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51.
Leg length,sitting height,and body proportions references for achondroplasia: New tools for monitoring growth 下载免费PDF全文
Mariana del Pino Rosario Ramos Mejía Virginia Fano 《American journal of medical genetics. Part A》2018,176(4):896-906
52.
Alonso I Fusté V del Pino M Castillo P Torné A Fusté P Rios J Pahisa J Balasch J Ordi J 《Gynecologic oncology》2011,122(3):509-514
Background
Two independent pathways in the development of vulvar squamous cell carcinoma (VSCC) have been described, one related to and the other independent of high-risk human papillomavirus (HR-HPV). The aim of our study was to evaluate whether the HPV status has a prognostic significance or can predict response to radiotherapy.Methods
All VSCC diagnosed from 1995 to 2009 were retrospectively evaluated (n = 98). HPV infection was detected by amplification of HPV DNA by PCR using SPF-10 primers and typed by the INNO-LIPA HPV research assay. p16INK4a expression was determined by immunohistochemistry. Disease-free and overall survival (DFS and OS) were estimated by Kaplan-Meier analysis with the log-rank test and a multivariate Cox proportional hazard's model.Results
HR-HPV DNA was detected in 19.4% of patients. HPV16 was the most prevalent genotype (73.7% of cases). p16INK4a stained 100% HPV-positive and 1.3% HPV-negative tumors (p < .001). No differences were found between HPV-positive and -negative tumors in terms of either DFS (39.8% vs. 49.8% at 5 years; p = .831), or OS (67.2% vs. 71.4% at 5 years; p = .791). No differences in survival were observed between HPV-positive and -negative patients requiring radiotherapy (hazard ratio [HR] 1.04, 95% confidence interval [CI] .45 to 2.41). FIGO stages III-IV (p = .002), lymph node metastasis (p = .030), size ≥ 20 mm (p = .023), invasion depth (p = .020) and ulceration (p = .032) were associated with increased mortality but in multivariated only lymph node metastasis retained the association (HR 13.28, 95% CI 1.19 to 148.61).Conclusions
HPV-positive and -negative VSCCs have a similar prognosis. Radiotherapy does not increase survival in HPV-positive women. 相似文献53.
The Chromosomal Instability Pathway in Colon Cancer 总被引:1,自引:0,他引:1
Maria S. Pino 《Gastroenterology》2010,138(6):2059-7711
54.
Eussen BH van de Laar I Douben H van Kempen L Hochstenbach R De Man SA Van Opstal D de Klein A Poddighe PJ 《European journal of medical genetics》2007,50(2):112-119
We describe a unique family with two children having a delay in psychomotor development. In both children we identified an interstitial duplication dup(2)(q34q33) using multiple, complementary molecular cytogenetic techniques. Comparative genomic hybridisation (CGH) and array-CGH were used to determine the size and the location of the duplicated region, the orientation of the duplicated region was identified with fluorescence in situ hybridisation (FISH). Both parents demonstrated a normal karyotype and normal CGH and array-CGH-profiles. However, FISH on peripheral blood cells from the mother showed the inv dup(2) in 9% of metaphases and 19% of interphase nuclei. To our knowledge this is the first report of a mosaic carrier of duplication in the long arm of chromosome 2. The finding of chromosomal mosaicism of at least 19% in the mother increases the recurrence risk. The exact characterisation of the inv dup(2) with FISH probes enabled us to offer a reliable prenatal FISH test. Comparison of the clinical features of the two children with those of previously described cases supports the hypothesis that the characteristic facial phenotype is linked to the distal part of the 2q33-q37 region. This report illustrates that in case of two sibs with an identical structural chromosomal abnormality the possibility of parental chromosomal mosaicism must be thoroughly investigated. 相似文献
55.
O. Díaz Rizo S. Olivares Reumont J. Viguri Fuente O. Díaz Arado N. López Pino K. D’Alessandro Rodríguez J. O. Arado López A. Gelen Rudnikas G. Arencibia Carballo 《Bulletin of environmental contamination and toxicology》2010,85(3):330-333
Levels of copper, zinc and lead were determined in sediments and edible muscle of marine snail Strombus gigas collected from Guacanayabo Gulf, Cuba. The concentration range of each metal in marine snail muscle on mg kg−1 wet weight varied as follows: Cu = 6.4–32.6, Zn = 20.4–31.1 and Pb = 0.2–2.3; and in corresponding sediments (on mg kg−1 dry weight) as: Cu = 157–186, Zn = 56–94 and Pb = 20–37. The average biota-sediment accumulation factors (BSAFs) obtained for studied metals are less than unity in all cases, indicating that only a little fraction of metal content in the sediments is bioavailable, independently of their possible enrichments in the sediments. The concentrations of copper and lead in some of the marine snails are above typical public health recommended limits. 相似文献
56.
Soluble antigens from group B streptococci induce cytokine production in human blood cultures. 下载免费PDF全文
C von Hunolstein A Totolian G Alfarone G Mancuso V Cusumano G Teti G Orefici 《Infection and immunity》1997,65(10):4017-4021
Group B streptococcal antigens stimulated tumor necrosis factor alpha (TNF-alpha), interleukin-1 (IL-1), and IL-6 production in human blood cultures in a concentration- and time-dependent fashion. The minimal concentrations of type-specific polysaccharides, lipoteichoic acid, and group-specific polysaccharide required to produce these effects were, respectively, 0.01, 1, and 10 microg/ml. Cell separation experiments indicated that monocytes were the cell type mainly responsible for cytokine production. Time course studies indicated that TNF-alpha was released before the other cytokines. TNF-alpha, however, did not appear to directly induce IL-1beta, as shown by blockade experiments with anti-TNF-alpha antibodies. IL-6 levels were moderately but significantly decreased by anti-TNF-alpha. These data indicate that several products from group B streptococci are able to directly stimulate human monocytes to release TNF-alpha, IL-1beta, and IL-6. These findings may be clinically relevant, since proinflammatory cytokines can mediate pathophysiologic changes during sepsis. 相似文献
57.
Cusumano CK Pinkner JS Han Z Greene SE Ford BA Crowley JR Henderson JP Janetka JW Hultgren SJ 《Science translational medicine》2011,3(109):109ra115
Chronic and recurrent urinary tract infections pose a serious medical problem because there are few effective treatment options. Patients with chronic urinary tract infections are commonly treated with long-term prophylactic antibiotics that promote the development of antibiotic-resistant forms of uropathogenic Escherichia coli (UPEC), further complicating treatment. We developed small-molecular weight compounds termed mannosides that specifically inhibit the FimH type 1 pilus lectin of UPEC, which mediates bacterial colonization, invasion, and formation of recalcitrant intracellular bacterial communities in the bladder epithelium. Here, we optimized these compounds for oral bioavailability and demonstrated their fast-acting efficacy in treating chronic urinary tract infections in a preclinical murine model. These compounds also prevented infection in vivo when given prophylactically and strongly potentiated the activity of the current standard of care therapy, trimethoprim-sulfamethoxazole, against clinically resistant PBC-1 UPEC bacteria. These compounds have therapeutic efficacy after oral administration for the treatment of established urinary tract infections in vivo. Their unique mechanism of action-targeting the pilus tip adhesin FimH-circumvents the conventional requirement for drug penetration of the outer membrane, minimizing the potential for the development of resistance. The small-molecular weight compounds described herein promise to provide substantial benefit to women suffering from chronic and recurrent urinary tract infections. 相似文献
58.
Maria Pino David J. Kelvin Jesus F. Bermejo‐Martin Ana Alonso Vanesa Matías Alberto Tenorio Lucia Rico Jose M. Eiros J. Castrodeza Alfredo Blanco‐Quiros Julio Ardura Raul Ortiz De Lejarazu 《Pediatric allergy and immunology》2009,20(8):791-795
Respiratory syncytial virus (RSV) infection is an important cause of recurrent wheezing in infants. Nevertheless, the link between RSV infection and wheezing has yet to be elucidated at the molecular level. Here, we present a preliminary study on the evolution of the immune response in the respiratory tract at long‐term after RSV infection. Twenty‐seven immune mediators were profiled in nasopharyngeal aspirates (NPAs) obtained from 20 children hospitalized due to a severe infection by RSV at discharge from hospital and again 1 yr later. The same mediators were profiled in parallel in NPAs from 12 healthy controls. In the year following discharge, 85% (17/20) of children of the RSV group suffered at least one episode of wheezing documented by the pediatrician. On the contrary, wheezing episodes were observed only in 25% (3/12) of children in the control group. While most of the mediators profiled returned to normal levels by 1 yr after discharge from hospital, RSV children showed a persistent nasal hyper‐secretion of VEGF, G‐CSF, IL‐10, IL‐6, IFN‐γ, IL‐7 and IL‐13. In previous works VEGF, IL‐10 and IFN‐γ have been put in relation with the pathogenesis of post‐virus induced asthma. G‐CSF, IL‐6, IL‐7 and IL‐13 are increased in respiratory and plasma samples of asthmatic patients. Here, we evidence for the first time a persistent elevation of these mediators as late as 1 yr after severe RSV disease resolution, reinforcing their possible implication in the pathogenesis of wheezing. 相似文献
59.
Papaldo P.; Fabi A.; Ferretti G.; Mottolese M.; Cianciulli A. M.; Di Cocco B.; Pino M. S.; Carlini P.; Di Cosimo S.; Sacchi I.; Sperduti I.; Nardoni C.; Cognetti F. 《Annals of oncology》2006,17(4):630-636
Purpose: To observe whether in pretreated metastatic breastcancer patients with HER2-positive disease vinorelbine plustrastuzumab can produce different overall response rate (ORR),time to progression (TTP), and overall survival (OS) from womenwith HER2-negative tumors treated with vinorelbine alone. Methods: Between June 2000 and January 2004, 68 consecutivewomen were enrolled: 33 patients received vinorelbine (V) alone,while 35 patients were given trastuzumab plus vinorelbine (T+V)according to HER2 expression determined by immunohistochemistry.In tumors scored +2, HER2 gene amplification was determinedby fluorescence in situ hybridization. Results: In patients treated with V (HER2-negative tumors) theORR was 27.3%, while in those given T+V (HER2 positive tumors)the ORR was 51.4%. The median duration of response was 8 monthsfor women treated with V and 10 months for those who receivedT+V. Patients given T+V had a longer TTP (9 months) and OS (27months) than those receiving V alone (6 months and 22 monthsrespectively). Toxicity was mild in both groups. Concerningcardiotoxicity in T+V group, 7 patients (20%) had left ventricularsystolic disfunction. Conclusion: Our data suggest that trastuzumab can change thenatural history of HER2-positive metastatic breast cancer. Infact, when treated with trastuzumab, women with HER2-positivedisease had better prognosis than patients with HER2-negativetumors. Conducting a formal phase III trial comparing vinorelbinealone vs vinorelbine plus trastuzumab in HER2-positive metastaticbreast cancer women could be debatable. Key words: weekly vinorelbine, trastuzumab, HER2, metastatic breast cancer 相似文献