Dermatologists actions for health care. in Italy
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- Aubrey Casey
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1 Dermatologists actions for health care On a therapeutical level: Creation of networks: National registries Collaboration with research and genetics laboratories Assistance On a social level in Italy
2 National Registries Gianluca Tadini Centro Malatie Cutanee Ereditarie Istituto di Scienze Dermatologiche Università di Milano Update of the national registry on hereditary epidermolysis bullosa National registry of ectodermal dysplasia
3 Italian registries Epidermolysis Bullosa : : April 2009: 58 Total: 880 Ectodermal Dysplasia: % confirmed by molecular diagnosis
4 Italian registry (880 patients) Dr. Gianluca Tadini Type Frequency % Epidermolytic EB Junctional EB Dermolytic EB Unlisted EB 16 No percentage
5 Kleijer WJ, Laugel V, Berneburg M, Nardo T., Fawcett H, Gratchev A, Jaspers NGJ, Sarasin A, Stefanini M, Lehmann AR (2008) DNA Repair, 7: Incidence of DNA repair deficiency disorders in Western-Europe: Xeroderma pigmentosum, Cockayne syndrome and Trichothiodystrophy Incidence in Western Europe was for the first time established at 2.3 per million live-births for XP
6 Distribution in time of xeroderma pigmentosum patients living and diagnosed in Italy Years of birth Total Number of patients Autochthonic Non-autochthonic <
7 Xeroderma pigmentosum: frequency of the NER defective complementation groups Group XP-A XP-B XP-C XP-D XP-E XP-F XP-G XP-variant Italy* 17% - 43% 10% 27% 3% % West-Europe** 15.7% % 11.2% 2.2% 4.5% 5.6% 10.6% * 30 cases ** 89 cases, including the Italian patients
8 Assistance, diagnosis and research network Active and close collaboration since 2000 and a convention in 2004 with the Istituto Dermopatico dell Immacolata (IDI) of Rome to provide a global assistance to patients without having them to move from a Centre to another Convention in July 2008 with the University of Modena to practice the gene therapy at Bambino Gesù Hospital Convention with DebRA Italia in 2004
9 Multidisciplinary Assistance Ospedale Pediatrico Bambino Gesù Multidisciplinary care of Ichtyosis, Epidermolysis Bullosa, NF and ST children Case-manager
10 NF multidisciplinary assistance Case-manager: Cristina Digilio Genetics department Pediatric Hospital Bambino Gesù, Rome 20 patients/month
11 NF 1 protocole Involved specialists Dermatologist (A) Ophtalmologist (A) Neurologist (A) Psychologist (A) Neurosurgeon Surgeon Plastic surgeon Orthopaedic (A) ORL (A) Endocrinologist Cardiologist (A)
12 NF 1 protocole Other parameters Abdominal ultrasound Blood and urine test Urinary Vanillyl Mandelic Acide Measure of blood pressure
13 Inherited Epidermolysis Bullosa Multidisciplinary/therapeutical care: Ospedale Pediatrico Bambino Gesù, Rome Case-manager: dermatologist
14 Multidisciplinary care Neonatal period Later organs complications: Infection Nutrition Oesophagus stenosis Dentition Anaesthesia Organ surgery: pylorus stenosis, hands, etc
15 EB patients followed in dermatology Day hospital
16 Hospitalized EB patients in 2008 Intensive care 3 Dermatology 19 Paediatrics 4 Digestive surgery 8 Digestive surgery 2 General surgery 1 Infectiuos diseases 5 Neurology 1 Genetics 1 Plastic surgery 1 Total 9 Total 36
17 Hospitalization of EBE patients at the OPBG 362 admissions 154 Day hospital 208 hospitalizations Reasons For main diagnosis and disease treatment For a second diagnosis Involved departments: 15 elachem@opbg.net
18 Inherited Epidermolysis Bullosa Training of specialists Ospedale Pediatrico Bambino Gesù, Rome Continuous collaboration between dermatologists and other specialists to illustrate on the job the specificity of these diseases and avoid the side complications: Team work
19 Formation
20 Social Activities The organisation s efficient support to the patients: Communication of the diagnosis Organisation of consultation Participation to the elaboration of specific guidelines Appeal to public authorities to improve assistance Awareness-raising in schools Holidays organisation
21 Activities Member of the Council of the Italian Federation of Rare Diseases UNIAMO Member of EURORDIS Board Projects in progress: At the Hospital with Ebby (Bambino Gesù) At the laboratory with Ebby (Università di Modena)
22
23 Convention between DebRA and the Paediatric Hospital Bambino Gesù, signed in July 2008 Project: In ospedale con Ebby Start: May 2009: Identification of the bedroom Identification of the bathtub Expected end of work: December 2009
24 Inherited Epidermolysis Bullosa Equipement (in progress) of a bedroom dedicated to hospitalized or in day hospital patients Ospedale Pediatrico Bambino Gesù, Rome
25 At the hospital with Ebby At the laboratory with Ebby: donation of euros
26 Gift from Myriam, a really brave girl, affected by a severe dystrophic EB, who has never given up on her hobby: painting! Nor on joy of life! Thank you Myriam
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