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https://www.readbyqxmd.com/read/29321360/ellis-van-creveld-syndrome-and-profound-deafness-resulted-by-sequence-variants-in-the-evc-evc2-and-tmc1-genes
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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...
October 25, 2017: Human Mutation
https://www.readbyqxmd.com/read/28973407/gli1-inactivation-is-associated-with-developmental-phenotypes-overlapping-with-ellis-van-creveld-syndrome
#10
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
#11
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
#12
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...
September 26, 2017: Anatomical Record: Advances in Integrative Anatomy and Evolutionary Biology
https://www.readbyqxmd.com/read/28857138/biallelic-mutations-in-dync2li1-are-a-rare-cause-of-ellis-van-creveld-syndrome
#13
Marcello Niceta, Katia Margiotti, Maria Cristina Digilio, Valentina Guida, Alessandro Bruselles, Simone Pizzi, Alessandro Ferraris, Luigi Memo, Nicola Laforgia, Maria Lisa Dentici, Federica Consoli, Isabella Torrente, Victor L Ruiz-Perez, Bruno Dallapiccola, Bruno Marino, Alessandro De Luca, Marco Tartaglia
Ellis van Creveld syndrome (EvC) is a chondral and ectodermal dysplasia caused by biallelic mutations in the EVC, EVC2 and WDR35 genes. A proportion of cases with clinical diagnosis of EvC, however, do not carry mutations in these genes. To identify the genetic cause of EvC in a cohort of mutation-negative patients, exome sequencing was undertaken in a family with three affected members, and mutation scanning of a panel of clinically and functionally relevant genes was performed in 24 additional subjects with features fitting/overlapping EvC...
August 30, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28854412/wide-spread-cone-shaped-epiphyses-in-two-saudi-siblings-with-ellis-van-creveld-syndrome
#14
Abeer Al-Fardan, Mohammad M Al-Qattan
INTRODUCTION: Ellis-van Creveld (EVC) syndrome is one of the rarest ciliopathy syndromes. It is caused by mutations of the EVC and EVC2 genes which encode the EVC proteins present in the basal body of the primary cilium. PRESENTATION OF CASES: We report on a Saudi family with two affected children. Gene analysis revealed a homozygous c.2T >A in exon 1 of the EVC gene. The most interesting finding in our patients was the wide - spread cone-shaped epiphyses in the hands and feet...
2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28658363/early-vertical-correction-of-the-deep-curve-of-spee
#15
Renato Parsekian Martins
Even though few technological advancements have occurred in Orthodontics recently, the search for more efficient treatments continues. This paper analyses how to accelerate and improve one of the most arduous phases of orthodontic treatment, i.e., correction of the curve of Spee. The leveling of a deep curve of Spee can happen simultaneously with the alignment phase through a method called Early Vertical Correction (EVC). This technique uses two cantilevers affixed to the initial flexible archwire. This paper describes the force system produced by EVC and how to control its side effects...
March 2017: Dental Press Journal of Orthodontics
https://www.readbyqxmd.com/read/28635541/association-between-abnormal-brain-functional-connectivity-in-children-and-psychopathology-a-study-based-on-graph-theory-and-machine-learning
#16
João Ricardo Sato, Claudinei Eduardo Biazoli, Giovanni Abrahão Salum, Ary Gadelha, Nicolas Crossley, Gilson Vieira, André Zugman, Felipe Almeida Picon, Pedro Mario Pan, Marcelo Queiroz Hoexter, Edson Amaro, Mauricio Anés, Luciana Monteiro Moura, Marco Antonio Gomes Del'Aquilla, Philip Mcguire, Luis Augusto Rohde, Euripedes Constantino Miguel, Andrea Parolin Jackowski, Rodrigo Affonseca Bressan
OBJECTIVES: One of the major challenges facing psychiatry is how to incorporate biological measures in the classification of mental health disorders. Many of these disorders affect brain development and its connectivity. In this study, we propose a novel method for assessing brain networks based on the combination of a graph theory measure (eigenvector centrality) and a one-class support vector machine (OC-SVM). METHODS: We applied this approach to resting-state fMRI data from 622 children and adolescents...
February 8, 2017: World Journal of Biological Psychiatry
https://www.readbyqxmd.com/read/28570402/genetic-factors-involved-in-mandibular-prognathism
#17
Anna Doraczynska-Kowalik, Kamil H Nelke, Wojciech Pawlak, Maria M Sasiadek, Hanna Gerber
Mandibular prognathism is defined as an abnormal forward projection of the mandible beyond the standard relation to the cranial base and it is usually categorized as both a skeletal Class III pattern and Angle Class III malocclusion. The etiology of mandibular prognathism is still uncertain, with various genetic, epigenetic, and environmental factors possibly involved. However, many reports on its coexistence in both twins and segregation in families suggest the importance of genetic influences. A multifactorial and polygenic background with a threshold for expression or an autosomal dominant mode with incomplete penetrance and variable expressivity are the most probable inheritance patterns...
May 31, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28523436/hrm-and-snapshot-as-alternative-forensic-snp-genotyping-methods
#18
Bhavik Mehta, Runa Daniel, Dennis McNevin
Single nucleotide polymorphisms (SNPs) have been widely used in forensics for prediction of identity, biogeographical ancestry (BGA) and externally visible characteristics (EVCs). Single base extension (SBE) assays, most notably SNaPshot® (Thermo Fisher Scientific), are commonly used for forensic SNP genotyping as they can be employed on standard instrumentation in forensic laboratories (e.g. capillary electrophoresis). High resolution melt (HRM) analysis is an alternative method and is a simple, fast, single tube assay for low throughput SNP typing...
May 18, 2017: Forensic Science, Medicine, and Pathology
https://www.readbyqxmd.com/read/28424604/mapping-critical-language-sites-in-children-performing-verb-generation-whole-brain-connectivity-and-graph-theoretical-analysis-in-meg
#19
Vahab Youssofzadeh, Brady J Williamson, Darren S Kadis
A classic left frontal-temporal brain network is known to support language processes. However, the level of participation of constituent regions, and the contribution of extra-canonical areas, is not fully understood; this is particularly true in children, and in individuals who have experienced early neurological insult. In the present work, we propose whole-brain connectivity and graph-theoretical analysis of magnetoencephalography (MEG) source estimates to provide robust maps of the pediatric expressive language network...
2017: Frontiers in Human Neuroscience
https://www.readbyqxmd.com/read/28322774/development-and-reliability-of-the-new-endoscopic-virtual-chromoendoscopy-score-the-picasso-paddington-international-virtual-chromoendoscopy-score-in-ulcerative%C3%A2-colitis
#20
Marietta Iacucci, Marco Daperno, Mark Lazarev, Razvan Arsenascu, Gian Eugenio Tontini, Oluseyi Akinola, Xianyong Sean Gui, Vincenzo Villanacci, Martin Goetz, Mark Lowerison, Brendan Cord Lethebe, Maurizio Vecchi, Helmut Neumann, Subrata Ghosh, Raf Bisschops, Ralf Kiesslich
BACKGROUND AND AIMS: Endoscopic inflammation and healing are important therapeutic endpoints in ulcerative colitis (UC). We developed and validated a new electronic virtual chromoendoscopy (EVC) score that could reflect the full spectrum of mucosal and vascular changes including mucosal healing in UC. METHODS: Eight participants reviewed a 60-minute training module outlining 3 different i-SCAN modes demonstrating the entire spectrum of inflammatory mucosal and vascular changes in UC...
March 18, 2017: Gastrointestinal Endoscopy
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