Clinical Scoring Systems in Predicting Health-Related Quality of Life of Children with Injuries

The aim of the study was to explore the association between Glasgow Coma Scale (GCS), Paediatric Index ofMortality (PIM2) and Injury Severity Score (ISS), and the long-term outcome of children with injuries. The health related quality of life (HRQL) was assessed by using the Royal Alexandra Hospital for children Measure of Function (RAHC MOF), 12 months post discharge. Out of 118 children with injuries (9% of all patients), 75 had injury of the head as the leading injury. There were no significant differences at admission in the severity of clinical condition, as expressed by PIM2 and ISS, between patients with head injuries and patients with other injured leading body regions. Children with head injuries had significantly worse HRQOL than children with other leading injured body region (p<0.045), and children from road traffic accidents had significantly worse HRQL (p=0.004), compared to other mechanisms of injury. HRQL correlated significantly with GCS (p=0.027), but not with ISS and PIM2. As the conclusion, among all scoring systems applied, only GCS, which demonstrates severity of head injury, showed significant impact on long-term outcome of injured children

ANALIZA ARTERIJSKE ELASTIČNOSTI NA UZORKU OPĆE POPULACIJE I U BOLESNIKA S OPSTRUKCIJSKOM APNEJOM TIJEKOM SPAVANJA

Arterijska elastičnost neovisan je pokazatelj kardiovaskularnog rizika koji se lako mjeri neinvazivnim metodama. U uzorku opće populacije (n=1012) napravili smo usporedbu podudarnosti pokazatelja arterijske elastičnosti izmjerenih metodama tonometrije i oscilometrije. Analizirani su augmentacijski indeksi i centralni tlakovi. Unatoč dobroj inicijalnoj korelaciji među uređajima SphygmoCor (tonometrija) i Arteriograph (oscilometrija), grafičkom usporedbom rezultata augmentacijskog indeksa prikazali smo neravnomjerno odstupanje od pravca podudarnosti. Detaljnom analizom podataka utvrdili smo da uređaji nisu međusobno zamjenjivi jer na njih različito utječu odrednice arterijske elastičnosti, pretežito dobi. Nadalje, ispitana je primjenjivost normativnih formula za centralni augmentacijski indeks (cAIx) izvedenih iz danske populacije niskog kardiovaskularnog rizika koristeći odgovarajuću hrvatsku populaciju iz mediteranskog područja. Raspodjela stvarno izmjerenog cAIx-a, dobi i predviđenih vrijednosti cAIx-a hrvatske populacije bila je visoko usporediva sa danskim uzorkom. Međutim, predviđene vrijednosti dobivene pomoću normativnih formula pokazuju poprilično velike raspone u interindividualnim vrijednostima, te stoga nisu jednako primjenjive za sve dobne skupine. Dizajniranjem za uže dobne skupine, poboljšala bi se osjetljivost formula u otkrivanju rizičnih vaskularnih fenotipova, smanjilo utjecaj neujednačene dobne distribucije između populacija te uopće olakšala interpopulacijska usporedba. Naposljetku smo, na odabranoj skupini bolesnika (n=38) sa opstrukcijskom apnejom tijekom spavanja pratili dugoročne promjene arterijske elastičnosti primjenom terapije adaptivnim pozitivnim tlakom zraka u trajanju od godine dana. Rezultat je značajno sniženje brzine pulsnog vala i centralnog sistoličkog tlaka u usporedbi s početnim vrijednostima, s najvećim poboljšanjem postignutim tijekom prvih 6 mjeseci terapije.Arterial stiffness is an independent predictor of cardivascular risk easily assesed with non-invasive methods. In a general population sample (n=1012) we compared the agreement of arterial stiffness indices measured by the methods of tonometry and oscillometry. Augmentation index and central systolic pressure were analysed. Despite a good inital corelation between the devices (SphygmoCor – tonometry and Arteriograph – oscilometry), a graphic comparison of the augmentation index reaveald an uneven deviation from the referent line of agreement. A detailed analisys of this finding confirmed the devices as not interchangeble because they seem to be differently influenced by predictors of arterial stiffness, predominately by age. Secondly, examined was aplicability of normative equations for central augmentation index (cAIx) derived from Danish population with low cardiovascular risk on the corresponding Croatian population from the Mediterranean area. Both, cAIx-age distribution and normative equation fitted on Croatian data were highly comparable to Danish sample. However, the equations do not equally hold true across age ranges and tolerate rather wide range of individual variability in cAIx values. If designed for narrower age groups, the equations' sensitivity in detecting vascular phenotypes at risk could be improved, the impact of difference in sampling frame largely reduced and applicability on different populations facilitated. Finally, on a selected cohort of obstructive sleep apnea patients (n=38) we evaluated effects of a long term adaptive positive air presseure therapy on arterial stiffness during one year follow-up. Relative to the inital values a significant reduction in pulse wave velocity and central systolic pressure was observed. Majority of the effects occured during the first 6 months of therapy

Atypical presentation of thrombosis of a permanent pacemaker lead

Pacemaker related infective endocarditis (PMIE) and pacemaker lead thrombosis (PMLT) are infrequent but potentially lethal complications of pacemaker (PM) therapy. Differences in clinical presentation, echocardiographic appearance and laboratory findings are usually helpful in making a confident diagnosis. On the other hand, atypical clinical and echocardiographic findings may complicate their differentiation and result in a therapeutic dilemma. We present a 70-year-old man with a permanent PM hospitalized because of a 7-day history of fever and weakness. Elevated inflammatory parameters and atypical echocardiographic findings resulted in a diagnostic dilemma between PMIE and PMLT. In this paper, we discuss the pathogenesis of these entities, their clinical presentation and therapy

Predictive Value of 8 Genetic Loci for Serum Uric Acid Concentration

Aim. To investigate the value of genomic information in prediction of individual serum uric acid concentrations. ----- Methods. Three population samples were investigated: from isolated Adriatic island communities of Vis (n=980) and Korcula (n=944), and from general population of the city of Split (n=507). Serum uric acid concentration was correlated with the genetic risk score based on 8 previously described genes: PDZK1, GCKR, SLC2A9, ABCG2, LRRC16A, SLC17A1, SLC16A9, and SLC22A12, represented by a total of 16 single-nucleotide polymorphisms (SNP). The data were analyzed using classification and regression tree (CART) and general linear modeling. ----- Results. The most important variables for uric acid prediction with CART were genetic risk score in men and age in women. The percent of variance for any single SNP in predicting serum uric acid concentration varied from 0.0%-2.0%. The use of genetic risk score explained 0.1%-2.5% of uric acid variance in men and 3.9%-4.9% in women. The highest percent of variance was obtained when age, sex, and genetic risk score were used as predictors, with a total of 30.9% of variance in pooled analysis. ----- Conclusion. Despite overall low percent of explained variance, uric acid seems to be among the most predictive human quantitative traits based on the currently available SNP information. The use of genetic risk scores is a valuable approach in genetic epidemiology and increases the predictability of human quantitative traits based on genomic information compared with single SNP approach

Association of Nephrolithiasis and Gene for Glucose Transporter Type 9 (SLC2A9): Study of 145 Patients

Aim To investigate the association of nephrolithiasis and solute carrier family 2, facilitated glucose transporter, member 9 (SLC2A9), also known as glucose transporter type 9, Glut9. Methods A total of 145 participants were recruited in the period April-October 2008 from the Department of Mineral Research of the Medical School Osijek, Osijek, Croatia; 58 (40%) had confirmed nephrolithiasis and 87 (60%) were asymptomatic. Four single nucleotide polymorphisms (SNP) from the SLC2A9 gene were genotyped in both groups (rs733175, rs6449213, rs1014290, and rs737267). Results There was a weak but significant association of all 4 SNPs and nephrolithiasis (P = 0.029 for rs733175; P = 0.006 for rs6449213; P = 0.020 for rs1014290, and P = 0.011 for rs737267). Logistic regression in an age- and sex-adjusted model suggested that genotype C/T for rs6449213 had odds ratio for nephrolithiasis of 2.89 (95% confidence interval 1.13-7.40). This SNP explained a total of 4.4% of nephrolithiasis variance. Conclusion Development of nephrolithiasis may be associated with SLC2A9 gene. Further studies are needed to clarify the role of SLC2A9 gene as a link between uric acid and nephrolithiasis

Genome-wide Association Study of Biochemical Traits in Korčula Island, Croatia

Aim To identify genetic variants underlying biochemical traits – total cholesterol, low-density lipoprotein (LDL) cholesterol, high-density lipoprotein (HDL) cholesterol, triglycerides, uric acid, albumin, and fibrinogen, in a genomewide association study in an isolated population where rare variants of larger effect may be more easily identified. Methods The study included 944 adult inhabitants of the island of Korčula, as a part of larger DNA-based genetic epidemiological study in 2007. Biochemical measurements were performed in a single laboratory with stringent internal and external quality control procedures. Examinees were genotyped using Human Hap370CNV chip by Illumina, with a genome-wide scan containing 346 027 single nucleotide polymorphisms (SNP). Results A total of 31 SNPs were associated with 7 investigated traits at the level of P < 1.00 × 10−5. Nine of SNPs implicated the role of SLC2A9 in uric acid regulation (P = 4.10 × 10−6-2.58 × 10−12), as previously found in other populations. All 22 remaining associations fell into the P = 1.00 × 10−5-1.00 × 10−6 significance range.. One of them replicated the association between cholesteryl ester transfer protein (CETP) and HDL, and 7 associations were more than 100 kilobases away from the closest known gene. Nearby SNPs, rs4767631 and rs10444502, in gene kinase suppressor of ras 2 (KSR2) on chromosome 12 were associated with LDL cholesterol levels, and rs10444502 in the same gene with total cholesterol levels. Similarly, rs2839619 in gene PBX/knotted 1 homeobox 1 (PKNOX1) on chromosome 21 was associated with total and LDL cholesterol levels. The remaining 9 findings implied possible associations between phosphatidylethanolamine N-methyltransferase (PEMT) gene and total cholesterol; USP46, RAP1GDS1, and ZCCHC16 genes and triglycerides; BCAT1 and SLC14A2 genes and albumin; and NR3C2, GRIK2, and PCSK2 genes and fibrinogen. Conclusion Although this study was underpowered for most of the reported associations to reach formal threshold of genome-wide significance under the assumption of independent multiple testing, replications of previous findings and consistency of association between the identified variants and more than one studied trait make such findings interesting for further functional follow-up studies. Changed allele frequencies in isolate population may contribute to identifying variants that would not be easily identified in much larger samples in outbred populations