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Duane syndrome

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https://www.readbyqxmd.com/read/28716375/aging-and-post-intensive-care-syndrome-a-critical-need-for-geriatric-psychiatry
#1
REVIEW
Sophia Wang, Duane Allen, You Na Kheir, Noll Campbell, Babar Khan
Because of the aging of the intensive care unit (ICU) population and an improvement in survival rates after ICU hospitalization, an increasing number of older adults are suffering from long-term impairments because of critical illness, known as post-intensive care syndrome (PICS). This article focuses on PICS-related cognitive, psychological, and physical impairments and the impact of ICU hospitalization on families and caregivers. The authors also describe innovative models of care for PICS and what roles geriatric psychiatrists could play in the future of this rapidly growing population...
June 1, 2017: American Journal of Geriatric Psychiatry
https://www.readbyqxmd.com/read/28677207/new-role-of-lrp5-associated-with-non-syndromic-autosomal-recessive-hereditary-hearing-loss
#2
Wenjun Xia, Jiongjiong Hu, Fei Liu, Jing Ma, Shaoyang Sun, Jin Zhang, Kaiyue Jin, Jianbo Huang, Nan Jiang, Xu Wang, Wenwen Li, Zhaoxin Ma, Duan Ma
Human hearing loss is a common neurosensory disorder about which many basic research and clinically relevant questions are unresolved. And at least 50% of hearing loss are due to a genetic etiology. Although hundreds of genes have been reported, there were still hundreds of related deafness genes to be found. Clinical, genetic, and functional investigations were performed to identify the causative mutation in a distinctive Chinese family with post-lingual non-syndromic sensorineural hearing loss. Whole-exome sequencing identified lipoprotein receptor-related protein 5 (LRP5), a member of the low-density lipoprotein receptor family, as the causative gene in this family...
July 4, 2017: Human Mutation
https://www.readbyqxmd.com/read/28674241/mutation-analysis-of-col4a3-and-col4a4-genes-in-a-chinese-autosomal-dominant-alport-syndrome-family
#3
Liwei Guo, Duan Li, Shuangshuang Dong, Donghao Wan, Baosheng Yang, Yanmei Huang
Autosomal dominant Alport syndrome (ADAS) accounts for 5% of all cases of Alport syndrome (AS), a primary basement membrane disorder arising from mutations in genes encoding the type IV collagen protein family.Mutations in COL4A3 and COL4A4 genes were reported to be associated with ADAS. In this study, clinical data in a large consanguineous family with seven affected members were reviewed, and genomic DNA was extracted. For mutation screening, all exons of COL4A3 and COL4A4 genes were polymerase chain reaction-amplified and direct sequenced from genomic DNA, and the mutations were analyzed by comparing with members in this family, 100 ethnicitymatched controls and the sequence of COL4A3 and COL4A4 genes from GenBank...
June 2017: Journal of Genetics
https://www.readbyqxmd.com/read/28666948/bile-acid-deficiency-in-subgroup-of-patients-with-irritable-bowel-syndrome-with-constipation-based-on-biomarkers-in-serum-and-fecal-samples
#4
Priya Vijayvargiya, Irene Busciglio, Duane Burton, Leslie Donato, Alan Lueke, Michael Camilleri
BACKGROUND & AIMS: Short-term administration of delayed-release chenodeoxycholic acid to patients with irritable bowel syndrome with constipation (IBS-C) accelerates colonic transit and reduces symptoms. A preliminary study has shown that patients with IBS-C have reduced levels of bile acids (BAs) in feces and reduced synthesis of BA. We compared levels of primary and secondary BAs in fecal samples collected over a 48-hr period from patients with IBS-C on a diet that contained 100 g fat per day, and compared them will levels in samples from healthy volunteers (controls)...
June 27, 2017: Clinical Gastroenterology and Hepatology
https://www.readbyqxmd.com/read/28655092/-evaluation-of-clinical-characteristics-myd88-l265p-mutation-cxcr4-whim-mutation-and-prognosis-in-waldenstr%C3%A3-m-macroglobulinemia-a-single-center-retrospective-study-of-93-patients
#5
X X Cao, Q Meng, H Cai, Y Y Mao, M H Duan, T N Zhu, W Zhang, B Han, J L Zhuang, H C Cai, M Chen, J Feng, X Han, Y Zhang, C Yang, L Zhang, D B Zhou, J Li
Objective: To evaluate the clinical characteristics, MYD88(L265P) mutation, CXCR4(W)HIM mutation and prognosis in patients with Waldenström macroglobulinemia (WM). Methods: The clinical characteristics, International Prognostic Scoring System for symptomatic WM (WPSS) , and overall survival (OS) were retrospectively assayed in 93 patients with newly diagnosed WM at Peking Union Medical College Hospital during January 2000 to August 2016. The MYD88(L265P) mutation and CXCR4(W)HIM mutation were tested among 34 patients...
June 14, 2017: Zhonghua Xue Ye Xue za Zhi, Zhonghua Xueyexue Zazhi
https://www.readbyqxmd.com/read/28650953/de-novo-paternal-fbn1-mutation-detected-in-embryos-before-implantation
#6
Shuling Wang, Ziru Niu, Hui Wang, Minyue Ma, Wei Zhang, Shu Fang Wang, Jun Wang, Hong Yan, Yifan Liu, Na Duan, Xiandong Zhang, Yuanqing Yao
BACKGROUND Marfan syndrome (MFS) is an autosomal dominant disease caused by mutations in the Fibrillin (FBN)1 gene and characterized by disorders in the cardiovascular, skeletal, and visual systems. The diversity of mutations and phenotypic heterogeneity of MFS make prenatal molecular diagnoses difficult. In this study, we used pre-implantation genetic diagnosis (PGD) to identify the pathogenic mutation in a male patient with MFS and to determine whether his offspring would be free of the disease. MATERIAL AND METHODS The history and pedigree of the proband were analyzed...
June 26, 2017: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
https://www.readbyqxmd.com/read/28632766/associations-between-anthropometric-parameters-and-lipid-profiles-in-chinese-individuals-with-age-%C3%A2-40-years-and-bmi-28kg-m2
#7
Zhi Yang, Xun Ding, Jiang Liu, Peng Duan, Lian Si, Binghua Wan, Ping Tu
BACKGROUND: Lipid abnormalities are associated with overweight and obesity. Some simple anthropometric measurements such as body mass index (BMI), waist circumference (WC), waist-to-hip ratio (WHpR), and waist-to-height ratio (WHtR), may link to increased risk of dyslipidemia. However, diverse results were found in different population studies. We focused on the associations between these measurements and dyslipidemia in non-obese (BMI <28kg/m2) population aged more than 40 years. METHODS AND FINDINGS: Cross-sectional study of 4185 non-obese adults aged more than 40 years was conducted in Nanchang, Jiangxi province, China...
2017: PloS One
https://www.readbyqxmd.com/read/28587394/mir-206-inhibits-fn1-expression-and-proliferation-and-promotes-apoptosis-of-rat-type-ii-alveolar-epithelial-cells
#8
Jun Duan, Xiaoying Zhang, Sheng Zhang, Shaodong Hua, Zhichun Feng
Bronchopulmonary dysplasia (BPD) is a syndrome of respiratory distress caused by chronic lung injury, primarily in preterm infants. miR-206 and fibronectin 1 (FN1) are associated with the development of BPD. The present study used rat type II alveolar epithelial cells (AECII) to investigate the underlying mechanisms of BPD. AECII were isolated using a primary cell culture prior to alkaline phosphatase staining and immunofluorescence of surfactant protein C (SP-C). These were used to verify the presence of AECII...
June 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28585716/detection-of-dendritic-cells-and-related-cytokines-in-follicular-fluid-of-patients-with-polycystic-ovary-syndrome
#9
Tao Zhang, Fuying Tian, Ran Huo, Aifa Tang, Yong Zeng, Yong-Gang Duan
PROBLEM: The presence of dendritic cells (DCs) and associated cytokines in follicular fluid (FF) from patients with polycystic ovary syndrome (PCOS) remains unknown. METHODS OF STUDY: FF was collected from PCOS patients and patients with severe male factor infertility (control) at the day of transvaginal oocyte retrieval. Phenotypes of DC were detected by flow cytometry, and TNF-α, IL-6, IL-10, and IL-23 were assessed by ELISA. RESULTS: A significant decrease in the percentage of DC was found in patients with PCOS (16...
June 6, 2017: American Journal of Reproductive Immunology: AJRI
https://www.readbyqxmd.com/read/28577332/hippocampal-fractional-amplitude-of-low-frequency-fluctuation-and-functional-connectivity-changes-in-premenstrual-syndrome
#10
Gaoxiong Duan, Huimei Liu, Yong Pang, Peng Liu, Yanfei Liu, Geliang Wang, Hai Liao, Lijun Tang, Wenfu Chen, Xiaping Mo, Danhong Wen, Hua Lin, Demao Deng
PURPOSE: To investigate differences in hippocampal activity between premenstrual syndrome (PMS) patients and healthy controls, to elucidate the neural mechanisms of PMS. MATERIALS AND METHODS: Twenty female patients with PMS (PMS group) and 21 healthy controls (HC group) underwent a single-shot gradient-recalled echo planar imaging (EPI) sequence scan during the luteal phase in 3.0 Tesla MRI. Spontaneous neural activity in hippocampus (HIPP) was measured by fractional amplitude of low-frequency fluctuation (fALFF)...
June 3, 2017: Journal of Magnetic Resonance Imaging: JMRI
https://www.readbyqxmd.com/read/28574005/congenital-inverse-duane-s-retraction-syndrome-a-rare-presentation
#11
Sumita Agarkar, Anushree Kaduskar
A 12-year-old girl presented with esotropia and face turn since birth. Ocular motility examination showed restricted abduction associated with down shoot and retraction on attempted abduction characteristic of inverse Duane's retraction syndrome. To the best of our knowledge, this is one of the very few reported cases of congenital inverse Duane's retraction syndrome.
May 2017: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/28562525/ophthalmoplegia-associated-with-lung-adenocarcinoma-in-a-patient-with-the-lambert-eaton-myasthenic-syndrome-a-case-report
#12
Yufeng Tang, Ke Wang, Zhonglun Chen, Muke Zhou, Jingfeng Duan, Tao Liu, Dong Zhou
RATIONALE: The Lambert-Eaton myasthenic syndrome (LEMS) is a neuromuscular disease; its unique symptoms of LEMS include dry mouth with a metallic taste, constipation, and erectile dysfunction. As it is quite rare, isolated ocular muscle impairment associated with LEMS east to ignore. PATIENT CONCERNS: A 65-year-old man presented with alternating ptosis and diplopia. Isolated ocular muscle impairment had lasted for 6 years, and the patient was initially diagnosed with ocular myasthenia gravis (MG)...
June 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28548124/oligomonocytic-chronic-myelomonocytic-leukemia-chronic-myelomonocytic-leukemia-without-absolute-monocytosis-displays-a-similar-clinicopathologic-and-mutational-profile-to-classical-chronic-myelomonocytic-leukemia
#13
Julia T Geyer, Wayne Tam, Yen-Chun Liu, Zhengming Chen, Sa A Wang, Carlos Bueso-Ramos, Jean Oak, Daniel A Arber, Eric Hsi, Heesun J Rogers, Katherine Levinson, Adam Bagg, Duane C Hassane, Robert P Hasserjian, Attilio Orazi
Chronic myelomonocytic leukemia is characterized by persistent absolute monocytosis (≥1 × 10(9)/l) in the peripheral blood and dysplasia in ≥1 lineages. In the absence of dysplasia, an acquired clonal genetic abnormality is required or causes for reactive monocytosis have to be excluded. Oligomonocytic chronic myelomonocytic leukemia showing increased monocytes but no absolute monocytosis in the peripheral blood occurs occasionally. These cases are likely classified as myelodysplastic syndrome or myelodysplastic/myeloproliferative neoplasm, unclassifiable...
May 26, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/28545486/depression-in-patients-with-sapho-syndrome-and-its-relationship-with-brain-activity-and-connectivity
#14
Jie Lu, Yanping Duan, Zhentao Zuo, Wenrui Xu, Xuewei Zhang, Chen Li, Rong Xue, Hanzhang Lu, Weihong Zhang
BACKGROUND: Synovitis-acne-pustulosis-hyperostosis-osteitis (SAPHO) syndrome is a rare disease and there is no related literature concerning psychiatric symptoms in SAPHO patients. Thus, we believe that this will be the first paper to explore the episode and the neurobiological basis of depression symptoms in SAPHO patients using resting state functional magnetic resonance imaging (rs-fMRI). Twenty-eight SAPHO patients and fifteen age- and gender- matched normal controls (NC) were consecutively submitted to psychiatric evaluation and rs-fMRI scanning...
May 25, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28534340/imaging-of-cranial-nerves-iii-iv-vi-in-congenital-cranial-dysinnervation-disorders
#15
REVIEW
Jae Hyoung Kim, Jeong Min Hwang
Congenital cranial dysinnervation disorders are a group of diseases caused by abnormal development of cranial nerve nuclei or their axonal connections, resulting in aberrant innervation of the ocular and facial musculature. Its diagnosis could be facilitated by the development of high resolution thin-section magnetic resonance imaging. The purpose of this review is to describe the method to visualize cranial nerves III, IV, and VI and to present the imaging findings of congenital cranial dysinnervation disorders including congenital oculomotor nerve palsy, congenital trochlear nerve palsy, Duane retraction syndrome, Möbius syndrome, congenital fibrosis of the extraocular muscles, synergistic divergence, and synergistic convergence...
June 2017: Korean Journal of Ophthalmology: KJO
https://www.readbyqxmd.com/read/28526001/postoperative-full-abduction-in-a-patient-of-duane-retraction-syndrome-without-an-abducens-nerve-a-case-report
#16
Jae Hyoung Kim, Jeong-Min Hwang
BACKGROUND: Duane retraction syndrome (DRS) consists of abduction deficit, globe retraction and upshoots or downshoots with adduction. The abducens nerve on the affected side is absent in type 1 DRS. After bilateral medial rectus muscle recession in unilateral type 1 DRS may improve the abduction limitation, but still more than -3 limitation remains. CASE PRESENTATION: A 6-month-old boy presented with esotropia which had been noticed in early infancy. He showed limited abduction, fissure narrowing on attempted adduction and a small upshoot OS...
May 19, 2017: BMC Ophthalmology
https://www.readbyqxmd.com/read/28476458/-sensory-and-motor-clinical-presentation-of-congenital-retraction-syndromes-stilling-duane-and-brown-syndrome
#17
V Promelle, M Fortier, S Milazzo
INTRODUCTION: Congenital Brown syndrome and Stilling-Duane syndrome, two rare causes of strabismus are caused by fibrosis of one or more extraocular muscles. This series aims to report the clinical sensory and motor features of patients with Brown or Stilling-Duane syndrome. METHODS: Seventeen patients' records were retrospectively assessed for: the ocular deviation in primary position and in the 9 positions of gaze, head tilt, visual acuity and binocular vision...
May 2017: Journal Français D'ophtalmologie
https://www.readbyqxmd.com/read/28459979/ocular-congenital-cranial-dysinnervation-disorders-ccdds-insights-into-axon-growth-and-guidance
#18
Mary C Whitman, Elizabeth C Engle
Unraveling the genetics of the paralytic strabismus syndromes known as congenital cranial dysinnervation disorders (CCDDs) is both informing physicians and their patients and broadening our understanding of development of the ocular motor system. Genetic mutations underlying ocular CCDDs alter either motor neuron specification or motor nerve development, and highlight the importance of modulations of cell signaling, cytoskeletal transport, and microtubule dynamics for axon growth and guidance. Here we review recent advances in our understanding of two CCDDs, congenital fibrosis of the extraocular muscles (CFEOM) and Duane retraction syndrome (DRS), and discuss what they have taught us about mechanisms of axon guidance and selective vulnerability...
April 28, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28458114/altered-fractional-amplitude-of-low-frequency-fluctuation-in-premenstrual-syndrome-a-resting-state-fmri-study
#19
Hai Liao, Gaoxiong Duan, Peng Liu, Yanfei Liu, Yong Pang, Huimei Liu, Lijun Tang, Jien Tao, Danhong Wen, Shasha Li, Lingyan Liang, Demao Deng
BACKGROUND: Premenstrual syndrome (PMS) is becoming highly prevalent among female and is characterized by emotional, physical and behavior symptoms. Previous evidence suggested functional dysregulation of female brain was expected to be involved in the etiology of PMS. The aim of present study was to evaluate the alterations of spontaneous brain activity in PMS patients based on functional magnetic resonance imaging (fMRI). METHODS: 20 PMS patients and 21 healthy controls underwent resting-state fMRI scanning during luteal phase...
April 24, 2017: Journal of Affective Disorders
https://www.readbyqxmd.com/read/28450188/hydrogen-sulfide-attenuates-cardiac-injury-in-takotsubo-cardiomyopathy-by-alleviating-oxidative-stress
#20
Zhihong Zhang, Sheng Jin, Xu Teng, Xiaocui Duan, Yuhong Chen, Yuming Wu
Takotsubo cardiomyopathy (TCM) is characterized by transient left ventricular apical ballooning with the absence of coronary occlusion, which is an acute cardiac syndrome with substantial morbidity and mortality. It was reported that reduced endogenous hydrogen sulfide (H2S) levels may be related to various heart diseases. The present study investigated the mechanism by which H2S administration modulates and protects cardiac function in TCM rats. In order to establish a TCM model, Sprague Dawley (SD) rats were injected with a single dose of β-adrenergic agonist isoprenaline (ISO)...
April 24, 2017: Nitric Oxide: Biology and Chemistry
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