Recurrent Bleedings in Newborn: A Factor VII Deficiency Case Report

Autor: Lorenza Bonetti, Carlo Poggiani, Kim Cattivelli, Alessandro Plebani, Cristina Distefano, Sophie Testa, Simona Maria Siboni

Publikováno v: Transfusion Medicine and Hemotherapy. 45:104-106

Background: Major hemorrhages in newborns can be caused by several conditions, and knowledge of the differential diagnosis is essential in order to ensure prompt recognition and appropriate treatment. Case Report: We describe the case of a male newbo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::72396ca4540bcfd93b189b620fc07d2b
https://doi.org/10.1159/000481993

Hypercalcemia and nephrocalcinosis complicating subcutaneous fat necrosis in a newborn after therapeutic hypothermia

Autor: Elisa, Milanesi, Cristina, Loda, Bruno, Drera, Carlo, Poggiani

Publikováno v: Minerva pediatrica. 68(4)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::7e0ef0b64f7d91310bf3d3e3a93dab63
https://pubmed.ncbi.nlm.nih.gov/27277205

Disruption of the ASTN2 / TRIM32 locus at 9q33.1 is a risk factor in males for Autism Spectrum Disorders, ADHD and other neurodevelopmental phenotypes

Autor: Patricia I. Bader, Christina Chrysler, Pietro Cavalli, Mohammed Uddin, Carlo Poggiani, Noam Soreni, Andrew D. Paterson, Roberto Ciccone, Diana Postorivo, Sebastiano A. Musumeci, Lonnie Zwaigenbaum, Eli Hatchwell, Michael E. Talkowski, Sarah M. Nikkel, Paul D. Arnold, H. Melanie Bedford, Vincenzo Antona, Sylvia Lamoureux, Caroline Mackie Ogilvie, Timothy Wilks, John Wei, Eva M Tomiak, Ugo Cavallari, Marc Woodbury-Smith, Orsetta Zuffardi, Susan Walker, Bob Argiropoulos, Judy Chernos, Charu Deshpande, Jeffrey R. MacDonald, Bai-Lin Wu, Thomas Nalpathamkalam, Lone W. Laulund, Anna Maria Nardone, Gioacchino Scarano, Bridget A. Fernandez, Christian R. Marshall, John Trounce, Susan Leather, Peter Szatmari, Anath C. Lionel, Jennelle C. Hodge, Ann C White, Dimitri J. Stavropoulos, Matteo Della Monica, David S Cobb, Cassandra K. Runke, Zhuozhi Wang, Corrado Romano, Michael T. Geraghty, Leopoldo Zelante, Joo Wook Ahn, Matthew J. Gazzellone, Leonardo Zoccante, Marsha Speevak, Bhooma Thiruvahindrapuram, Russell Schachar, Jennifer L. Howe, Jill Clayton-Smith, Christina Fagerberg, R. Brian Lowry, Francesca Novara, Marco Fichera, Jill A. Rosenfeld, Charlotte Brasch-Andersen, Stephen W. Scherer, Giovanna Pellecchia, Divya Mandyam, Vamsee Pillalamarri, Yu An, Wendy Roberts, Abdul Noor, Daniel Tolson, Melissa T. Carter, Peggy S. Eis, Joyce So, Jennifer Crosbie, Massimo Carella, Ryan K. C. Yuen, Andrea K. Vaags, Mark J Sorensen, Daniele Merico, Kristiina Tammimies, Yiping Shen

Publikováno v: Lionel, A C, Tammimies, K, Vaags, A K, Rosenfeld, J A, Ahn, J W, Merico, D, Noor, A, Runke, C K, Pillalamarri, V K, Carter, M T, Gazzellone, M J, Thiruvahindrapuram, B, Fagerberg, C R, Laulund, L W, Pellecchia, G, Lamoureux, S, Deshpande, C, Clayton-Smith, J, White, A C, Leather, S, Trounce, J, Bedford, H M, Hatchwell, E, Eis, P S, Yuen, R K C, Walker, S, Uddin, M, Geraghty, M T, Nikkel, S M, Tomiak, E M, Fernandez, B A, Soreni, N, Crosbie, J, Arnold, P D, Schachar, R J, Roberts, W, Paterson, A D, So, J, Szatmari, P, Chrysler, C, Woodbury-Smith, M, Lowry, R B, Zwaigenbaum, L, Mandyam, D, Wei, J, Macdonald, J R, Howe, J L, Nalpathamkalam, T, Wang, Z, Tolson, D, Cobb, D S, Wilks, T M, Sorensen, M J, Bader, P I, An, Y, Wu, B-L, Musumeci, S A, Romano, C, Postorivo, D, Nardone, A M, Della Monica, M, Scarano, G, Zoccante, L, Novara, F, Zuffardi, O, Ciccone, R, Antona, V, Carella, M, Zelante, L, Cavalli, P, Poggiani, C, Cavallari, U, Argiropoulos, B, Chernos, J, Brasch-Andersen, C, Speevak, M, Fichera, M, Ogilvie, C M, Shen, Y, Hodge, J C, Talkowski, M E, Stavropoulos, D J, Marshall, C R & Scherer, S W 2014, ' Disruption of the ASTN2 / TRIM32 locus at 9q33.1 is a risk factor in males for Autism Spectrum Disorders, ADHD and other neurodevelopmental phenotypes ', Human Molecular Genetics, vol. 23, no. 10, ddt669, pp. 2752-2768 . https://doi.org/10.1093/hmg/ddt669
Human molecular genetics, vol 23, iss 10

Rare copy number variants (CNVs) disrupting ASTN2 or both ASTN2 and TRIM32 have been reported at 9q33.1 by genome-wide studies in a few individuals with neurodevelopmental disorders (NDDs). The vertebrate-specific astrotactins, ASTN2 and its paralog

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8bfeae936d3d7f9ee8d7af79c0056ff4
https://portal.findresearcher.sdu.dk/da/publications/d617e944-95e3-4e20-8656-8ea74a5c3ed2

Imaging of neonatal hemangiomas, two cases

Autor: A. Colombo, Carlo Poggiani, Antonella Auriemma, Cristina Bellan, Marco Somaschini

Publikováno v: European Journal of Ultrasound. 9:161-165

Hemangiomas are the most common tumor of infancy. Most hemangiomas are harmless and follow a benign clinical course and undergo regression with time. Sometimes they can destroy vital organs and become life-threatening. We report two cases of neonatal

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4279d29d0d44d8f3f37ac30241e6cfa7
https://doi.org/10.1016/s0929-8266(99)00025-7

Pulmonary hemorrhage detected by sonography in an infant treated with ECMO

Autor: A. Colombo, Antonietta Auriemma, Marco Somaschini, Carlo Poggiani

Publikováno v: European Journal of Ultrasound. 3:41-44

High resolution ultrasound was used to detect a right lower lobe pulmonary consolidation caused by a hemorrhage in a newborn infant treated with extra-corporeal membrane oxygenation (ECMO) because of congenital diaphragmatic hernia. The liver is an e

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::28a8f197a15c4e105dbec0ded6a20087
https://doi.org/10.1016/0929-8266(95)00131-x