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1,114 results on '"Bellini C"'

207. Imaging findings in pulmonary lymphangiectasia

Author

Bellini, C., FRANCESCO MARIA BOCCARDO, Campisi, C., and Bonioli, E.

Subjects
Pulmonary lymphangiectasia, Child, Imaging findings, Newborn, Cardiology and Cardiovascular Medicine
Published
2006

208. Results from CUORICINO experiment and prospects for CUORE

Author

Pedretti, M., Ardito, R., Arnaboldi, C., Artusa, D. R., Avignone, F. T., Balata, M., Bandac, I., Barucci, M., Beeman, J. W., Brofferio, F. Bellini C., Bucci, C., Capelli, S., Capozzi, F., Carbone, L., Cebrian, S., Clemenza, M., Cosmelli, C., Cremonesi, O., Creswick, R. J., Dafinei, I., de Waard, A., Diemoz, M., Dolinski, Michelle J., Farach, H. A., Ferroni, F., Fiorini, E., Gargiulo, C., Guardincerri, E., Giuliani, A., Gorla, P., Gutierrez, T. D., Haller, E. E., Irastorza, I. G., Longo, E., Maier, G., Maruyama, R., Silvio, Morganti, Nisi, S., Nones, C., Norman, E. B., Nucciotti, A., Olivieri, E., Ottonello, Pasquale, Pallavicini, Marco, Palmieri, V., Pavan, M., Pessina, G., Pirro, S., Previtali, E., Quiter, B., Risegari, L., Rosenfeld, C., Sangiorgio, S., Sisti, M., Smith, A. R., Torres, L., Ventura, G., Xu, N., and Zanotti, L.

Published
2006

210. Diagnostic protocol for lymphoscintigraphy in newborns

Author

Bellini, C, Boccardo, Francesco, Taddei, G, Mazzella, M, Arioni, C, Villa, G, Hennekam, Rc, Serra, G, Campisi, Corradino, Amsterdam Neuroscience, Amsterdam Public Health, and Paediatric Genetics

Abstract

The purpose of this methods paper is to offer pediatricians and nuclear medicine physicians a diagnostic protocol for performing lymphoscintigraphy in newborns that may be useful for enhancing diagnosis and management of newborns with congenital lymphatic abnormalities. Indications for lymphoscintigraphy, choice of tracer, optimal dose, routes of administration, methods of data acquisition, timing, and interpretation of results for newborns are presented and discussed

Published
2005

211. Results from CUORICINO and prospects for CUORE

Author

Cebrian, S., Ardito, R., Arnaboldi, C., Artusa, D. R., Avignone, F. T., Balata, M., Bandac, I., Barucci, M., Beeman, J. W., Brofferio, F. Bellini C., Bucci, C., Capelli, S., Capozzi, F., Carbone, L., Cosmelli, C., Cremonesi, O., Creswick, R. J., de Waard, A., Dolinski, Michelle J., Farach, H. A., Ferroni, F., Fiorini, E., Frossati, G., Gargiulo, C., Giuliani, A., Gorla, P., Guardincerri, E., Gutierrez, T. D., Haller, E. E., Irastorza, I. G., Longo, E., Maier, G., Maruyama, R., Mcdonald, R. J., Silvio, Morganti, Nisi, S., Norman, E. B., Nucciotti, A., Olivieri, E., Ottonello, Pasquale, Pallavicini, Marco, Palmieri, V., Pasca, E., Pavan, M., Pedretti, M., Pessina, G., Pirro, S., Previtali, E., Quiter, B., Risegari, L., Rosenfeld, C., Sangiorgio, S., Sisti, M., Smith, A. R., Toffanin, S., Torres, L., Ventura, G., and Xu, N.

Published
2005

214. Multimodal imaging in the congenital pulmonary lymphangiectasia-congenital chylothorax-hydrops fetalis continuum

Author

Bellini, C., Mazzella, M., Campisi, C., Taddei, G., Mosca, F., paolo toma, Villa, G., Boccardo, F., Sementa, A. R., Hennekam, R. C., Serra, G., and Paediatric Genetics

Subjects
Congenital chylothorax, Non-Immune Hydrops Fetalis, Congenital pulmonary lymphangiectasia, Lymphatic system
Abstract

We report on three infants with congenital chylothorax (CC) and congenital pulmonary lymphangiectasia (CPL). CPL appears to be a characteristic pathological finding in CC. Through the use of lymphoscintigraphy and computed tomography, this study suggests that CC and CPL are strongly correlated entities and that the dysplasia of the lymphatic system results in a pulmonary lymphatic obstruction sequence. The initial microscopic dilatation of the lymph channels may lead to progressive weeping of lymphatics and, consequently, to pleural effusion. Non-Immune Hydrops Fetalis (NIHF) may be the final consequence of impaired systemic venous return and may help to explain pleural-pulmonary involvement in this generalized lymph-vessel malformation syndrome

Published
2004

221. Congentital lymphatic dysplasias in newborns

Author

Bellini, C., Boccardo, Francesco, Taddei, G., Bonioli, Eugenio, Macdo, A., Zilli, A., da Rin, E., Eretta, C., Villa, G., Serra, G., and Campisi, Corradino

Published
2003

223. Genetic analysis of transgenic tobacco plants obtained by liposome-mediated transformation: absence of evidence for the mutagenic effect of inserted sequences in sixty characterized transformants

Author

Bellini, C., Guerche, P., Spielmann, A., Goujaud, J., Lesaint, C., and Caboche, M.

Subjects
Genetic transformation -- Research, Tobacco -- Genetic aspects, Natural immunity -- Genetic aspects, Plant genetics -- Research, Liposomes -- Genetic aspects, Mutagenicity testing -- Research, Biological sciences
Published
1989

224. Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without CCBE1 Mutations.

Author

UCL - (SLuc) Centre de génétique médicale UCL, UCL - SSS/DDUV - Institut de Duve, Alders, M, Mendola, Antonella, Adès, L, Al Gazali, L, Bellini, C, Dallapiccola, B, Edery, P, Frank, U, Hornshuh, F, Huisman, S A, Jagadeesh, S, Kayserili, H, Keng, W T, Lev, D, Prada, C E, Sampson, J R, Schmidtke, J, Shashi, V, van Bever, Y, Van der Aa, N, Verhagen, J M, Verheij, J B, Vikkula, Miikka, Hennekam, R C, UCL - (SLuc) Centre de génétique médicale UCL, UCL - SSS/DDUV - Institut de Duve, Alders, M, Mendola, Antonella, Adès, L, Al Gazali, L, Bellini, C, Dallapiccola, B, Edery, P, Frank, U, Hornshuh, F, Huisman, S A, Jagadeesh, S, Kayserili, H, Keng, W T, Lev, D, Prada, C E, Sampson, J R, Schmidtke, J, Shashi, V, van Bever, Y, Van der Aa, N, Verhagen, J M, Verheij, J B, Vikkula, Miikka, and Hennekam, R C

Abstract

The lymphedema-lymphangiectasia-intellectual disability (Hennekam) syndrome (HS) is characterised by a widespread congenital lymph vessel dysplasia manifesting as congenital lymphedema of the limbs and intestinal lymphangiectasia, accompanied by unusual facial morphology, variable intellectual disabilities and infrequently malformations. The syndrome is heterogeneous as mutations in the gene CCBE1 have been found responsible for the syndrome in only a subset of patients. We investigated whether it would be possible to predict the presence of a CCBE1 mutation based on phenotype by collecting clinical data of patients diagnosed with HS, with or without a CCBE1 mutation. We report here the results of 13 CCBE1 positive patients, 16 CCBE1 negative patients, who were clinically found to have classical HS, and 8 patients in whom the diagnosis was considered possible, but not certain, and in whom no CCBE1 mutation was identified. We found no statistically significant phenotypic differences between the 2 groups with the clinical HS phenotype, although the degree of lymphatic dysplasia tended to be more pronounced in the mutation positive group. We also screened 158 patients with less widespread and less pronounced forms of lymphatic dysplasia for CCBE1 mutations, and no mutation was detected in this group. Our results suggest that (1) CCBE1 mutations are present only in patients with a likely clinical diagnosis of HS, and not in patients with less marked forms of lymphatic dysplasia, and (2) that there are no major phenotypic differences between HS patients with or without CCBE1 mutations.

Published
2013

226. Ten novel mutations in the human neurofibromatosis type 1 (NF1) gene in Italian patients

Author

Origone, P., Luca, A., Bellini, C., Buccino, A., Mingarelli, R., Costabel, S., La Rosa, C., Garrè, C., Coviello, D. A., Ajmar, F., Bruno Dallapiccola, and Bonioli, E.

Subjects
Neurofibromatosis 1, Neurofibromin 1, Base Sequence, Italy, Reverse Transcriptase Polymerase Chain Reaction, Protein Biosynthesis, DNA Mutational Analysis, Mutation, Humans, DNA, Neoplasm, RNA, Neoplasm, Polymorphism, Single-Stranded Conformational
Abstract

The entire NF1 coding region was analyzed for mutations in a panel of 108 unrelated Italian NF1 patients. Using PTT, SSCP, and DNA sequencing, we found 10 mutations which have never been reported before. Clinical diagnosis of NF1 was established according to the NIH consensus criteria in 100 individuals, while 8 were young children with only multiple cafè-au-lait spots. We detected 46 truncated fragments, and 24 of them were fully characterized by SSCP and direct sequencing. Of the 24, 14 were known mutations (R304X, R681X, Q682X, R1306X, R1362X, R1513X, R1748X, Q1794X, R1947X, Y2264X, R2237X, 2674delA, 6789delTTAC, 2027insC). The other 10 mutations represent novel changes that contribute to the germline mutational spectrum of the NF1 gene (K810X, Q2595X, 6772delT, 7190delCT, 7331delA, 1021insTT, 3921insT, 4106insTA, 7149insC, 2033insCG / 2034delA). PTT in a large number of Italian NF1 patients supports the usefulness of this method for characterization of mutations in disorders where the responsible gene is very large and the disease-causing mutations often create a stop codon. In agreement with previous reports, no mutational hotspots within the NF1 gene were detected.

Published
2002

229. [In vitro experimentation of a new model of radial flow bioreactor containing isolated hepatocytes]

Author

Morsiani E, Ac, Puviani, Brogli M, Pazzi P, Tosatti S, Valieri L, Gorini P, Fogli L, Galavotti D, Borra M, Bellini C, Squarzoni P, Ricci D, Roberto Reverberi, and Azzena G

Subjects
Bioreactors, Liver, Swine, Animals, Equipment Design, Liver, Artificial
Abstract

Hepatocyte based artificial liver support systems are under investigation to support acute liver failure patients. The main purpose of such systems is to serve as a bridge to liver transplantation, or to promote spontaneous liver recovery. Limitation in mass-transfer capacity makes hollow-fiber bioreactors unsuited for long-term functioning of hybrid devices. We developed a novel radial-flow bioreactor in which the fluid perfuses the module from the center to the periphery, after having diffused through a space occupied by a three-dimensional structure filled with the hepatocytes. Five grams of freshly isolated porcine hepatocytes were seeded into uncoated, woven-non woven, hydrophilic polyester fabric, overlaid by two polyethersulfone membranes. Liver cells were perfused with 37 degrees C-warm, oxygenated, serum-free tissue culture medium, in which NH4Cl and Lidocaine were added at the final concentration of 1 mM and 60 micrograms/ml, respectively. Ammonium chloride removal, urea synthesis, monoethylglycinexylide (MEGX), pO2, pCO2, and pH were measured throughout the 14 day duration of the study. In a separate set of experiments, a scaled-up version of the radial flow bioreactor containing 150 grams of cells was perfused for 7 h with recirculating human plasma and MEGX production was monitored. During the 2 weeks of the study, an increasing production of urea was paralleled by constant ammonium removal. MEGX concentration after Lidocaine addition increased throughout the 14 days of perfusion with tissue culture medium, as well as after 7 hour perfusion with human plasma. Under transmission and scanning electron microscopy cells appeared attached to the polyester and one to each other, displaying ultrastructural features typical of functioning hepatocytes. Our study showed that liver cells were metabolically active when perfused into the radial-flow bioreactor. This configuration allowed close contact between media, or plasma, and cells at a physiological flow rate, by equalizing the concentration of the perfusing components, including O2, throughout the module. Our results suggest a potential use of this system for temporary extracorporeal liver support in acute hepatic failure patients.

Published
2000

236. The Pasticcino genes of Arabidopsis thaliana are involved in the control of cell division and differentiation

Author

Faure, J. -D, Vittorioso, P., Santoni, V., Fraisier, V., Els Prinsen, Barlier, I., Onckelen, H., Caboche, M., Bellini, C., Laboratoire de Biologie Cellulaire, Institut National de la Recherche Agronomique (INRA), Department of Biology (University of Antwerp), and University of Antwerp (UA)

Subjects
DIFFERENCIATION CELLLULAIRE, FAMILLE DE GENES, [SDV]Life Sciences [q-bio]
Abstract

16 illus.; International audience

Published
1998

238. Higher activity of an aldehyde oxidase in the auxin-overproducing superroot1 mutant of Arabidopsis thaliana

Author

Seo, M., Akaba, S., Oritani, T., Delarue, M., Bellini, C., Caboche, M., Tomokazu Koshiba, Laboratoire de biologie cellulaire et moléculaire, Institut National de la Recherche Agronomique (INRA), and ProdInra, Migration

Subjects
[SDV.GEN.GPL]Life Sciences [q-bio]/Genetics/Plants genetics, [SDV.GEN.GPL] Life Sciences [q-bio]/Genetics/Plants genetics, ComputingMilieux_MISCELLANEOUS
Abstract

International audience

Published
1998

240. La sclerosi tuberosa

Author

Bonioli, Eugenio, DI STEFANO, Antonio, Bellini, C., Costabel, S., Perrone, M., Biancheri, R., and Veneselli, EDVIGE MARIA

Published
1998

246. CONGENITAL CHYLOTHORAX OF THE NEWBORN: DIAGNOSIS AND TREATMENT IN THREE PICTURES.

Author

Bellini, C., Cabano, R., Bellini, T., Boccardo, F., Morcaldi, G., and Ramenghi, L. A.

Subjects
CHYLOTHORAX, CONGENITAL disorders, PLEURAL effusions, CHYLE, NEONATAL diseases, PHYSIOLOGY, DISEASE risk factors
Abstract

There is general agreement regarding the evident need for an international, multicenter trial including long-term follow-up to establish the correct criteria for diagnosing and managing congenital chylothorax. In an attempt to identify these criteria, which could then be used to draft a prospective multicenter trial, we propose three flow-charts showing three algorithms that could be used to: 1) obtain a definitive diagnosis of pleural chylous effusion; 2) specifically focus on chyle leakage evolution and etiology of chylothorax; and 3) focus on the management of congenital chylothorax. The aim of the algorithms we propose is to build the basis on which a strongly needed multicenter trial might be structured. [ABSTRACT FROM AUTHOR]

Published
2016

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