Search

Your search keyword '"Biancheri, R."' showing total 351 results
Start Over Author "Biancheri, R."
351 results on '"Biancheri, R."'

2. POMT1 and POMT2 mutations in CMD patients: A multicentric Italian study

Author

Messina, S., Mora, M., Pegoraro, E., Pini, A., Mongini, T., D’Amico, A., Pane, M., Aiello, C., Bruno, C., Biancheri, R., Berardinelli, A., Boito, C., Farina, L., Morandi, L., Moroni, I., Pezzani, R., Pichiecchio, A., Ricci, E., Ruggieri, A., Saredi, S., Scuderi, C., Tessa, A., Toscano, A., Tortorella, G., Trevisan, C.P., Uggetti, C., Santorelli, F.M., Bertini, E., and Mercuri, E.

Published
2008
Full Text
View/download PDF

9. Valutazione dei rischi e sorveglianza sanitaria in ottica di genere: proposta di strumenti operativi

Author

Foddis, R, Ficini, G, Cristaudo, A, Pistelli, A, Carducci, A, Caponi, E, Biancheri, R, Ninci, A, Breschi, C, Basso, A, Bonfiglioli, R, Larese Filon, F, Simonini, S, Spatari, G, Tomao, P, Verso, Mg, Scapellato, Ml, Foddis, R, Ficini, G, Cristaudo, A, Pistelli, A, Carducci, A, Caponi, E, Biancheri, R, Ninci, A, Breschi, C, Basso, A, Bonfiglioli, R, Larese Filon, F, Simonini, S, Spatari, G, Tomao, P, Verso, Mg, Scapellato, Ml, Foddis, R., Ficini, G., Cristaudo, A., Pistelli, A., Carducci, A., Caponi, E., Biancheri, R., Ninci, A., Breschi, C., Basso, A., Bonfiglioli, R., Filon, F., Simonini, S., Spatari, G., Tomao, P., Verso, M., and Scapellato, M.

Subjects
Settore MED/44 - Medicina Del Lavoro, occupational risk, helth medical surveillance, Gender, differenze di genere, valutazione dei rischi, sorveglianza sanitaria
Abstract

Applicare appieno i principi del gender main-streaming, in accordo alle indicazioni della Comunità Europea, alla tutela della salute e sicurezza nei luoghi di lavoro significa in pratica rivedere tutti gli aspetti della prevenzione sotto l'ottica di genere, vale a dire tenendo in considerazione le differenze di sesso e di genere tra lavoratori e lavoratrici non solo come determinanti della salute, ma ancor più nel caso specifico come determinanti del rischio. In questo passaggio evolutivo il ruolo del medico competente è particolarmente importante. In questo lavoro vengono proposti alcuni strumenti operativi che possono concretamente implementare l'ottica di genere nei diversi ambiti della prevenzione, nei quali il medico competente ha un ruolo di primo piano, se non esclusivo, quali la valutazione dei rischi, la formazione e la sorveglianza sanitaria.

Published
2017

13. La prospettiva di genere, la medicalizzazione della vita e la digitalizzazione dei percorsi di salute

Author

Biancheri R., Canestrini P., Corposanto C., Lombi L., Corbisiero F., Ruspini E., and Biancheri R., Canestrini P., Corposanto C., Lombi L.

Subjects
Settore SPS/07 - SOCIOLOGIA GENERALE, Salute, Sociologia della salute, medicalizzazione, Digital Health, genere, Genere, Salute, e-methods, e-methods, digitalizzazione salute
Abstract

Il contributo delinea le tematiche innovative che riguardano gli studi di sociologia della salute.Nello specifico, sono presi ad esame tre grandi topic: 1) lo sviluppo di un orientamento attento alla dimensione di genere; 2) la medicalizzazione della via; 3. la digitalizzazione dei percorsi di salute.

Published
2016

16. Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion

Author

Denora, Ps, Schlesinger, D, Casali, Carlo, Kok, F, Tessa, A, Boukhris, A, Azzedine, H, Dotti, Mt, Bruno, C, Truchetto, J, Biancheri, R, Fedirko, E, DI ROCCO, M, Bueno, C, Malandrini, A, Battini, R, Sickl, E, DE LEVA MF, BOESPFLUG TANGUY, O, Silvestri, G, Simonati, A, Said, E, Ferbert, A, Criscuolo, C, Heinimann, K, Modoni, A, Weber, P, Palmeri, S, Plasilova, M, Pauri, Flavia, Cassandrini, D, Battisti, C, Pini, A, Tosetti, M, Hauser, E, Masciullo, M, DI FABIO, R, Piccolo, F, Denis, E, Cioni, G, Massa, R, Della, Giustina, E, Calabrese, O, Melone, Ma, DE MICHELE, G, Federico, A, Bertini, E, Durr, A, Brockmann, K, VAN DER KNAAP MS, Zatz, M, Filla, A, Brice, A, Stevanin, G, Santorelli, Fm, Denora, P., Schlesinger, D., Casali, C., Kok, F., Tessa, A., Boukhris, A., Azzedine, H., Dotti, M., Bruno, C., Trucchetto, J., Biancheri, R., Fedirko, E., DI ROCCO, M., Bueno, C., Malandrini, A., Battini, R., Sickl, E., DE LEVA, F., BOESPFLUG TANGUY, O., Silvestri, G., Simonati, A., Said, E., Ferbert, A., Criscuolo, C., Heinimann, K., Modoni, A., Weber, P., Palmeri, S., Plasilova, M., Pauri, F., Cassandrini, D., Battisti, C., Pini, A., Tosetti, M., Hauser, E., Masciullo, M., DI FABIO, R., Piccolo, F., Denis, E., Cioni, G., Massa, R., DELLA GIUSTINA, E., Calabrese, O., Melone, Mariarosa Anna Beatrice, DE MICHELE, G., Federico, A., Bertini, E., Durr, A., Brockmann, K., VAN DER KNAPP, M., Zatz, M., Filla, A., Brice, A., Stevanin, G., Santorelli, F., Pediatric surgery, NCA - Childhood White Matter Diseases, Denora, P, Schlesinger, D, Casali, C, Kok, F, Tessa, A, Boukhris, A, Azzedine, H, Dotti, Mt, Bruno, C, Truchetto, J, Biancheri, R, Fedirko, E, Di Rocco, M, Bueno, C, Malandrini, A, Battini, R, Sickl, E, de Leva, Mf, Boespflug Tanguy, O, Silvestri, G, Simonati, A, Said, E, Ferbert, A, Criscuolo, C, Heinimann, K, Modoni, A, Weber, P, Palmeri, S, Plasilova, M, Pauri, F, Cassandrini, D, Battisti, C, Pini, A, Tosetti, M, Hauser, E, Masciullo, M, Fabio, Rd, Piccolo, F, Denis, E, Cioni, G, Massa, R, Giustina, Ed, Calabrese, O, Melone, Ma, DE MICHELE, Giuseppe, Federico, A, Bertini, E, Durr, A, Brockmann, K, van der Knaap, M, Zatz, M, Filla, Alessandro, Brice, A, Stevanin, G, Santorelli, F. M., Di Fabio, R, Della Giustina, E, and Other departments

Subjects
Male, ARHSP, DNA Mutational Analysis, medicine.disease_cause, Mutation screening, SPG11, TCC, 0302 clinical medicine, Gene Frequency, Genotype, Gene duplication, Missense mutation, Genetics (clinical), Genetics, 0303 health sciences, Mutation, education.field_of_study, medicine.diagnostic_test, mutation screening, Middle Aged, Pedigree, 3. Good health, Morocco, Female, Settore MED/26 - Neurologia, Brazil, Adult, Adolescent, ARHSP, TCC, SPG11, mutation screening, Population, Genes, Recessive, Biology, Young Adult, 03 medical and health sciences, medicine, Humans, Genetic Testing, education, Allele frequency, 030304 developmental biology, Genetic testing, Family Health, Base Sequence, Portugal, Spastic Paraplegia, Hereditary, MUTAÇÃO GENÉTICA, Haplotype, Proteins, Haplotypes, Algeria, Agenesis of Corpus Callosum, Gene Deletion, 030217 neurology & neurosurgery
Abstract

Autosomal recessive spastic paraplegia with thinning of corpus callosum (ARHSP-TCC) is a complex form of HSP initially described in Japan but subsequently reported to have a worldwide distribution with a particular high frequency in multiple families from the Mediterranean basin. We recently showed that ARHSP-TCC is commonly associated with mutations in SPG11/KIAA1840 on chromosome 15q. We have now screened a collection of new patients mainly originating from Italy and Brazil, in order to further ascertain the spectrum of mutations in SPG11, enlarge the ethnic origin of SPG11 patients, determine the relative frequency at the level of single Countries (i.e., Italy), and establish whether there is one or more common mutation. In 25 index cases we identified 32 mutations; 22 are novel, including 9 nonsense, 3 small deletions, 4 insertions, 1 in/del, 1 small duplication, 1 missense, 2 splice-site, and for the first time a large genomic rearrangement. This brings the total number of SPG11 mutated patients in the SPATAX collection to 111 cases in 44 families and in 17 isolated cases, from 16 Countries, all assessed using homogeneous clinical criteria. While expanding the spectrum of mutations in SPG11, this larger series also corroborated the notion that even within apparently homogeneous population a molecular diagnosis cannot be achieved without full gene sequencing.

Published
2009
Full Text
View/download PDF

17. Hypomyelination and Congenital Cataract

Author

Biancheri, R., Zara, F., Bruno, C., Gazzerro, E., Rossi, A., Knaap, M., Minetti, C., Pagon, R.A., Adam, M.P., Ardinger, H.H., Pediatric surgery, NCA - Childhood White Matter Diseases, Pediatrics, and NCA - Brain mechanisms in health and disease

Published
2015

19. Nota metodologica

Author

BURGALASSI, MARCO, FOSSI S, BIANCHERI R, CAPOBIANCO R., Burgalassi M., Capobianco, Rosa, Biancheri, S., Burgalassi, Marco, Fossi, S., BURGALASSI M, Fossi, S, Biancheri, R, and Capobianco, R.

Subjects
terzo settore, indice di valutazione positiva, cooperazione sociale, analisi delle corrispondenze, welfare locale, campionamento stratificato
Abstract

Nel capitolo,e in particolare nel paragrafo <>, è illustrato il piano di campionamento adottato per selezionare un campione rappresentativo di cittadini residenti nella Bassa Val di Cecina al fine di rilevare il livello di conoscenza della popolazione rispetto al Consorzio Nuovo Futuro e ai servizi offerti dalla cooperativa. Di seguito, nel paragrafo <> vengono illustrate alcune delle tecniche uni variate e multivariate utilizzate per l’analisi dei dati.

Published
2008

20. GDAP1 mutation in autosomal recessive Charcot-Marie-Tooth with pyramidal features

Author

Biancheri R, Zara F, Striano P, Pedemonte M, Cassandrini D, Stringara S, Schenone A, Bellone E, Minetti C., MANGANELLI, FIORE, SANTORO, LUCIO, Biancheri, R, Zara, F, Striano, P, Pedemonte, M, Cassandrini, D, Stringara, S, Manganelli, Fiore, Santoro, Lucio, Schenone, A, Bellone, E, and Minetti, C.

Published
2006

22. La prospettiva di genere, la medicalizzazione della vita e la digitalizzazione dei percorsi di salute

Author

Corbisiero Fabio, Ruspini Elisabetta, Biancheri, R, Canestrini, P, Corposanto, C, Lombi, Linda, Lombi, Linda (ORCID:0000-0002-8486-1021), Corbisiero Fabio, Ruspini Elisabetta, Biancheri, R, Canestrini, P, Corposanto, C, Lombi, Linda, and Lombi, Linda (ORCID:0000-0002-8486-1021)

Abstract

Il contributo delinea le tematiche innovative che riguardano gli studi di sociologia della salute.Nello specifico, sono presi ad esame tre grandi topic: 1) lo sviluppo di un orientamento attento alla dimensione di genere; 2) la medicalizzazione della via; 3. la digitalizzazione dei percorsi di salute.

Published
2016

26. Encefalite da anticorpi anti-NMDAR in età pediatrica: dati preliminari del Gruppo di Lavoro Italiano sulle Encefaliti da Anticorpi anti-NMDAR

Author

Sartori, Stefano, Nosadini, Margherita, Toldo, Irene, Pelizza, M. F., Boniver, Clementina, Zamponi, N., Dilena, R., Cappellari, A., Cantalupo, G., Dalla Bernardina, B., Falsaperla, R., Giunta, L., Serino, D., Vigevano, F., Mancardi, M. M., Biancheri, R., Santangelo, G., Natali Sora, M. G., Pruna, D., Cesaroni, E., and Suppiej, Agnese

Published
2014

28. Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders

Author

Lorena, Travaglini, Francesco, Brancati, Jennifer, Silhavy, Miriam, Iannicelli, Elizabeth, Nickerson, Nadia, Elkhartoufi, Eric, Scott, Emily, Spencer, Stacey, Gabriel, Sophie, Thomas, Bruria, Ben Zeev, Enrico, Bertini, Eugen, Boltshauser, Malika, Chaouch, Maria, Roberta Cilio, Mirjam, M. de Jong, Hulya, Kayserili, Gonul, Ogur, Andrea, Poretti, Sabrina, Signorini, Graziella, Uziel, Maha, S. Zaki, Ali Pacha, L, Zankl, A, Leventer, R, Grattan Smith, P, Janecke, A, Koch, J, Freilinger, M, D'Hooghe, M, Sznajer, Y, Vilain, C, Van Coster, R, Demerleir, L, Dias, K, Moco, C, Moreira, A, Ae Kim, C, Maegawa, G, Dakovic, I, Loncarevic, D, Mejaski Bosnjak, V, Petkovic, D, Abdel Salam GM, Abdel Aleem, A, Marti, I, Pinard, Jm, Quijano Roy, S, Sigaudy, S, de Lonlay, P, Romano, S, Verloes, A, Touraine, R, Koenig, M, Dollfus, H, Flori, E, Fradin, M, Lagier Tourenne, C, Messer, J, Collignon, P, Penzien, Jm, Bussmann, C, Merkenschlager, A, Philippi, H, Kurlemann, G, Grundmann, K, Dacou Voutetakis, C, Kitsiou Tzeli, S, Pons, R, Jerney, J, Halldorsson, S, Johannsdottir, J, Ludvigsson, P, Phadke, Sr, Girisha, Km, Doshi, H, Udani, V, Kaul, M, Stuart, B, Magee, A, Spiegel, R, Shalev, S, Mandel, H, Lev, D, Michelson, M, Idit, M, Ben Zeev, B, Gershoni Baruch, R, Ficcadenti, A, Fischetto, R, Gentile, M, Della Monica, M, Pezzani, M, Graziano, C, Seri, M, Benedicenti, F, Stanzial, F, Borgatti, R, Romaniello, R, Accorsi, P, Battaglia, S, Fazzi, E, Giordano, L, Pinelli, L, Boccone, L, Barone, R, Sorge, G, Briatore, E, Bigoni, S, Ferlini, A, Donati, Ma, Biancheri, R, Caridi, G, Divizia, Mt, Faravelli, F, Ghiggeri, G, Mirabelli, M, Pessagno, A, Rossi, A, Uliana, V, Amorini, M, Briguglio, M, Briuglia, S, Salpietro, Cd, Tortorella, G, Adami, A, Bonati, Mt, Castorina, P, D'Arrigo, S, Lalatta, F, Marra, G, Moroni, I, Pantaleoni, C, Riva, D, Scelsa, B, Spaccini, L, Del Giudice, E, Ludwig, K, Permunian, A, Suppiej, A, Macaluso, C, Pichiecchio, A, Battini, R, Di Giacomo, M, Priolo, M, Timpani, P, Pagani, G, Di Sabato ML, Emma, F, Leuzzi, V, Mancini, F, Majore, S, Micalizzi, A, Parisi, P, Romani, M, Stringini, G, Zanni, G, Ulgheri, L, Pollazzon, M, Renieri, Alessandra, Belligni, E, Grosso, E, Pieri, I, Silengo, M, Devescovi, R, Greco, D, Romano, C, Cazzagon, M, Simonati, A, Al Tawari AA, Bastaki, L, Mégarbané, A, Sabolic Avramovska, V, Said, E, Stromme, P, Koul, R, Rajab, A, Azam, M, Barbot, C, Salih, Ma, Tabarki, B, Jocic Jakubi, B, Martorell Sampol, L, Rodriguez, B, Pascual Castroviejo, I, Gener, B, Puschmann, A, Starck, L, Capone, A, Lemke, J, Fluss, J, Niedrist, D, Hennekam, Rc, Wolf, N, Gouider Khouja, N, Kraoua, I, Ceylaner, S, Teber, S, Akgul, M, Anlar, B, Comu, S, Kayserili, H, Yüksel, A, Akcakus, M, Caglayan, Ao, Aldemir, O, Al Gazali, L, Sztriha, L, Nicholl, D, Woods, Cg, Bennett, C, Hurst, J, Sheridan, E, Barnicoat, A, Hemingway, C, Lees, M, Wakeling, E, Blair, E, Bernes, S, Sanchez, H, Clark, Ae, Demarco, E, Donahue, C, Sherr, E, Hahn, J, Sanger, Td, Gallager, Te, Daugherty, C, Krishnamoorthy, Ks, Sarco, D, Walsh, Ca, Mckanna, T, Milisa, J, Chung, Wk, De Vivo DC, Raynes, H, Schubert, R, Seward, A, Brooks, Dg, Goldstein, A, Caldwell, J, Finsecke, E, Maria, Bl, Holden, K, Cruse, Rp, Karaca, E, Swoboda, Kj, Viskochil, D, Dobyns, Wb, Colin, Johnson, Tania, Attié Bitach, Joseph, G. Gleeson, Enza, Maria Valente, ANS - Amsterdam Neuroscience, APH - Amsterdam Public Health, Human Genetics, Paediatrics, OMÜ, University of Zurich, Valente, Enza Maria, Fluss, Joel Victor, Travaglini, L, Brancati, F, Silhavy, J, Iannicelli, M, Nickerson, E, Elkhartoufi, N, Scott, E, Spencer, E, Gabriel, S, Thomas, S, Ben Zeev, B, Bertini, E, Boltshauser, E, Chaouch, M, Cilio, Mr, de Jong, Mm, Kayserili, H, Ogur, G, Poretti, A, Signorini, S, Uziel, G, Zaki, M, Johnson, C, Atti? Bitach, T, Gleeson, Jg, Valente, Em, International JSRD Study, Group, and DEL GIUDICE, Ennio

Subjects
Male, Ciliata -- Anatomy, Proband, 10039 Institute of Medical Genetics, Meckel syndrome, RPGRIP1L, Syndromes, INPP5E, MODIFIER, Phosphoric Monoester Hydrolases/genetics, Ciliopathies, Polycystic Kidney Diseases/diagnosis/genetics, CILIUM, 0302 clinical medicine, Gene Frequency, Cerebellum, Prenatal Diagnosis, RETINAL DEGENERATION, Prevalence, MECKEL, ciliopathies, Joubert syndrome and related disorders, Eye Abnormalities, Child, Genetics (clinical), Encephalocele, Joubert syndrome, Genetics, Polycystic Kidney Diseases, 0303 health sciences, ddc:618, Cerebellar Diseases/diagnosis/genetics, Kidney Diseases, Cystic, Pedigree, 3. Good health, Phenotype, Child, Preschool, Medical genetics, Female, Retinitis Pigmentosa, FORM, Ciliary Motility Disorders, Heterozygote, medicine.medical_specialty, 2716 Genetics (clinical), Adolescent, Molecular Sequence Data, Encephalocele/diagnosis/genetics, AHI1, 610 Medicine & health, Biology, Retina, Article, Ciliopathies, INPP5E, Joubert syndrome and related disorders, Meckel syndrome, NO, Ciliary Motility Disorders/diagnosis/genetics, 03 medical and health sciences, 1311 Genetics, Cerebellar Diseases, REVEALS, medicine, Humans, Abnormalities, Multiple, Amino Acid Sequence, Kidney Diseases, Cystic/diagnosis/genetics, abnormalities, multiple, adolescent, amino acid sequence, cerebellar diseases, cerebellum, child, preschool, ciliary motility disorders, encephalocele, eye abnormalities, female, heterozygote, humans, infant, kidney diseases, cystic, male, molecular sequence data, pedigree, phosphoric monoester hydrolases, polycystic kidney diseases, prenatal diagnosis, prevalence, retina, gene frequency, mutation, phenotype, 030304 developmental biology, Eye Abnormalities/diagnosis/genetics, COACH SYNDROME, Retina/abnormalities, Genetic heterogeneity, Respiration disorders -- Therapy, Infant, medicine.disease, Phosphoric Monoester Hydrolases, INPP5E mutation, 10036 Medical Clinic, Mutation, 030217 neurology & neurosurgery
Abstract

Joubert syndrome and related disorders (JSRD) are clinically and genetically heterogeneous ciliopathies sharing a peculiar midbrain–hindbrain malformation known as the ‘molar tooth sign’. To date, 19 causative genes have been identified, all coding for proteins of the primary cilium. There is clinical and genetic overlap with other ciliopathies, in particular with Meckel syndrome (MKS), that is allelic to JSRD at nine distinct loci. We previously identified the INPP5E gene as causative of JSRD in seven families linked to the JBTS1 locus, yet the phenotypic spectrum and prevalence of INPP5E mutations in JSRD and MKS remain largely unknown. To address this issue, we performed INPP5E mutation analysis in 483 probands, including 408 JSRD patients representative of all clinical subgroups and 75 MKS fetuses. We identified 12 different mutations in 17 probands from 11 JSRD families, with an overall 2.7% mutation frequency among JSRD. The most common clinical presentation among mutated families (7/11, 64%) was Joubert syndrome with ocular involvement (either progressive retinopathy and/or colobomas), while the remaining cases had pure JS. Kidney, liver and skeletal involvement were not observed. None of the MKS foetuses carried INPP5E mutations, indicating that the two ciliopathies are not allelic at this locus., peer-reviewed

Published
2013

29. Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletions

Author

Ferraris, A, Bernardini, L, Sabolic Avramovska, V, Zanni, G, Loddo, S, Sukarova Angelovska, E, Parisi, V, Capalbo, A, Tumini, S, Travaglini, L, Mancini, F, Duma, F, Barresi, S, Novelli, A, Mercuri, E, Tarani, L, Italian CBCD Study Group, Bertini, E, Dallapiccola, B, Collaborators: Arrigoni F, Valente E. M., Borgatti, R, Romaniello, R, Accorsi, P, Fazzi, E, Giordano, L, Pinelli, L, Biancheri, R, Mirabelli, M, Rossi, A, Briguglio, M, Tortorella, G, Chiapparini, L, D' Arrigo, S, Moroni, I, Pantaleoni, C, Spaccini, L, Uziel, G, D' Amico, A, Del Giudice, E, Pichiecchio, A, Signorini, S, Battini, R, Casarani, M, Colafati, S, Digilio, Mc, Leuzzi, V, Micalizzi, A, Romani, M, Spalice, A, Vitiello, G, Cirillo, Margherita, Simonati, A., Ferraris, A, Bernardini, L, Sabolic Avramovska, V, Zanni, G, Loddo, S, Sukarova Angelovska, E, Parisi, V, Capalbo, A, Tumini, S, Travaglini, L, Mancini, F, Duma, F, Barresi, S, Novelli, A, Mercuri, E, Tarani, L, Italian, CBCD Study Group, and DEL GIUDICE, Ennio

Subjects
Dandy-Walker malformation, Wisconsin syndrome, 3q deletion, ZIC1-ZIC4 genes, Hemizygosity, 0302 clinical medicine, Dandy–Walker syndrome, Ptosis, Genetics(clinical), Pharmacology (medical), Child, Genetics (clinical), Medicine(all), Genetics, 0303 health sciences, 030305 genetics & heredity, Zinc Fingers, General Medicine, Single Nucleotide, Penetrance, Phenotype, Child, Preschool, Pair 3, Female, Chromosomes, Human, Pair 3, medicine.symptom, Chromosome Deletion, zic1-zic4 genes, Human, Adult, wisconsin syndrome, dandy-walker malformation, Biology, ZIC1, Polymorphism, Single Nucleotide, Chromosomes, 03 medical and health sciences, Young Adult, Wisconsin, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, medicine, Humans, Polymorphism, Preschool, Genetic Association Studies, Research, medicine.disease, Blepharophimosis, Human genetics, Face, Dandy-Walker Syndrome, 030217 neurology & neurosurgery, Transcription Factors
Abstract

Background The Dandy-Walker malformation (DWM) is one of the commonest congenital cerebellar defects, and can be associated with multiple congenital anomalies and chromosomal syndromes. The occurrence of overlapping 3q deletions including the ZIC1 and ZIC4 genes in few patients, along with data from mouse models, have implicated both genes in the pathogenesis of DWM. Methods and results Using a SNP-array approach, we recently identified three novel patients carrying heterozygous 3q deletions encompassing ZIC1 and ZIC4. Magnetic resonance imaging showed that only two had a typical DWM, while the third did not present any defect of the DWM spectrum. SNP-array analysis in further eleven children diagnosed with DWM failed to identify deletions of ZIC1-ZIC4. The clinical phenotype of the three 3q deleted patients included multiple congenital anomalies and peculiar facial appearance, related to the localization and extension of each deletion. In particular, phenotypes resulted from the variable combination of three recognizable patterns: DWM (with incomplete penetrance); blepharophimosis, ptosis, and epicanthus inversus syndrome; and Wisconsin syndrome (WS), recently mapped to 3q. Conclusions Our data indicate that the 3q deletion is a rare defect associated with DWM, and suggest that the hemizygosity of ZIC1-ZIC4 genes is neither necessary nor sufficient per se to cause this condition. Furthermore, based on a detailed comparison of clinical features and molecular data from 3q deleted patients, we propose clinical diagnostic criteria and refine the critical region for WS.

Published
2013

31. Pontine Tegmental Cap Dysplasia: developmental and cognitive outcome in three adolescent patients

Author

Briguglio, Marilena, Pinelli, L., Giordano, L., Ferraris, A., Germano', Eva, Micheletti, S., Severino, M. S., Bernardini, L., Loddo, S., Tortorella, Gaetano, Ormitti, F., Gasparotti, R., Borgatti, R., Romaniello, R., Arrigoni, F., Accorsi, P., Galil, J, Biancheri, R., Mirabelli, M., D’Amico, A., Del Giudice, E., Amorini, M., Briuglia, Silvana, Gallizzi, Romina, Gagliano, Antonella, La Torre, A., SALPIETRO DAMIANO, Carmelo, Chiapparini, L., D’Arrigo, S., Pantaleoni, C., Fiocchi, I., Triulzi, F., Pichiecchio, A., Signorini, S., Battini, R., Casarano, M., Di Sabato, M. L., Leuzzi, V., Bertini, E., Colafati, S., Zanni, G., Fazzi, E., Mercuri, E., Vitiello, G., Romani, M., Micalizzi, A., Simonati, A., Rossi, A., Valente, E. M., Briguglio, M, Pinelli, L, Giordano, L, Ferraris, A, Germanò, E, Micheletti, S, Severino, M, Bernardini, L, Loddo, S, Tortorella, G, Ormitti, F, Gasparotti, R, Rossi, A, Valente, Em, CBCD Study, Group, and DEL GIUDICE, Ennio

Subjects
Decussation, Male, Pediatrics, medicine.medical_specialty, Adolescent, Diffusion Tensor Tractography, lcsh:Medicine, Case Report, Nervous System Malformations, Adolescent age, spectrum, 030218 nuclear medicine & medical imaging, 03 medical and health sciences, 0302 clinical medicine, Rare Diseases, children, Swallowing, pontine tegmental cap dysplasia, magnetic resonance imaging, medicine, Pedunculopontine Tegmental Nucleus, Humans, Genetics(clinical), PTCD, Pharmacology (medical), Neuropsychological assessment, disorders, Genetics (clinical), Cognitive deficit, Medicine(all), Pontine Tegmental Cap Dysplasia, brainstem malformation, cerebellar malformation, medicine.diagnostic_test, business.industry, lcsh:R, Cognition, General Medicine, Diffusion Tensor Imaging, Malformations, hindbrain, Pontine tegmental cap dysplasia, Female, Brainstem, medicine.symptom, business, 030217 neurology & neurosurgery, Tractography
Abstract

Pontine Tegmental Cap Dysplasia (PTCD) is a recently described, rare disorder characterized by a peculiar cerebellar and brainstem malformation. Nineteen patients have been reported to date, of which only one in the adolescent age, and data on the clinical, cognitive and behavioural outcome of this syndrome are scarce. Here we describe three adolescent patients with PTCD. All presented bilateral deafness and multiple cranial neuropathies, variably associated with skeletal, cardiac and gastro-intestinal malformations. Feeding and swallowing difficulties, that are often causative of recurrent aspiration pneumonias and death in the first years of life, completely resolved with age in all three patients. Neuropsychological assessment showed borderline to moderate cognitive impairment, with delay in adaptive functioning, visual-spatial and language deficits. Two of three patients also showed mild behavioural problems, although their overall socialization abilities were well preserved. Cochlear implantation in two patients significantly improved their relational and learning abilities. Fibre tractography confirmed the abnormal bundle of transversely oriented fibres forming the typical pontine "tegmental cap" and absence of decussation of the superior cerebellar peduncles, supporting the hypothesis that PTCD results from abnormal axonal guidance and/or migration. These data indicate that PTCD may have a favourable long-term outcome, with borderline cognitive deficit or even normal cognition and partially preserved speech.

Published
2011

32. Interpretare il Genere. Nuove Tecnologie e Dinamiche di salute

Author

Biancheri, R, RUSPINI, ELISABETTA, Ruspini, E, Biancheri, R, RUSPINI, ELISABETTA, and Ruspini, E

Abstract

Gli Studi di Genere hanno arricchito le interrogazioni e le pratiche di ricerca delle Scienze Sociali: individuando nuove categorie di analisi e percorrendo trasversalmente i temi della Sociologia rappresentano una componente critica ed innovativa della disciplina. I saggi raccolti in questo volume – che testimoniano la collaborazione tra due Sezioni dell'AIS-Associazione Italiana di Sociologia: “Sociologia della Salute e Medicina” e “Studi di Genere” – affrontano, attraverso il filo rosso della prospettiva gender-sensitive, questioni di grandi attualità come la relazione tra identità di genere, media e nuove tecnologie, le dinamiche di salute, le professioni femminili nella scienza medica. L’obiettivo è quello di offrire un contributo al dibattito scientifico, aprendo anche a percorsi conoscitivi che certamente potranno fornire preziosi spunti di riflessione per il futuro.

Published
2015

33. A novel polymorphic AP-1 binding element of the GFAP promoter is associated with different allelic transcriptional activities

Author

Bachetti, T, DI ZANNI, E, Lantieri, Francesca, Caroli, F, Regis, S, Filocamo, M, Rainero, I, Gallone, S, Cilia, R, Romano, S, Savoiardo, M, Pareyson, D, Biancheri, R, Ravazzolo, Roberto, and Ceccherini, I.

Subjects
Transcriptional Activation, Binding Sites, Transcription, Genetic, AP-1, Cell Line, Transcription Factor AP-1, single nucleotide polymorphisms, gfap promoter, ap-1, Gene Frequency, Italy, Astrocytes, Glial Fibrillary Acidic Protein, GFAP promoter, Humans, Promoter Regions, Genetic, Alleles
Abstract

The Glial Fibrillary Acidic Protein (GFAP) gene encodes a cytoskeletal protein belonging to the intermediate filament family whose expression is considered as a marker of astrocytes differentiation. GFAP expression, shown to be upregulated as a consequence of brain gliosis, depends on hormones, growth factors, cytokine, and transcription factors and, among these latters, activator protein 1 (AP-1) has been demonstrated to play a crucial role. In this study, we have focused on a 2.2 kb sequence of the regulatory region located upstream of the GFAP gene, searching in a panel of control individuals for single-nucleotide polymorphisms (SNPs) that could modulate GFAP transcription. Among four SNPs of the GFAP promoter whose alleles have been predicted by in silico analysis to induce differences in the pattern of binding transcription factors, we have identified a new AP-1 binding site lying at -250 bp upstream from the GFAP transcriptional start site. The two alleles of this polymorphic locus have shown to bind the AP-1 complex to different extents, thus promoting variable transcriptional activities of the GFAP promoter. Therefore, these SNP alleles may, among others, mediate the effects of GFAP mutations, thus explaining the phenotypic heterogeneity of Alexander disease.

Published
2010

37. Hypomyelination and Congenital Cataract. 2008

Author

Biancheri, R., Zara, F., Bruno, C., Gazzerro, E., Rossi, A., van der Knaap, M.S., Minetti, C., Pediatrics, NCA - Childhood White Matter Diseases, and Neuroscience Campus Amsterdam - Childhood White Matter Diseases

Published
2010

38. Congenital muscular dystrophies with defective glycosylation of dystroglycan: apopulation study

Author

Mercuri, E, Messina, S, Bruno, C, Mora, M, Pegoraro, Elena, Comi, Gp, D'Amico, A, Aiello, C, Biancheri, R, Berardinelli, A, Boffi, P, Cassandrini, D, Laverda, ANNA MARIA, Moggio, M, Morandi, L, Moroni, I, Pane, M, Pezzani, Raffaele, Pichiecchio, A, Pini, A, Minetti, C, Mongini, T, Mottarelli, E, Ricci, E, Ruggieri, A, Saredi, S, Scuderi, C, Tessa, A, Toscano, A, Tortorella, G, Trevisan, CARLO PIETRO, Uggetti, C, Vasco, G, Santorelli, Fm, and Bertini, E.

Published
2009

40. Correlazioni genotipo-fenotipo nelle distrofie muscolari congenite con riduzione dell'alfa-distroglicano: uno studio italiano multicentrico

Author

Messina, Sonia, Bruno, C, Mora, M, Pegoraro, E, Comi, Gp, D'Amico, A, Aiello, C, Biancheri, R, Berardinelli, A, Boffi, P, Cassandrini, D, Laverda, A, Moggio, M, Morandi, L, Moroni, I, Pane, M, Pezzani, R, Pichiecchio, A, Pini, A, Minetti, C, Mongini, T, Mottarelli, E, Ricci, E, Ruggieri, A, Saredi, S, Scuderi, C, Tessa, A, Toscano, A, Tortorella, G, Trevisan, Cp, Uggetti, C, Vasco, G, Santorelli, Fm, and Bertini, E.

Published
2008

42. Genotype-phenotype correlations in congenital muscular dystrophies with defective glycosylation of dystroglycan: a multicentric study

Author

Messina, Sonia, Bruno, C, Mora, M, Pegoraro, E, Comi, Gp, D'Amico, A, Aiello, C, Biancheri, R, Berardinelli, A, Boffi, P, Cassandrini, D, Laverda, A, Moggio, M, Morandi, L, Moroni, I, Pane, M, Pezzani, R, Pichiecchio, A, Pini, A, Minetti, C, Mongini, T, Mottarelli, E, Ricci, E, Ruggieri, A, Saredi, S, Scuderi, C, Tessa, A, Toscano, A, Trevisan, Cp, Uggetti, C, Vasco, G, Santorelli, Fm, and Bertini, E.

Published
2008

47. MR Imaging of Brain-Stem Hypoplasia in Horizontal Gaze Palsy with Progressive Scoliosis

Author

Andrea Rossi, Catala, M., Biancheri, R., Di Comite, R., and Tortori-Donati, P.

Subjects
Adolescent, Scoliosis, Disease Progression, Oculomotor Nerve Diseases, Humans, Female, Pediatrics, Magnetic Resonance Imaging, Brain Stem
Abstract

Summary: We present the MR imaging findings of a girl with horizontal gaze palsy and progressive scoliosis (HGPPS). HGPPS is a rare congenital disorder characterized by absence of conjugate horizontal eye movements and accompanied by progressive scoliosis developing in childhood and adolescence. MR imaging depicted brain-stem hypoplasia with absence of the facial colliculi, presence of a deep midline pontine cleft (split pons sign), and a butterfly configuration of the medulla. These MR imaging features suggest the diagnosis of HGPPS and correlate with the clinical findings. We hypothesize that maldevelopment of dorsomedial brain-stem structures plays a crucial role in the pathogenesis of HGPPS.

Published
2004

48. Confini e identità di genere come fatti sociali formati nello spazio. Consonanze e interazioni con la sociologia dell'ambiente e del territorio

Author

Abbatecola, E, Antonelli, F, Berzano, L, Biancheri, R, Cammarota, A, Caputo, A, Decataldo, A, Di Nicola, P, Facchini, C, Gammaitoni, M, Leccardi, C, Marra, E, Meo, M, Mignella Calvosa, F, Nocenzi, M, Palmisano, S, Perra, MS, Piccone Stella, S, Pilozzi, F, Poggio, B, Ruspini, E, Sarra, G, Sorrentino, R, Vingelli, G, Viteritti, A, MARRA, EZIO, Abbatecola, E, Antonelli, F, Berzano, L, Biancheri, R, Cammarota, A, Caputo, A, Decataldo, A, Di Nicola, P, Facchini, C, Gammaitoni, M, Leccardi, C, Marra, E, Meo, M, Mignella Calvosa, F, Nocenzi, M, Palmisano, S, Perra, MS, Piccone Stella, S, Pilozzi, F, Poggio, B, Ruspini, E, Sarra, G, Sorrentino, R, Vingelli, G, Viteritti, A, and MARRA, EZIO

Published
2014

49. Il prisma del genere nelle analisi delle politiche sociali: dall’assetto macro all’attenzione ai soggetti coinvolti

Author

Abbatecola, E, Antonelli, F, Berzano, L, Biancheri, R, Cammarota, A, Caputo, A, Decataldo, A, Di Nicola, P, Facchini, C, Gammaitoni, M, Leccardi, C, Marra, E, Meo, M, Mignella Calvosa, F, Nocenzi, M, Palmisano, S, Perra, MS, Piccone Stella, S, Pilozzi, F, Poggio, B, Ruspini, E, Sarra, G, Sorrentino, R, Vingelli, G, Viteritti, A, Consiglio Scientifico della Sezione AIS "Studi di Genere", FACCHINI, CARLA, Abbatecola, E, Antonelli, F, Berzano, L, Biancheri, R, Cammarota, A, Caputo, A, Decataldo, A, Di Nicola, P, Facchini, C, Gammaitoni, M, Leccardi, C, Marra, E, Meo, M, Mignella Calvosa, F, Nocenzi, M, Palmisano, S, Perra, MS, Piccone Stella, S, Pilozzi, F, Poggio, B, Ruspini, E, Sarra, G, Sorrentino, R, Vingelli, G, Viteritti, A, Consiglio Scientifico della Sezione AIS "Studi di Genere", and FACCHINI, CARLA

Published
2014

Catalog

Books, media, physical & digital resources
See catalog results