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35 results on '"malformazioni congenite"'

1. Trattamento di una palatoschisi in un cucciolo.

Author

Pottier, Mélissa and Minier, Kévin

Abstract

Copyright of Summa, Animali da Compagnia is the property of Point Veterinaire Italie s.r.l. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Published
2023

2. Anoftalmia in un vitello neonato.

Author

Leblanc, Matthieu and Le Baut, Maxime

Abstract

Copyright of Summa, Animali da Reddito is the property of Point Veterinaire Italie s.r.l. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Published
2019

3. Studio sulla comparsa di malformazioni congenite nella progenie del personale del Poligono Interforze del Salto di Quirra (Sardegna).

Author

SATTA, GIANNINA, URSI, MICHELA, PILI, CLAUDIA, CAMPAGNA, MARCELLO, and COCCO, PIERLUIGI

Abstract

Copyright of La Medicina del Lavoro is the property of Mattioli 1885 SpA and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Published
2018
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5. Multislice CT in congenital bronchopulmonary malformations in children.

Author

Tomà, P., Rizzo, F., Stagnaro, N., Magnano, G., and Granata, C.

Abstract

Copyright of La Radiologia Medica is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Published
2011
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6. Valutazione del rischio di malformazioni congenite nella progenie del personale militare e civile del Poligono Interforze del salto di Quirra: risultati preliminari.

Author

Satta, G., Pilleri, M., Garofalo, E., Masala, E., Pili, C., Tocco, A., Ursi, M., D'Andrea, I., Campagna, M., Carta, W., Ballarà, A. Castellet y., Chiodini, S., Nonne, T., Sartorello, A., Addis, M., and Cocco, P.

Abstract

Introduction. We evaluated the congenital malformation rate in the progeny of the personnel of the Salto di Quirra military base in Sardinia. Methods. During 2011, we gathered questionnaire information on the reproductive history of 389 employees, more then 99% of those eligible for routine health surveillance. Results. the observed congenital malformation rate (20.1 x 10-3, 95% CI 6.3 - 33.8) was lower than that reported by the Italian Registries of Congenital Malformations, and it did not vary by exposure to radiofrequency, elf electromagnetic fields, and solvents, and by jobs associated with alleged exposure to nanoparticles or αradiation. Conclusions. Our findings suggest that the documented or alleged occupational exposures among the PISQ workforce did not increase the congenital malformation rate in the progeny [ABSTRACT FROM AUTHOR]

Published
2012

8. Inquinamento da traffi co e rischio di malformazioni congenite: considerazioni metodologiche sull’uso di differenti modellistiche espositive

Author

Vinceti, Marco, Malagoli, Carlotta, Rodolfi, R., Cherubini, A., Maffeis, G., Greco, S., Fabbi, Sara, Signorelli, C., Storani, Simone, Iacuzio, Laura, Fraulini, A., Teggi, Sergio, Bergomi, Margherita, Astolfi, G., Calzolari, E., and Nicolini, F.

Subjects
benzene, PM10, inquinamento, modellistica di qualità dell’aria, Malformazioni congenite, modellistica espositiva
Published
2013

10. Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci

Author

Sven Cichon, Nadine Kluck, Manuel Mattheisen, Thomas F. Wienker, Sandra Barth, Elisabeth Mangold, Nikolaos Daratsianos, Anna Paul, Jessica Becker, Taofik AlChawa, Simone Pötzsch, Peter A. Mossey, Mary L. Marazita, Margrieta A. Alblas, Terri H. Beaty, Markus M. Nöthen, Rudolf H. Reich, Stefanie Nowak, Entessar Nasser, Bert Braumann, Bettina Blaumeiser, Franz Josef Kramer, Alan F. Scott, Ingo Ruczinski, Kerstin U. Ludwig, Thomas Kreusch, Christoph Lange, Carola Lauster, Jeffrey C. Murray, Per Hoffmann, Ruth Herberz, Régine P.M. Steegers-Theunissen, Alexander Hemprich, Heiko Reutter, Peter Propping, Michael Knapp, Michele Rubini, Stefan Herms, Anne C. Böhmer, Obstetrics & Gynecology, and Epidemiology

Subjects
Adult, Male, Parents, Cleft Lip, Biology, Polymorphism, Single Nucleotide, Genome, Article, Genetica, labiopalatoschisi, malformazioni congenite, GWAS, 03 medical and health sciences, 0302 clinical medicine, Risk Factors, Genetics, Humans, Genetic Predisposition to Disease, Child, 030304 developmental biology, Genetic association, 0303 health sciences, Syndrome, 030206 dentistry, Confidence interval, Cleft Palate, Relative risk, Female, IRF6, Human medicine, Genetic risk factor, Genome-Wide Association Study
Abstract

We have conducted the first meta-analyses for nonsyndromic cleft lip with or without cleft palate (NSCL/P) using data from the two largest genome-wide association studies published to date. We confirmed associations with all previously identified loci and identified six additional susceptibility regions (1p36, 2p21, 3p11.1, 8q21.3, 13q31.1 and 15q22). Analysis of phenotypic variability identified the first specific genetic risk factor for NSCLP (nonsyndromic cleft lip plus palate) (rs8001641; P-NSCLP = 6.51 x 10(-11); homozygote relative risk = 2.41, 95% confidence interval (CI) 1.84-3.16).

Published
2012

12. Esposizione a sottoprodotti della disinfezione delle acque potabili durante la gravidanza e anomalie congenite: risultati di uno studio di caso-controllo condotto nella Regione di Emilia-Romagna

Author

Righi, Elena, Bechtold, PETRA ELISABETH, Mariosa, D, Mastroianni, Katia, Giacobazzi, Pierluigi, Predieri, Guerrino, Calzolari, E, Astolfi, G, Lauriola, P, Tortorici, D, Fantuzzi, Guglielmina, and Aggazzotti, Gabriella

Subjects
cloriti, sottoprodotti della disinfezione delle acque potabili, clorati, malformazioni congenite, trialometani
Published
2010

16. La calcolosi intraepatica primaria. Indicazioni e risultati del trattamento chirurgico resettivo

Author

Clemente, G., De Rose, A.M., Giordano, M., Mele, C., Vellone, M., Ardito, F., Murazio, M., Giuliante, F., Giovannini, I., and Nuzzo, G.

Subjects
Cholangiocarcinoma, Resezione epatica, Biliary stenoses, Congenital biliary dilatations, Liver resection, Colangiocarcinoma, Settore MED/18 - CHIRURGIA GENERALE, Inrahepatic lithiasis, Congenital biliary malformations, Litiasi intraepatica, Vie biliari, Stenosi biliari, Malformazioni congenite
Published
2009

18. A G220V substitution within the N-terminal transcription regulating domain of HOXD13 causes a variant synpolydactyly phenotype

Author

Sebastian Fantini, Przemyslaw Tylzanowski, Nathalie Brison, Vincenzo Zappavigna, Giulia Vaccari, and Philippe Debeer

Subjects
Transcription, Genetic, Molecular Sequence Data, Limb Deformities, Congenital, Mutation, Missense, Mice, Transcription (biology), Cell Line, Tumor, Chlorocebus aethiops, Genetics, medicine, Animals, Humans, Missense mutation, Amino Acid Sequence, Molecular Biology, Gene, Genetics (clinical), Homeodomain Proteins, biology, General Medicine, medicine.disease, Synpolydactyly, Pedigree, Protein Structure, Tertiary, Phenotype, sviluppo arti, malformazioni congenite, sinpolidattilia, geni HOX, sviluppo embrionale, fattori di trascrizione, Amino Acid Substitution, HOXD13, COS Cells, Mutation, embryonic structures, biology.protein, Homeobox, HAND2, Haploinsufficiency, Chickens, Sequence Alignment, Protein Binding, Transcription Factors
Abstract

The 5' members of the HoxD gene cluster (paralogous groups 9-13) are crucial for correct vertebrate limb patterning. Mutations in the HOXD13 gene have been found to cause synpolydactyly (SPD) and other limb malformations in human. We report the identification in a Greek family of a variant form of SPD caused by a novel missense mutation that substitutes glycine for valine in position 220 (G220V) of HOXD13. This mutation represents the first substitution of an amino acid located outside of the HOXD13 homeodomain that causes autopodal limb malformations. We have characterized this mutation at the molecular level and found that the G220V substitution causes a significant impairment of the capacity of HOXD13 to bind DNA and regulate transcription. HOXD13(G220V) was found to be deficient in both activating and repressing transcription through HOXD13-responsive regulatory elements. In accordance with these results, a comparison of the activities of HOXD13 and HOXD13(G220V) in vivo, using retrovirus-mediated misexpression in developing chick limbs, showed that the G220V mutation impairs the capacity of HOXD13 to perturb the development of proximal limb skeletal elements and to ectopically activate the transcription of the Hand2 target gene. We moreover show that the G220V mutation compromises the stability of the HOXD13 protein within cells and causes its partial accumulation in the cytosol in the form of subtle aggregates. Taken together, our results establish that the G220V substitution does not produce a dominant-negative effect or a gain-of-function, but represents a dominant loss-of-function mutation revealing haploinsufficiency of HOXD13 in human.

Published
2008
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24. Malformazioni congenite ed esposizione a sottoprodotti della disinfezione (DBPs) nella acque potabili in Emilia Romagna: protocollo di uno studio nell’ambito del VI programma quadro dell’Unione Europea

Author

Aggazzotti, Gabriella, Righi, Elena, Fantuzzi, Guglielmina, Giacobazzi, Pierluigi, Caporali, L., Calzolari, E., Rivieri, F., Lauriola, P., Bechtold, PETRA ELISABETH, and Tortrici, D.

Subjects
malformazioni congenite, acqua potabile, sottoprodotti della disinfezione, congenital malformations, drinking water, disinfection byproducts
Published
2007

27. La calcolosi intraepatica primaria. Indicazioni e risultati del trattamento chirurgico resettivo.

Author

Clemente, Gennaro, De Rose, Agostino Maria, Giordano, Marco, Mele, Caterina, Vellone, Maria, Ardito, Francesco, Murazio, Marino, Giuliante, Felice, Giovannini, Ivo, Nuzzo, Gennaro, Clemente, Gennaro (ORCID:0000-0002-8329-5582), Vellone, Maria (ORCID:0000-0002-7628-4092), Ardito, Francesco (ORCID:0000-0003-1596-2862), Murazio, Marino (ORCID:0000-0003-4863-0434), Giuliante, Felice (ORCID:0000-0001-9517-8220), Clemente, Gennaro, De Rose, Agostino Maria, Giordano, Marco, Mele, Caterina, Vellone, Maria, Ardito, Francesco, Murazio, Marino, Giuliante, Felice, Giovannini, Ivo, Nuzzo, Gennaro, Clemente, Gennaro (ORCID:0000-0002-8329-5582), Vellone, Maria (ORCID:0000-0002-7628-4092), Ardito, Francesco (ORCID:0000-0003-1596-2862), Murazio, Marino (ORCID:0000-0003-4863-0434), and Giuliante, Felice (ORCID:0000-0001-9517-8220)

Abstract

The aim of this study was to review a series of patients submitted to hepatectomy for primary intrahepatic lithiasis to evaluate early and late results with an assessment of indications, methods and long-term outcomes. From January 1992 to December 2007, 40 patients (25 males and 15 females with a mean age of 51 years) underwent surgery for primary intrahepatic lithiasis in our Hepato-biliary Surgery Unit. Left hepatectomy (20 patients) and left lateral segmentectomy (12 patients) were the most common procedures performed. A cholangiocarcinoma was found in 4 patients (10%) and only two of these underwent liver resection, while an exploratory laparotomy was performed in the remaining two patients for an unresectable tumour, unexpected before surgery. There was no postoperative mortality. The morbidity rate was 22.5% with a prevalence of infectious complications related to bile leakage. Long-term results, assessed in 30 patients with a follow-up longer than 12 months, were good or fair in 28 patients (93.3%). Primary intrahepatic lithiasis is diagnosed increasingly in Western countries as a result of the improvement in imaging techniques. The stones originate inside the liver at the level of dilatations of the bile ducts above congenital strictures of the main hilar ducts. Biliary pain and cholangitis are the most common presenting symptoms, whereas cholangiocarcinoma represents the unfavourable complication of the disease. In the majority of cases, a single liver lobe or segment is involved and liver resection allows definitive treatment of the disease and prevention of cancer.

Published
2009

28. Hoxd13 and Hoxa13 directly control the expression of the EphA7 Ephrin tyrosine kinase receptor in developing limbs

Author

Valentina Salsi and Vincenzo Zappavigna

Subjects
geni HOX, fattori di trascrizione, sviluppo embrionale, sviluppo degli arti, recettori efrine, regolazione trascrizionale, geni bersaglio, espressione genica, cellule mesenchimali, malformazioni congenite, sinpolidattilia, Biochemistry, Receptor tyrosine kinase, Mice, Hox gene, Luciferases, Promoter Regions, Genetic, Conserved Sequence, Genetics, Regulation of gene expression, Reverse Transcriptase Polymerase Chain Reaction, Gene Expression Regulation, Developmental, Receptor, EphA7, Up-Regulation, embryonic structures, Signal transduction, Ephrins, Plasmids, Protein Binding, Signal Transduction, Chromatin Immunoprecipitation, animal structures, Molecular Sequence Data, EPHA7, Biology, Transfection, Evolution, Molecular, Species Specificity, Escherichia coli, Limb development, Animals, Amino Acid Sequence, Molecular Biology, Transcription factor, Body Patterning, Homeodomain Proteins, Binding Sites, Base Sequence, Sequence Homology, Amino Acid, Promoter, Extremities, Cell Biology, DNA, Fibroblasts, Mutation, biology.protein, NIH 3T3 Cells, Transcription Factors
Abstract

Hoxa and Hoxd genes, related to the Drosophila Abd-B gene, display regionally restricted expression patterns and are necessary for the formation of the limb skeletal elements. Hox genes encode transcription factors, which are supposed to control the expression of a series of downstream target genes, whose nature has remained largely elusive. Several genes were identified that are differentially expressed in relation to Hox gene activity; few studies, however, explored their direct regulation by Hox proteins. Ephrin tyrosine kinase receptors and ephrins have been proposed as Hox targets, and recently, evidence was gained for their role in limb development. The expression of the EphA7 gene in developing limbs was shown to correlate with the expression of Hoxa13 and Hoxd13; however, its direct regulation by these genes has never been assessed. We have characterized the EphA7 promoter region and show that it contains multiple binding sites for paralog group 13 Hox proteins. We found that one of these sites is bound in vivo by HOXA13 and HOXD13 and by endogenous Hoxd13 in developing mouse limbs. Moreover, we show that HOXD13 and HOXA13 activate transcription from the EphA7 promoter and that a mutation of the HOXA13/HOXD13 binding site was sufficient to abolish activation. Conversely, the HOXD13(147L) mutation, identified in patients displaying a novel brachydactyly-polydactyly syndrome, does not bind to in vivo, and fails to transactivate the EphA7 promoter. These results establish that EphA7 is a direct downstream target of Hoxd13 and Hoxa13 during limb development, thus providing further insight into the regulatory networks that control limb patterning.

Published
2005

29. Ritardo di crescita e malformazioni congenite

Author

COCCHI, GUIDO, Vitali F., Capelli M., Gualdi S., Giura F., Astolfi G, Rivieri F., Cocchi G., Vitali F., Capelli M., Gualdi S., Giura F., Astolfi G, and Rivieri F.

Subjects
MALFORMAZIONI CONGENITE, IPOSPADIA, RITARDO DI CRESCITA
Published
2005

31. Study of congenital malformations among the progeny of the personnel of an interforce military shooting range in Sardinia, Italy.

Author

Satta G, Ursi M, Pili C, Campagna M, and Cocco P

Subjects
Adult, Humans, Italy epidemiology, Retrospective Studies, Congenital Abnormalities epidemiology, Environmental Exposure, Military Personnel, Occupational Exposure
Abstract

Background: Claims of an excess of congenital malformations in a village nearby the military shooting range of Salto di Quirra (PISQ), Sardinia have attracted media attention., Objective: To verify such reports with a retrospective study of the reproductive history of the PISQ personnel., Methods: In 2011, we interviewed 390 soldiers employed at the PISQ shooting range (86.7% of the total workforce) about their reproductive history, including age at first conception, number of live births and spontaneous abortions, and cases of malformations among their progeny, as well as work history and lifestyle habits. We used a job-exposure matrix to assess occupational exposure to radiofrequency, extremely low frequency electromagnetic fields, solvents and nanoparticles, and whether holding an operative job in the shooting range areas., Results: The rate of congenital malformations among the progeny of the study subjects was close to the expectation (20.2x10^-3 live births, 95% CI 6.3-34.0; 8 cases observed versus 8.6 expected based on the 2005 rate of the Emilia Romagna region), it was lower in the years subsequent to the onset of service at PISQ (11.0x10^-3, 95% CI 0.0-26.1; two cases observed versus 3.9 expected), and it did not vary by residence in the surrounding villages or elsewhere. None of the exposures we assessed was associated with an increase in the rate of congenital malformations., Conclusions: The limited statistical power of our study allows to exclude that a strong excess of congenital malformations occurred among the progeny of the PISQ shooting range personnel.

Published
2018
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