Hematopoetiska stamcellstransplantationer som behandlingsmetod för olika sjukdomar

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Lapsen trombosytopenia

• Trombosytopenia on yleinen löydös yleislääkärin lapsipotilaalla. • Tavallisin on immunologinen trombosytopenia. Sen ennuste on erittäin hyvä ja vakavat vuodot ovat harvinaisia. • Akuutisti sairaalla lapsella trombosytopenia voi olla oire vakavasta infektiosta tai leukemiasta. • Pysyvä perinnöllinen trombosytopenia ja sen taustalla oleva seurantaa tai hoitoa vaativa oireyhtymä on tärkeää tunnistaa.Peer reviewe

Maahanmuuttaja- taustaisen nuoren heikotus - tapauksen ratkaisu

Suomessa syntynyt 14-vuotias somalinuori tuli päivystykseen pari viikkoa jatkuneiden rintatuntemusten vuoksi. Väsymystä, heikotusta ja huimausta oli ollut pitempäänkin

Käänteishyljintä kantasolusiirroissa

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Characterization of Mixed Monolayers of Phosphatidylcholine and a Dicationic Gemini Surfactant SS-1 with a Langmuir Balance: Effects Of DNA

AbstractMonolayers of a cationic gemini surfactant, 2,3-dimethoxy-1,4-bis(N-hexadecyl-N;N-dimethyl-ammonium)butane dibromide (abbreviated as SS-1) and its mixtures with 1-palmitoyl-2-oleoyl-sn-glycero-3-phosphocholine (POPC) were studied using a Langmuir balance. More specifically, we measured the force-area (π-A) curves and determined the elastic area compressibility modulus (Cs−1) as a function of lateral packing pressure and the mole fraction of the cationic lipid (XSS-1), with and without DNA in the subphase. Both SS-1 and POPC exhibited smooth compression isotherms, indicating their monolayers to be in the liquid expanded state. Even low contents (XSS-1<0.05) of SS-1 in a POPC monolayer condensed the film dramatically, up to 20% at 30mN/m. This effect is suggested to reflect reorientation of the P−-N+ dipole of the POPC headgroup. Accordingly, the magnitude of the condensing effect diminishes with XSS-1 and is not observed for mixed films of dioleoylglycerol and SS-1. Reorientation of the P−-N+ dipole is further supported by the pronounced increase in monolayer dipole potential ψ due to SS-1. The presence of DNA in the subphase affected the mixed POPC/SS-1 monolayers differently depending on the constituent lipid stoichiometry as well as on the DNA/SS-1 charge ratio. At a DNA concentration of 0.63μM (in base pairs) condensation of neat POPC monolayers was evident, and this effect remained up to XSS-1<0.5, corresponding to DNA/SS-1 charge ratio of 1.25. An expansion due to DNA, evident as an increase in ΔA/molecule, was observed at XSS-1>0.5. At a higher concentration of DNA (1.88μM base pairs) in the subphase corresponding to DNA/SS-1 charge ratio of 3.75 at XSS-1=0.5, condensation was observed at all values of XSS-1

Pienentynyt ferritiinipitoisuus lapsella: Niukat rautavarastot ilman anemiaa

Laadukas tutkimusnäyttö puuttuu rautalisän hyödystä lapsille, joilla ei ole raudanpuuteanemiaa.Lapsia ei tulisi seuloa raudanpuutteen varalta, eikä diagnoosia tehdä yksin seerumin ferritiinipitoisuuden perusteella.Jos lapsella on raudanpuutteeseen sopivia oireita ja ferritiinipitoisuus on pienempi kuin 15 µg/l, suun kautta otettavan rautalisän voi aloittaa, mikäli lapsella ei ole raudan kertymiselle altistavaa sairautta. Hoidon vastetta tulee seurata.Lapselle suoneen annosteltavan rautalääkityksen tarpeen arvioiminen ja toteutus kuuluvat erikoissairaanhoitoon

Dynamics of Islet Autoantibodies During Prospective Follow-Up From Birth to Age 15 Years

Context: We set out to characterize the dynamics of islet autoantibodies over the first 15 years of life in children carrying genetic susceptibility to type 1 diabetes (T1D). We also assessed systematically the role of zinc transporter 8 autoantibodies (ZnT8A) in this context. Design: HLA-predisposed children (N = 1006, 53.0% boys) recruited from the general population during 1994 to 1997 were observed from birth over a median time of 14.9 years (range, 1.9-15.5 years) for ZnT8A, islet cell (ICA), insulin (IAA), glutamate decarboxylase (GADA), and islet antigen-2 (IA-2A) antibodies, and for T1D. Results: By age 15.5 years, 35 (3.5%) children had progressed to T1D. Islet autoimmunity developed in 275 (27.3%) children at a median age of 7.4 years (range, 0.3-15.1 years). The ICA seroconversion rate increased toward puberty, but the biochemically defined autoantibodies peaked at a young age. Before age 2 years, ZnT8A and IAA appeared commonly as the first autoantibody, but in the preschool years IA-2A- and especially GADA-initiated autoimmunity increased. Thereafter, GADA-positive seroconversions continued to appear steadily until ages 10 to 15 years. Inverse IAA seroconversions occurred frequently (49.3% turned negative) and marked a prolonged delay from seroconversion to diagnosis compared to persistent IAA (8.2 vs 3.4 years; P = .01). Conclusions: In HLA-predisposed children, the primary autoantibody is characteristic of age and might reflect the events driving the disease process toward clinical T1D. Autoantibody persistence affects the risk of T1D. These findings provide a framework for identifying disease subpopulations and for personalizing the efforts to predict and prevent T1D.Peer reviewe

HLA and non-HLA genes and familial predisposition to autoimmune diseases in families with a child affected by type 1 diabetes

Genetic predisposition could be assumed to be causing clustering of autoimmunity in individuals and families. We tested whether HLA and non-HLA loci associate with such clustering of autoimmunity. We included 1,745 children with type 1 diabetes from the Finnish Pediatric Diabetes Register. Data on personal or family history of autoimmune diseases were collected with a structured questionnaire and, for a subset, with a detailed search for celiac disease and autoimmune thyroid disease. Children with multiple autoimmune diseases or with multiple affected first-or second-degree relatives were identified. We analysed type 1 diabetes related HLA class II haplotypes and genotyped 41 single nucleotide polymorphisms (SNPs) outside the HLA region. The HLA-DR4-DQ8 haplotype was associated with having type 1 diabetes only whereas the HLA-DR3-DQ2 haplotype was more common in children with multiple autoimmune diseases. Children with multiple autoimmune diseases showed nominal association with RGS1 (rs2816316), and children coming from an autoimmune family with rs11711054 (CCR3-CCR5). In multivariate analyses, the overall effect of non-HLA SNPs on both phenotypes was evident, associations with RGS1 and CCR3-CCR5 region were confirmed and additional associations were implicated: NRP1, FUT2, and CD69 for children with multiple autoimmune diseases. In conclusion, HLA-DR3-DQ2 haplotype and some non-HLA SNPs contribute to the clustering of autoimmune diseases in children with type 1 diabetes and in their families.Peer reviewe