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Rajarshi Ghosh, Steven M Harrison, Heidi L Rehm, Sharon E Plon, Leslie G Biesecker
The Clinical Genome Resource (ClinGen) Sequence Variant Interpretation Working Group set out to refine the American College of Medical Genetics and Genomics and the Association of Molecular Pathologists (ACMG/AMP) variant pathogenicity recommendations for stand-alone rule BA1 (a variant with minor allele frequency [MAF] > 0.05 is benign), by clarifying how it should be used and specifying a set of variants that should be exempted from this rule. We cross-referenced ClinVar and Exome Aggregation Consortium data to identify variants for which there was a plausible argument for pathogenicity and the variant exists in one or more population data sets at MAF > 0...
November 2018: Human Mutation
Juan José Ramos-Álvarez, Nicola Maffulli, Nicola Luigi Bragazzi, Luca Paolo Ardigò, Elena Jiménez-Herranz, Cristina Naranjo-Ortiz, Johnny Padulo, Francisco Javier Calderón Montero
OBJECTIVE: In this cross-sectional study, we compared Spanish division one (n  =  114) and division two (n  =  80) soccer players in terms of their cardio-respiratory response during recovery following a maximum laboratory effort test. APPROACH: Following the maximum laboratory effort protocol, we measured oxygen consumption ([Formula: see text]), heart rate (HR), and ventilation ([Formula: see text]) during recovery. MAIN RESULTS: Over the first 60 s of recovery, no significant differences were seen in either [Formula: see text] (28...
October 11, 2018: Physiological Measurement
Jodi M Carter, Yanhong Wu, Melissa M Blessing, Andrew L Folpe, Erik C Thorland, Robert J Spinner, Mark E Jentoft, Chen Wang, Saurabh Baheti, Zhiyv Niu, Michelle L Mauermann, Christopher J Klein
Perineuriomas are rare nerve sheath tumors, divided into intraneural and extraneural (soft tissue) types. Intraneural perineuriomas frequently contain TRAF7 mutations, and rarely, chr22q12 deletions. While chr22q losses can occur in soft tissue perineuriomas, comprehensive high-resolution molecular profiling has not been reported in these tumors and TRAF7 status is unknown. We used whole-exome sequencing and OncoScan single nucleotide polymorphism (SNP) array to evaluate 14 soft tissue perineuriomas. Thirteen cases showed 2 or more chromosomal abnormalities, composed primarily of large deletions...
October 9, 2018: American Journal of Surgical Pathology
Tao Wei, Qi Zhang, Xiang Li, Wei Su, Guogang Li, Tao Ma, Shunliang Gao, Jianying Lou, Risheng Que, Lei Zheng, Xueli Bai, Tingbo Liang
We aimed to explore the application of circulating cell-free DNA (cfDNA) profiling in monitoring tumor burden in patients with pancreatic ductal adenocarcinoma (PDAC). Thirty-eight advanced PDAC patients receiving first-line FOLFIRINOX chemotherapy were prospectively enrolled. Next-generation sequencing for a panel of 560 genes covering a wide range of cancer-related loci was performed to profile cfDNA. In total, twenty-five patients (65.8%) had at least one common driver gene alterations (KRAS, TP53, SMAD4, CDKN2A) detected within cfDNA...
October 9, 2018: Molecular Cancer Therapeutics
Tong-Min Wang, Guo-Ping Shen, Ming-Yuan Chen, Jiang-Bo Zhang, Ying Sun, Jing He, Wen-Qiong Xue, Xi-Zhao Li, Shao-Yi Huang, Xiao-Hui Zheng, Shao-Dan Zhang, Ye-Zhu Hu, Hai-De Qin, Jin-Xin Bei, Jun Ma, Jianbing Mu, Yin Yao Shugart, Wei-Hua Jia
Background: Radiation-induced brain injury is a nonnegligible issue in the management of cancer patients treated by partial or whole brain irradiation. In particular, temporal lobe injury (TLI), a deleterious late complication in nasopharyngeal carcinoma, greatly affects the long-term life quality of these patients. Although genome-wide association studies (GWASs) have successfully identified single nucleotide polymorphisms (SNPs) associated with radiation toxicity, genetic variants contributing to the radiation-induced brain injury have not yet been assessed...
October 8, 2018: Journal of the National Cancer Institute
Amal A Senusi, Jie Liu, Dorian Bevec, Lesley A Bergmeier, Miles Stanford, Desmond Kidd, Ali Jaward, Steve Higgins Higgins, Farida Fortune
OBJECTIVES: Patients with Behçet's disease (BD) constantly complain of fatigue and many have problems with poor sleep. This ultimately has a major impact on all aspects of normal living. To attempt to understand this, Artificial Intelligence (AI) was used to identify potential biomarkers. These were alpha-melanocyte stimulating hormone (α-MSH), vasoactive intestinal peptide (VIP) and some inflammatory cytokines. We assessed the association of fatigue, quality of sleep and disease activity with circulating concentration of α-MSH, VIP and inflammatory cytokines...
October 5, 2018: Clinical and Experimental Rheumatology
Yan-Fang Wang, Hua Wang, Lian-Yong Xi, Zhen-Hao Zhang, Jing Wang, Fei Dong, Xiao-Yan Ke
OBJECTIVE: To detect the molecular cytogenetic abnormalities of multiple myeloma (MM) by using microrray-based comparative genomic hybridization (array-CGH) technology and to investigate its value of application in MM. METHODS: The whole-genoine copy number variants (CNV) of bone marrow samples acquired from 20 cases of newly diagnosed MM patients were detected by genome-wide hybridization and scanning by CytoScan 750K Array (Affymetrix). At the same time, the chromosome abnormalities of bone marrow cells were detected by karyotype analysis and FISH using 9 specific probes: D13S319, RB1, p53, 1q21, IgH, IgH/CCND1, IgH/FGFR3, IgH/MAF, IgH/MAFB...
October 2018: Zhongguo Shi Yan Xue Ye Xue za Zhi
Laura Stefani, Riggs Klika, Gabriele Mascherini, Francesca Mazzoni, Alice Lunghi, Cristian Petri, Paolo Petreni, Francesco Di Costanzo, Nicola Maffulli, Giorgio Galanti
BACKGROUND: Aerobic and resistance exercises have been promoted recently to improve quality of life in cancer patients. Most cancer survivorship rehabilitation programs consists of supervised exercise programs; however, less data is available on the effects of unsupervised or home-based exercise interventions. The study aimed to compare the physical and physiologic changes in a group of cancer survivors (CS) and a control group of non-cancer, health controls (HC) who participated in individualized home-based aerobic and resistance exercises for 12 months...
October 1, 2018: Journal of Sports Medicine and Physical Fitness
Aijie Liu, Xiaoxu Yang, Xiaoling Yang, Qixi Wu, Jing Zhang, Dan Sun, Zhixian Yang, Yuwu Jiang, Xiru Wu, Liping Wei, Yuehua Zhang
BACKGROUND: Mutations in the PCDH19 gene have mainly been reported in female patients with epilepsy. To date, PCDH19 mutations have been reported in hundreds of females and only in 10 mosaic male epileptic patients with mosaicism. OBJECTIVE: We aimed to investigate the occurrence of mosaic PCDH19 mutations in 42 families comprising at least one patient with PCDH19 -related epilepsy. METHODS: Two male patients with mosaic PCDH19 variants were identified using targeted next-generation sequencing...
October 4, 2018: Journal of Medical Genetics
Ovidio Catanzano, Alessandra Soriente, Annalisa La Gatta, Marcella Cammarota, Giulia Ricci, Ines Fasolino, Chiara Schiraldi, Luigi Ambrosio, Mario Malinconico, Paola Laurienzo, Maria Grazia Raucci, Giovanna Gomez d'Ayala
Nowadays, the need of novel strategies to repair and regenerate bone defects in the field of biomedical applications has increased. Novel approaches include the design of natural bioactive scaffolds mimicking bone tissue. These bioactive scaffolds have to possess biophysical properties suitable to address biological response towards newly bone tissue formation. In particular, scaffold porosity and pore size play a pivotal role in cell migration, adhesion and proliferation, thus increasing cell-material surface interaction and osteogenic signals transmission...
December 15, 2018: Carbohydrate Polymers
Takao Nammo, Haruhide Udagawa, Nobuaki Funahashi, Miho Kawaguchi, Takashi Uebanso, Masaki Hiramoto, Wataru Nishimura, Kazuki Yasuda
AIMS/HYPOTHESIS: Epigenetic regulation of gene expression has been implicated in the pathogenesis of obesity and type 2 diabetes. However, detailed information, such as key transcription factors in pancreatic beta cells that mediate environmental effects, is not yet available. METHODS: To analyse genome-wide cis-regulatory profiles and transcriptome of pancreatic islets derived from a diet-induced obesity (DIO) mouse model, we conducted chromatin immunoprecipitation coupled with high-throughput sequencing (ChIP-Seq) of histone H3 lysine 27 acetylation (histone H3K27ac) and high-throughput RNA sequencing...
October 3, 2018: Diabetologia
Amira Refai, Sami Gritli, Mohamed-Ridha Barbouche, Makram Essafi
Tuberculosis, a human infectious disease caused by Mycobacterium tuberculosis ( M.tb ), is still a major cause of morbidity and mortality worldwide. The success of M.tb as a pathogen relies mainly on its ability to divert the host innate immune responses. One way by which M.tb maintains a persistent infection in a "silent" granuloma is to inhibit inflammation and induce an immunoregulatory phenotype in host macrophages (MΦs). However, M.tb effectors governing the switch of MΦs from the pro-inflammatory M1 to the anti-inflammatory M2 phenotype remain to be determined...
2018: Frontiers in Cellular and Infection Microbiology
Anna Mensa-Vilaró, María Bravo García-Morato, Oscar de la Calle-Martin, Clara Franco-Jarava, María Teresa Martínez-Saavedra, Luis I González-Granado, Eva González-Roca, Jose Luis Fuster, Laia Alsina, Osvaldo M Mutchinick, Angélica Balderrama-Rodríguez, Eduardo Ramos, Consuelo Modesto, Pablo Mesa-Del-Castillo, Norberto Ortego-Centeno, Daniel Clemente, Alejandro Souto, Natalia Palmou, Agustín Remesal, Kieron S Leslie, Enrique Gómez de la Fuente, Luz Yadira Bravo Gallego, Josep María Campistol, Naouel Guirat Dhouib, Mohamed Bejaoui, Lívia Almeida Dutra, Maria Teresa Terreri, Catalina Mosquera, Tatiana González, Jerónima Cañellas, José María García-Ruiz de Morales, Carine H Wouters, María Teresa Bosque, Weng Tarng Cham, Santiago Jiménez-Treviño, Jaime de Inocencio, Markéta Bloomfield, Rebeca Pérez de Diego, Natalia Martínez-Pomar, Rebeca Rodríguez-Pena, Cecilia González-Santesteban, Pere Soler-Palacín, Ferran Casals, Jordi Yagüe, Luis M Allende, José Carlos Rodríguez-Gallego, Roger Colobran, Laura Martínez-Martínez, Eduardo López-Granados, Juan I Aróstegui
BACKGROUND: Post-zygotic de novo mutations lead to the phenomenon of gene mosaicism. The three main types are called somatic, gonadal and gonosomal mosaicism, which differ on the body distribution of post-zygotic mutations. Mosaicism has been occasionally reported in primary immunodeficiency diseases (PID) since early 90s, but its real involvement has not been systematically addressed. OBJECTIVE: To investigate the incidence of gene mosaicism in PID. METHODS: The amplicon-based deep sequencing method was employed in the three parts of the study that establish the allele frequency of germline variants (n:100), the incidence of parental gonosomal mosaicism in PID families with de novo mutations (n:92) and the incidence of mosaicism in PID families with moderate-to-high suspicious (n:36), respectively...
September 28, 2018: Journal of Allergy and Clinical Immunology
Gudjon R Oskarsson, Ragnar P Kristjansson, Amy L Lee, Gardar Sveinbjornsson, Magnus K Magnusson, Erna V Ivarsdottir, Stefania Benonisdottir, Asmundur Oddsson, Olafur B Davidsson, Jona Saemundsdottir, Gisli H Halldorsson, Joseph Arthur, Gudny A Arnadottir, Gisli Masson, Brynjar O Jensson, Hilma Holm, Isleifur Olafsson, Pall T Onundarson, Daniel F Gudbjartsson, Gudmundur L Norddahl, Unnur Thorsteinsdottir, Patrick Sulem, Kari Stefansson
The cytokine erythropoietin (EPO), signalling through the EPO receptor (EPO-R), is essential for the formation of red blood cells. We performed a genome-wide association study (GWAS) testing 32.5 million sequence variants for association with serum EPO levels in a set of 4187 individuals. We detect an association between a rare and well imputed stop-gained variant rs370865377[A] (p.Gln82Ter) in EPOR , carried by 1 in 550 Icelanders, and increased serum EPO levels (MAF = 0.09%, Effect = 1.47 SD, P  = 3...
2018: Communications biology
Dana C Crawford, Nicole A Restrepo, Kirsten E Diggins, Eric Farber-Eger, Quinn S Wells
BACKGROUND: High levels of triglycerides (TG ≥200 mg/dL) are an emerging risk factor for cardiovascular disease. Conversely, very low levels of TG are associated with decreased risk for cardiovascular disease. Precision medicine aims to capitalize on recent findings that rare variants such as APOC3 R19X (rs76353203) are associated with risk of disease, but it is unclear how population-based associations can be best translated in clinical settings at the individual-patient level. METHODS: To explore the potential usefulness of screening for genetic predictors of cardiovascular disease, we surveyed BioVU, the Vanderbilt University Medical Center's biorepository linked to de-identified electronic health records (EHRs), for APOC3 19X mutations among adult European American patients (> 45 and > 55 years of age for men and women, respectively) with the lowest percentile of TG levels...
September 14, 2018: BMC Medical Genomics
Hermenegildo Lucas Justino Chiaia, Elisa Peripolli, Rafael Medeiros de Oliveira Silva, Fabiele Loise Braga Feitosa, Marcos Vinícius Antunes de Lemos, Mariana Piatto Berton, Bianca Ferreira Olivieri, Rafael Espigolan, Rafael Lara Tonussi, Daniel Gustavo Mansan Gordo, Lucia Galvão de Albuquerque, Henrique Nunes de Oliveira, Adrielle Mathias Ferrinho, Lenise Freitas Mueller, Sabrina Kluska, Humberto Tonhati, Angélica Simone Cravo Pereira, Ignacio Aguilar, Fernando Baldi
The aim of the present study was to compare the predictive ability of SNP-BLUP model using different pseudo-phenotypes such as phenotype adjusted for fixed effects, estimated breeding value, and genomic estimated breeding value, using simulated and real data for beef FA profile of Nelore cattle finished in feedlot. A pedigree with phenotypes and genotypes of 10,000 animals were simulated, considering 50% of multiple sires in the pedigree. Regarding to phenotypes, two traits were simulated, one with high heritability (0...
November 2018: Journal of Applied Genetics
Sanjib Banerjee, Judith Schmidt, Yeshayahu Talmon, Hisao Hori, Takuma Asai, Bruno Ameduri
An original degradable fluorinated surfactant, 3-hydroxy-2-(trifluoromethyl)propanoic acid (MAF-OH), was applied for the emulsion polymerization of vinylidene fluoride (VDF) to yield a latex of PVDF, consisting of typically 100 nm particle diameters. This surfactant was shown to be easily decomposed in subcritical water, releasing fluoride anions. The % reversed head-to head (H-H) addition is greatly minimized (2.4%) in the PVDF, prepared in the presence of MAF-OH surfactant.
October 9, 2018: Chemical Communications: Chem Comm
Aaron Seo, Suleyman Gulsuner, Sarah Pierce, Miri Ben-Harosh, Hanna Shalev, Tom Walsh, Tanya Krasnov, Orly Dgany, Sergei Doulatov, Hannah Tamary, Akiko Shimamura, Mary-Claire King
Severe thrombocytopenia, characterized by dysplastic megakaryocytes and intracranial bleeding, was diagnosed in six individuals from a consanguineous kindred. Three of the individuals were successfully treated by bone marrow transplant. Whole exome sequencing and homozygosity mapping of multiple family members, coupled with whole genome sequencing to reveal shared non-coding variants, revealed one potentially functional variant segregating with thrombocytopenia under a recessive model: GALE p.R51W (c.C151T, NM_001127621)...
September 20, 2018: Human Molecular Genetics
Isabel Andia, Nicola Maffulli
The positive extensive clinical experience with platelet-rich plasma (PRP) in different medical areas has prompted researchers to explore clinical opportunities for optimized PRP therapies. PRP is safe but we have to make it more effective. The growing diversity of formulations and presentations enrich the field of PRP research and offer hope to refine clinical indications. Moving toward targeting the right disease phenotypes with the right PRP formulation or combination product (PRP + cell products) can offer opportunities to change treatment options in osteoarthritis and nonhealing wounds...
September 24, 2018: Regenerative Medicine
Vincent Bernard, Dong U Kim, F Anthony San Lucas, Jonathan Castillo, Kelvin Allenson, Feven C Mulu, Bret M Stephens, Jonathan Huang, Alexander Semaan, Paola A Guerrero, Nabiollah Kamyabi, Jun Zhao, Mark W Hurd, Eugene J Koay, Cullen Taniguchi, Joseph M Herman, Milind Javle, Robert Wolff, Matthew Katz, Gauri Varadhachary, Anirban Maitra, Hector A Alvarez
BACKGROUND & AIMS: We aimed to investigate the clinical utility of circulating tumor cell DNA (ctDNA) and exosome DNA (exoDNA) in pancreatic cancer. METHODS: We collected liquid biopsies from 194 patients undergoing treatment for localized or metastatic pancreatic adenocarcinoma from April 7, 2015 through October 13, 2017 (425 blood samples collected before (baseline) and during therapy). Additional liquid biopsies were collected from 37 disease controls. Droplet digital PCR was used to determine KRAS mutant allele fraction (MAF) from ctDNA and exoDNA purified from plasma...
September 18, 2018: Gastroenterology
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