian, Duane Hassane, Wayne Tam, Susan Mathew, Chi Young Ok, Sa A Wang, Jean Oak, Daniel A Arber, Attilio Orazi
Objectives: Three situations qualify as myelodysplastic syndrome, unclassifiable (MDS-U): (1) refractory cytopenia with dysplasia and 1% blasts in peripheral blood (BL), (2) pancytopenia with unilineage dysplasia (Pan), and (3) persistent cytopenia, less than 5% bone marrow blasts, and less than 10% dysplastic cells and presence of MDS-defining cytogenetic abnormalities (CG). We compared the clinicopathologic features and mutational profiles for these three groups. Methods: MDS-U cases were reviewed at four major academic institutions...
July 1, 2017: American Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28918207/the-association-between-cardiac-physiology-acquired-brain-injury-and-postnatal-brain-growth-in-critical-congenital-heart-disease
#19
Shabnam Peyvandi, Hosung Kim, Joanne Lau, A James Barkovich, Andrew Campbell, Steven Miller, Duan Xu, Patrick McQuillen
OBJECTIVE: To assess the trajectory of perioperative brain growth in relationship to cardiac diagnosis and acquired brain injuries. METHODS: This was a cohort study of term neonates with hypoplastic left heart syndrome (HLHS) and transposition of the great arteries (TGA). Subjects underwent magnetic resonance imaging of the brain pre- and postoperatively to determine the severity of brain injury and total and regional brain volumes by the use of automated morphometry...
August 24, 2017: Journal of Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/28910146/management-of-ards-and-refractory-hypoxemia-a-multicenter-observational-study
#20
Erick H Duan, Neill Kj Adhikari, Frederick D'Aragon, Deborah J Cook, Sangeeta Mehta, Waleed Alhazzani, Ewan Goligher, Emmanuel Charbonney, Yaseen M Arabi, Tim Karachi, Alexis F Turgeon, Lori Hand, Qi Zhou, Peggy Austin, Jan Friedrich, Francois Lamontagne, François Lauzier, Rakesh Patel, John Muscedere, Richard Hall, Pierre Aslanian, Thomas Piraino, Martin Albert, Sean M Bagshaw, Mike Jacka, Gordon Wood, William Henderson, Delbert Dorscheid, Niall D Ferguson, Maureen O Meade
RATIONALE: Clinicians' current practice patterns in the management of acute respiratory distress syndrome (ARDS) and refractory hypoxemia are not well described. OBJECTIVES: To describe mechanical ventilation strategies and treatment adjuncts for adults with ARDS including refractory hypoxemia. METHODS: Prospective cohort study (March 2014-February 2015) of mechanically ventilated adults with moderate-to-severe ARDS requiring FiO2 ≥0.50 in 24 ICUs...
September 14, 2017: Annals of the American Thoracic Society
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