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Aim To assess the role of human platelet antigens (HPA), P-selectin gene (SELP) polymorphisms, and HPA and SELP haplotypes with factor V (FV) R506Q in ischemic pediatric stroke (IPS) subtypes: cerebral sinovenous thrombosis (CSVT), perinatal (PAIS), and childhood (CAIS) arterial ischemic stroke. Methods This case-control study enrolled 150 children with confirmed IPS and 150 age- and sex-matched controls. FV R506Q and HPA-1 were genotyped with CVD StripAssay®, HPA-2 and HPA-3 with real-time polymerase chain reaction, SELP S290N, V599L, and T715P with high resolution melting analysis, and SELP N562D with sequence-specific polymerase chain reaction.Results HPA-1b allele (odds ratio [OR] 2.75, 95% confidence interval [CI] 1.02-7.42, P = 0.048) and HPA-1a2a3b (OR 5.46, 95% CI 1.51-19.76, P = 0.011), HPA-1b2a3a (OR 7.00, 95% CI 1.25-39.13, P = 0.028), and HPA-1b2b3a (OR 11.39, 95% CI 1.39-92.95, P = 0.024) haplotypes increased the risk for CSVT. HPA-3b allele was significantly associated with 2-fold lower risk for PAIS (OR 0.49, 95% CI 0.26-0.89, P = 0.020) and CAIS (OR 0.47, 95% CI 0.26-0.86, P = 0.014) and non-significantly associated with increased risk for CSVT (OR 6.43, 95% CI 0.83-50.00, P = 0.022). HPA-1a2b3a haplotype was significantly associated with CAIS (OR 6.76, 95% CI 2.13-21.44, P = 0.001). The inclusion of FV R506Q in SELP haplotype analysis increased the risk for PAIS 4-fold in QNDVT carriers (OR 8.14, 95% CI 0.93-71.33, P = 0.060) compared with NDVT haplotype (OR 2.45, 95% CI 0.98-6.18, P = 0.058), but the result was not significant. Conclusion Individual HPAs, and particularly HPA haplotypes, are involved in IPS subtypes pathogenesis. A possible risk-inducing synergistic effect of SELP haplotypes with FV R506Q is restricted to PAIS only.

Aim To assess the role of human platelet antigens (HPA), P-selectin gene (SELP) polymorphisms, and HPA and SELP haplotypes with factor V (FV) R506Q in ischemic pediatric stroke (IPS) subtypes: cerebral sinovenous thrombosis (CSVT), perinatal (PAIS), and childhood (CAIS) arterial ischemic stroke. Methods This case-control study enrolled 150 children with confirmed IPS and 150 age- and sex-matched controls. FV R506Q and HPA-1 were genotyped with CVD StripAssay®, HPA-2 and HPA-3 with real-time polymerase chain reaction, SELP S290N, V599L, and T715P with high resolution melting analysis, and SELP N562D with sequence-specific polymerase chain reaction.Results HPA-1b allele (odds ratio [OR] 2.75, 95% confidence interval [CI] 1.02-7.42, P = 0.048) and HPA-1a2a3b (OR 5.46, 95% CI 1.51-19.76, P = 0.011), HPA-1b2a3a (OR 7.00, 95% CI 1.25-39.13, P = 0.028), and HPA-1b2b3a (OR 11.39, 95% CI 1.39-92.95, P = 0.024) haplotypes increased the risk for CSVT. HPA-3b allele was significantly associated with 2-fold lower risk for PAIS (OR 0.49, 95% CI 0.26-0.89, P = 0.020) and CAIS (OR 0.47, 95% CI 0.26-0.86, P = 0.014) and non-significantly associated with increased risk for CSVT (OR 6.43, 95% CI 0.83-50.00, P = 0.022). HPA-1a2b3a haplotype was significantly associated with CAIS (OR 6.76, 95% CI 2.13-21.44, P = 0.001). The inclusion of FV R506Q in SELP haplotype analysis increased the risk for PAIS 4-fold in QNDVT carriers (OR 8.14, 95% CI 0.93-71.33, P = 0.060) compared with NDVT haplotype (OR 2.45, 95% CI 0.98-6.18, P = 0.058), but the result was not significant. Conclusion Individual HPAs, and particularly HPA haplotypes, are involved in IPS subtypes pathogenesis. A possible risk-inducing synergistic effect of SELP haplotypes with FV R506Q is restricted to PAIS only.

The aim of the study was to assess sleep architecture and breathing in sleep in children with Down syndrome. The study was conducted by using overnight video-polysomnography (V-PSG) in children with Down syndrome and age-matched children from the general population. Analysis of polysomnographic parameters revealed that compared to the norms of healthy age- and maturitymatched children from the general population, children with Down syndrome had significantly shorter sleep latency (p=0.007), shorter total sleep time (p=0.004), lower sleep efficiency (p=0.010), less NREM1 sleep phase (p=0.0002), less NREM3 sleep phase (p=0.034), less REM sleep (p=0.034) in favour of more NREM2 phase but not significantly (p=0.069), and spent more time awake after sleep onset (p=0.0002). Children with Down syndrome had significantly more obstructive sleep apnoeas and hypopnoeas per hour (higher obstructive sleep apnoeas and hypopnoeas index) (p=0.008), but less central sleep apnoea per hour (lower central apnoeas index) (p=0.041), which led to the nonsignificantly lower total apnoea-hypopnoea index (p=0.762) in children with Down syndrome. The mean and longest apnoea duration did not differ significantly between these two groups. Children with Down syndrome had a significantly lower mean and nadir oxygen saturation (p=0.008 and p=0.001, respectively). In conclusion, the majority of respiratory complications in children with Down syndrome can be prevented by raising awareness of sleep disturbances in children with Down syndrome among their parents and health care providers and by introducing early routine V-PSG in the follow up of these children., Cilj: Istražiti arhitektoniku spavanja i disanja tijekom sna u djece s Downovim sindromom. Metode: Cjelonoćna videopolisomnografija (V-PSG) u skupini djece s Downovim sindromom i u onoj iz opće populacije odgovarajuće dobi i zrelosti. Rezultat: Analiza polisomnografskih parametara pokazala je da djeca s Downovim sindromom, u usporedbi s normativima u zdrave djece u općoj populaciji, odgovarajuće dobi i zrelosti, imaju značajno kraću latenciju spavanja (SL) p=0,007, kraće ukupno vrijeme spavanja (TST) p=0,004, nižu efikasnost spavanja (SE) p=0,010, manje NREM1 faze spavanja p=0,0002, manje NREM3 faze spavanja p=0,034, manje REM spavanja p= 0,034 (na račun više površnog NREM2 spavanja, ali ne statistički značajno, p=0,069) i da provode više vremena budni nakon započimanja spavanja (p=0,0002). Djeca s Downovim sindromom imaju značajno više opstruktivnih apneja i hipopneja po satu spavanja (viši OAHI) p=0,008, ali imaju manje centralnih apneja po satu spavanja (niži CAI) p=0,041, što pridonosi statistički neznačajno nižem ukupnom AHI-u (p=0,762) u djece s Downovim sindromom. Prosječno i najdulje trajanje apneja nije se značajno razlikovalo između dviju skupina. Djeca s Downovim sindromom su imala značajno niže i prosječne i nadir saturacije kisika (p=0,008 i p=0,001). Zaključak: Možemo prevenirati većinu respiratornih komplikacija u djece s Downovim sindromom podizanjem svjesnosti njihovih roditelja o poremećajima spavanja u te djece, ali i zdravstvenih djelatnika, te uključivanjem rutinske cjelonoćne videopolisomnografije u njihovo praćenje.

Hrvatski prijevod za: Approved IFCC recommendation on reporting results for blood glucose

Uvod: Laboratorijsko razlikovanje glomerularne i neglomerularne hema-turije godinama se uglavnom temelji na ispitivanju morfologije eritrocita u mokraći. Za razliku od eritrocita iz donjih mokraćnih puteva koji su intaktni, pravilnih oblika, glomerularni eritrociti su manji i imaju nepravilne i složene oblike. U ovom raduje ispitana mogućnost razlikovanja podrijetla hematurije protočnom citometrijom, mjerenjem parametara ovisnih o morfološkim značajkama eritrocita u mokraći nakon obilježavanja eritrocita fluorescentnim monoklonskim antitijelima na glikoforin A. Materijali i metode: Svježi uzorci mokraće od ukupno 31 bolesnika s dokazanim glomerularnim i 31 bolesnika s dokazanim urološkim bolestima analizirani su na protočnom citometru FACScan (Becton Dickinson, San Jose, SAD). Eritrociti su izdvojeni od ostalih stanica i nestaničnih elemenata u mokraći bojenjem fluorescentnim monoklonskim antitijelima na glikoforin A, a zatim su mjereni intenziteti rasapa svjetlosti u smjeru ulazne zrake (engl. forward scatter, FSC) i okomito na smjer ulazne zrake (engl. sidescatter, SSC), te je izračunat omjer SSC/FSC. FSC je bio mjera veličine, a SSC mjera oblika eritrocita. Rezultati: Nađena je statistički značajna razlika u izmjerenim vrijednostima FSC (P < 0,001), SSC (P = 0,016), kao i u omjeru SSC/FSC (P < 0,001) između dviju skupina bolesnika. Prema ROC analizi (engl. ReceiverOperating Characteristic) dobiveni su slijedeći rezultati: za FSC (granična vrijednost za glomerular-nu hematuriju FSC ≤ 49) dijagnostička osjetljivost 90,3% i specifičnost 83,9%; za SSC (granična vrijednost za glomerularnu hematuriju SSC > 73) dijagnostička osjetljivost 83,9% i specifičnost 61,3%; za omjer SSC/FSC (granična vrijednost za glomerularnu hematuriju SSC/FSC > 2,42) dijagnostička osjetljivost 83,9% i specifičnost 90,3%. Zaključak: Opisana metoda analize eritrocita protočnom citometrijom je jednostavna, automatizirana tehnika za razlikovanja podrijetla hematurije. U odnosu na metodu ispitivan, Background: Glomerular and urinary tract origins of hematuria are differentiated on the basis of urinary red cell morphology. Glomerular erythro-cytes are distorted and are smaller than erythrocytes from the lower urinary tract. In this study, we investigated the possibility of flow cytometric differentiation of the origin of hematuria using phycoerythrin-conjugated antibody against glycophorin A, by measuring parameters dependent on morphologic characteristics of urinary erythrocytes. Materials and methods: Fresh urine samples from 31 patients with glomerular disease and 31 patients with urological disease were analyzed on the flow cytometer FACScan (Becton Dickinson, San Jose, USA). Erythrocytes were distinguished from other particles with similar size in urine by staining with phycoerythrin-conjugated antibody against glycophorin A. The intensity of forward scattered light (FSC) and side scattered light (SSC) of the erythrocytes were measured as indicators of red cell size and shape, respectively. Also, the SSC/FSC ratio was calculated. Results: A statistically significant difference in FSC (P < 0.001), SSC (P = 0.016) and SSC/FSC ratio (P < 0.001) values between two groups of patients were found. According to ROC analysis (Receiver Operating Characteristic) the following results were obtained in distinguishing the origin of hematuria: for FSC (cut-off value for glomerular hematuria: FSC ≤ 49), diagnostic sensitivity 90.3% and specificity 83.9%; for SSC (cut-off value for glomerular hematuria: SSC > 73), diagnostic sensitivity 83.9% and specificity 61.3%; for SSC/FSC ratio (cut-off value for glomerular hematuria: SSC/FSC > 2.42), diagnostic sensitivity 83.9% and specificity 90.3%. Conclusion: The described flow cytometry analysis is a simple, automated method that can be used to establish distinction between glomerular and non-glomerular bleeding. Compared to the method of urinary red cell morphology examination, it yields more objective and reliable informations

Although the majority of eukaryotic proteins are glycosylated, there is a dearth of knowledge regarding protein sugar moieties and their changes in disease. Most multiple myeloma cases are characterized by production of monoclonal immunoglobulins (Ig). We studied galactosylation and sialylation of IgG heavy chains in 16 patients with IgG myeloma using lectin blotting and densitometry. In comparison to age and sex matched controls, galactosylation was reduced in multiple myeloma (median 317 vs. 362, range 153–410 vs. 309–447 relative units, p=0.015, Student’s t-test). Sialylation was stage dependent; samples from patients with stage IIA had lowest amounts of sialic acid, IIIA intermediate and IIIB highest (142.6 vs. 185.9 vs. 248.5 relative units, correlation coefficient r=0.55). Both galactosylation and sialylation levels were independent of age, sex, treatment type, response to treatment, disease duration and IgG and b2 microglobulin concentration. These data indicate that multiple myeloma is characterized by aberrant immunoglobulin glycosylation.