In the last two decades, the introduction of tandem mass spectrometry in clinical laboratories has enabled simultaneous testing of numerous acylcarnitines and amino acids from dried blood spots for ...detecting many aminoacidopathies, organic acidurias and fatty acid oxidation disorders. The expanded newborn screening was introduced in Slovenia in September 2018. Seventeen metabolic diseases have been added to the pre-existing screening panel for congenital hypothyroidism and phenylketonuria, and the newborn screening program was substantially reorganized and upgraded.
Tandem mass spectrometry was used for the screening of dried blood spot samples. Next-generation sequencing was introduced for confirmatory testing. Existing heterogeneous hospital information systems were connected to the same laboratory information system to allow barcode identification of samples, creating reports, and providing information necessary for interpreting the results.
In t he first y ear of t he expanded newborn screening a total of 15,064 samples w ere screened. Four patients were confirmed positive with additional testing.
An expanded newborn screening program was successfully implemented with the first patients diagnosed before severe clinical consequences.
Pediatrična endokrinologija je začela s svojim neodvisnim razvojem zgodaj v splošnem razvoju te specilanosti, z izrazitim poudarkom na raziskovalnemu delu in klinični odličnosti. Slovenska ...pediatrična endokrinologija je bila že od začetkov evropske pediatrične endokrinologije njen sestavni del, še posebej kot soustanoviteljica prve mednarodne skupine ‘International Study Group for Diabetes in Children and Adolescents’. Po pionirskem delu prof. dr. Leva Matajca je prof. dr. Ciril Kržišnik KO za endokrinologijo, diabetes in bolezni presnove Pediatrične klinike v Ljubljani trdno vpel v mednarodno znanstveno skupnost. V zadnjem desetletju KO sodeluje pri vrhunskem raziskovalnem delu in zagotavlja klinično oskrbo po najvišjih mednarodnih standardih.
Paediatric endocrinology started its independent development early in the general development of this specialty, with a strong focus on research and clinical excellence. Slovenian paediatric ...endocrinology was an integral part of the European paediatric endocrinology from its beginnings and a founding member of the first ‘International Study Group for Diabetes in Children and Adolescents’. After the pioneering work of Prof. Lev Matajc, Prof. Ciril Kržišnik firmly integrated the Department of Pediatric Endocrinology, Diabetes and Metabolic Diseases at the University Children’s Hospital in Ljubljana in the international scientific community. In the last decade, the department participates in cutting-edge research and provides clinical services at highest international standards.
Pediatrična endokrinologija je začela s svojim neodvisnim razvojem zgodaj v splošnem razvoju te specilanosti, z izrazitim poudarkom na raziskovalnemu delu in klinični odličnosti. Slovenska pediatrična endokrinologija je bila že od začetkov evropske pediatrične endokrinologije njen sestavni del, še posebej kot soustanoviteljica prve mednarodne skupine ‘International Study Group for Diabetes in Children and Adolescents’. Po pionirskem delu prof. dr. Leva Matajca je prof. dr. Ciril Kržišnik KO za endokrinologijo, diabetes in bolezni presnove Pediatrične klinike v Ljubljani trdno vpel v mednarodno znanstveno skupnost. V zadnjem desetletju KO sodeluje pri vrhunskem raziskovalnem delu in zagotavlja klinično oskrbo po najvišjih mednarodnih standardih.