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.
Standardna urinokultura česta je dijagnostička pretraga, no prema smjernicama se ne preporučuje u obradi nekompliciraih infekcija mokraćnog sustava, već je indicirana za bolesnike s kompliciranim ...infekcijama mokraćnog sustava, hospitalizirane bolesnike i one kod kojih empirijska antibiotska terapija nije polučila klinički odgovor. Pojava bakterijske rezistencije na antibiotike naglašava važnost urinokulture s antibiogramom kao zlatnog standarda u obradi infekcija mokraćnog sustava. Molekularne dijagnostičke metode kao što su multipleks PCR, sekvenciranje 16S RNA gena i sekvenciranje nove generacije, prikladne su za detekciju urinarnih patogena i analizu urinarnog mikrobioma, a zbog brzine i osjetljivosti nalaze svoje mjesto u kliničkoj obradi urinarnih infekcija. Cilj ovog rada je usporediti prednosti i nedostatke suvremenih metoda dijagnosticiranja infekcija mokraćnog sustava s klasičnim kultivacijskim metodama.
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