Getting it right the first time: an Irish paediatric dermatology perspective from a national care centre.

Autor: Fagan N; Department of Medicine, St James's Hospital, Dublin, Ireland., Browne F; Department of Dermatology, Children's Health Ireland at Crumlin, Dublin, Ireland.; Department of Dermatology, Children's Health Ireland at Temple Street, Dublin, Ireland., Dvorakova V; Department of Dermatology, Children's Health Ireland at Crumlin, Dublin, Ireland., Carroll Á; National Rehabilitation University Hospital, Dublin, Ireland.; University College Dublin, Dublin, Ireland., Irvine AD; Department of Dermatology, Children's Health Ireland at Crumlin, Dublin, Ireland.; Department of Clinical Medicine, Trinity College, Dublin, Ireland.

Publikováno v: Clinical and experimental dermatology [Clin Exp Dermatol] 2023 Dec 19; Vol. 49 (1), pp. 61-64.

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The VASCERN-VASCA working group diagnostic and management pathways for severe and/or rare infantile hemangiomas

Autor: Diociaiuti A, Eulalia Baselga Torres, Boon LM, Dompmartin A, Dvorakova V, El Hachem M, Gasparella P, Haxhija E, Ghaffarpour N, Kyrklund K, Irvine AD, Kapp FG, Rößler J, Salminen P, van den Bosch C, van der Vleuten C, Kool LS, Vikkula M

Publikováno v: EUROPEAN JOURNAL OF MEDICAL GENETICS
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname

The European Reference Network on Rare Multisystemic Vascular Diseases (VASCERN), is dedicated to gathering the best expertise in Europe and provide accessible cross-border healthcare to patients with rare vascular dis-eases. Infantile Hemangiomas (I

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::99e050b960a7a43a6de2842e5cf95563
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=21451

The VASCERN-VASCA Working Group Diagnostic and Management Pathways for Venous Malformations.

Autor: Dompmartin A; Dermatology Department CHU Caen Université Caen Normandie CHU Caen Côte nacre 14033 Caen Cedex, France., Baselga E; Pediatric Dermatology, Hospital Sant Joan de Deu, Barcelona, Spain; VASCERN VASCA European Reference Centre., Boon LM; Center for Vascular Anomalies, Division of Plastic Surgery, University Clinics Saint-Luc, University of Louvain, Brussels, Belgium; VASCERN VASCA European Reference Centre., Diociaiuti A; Dermatology Unit and Genodermatosis Unit, Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Piazza Sant'Onofrio 4, 00165, Rome, Italy; VASCERN VASCA European Reference Centre., Dvorakova V; Paediatric Dermatology, Children's Health Ireland; Clinical Medicine, Trinity College Dublin, Ireland; VASCERN VASCA European Reference Centre., El Hachem M; Dermatology Unit and Genodermatosis Unit, Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Piazza Sant'Onofrio 4, 00165, Rome, Italy; VASCERN VASCA European Reference Centre., Gasparella P; Department of Paediatric and Adolescent Surgery, Medical University of Graz, Graz, Austria; VASCERN VASCA European Reference Centre., Haxhija E; Department of Paediatric and Adolescent Surgery, Medical University of Graz, Graz, Austria; VASCERN VASCA European Reference Centre., Ghaffarpour N; Department of Plastic and Craniofacial Surgery Karolinska University Hospital Stockholm, Stockholm, Sweden; VASCERN VASCA European Reference Centre., Kyrklund K; Department of Pediatric Surgery, Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland; VASCERN VASCA European Reference Centre., Irvine AD; Paediatric Dermatology, Children's Health Ireland; Clinical Medicine, Trinity College Dublin, Ireland; VASCERN VASCA European Reference Centre., Kapp FG; Division of Pediatric Hematology and Oncology, Department of Pediatrics and Adolescent Medicine, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, 79106 Freiburg, Germany; VASCERN VASCA European Reference Centre., Rößler J; Division of Pediatric Hematology and Oncology, Department of Pediatrics and Adolescent Medicine, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, 79106 Freiburg, Germany; VASCERN VASCA European Reference Centre.; Division of Pediatric Hematology and Oncology, Department of Pediatrics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland., Salminen P; Department of Pediatric Surgery, HUSRare Disease Center, Helsinki University Hospital and University of Helsinki, Helsinki, Finland; VASCERN VASCA European Reference Centre., van den Bosch C; Hevas, Patient Organisation for Vascular Anomalies, Nijkerk, the Netherlands., van der Vleuten C; Department of Dermatology, Radboudumc Expertise Center for Haemangiomas and Congenital Vascular Malformations Nijmegen (Hecovan), Radboud University Medical Center, Nijmegen, the Netherlands; VASCERN VASCA European Reference Centre., Schultze Kool L; Department of Radiology, Radboudumc Expertise Center for Haemangiomas and Congenital Vascular Malformations Nijmegen (Hecovan), Radboud University Medical Center, Nijmegen, the Netherlands; VASCERN VASCA European Reference Centre., Vikkula M; Center for Vascular Anomalies, Division of Plastic Surgery, University Clinics Saint-Luc, University of Louvain, Brussels, Belgium; VASCERN VASCA European Reference Centre.; Human Molecular Genetics, de Duve Institute, University of Louvain, Brussels, Belgium.

Publikováno v: Journal of vascular anomalies [J Vasc Anom (Phila)] 2023 Mar 23; Vol. 4 (2), pp. e064. Date of Electronic Publication: 2023 Mar 23 (Print Publication: 2023).

Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants.

Autor: Mussa A; Department of Public Health and Pediatric Sciences, Università degli Studi di Torino, Torino, Italy.; Pediatric Clinical Genetics, Regina Margherita Children's Hospital, Hospital, Città della Salute e della Scienza di Torino, Torino, Italy., Leoni C; Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, Roma, Italy., Iacoviello M; Department of Biomedical Sciences and Human Oncology, Università degli Studi di Bari 'Aldo Moro', Bari, Italy., Carli D; Department of Public Health and Pediatric Sciences, Università degli Studi di Torino, Torino, Italy.; Pediatric Onco-Hematology, Stem Cell Transplantation and Cell Therapy Division, Regina Margherita Children's Hospital, Città Della Salute e Della Scienza di Torino, Torino, Italy., Ranieri C; Department of Biomedical Sciences and Human Oncology, Università degli Studi di Bari 'Aldo Moro', Bari, Italy., Pantaleo A; Department of Biomedical Sciences and Human Oncology, Università degli Studi di Bari 'Aldo Moro', Bari, Italy., Buonuomo PS; Rare Diseases and Medical Genetics Unit, Bambino Gesù Children's Hospital IRCCS, Roma, Italy., Bagnulo R; Department of Biomedical Sciences and Human Oncology, Università degli Studi di Bari 'Aldo Moro', Bari, Italy., Ferrero GB; Department of Clinical and Biological Sciences, Università degli Studi di Torino, Torino, Italy., Bartuli A; Rare Diseases and Medical Genetics Unit, Bambino Gesù Children's Hospital IRCCS, Roma, Italy., Melis D; Department of Medicine, Surgery and Dentistry 'Scuola Medica Salernitana', University of Salerno, Fisciano, Italy., Maitz S; Clinical Pediatric Genetics Unit, MBBM Foundation, San Gerardo Hospital, Monza, Italy., Loconte DC; Department of Biomedical Sciences and Human Oncology, Università degli Studi di Bari 'Aldo Moro', Bari, Italy., Turchiano A; Department of Biomedical Sciences and Human Oncology, Università degli Studi di Bari 'Aldo Moro', Bari, Italy., Piglionica M; Department of Biomedical Sciences and Human Oncology, Università degli Studi di Bari 'Aldo Moro', Bari, Italy., De Luisi A; Department of Biomedical Sciences and Human Oncology, Università degli Studi di Bari 'Aldo Moro', Bari, Italy., Susca FC; Department of Biomedical Sciences and Human Oncology, Università degli Studi di Bari 'Aldo Moro', Bari, Italy., Bukvic N; Department of Biomedical Sciences and Human Oncology, Università degli Studi di Bari 'Aldo Moro', Bari, Italy., Forleo C; Cardiology Unit, Department of Emergency and Organ Transplantation, Università degli Studi di Bari 'Aldo Moro', Bari, Italy., Selicorni A; Pediatric Department, ASST Lariana, Monza, Italy., Zampino G; Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, Roma, Italy., Onesimo R; Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, Roma, Italy., Cappuccio G; Department of Translational Medicine, Federico II University Hospital, Napoli, Italy., Garavelli L; Medical Genetics Unit, Mother and Child Health Department, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy., Novelli C; Department of Clinical Sciences and Community Health, Università degli Studi di Milano, Milano, Italy., Memo L; Department of Pediatrics, Neonatal Intensive Care Unit, San Bortolo Hospital of Vicenza, Vicenza, Italy., Morando C; Department of Pediatrics, Neonatal Intensive Care Unit, San Bortolo Hospital of Vicenza, Vicenza, Italy., Della Monica M; Medical Genetics Unit, Cardarelli Hospital, Napoli, Italy, Italy., Accadia M; Medical Genetics Unit, Hospital 'Cardinale G. Panico', Tricase, Italy., Capurso M; Department of Biomedical Sciences and Human Oncology, Università degli Studi di Bari 'Aldo Moro', Bari, Italy., Piscopo C; Medical Genetics Unit, Cardarelli Hospital, Napoli, Italy, Italy., Cereda A; Pediatric Department, ASST Papa Giovanni XXIII, Bergamo, Italy., Di Giacomo MC; Unit of Pathology and Medical Genetics, AOR Ospedale 'San Carlo', Potenza, Italy., Saletti V; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy., Spinelli AM; Regional Coordinating Center for Rare Diseases, University Hospital, Udine, Italy, Italy., Lastella P; Centro Sovraziendale di Assistenza e Ricerca per le Malattie Rare, Internal Medicine Unit 'C. Frugoni', Ospedale Consorziale Policlinico di Bari, Bari, Italy., Tenconi R; Department of Pediatrics, Clinical Genetics, Universita degli Studi di Padova, Padova, Italy., Dvorakova V; Dermatology Clinic, Our Lady's Children's Hospital Crumlin, Dublin, Ireland., Irvine AD; Dermatology Clinic, Our Lady's Children's Hospital Crumlin, Dublin, Ireland., Resta N; Department of Biomedical Sciences and Human Oncology, Università degli Studi di Bari 'Aldo Moro', Bari, Italy nicoletta.resta@uniba.it.

Publikováno v: Journal of medical genetics [J Med Genet] 2023 Feb; Vol. 60 (2), pp. 163-173. Date of Electronic Publication: 2022 Mar 07.