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1. Diagnostic issues faced by a rare disease healthcare network during Covid-19 outbreak: data from the Campania Rare Disease Registry

Author

Limongelli G, Iucolano S, Monda E, Elefante P, De Stasio C, Lubrano I, Caiazza M, Mazzella M, Fimiani F, Galdo M, De Marchi G, Esposito M, Rubino M, Cirillo A, Fusco A, Esposito A, Trama U, Esposito S, Scarano G, Sepe J, Andria G, Orlando V, Menditto E, Chiodini P, Campania Rare Disease, Iolascon A, Franzese A, Sanduzzi Zamparelli A, Tessitore A, Romano A, Venosa A, Nunzia Olivieri A, Bianco A, La Manna A, Cerbone AM, Spasiano A, Agnese Stanziola A, Colao A, De Bellis A, Gambale A, Toriello A, Tufano A, Ciampa A, Maria Risitano A, Pisani A, Russo A, Volpe A, De Martino B, Amato B, De Fusco C, Piscopo C, Selleri C, Tucci C, Pignata C, Cioffi D, Melis D, Pasquali D, De Brasi D, Spitaleri D, Russo D, Martellotta D, De Michele E, Varricchio E, Miraglia Del Giudice E, Coscioni E, Cimino E, Pane F, Tranfa F, Pollio F, Lonardo F, Nuzzi F, Simonelli F, Trojsi F, Habetswallner F, Valentini G, Cerbone G, Parenti G, Tedeschi G, Capasso G, Battista Rossi G, Gaglione G, Sarnelli G, Argenziano G, Bellastella G, De Michele G, Fiorentino G, Spadaro G, Scala I, Santoro L, Zeppa L, Auricchio L, Elio Adinolfi L, Alessio M, Amitrano M, Savanelli MC, Russo MG, Ferrucci MG, Carbone MT, Pellecchia MT, Salerno M, Melone M, Del Donno M, Vitale M, Triggiani M, Della Monica M, Lo Presti M, Tenuta M, Mignogna MD, Schiavulli M, Zacchia M, Brunetti-Pierri N, Iovino P, Moscato P, Iandoli R, Scarpa R, Russo R, Troisi S, Sbordone S, Perrotta S, Fecarotta S, Sampaolo S, Cicalese V., Limongelli, Giuseppe, Iucolano, Stefano, Monda, Emanuele, Elefante, Pasquale, De Stasio, Chiara, Lubrano, Imma, Caiazza, Martina, Mazzella, Marialuisa, Fimiani, Fabio, Galdo, Maria, De Marchi, Giulia, Esposito, Martina, Rubino, Marta, Cirillo, Annapaola, Fusco, Adelaide, Esposito, Augusto, Trama, Ugo, Esposito, Salvatore, Scarano, Gioacchino, Sepe, Joseph, Andria, Generoso, Orlando, Valentina, Menditto, Enrica, Chiodini, Paolo, Iolascon, Achille, Franzese, Adriana, Sanduzzi Zamparelli, Alessandro, Tessitore, Alessandro, Romano, Alfonso, Venosa, Alfredo, Nunzia Olivieri, Alma, Bianco, Andrea, La Manna, Angela, Cerbone, Anna Maria, Spasiano, Anna, Agnese Stanziola, Anna, Colao, Annamaria, De Bellis, Annamaria, Gambale, Antonella, Toriello, Antonella, Tufano, Antonella, Ciampa, Antonio, Maria Risitano, Antonio, Pisani, Antonio, Russo, Antonio, Volpe, Antonio, De Martino, Bernardo, Amato, Bruno, De Fusco, Carmela, Piscopo, Carmelo, Selleri, Carmine, Tucci, Celeste, Pignata, Claudio, Cioffi, Daniela, Melis, Daniela, Pasquali, Daniela, De Brasi, Daniele, Spitaleri, Daniele, De Brasi, Davide, Russo, Domenico, Martellotta, Donata, De Michele, Elisa, Varricchio, Elziario, Miraglia Del Giudice, Emanuele, Coscioni, Enrico, Cimino, Ernesto, Pane, Fabrizio, Tranfa, Fausto, Pollio, Filiberto, Lonardo, Fortunato, Nuzzi, Francesca, Simonelli, Francesca, Trojsi, Francesca, Habetswallner, Francesco, Valentini, Gabriele, Cerbone, Gaetana, Parenti, Giancarlo, Tedeschi, Gioacchino, Capasso, Giovambattista, Battista Rossi, Giovanni, Gaglione, Giovanni, Sarnelli, Giovanni, Argenziano, Giuseppe, Bellastella, Giuseppe, De Michele, Giuseppe, Fiorentino, Giuseppe, Spadaro, Giuseppe, Scala, Iri, Santoro, Lucio, Zeppa, Lucio, Auricchio, Luigi, Elio Adinolfi, Luigi, Alessio, Maria, Amitrano, Maria, Savanelli, Maria Cristina, Russo, Maria Giovanna, Ferrucci, Maria Grazia, Carbone, Maria Teresa, Pellecchia, Maria Teresa, Salerno, Mariacarolina, Melone, Marina, Del Donno, Mario, Vitale, Mario, Triggiani, Massimo, Della Monica, Matteo, Lo Presti, Maurizio, Tenuta, Maurizio, Mignogna, Michele Davide, Schiavulli, Michele, Zacchia, Miriam, Brunetti-Pierri, Nicola, Iovino, Paola, Moscato, Paolo, Iandoli, Raffaele, Scarpa, Raffaele, Russo, Romualdo, Troisi, Salvatore, Sbordone, Sandro, Perrotta, Silverio, Fecarotta, Simona, Sampaolo, Simone, Cicalese, Virgilio, Limongelli, G, Iucolano, S, Monda, E, Elefante, P, De Stasio, C, Lubrano, I, Caiazza, M, Mazzella, M, Fimiani, F, Galdo, M, De Marchi, G, Esposito, M, Rubino, M, Cirillo, A, Fusco, A, Esposito, A, Trama, U, Esposito, S, Scarano, G, Sepe, J, Andria, G, Orlando, V, Menditto, E, Chiodini, P, Campania Rare, Disease, Iolascon, A, Franzese, A, Sanduzzi Zamparelli, A, Tessitore, A, Romano, A, Venosa, A, Nunzia Olivieri, A, Bianco, A, La Manna, A, Cerbone, Am, Spasiano, A, Agnese Stanziola, A, Colao, A, De Bellis, A, Gambale, A, Toriello, A, Tufano, A, Ciampa, A, Maria Risitano, A, Pisani, A, Russo, A, Volpe, A, De Martino, B, Amato, B, De Fusco, C, Piscopo, C, Selleri, C, Tucci, C, Pignata, C, Cioffi, D, Melis, D, Pasquali, D, De Brasi, D, Spitaleri, D, Russo, D, Martellotta, D, De Michele, E, Varricchio, E, Miraglia Del Giudice, E, Coscioni, E, Cimino, E, Pane, F, Tranfa, F, Pollio, F, Lonardo, F, Nuzzi, F, Simonelli, F, Trojsi, F, Habetswallner, F, Valentini, G, Cerbone, G, Parenti, G, Tedeschi, G, Capasso, G, Battista Rossi, G, Gaglione, G, Sarnelli, G, Argenziano, G, Bellastella, G, De Michele, G, Fiorentino, G, Spadaro, G, Scala, I, Santoro, L, Zeppa, L, Auricchio, L, Elio Adinolfi, L, Alessio, M, Amitrano, M, Savanelli, Mc, Russo, Mg, Ferrucci, Mg, Carbone, Mt, Pellecchia, Mt, Salerno, M, Melone, M, Del Donno, M, Vitale, M, Triggiani, M, Della Monica, M, Lo Presti, M, Tenuta, M, Mignogna, Md, Schiavulli, M, Zacchia, M, Brunetti-Pierri, N, Iovino, P, Moscato, P, Iandoli, R, Scarpa, R, Russo, R, Troisi, S, Sbordone, S, Perrotta, S, Fecarotta, S, Sampaolo, S, and Cicalese, V.

Subjects
Pediatrics, medicine.medical_specialty, Coronavirus disease 2019 (COVID-19), Home therapy, rare diseases, 030204 cardiovascular system & hematology, Campania region, Covid-19, Italy, patient registry, Disease Outbreaks, 03 medical and health sciences, COVID-19 Testing, 0302 clinical medicine, Pandemic, Health care, medicine, Retrospective analysis, Humans, AcademicSubjects/MED00860, Registries, 030212 general & internal medicine, Medical diagnosis, Pandemics, Retrospective Studies, business.industry, Public Health, Environmental and Occupational Health, Outbreak, General Medicine, Original Article, business, Delivery of Health Care, Rare disease
Abstract

Background The aims of this study were: to investigate the capacity of the rare disease healthcare network in Campania to diagnose patients with rare diseases during the outbreak of Covid-19; and to shed light on problematic diagnoses during this period. Methods To describe the impact of the Covid-19 pandemic on the diagnosis of patients with rare diseases, a retrospective analysis of the Campania Region Rare Disease Registry was performed. A tailored questionnaire was sent to rare disease experts to investigate major issues during the emergency period. Results Prevalence of new diagnoses of rare disease in March and April 2020 was significantly lower than in 2019 (117 versus 317, P Conclusions This study describes the effects of the Covid-19 outbreak on the diagnosis of rare disease in a single Italian region and investigates potential issues of diagnosis and management during this period.

Published
2021
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2. Contiguous gene syndrome due to an interstitial deletion in Xp22.3 in a boy with ichthyosis, chondrodysplasia punctata, mental retardation and ADHD

Author

LONARDO F, LUQUETTI DV, ANNUNZIATA I, DELLA MONICA M, PERONE L, GREGORI M, ZUFFARDI O, SCARANO G., PARENTI, GIANCARLO, BRUNETTI PIERRI, NICOLA, ANDRIA, GENEROSO, Lonardo, F, Parenti, Giancarlo, Luquetti, Dv, Annunziata, I, DELLA MONICA, M, Perone, L, De, Gregori, M, Zuffardi, O, BRUNETTI PIERRI, Nicola, Andria, Generoso, and Scarano, G.

Subjects
Genetic Markers, Male, Ocular albinism, Chondrodysplasia Punctata, medicine.medical_specialty, Adolescent, Anosmia, Nerve Tissue Proteins, Short stature, Contiguous gene syndrome, Hypogonadotropic hypogonadism, Intellectual Disability, Internal medicine, Genetics, medicine, Humans, Abnormalities, Multiple, Chondrodysplasia punctata, Genetics (clinical), Chromosomes, Human, X, Extracellular Matrix Proteins, Ichthyosis, business.industry, General Medicine, medicine.disease, Dermatology, Osteochondrodysplasia, Phenotype, Endocrinology, Attention Deficit Disorder with Hyperactivity, Cytogenetic Analysis, Chromosome Deletion, medicine.symptom, business
Abstract

Microdeletions of Xp22.3 can result in contiguous gene syndromes, showing the variable association of apparently unrelated clinical manifestations such as ichthyosis, chondrodysplasia punctata, hypogonadotropic hypogonadism, anosmia, ocular albinism, short stature and mental retardation. We report on a boy with ichthyosis, dysmorphic features and mental retardation with ADHD. The patient was born at term after a pregnancy complicated by threatened abortion; decreased fetal movements and low estriol serum levels were reported during the last trimester. The boy was referred to us at the age of 13 years. He presented with aggressive and hyperactive behavior. He had dry hair, a flat face, bilateral lens opacities, a small nose with hypoplastic tip, alae nasi and nares, a high-arched palate with a very small cleft, mixed dentition with 7 unerupted permanent teeth, left sensorineural and right mixed hearing loss with a calcified plaque of the tympanic membrane, marked shortness of terminal phalanges of hands and feet, ichthyosis of trunk and limbs. The genomic interval between AFM248th5 and KAL1 was investigated. PCR analysis showed a deletion in Xp22.3, with the distal breakpoint between the marker AFM248th5 and PABX and the proximal one between DXS278 and KAL1 . Array-CGH and FISH analysis confirmed the interstitial deletion (of about 5.5 Mb) and refined the breakpoints. We discuss the phenotype of our patient in relationship to the deleted segment and the possibility of mental retardation and ADHD genes in the region.

Published
2007
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4. Cryptic deletions are a common finding in 'balanced' reciprocal and complex chromosome rearrangements: a study of 59 cases

Author

DE GREGORI, M, Ciccone, R, Magini, P, Pramparo, T, Gimelli, S, Messa, J, Novara, F, Vetro, A, Rossi, E, Maraschio, P, Bonaglia, Mc, Anichini, C, Ferrero, Gb, Silengo, M, Fazzi, E, Zatterale, A, Fischetto, R, Previdere, C, Belli, S, Turci, A, Calabrese, G, Bernardi, F, Meneghelli, E, Riegel, M, Rocchi, M, Guerneri, S, Lalatta, F, Zelante, L, Romano, C, Fichera, M, Mattina, T, Arrigo, G, Zollino, M, Giglio, S, Lonardo, F, Bonfante, A, Ferlini, Alessandra, Cifuentes, F, VAN ESCH, H, Backx, L, Schinzel, A, Vermeesch, Jr, and Zuffardi, O.

Subjects
Duchenne muscular dystrophy, double-strand break, short tandem repeat, flurorescence in situ hybridisation, STR, CCR, complex chromosome rearrangement, DSB, PATRR, aplindromic AT-rich repeat, comparative genome hybridisation, FISH, BAC, bacterial artificial chromosome, CGH, DMD
Published
2007

12. Molecular diagnosis of synovial sarcoma and characterization of a variant SYT-SSX2 fusion transcript

Author

Fligman, I., Lonardo, F., Jhanwar, S. C., Gerald, W. L., Woodruff, J., and Ladanyi, M.

Subjects
Adult, Male, Neoplasms, Connective Tissue, Adolescent, Base Sequence, Transcription, Genetic, Recombinant Fusion Proteins, Molecular Sequence Data, Proteins, Middle Aged, Polymerase Chain Reaction, Translocation, Genetic, Neoplasm Proteins, Repressor Proteins, Sarcoma, Synovial, Proto-Oncogene Proteins, Humans, Female, Amino Acid Sequence, RNA, Neoplasm, Research Article, Aged
Abstract

The translocation t(X;18)(p11;q11) is seen in > 80% of synovial sarcomas (SS) with informative karyotypes. The breakpoints of the t(X;18) have been cloned and shown to involve two novel genes, SSX (at Xp11) and SYT (at 18q11), which produce a chimeric SYT-SSX transcript as a result of the translocation. Recently, SSX has been shown to be duplicated, with both copies, SSX1 and SSX2, located within distinct subregions of Xp11. We performed a reverse transcriptase polymerase chain reaction (RT-PCR) assay for both chimeric SYT-SSX transcripts in a series of 35 SS (29 monophasic, 6 biphasic) to assess its usefulness in molecular diagnosis and to evaluate the incidence of molecular variants. Of the 35 cases, 29 (83%) showed a specific SYT-SSX RT-PCR product, using a consensus primer for SSX1 and SSX2 Upon excluding three negative cases that had poor quality RNA, the proportion of positives rose to 91% (29/32). The 29 positive cases were further studied using primers specific for either SSX1 or SSX2; 19 cases were positive for SYT-SSX1 and 10 for SYT-SSX2. The relationship of histological subtype (monophasic versus biphasic) to SSX1 or SSX2 involvement was not statistically significant. In a single histologically unremarkable monophasic SS, a slightly larger SYT-SSX2 RT-PCR product was observed. Sequencing of this novel variant showed a 129-bp segment inserted between the usual SYT and SSX2 fusion points, of which 126 bp were derived from a more proximal (5') portion of SSX2 The 3 bp immediately 5' to the fusion point could not be assigned to either SYT or SSX2 and may represent an insertion-deletion or a cryptic splicing event. This fragment maintains the reading frame of the chimeric product and encodes a predicted protein larger by 43 amino acids, which nevertheless replaces the region homologous to the transcriptional repression domain Kruppel-associated box, recently recognized in the 5' portion of the SSX genes, with all but the 3' end of the SYT transcript. Thus, a diagnosis of SS may be confirmed in > 90% of cases using RT-PCR detection of the chimeric transcript resulting from the t(X;18), and the incidence of molecular variants appears low.

Published
1995

16. Shellfish consumption and awareness of risk of acquiring hepatitis A among Neapolitan families - Italy, 1997,Consumo di frutti di mare e conoscenza del rischio di epatite A. Napoli, 1997

Author

Avallone, A., Agresti, M., Biancolilli, V. S., Bova, C., Barbato, M., Coppola, T., Carandente, V., Caiazzo, A. L., Castiello, R., Ciccozzi, M., D Agostino, M. T., Crescenzo, C., Campora, E., D Antonio, G., Episodio, M., Ferrara, M. A., Ferrari, L., Lopreiato, A. S., Loré, M., Lonardo, F., Marra, A., Maffeo, A., Macchia, M. C., Prudente, M. E., Pontieri, V., Panico, M. G., Primiano, F., Pecoraro, A., Parrella, R., Porfido, F. A., Russo, B., Sardelli, P., Saggese Tozzi, A., Binkin, N., Cafaro, L., Capozzi, G., D Argenio, P., Stefano, F., Fabbrocini, G., Greco, D., Manfredi Selvaggi, T., Mele, A., Parlato, A., Giuseppe Salamina, and Santonastasi, F.

18. erbB-2 autophosphorylation is required for mitogenic action and high-affinity substrate coupling

Author

Oreste Segatto, Lonardo, F., Helin, K., Wexler, D., Fazioli, F., Rhee, S. G., and Di Fiore, P. P.

Subjects
ErbB Receptors, Receptor, ErbB-2, Proto-Oncogene Proteins, Recombinant Fusion Proteins, Molecular Sequence Data, Mutation, Amino Acid Sequence, Phosphorylation, Protein-Tyrosine Kinases, Growth Substances, Cell Line, Signal Transduction
Abstract

Autophosphorylation of gp185erbB-2 in vivo is confined to its carboxy terminus and is required for optimal erbB-2 transforming activity under conditions of receptor overexpression. It remains unresolved, however, to what extent autophosphorylation regulates erbB-2 mitogenic signaling in normal cells, nor is the biochemical basis for such a regulatory function known. To address these issues, we utilized a chimeric molecule encompassing the extracellular domain of the epidermal growth factor (EGF) receptor (EGFR) fused to the transmembrane and intracellular domains of the erbB-2 product. In this EGFR/erbB-2 chimera, erbB-2 kinase activity is regulated by EGF binding. An EGFR/erbB-2 mutant bearing multiple Tyr----Phe substitutions at erbB-2 autophosphorylation sites (EGFR/erbB-2 5P) displayed markedly reduced phosphotyrosine content following EGF stimulation in comparison with the non-mutated chimera. When expressed in NR6 cells, the EGFR/erbB-2 5P mutant was unable to deliver a sizeable mitogenic signal when activated by EGF at physiological levels. In intact cells, the 5P mutant was still able to stimulate phosphorylation of the gamma isozyme of phospholipase C (PLC-gamma), a prototype erbB-2 substrate, although with a delayed time course, indicating that the 5P mutation decreased the affinity of the erbB-2 kinase for this substrate. This conclusion was further supported by the inability of the 5P mutant to associate with PLC-gamma in co-immunoprecipitation experiments. We infer that a major role of autophosphorylation is to increase the affinity of the erbB-2 kinase for its cellular substrates, so that, under physiological conditions, autophosphorylation is absolutely required for erbB-2 mitogenic signaling.

19. Diritto all'oblio

Author

Carolina Perlingieri, A. Alpini, V. Barba, G. Biscontini, E. Briganti, E. Capobianco, G. Carapezza Figlia G. Chiappetta, N. Cipriani, O. Clarizia, L. Corsaro, M.V. Cozzi, C. Crea F. Criscuolo, P. D’Addino, M. D’Ambrosio, P. D’Amico, A. Di Amato, S. Di Amato R. Di Raimo, V. Donato, C. Donisi, R. Favale, A. Federico, P. Femia, L. Ferroni A. Flamini, M. Galli, M. Imbrenda, F. Lazzarelli, G. Lisella, O. Lombardi L. Lonardo, F. Maisto, A. Malomo, D. Mantucci, G. Marinaro, E. Migliaccio E. Minervini, R. Mongillo, F. Nappi, A.C. Nazzaro, R. Pane, M. Pennasilico C. Perlingieri, G. Perlingieri, S. Polidori, I. Prisco, F. Prosperi, G. Recinto, V. Rizzo G. Romano, L. Rossi Carleo, F. Ruscello, T.V. Russo, F. Sbordone, P. Stanzione A. Tartaglia Polcini, G. Tatarano, B. Troisi, L. Tullio, M.A. Urciuoli D. Valentino, F. Volpe, G. Zarra, P. Perlingieri, and Perlingieri, Carolina

Published
2021

20. Diritti della personalità ed enti collettivi

Author

PERLINGIERI, CAROLINA, A. Alpini, V. Barba, G. Biscontini, E. Briganti, E. Capobianco, G. Carapezza Figlia G. Chiappetta, N. Cipriani, O. Clarizia, L. Corsaro, M.V. Cozzi, C. Crea F. Criscuolo, P. D’Addino, M. D’Ambrosio, P. D’Amico, A. Di Amato, S. Di Amato R. Di Raimo, V. Donato, C. Donisi, R. Favale, A. Federico, P. Femia, L. Ferroni A. Flamini, M. Galli, M. Imbrenda, F. Lazzarelli, G. Lisella, O. Lombardi L. Lonardo, F. Maisto, A. Malomo, D. Mantucci, G. Marinaro, E. Migliaccio E. Minervini, R. Mongillo, F. Nappi, A.C. Nazzaro, R. Pane, M. Pennasilico C. Perlingieri, G. Perlingieri, S. Polidori, I. Prisco, F. Prosperi, G. Recinto, V. Rizzo G. Romano, L. Rossi Carleo, F. Ruscello, T.V. Russo, F. Sbordone, P. Stanzione A. Tartaglia Polcini, G. Tatarano, B. Troisi, L. Tullio, M.A. Urciuoli D. Valentino, F. Volpe, G. Zarra, P. Perlingieri, Perlingieri, Carolina, and Pietro Perlingieri

Subjects
diritti, persona, enti, enti non riconosciuti
Abstract

diritti della personalità ed enti non riconosciuti

Published
2021

21. La refertazione

Author

Niola Massimo, Di Lorenzo Pierpaolo, Claudia Casella, Di Meglio A, Casella C, Di Lorenzo P, Di Meglio L, Di Meglio L, Fontana P, Lonardo F, Mazzarelli LL, Niola M, Sica C, Lettieri A, Riccardi C, Ruffo G, Sica G, Toscano P, Battaglia V., Di Meglio Aniello, Niola, Massimo, DI LORENZO, Pierpaolo, and Casella, Claudia

Published
2021

22. Residenza, domicilio e dimora

Author

Carolina Perlingieri, A. Alpini, V. Barba, G. Biscontini, E. Briganti, E. Capobianco, G. Carapezza Figlia G. Chiappetta, N. Cipriani, O. Clarizia, L. Corsaro, M.V. Cozzi, C. Crea F. Criscuolo, P. D’Addino, M. D’Ambrosio, P. D’Amico, A. Di Amato, S. Di Amato R. Di Raimo, V. Donato, C. Donisi, R. Favale, A. Federico, P. Femia, L. Ferroni A. Flamini, M. Galli, M. Imbrenda, F. Lazzarelli, G. Lisella, O. Lombardi L. Lonardo, F. Maisto, A. Malomo, D. Mantucci, G. Marinaro, E. Migliaccio E. Minervini, R. Mongillo, F. Nappi, A.C. Nazzaro, R. Pane, M. Pennasilico C. Perlingieri, G. Perlingieri, S. Polidori, I. Prisco, F. Prosperi, G. Recinto, V. Rizzo G. Romano, L. Rossi Carleo, F. Ruscello, T.V. Russo, F. Sbordone, P. Stanzione A. Tartaglia Polcini, G. Tatarano, B. Troisi, L. Tullio, M.A. Urciuoli D. Valentino, F. Volpe, G. Zarra, P. Perlingieri, and Perlingieri, Carolina

Published
2021

23. Nascita ed esistenza

Author

Carolina Perlingieri, A. Alpini, V. Barba, G. Biscontini, E. Briganti, E. Capobianco, G. Carapezza Figlia G. Chiappetta, N. Cipriani, O. Clarizia, L. Corsaro, M.V. Cozzi, C. Crea F. Criscuolo, P. D’Addino, M. D’Ambrosio, P. D’Amico, A. Di Amato, S. Di Amato R. Di Raimo, V. Donato, C. Donisi, R. Favale, A. Federico, P. Femia, L. Ferroni A. Flamini, M. Galli, M. Imbrenda, F. Lazzarelli, G. Lisella, O. Lombardi L. Lonardo, F. Maisto, A. Malomo, D. Mantucci, G. Marinaro, E. Migliaccio E. Minervini, R. Mongillo, F. Nappi, A.C. Nazzaro, R. Pane, M. Pennasilico C. Perlingieri, G. Perlingieri, S. Polidori, I. Prisco, F. Prosperi, G. Recinto, V. Rizzo G. Romano, L. Rossi Carleo, F. Ruscello, T.V. Russo, F. Sbordone, P. Stanzione A. Tartaglia Polcini, G. Tatarano, B. Troisi, L. Tullio, M.A. Urciuoli D. Valentino, F. Volpe, G. Zarra, P. Perlingieri, and Perlingieri, Carolina

Published
2021

24. Nozione di matrimonio e sistema matrimoniale italiano

Author

Carolina Perlingieri, A. Alpini, V. Barba, G. Biscontini, E. Briganti, E. Capobianco, G. Carapezza Figlia G. Chiappetta, N. Cipriani, O. Clarizia, L. Corsaro, M.V. Cozzi, C. Crea F. Criscuolo, P. D’Addino, M. D’Ambrosio, P. D’Amico, A. Di Amato, S. Di Amato R. Di Raimo, V. Donato, C. Donisi, R. Favale, A. Federico, P. Femia, L. Ferroni A. Flamini, M. Galli, M. Imbrenda, F. Lazzarelli, G. Lisella, O. Lombardi L. Lonardo, F. Maisto, A. Malomo, D. Mantucci, G. Marinaro, E. Migliaccio E. Minervini, R. Mongillo, F. Nappi, A.C. Nazzaro, R. Pane, M. Pennasilico C. Perlingieri, G. Perlingieri, S. Polidori, I. Prisco, F. Prosperi, G. Recinto, V. Rizzo G. Romano, L. Rossi Carleo, F. Ruscello, T.V. Russo, F. Sbordone, P. Stanzione A. Tartaglia Polcini, G. Tatarano, B. Troisi, L. Tullio, M.A. Urciuoli D. Valentino, F. Volpe, G. Zarra, P. Perlingieri, and Perlingieri, Carolina

Published
2021

25. Il dubbio: riconoscimento o accuratezza diagnostica

Author

Niola Massimo, Di Lorenzo Pierpaolo, Claudia Casella, Di Meglio A, Casella C, Di Lorenzo P, Di Meglio L, Di Meglio L, Fontana P, Lonardo F, Mazzarelli LL, Niola M, Sica C, Lettieri A, Riccardi C, Ruffo G, Sica G, Toscano P, Battaglia V., Di Meglio A, Niola, Massimo, DI LORENZO, Pierpaolo, and Casella, Claudia

Published
2021

26. La giurisdizione ecclesiastica e gli accertamenti del giudice statale in materia di matrimonio concordatario

Author

Carolina Perlingieri, A. Alpini, V. Barba, G. Biscontini, E. Briganti, E. Capobianco, G. Carapezza Figlia G. Chiappetta, N. Cipriani, O. Clarizia, L. Corsaro, M.V. Cozzi, C. Crea F. Criscuolo, P. D’Addino, M. D’Ambrosio, P. D’Amico, A. Di Amato, S. Di Amato R. Di Raimo, V. Donato, C. Donisi, R. Favale, A. Federico, P. Femia, L. Ferroni A. Flamini, M. Galli, M. Imbrenda, F. Lazzarelli, G. Lisella, O. Lombardi L. Lonardo, F. Maisto, A. Malomo, D. Mantucci, G. Marinaro, E. Migliaccio E. Minervini, R. Mongillo, F. Nappi, A.C. Nazzaro, R. Pane, M. Pennasilico C. Perlingieri, G. Perlingieri, S. Polidori, I. Prisco, F. Prosperi, G. Recinto, V. Rizzo G. Romano, L. Rossi Carleo, F. Ruscello, T.V. Russo, F. Sbordone, P. Stanzione A. Tartaglia Polcini, G. Tatarano, B. Troisi, L. Tullio, M.A. Urciuoli D. Valentino, F. Volpe, G. Zarra, P. Perlingieri, and Perlingieri, Carolina

Published
2021

27. Modi acquisto della proprietà a titolo originario

Author

Carolina Perlingieri, A. Alpini, V. Barba, G. Biscontini, E. Briganti, E. Capobianco, G. Carapezza Figlia G. Chiappetta, N. Cipriani, O. Clarizia, L. Corsaro, M.V. Cozzi, C. Crea F. Criscuolo, P. D’Addino, M. D’Ambrosio, P. D’Amico, A. Di Amato, S. Di Amato R. Di Raimo, V. Donato, C. Donisi, R. Favale, A. Federico, P. Femia, L. Ferroni A. Flamini, M. Galli, M. Imbrenda, F. Lazzarelli, G. Lisella, O. Lombardi L. Lonardo, F. Maisto, A. Malomo, D. Mantucci, G. Marinaro, E. Migliaccio E. Minervini, R. Mongillo, F. Nappi, A.C. Nazzaro, R. Pane, M. Pennasilico C. Perlingieri, G. Perlingieri, S. Polidori, I. Prisco, F. Prosperi, G. Recinto, V. Rizzo G. Romano, L. Rossi Carleo, F. Ruscello, T.V. Russo, F. Sbordone, P. Stanzione A. Tartaglia Polcini, G. Tatarano, B. Troisi, L. Tullio, M.A. Urciuoli D. Valentino, F. Volpe, G. Zarra, P. Perlingieri, and Perlingieri, Carolina

Published
2021

28. Capacità giuridica. Soggettività. Personalità

Author

Carolina Perlingieri, A. Alpini, V. Barba, G. Biscontini, E. Briganti, E. Capobianco, G. Carapezza Figlia G. Chiappetta, N. Cipriani, O. Clarizia, L. Corsaro, M.V. Cozzi, C. Crea F. Criscuolo, P. D’Addino, M. D’Ambrosio, P. D’Amico, A. Di Amato, S. Di Amato R. Di Raimo, V. Donato, C. Donisi, R. Favale, A. Federico, P. Femia, L. Ferroni A. Flamini, M. Galli, M. Imbrenda, F. Lazzarelli, G. Lisella, O. Lombardi L. Lonardo, F. Maisto, A. Malomo, D. Mantucci, G. Marinaro, E. Migliaccio E. Minervini, R. Mongillo, F. Nappi, A.C. Nazzaro, R. Pane, M. Pennasilico C. Perlingieri, G. Perlingieri, S. Polidori, I. Prisco, F. Prosperi, G. Recinto, V. Rizzo G. Romano, L. Rossi Carleo, F. Ruscello, T.V. Russo, F. Sbordone, P. Stanzione A. Tartaglia Polcini, G. Tatarano, B. Troisi, L. Tullio, M.A. Urciuoli D. Valentino, F. Volpe, G. Zarra, P. Perlingieri, and Perlingieri, Carolina

Published
2021

29. Riservatezza e banche dati

Author

Carolina Perlingieri, A. Alpini, V. Barba, G. Biscontini, E. Briganti, E. Capobianco, G. Carapezza Figlia G. Chiappetta, N. Cipriani, O. Clarizia, L. Corsaro, M.V. Cozzi, C. Crea F. Criscuolo, P. D’Addino, M. D’Ambrosio, P. D’Amico, A. Di Amato, S. Di Amato R. Di Raimo, V. Donato, C. Donisi, R. Favale, A. Federico, P. Femia, L. Ferroni A. Flamini, M. Galli, M. Imbrenda, F. Lazzarelli, G. Lisella, O. Lombardi L. Lonardo, F. Maisto, A. Malomo, D. Mantucci, G. Marinaro, E. Migliaccio E. Minervini, R. Mongillo, F. Nappi, A.C. Nazzaro, R. Pane, M. Pennasilico C. Perlingieri, G. Perlingieri, S. Polidori, I. Prisco, F. Prosperi, G. Recinto, V. Rizzo G. Romano, L. Rossi Carleo, F. Ruscello, T.V. Russo, F. Sbordone, P. Stanzione A. Tartaglia Polcini, G. Tatarano, B. Troisi, L. Tullio, M.A. Urciuoli D. Valentino, F. Volpe, G. Zarra, P. Perlingieri, and Perlingieri, Carolina

Published
2021

30. Aspetti medico legali nella diagnostica ecografica di osteopatologia fetale

Author

Niola Massimo, Di Lorenzo Pierpaolo, Claudia Casella, Di Meglio A, Casella C, Di Lorenzo P, Di Meglio L, Di Meglio L, Fontana P, Lonardo F, Mazzarelli LL, Niola M, Sica C, Lettieri A, Riccardi C, Ruffo G, Sica G, Toscano P, Battaglia V., Aniello Di Meglio, Niola, Massimo, DI LORENZO, Pierpaolo, and Casella, Claudia

Published
2021

31. Incapacità d'intendere o di volere

Author

Carolina Perlingieri, A. Alpini, V. Barba, G. Biscontini, E. Briganti, E. Capobianco, G. Carapezza Figlia G. Chiappetta, N. Cipriani, O. Clarizia, L. Corsaro, M.V. Cozzi, C. Crea F. Criscuolo, P. D’Addino, M. D’Ambrosio, P. D’Amico, A. Di Amato, S. Di Amato R. Di Raimo, V. Donato, C. Donisi, R. Favale, A. Federico, P. Femia, L. Ferroni A. Flamini, M. Galli, M. Imbrenda, F. Lazzarelli, G. Lisella, O. Lombardi L. Lonardo, F. Maisto, A. Malomo, D. Mantucci, G. Marinaro, E. Migliaccio E. Minervini, R. Mongillo, F. Nappi, A.C. Nazzaro, R. Pane, M. Pennasilico C. Perlingieri, G. Perlingieri, S. Polidori, I. Prisco, F. Prosperi, G. Recinto, V. Rizzo G. Romano, L. Rossi Carleo, F. Ruscello, T.V. Russo, F. Sbordone, P. Stanzione A. Tartaglia Polcini, G. Tatarano, B. Troisi, L. Tullio, M.A. Urciuoli D. Valentino, F. Volpe, G. Zarra, P. Perlingieri, and Perlingieri, Carolina

Published
2021

32. Minore età: dalla potestà dei genitori alla responsabilità genitoriale

Author

Carolina Perlingieri, A. Alpini, V. Barba, G. Biscontini, E. Briganti, E. Capobianco, G. Carapezza Figlia G. Chiappetta, N. Cipriani, O. Clarizia, L. Corsaro, M.V. Cozzi, C. Crea F. Criscuolo, P. D’Addino, M. D’Ambrosio, P. D’Amico, A. Di Amato, S. Di Amato R. Di Raimo, V. Donato, C. Donisi, R. Favale, A. Federico, P. Femia, L. Ferroni A. Flamini, M. Galli, M. Imbrenda, F. Lazzarelli, G. Lisella, O. Lombardi L. Lonardo, F. Maisto, A. Malomo, D. Mantucci, G. Marinaro, E. Migliaccio E. Minervini, R. Mongillo, F. Nappi, A.C. Nazzaro, R. Pane, M. Pennasilico C. Perlingieri, G. Perlingieri, S. Polidori, I. Prisco, F. Prosperi, G. Recinto, V. Rizzo G. Romano, L. Rossi Carleo, F. Ruscello, T.V. Russo, F. Sbordone, P. Stanzione A. Tartaglia Polcini, G. Tatarano, B. Troisi, L. Tullio, M.A. Urciuoli D. Valentino, F. Volpe, G. Zarra, P. Perlingieri, and Perlingieri, Carolina

Published
2021

33. Diritto alla riservatezza

Author

Carolina Perlingieri, A. Alpini, V. Barba, G. Biscontini, E. Briganti, E. Capobianco, G. Carapezza Figlia G. Chiappetta, N. Cipriani, O. Clarizia, L. Corsaro, M.V. Cozzi, C. Crea F. Criscuolo, P. D’Addino, M. D’Ambrosio, P. D’Amico, A. Di Amato, S. Di Amato R. Di Raimo, V. Donato, C. Donisi, R. Favale, A. Federico, P. Femia, L. Ferroni A. Flamini, M. Galli, M. Imbrenda, F. Lazzarelli, G. Lisella, O. Lombardi L. Lonardo, F. Maisto, A. Malomo, D. Mantucci, G. Marinaro, E. Migliaccio E. Minervini, R. Mongillo, F. Nappi, A.C. Nazzaro, R. Pane, M. Pennasilico C. Perlingieri, G. Perlingieri, S. Polidori, I. Prisco, F. Prosperi, G. Recinto, V. Rizzo G. Romano, L. Rossi Carleo, F. Ruscello, T.V. Russo, F. Sbordone, P. Stanzione A. Tartaglia Polcini, G. Tatarano, B. Troisi, L. Tullio, M.A. Urciuoli D. Valentino, F. Volpe, G. Zarra, P. Perlingieri, and Perlingieri, Carolina

Published
2021

34. Genotype-phenotype correlations in recessive titinopathies

Author

Marco Savarese, Olivera Casar-Borota, Nuria Muelas, Claudio Bruno, Anna Sarkozy, Guja Astrea, Christoffer Ehrstedt, Marika Pane, Ricardo Rojas-García, Rita Barresi, Thierry Kuntzer, Jordi Díaz-Manera, Fortunato Lonardo, Bjarne Udd, Mridul Johari, Alessandro Malandrini, Juan J. Vílchez, Eugenio Mercuri, Francesco Muntoni, Sushan Luo, Giorgio Tasca, Ana Ferreiro, C. Julien, Mark M. Davis, Heidi Fodstad, Annalaura Torella, Salla Välipakka, Amets Sáenz, Vincenzo Nigro, Manu Jokela, Adolfo López de Munain, Emily C. Oates, Anna Vihola, Peter Hackman, Chiara Fiorillo, Isabel Illa, Filippo M. Santorelli, Talha Qureshi, H. Luque, Philippe Petiot, Chong Bo Zhao, University of Helsinki, Folkhälsan Research Center, Faculty of Medecine [Helsinki], University of Helsinki-University of Helsinki, Fimlab Laboratories [Tampere, Finland], School of Biotechnology and Biomolecular Sciences, University of New South Wales [Sydney] (UNSW), Translational and Clinical Research Institute, Newcastle University, IRCCS Istituto Giannina Gaslini [Genoa, Italy], Fondazione 'Policlinico Universitario A. Gemelli' [Rome], Tampere University Hospital, MRC Centre for Neuromuscular Diseases, University College of London [London] (UCL), Huashan Hospital [Shangai], CIBER de Enfermedades Raras (CIBERER), Uppsala University, Biodonostia Health Research Institute, Lausanne University Hospital, Service d'Explorations Fonctionnelles Respiratoires, Groupement Hospitalier Nord, Hôpital de la Croix-Rousse (Hospices Civiles de Lyon), Lyon, France, parent, Università degli studi della Campania 'Luigi Vanvitelli', IRCCS Fondazione Stella Maris [Pisa], Institut de Myologie, Centre National de la Recherche Scientifique (CNRS)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Association française contre les myopathies (AFM-Téléthon)-Sorbonne Université (SU), Unité de Biologie Fonctionnelle et Adaptative (BFA (UMR_8251 / U1133)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Paris (UP), Università degli Studi di Siena = University of Siena (UNISI), Uppsala University Hospital, QEII Medical Centre, Helsingin yliopisto = Helsingfors universitet = University of Helsinki, Helsingin yliopisto = Helsingfors universitet = University of Helsinki-Helsingin yliopisto = Helsingfors universitet = University of Helsinki, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Università degli studi della Campania 'Luigi Vanvitelli' = University of the Study of Campania Luigi Vanvitelli, Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), Savarese, M., Vihola, A., Oates, E. C., Barresi, R., Fiorillo, C., Tasca, G., Jokela, M., Sarkozy, A., Luo, S., Diaz-Manera, J., Ehrstedt, C., Rojas-Garcia, R., Saenz, A., Muelas, N., Lonardo, F., Fodstad, H., Qureshi, T., Johari, M., Valipakka, S., Luque, H., Petiot, P., de Munain, A. L., Pane, M., Mercuri, E., Torella, A., Nigro, V., Astrea, G., Santorelli, F. M., Bruno, C., Kuntzer, T., Illa, I., Vilchez, J. J., Julien, C., Ferreiro, A., Malandrini, A., Zhao, C. -B., Casar-Borota, O., Davis, M., Muntoni, F., Hackman, P., and Udd, B.

Subjects
[SDV]Life Sciences [q-bio], VARIANT, MYOPATHY, 0302 clinical medicine, Genotype, congenital myopathy, Medicine, Missense mutation, Connectin, C-TERMINAL TITIN, Child, Genetics (clinical), Genetics, 0303 health sciences, arthrogryposi, Genetic disorder, High-Throughput Nucleotide Sequencing, musculoskeletal system, Hypotonia, 3. Good health, Phenotype, Cohort, Muscle Hypotonia, medicine.symptom, Cohort study, EXPRESSION, TTN, Nonsense mutation, LINE, skeletal muscle disorders, SEQUENCE, arthrogryposis, 03 medical and health sciences, skeletal muscle disorder, cardiomyopathy, titin, Humans, TRUNCATING MUTATIONS, Genetic Association Studies, 030304 developmental biology, TIBIAL MUSCULAR-DYSTROPHY, business.industry, medicine.disease, Congenital myopathy, GENE, arthrogryposis, cardiomyopathy, congenital myopathy, skeletal muscle disorders, titin, Mutation, business, 030217 neurology & neurosurgery
Abstract

International audience; Purpose High throughput sequencing analysis has facilitated the rapid analysis of the entire titin (TTN) coding sequence. This has resulted in the identification of a growing number of recessive titinopathy patients. The aim of this study was to (1) characterize the causative genetic variants and clinical features of the largest cohort of recessive titinopathy patients reported to date and (2) to evaluate genotype-phenotype correlations in this cohort. Methods We analyzed clinical and genetic data in a cohort of patients with biallelic pathogenic or likely pathogenicTTNvariants. The cohort included both previously reported cases (100 patients from 81 unrelated families) and unreported cases (23 patients from 20 unrelated families). Results Overall, 132 causative variants were identified in cohort members. More than half of the cases had hypotonia at birth or muscle weakness and a delayed motor development within the first 12 months of life (congenital myopathy) with causative variants located along the entire gene. The remaining patients had a distal or proximal phenotype and a childhood or later (noncongenital) onset. All noncongenital cases had at least one pathogenic variant in one of the final threeTTNexons (362-364). Conclusion Our findings suggest a novel association between the location of nonsense variants and the clinical severity of the disease.

Published
2020
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35. Mucopolysaccharidosis type II in a female patient with a reciprocal X;9 translocation and skewed X chromosome inactivation

Author

Fabio Acquaviva, Francesca Scarano, Cristina Cuoco, Susanna Lualdi, Paola Di Natale, Grazia Di Gregorio, Fortunato Lonardo, Luigi Michele Pavone, Mirella Filocamo, Gioacchino Scarano, Marianna Maioli, Lonardo, F, Di Natale, P, Lualdi, S, Acquaviva, F, Cuoco, C, Scarano, F, Maioli, M, Pavone, LUIGI MICHELE, Di Gregorio, G, Filocamo, M, and Scarano, G.

Subjects
Genetics, Iduronate-2-sulfatase, Chromosomal translocation, Hunter syndrome, Iduronate Sulfatase, Biology, medicine.disease, Molecular biology, X-inactivation, Translocation, Genetic, Phenotype, X Chromosome Inactivation, Mutation, medicine, Humans, Female, Mucopolysaccharidosis type II, Allele, Child, Skewed X-inactivation, Genetics (clinical), X chromosome, Alleles, Mucopolysaccharidosis II
Abstract

Mucopolysaccharidosis type II (MPS II or Hunter syndrome) is a rare X-linked disorder caused by deficient activity of the lysosomal enzyme, iduronate-2-sulfatase (IDS). Phenotypic expression of MPS II in female patients rarely occurs and may be the result of (i) structural abnormalities of the X chromosome, (ii) homozygosity for disease-causing mutations, or (iii) skewed X-chromosome inactivation, in which the normal IDS allele is preferentially inactivated and the abnormal IDS allele is active. We report here on a female patient with clinical MPS II manifestations, deficiency of IDS enzyme activity and a de novo balanced reciprocal X;9 translocation. As our patient has a skewed XCI pattern, but neither genomic IDS mutations nor abnormal IDS transcripts were detected, we speculate about the possible role of the chromosomal rearrangement in reducing the IDS translation efficiency.

Published
2014

36. Documento informatico, firme elettroniche e atto pubblico informatico

Author

Carolina Perlingieri, Pietro Perlingieri, Perlingieri, Carolina, A. Alpini, V. Barba, G. Biscontini, E. Briganti, E. Capobianco, G. Carapezza Figlia G. Chiappetta, N. Cipriani, O. Clarizia, L. Corsaro, M.V. Cozzi, C. Crea F. Criscuolo, P. D’Addino, M. D’Ambrosio, P. D’Amico, A. Di Amato, S. Di Amato R. Di Raimo, V. Donato, C. Donisi, R. Favale, A. Federico, P. Femia, L. Ferroni A. Flamini, M. Galli, M. Imbrenda, F. Lazzarelli, G. Lisella, O. Lombardi L. Lonardo, F. Maisto, A. Malomo, D. Mantucci, G. Marinaro, E. Migliaccio E. Minervini, R. Mongillo, F. Nappi, A.C. Nazzaro, R. Pane, M. Pennasilico C. Perlingieri, G. Perlingieri, S. Polidori, I. Prisco, F. Prosperi, G. Recinto, V. Rizzo G. Romano, L. Rossi Carleo, F. Ruscello, T.V. Russo, F. Sbordone, P. Stanzione A. Tartaglia Polcini, G. Tatarano, B. Troisi, L. Tullio, M.A. Urciuoli D. Valentino, F. Volpe, G. Zarra, and P. Perlingieri

Abstract

Documento informatico e firme elettroniche Valore probatorio. problematica dell'atto pubblico informatico.

Published
2014

37. Prenatal ultrasound diagnosis of a case of Pfeiffer syndrome without cloverleaf skull and review of the literature

Author

Arturo Di Blasi, Giuseppe De Placido, Giovanni Nazzaro, Gioacchino Scarano, Maurizia Baldi, A. Nazzaro, Fortunato Lonardo, Maria Baffico, Matteo Della Monica, Nazzaro, A, Della Monica, M, Lonardo, F, Di Blasi, A, Baffico, M, Baldi, M, Nazzaro, G, DE PLACIDO, Giuseppe, and Scarano, G.

Subjects
musculoskeletal diseases, Adult, Male, medicine.medical_specialty, Prenatal diagnosis, Polymerase Chain Reaction, Ultrasonography, Prenatal, Craniosynostosis, Diagnosis, Differential, Pregnancy, medicine, Missense mutation, Humans, Hypertelorism, Receptor, Fibroblast Growth Factor, Type 2, Genetics (clinical), business.industry, Fibroblast growth factor receptor 2, Skull, Cloverleaf skull, Obstetrics and Gynecology, Dysostosis, Receptor Protein-Tyrosine Kinases, Abortion, Induced, Anatomy, DNA, Acrocephalosyndactylia, medicine.disease, Receptors, Fibroblast Growth Factor, body regions, Radiography, Pregnancy Trimester, Second, Pfeiffer syndrome, Female, Radiology, medicine.symptom, business
Abstract

Pfeiffer syndrome is characterized by bilateral coronal craniosynostosis, midface hypoplasia, beaked nasal tip, broad and medially deviated thumbs and great toes. Originally, it was described in eight persons from three generations in a pedigree consistent with an autosomal dominant transmission. Since then, several reports have documented its high clinical and genetic heterogeneity. The condition is usually detected in the newborn period or later, and very few prenatal ultrasound diagnoses have been reported. We present a case of Pfeiffer syndrome prenatally diagnosed at 20 weeks' gestation, in which the sonographic features of craniosynostosis, hypertelorism associated with an extreme proptosis, and broad thumb led to the diagnosis, confirmed after termination of pregnancy by dysmorphological, pathological and radiological evaluation. DNA analysis of the fibroblast growth factor receptor 2 (FGFR2) showed a missense mutation consisting in a transversion G --> C at nucleotide 870. This led to a Trp290Cys amino acidic substitution. We discuss the relevant findings of our and previously published cases. Our report demonstrates that a careful sonographic examination can lead to an early prenatal diagnosis of Pfeiffer syndrome also in cases without cloverleaf skull.

Published
2004

38. A family with X-linked recessive fusion of metacarpals IV and V

Author

Gioacchino Scarano, Fortunato Lonardo, Giovanni Riccardi, Vincenzo Riccio, Ilaria Riccio, Matteo Della Monica, Lonardo, F., DELLA MONICA, M., Riccardi, Giovanni, Riccio, Ilaria, and Riccio, V.

Subjects
Male, Adolescent, Genes, Recessive, Biology, Metacarpal bones, X-linked inheritance, medicine, Humans, Genetics (clinical), X chromosome, X-linked recessive inheritance, Genetics, Hand deformity, Fusion, Chromosomes, Human, X, Hand malformation, Genetic Diseases, X-Linked, Metacarpal synostosis, Synostosis, medicine.disease, Pedigree, Metacarpal synostosi, Ulnar deviation, Metacarpal 4-5 fusion, Metacarpus, Hand Deformities, Congenital
Abstract

We describe a family with a distinctive malformation of the hand consisting of the fusion of the 4th and the 5th metacarpal bones. Usually this anomaly is clinically recognizable by an ulnar deviation of the 5th finger; moreover, the 5th metacarpal is usually hypoplastic and the 5th ray is consequently short. There is, however, great variability in expression, so the degree of fusion may range from minimal to complete and also the external aspect of the hand may vary. This anomaly can be either isolated or part of a syndrome. For the isolated form, two possible hereditary mechanisms have been proposed: autosomal dominant and X-linked recessive. Our family is consistent with the latter, with only affected males and no instances of male-to-male transmission. Of note, there are very few X-linked recessive disorders that affect the hand in a such a specific way. © 2003 Wiley-Liss, Inc. We describe a family with a distinctive malformation of the hand consisting of the fusion of the 4th and the 5th metacarpal bones. Usually this anomaly is clinically recognizable by an ulnar deviation of the 5th finger, moreover, the 5th metacarpal is usually hypoplastic and the 5th ray is consequently short. There is, however, great variability in expression, so the degree of fusion may range from minimal to complete and also the external aspect of the hand may vary. This anomaly can be either isolated or part of a syndrome. For the isolated form, two possible hereditary mechanisms have been proposed: autosomal dominant and X-linked recessive. Our family is consistent with the latter, with only affected males and no instances of male-to-male transmission. Of note, there are very few X-linked recessive disorders that affect the hand in a such a specific way. (C) 2003 Wiley-Liss, Inc.

Published
2004

39. Report of three cases with tricho-rhino-phalangeal syndrome type I (two cases) and type II (one case)

Author

M. Della Bruna, Fortunato Lonardo, V. Ventruto, M. Stabile, Pietro Strisciuglio, M. Della Monica, O. Ametrano, Stabile, M, Ametrano, O, Della Bruna, M, Della Monica, M, Lonardo, F, and Strisciuglio, Pietro

Subjects
Male, Pathology, medicine.medical_specialty, Syndrome type, business.industry, Chromosome, Karyotype, medicine.disease, Radiography, Type (biology), Child, Preschool, Karyotyping, Medicine, Tricho–rhino–phalangeal syndrome, Humans, Radiology, Nuclear Medicine and imaging, Female, business, Child, Exostoses, Multiple Hereditary, Chromosomes, Human, Pair 8
Abstract

SUMMARY Phenotypical and radiologic features of two unrelated patients with the syndrome Tricho- Rhino-Phalangeal syndrome type I (TRP I) and one with the syndrome TRP I1 are reported. All three cases were sporadic and the parents were non-consanguineous. The interstitial deletion of the chromosome 8q, evaluated on pro-. metaphases chromosomes, was not observed in any of the patients.

Published
1988

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