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101.
Paula Navas Tejedor Julián Palomino Doza Jair Antonio Tenorio Castaño Ana Belén Enguita Valls José Julián Rodríguez Reguero Amaya Martínez Meñaca Ignacio Hernández González Héctor Bueno Zamora Pablo Daniel Lapunzina Badía Pilar Escribano Subías 《Revista espa?ola de cardiología》2018,71(2):86-94
Introduction and objectives
Hereditary pulmonary veno-occlusive disease (PVOD) has been associated with biallelic mutations in EIF2AK4 with the recent discovery of a founder mutation in Iberian Romani patients with familial PVOD. The aims of this study were phenotypical characterization and survival analysis of Iberian Romani patients with familial PVOD carrying the founder p.Pro1115Leu mutation in EIF2AK4, according to their tolerance to pulmonary vasodilators (PVD). Familial genetic screening was conducted, as well as assessment of sociocultural determinants with a potential influence on disease course.Methods
Observational study of Romani patients with familial PVOD included in the Spanish Registry of Pulmonary Arterial Hypertension. Genetic screening of EIF2AK4 was performed in index cases and relatives between November 2011 and July 2016 and histological pulmonary examination was carried out in patients who received a lung transplant or died. The patients were divided into 2 groups depending on their tolerance to PVD, with comparison of baseline characteristics and survival free of death or lung transplant.Results
Eighteen Romani patients were included: 9 index cases and 9 relatives. The biallelic founder mutation in EIF2AK4 was found in all affected cases and 2 unaffected relatives. Family screening showed 34.2% of healthy heterozygotes, high consanguinity, young age at childbirth, and frequent multiparity. Prognosis was bleak, with significant differences depending on tolerance to PVD.Conclusions
We describe 2 phenotypes of hereditary PVOD depending on tolerance to PVD, with prognostic impact and familial distribution. Consanguinity may have a negative impact on the transmission of PVOD, with familial genetic screening showing high effectiveness.Full English text available from: www.revespcardiol.org/en 相似文献102.
Linda Beneforti Erica Dander Silvia Bresolin Clara Bueno Denise Acunzo Mayla Bertagna Anthony Ford Bernhard Gentner Geertruy te Kronnie Patrizia Vergani Pablo Menéndez Andrea Biondi Giovanna D’Amico Chiara Palmi Giovanni Cazzaniga 《British journal of haematology》2020,190(2):262-273
ETV6-RUNX1 (E/R) fusion gene, arising in utero from translocation t(12;21)(p13:q22), is the most frequent alteration in childhood acute lymphoblastic leukemia (ALL). However, E/R is insufficient to cause overt leukemia since it generates a clinically silent pre-leukemic clone which persists in the bone marrow but fails to out-compete normal progenitors. Conversely, pre-leukemic cells show increased susceptibility to transformation following additional genetic insults. Infections/inflammation are the most accredited triggers for mutations accumulation and leukemic transformation in E/R+ pre-leukemic cells. However, precisely how E/R and inflammation interact in promoting leukemia is still poorly understood. Here we demonstrate that IL6/TNFα/ILβ pro-inflammatory cytokines cooperate with BM-MSC in promoting the emergence of E/R+ Ba/F3 over their normal counterparts by differentially affecting their proliferation and survival. Moreover, IL6/TNFα/ILβ-stimulated BM-MSC strongly attract E/R+ Ba/F3 in a CXCR2-dependent manner. Interestingly, E/R-expressing human CD34+IL7R+ progenitors, a putative population for leukemia initiation during development, were preserved in the presence of BM-MSC and IL6/TNFα/ILβ compared to their normal counterparts. Finally, the extent of DNA damage increases within the inflamed niche in both control and E/R-expressing Ba/F3, potentially leading to transformation in the apoptosis-resistant pre-leukemic clone. Overall, our data provide new mechanistic insights into childhood ALL pathogenesis. 相似文献
103.
Antonio Pérez-Martínez Cristina Ferreras Antonia Pascual Marta Gonzalez-Vicent Laura Alonso Isabel Badell José María Fernández Navarro Alexandra Regueiro Mercedes Plaza Jose María Pérez Hurtado Ana Benito Cristina Beléndez José Miguel Couselo José Luis Fuster Mariana Díaz-Almirón David Bueno Yasmina Mozo Julia Marsal Alicia Gómez López Luisa Sisinni Cristina Díaz de Heredia Miguel Ángel Díaz 《American journal of hematology》2020,95(1):28-37
A total of 192 pediatric patients, median age 8.6 years, with high-risk hematological malignancies, underwent haploidentical stem cell transplantation (haplo-HSCT) using post-transplantation cyclophosphamide (PT-Cy), or ex vivo T cell-depleted (TCD) graft platforms, from January 1999 to December 2016 in 10 centers in Spain. Some 41 patients received an unmanipulated graft followed by PT-Cy for graft-vs-host disease (GvHD) prophylaxis. A total of 151 patients were transplanted with CD3-depleted peripheral blood stem cells (PBSCs) by either CD34+ selection, CD3+CD19+ depletion, TCRαβ+CD19+ depletion or CD45RA+ depletion, added to CD34+ selection for GvHD prophylaxis. The PBSCs were the only source in patients following ex vivo TCD haplo-HSCT; bone marrow was the source in 9 of 41 patients following PT-CY haplo-HSCT. Engraftment was achieved in 91.3% of cases. A donor younger than 30 years, and the development of chronic GvHD were positive factors influencing survival, whereas positive minimal residual disease (MRD) before transplant and lymphoid disease were negative factors. The probability of relapse increased with lymphoid malignancies, a donor killer-cell immunoglobulin-like receptor (KIR) haplotype A and positive MRD pretransplant. No difference was found in overall survival, disease-free survival or relapse incidence between the two platforms. Relapse is still of concern in both platforms, and it should be the focus of future efforts. In conclusion, both platforms for haplo-HSCT were effective and could be utilized depending on the comfort level of the center. 相似文献
104.
Luis Aldámiz-Echevarría María A. Bueno María L. Couce Sergio Lage Jaime Dalmau Isidro Vitoria Fernando Andrade Javier Blasco Carlos Alcalde David Gil María C. García Domingo González-Lamuño Mónica Ruiz Luis Peña-Quintana María A. Ruiz David González Felix Sánchez-Valverde 《Clinical nutrition (Edinburgh, Scotland)》2014
105.
106.
Caroline Berwanger Cord Rafael Vidal Cortez Velasco Laíla Fernanda Ribeiro Melo Lima Daniel Guimarães Pedro Rocha Carlos Eduardo da Silveira Bueno Sérgio Luiz Pinheiro 《Journal of endodontics》2014
Introduction
The aim of this study was to evaluate the effectiveness of peracetic acid (PAA) in cleaning root canals contaminated with Enterococcus faecalis.Methods
Sixty first and second mandibular molars were used. Their mesiobuccal canals were prepared with the Reciproc System (VDW, Munich, Germany). The canals were irrigated with 10 mL saline during instrumentation. The teeth were randomly divided into 3 groups (n = 20), according to the irrigation solution to be used after instrumentation: group PAA (5 mL 1% PAA), group EDTA/sodium hypochlorite (NaOCl) (5 mL 17% EDTA followed by 5 mL 2.5% sodium hypochlorite), and group S (5 mL saline). Microbiological samples were collected before instrumentation and after final irrigation. Bacterial quantification was performed by counting the number of colony-forming units (CFUs/mL). The results were analyzed by the nonparametric Wilcoxon and Kruskal-Wallis tests.Results
The 3 groups showed a significant reduction (P < .05) in CFUs/mL after final irrigation. PAA and NaOCl associated with EDTA produced a significantly higher reduction in CFUs/mL (P < .05) compared with saline. There was no statistically significant difference between PAA and EDTA + 2.5% NaOCl (P > .05).Conclusions
According to the results of the present study, the effectiveness of 1% PAA was similar to that of 17% EDTA + 2.5% NaOCl in cleaning curved root canals contaminated with E. faecalis. 相似文献107.
Alanna Junaid Laila Gonzales Freire Carlos Eduardo da Silveira Bueno Isabel Mello Rodrigo Sanches Cunha 《Journal of endodontics》2014
Introduction
More information regarding the ability of single files to maintain the original canal position is required before adopting a single-file approach to cleaning and shaping. This study compares apical transportation in curved root canals when instrumenting with a single WaveOne (WO) file (Dentsply Tulsa Dental Specialties, Tulsa, OK) in a reciprocating motion with that incurred when using a sequence of Twisted Files (TFs; SybronEndo, Orange, CA) in a continuous rotating motion.Methods
Forty mesial canals of mandibular molars were evenly allocated into 2 balanced groups (n = 20) with a 17-mm average canal length and 20° average curvature. Canals were accessed in a conventional manner and instrumentation was completed with a single WO file or a series of TFs. The canals were instrumented according to the manufacturers' protocol. Apical transportation was assessed on a comparison of the pre- and postinstrumentation micro–computed tomographic scans at 1-, 2-, 3-, 4-, and 5-mm sections. One-way analysis of variance was performed to assess if a significant difference between systems exists.Results
No significant difference (P > .05) was found between the WO and TF groups. Transportation in the mesial direction was of greater magnitude than distal transportation for both files systems. The mean transportation in the mesial direction was 100.1 ± 8.8 μm (WO group) and 101.0 ± 10.9 μm (TF group) (P = .5), whereas distal transportation was found to be 80.9 ± 14.6 μm (WO group) and 60.3 ± 11.0 μm (TF group) (P = .3).Conclusions
The results suggest that no difference exists between the WO file system and the conventional multifile TF system when considering apical transportation in curved canals. 相似文献108.
109.
LL Patton 《Oral diseases》2014,20(3):223-225
Over the last 30 years, there have been significant advances in our scientific knowledge of HIV disease, including prevention, detection, medical management, and attempts at cure. Investigations and observations of the oral cavity in individuals with HIV disease have contributed substantially to scientific discovery and innovation. Challenges remain for managing existing and emerging oral diseases associated with HIV and understanding the contribution of latent oral mucosal reservoirs to HIV eradication. 相似文献
110.
Aaron R Dezube Daniel P Dolan Emanuele Mazzola Suden Kucukak Luis E De Leon Raphael Bueno M Blair Marshall Michael T Jaklitsch Matthew M Rochefort 《Interactive Cardiovascular and Thoracic Surgery》2022,34(2):212
Open in a separate windowOBJECTIVESProlonged air leak (PAL; >5 days) following lung resection is associated with postoperative morbidity. We investigated factors associated with PAL and PAL requiring intervention.METHODSRetrospective review of all patients undergoing lobectomy, segmentectomy or wedge resection from 2016 to 2019 at our institution. Bronchoplastic reconstructions and lung-volume reduction surgeries were excluded. Incidence and risk factors for PAL and PAL requiring intervention were evaluated.RESULTSIn total, 2384 patients were included. PAL incidence was 5.4% (129/2384); 22.5% (29/129) required intervention. PAL patients were more commonly male (56.6% vs 39.7%), older (mean age 69 vs 65 years) and underwent lobectomy or thoracotomy (all P < 0.001). Patients with PAL had longer length of stay (9 vs 3 days), more discharge needs and increased odds of complication (all P < 0.050).Twenty-nine patients required intervention (9 chest tubes; 4 percutaneous drains; 16 operations). In 50% of operative interventions, an air leak source was identified; however, the median time from intervention to resolution was 13 days. Patients requiring intervention had increased steroid use, lower diffusion capacity for carbon monoxide and twice the length of stay versus PAL patients (all P < 0.050).On univariable analysis, forced expiratory volume in 1 s (FEV1) <40%, diffusion capacity for carbon monoxide <50%, steroid use and albumin <3 had increased odds of intervention (P < 0.050).CONCLUSIONSAge, gender and operative technique were related to PAL development. Patients with worse forced expiratory volume in 1 s or diffusion capacity for carbon monoxide, steroid use or poor nutrition were less likely to heal on their own, indicating a population that could benefit from earlier intervention. 相似文献