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https://www.readbyqxmd.com/read/29668072/a-unique-telomere-dna-expansion-phenotype-in-human-retinal-rod-photoreceptors-associated-with-aging-and-disease
#1
W Robert Bell, Alan K Meeker, Anthony Rizzo, Sumit Rajpara, Ian M Rosenthal, Miguel Flores Bellver, Silvia Aparicio Domingo, Xiufeng Zhong, John R Barber, Corinne E Joshu, M Valeria Canto-Soler, Charles G Eberhart, Christopher M Heaphy
We have identified a discrete, focal telomere DNA expansion phenotype in the photoreceptor cell layer of normal, non-neoplastic human retinas. This phenotype is similar to that observed in a subset of human cancers, including a large fraction of tumors of the central nervous system, which maintain their telomeres via the non-telomerase-mediated alternative lengthening of telomeres (ALT) mechanism. We observed that these large, ultra-bright telomere DNA foci are restricted to the rod photoreceptors and are not observed in other cell types...
April 18, 2018: Brain Pathology
https://www.readbyqxmd.com/read/29667892/ct-colonography-performance-for-the-detection-of-polyps-and-cancer-in-adults-%C3%A2-65-years-old-systematic-review-and-meta-analysis
#2
Perry J Pickhardt, Loredana Correale, Silvia Delsanto, Daniele Regge, Cesare Hassan
OBJECTIVE: We sought to perform a systematic review and meta-analysis of published CT colonography (CTC) studies assessing lesion detection in senior-age (≥ 65 years old) cohorts. MATERIALS AND METHODS: We conducted a systematic review of CTC studies published between January 1994 and August 2017 containing data on senior-age adults. The primary endpoint was the CTC-positive rate for large colorectal polyps (≥ 10 mm) and masses. Secondary endpoints included lesions ≥ 6 mm, proven advanced neoplasia, and colorectal cancer (CRC)...
April 18, 2018: AJR. American Journal of Roentgenology
https://www.readbyqxmd.com/read/29667546/seminal-supar-levels-as-marker-of-abacterial-male-accessory-gland-inflammation-in-hypogonadism
#3
Domenico Milardi, Giuseppe Grande, Chiara Autilio, Francesca Mancini, Laura De Marinis, Riccardo Marana, Cecilia Zuppi, Andrea Urbani, Alfredo Pontecorvi, Silvia Baroni
Recent evidences suggest that hypogonadism is an important risk factor for lower urinary tract symptoms and benign prostatic hyperplasia. Several papers have discussed the role of chronic inflammation in the development of BPH, which may be modulated by the hypogonadal state. Soluble urokinase-type plasminogen activator receptor (suPAR), known protein marker of systemic inflammation, can be assayed in the seminal plasma and represents a reliable and sensitive marker of inflammation for the male accessory gland inflammation (MAGI)...
April 18, 2018: Protein and Peptide Letters
https://www.readbyqxmd.com/read/29666998/male-dna-under-female-fingernails-after-scratching-transfer-and-persistence-evaluation-by-rt-pcr-analysis-and-y-str-typing
#4
Alessandra Iuvaro, Carla Bini, Silvia Dilloo, Stefania Sarno, Susi Pelotti
The collection of biological debris beneath fingernails can be useful in forensic casework when a struggle between the victim and the offender is suspected. In the present study, we set up a controlled scratching experiment in which female volunteers scratched the male volunteers' forearms, simulating a defensive action during an assault. A total of 160 fingernail samples were collected: 80 "control samples" before the scratching, 40 samples immediately after the scratching (t = 0 h), and 40 samples 5 h after the scratching (t = 5 h)...
April 17, 2018: International Journal of Legal Medicine
https://www.readbyqxmd.com/read/29666450/novel-hla-class-i-associations-with-hiv-1-control-in-a-unique-genetically-admixed-population
#5
Humberto Valenzuela-Ponce, Selma Alva-Hernández, Daniela Garrido-Rodríguez, Maribel Soto-Nava, Thalía García-Téllez, Tania Escamilla-Gómez, Claudia García-Morales, Verónica Sonia Quiroz-Morales, Daniela Tapia-Trejo, Silvia Del Arenal-Sánchez, Francisco-Javier Prado-Galbarro, Ramón Hernández-Juan, Edna Rodríguez-Aguirre, Akio Murakami-Ogasawara, Carlos Mejía-Villatoro, Ingrid Y Escobar-Urias, Rodolfo Pinzón-Meza, Juan Miguel Pascale, Yamitzel Zaldivar, Guillermo Porras-Cortés, Carlos Quant-Durán, Ivette Lorenzana, Rita I Meza, Elsa Y Palou, Marvin Manzanero, Rolando A Cedillos, Carmen Aláez, Mark A Brockman, P Richard Harrigan, Chanson J Brumme, Zabrina L Brumme, Santiago Ávila-Ríos, Gustavo Reyes-Terán
Associations between HLA class I alleles and HIV progression in populations exhibiting Amerindian and Caucasian genetic admixture remain understudied. Using univariable and multivariable analyses we evaluated HLA associations with five HIV clinical parameters in 3,213 HIV clade B-infected, ART-naïve individuals from Mexico and Central America (MEX/CAM cohort). A Canadian cohort (HOMER, n = 1622) was used for comparison. As expected, HLA allele frequencies in MEX/CAM and HOMER differed markedly. In MEX/CAM, 13 HLA-A, 24 HLA-B, and 14 HLA-C alleles were significantly associated with at least one clinical parameter...
April 17, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29666241/muscularis-macrophage-development-in-the-absence-of-an-enteric-nervous-system
#6
Marina Avetisyan, Julia E Rood, Silvia Huerta Lopez, Rajarshi Sengupta, Elizabeth Wright-Jin, Joseph D Dougherty, Edward M Behrens, Robert O Heuckeroth
The nervous system of the bowel regulates the inflammatory phenotype of tissue resident muscularis macrophages (MM), and in adult mice, enteric neurons are the main local source of colony stimulating factor 1 (CSF1), a protein required for MM survival. Surprisingly, we find that during development MM colonize the bowel before enteric neurons. This calls into question the requirement for neuron-derived CSF1 for MM colonization of the bowel. To determine if intestinal innervation is required for MM development, we analyzed MM of neonatal Ret -/- ( Ret KO) mice that have no enteric nervous system in small bowel or colon...
April 17, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29666006/deletion-of-runx1-exons-1-and-2-associated-with-familial-platelet-disorder-with-propensity-to-acute-myeloid-leukemia
#7
Marcela Cavalcante de Andrade Silva, Ana Cristina Victorino Krepischi, Leslie Domenici Kulikowski, Evelin Aline Zanardo, Luciana Nardinelli, Aline Medeiros Leal, Silvia Souza Costa, Nair Hideki Muto, Vanderson Rocha, Elvira Deolinda Rodrigues Pereira Velloso
Familial platelet disorder with propensity to acute myeloid leukemia (FPD/AML) associated with RUNX1 mutations is an autosomal dominant disorder included in the group of the myeloid neoplasms with germ line predisposition. We describe two brothers who were diagnosed with hematological malignancies (one with AML and the other with T-cell lymphoblastic lymphoma). There was a history of leukemia in the paternal family and two of their siblings presented with low platelet counts and no history of significant bleeding...
April 2018: Cancer Genetics
https://www.readbyqxmd.com/read/29665615/correction-development-and-validation-of-the-simple-endoscopic-classification-of-diminutive-and-small-colorectal-polyps
#8
Marietta Iacucci, Cristina Trovato, Marco Daperno, Oluseyi Akinola, David Greenwald, Seth A Gross, Arthur Hoffman, Jeffrey Lee, Brendan C Lethebe, Mark Lowerison, Jennifer Nayor, Helmut Neumann, Timo Rath, Silvia Sanduleanu, Prateek Sharma, Ralf Kiesslich, Subrata Ghosh, John R Saltzman
No abstract text is available yet for this article.
April 17, 2018: Endoscopy
https://www.readbyqxmd.com/read/29665563/exploring-the-relationships-among-personality-traits-burnout-dimensions-and-stigma-in-a-sample-of-mental-health-professionals
#9
Leonardo Zaninotto, Genny Rossi, Andrea Danieli, Alberto Frasson, Leonardo Meneghetti, Maria Zordan, Paolo Tito, Beatrice Salvetti, Andreas Conca, Roberta Ferranti, Silvia Salcuni, Marco Solmi
A sample of mental health professionals (n = 215) from six Community Mental Health Services was examined using a short version of the Attribution Questionnaire-27, the Maslach Burnout Inventory and the Ten Items Personality Inventory to detect possible associations among stigma, burnout dimensions and personality traits. The role of demographic and professional variables was also explored. Perception of workplace safety resulted to significantly affect attitudes toward patients. The concern about being assaulted and a low level of Personal Accomplishment were both related to avoidant attitudes, while the presence of procedures for managing the violent patient was associated with a higher level of Personal Accomplishment...
April 7, 2018: Psychiatry Research
https://www.readbyqxmd.com/read/29664973/introducing-automation-to-the-molecular-diagnosis-of-trypanosoma-cruzi-infection-a-comparative-study-of-sample-treatments-dna-extraction-methods-and-real-time-pcr-assays
#10
Alba Abras, Cristina Ballart, Teresa Llovet, Carme Roig, Cristina Gutiérrez, Silvia Tebar, Pere Berenguer, María-Jesús Pinazo, Elizabeth Posada, Joaquim Gascón, Alejandro G Schijman, Montserrat Gállego, Carmen Muñoz
BACKGROUND: Polymerase chain reaction (PCR) has become a useful tool for the diagnosis of Trypanosoma cruzi infection. The development of automated DNA extraction methodologies and PCR systems is an important step toward the standardization of protocols in routine diagnosis. To date, there are only two commercially available Real-Time PCR assays for the routine laboratory detection of T. cruzi DNA in clinical samples: TCRUZIDNA.CE (Diagnostic Bioprobes Srl) and RealCycler CHAG (Progenie Molecular)...
2018: PloS One
https://www.readbyqxmd.com/read/29664936/olfactory-dysfunction-as-a-prognostic-marker-for-disability-progression-in-multiple-sclerosis-an-olfactory-event-related-potential-study
#11
Rosella Ciurleo, Lilla Bonanno, Simona De Salvo, Laura Romeo, Carmela Rifici, Edoardo Sessa, Giangaetano D'Aleo, Margherita Russo, Placido Bramanti, Silvia Marino, Fabrizia Caminiti
Multiple sclerosis (MS) is a chronic inflammatory disease and one of the leading causes of disability in young adults. Functional markers able to predict MS progression are still lacking. It is recognized that olfactory dysfunction may be an early symptom in MS. The aim of this study was to investigate whether alterations in olfactory event-related potentials could play a prognostic role in MS. Thirty patients affected by MS relapsing-remitting underwent an olfactory potential examination (T0). Three years after baseline (T1), 28 of 30 patients were clinically evaluated by expanded disability status scale...
2018: PloS One
https://www.readbyqxmd.com/read/29664903/on-the-role-of-extrinsic-noise-in-microrna-mediated-bimodal-gene-expression
#12
Marco Del Giudice, Stefano Bo, Silvia Grigolon, Carla Bosia
Several studies highlighted the relevance of extrinsic noise in shaping cell decision making and differentiation in molecular networks. Bimodal distributions of gene expression levels provide experimental evidence of phenotypic differentiation, where the modes of the distribution often correspond to different physiological states of the system. We theoretically address the presence of bimodal phenotypes in the context of microRNA (miRNA)-mediated regulation. MiRNAs are small noncoding RNA molecules that downregulate the expression of their target mRNAs...
April 17, 2018: PLoS Computational Biology
https://www.readbyqxmd.com/read/29663838/discriminant-ability-and-criterion-validity-of-the-trunk-impairment-scale-for-cerebral-palsy
#13
Sílvia Leticia Pavão, Davi Adiwardana Maeda, Carolina Corsi, Mariana Martins Dos Santos, Carolina Souza N da Costa, Ana Carolina de Campos, Nelci Adriana Cicuto Ferreira Rocha
AIMS: To compare the performance of children with mild and moderate-to-severe cerebral palsy (CP) on the Trunk Impairment Scale (TIS), Gross Motor Function Measure (GMFM), and on center-of-pressure variables; to establish the discriminant ability of these tools to predict severity of motor impairment in CP; and to investigate the criterion validity of the TIS. METHODS: Children with mild (n = 18, 11 males, 7 females, mean age = 9.5 ± 2.9 years, Gross Motor Function Classification System I-II) and moderate-to-severe (n = 18, 11 males, 7 females, mean age = 9...
April 17, 2018: Disability and Rehabilitation
https://www.readbyqxmd.com/read/29663667/a-novel-splice-site-variant-in-itpr1-gene-underlying-recessive-gillespie-syndrome
#14
Leda Paganini, Chiara Pesenti, Donatella Milani, Laura Fontana, Silvia Motta, Silvia Maria Sirchia, Giulietta Scuvera, Paola Marchisio, Susanna Esposito, Claudia Maria Cinnante, Silvia Maria Tabano, Monica Rosa Miozzo
Gillespie syndrome (GLSP) is a rare congenital disorder characterized by partial aniridia, hypotonia, progressive cerebellar hypoplasia, nonprogressive ataxia, and intellectual disability. All causative variants to date affect the central or the 3'-terminal domains of ITPR1 gene and exhibit autosomal recessive or dominant inheritance pattern. We investigated by exome sequencing the molecular cause of GLSP in a family composed by consanguineous healthy parents, two affected siblings and one healthy son. We found the novel splice site variant c...
April 16, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29663641/congenital-heart-diseases-and-cardiovascular-abnormalities-in-22q11-2-deletion-syndrome-from-well-established-knowledge-to-new-frontiers
#15
REVIEW
Marta Unolt, Paolo Versacci, Silvia Anaclerio, Caterina Lambiase, Giulio Calcagni, Matteo Trezzi, Adriano Carotti, Terrence Blaine Crowley, Elaine H Zackai, Elizabeth Goldmuntz, James William Gaynor, Maria Cristina Digilio, Donna M McDonald-McGinn, Bruno Marino
Congenital heart diseases (CHDs) and cardiovascular abnormalities are one of the pillars of clinical diagnosis of 22q11.2 deletion syndrome (22q11.2DS) and still represent the main cause of mortality in the affected children. In the past 30 years, much progress has been made in describing the anatomical patterns of CHD, in improving their diagnosis, medical treatment, and surgical procedures for these conditions, as well as in understanding the underlying genetic and developmental mechanisms. However, further studies are still needed to better determine the true prevalence of CHDs in 22q11...
April 16, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29663358/a-case-control-study-of-hiv-infection-and-cancer-in-the-era-of-antiretroviral-therapy-in-rwanda
#16
Tharcisse Mpunga, Ariana Znaor, F Regis Uwizeye, Aline Uwase, Cyprien Munyanshongore, Silvia Franceschi, Gary M Clifford
The aim of our study was to assess the association between HIV infection and cancer risk in Rwanda approximately a decade after the introduction of antiretroviral therapy (cART). All persons seeking cancer care at Butaro Cancer Center of Excellence (BCCOE) in Rwanda from 2012 to 2016 were routinely screened for HIV, prior to being confirmed with or without cancer (cases and controls, respectively). Cases were coded according to ICD-O-3 and converted to ICD10. Associations between individual cancer types and HIV were estimated using adjusted unconditional logistic regression...
April 16, 2018: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/29663054/field-evaluation-of-three-sources-of-genetic-resistance-to-sudden-death-syndrome-of-soybean
#17
Lillian F Brzostowski, Timothy I Pruski, Glen L Hartman, Jason P Bond, Dechun Wang, Silvia R Cianzio, Brian W Diers
Despite numerous challenges, field testing of three sources of genetic resistance to sudden death syndrome of soybean provides information to more effectively improve resistance to this disease in cultivars. Sudden death syndrome (SDS) of soybean [Glycine max (L.) Merrill] is a disease that causes yield loss in soybean growing regions across the USA and worldwide. While several quantitative trait loci (QTL) for SDS resistance have been mapped, studies to further evaluate these QTL are limited. The objective of our research was to map SDS resistance QTL and to test the effect of mapped resistance QTL on foliar symptoms when incorporated into elite soybean backgrounds...
April 16, 2018: TAG. Theoretical and Applied Genetics. Theoretische und Angewandte Genetik
https://www.readbyqxmd.com/read/29662632/regulation-of-breast-cancer-induced-bone-disease-by-cancer-specific-ikk%C3%AE
#18
Silvia Marino, Ryan T Bishop, Mattia Capulli, Antonia Sophocleous, John G Logan, Patrick Mollat, Barbara Mognetti, Luca Ventura, Andrew H Sims, Nadia Rucci, Stuart H Ralston, Aymen I Idris
NFκB is implicated in breast cancer bone metastasis and skeletal remodelling. However, the role of IKKβ, a key component of the canonical NFκB pathway, in the regulation of breast cancer osteolytic metastasis has not been investigated. Here, we describe the cancer-specific contribution of IKKβ to bone metastasis, skeletal tumour growth and osteolysis associated with breast cancer. IKKβ is highly expressed in invasive breast tumours and its level of expression was higher in patients with bone metastasis...
March 23, 2018: Oncotarget
https://www.readbyqxmd.com/read/29662550/radiotherapy-and-checkpoint-inhibitors-a-winning-new-combination
#19
REVIEW
Eric C Ko, Silvia C Formenti
Immune checkpoint blockade has recently emerged as an important therapeutic approach to the management of malignancies across multiple disease settings. Concomitantly, there has been an increasing appreciation for the role of radiotherapy in eliciting and promoting tumor-directed immune responses. In this review, we discuss the clinical evidence to date on combinations of radiotherapy with immune checkpoint inhibitors, both from the standpoint of safety and efficacy. We highlight important but yet-unanswered questions for this combination approach, as well as their implications for future prospective studies...
2018: Therapeutic Advances in Medical Oncology
https://www.readbyqxmd.com/read/29662473/hu-of-streptococcus-pneumoniae-is-essential-for-the-preservation-of-dna-supercoiling
#20
María-José Ferrándiz, David Carreño, Silvia Ayora, Adela G de la Campa
The histone-like protein HU is a conserved nucleoid-associated protein that is involved in the maintenance of the bacterial chromosome architecture. It is the only known nucleoid-associated protein in Streptococcus pneumoniae , but it has not been studied. The pneumococcal gene encoding this protein, hlp , is shown herein to be essential for cell viability. Its disruption was only possible either when it was duplicated in the chromosome and its expression induced from the P Zn promoter, or when hlp was cloned into a plasmid under the control of the inducible P mal promoter...
2018: Frontiers in Microbiology
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