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402. Desórdenes Congénitos de la Glicosilación (CDG). Primera investigación Argentina de patologías genéticas causadas por defectos en la biosíntesis de las glicoproteínas: estudios clínicos, bioquímicos y moleculares para la identificación y caracterización de las distintas variantes

Author

Asteggiano, Carla Gabriela, Dodelson de Kremer, Raquel, Oller de Ramirez, Ana María, Azar, Nydia Beatriz, Delgado, María Andrea, Bistué Millón, Beatriz, Guelbert, Norberto, Ghio, Addy Vanina, Asteggiano, Carla Gabriela, Dodelson de Kremer, Raquel, Oller de Ramirez, Ana María, Azar, Nydia Beatriz, Delgado, María Andrea, Bistué Millón, Beatriz, Guelbert, Norberto, and Ghio, Addy Vanina

Abstract

La caracterización de nuevas patologías causadas por defectos en la glicosilación de proteínas se ha incrementado exponencialmente en los últimos cinco años. Los Desórdenes Congénitos de la Glicosilación ó Congenital Disorders of Glycosylation, sigla en inglés, CDG, comprenden defectos en la biosíntesis de las glicoproteínas, ya sea en la vía de la N-glicosilación, como así también de la O-glicosilación proteica. La presentación fenotípica es multisistémica, existen más de 500 genes que codifican para proteínas implicadas en procesos de glicosilación, poniendo de manifiesto la importancia crucial de la glicobiología en los procesos celulares. La mayoría de los CDG conocidos hasta el momento son defectos de N-glicosilación (clasificadas CDG-Ia hasta CDG-Im y CDG-IIa hasta CDG-IIf), aunque están siendo descritas alteraciones de O-glicosilación, como causa primaria de diferentes distrofias musculares, condrodisplasias, mucolipidosis I y II; Síndrome de Exostosis Múltiple Hereditario (EMH), trastornos de la migración neuronal e incluso existen defectos combinados de N- y O-glicosilación. Presentan una mortalidad infantil elevada, de aproximadamente un 25% por infecciones graves o fallos orgánicos. Las principales manifestaciones clínicas son: retraso psicomotor, convulsiones, hipotonía axial, estrabismo e hipoplasia cerebelosa, entre las características más frecuentes, acompañadas en algunos casos por dismorfias, hepatopatía, coagulopatía, enteropatía, entre otras manifestaciones, sin existir un patrón único de expresión clínica y pudiendo observarse manifestaciones inusuales de la enfermedad. Existe en nuestro medio un sub-diagnóstico de estas patologías, atribuible al desconocimiento de la gran variabilidad fenotípica y a la falta de metodologías para su diagnóstico. El estudio de alteraciones de la glicosilación proteica permitirá la identificación de diferentes clases de CDG como responsables de síndromes clínicos no explicados e incluso el hallazgo de nuevas varian, Fil: Asteggiano, Carla Gabriela. Universidad Católica de Córdoba. Facultad de Ciencias Químicas; Argentina

Published
2010

403. MAN1B1 Deficiency: An Unexpected CDG-II

Author

Rymen, Daisy, primary, Peanne, Romain, additional, Millón, María B., additional, Race, Valérie, additional, Sturiale, Luisa, additional, Garozzo, Domenico, additional, Mills, Philippa, additional, Clayton, Peter, additional, Asteggiano, Carla G., additional, Quelhas, Dulce, additional, Cansu, Ali, additional, Martins, Esmeralda, additional, Nassogne, Marie-Cécile, additional, Gonçalves-Rocha, Miguel, additional, Topaloglu, Haluk, additional, Jaeken, Jaak, additional, Foulquier, François, additional, and Matthijs, Gert, additional

Published
2013
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404. Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas

Author

Sarrión, P., primary, Sangorrin, A., additional, Urreizti, R., additional, Delgado, A., additional, Artuch, R., additional, Martorell, L., additional, Armstrong, J., additional, Anton, J., additional, Torner, F., additional, Vilaseca, M. A., additional, Nevado, J., additional, Lapunzina, P., additional, Asteggiano, C. G., additional, Balcells, S., additional, and Grinberg, D., additional

Published
2013
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405. Stanowisko ESC dotyczące toksycznego wpływu leczenia onkologicznego na układ sercowo- -naczyniowy w 2016 roku, opracowane pod auspicjami Komisji ESC do spraw Wytycznych Postępowania.

Author

Zamorano, Jose Luis, Lancellotti, Patrizio, Muñoz, Daniel Rodriguez, Aboyans, Victor, Asteggiano, Riccardo, Galderisi, Maurizio, Habib, Gilbert, Lenihan, Daniel J., Lip, Gregory Y. H., Lyon, Alexander R., Fernandez, Teresa Lopez, Mohty, Dania, Piepoli, Massimo F., Tamargo, Juan, Torbicki, Adam, and Suter, Thomas M.

Published
2016
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406. Chronic triventricular hydrocephalus: morphological and functional study before and after ventriculoperitoneal shunting

Author

L, Bergamasco, G, Asteggiano, P, Ciaramitaro, L, Priano, S, Vighetti, S, Zeme, C A, Pagni, and A, Riva

Subjects
Adult, Chronic Disease, Cerebral Aqueduct, Humans, Electroencephalography, Female, Constriction, Pathologic, Tomography, X-Ray Computed, Magnetic Resonance Imaging, Ventriculoperitoneal Shunt, Cerebral Ventricles, Hydrocephalus
Abstract

We have neuroradiologically and neuropsycho-physiologically studied a case of chronic hydrocephalus due to congenital acqueductal stenosis, before and after ventriculoperitoneal shunting. The aims of the study were: 1) to point out the correlation between neuroimaging (Computerized Tomography/Magnetic Resonance Imaging) and mapping of Computerized Spectral Analysis EEG (CSA-EEG); 2) to monitor evoked bioelectrical activity by neurophysiological evaluation of acoustic and visual N1 and P3. Both bioelectrical activity and neuroimaging evaluation showed a considerable recovery of the neurobiological substratum after neurosurgical shunting, while neuropsychological investigation showed a slight improvement in all cognitive tasks.

Published
1997

411. Low-rate repetitive TMS allays central pain

Author

M. Dotta, S. Vighetti, S. Canavero, Vincenzo Bonicalzi, and G. Asteggiano

Subjects
Adult, Male, Central pain, Pain, Electric Stimulation Therapy, Pilot Projects, Magnetics, Predictive Value of Tests, Humans, Hypnotics and Sedatives, Pain Management, Medicine, Propofol, Aged, business.industry, Motor Cortex, Motor cortex stimulation, General Medicine, Middle Aged, Neurology, Anesthesia, Female, Neurology (clinical), business, medicine.drug
Abstract

Only about 50% of central pain patients respond to motor cortex stimulation in the long run. There is a need for prognostic factors. Here we show that propofol test and TMS both predict short-term effect in nine patients with central pain. This may help reduce the number of failures.

Published
2003
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417. A multidisciplinary management outpatient program for chronic congestive heart failure improves clinical outcome and reduces resource utilization

Author

G. Titta, R. Asteggiano, G. Gaschino, R. Trinchero, and Alessandra Chinaglia

Subjects
medicine.medical_specialty, Chronic congestive heart failure, Multidisciplinary approach, business.industry, Heart failure, Medicine, Cardiology and Cardiovascular Medicine, business, Intensive care medicine, medicine.disease, Outcome (game theory), Resource utilization
Published
2000
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418. The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America

Author

Urreizti, Roser, primary, Asteggiano, Carla, additional, Bermudez, Marta, additional, Córdoba, Alfonso, additional, Szlago, Marina, additional, Grosso, Carola, additional, de Kremer, Raquel Dodelson, additional, Vilarinho, Laura, additional, D’Almeida, Vania, additional, Martínez-Pardo, Mercedes, additional, Peña-Quintana, Luís, additional, Dalmau, Jaime, additional, Bernal, Jaime, additional, Briceño, Ignacio, additional, Couce, María Luz, additional, Rodés, Marga, additional, Vilaseca, Maria Antonia, additional, Balcells, Susana, additional, and Grinberg, Daniel, additional

Published
2007
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419. Exploring Stage I non-small-cell lung cancer: development of a prognostic model predicting 5-year survival after surgical resection.

Author

Guerrera, Francesco, Errico, Luca, Evangelista, Andrea, Filosso, Pier Luigi, Ruffini, Enrico, Lisi, Elena, Bora, Giulia, Asteggiano, Elena, Olivetti, Stefania, Lausi, Paolo, Ardissone, Francesco, and Oliaro, Alberto

Subjects
CANCER treatment, NON-small-cell lung carcinoma, LUNG surgery complications, SURGICAL excision, SURVIVAL analysis (Biometry), MEDICAL statistics, PROGNOSIS
Abstract

OBJECTIVES: Despite impressive results in diagnosis and treatment of non-small-cell lung cancer (NSCLC), more than 30% of patients with Stage I NSCLC die within 5 years after surgical treatment. Identification of prognostic factors to select patients with a poor prognosis and development of tailored treatment strategies are then advisable. The aim of our study was to design a model able to define prognosis in patients with Stage I NSCLC, submitted to surgery with curative intent. METHODS: A retrospective analysis of two surgical registries was performed. Predictors of survival were investigated using the Cox model with shared frailty (accounting for the within-centre correlation). Candidate predictors were: age, gender, smoking habit, morbidity, previous malignancy, Eastern Cooperative Oncology Group performance status, clinical N stage, maximum standardized uptake value (SUVmax), forced expiratory volume in 1 s, carbon monoxide lung diffusion capacity (DLCO), extent of surgical resection, systematic lymphadenectomy, vascular invasion, pathological T stage, histology and histological grading. The final model included predictors with P < 0.20, after a backward selection. Missing data in evaluated predictors were multiple-imputed and combined estimates were obtained from 10 imputed data sets. RESULTS: Analysis was performed on 848 consecutive patients. The median follow-up was 48 months. Two hundred and nine patients died (25%), with a 5-year overall survival (OS) rate of 74%. The final Cox model demonstrated that mortality was significantly associated with age, male sex, presence of cardiac comorbidities, DLCO (%), SUVmax, systematic nodal dissection, presence of microscopic vascular invasion, pTNM stage and histological grading. The final model showed a fair discrimination ability (C-statistic = 0.69): the calibration of the model indicated a good agreement between observed and predicted survival. CONCLUSIONS: We designed an effective prognostic model based on clinical, pathological and surgical covariates. Our preliminary results need to be refined and validated in a larger patient population, in order to provide an easy-to-use prognostic tool for Stage I NSCLC patients. [ABSTRACT FROM AUTHOR]

Published
2015
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420. Environmental factors and agronomic practices associated with Savi's pine vole abundance in Italian apple orchards.

Author

Bertolino, Sandro, Asteggiano, Laura, Saladini, Matteo, Giordani, Luca, Vittone, Graziano, and Alma, Alberto

Subjects
*ENVIRONMENTAL engineering, *AGRICULTURAL economics, *ORCHARDS, *PLANT populations, *IRRIGATION
Abstract

The development of an integrated rodent pest management strategy requires the adoption of protocols that should be based on a good knowledge of species-habitat relationships. Vole damage to orchards has increased in Italy in recent decades, as new cultivation practices have been introduced, despite the use of rodenticides. To improve our understanding of factors influencing Savi's pine vole abundance in Italian apple orchards, we monitored the relationship between environmental and agronomic variables and population densities. Vole population sizes were influenced by the abundance of voles in the neighbouring fields and the presence of kiwifruit orchards, usually not treated with rodenticides, bordering on apple orchards. The type of irrigation system had the strongest influence on vole abundance and flood-irrigated fields had fewer voles than drip-irrigated fields. Apple-tree age and tilling practices also had an influence on vole abundance. Our research provides evidence that vole populations are influenced mostly by agronomic practices and type and extension of fruit orchards. An integrated management strategy in the apple orchard district should include coordination in chemical treatments between farmers and the experimentation of flood irrigation and regular soil tillage management as a possible cost-effective way to reduce vole populations. [ABSTRACT FROM AUTHOR]

Published
2015
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425. Insulin Metabolism is Altered in Migraineurs: A New Pathogenic Mechanism for Migraine?

Author

Cinzia, Cavestro, Annalisa, Rosatello, GianMatteo, Micca, Marisa, Ravotto, Maria Pia, Marino, Giovanni, Asteggiano, and Ettore, Beghi

Subjects
Adult, Aged, 80 and over, Blood Glucose, Male, Time Factors, Adolescent, Migraine Disorders, Headache, Glucose Tolerance Test, Middle Aged, Neurology, Multivariate Analysis, Humans, Insulin, Female, Neurology (clinical), Aged, Retrospective Studies
Abstract

Migraine is a complex biochemical dysfunction attributed to a disorder of the trigeminal and hypothalamic pathways. Impairment of glucose metabolism has been reported in migraine, but data are scanty and inconsistent.The main aim was to verify whether migraineurs have abnormalities of the glucose and insulin metabolism. We also studied correlations between blood glucose and insulin and between insulin levels and migraine severity.Patients with migraine or headache other than migraine, and healthy volunteers were included. All had general blood tests and a standard oral glucose tolerance test after a 12-hour fast, and glucose and insulin were measured.Over a 6-month period, we recruited 84 migraineurs (73 women, 11 men), 25 patients with nonmigraine headache (20 women, 5 men), and 26 healthy controls (24 women, 2 men). Multivariate analysis confirmed a significant difference between groups for glucose levels (P.0001), but no significant time interaction. The differences were mostly between migraine and healthy controls (P.0001) and to a lesser extent between other headaches and healthy controls (P.05). A significant difference between groups was also found for insulin (P.0001), with a significant time interaction. The difference was confirmed for migraine compared to other headaches (P.0001) and healthy controls (P.0001).Blood glucose levels may be high in headache patients, but do not seem to be specific to migraineurs. Insulin levels were higher in migraineurs, and seemed specific to this group. These findings are in keeping with recent reports on the effects of insulin on brain functions and lend support to the possibility that insulin is involved in the pathogenesis of migraine.

Published
2007
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427. 684 A multidisciplinary heart failure care program based on a nurse-monitored outpatient clinic reduces readmissions, improves clinical status and qullity of life after 6 months

Author

G. Titta, D. Blanc, D. Polito, R. Asteggiano, R. Trinchero, G. Gaschino, A. Chinaglia, and P. Lorusso

Subjects
Quality of life (healthcare), Multidisciplinary approach, business.industry, Heart failure, medicine, Outpatient clinic, Medical emergency, Cardiology and Cardiovascular Medicine, medicine.disease, Care program, business
Published
2006
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437. Contents Vol. 78, 2002

Author

Tipu Z. Aziz, Alain Bonafe, V. Bonicalzi, Laura Cif, Steven S. Gill, Seth Love, Simone Hemm, Joachim K. Krauss, Hassan El Fertit, Philippe Frerebeau, D Nandi, Karen O’Sullivan, John F. Stein, Peter Heywood, Jacques Kienlen, Philippe Coubes, Nathalie Vayssiere, Sergio Canavero, M. Dotta, S. Vighetti, Jerrold L. Vitek, Nikunj K. Patel, Marwan Hariz, G. Asteggiano, and D. Cocito

Subjects
medicine.medical_specialty, Philosophy, medicine, Library science, Surgery, Medical physics, Neurology (clinical)
Published
2002
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438. Subject Index Vol. 78, 2002

Author

John F. Stein, S. Vighetti, Karen O’Sullivan, Peter Heywood, G. Asteggiano, Nathalie Vayssiere, Joachim K. Krauss, V. Bonicalzi, Tipu Z. Aziz, Alain Bonafe, Steven S. Gill, Seth Love, Hassan El Fertit, D Nandi, Jacques Kienlen, Philippe Coubes, M. Dotta, D. Cocito, Marwan Hariz, Simone Hemm, Laura Cif, Philippe Frerebeau, Sergio Canavero, Jerrold L. Vitek, and Nikunj K. Patel

Subjects
medicine.medical_specialty, Index (economics), business.industry, Medicine, Surgery, Subject (documents), Medical physics, Neurology (clinical), business
Published
2002
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442. BIOACTIVE TRITERPENES OF Protium heptaphyllum GUM RESIN EXTRACT DISPLAYED CHOLESTEROL-LOWERING POTENTIAL.

Author

MANNINO, Giuseppe, IOVINO, Piera, LAURIA, Antonino, GENOVA, Tullio, ASTEGGIANO, Alberto, NOTARBARTOLO, Monica, PORCU, Alessandra, SERIO, Graziella, CHINIGÒ, Giorgia, OCCHIPINTI, Andrea, CAPUZZO, Andrea, MEDANA, Claudio, MUNARON, Luca, and GENTILE, Carla

Subjects
GUMS & resins, MEDICAL sciences, ERYTHROCYTES, TRITERPENES, MITOCHONDRIAL membranes, BLOOD-brain barrier, REACTIVE nitrogen species, TIGHT junctions
Abstract

Opuntia ficus indica (Opuntia) fruit has been shown to contain several bioavailable phytochemicals with effective anti-oxidative and antiinflammatory properties and, among these, the betalain pigment indicaxanthin. In the light of the strong interconnections between oxidative stress, inflammation and atherosclerosis, this work has evaluated the effects of a methanolic extract of Opuntia fruit (OFE), at nutritionally relevant concentrations, in an in vitro model of oxLDL-induced ED. [Extracted from the article]

Published
2021

446. 660 Psychophysiology of learning disabilities in epilepsy

Author

S. Vighetti, Palma Ciaramitaro, P. Perozzo, G Asteggiano, and L. Bergamasco

Subjects
Epilepsy, Neuropsychology and Physiological Psychology, Psychotherapist, Psychophysiology, Physiology (medical), General Neuroscience, Learning disability, medicine, medicine.symptom, medicine.disease, Psychology, Developmental psychology
Published
1998
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