{"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\/fr\/about-us\/expert-centers\/ern-ithaca-debrecen-center\/","title":{"rendered":"ERN-ITHACA \u2013 Debrecen Center"},"content":{"rendered":"
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University of Debrecen, Clinical Center, Pediatrics Clinic<\/strong>
Nagyerdei Circuit 98
4032 Debrecen
HUNGARY<\/p>\n\n\n\n

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

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

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

T\u00e9l\u00e9phone<\/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

e-mail<\/strong>: szakszon.katalin@med.unideb.hu<\/p>\n\n\n\n

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

Champ d'application<\/h2>\n\n\n\n

En tant que membre du R\u00e9seau europ\u00e9en de r\u00e9f\u00e9rence (ERN) ITHACA, notre centre est sp\u00e9cialis\u00e9 dans tous les syndromes se caract\u00e9risant par des anomalies du d\u00e9veloppement et\/ou une d\u00e9ficience intellectuelle (DI). Environ 1 nouveau-n\u00e9 sur 40 pr\u00e9sente une malformation cong\u00e9nitale (261 pour 10 000 f\u0153tus et nouveau-n\u00e9s selon les rapports EuroCAt), et 1 sur 40 est atteint de d\u00e9ficience intellectuelle. Par cons\u00e9quent, 3 \u00e0 5 % de toutes les naissances humaines pr\u00e9sentent ou d\u00e9velopperont une anomalie du d\u00e9veloppement, parmi lesquelles au moins 25 \u00e0 50 % sont d\u2019origine g\u00e9n\u00e9tique ou g\u00e9nomique. Cette population consid\u00e9rable repr\u00e9sente en r\u00e9alit\u00e9 la juxtaposition d\u2019un tr\u00e8s grand nombre de troubles individuellement rares pr\u00e9sentant une extr\u00eame diversit\u00e9 de causes et de ph\u00e9notypes. Le champ d\u2019action et le p\u00e9rim\u00e8tre d\u2019expertise de ce centre ITHACA comprennent :<\/p>\n\n\n\n

  • plus de 5 500 syndromes dysmorphiques et anomalies cong\u00e9nitales multiples (MCA) (r\u00e9pertori\u00e9s dans la base de donn\u00e9es de dysmorphologie de Londres), parmi lesquels plus de 3 000 maladies monog\u00e9niques, toutes les anomalies chromosomiques (dont la plupart ne sont d\u00e9tectables que gr\u00e2ce aux technologies de puces \u00e0 ADN), des anomalies dysmorphologiques multifactorielles et sporadiques, ainsi que des embryof\u00e9topathies d\u2019origine environnementale<\/li>
  • >1 500 formes monog\u00e9niques et plusieurs centaines de formes chromosomiques de d\u00e9ficience intellectuelle, associ\u00e9es ou non \u00e0 un trouble du spectre autistique (TSA)<\/li><\/ul>\n\n\n\n
    <\/div>\n\n\n\n

    Service aux patients<\/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

    Organisation du Centre<\/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\/fr\/about-us\/expert-centers\/ern-ithaca-debrecen-center\/\" \/>\n<meta property=\"og:locale\" content=\"fr_FR\" \/>\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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