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https://www.readbyqxmd.com/read/29738170/-tongjingling-improves-sperm-dna-integrity-and-reduces-oxidative-stress-in-the-testis-of-experimental-varicocele-rats
#1
Bao-Xin DU, Jun-Zhuang Zheng, Bing Liu, Fang-Ze Tao, Yue-Kun Fang, Wen-Li Xu, Yun Cui
Objective: To explore the protective effect of Tongjingling (TJL) against sperm DNA damage and oxidative stress in the rat model of experimental varicocele (EVC). METHODS: We randomly divided 75 Wistar male rats into five groups of equal number: sham operation, EVC model, high-dose TJL, mid-dose TJL, and low-dose TJL. The EVC model was established in the rats by partial ligation of the left renal vein, followed by 8 weeks of medication from the 4th week after modeling...
November 2017: Zhonghua Nan Ke Xue, National Journal of Andrology
https://www.readbyqxmd.com/read/29607224/ellis-van-creveld-syndrome-a-rare-clinical-report-of-oral-rehabilitation-by-interdisciplinary-approach
#2
Talib Amin Naqash, Ibrahim Alshahrani, Siripan Simasetha
Ellis-van Creveld syndrome (EVC) is a very rare genetic disorder that affects various tissues of ectodermal and mesodermal origin; patients with EVC present with typical oral deficiencies. The affected individuals are quite young at the time of oral evaluation. It is, therefore, important that these individuals are diagnosed and receive dental treatment at an early age for their physiologic and psychosocial well-being. Albeit there are numerous articles penned on the EVC, the treatise from an oral perspective is inadequate, covering only oral exhibitions and the preventive treatments...
2018: Case Reports in Dentistry
https://www.readbyqxmd.com/read/29605491/comparative-analysis-of-retinal-ganglion-cell-damage-in-three-glaucomatous-rat-models
#3
Wanjing Huang, Fangyuan Hu, Min Wang, Fengjuan Gao, Ping Xu, Chao Xing, Xinghuai Sun, Shenghai Zhang, Jihong Wu
Progressive retinal ganglion cell (RGC) death is the major cause of retinal nerve fiber layer thinning and visual field defects in glaucoma. The purpose of this study was to compare RGC damage in three commonly used glaucomatous rat models. These models were generated by (i) injection of paramagnetic microbeads into the anterior chamber; (ii) cauterization of three episcleral veins of the eye (EVC); and (iii) intravitreal injection of N-Methyl-D-Aspartate (NMDA). Intraocular pressure (IOP) was measured with a rebound tonometer at 6, 12, and 18 h; 1, 3, and 5 days; and 1, 2, 3, 4, 6, and 8 weeks...
March 29, 2018: Experimental Eye Research
https://www.readbyqxmd.com/read/29556719/assessment-of-the-precision-id-ancestry-panel
#4
Muna Al-Asfi, Dennis McNevin, Bhavik Mehta, Daniel Power, Michelle E Gahan, Runa Daniel
AbstractThe ability to provide accurate DNA-based forensic intelligence requires analysis of multiple DNA markers to predict the biogeographical ancestry (BGA) and externally visible characteristics (EVCs) of the donor of biological evidence. Massively parallel sequencing (MPS) enables the analysis of hundreds of DNA markers in multiple samples simultaneously, increasing the value of the intelligence provided to forensic investigators while reducing the depletion of evidential material resulting from multiple analyses...
March 19, 2018: International Journal of Legal Medicine
https://www.readbyqxmd.com/read/29548940/the-paddington-international-virtual-chromoendoscopy-score-picasso-in-ulcerative-colitis-exhibits-very-good-inter-rater-agreement-after-computerized-module-training-a-multicenter-study-across-academic-and-community-practice-with-video
#5
Palak J Trivedi, Ralf Kiesslich, James Hodson, Neeraj Bhala, Ralph A Boulton, Rachel Cooney, Xianyong Gui, Tariq Iqbal, Ka-Kit Li, Saqib Mumtaz, Shri Pathmakanthan, Mohammed Nabil Quraishi, Vandana M Sagar, Ashit Shah, Naveen Sharma, Keith Siau, Samuel Smith, Stephen Ward, Monika M Widlak, Raf Bisschops, Subrata Ghosh, Marietta Iacucci
INTRODUCTION: Electronic virtual chromoendoscopy (EVC) can demonstrate ongoing disease activity in ulcerative colitis (UC), even when Mayo subscores suggest healing. However, applicability of EVC technology outside the expert setting has yet to be determined. METHODS: 15 participants across 5 centers reviewed a computerized training module outlining high-definition (HD) and EVC (i-Scan) colonoscopy modes. Interobserver agreement was then tested (Mayo score, UCEIS and the Paddington International virtual ChromoendoScopy ScOre [PICaSSO] for UC), using a colonoscopy video library (n=30 cases reviewed pre- and n=30 post-training)...
March 13, 2018: Gastrointestinal Endoscopy
https://www.readbyqxmd.com/read/29482704/ellis-van-creveld-syndrome-in-a-neonate
#6
Sughra Wahid, Saqib Aslam, Sadaf Minhas
Ellis-van Creveld syndrome is a rare form of skeletal and chondroectodermal dysplasia which affects all the three ectodermal, mesodermal, and endodermal derivatives. It has an autosomal recessive inheritance. This is caused by mutations in 1 of 2 genes, EVC 1 or EVC 2. This syndrome has a constellation of characteristic features that include bilateral post-axial polydactyly, mainly involving the upper limbs, hypoplastic nails and teeth, congenital heart defects, and chondroectodermal dysplasia. It is mainly a disorder of Amish population where incidence of this disease is 1/5000 and its incidence in non-Amish population is 7/1000000...
March 2018: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/29458881/prenatal-diagnosis-of-short-rib-polydactyly-syndrome-type-iii-or-short-rib-thoracic-dysplasia-3-with-or-without-polydactyly-srtd3-associated-with-compound-heterozygous-mutations-in-dync2h1-in-a-fetus
#7
Chih-Ping Chen, Tsang-Ming Ko, Tung-Yao Chang, Schu-Rern Chern, Shin-Wen Chen, Shih-Ting Lai, Tzu-Yun Chuang, Wayseen Wang
OBJECTIVE: We present the perinatal imaging findings and molecular genetic analysis in a fetus with short-rib polydactyly syndrome (SRPS) type III or short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3). CASE REPORT: A 29-year-old, primigravid woman was referred for genetic counseling at 15 weeks of gestation because of abnormal ultrasound findings of short limbs, a narrow chest and bilateral polydactyly of the hands and feet, consistent with a diagnosis of SRPS type III...
February 2018: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29382711/differential-sampling-of-visual-space-in-ventral-and-dorsal-early-visual-cortex
#8
Edward H Silson, Richard C Reynolds, Dwight J Kravitz, Chris I Baker
A fundamental feature of cortical visual processing is the separation of visual processing for the upper and lower visual fields. In early visual cortex (EVC), the upper visual field is processed ventrally, with the lower visual field processed dorsally. This distinction persists into several category-selective regions of occipitotemporal cortex, with ventral and lateral scene-, face-, and object-selective regions biased for the upper and lower visual fields, respectively. Here, using an elliptical population receptive field (pRF) model, we systematically tested the sampling of visual space within ventral and dorsal divisions of human EVC in both male and female participants...
February 28, 2018: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/29321360/ellis-van-creveld-syndrome-and-profound-deafness-resulted-by-sequence-variants-in-the-evc-evc2-and-tmc1-genes
#9
Muhammad Umair, Heide Seidel, Ishtiaq Ahmed, Asmat Ullah, Tobias B Haack, Bader Alhaddad, Abid Jan, Afzal Rafique, Tim M Strom, Farooq Ahmad, Thomas Meitinger, Wasim Ahmad
Ellis-van Creveld syndrome is an autosomal recessive skeletal dysplasia primarily characterized by the features such as disproportionate dwarfism, short ribs, short limbs, dysplastic nails, cardiovascular malformations, post-axial polydactyly (PAP) (bilateral) of hands and feet. EVC/EVC2 located in head-to-head arrangement on chromosome 4p16 are the causative genes for EvC syndrome. In the study, we present two families, A and B, with Pakistani and Republic of Kosovo origin, respectively. They showed features of EvC syndrome and were clinically and genetically characterized...
December 2017: Journal of Genetics
https://www.readbyqxmd.com/read/29273463/two-novel-susceptibility-loci-for-type-2-diabetes-mellitus-identified-by-longitudinal-exome-wide-association-studies-in-a-japanese-population
#10
Yoshiki Yasukochi, Jun Sakuma, Ichiro Takeuchi, Kimihiko Kato, Mitsutoshi Oguri, Tetsuo Fujimaki, Hideki Horibe, Yoshiji Yamada
Recent genome-wide association studies identified genetic variants that confer susceptibility to type 2 diabetes mellitus (T2DM). However, few longitudinal genome-wide association studies of this metabolic disorder have been reported to date. Therefore, we performed a longitudinal exome-wide association study of T2DM, using 24,579 single nucleotide polymorphisms (SNPs) and repeated measurements from 6022 Japanese individuals. The generalized estimating equation model was applied to test relations of SNPs to three T2DM-related parameters: prevalence of T2DM, fasting plasma glucose level, and blood glycosylated hemoglobin content...
December 19, 2017: Genomics
https://www.readbyqxmd.com/read/29234185/ellis-van-creveld-with-an-unusual-dental-anomaly-a-case-report
#11
Suzanne Tanya Nethan, Shruti Sinha, Sunira Chandra
The Ellis-van Creveld (EVC) syndrome is a chondroectodermal dysplasia and is characterized by the cardinal features of disproportionate short stature, polydactyly, hidrotic ectodermal dysplasia, and congenital heart malformations, along with other skeletal and dental abnormalities. It is a rare condition, with very few cases reported in the medical literature. It is inherited as an autosomal recessive disorder with variable expressions, due to the mutation of the EVC syndrome 1 and 2 genes, which are located on chromosome 4p16...
September 2017: Iranian Journal of Medical Sciences
https://www.readbyqxmd.com/read/29229899/phenotypic-variation-in-patients-with-homozygous-c-1678g-t-mutation-in-evc-gene-report-of-two-mexican-families-with-ellis-van-creveld-syndrome
#12
Marisol Ibarra-Ramirez, Luis Daniel Campos-Acevedo, Jose Lugo-Trampe, Laura E Martínez-Garza, Víctor Martinez-Glez, María Valencia-Benitez, Pablo Lapunzina, Víctor Ruiz-Peréz
BACKGROUND Ellis-van Creveld syndrome is an autosomal recessive chondro-ectodermal dysplasia characterized by disproportionate short stature, limb shortening, narrow chest, postaxial polydactyly and dysplastic nails and teeth. In addition, 60% of cases present congenital heart defects. Ellis-van Creveld syndrome is predominantly caused by mutations in the EVC or EVC2 (4p16) genes, with only a few cases caused by mutations in WDR35.  CASE REPORT Here, we report on two Mexican families with patients diagnosed with Ellis-van Creveld syndrome...
December 12, 2017: American Journal of Case Reports
https://www.readbyqxmd.com/read/29190811/network-dynamics-of-human-face-perception
#13
Cihan Mehmet Kadipasaoglu, Christopher Richard Conner, Vatche George Baboyan, Matthew Rollo, Thomas Allyn Pieters, Nitin Tandon
Prevailing theories suggests that cortical regions responsible for face perception operate in a serial, feed-forward fashion. Here, we utilize invasive human electrophysiology to evaluate serial models of face-processing via measurements of cortical activation, functional connectivity, and cortico-cortical evoked potentials. We find that task-dependent changes in functional connectivity between face-selective regions in the inferior occipital (f-IOG) and fusiform gyrus (f-FG) are bidirectional, not feed-forward, and emerge following feed-forward input from early visual cortex (EVC) to both of these regions...
2017: PloS One
https://www.readbyqxmd.com/read/29190016/ocular-hypertension-glaucoma-in-minipigs-episcleral-veins-cauterization-and-microbead-occlusion-methods
#14
Elena Vecino, Haritz Urcola, Alejando Bayon, Sansar C Sharma
Two methods to induce elevation of the intraocular pressure (experimental glaucoma) are described in the present chapter. The first method is based on increasing the post-trabecular resistance to aqueous outflow by cauterizing the episcleral veins (EVC). This method allows the observation of ultrastructural changes in the trabecular meshwork (TM) without interfering with any structure within the eye such as TM, ciliary body, and/or the Retina. The second method is the multiple injection of microbeads into the anterior chamber, as a pre and intra-trabecular method that induce secondary effects on the TM cells...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29181344/successful-two-step-correction-for-severe-genu-valgum-in-ellis-van-creveld-syndrome-a-case-report
#15
Tomomi Kamada, Naohiko Mashima, Hiroshi Imai, Jun Takeba, Hiromasa Miura
Introduction: Ellis-van Creveld syndrome (EVC) is a very rare genetic disorder involving a severe, relentlessly progressive genu valgum deformity of the knee and it is usually difficult to correct all of the deformities by elevation of the depressed lateral tibial plateau alone. We are reporting one such case treated using two-step operative technique (first, gradual correction using Taylor spatial frame (TSF) and second, tibia elevation through intra-articular osteotomy). Case Report: We report a case of 10-year-old female with severe genu valgum in EVC using two-step operative technique...
July 2017: Journal of Orthopaedic Case Reports
https://www.readbyqxmd.com/read/29173298/management-of-congenital-heart-disease-associated-with-ellis-van-creveld-short-rib-thoracic-dysplasia
#16
Devyani Chowdhury, Katie B Williams, Aaron Chidekel, Christian Pizarro, Catherine Preedy, Millie Young, Christine Hendrickson, Donna L Robinson, Portia A Kreiger, Erik G Puffenberger, Kevin A Strauss
OBJECTIVE: To evaluate clinical outcome of patients with Ellis-van Creveld syndrome (EVC) in whom congenital heart disease (CHD) repair was delayed intentionally to reduce the risk of postoperative respiratory morbidity and mortality. STUDY DESIGN: This retrospective review of 51 EVC c.1886+5G>T homozygotes born between 2005 and 2014 focused on 18 subjects who underwent surgery for CHD, subdivided into early (mean, 1.3 months) vs delayed (mean, 50.1 months) repair...
December 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/29068549/expanding-the-genetic-architecture-and-phenotypic-spectrum-in-the-skeletal-ciliopathies
#17
Wenjuan Zhang, S Paige Taylor, Hayley A Ennis, Kimberly N Forlenza, Ivan Duran, Bing Li, Jorge A Ortiz Sanchez, Lisette Nevarez, Deborah A Nickerson, Michael Bamshad, Ralph S Lachman, Deborah Krakow, Daniel H Cohn
Defects in the biosynthesis and/or function of primary cilia cause a spectrum of disorders collectively referred to as ciliopathies. A subset of these disorders is distinguished by profound abnormalities of the skeleton that include a long narrow chest with markedly short ribs, extremely short limbs, and polydactyly. These include the perinatal lethal short-rib polydactyly syndromes (SRPS) and the less severe asphyxiating thoracic dystrophy (ATD), Ellis-van Creveld (EVC) syndrome, and cranioectodermal dysplasia (CED) phenotypes...
January 2018: Human Mutation
https://www.readbyqxmd.com/read/28973407/gli1-inactivation-is-associated-with-developmental-phenotypes-overlapping-with-ellis-van-creveld-syndrome
#18
Adrian Palencia-Campos, Asmat Ullah, Julian Nevado, Ruken Yildirim, Edip Unal, Maria Ciorraga, Pilar Barruz, Lucia Chico, Francesca Piceci-Sparascio, Valentina Guida, Alessandro De Luca, Hülya Kayserili, Irfan Ullah, Margit Burmeister, Pablo Lapunzina, Wasim Ahmad, Aixa Morales, Victor L Ruiz-Perez
GLI1, GLI2 and GLI3 form a family of transcription factors which regulate development by mediating the action of Hedgehog (Hh) morphogens. Accordingly, inactivating variants in GLI2 and GLI3 are found in several developmental disorders. In contrast, loss-of-function mutations in GLI1 have remained elusive, maintaining enigmatic the role of this gene in the human embryo. We describe eight patients from three independent families having biallelic truncating variants in GLI1 and developmental defects overlapping with Ellis-van Creveld syndrome (EvC), a disease caused by diminished Hh signalling...
August 26, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28955269/category-selectivity-of-human-visual-cortex-in-perception-of-rubin-face-vase-illusion
#19
Xiaogang Wang, Na Sang, Lei Hao, Yong Zhang, Taiyong Bi, Jiang Qiu
When viewing the Rubin face-vase illusion, our conscious perception spontaneously alternates between the face and the vase; this illusion has been widely used to explore bistable perception. Previous functional magnetic resonance imaging (fMRI) studies have studied the neural mechanisms underlying bistable perception through univariate and multivariate pattern analyses; however, no studies have investigated the issue of category selectivity. Here, we used fMRI to investigate the neural mechanisms underlying the Rubin face-vase illusion by introducing univariate amplitude and multivariate pattern analyses...
2017: Frontiers in Psychology
https://www.readbyqxmd.com/read/28950429/the-role-of-ellis-van-creveld-2-evc2-in-mice-during-cranial-bone-development
#20
Edwin K Kwon, Ke'ale Louie, Anshul Kulkarni, Marilia Yatabe, Antonio Carlos de Oliveira Ruellas, Taylor N Snider, Yoshiyuki Mochida, Lucia H S Cevidanes, Yuji Mishina, Honghao Zhang
EvC syndrome is a type of autosomal-recessive chondrodysplasia. Previous case studies in patients suggest abnormal craniofacial development, in addition to dwarfism and tooth abnormalities. To investigate how craniofacial development is affected in EvC patients, surface models were generated from micro-CT scans of control mice, Evc2 global mutant mice and Evc2 neural crest-specific mutant mice. The anatomic landmarks were placed on the surface model to assess the morphological abnormalities in the Evc2 mutants...
January 2018: Anatomical Record: Advances in Integrative Anatomy and Evolutionary Biology
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