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3. Mandibuloacral Dysplasia Type A in Childhood

Author

Garavelli, L., DʼApice, M. R., Rivieri, F., Bertoli, M., Wischmeijer, A., Gelmini, C., De Nigris, V., Albertini, E., Rosato, S., Virdis, R., Bacchini, E., Dal Zotto, R., Banchini, G., Iughetti, L., Bernasconi, S., Superti-Furga, A., and Novelli, G.

Published
2009
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5. Novelty in hypertension in children and adolescents: Focus on hypertension during the first year of life, use and interpretation of ambulatory blood pressure monitoring, role of physical activity in prevention and treatment, simple carbohydrates and uric acid as risk factors

Author

Strambi, M, Giussani, M, Ambruzzi, M, Brambilla, P, Corrado, C, Giordano, U, Maffeis, C, Maringhin, S, Matteucci, M, Menghetti, E, Salice, P, Schena, F, Strisciuglio, P, Valerio, G, Viazzi, F, Virdis, R, Genovesi, S, GIUSSANI, MARCO CESARE, GENOVESI, SIMONETTA CARLA, Strambi, M, Giussani, M, Ambruzzi, M, Brambilla, P, Corrado, C, Giordano, U, Maffeis, C, Maringhin, S, Matteucci, M, Menghetti, E, Salice, P, Schena, F, Strisciuglio, P, Valerio, G, Viazzi, F, Virdis, R, Genovesi, S, GIUSSANI, MARCO CESARE, and GENOVESI, SIMONETTA CARLA

Abstract

The present article intends to provide an update of the article "Focus on prevention, diagnosis and treatment of hypertension in children and adolescents" published in 2013 (Spagnolo et al., Ital J Pediatr 39:20, 2013) in this journal. This revision is justified by the fact that during the last years there have been several new scientific contributions to the problem of hypertension in pediatric age and during adolescence. Nevertheless, for what regards some aspects of the previous article, the newly acquired information did not require substantial changes to what was already published, both from a cultural and from a clinical point of view. We felt, however, the necessity to rewrite and/or to extend other parts in the light of the most recent scientific publications. More specifically, we updated and extended the chapters on the diagnosis and management of hypertension in newborns and unweaned babies, on the use and interpretation of ambulatory blood pressure monitoring, and on the usefulness of and indications for physical activity. Furthermore, we added an entirely new section on the role that simple carbohydrates (fructose in particular) and uric acid may play in the pathogenesis of hypertension in pediatric age.

Published
2016

9. Genitourinary Anomalies in Mowat-Wilson Syndrome with Deletion/Mutation in the Zinc Finger Homeo Box 1B Gene (ZFHX1B) - Report of Three Italian Cases with Hypospadias and Review

Author

Garavelli, Livia, Cerruti-Mainardi, P., Virdis, R., Pedori, S., Pastore, G., Godi, M., Provera, S., Rauch, Anita, Zweier, Christiane, Zollino, M., Banchini, G., Longo, N., Mowat, D., Neri, G., and Bernasconi, S.

Subjects
Medizinische Fakultät -ohne weitere Spezifikation, ddc:610
Abstract

Hypospadias, when the urethra opens on the ventral side of the penis, is a common malformation seen in about 3 per 1,000 male births. It is a complex disorder associated with genetic and environmental factors and can be part of genetic syndromes. Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype, Hirschsprung disease, microcephaly and mental retardation. It is caused by mutations in the zinc fi nger homeo box 1B gene, ZFHX1B (SIP1). To date, 68 deletion/mutation-positive cases have been reported. Genitourinary anomalies are common in MWS. Here we report that hypospadias is common in males with this syndrome. In 39 patients where this information was available, hypospadias was present in 46% of patients (18/39). In the 3 Italian male cases reported here, hypospadias was always present. MWS should be considered by endocrinologists in patients with hypospadias associated with developmental delays/mental retardation, in particular in the presence of a distinct facial phenotype.

Published
2013

15. Focus on prevention, diagnosis and treatment of hypertension in children and adolescents

Author

Spagnolo, A, Giussani, M, Ambruzzi, A, Bianchetti, M, Maringhini, S, Matteucci, M, Menghetti, E, Salice, P, Simionato, L, Strambi, M, Virdis, R, Genovesi, S, GENOVESI, SIMONETTA CARLA, Spagnolo, A, Giussani, M, Ambruzzi, A, Bianchetti, M, Maringhini, S, Matteucci, M, Menghetti, E, Salice, P, Simionato, L, Strambi, M, Virdis, R, Genovesi, S, and GENOVESI, SIMONETTA CARLA

Abstract

The European Society of Hypertension has recently published its recommendations on prevention, diagnosis and treatment of high blood pressure in children and adolescents. Taking this contribution as a starting point the Study Group of Hypertension of the Italian Society of Pediatrics together with the Italian Society of Hypertension has conducted a reappraisal of the most recent literature on this subject. The present review does not claim to be an exhaustive description of hypertension in the pediatric population but intends to provide Pediatricians with practical and updated indications in order to guide them in this often unappreciated problem.This document pays particular attention to the primary hypertension which represents a growing problem in children and adolescents. Subjects at elevated risk of hypertension are those overweight, with low birth weight and presenting a family history of hypertension. However, also children who do not present these risk factors may have elevated blood pressure levels. In pediatric age diagnosis of hypertension or high normal blood pressure is made with repeated office blood pressure measurements that show values exceeding the reference values. Blood pressure should be monitored at least once a year with adequate methods and instrumentation and the observed values have to be interpreted according to the most updated nomograms that are adjusted for children's gender, age and height. Currently other available methods such as ambulatory blood pressure monitoring and home blood pressure measurement are not yet adequately validated for use as diagnostic instruments. To diagnose primary hypertension it is necessary to exclude secondary forms. The probability of facing a secondary form of hypertension is inversely proportional to the child's age and directly proportional to blood pressure levels. Medical history, clinical data and blood tests may guide the differential diagnosis of primary versus secondary forms. The prevention of hi

Published
2013

17. CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study

Author

Del Giudice, E, Macca, M, Imperati, F, D'Amico, A, Parent, P, Pasquier, L, Layet, V, Lyonnet, S, Stamboul Darmency, V, Thauvin Robinet, C, Franco, B, OFD1 Collaborative Group including Bankier A, Oral Facial Digital Type I., White, S, Collins, F, Gardner, M, Keeling, Sl, Tan, T, Mcgaughran, J, Mckenzie, F, Lhotta, K, Abdulla, F, Destree, A, Devriendt, K, Matthijs, G, Ferrier, R, Mcleod, Dr, Friedman, Jm, Heran, H, Graham, Ge, Klatt, R, Teebi, A, Jensen, P, Gilbert, B, Marlin, S, Trousseau, A, Toutain, A, David, A, Odent, S, Héron, D, Burglen, L, Rio, M, Jouk, Ps, Plessis, G, Lespinasse, J, Giuliano, F, Turc Carel, C, Betz, Rc, Heim, S, Klehr Martinelli, M, Kotzot, D, Minnerop, M, Schell Apacik, C, Gal, A, Orth, U, Gillessen Kaesbach, G, Zoll, B, Mucke, J, Tzschach, A, Godde, E, Carmi, R, Brunetti, N, Scarcella, A, Castelluccio, P, Castellan, C, Gerola, O, Bigoni, S, Zelante, L, Foggia, S, Sabato, A, Bianchini, G, Nuova, As, Virdis, R, Ferrero, Giovanni Battista, Selicorni, A, Gurrieri, F, Cuore, S, Megarbane, A, Chiong, Ma, Cutiongco, Em, Obersztyn, E, Kutkowska Kazmierczak, A, Mota, Cr, de Magalhaes, D, Stevanovic, G, Del Pozo JS, Barcina, Mg, Iwarsson, E, Graber, V, Okhowat, R, Shinzel, A, Brunner, Hg, Krapels, I, Hovers, V, Beemer, Fa, Terhal, P, Rump, P, Elcioglu, N, Toprak, O, Burn, J, Henderson, A, Jones, E, Dean, J, Castle, B, Macdonald, F, Farndon, P, Williams, D, Homfray, T, Lees, M, Loughlin, S, Raymond, Fl, Trump, D, Whittaker, J, Smithson, S, Rankin, J, Turner, C, Bird, L, Chibuk, J, Masser Frye, D, Sell, S, Amy, S, Schafer, I, Bartoshesky, Le, Jenny, K, Benke, P, Curry, C, Swenerton, A, Treisman, T, Dunlap, Jw, Shashi, V, Reich, E, Reimschisel, T, Pfau, R, Pober, B, Robertson, J, Roggenbuck, J, Thiese, H., DEL GIUDICE, Ennio, M., Macca, F., Imperati, A., D’Amico, P., Parent, L., Pasquier, V., Layet, S., Lyonnet, V., Stamboul Darmency, C., Thauvin Robinet, Franco, Brunella, and Oral Facial Digital Type, I. Collaborative G. r. o. u. p.

Subjects
Central nervous system, Neuroimaging, Neuropsychological Tests, Pharmacology, Bioinformatics, Settore MED/03 - GENETICA MEDICA, Ciliopathies, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Central Nervous System Diseases, medicine, Humans, Genetics(clinical), Pharmacology (medical), Orofaciodigital type 1, Neurodevelopmental phenotype, OFD1, Female, Magnetic Resonance Imaging, Mutation, Orofaciodigital Syndromes, Medicine (all), Genetics (clinical), Agenesis of the corpus callosum, 030304 developmental biology, Medicine(all), 0303 health sciences, business.industry, Research, Cilium, Neuropsychology, Cognition, General Medicine, medicine.disease, central nervous system, Porencephaly, 3. Good health, medicine.anatomical_structure, business, 030217 neurology & neurosurgery
Abstract

Background Oral-facial-digital type 1 syndrome (OFD1; OMIM 311200) belongs to the expanding group of disorders ascribed to ciliary dysfunction. With the aim of contributing to the understanding of the role of primary cilia in the central nervous system (CNS), we performed a thorough characterization of CNS involvement observed in this disorder. Methods A cohort of 117 molecularly diagnosed OFD type I patients was screened for the presence of neurological symptoms and/or cognitive/behavioral abnormalities on the basis of the available information supplied by the collaborating clinicians. Seventy-one cases showing CNS involvement were further investigated through neuroimaging studies and neuropsychological testing. Results Seventeen patients were molecularly diagnosed in the course of this study and five of these represent new mutations never reported before. Among patients displaying neurological symptoms and/or cognitive/behavioral abnormalities, we identified brain structural anomalies in 88.7%, cognitive impairment in 68%, and associated neurological disorders and signs in 53% of cases. The most frequently observed brain structural anomalies included agenesis of the corpus callosum and neuronal migration/organisation disorders as well as intracerebral cysts, porencephaly and cerebellar malformations. Conclusions Our results support recent published findings indicating that CNS involvement in this condition is found in more than 60% of cases. Our findings correlate well with the kind of brain developmental anomalies described in other ciliopathies. Interestingly, we also described specific neuropsychological aspects such as reduced ability in processing verbal information, slow thought process, difficulties in attention and concentration, and notably, long-term memory deficits which may indicate a specific role of OFD1 and/or primary cilia in higher brain functions.

Published
2014
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18. [Optic pathway gliomas in patients with neurofibromatosis type 1: clinical-neuroradiological integrated approach]

Author

Zuccoli G, Ferrozzi F, Signorini M, Virdis R, and Troiso A

Subjects
Adult, Male, Neurofibromatosis 1, Adolescent, Optic Nerve Neoplasms, Infant, Glioma, Magnetic Resonance Imaging, Neoplasms, Multiple Primary, Child, Preschool, Humans, Female, Child, Retrospective Studies
Abstract

To evaluate a patient population affected by Neurofibromatosis type 1 (NF1) with special reference to optic pathway gliomas.A total of 419 NF1 patients (222 men, 197 women) were retrospectively evaluated to show incidence, biological behaviour, neuroradiological and clinical presentation of optic pathway gliomas. Central Nervous System MR and ophthalmologic evaluations were reviewed.Thirty-two patients out of 419 (7.6%) showed the presence of optic pathway gliomas. Of these, 28 (87.2%) patients showed tumoral involvement of the optic chiasma. The right intracranial optic nerve was involved in 15 patients (46.8%), the left intracranial optic nerve in 18 (56.2%), the right extracranial optic nerve in 11 (34.3%), the left extracranial optic nerve in 10 (31.2%) and the right and left optic tracts in 6 (18.7%) patients. Geniculate body and optic radiation were not involved by tumour diffusion. Visual acuity testing was positive in 26/32 (81.2%), the fundus oculi in 11/32 (34.3%) patients and the visual field evaluation in 12/32 (37.5%) patients.In this study we showed an high correlation between optic pathway tumours and ophthalmologic abnormalities confirming the usefulness of an integrated clinical-neuroradiological approach in patients affected by NF1. We also described the biological behaviour of these tumours in our NF1 patient population.

Published
2001

20. Blood pressure in childhood and adolescence: the Italian normal standards. Study Group on Hypertension' of the Italian Society of Pediatrics'

Author

Menghetti, E., Virdis, R., Strambi, M., Patriarca, V., Riccioni, M. A., Fossali, E., Spagnolo, A., Lucidi, G., De Toni, T., Marciano, C., Aironi, C., Pantano, L., De Felice, M. A., Bevilacqua, L., Righetti, G., Maietta, G., Balli, F., Cuoghi, D., Venturi, P., Turrini, M., Perego, L., Baracchi, B., Giovannelli, G., Antonini Canterin, A., Donadon, W., Cignacco, C. G., Marchesini, F., Rovere, M., Zanata, G., Dal Palù, C., Ambruzzi, A. M., Sciarpelletti, A., Meli, P., Tucciarone, L., Desantis, F., Cellitti, R., Marsili, D., Schwarzenberg, T. L., Acconcia, P., Canibus, R., Paciotti, F., Longhini, M. A., Dettori, M., Pinelli, L., Maffeis, Claudio, Romano, A., Barberi, I., Calabrò, M. P., Ragusa, G., Perri, D., Ronconi, M., and Picco, G.

Subjects
Male, blood pressure, Children, Adolescent, Italy, Child, Preschool, Humans, Female, Reference Standards, Child
Abstract

To develop a national standard level of blood pressure (BP) for Italian children on the basis of a large sample of the population.We analyzed data available from 21 Italian studies conducted according to the recommendations of the American Task Force between 1988 and 1994. Percentile curves of systolic and diastolic BP were constructed by fitting a third-order polynomial model of BP on age and height using multiple regression analysis.BP was measured in 11 519 healthy individuals (6258 boys and 5261 girls) aged 5-17 years in various locations throughout Italy. All measurements were performed at school.Percentile curves (5th, 10th, 25th, 50th, 75th, 90th and 95th) of systolic and diastolic BP are reported by age and by height for males and females.With respect to the American standards, the levels in Italy for the 90th and 95th percentiles were 3-8 mmHg higher for systolic and diastolic BP in both sexes between 5 and 12 years of age, and 2-3 mmHg higher in older males. With respect to Northern Europe, in the lower ages, levels in Italy were quite similar, although slightly higher, whereas in late adolescence, the Northern European levels were much higher, especially in males, with differences of 4-5 mmHg for the mean values and 8-12 mmHg for the 95th percentile.

Published
1999

28. Genitourinary Anomalies in Mowat-Wilson Syndrome with Deletion/Mutation in the Zinc Finger Homeo Box 1B Gene (ZFHX1B)

Author

Garavelli, L., primary, Cerruti-Mainardi, P., additional, Virdis, R., additional, Pedori, S., additional, Pastore, G., additional, Godi, M., additional, Provera, S., additional, Rauch, A., additional, Zweier, C., additional, Zollino, M., additional, Banchini, G., additional, Longo, N., additional, Mowat, D., additional, Neri, G., additional, and Bernasconi, S., additional

Published
2005
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31. Neurofibromatosis Type 1 and Precocious Puberty

Author

Virdis, R., primary, Sigorini, M., additional, Laiolo, A., additional, Lorenzetti, E., additional, Street, M.E., additional, Villani, A.R., additional, Donadio, A., additional, Pisani, F., additional, Terzi, C., additional, and Garavelli, L., additional

Published
2000
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37. EVIDENCES OF OVARIAN HYPERFUNCTION IN ADDLESCENT GIRLS WITH INSULIN DEPENDENT DIABETES MELLITUS (IDDM) AND MENSTRUAL DISORDERS

Author

Virdis, R, primary, Vanelli, M, additional, Ibanez, L, additional, Terzi, C, additional, Street, M, additional, Defanti, A, additional, Zampolli, M, additional, Potau, N, additional, Ghizzoni, L, additional, Cantoni, C, additional, Bonacini, L, additional, Vicens-Calvet, E, additional, Bernasconi, S, additional, and Giovannelli, G, additional

Published
1993
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44. Ipertensione arteriosa nell'adolescente

Author

Virdis, R., Terzi, C., Mari, S., Cantu', M. C., Ghizzoni, Lucia, Benassi, L., Cassaro, F., Vanelli, M., Bernasconi, S., and Giovannelli, G.

Published
1985

49. A hand-made supplementary food for malnourished children (*)

Author

Vanelli, M., Contini, S., Virdis, R., Corradi, M., Cremonini, G., Fantoni, S., Marchesi, M., Mele, A., Monti, F., Pagano, B., Proietti, I., Savina, F., Verna, M., Vitale, R., Zanzucchi, M., Brighenti, F., Vittadini, E., Daniele Del Rio, Scazzina, F., and Porcu, A.

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