The text presents pathological processes, clinical picture and the course of the pediatric antiphospholipid syndrome. Diagnostic approaches and research techniques are discussed in detail, along with the current treatment recommendations. Thus firm clinical criteria for pediatric antiphospholipid syndrome were established and served as the basis for an European registry.
F.15 Development of a new information system/databases
COBISS.SI-ID: 25581785Three autosomal recessive disorders are associated with mutations in the RECQL4 gene: Rothmund-Thomson syndrome (RTS), Baller-Gerold syndrome (BGS), and RAPADILINO syndrome. We performed RECQL4 mutation detection in a patient with BGS and several clinical signs of RTS who developed a midline NK/T-cell lymphoma. The patient was compound heterozygous for two mutations in exon 15, namely c.2492_2493delAT + c.2506_2518del13bp. Only the allele with 13 bp deletion was expressed in blood leukocytes.
F.02 Acquisition of new scientific knowledge
COBISS.SI-ID: 26382041The EURODIAB study group prospectively registered data on the incidence of type 1 diabetes in childhood, calculated yearly incidences and trends in the increase in incidence. From the obtained results a trend prediction for the next 15 years was calculated for different regions in Europe.
F.16 Improvements to an existing information system/databases
COBISS.SI-ID: 26733785The paper describes clinical experience and research-based knowledge on the use of naloxone in opiate poisoning.
F.02 Acquisition of new scientific knowledge
COBISS.SI-ID: 2706545The paper describes results from clinical research evaluating the acid and non-acid gastro esophageal reflux in the etiology of the gastro esophageal reflux disease in children. The state-of the-art diagnostic procedures and treatment are presented.
B.04 Guest lecture
COBISS.SI-ID: 26677721