{"id":414,"date":"2022-02-08T13:54:12","date_gmt":"2022-02-08T12:54:12","guid":{"rendered":"https:\/\/ern-ithaca.eu\/?post_type=expert-centers&p=414"},"modified":"2022-04-04T15:31:55","modified_gmt":"2022-04-04T13:31:55","slug":"ern-ithaca-debrecen-center","status":"publish","type":"expert-centers","link":"https:\/\/ern-ithaca.eu\/it\/about-us\/expert-centers\/ern-ithaca-debrecen-center\/","title":{"rendered":"ERN-ITHACA \u2013 Centro di Debrecen"},"content":{"rendered":"
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\"\"<\/figure>\n<\/figure>\n\n\n\n

University of Debrecen, Clinical Center, Pediatrics Clinic<\/strong>
Nagyerdei Circuit 98
4032 Debrecen
HUNGARY<\/p>\n\n\n\n

\n
Sito web<\/a><\/div>\n<\/div>\n\n\n\n
<\/div>\n\n\n\n

Piombo<\/h2>\n\n\n\n
\"\"<\/figure>\n\n\n\n

Dr. Katalin<\/strong><\/strong> Szakszon<\/strong><\/strong><\/p>\n\n\n\n

Telefono<\/strong>: +3652 411 717 (Ext. No. 56884 or +3652 255 335)<\/p>\n\n\n\n

Fax<\/strong>: +3652 255 446<\/p>\n\n\n\n

eMail<\/strong>: szakszon.katalin@med.unideb.hu<\/p>\n\n\n\n

<\/div>\n\n\n\n

Ambito di applicazione<\/h2>\n\n\n\n

L\u2019area di competenza del nostro Centro, in qualit\u00e0 di membro della Rete di Riferimento Europea (ERN) ITHACA, copre tutte le sindromi caratterizzate da anomalie dello sviluppo e\/o disabilit\u00e0 intellettiva (DI). Circa 1 neonato su 40 presenta una malformazione congenita (261 su 10.000 feti e neonati secondo i dati EuroCAt) e 1 su 40 presenta una disabilit\u00e0 intellettiva. Pertanto, da 3 a 5 % di tutte le nascite umane presentano o svilupperanno un\u2019anomalia dello sviluppo, tra cui almeno 25-50% sono di origine genetica o genomica. Questa vasta popolazione rappresenta in realt\u00e0 la giustapposizione di un numero molto elevato di disturbi, singolarmente rari, che presentano un\u2019estrema diversit\u00e0 di cause e fenotipi. La competenza e l\u2019ambito di specializzazione di questo Centro ITHACA comprendono:<\/p>\n\n\n\n

  • oltre 5.500 sindromi dismorfiche e di anomalie congenite multiple (MCA) (elencate nel London Dysmorphology Database), tra cui oltre 3.000 malattie monogeniche, tutte le anomalie cromosomiche (la maggior parte delle quali rilevabili solo tramite tecnologie di array), anomalie dismorfologiche multifattoriali e sporadiche ed embriopatie di origine ambientale<\/li>
  • >1.500 forme monogeniche e centinaia di forme cromosomiche di ritardo mentale, con o senza disturbo dello spettro autistico (ASD) associato<\/li><\/ul>\n\n\n\n
    <\/div>\n\n\n\n

    Assistenza ai pazienti<\/h2>\n\n\n\n

    The University of Debrecen, Clinical Center, Pediatrics Clinic (also named Institute of Pediatrics, as part of the Faculty of Medicine) operates a Clinical Genetics Outpatient Care Unit where patients with a suspected genetic disorder (patients with multiple congenital malformations, intellectual deficit, developmental delay, pervasive developmental disorder, neurodegenerative or suspected metabolic disease) and their families seek diagnosis and genetic counselling. Our clinic is responsible for the genetic care of patients from four counties of Hungary (Hajd\u00fa-Bihar, Szabolcs-Szatm\u00e1r-Bereg, Borsod-Aba\u00faj-Zempl\u00e9n, J\u00e1sz- Nagykun-Szolnok), in addition, several patients come from over the borders (Transsylvania and the Ukraine).<\/p>\n\n\n\n

    Dr. Katalin Szakszon, M.D., Ph.D. is the leading expert of this unit, she is clinical geneticist and paediatrician, responsible for the postnatal genetic diagnosis, recurrence risk assessment, possible therapy, prognostic evaluation, pre- and post-diagnosis management of the affected patients and families. Dr. Katalin Szakszon\u2019s main expertise is multiple congenital malformations with intellectual deficit, but rare intellectual disability syndromes and rare neurometabolic disorders are also in her field of interest and knowledge.<\/p>\n\n\n\n

    The clinical, cytogenetic and molecular genetic diagnosis of patients is achieved with the support of a multidisciplinary team, including experts of paediatric neurology, cardiology, endocrinology, psychology, anaesthesiology, surgery, audiology, radiology, rehabilitation and experts in cyto- and molecular cytogenetics, molecular genetics and general laboratory medicine. A strong collaboration with international experts in foreign countries has also been built.<\/p>\n\n\n\n

    The Clinical Genetics Outpatient Care Unit cares for a yearly 525 paediatric patients and further ca. 125 adult patients (affected or cascade-testing), consultation hours are held 5 days a week, consultation for inpatients of other wards are also provided, such as Neonatology, Intensive Care, Infant Unit, etc\u2026<\/p>\n\n\n\n

    The University of Debrecen, Clinical Center has an accredited (DIN EN ISO 9001:2015, G\u00fcteZert GmbH) Laboratory Medicine Institute with 12 diagnostic units (clinical chemistry, immunochemistry, laboratory immunology, endocrinology, hematology and urinalysis, hemostasis, flow cytometry, molecular genetics, molecular oncology, cytogenetics, separation techniques, andrology).<\/p>\n\n\n\n

    <\/div>\n\n\n\n

    Organizzazione del Centro<\/h2>\n\n\n\n

    In the Clinical Center of University of Debrecen more than 6000 health care workers, including 1544 doctors and 4073 health care professionals take care of patients. The Center provides patient care on 2,700 beds, in 346 outpatient clinics, 35 care facilities, nearly 40 dental services and 60 diagnostics units. The multi-faceted nature of patient care is well illustrated by the fact that in terms of inpatient care specialized care is provided in nearly 61, while in terms of outpatient care and diagnostic services, in close to 91 professions.  <\/p>\n\n\n\n

    In parallel with the development of medicine, the aim of the Clinical Center is to continuously expand the scope of its activities, within this, it gives priority to high-quality patient information.<\/p>\n\n\n\n

    Employees of the University of Debrecen participated in all of the Hungarian Guidelines (ca. 80 Guidelines in the last 5 years) and in some international ones. The University of Debrecen Clinical Center has implemented and applies a quality management system which complies with the requirements of the DIN EN ISO 9001:2015 standards. The G\u00fcteZert Certificate is valid until 06.12.2023<\/p>\n\n\n\n

     We collaborate closely with patient organizations and other genetic centers to provide national and international guidelines on best practice and clinical care for rare, hereditary disorders and preconceptional and prenatal genetic testing.<\/p>","protected":false},"featured_media":0,"template":"","tags":[],"country":[57],"center-status":[15],"class_list":["post-414","expert-centers","type-expert-centers","status-publish","hentry","country-hungary","center-status-full-member"],"acf":{"name-city":"Debrecen Center","representative":"Dr Katalin Szakszon","latitude":"47.531605 ","longitude":"21.627312","keywords-search":""},"yoast_head":"\nERN-ITHACA \u2013 Debrecen Center - ERN ITHACA<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/ern-ithaca.eu\/it\/about-us\/expert-centers\/ern-ithaca-debrecen-center\/\" \/>\n<meta property=\"og:locale\" content=\"it_IT\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"ERN-ITHACA \u2013 Debrecen Center - ERN ITHACA\" \/>\n<meta property=\"og:description\" content=\"University of Debrecen, Clinical Center, Pediatrics ClinicNagyerdei Circuit 984032 DebrecenHUNGARY Lead Dr. Katalin Szakszon Telephone: +3652 411 717 (Ext. 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