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https://www.readbyqxmd.com/read/29231315/-acupuncture-with-regulating-mind-and-spleen-for-diarrhea-irritable-bowel-syndrome-and-sleep-quality-a-randomized-controlled-trial
#1
Jing Li, Jin Lu, Jianhua Sun, Zhizhong Ruan, Dake Xu, Hao Geng, Xue Zhou, Zhilan Huang, Wanli Xu, Hehua Si
OBJECTIVE: To compare the effects between acupuncture with regulating mind and spleen and wes-tern medication for diarrhea irritable bowel syndrome (IBS-D). METHODS: Eighty-one patients were randomly at the ratio of 2 to 1 assigned into an acupuncture group (54 cases) and a western medication group (27 cases). Acupuncture with regulating mind and spleen was applied in the acupuncture group for 6 weeks at Baihui (GV 20), Yintang (GV 29), Tianshu (ST 25), Zusanli (ST 36), Shangjuxu (ST 37), Sanyinjiao (SP 6), and Taichong (LR 3), once every other day, 3 times a week...
January 12, 2017: Zhongguo Zhen Jiu, Chinese Acupuncture & Moxibustion
https://www.readbyqxmd.com/read/29230941/a-child-with-myhre-syndrome-presenting-with-corectopia-and-tetralogy-of-fallot
#2
Marianna Alagia, Gerarda Cappuccio, Michele Pinelli, Annalaura Torella, Raffaella Brunetti-Pierri, Francesca Simonelli, Giuseppe Limongelli, Guido Oppido, Vincenzo Nigro, Nicola Brunetti-Pierri
Myhre syndrome is a rare autosomal dominant disorder caused by a narrow spectrum of missense mutations in the SMAD4 gene. Typical features of this disorder are distinctive facial appearance, deafness, intellectual disability, cardiovascular abnormalities, short stature, short hands and feet, compact build, joint stiffness, and skeletal anomalies. The clinical features generally appear during childhood and become more evident in older patients. Therefore, the diagnosis of this syndrome in the first years of life is challenging...
December 12, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29230811/whole-exome-sequencing-of-oral-mucosal-melanoma-reveals-mutational-profile-and-therapeutic-targets
#3
Jiong Lyu, Zhijian Song, Jianhua Chen, Matthew J Shepard, Hao Song, Guoxin Ren, Zhiqiang Li, Wei Guo, Zhengping Zhuang, Yongyong Shi
Oral mucosal melanoma (OMM) is rare and aggressive subtype of melanoma with little known about its pathogenesis carcinogenesis. We therefore performed whole-exome sequencing (WES) on 19 matched OMM tumor/normal pairs in order to gain insight on potential genetic drivers of tumor formation. For the first time we describe the comprehensive mutational profile of OMM. Our data suggests that the genetic background of OMM differs from those of other melanoma subtypes. We identified recurrent mutations involving KIT, POLE,PTPRD, PTCHD2 and DMXL2...
December 12, 2017: Journal of Pathology
https://www.readbyqxmd.com/read/29230040/congenital-embryonal-rhabdomyosarcoma-caused-by-heterozygous-concomitant-ptch1-and-ptch2-germline-mutations
#4
Julia Taeubner, Triantafyllia Brozou, Nan Qin, Jasmin Bartl, Sebastian Ginzel, Joerg Schaper, Joerg Felsberg, Simone Fulda, Christian Vokuhl, Arndt Borkhardt, Michaela Kuhlen
The sonic hedgehog (SHH) signaling pathway has been shown to play important roles in embryogenesis, cell proliferation as well as in cell differentiation. It is aberrantly activated in various common cancers in adults, but also in pediatric neoplasms, such as rhabdomyosarcoma (RMS) and atypical teratoid/rhabdoid tumors (AT/RTs). Dysregulation and germline mutation in PATCHED1 (PTCH1), a receptor for SHH, is responsible for the Gorlin Syndrome, a familial cancer predisposing syndrome including RMS. Here, we report a newborn diagnosed with congenital embryonal RMS...
December 11, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29226118/identification-of-a-novel-heterozygous-de-novo-7-bp-frameshift-deletion-in-pbx1-by-whole-exome-sequencing-causing-a-multi-organ-syndrome-including-bilateral-dysplastic-kidneys-and-hypoplastic-clavicles
#5
Korbinian Maria Riedhammer, Corinna Siegel, Bader Alhaddad, Carmen Montoya, Reka Kovacs-Nagy, Matias Wagner, Thomas Meitinger, Julia Hoefele
Introduction: Congenital anomalies of the kidney and urinary tract (CAKUT) represent the primary cause of chronic kidney disease in children. Many genes have been attributed to the genesis of this disorder. Recently, haploinsufficiency of PBX1 caused by microdeletions has been shown to result in bilateral renal hypoplasia and other organ malformations. Materials and methods: Here, we report on a 14-year-old male patient with congenital bilateral dysplastic kidneys, cryptorchidism, hypoplastic clavicles, developmental delay, impaired intelligence, and minor dysmorphic features...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/29219260/-gene-analysis-for-the-sudden-death-of-hypertrophic-cardiomyopathy-by-whole-exome-sequencing
#6
C C Xu, Y Z Bai, X S Xu, G L Lü, X P Lai, R Chen, H G Lin, W J Kuang
OBJECTIVES: To analyze the related pathogenicity gene mutations in a sudden death of hypertrophic cardiomyopathy (HCM) on whole exome level. METHODS: Whole exome sequencing (WES) was been performed on a sudden death case sample with pathological features of HCM by Illumina® Hiseq 2500 platform. Using hg19 as the reference sequences, the sequencing data were analyzed. Suspicious single nucleotide variants (SNV) were screened, and the conservatism and function were analyzed by the software such as PhyloP, PolyPhen-2, SIFT, etc...
August 2017: Fa Yi Xue za Zhi
https://www.readbyqxmd.com/read/29219214/whole-exome-sequencing-identifies-a-germline-met-mutation-in-two-siblings-with-hereditary-wild-type-ret-medullary-thyroid-cancer
#7
Marialuisa Sponziello, Silvia Benvenuti, Alessandra Gentile, Valeria Pecce, Francesca Rosignolo, Anna Rita Virzì, Melissa Milan, Paolo M Comoglio, Eric Londin, Paolo Fortina, Agnese Barnabei, Marialuisa Appetecchia, Ferdinando Marandino, Diego Russo, Sebastiano Filetti, Cosimo Durante, Antonella Verrienti
Whole exome sequencing (WES) was used to investigate two Italian siblings with wild-type RET genotype, who developed medullary thyroid cancers (MTCs) and, later, primary prostate and breast cancers, respectively. The proband's MTC harbored a p.Met918Thr RET mutation; his sister's MTC was RET/RAS-wild-type. Both siblings had a germline mutation (p.Arg417Gln) in the extracellular Sema domain of the proto-oncogene MET. Experiments involving ectopic expression of MET p.Arg417Gln in MET-negative T47D breast cancer cells documented the mutant receptor's functionality and its ability to enhance cell migration and invasion...
December 8, 2017: Human Mutation
https://www.readbyqxmd.com/read/29211846/slc25a10-biallelic-mutations-in-intractable-epileptic-encephalopathy-with-complex-i-deficiency
#8
Giuseppe Punzi, Vito Porcelli, Matteo Ruggiu, Faruk Hossain, Alessio Menga, Pasquale Scarcia, Alessandra Castegna, Ruggiero Gorgoglione, Ciro L Pierri, Luna Laera, Francesco M Lasorsa, Eleonora Paradies, Isabella Pisano, Carlo M T Marobbio, Eleonora Lamantea, Daniele Ghezzi, Valeria Tiranti, Sergio Giannattasio, Maria A Donati, Renzo Guerrini, Luigi Palmieri, Ferdinando Palmieri, Anna De Grassi
Mitochondrial diseases are a plethora of inherited neuromuscular disorders sharing defects in mitochondrial respiration, but largely different from one another for genetic basis and pathogenic mechanism. Whole exome sequencing was performed in a familiar trio (trio-WES) with a child affected by severe epileptic encephalopathy associated to respiratory complex I deficiency and mitochondrial DNA depletion in skeletal muscle. By trio-WES we identified biallelic mutations in SLC25A10, a nuclear gene encoding a member of the mitochondrial carrier family...
December 1, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/29210071/whole-exome-sequencing-of-sickle-cell-disease-patients-with-hyperhemolysis-syndrome-suggests-a-role-for-rare-variation-in-disease-predisposition
#9
Savannah Mwesigwa, Joann M Moulds, Alice Chen, Jonathan Flanagan, Vivien A Sheehan, Alex George, Neil A Hanchard
BACKGROUND: Hyperhemolysis syndrome (HHS) is an uncommon, but life-threatening, transfusion-related complication of red blood cell transfusion. HHS has predominantly been described in patients with sickle cell disease (SCD) and is difficult to diagnose and treat. The pathogenesis of HHS, including its occurrence in only a subset of apparently susceptible individuals, is poorly understood. We undertook whole-exome sequencing (WES) of 12 SCD-HHS patients to identify shared genetic variants that might be relevant to the development of HHS...
December 6, 2017: Transfusion
https://www.readbyqxmd.com/read/29204651/whole-exome-sequencing-in-adults-with-chronic-kidney-disease-a-pilot-study
#10
Sneh Lata, Maddalena Marasa, Yifu Li, David A Fasel, Emily Groopman, Vaidehi Jobanputra, Hila Rasouly, Adele Mitrotti, Rik Westland, Miguel Verbitsky, Jordan Nestor, Lindsey M Slater, Vivette D'Agati, Marcin Zaniew, Anna Materna-Kiryluk, Francesca Lugani, Gianluca Caridi, Luca Rampoldi, Aditya Mattoo, Chad A Newton, Maya K Rao, Jai Radhakrishnan, Wooin Ahn, Pietro A Canetta, Andrew S Bomback, Gerald B Appel, Corinne Antignac, Glen S Markowitz, Christine K Garcia, Krzysztof Kiryluk, Simone Sanna-Cherchi, Ali G Gharavi
Background: The utility of whole-exome sequencing (WES) for the diagnosis and management of adult-onset constitutional disorders has not been adequately studied. Genetic diagnostics may be advantageous in adults with chronic kidney disease (CKD), in whom the cause of kidney failure often remains unknown. Objective: To study the diagnostic utility of WES in a selected referral population of adults with CKD. Design: Observational cohort. Setting: A major academic medical center...
December 5, 2017: Annals of Internal Medicine
https://www.readbyqxmd.com/read/29203461/identifying-and-targeting-sporadic-oncogenic-genetic-aberrations-in-mouse-models-of-triple-negative-breast-cancer
#11
Hui Liu, Charles J Murphy, Florian A Karreth, Kristina B Emdal, Forest M White, Olivier Elemento, Alex Toker, Gerburg M Wulf, Lewis C Cantley
Triple negative breast cancers (TNBC) are genetically characterized by aberrations in TP53 and a low rate of activating point mutations in common oncogenes, rendering it challenging in applying targeted therapies. We performed whole exome sequencing (WES) and RNAseq to identify somatic genetic alterations in mouse models of TNBCs driven by loss of Trp53 alone or in combination with Brca1. Amplifications or translocations that resulted in elevated oncoprotein expressions or oncoprotein-containing fusions, respectively, as well as frame-shift mutations of tumor suppressors were identified in approximately 50% of the tumors evaluated...
December 4, 2017: Cancer Discovery
https://www.readbyqxmd.com/read/29197904/exposure-to-respirable-crystalline-silica-in-the-construction-industry-do-we-have-a-problem
#12
David McLean, Bill Glass, Andrea 't Mannetje, Jeroen Douwes
AIMS: To assess personal exposure to respirable dust and respirable crystalline silica (RCS) in New Zealand construction workers. METHODS: In a pilot study, 39 personal samples were collected from a cross-section of workers engaged in a range of tasks performed on construction sites that were expected to entail exposure to respirable crystalline silica. Nine static samples were taken at locations adjacent to these tasks. Particle size-selective sampling heads were used to collect the respirable fraction of airborne particulates...
December 1, 2017: New Zealand Medical Journal
https://www.readbyqxmd.com/read/29197384/involvement-of-the-bone-morphogenic-protein-smad-signaling-pathway-in-the-etiology-of-congenital-anomalies-of-the-kidney-and-urinary-tract-accompanied-by-cryptorchidism
#13
Kentaro Mizuno, Akihiro Nakane, Hidenori Nishio, Yoshinobu Moritoki, Hideyuki Kamisawa, Satoshi Kurokawa, Taiki Kato, Ryosuke Ando, Tetsuji Maruyama, Takahiro Yasui, Yutaro Hayashi
BACKGROUND: Congenital anomalies of the kidney and urinary tract (CAKUT), such as renal dysplasia, hydronephrosis, or vesicoureteral reflux, are the most common causes of end-stage renal disease. However, the genetic etiology of CAKUT remains unclear. In this study, we performed whole exome sequencing (WES) to elucidate the genetic etiology of symptomatic CAKUT and CAKUT accompanied by cryptorchidism. METHODS: Three patients with unilateral renal dysplasia accompanied by ipsilateral cryptorchidism were included in this analysis...
December 2, 2017: BMC Urology
https://www.readbyqxmd.com/read/29196976/identification-of-a-splicing-mutation-in-itpr1-via-wes-in-a-chinese-early-onset-spinocerebellar-ataxia-family
#14
Li Wang, Ying Hao, Peng Yu, Zhenhua Cao, Jin Zhang, Xin Zhang, Yuanyuan Chen, Hao Zhang, Weihong Gu
Mutations in the inositol 1,4,5-triphosphate receptor type 1 gene (ITPR1) lead to SCA15, SCA16, and SCA29. To date, only a few families with SCA29 have been reported. A three-generation Chinese family including four affected persons and two unaffected persons were enrolled in this study. We conducted whole-exome sequencing (WES) of the proband DNA initially to find the causal gene. We ascertained the family with autosomal dominant type of congenital nonprogressive cerebellar ataxia (CNPCA) associated with delayed motor and cognitive impairment...
December 1, 2017: Cerebellum
https://www.readbyqxmd.com/read/29194460/dynamical-system-modeling-to-simulate-donor-t-cell-response-to-whole-exome-sequencing-derived-recipient-peptides-understanding-randomness-in-alloreactivity-incidence-following-stem-cell-transplantation
#15
Vishal Koparde, Badar Abdul Razzaq, Tara Suntum, Roy Sabo, Allison Scalora, Myrna Serrano, Max Jameson-Lee, Charles Hall, David Kobulnicky, Nihar Sheth, Juliana Feltz, Daniel Contaifer, Dayanjan Wijesinghe, Jason Reed, Catherine Roberts, Rehan Qayyum, Gregory Buck, Michael Neale, Amir Toor
Quantitative relationship between the magnitude of variation in minor histocompatibility antigens (mHA) and graft versus host disease (GVHD) pathophysiology in stem cell transplant (SCT) donor-recipient pairs (DRP) is not established. In order to elucidate this relationship, whole exome sequencing (WES) was performed on 27 HLA matched related (MRD), & 50 unrelated donors (URD), to identify nonsynonymous single nucleotide polymorphisms (SNPs). An average 2,463 SNPs were identified in MRD, and 4,287 in URD DRP (p<0...
2017: PloS One
https://www.readbyqxmd.com/read/29191970/whole-exome-sequencing-of-cell-free-dna-reveals-temporo-spatial-heterogeneity-and-identifies-treatment-resistant-clones-in-neuroblastoma
#16
Mathieu Chicard, Leo Colmet Daage, Nathalie Clement, Adrien Danzon, Mylene Bohec, Virginie Bernard, Sylvain Baulande, Angela Bellini, Paul Deveau, Gaelle Pierron, Eve Lapouble, Isabelle Janoueix-Lerosey, Michel Peuchmaur, Nadège Corradini, Anne-Sophie Desfachelles, Dominique Valteau-Couanet, Jean Michon, Valerie Combaret, Olivier Delattre, Gudrun Schleiermacher
BACKGROUND: Neuroblastoma (NB) displays important clinical and genetic heterogeneity, with emergence of new mutations at tumor progression. PATIENTS AND METHODS: To study clonal evolution during treatment and follow-up, an innovative method based on circulating cell-free DNA (cfDNA) analysis by whole exome sequencing (WES) paired with target sequencing was realized in sequential liquid biopsy samples of 19 NB patients. RESULTS: WES of the primary tumor and cfDNA at diagnosis showed overlap of Single Nucleotide Variants (SNVs) and Copy Number Alterations (CNAs), with 41% and 93% of all detected alterations common to the primary NB and cfDNA...
November 30, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/29190622/classifying-apnea-of-prematurity-by-transcutaneous-electromyography-of-the-diaphragm
#17
Juliette V Kraaijenga, Gerard J Hutten, Cornelia G de Waal, Frans H de Jongh, Wes Onland, Anton H van Kaam
BACKGROUND: Treatment of apnea is highly dependent on the type of apnea. Chest impedance (CI) has inaccuracies in monitoring respiration, which compromises accurate apnea classification. Electrical activity of the diaphragm measured by transcutaneous electromyography (EMG) is feasible in preterm infants and might improve the accuracy of apnea classification. OBJECTIVES: To compare the accuracy of apnea classification based on diaphragmatic EMG (dEMG) and CI tracings in preterm infants...
December 1, 2017: Neonatology
https://www.readbyqxmd.com/read/29187737/the-role-of-cnvs-in-the-etiology-of-rare-autosomal-recessive-disorders-the-example-of-trappc9-associated-intellectual-disability
#18
Jérémie Mortreux, Tiffany Busa, Dominique P Germain, Gwenaël Nadeau, Jacques Puechberty, Christine Coubes, Vincent Gatinois, Pierre Cacciagli, Yannis Duffourd, Jean-Marc Pinard, Hélène Tevissen, Laurent Villard, Damien Sanlaville, Nicole Philip, Chantal Missirian
INTRODUCTION: A large number of genes involved in autosomal recessive forms of intellectual disability (ID) were identified over the past few years through whole-exome sequencing (WES) or whole-genome sequencing in consanguineous families. Disease-associated variants in TRAPPC9 were reported in eight multiplex consanguineous sibships from different ethnic backgrounds, and led to the delineation of the phenotype. Affected patients have microcephaly, obesity, normal motor development, severe ID, and language impairment and brain anomalies...
November 29, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29181379/molecular-autopsy-for-sudden-death-in-the-young-is-data-aggregation-the-key
#19
Manuel Rueda, Jennifer L Wagner, Tierney C Phillips, Sarah E Topol, Evan D Muse, Jonathan R Lucas, Glenn N Wagner, Eric J Topol, Ali Torkamani
The Scripps molecular autopsy study seeks to incorporate genetic testing into the postmortem examination of cases of sudden death in the young (<45 years old). Here, we describe the results from the first 2 years of the study, which consisted of whole exome sequencing (WES) of a cohort of 50 cases predominantly from San Diego County. Apart from the individual description of cases, we analyzed the data at the cohort-level, which brought new perspectives on the genetic causes of sudden death. We investigated the advantages and disadvantages of using WES compared to a gene panel for cardiac disease (usually the first genetic test used by medical examiners)...
2017: Frontiers in Cardiovascular Medicine
https://www.readbyqxmd.com/read/29180661/identification-of-novel-genetic-loci-gal3st4-and-chgb-involved-in-susceptibility-to-leprosy
#20
Youhua Yuan, Yuangang You, Yan Wen, Jian Liu, Huanying Li, Yumeng Zhang, Nan Wu, Shuang Liu, Shanshan Zhang, Jiazhen Chen, Jingwen Ai, Wenhong Zhang, Ying Zhang
Leprosy has long been thought to have a strong genetic component, and so far, only positional cloning and genomewide association studies have been used to study the genetic susceptibility to leprosy,while whole exome sequencing (WES) approach has not yet been applied. In this study, we used WES approach on four leprosy patients and four healthy control relatives from two leprosy families. We found three new susceptible loci of leprosy, one in GAL3ST4 and two in CHGB. We went on to validate the findings of WES using 151 leprosy cases and 226 healthy controls by Sanger sequencing...
November 27, 2017: Scientific Reports
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