20 research outputs found
Flunssaisen vauvan uloshengitys vinkuu - mistä taudista on kyse?
Bronkioliitti on viruksen aiheuttama pienten hengitysteiden tulehdussairaus, joka johtaa ensimmäiseen uloshengitysvaikeuskohtaukseen tiukan määritelmän mukaisesti alle 6 kuukauden ikäisellä ja laajan määritelmän mukaisesti alle 2-vuotiaalla lapsella. RSV-bronkioliitti ja ”rinovirus-atopiavinkuna” ovat erilaiset sairaudet, joiden riskitekijät, patogeneesi, taudinkulku, hoito ja ennuste eroavat toisistaan
Kansallinen suositus lasten pitkäaikaisesta hengitystukihoidosta
Suositus lapsen vaativan hengitystukihoidon järjestämisestä laadittiin yhtenäistämään käytäntöjä.</p
NHLRC2 variants identified in patients with fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA) : characterisation of a novel cerebropulmonary disease
A novel multi-organ disease that is fatal in early childhood was identified in three patients from two non-consanguineous families. These children were born asymptomatic but at the age of 2 months they manifested progressive multi-organ symptoms resembling no previously known disease. The main clinical features included progressive cerebropulmonary symptoms, malabsorption, progressive growth failure, recurrent infections, chronic haemolytic anaemia and transient liver dysfunction. In the affected children, neuropathology revealed increased angiomatosis-like leptomeningeal, cortical and superficial white matter vascularisation and congestion, vacuolar degeneration and myelin loss in white matter, as well as neuronal degeneration. Interstitial fibrosis and previously undescribed granuloma-like lesions were observed in the lungs. Hepatomegaly, steatosis and collagen accumulation were detected in the liver. A whole-exome sequencing of the two unrelated families with the affected children revealed the transmission of two heterozygous variants in the NHL repeat-containing protein 2 (NHLRC2); an amino acid substitution p.Asp148Tyr and a frameshift 2-bp deletion p.Arg201GlyfsTer6. NHLRC2 is highly conserved and expressed in multiple organs and its function is unknown. It contains a thioredoxin-like domain; however, an insulin turbidity assay on human recombinant NHLRC2 showed no thioredoxin activity. In patient-derived fibroblasts, NHLRC2 levels were low, and only p.Asp148Tyr was expressed. Therefore, the allele with the frameshift deletion is likely non-functional. Development of the Nhlrc2 null mouse strain stalled before the morula stage. Morpholino knockdown of nhlrc2 in zebrafish embryos affected the integrity of cells in the midbrain region. This is the first description of a fatal, early-onset disease; we have named it FINCA disease based on the combination of pathological features that include fibrosis, neurodegeneration, and cerebral angiomatosis.Peer reviewe
Environment and atopy and asthma in childhood:the effect of dietary fats, common infections and asthma treatment practises on morbidity rates
Abstract
Despite the common recommendations of the criteria for the diagnosis of asthma there is still a wide variation within different regions in diagnoses, use of medications and hospitalisation rates especially among young children. This thesis elucidates the role of spesified environmental risk factors associated with the development of atopic diseases in childhood.
In two prospective follow-up surveys we found that allergies and asthma associate with the consumption of margarines, butter and fish and that the common infection of childhood, RS-virus infection, does not increase asthma morbidity in adolescence. In a randomised set-up we were able to verify that the common childhood infections do not protect from allergies and asthma. In a retrospective survey we found that hospitalisation rates can reflect medication practices in different regions.
Our results indicate that consumption of fat in the diet can be one triggering factor for allergies but common childhood infections are merely markers of susceptibility to allergies and asthma rather than the cause of it
Adult but no pediatric anaphylaxis-related deaths in the Finnish population from 1996 to 2013
Non peer reviewe