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Decreased platelet serotonin level is associated with fatigue and depression in Sjogren's syndrome.

Endemic nephropathy is a chronic tubulointerstitial nephritis with insidious clinical course.

Serotonin content of platelet in Sjogren's syndrome.

Prati se unos soli u Hrvatskoj. CRASH

The fracture of a turbine shaft in the case of overloading can exhibit brittle or plastic failure, depending on the material properties, the turbine-shaft geometry and the form of loading. Usually, when the toughness increases, the stiffness of the shaft material is reduced, which can lead to the plastic twist of the shaft. If the fatigue crack appears in the critical region of the shaft then the low impact-toughness value may induce a brittle fracture. During the retrofit of a hydro-power plant a new turbine shaft was produced by quenching-and-tempering technology. Charpy impact-toughness tests showed lower values for the shaft material than those prescribed by the project documentation. Since the turbine shaft for a hydro-power plant is a massive and expensive component, it is necessary to determine a sufficient impact toughness for the material in terms of the geometry and the manner of loading for the turbine shaft. Since only the yield strength and the impact toughness of the material were prescribed, the level 0 of the SINTAP should be applied. The minimum impact toughness values that ensure the ductile fracture of the shaft, cracked circumferentially was also estimated. We also analyzed the variation of the shaft’s carrying capacity resulting from a reduction of the non-cracked ligament in the transversal direction.

ESR1, LPL, and APO E genetic polymorphic variants could represent predictive genetic risk markers for lipid status and obesity in young healthy subjects.

Genske polimorfne varijante ESR1, LPL i APO E mogli bi predstavljati prediktivne genske biljege za status lipida i pretilosti u mladih zdravih ispitanika. Mediteranski tip prehrane je također važan pozitivan faktor kod abdominalne pretilosti.

Varijacije i povezanost s pretilošću i statusom lipida.

Visok unos kuhinjske soli važan je faktor rizika za bubrežne i kardiovaskularne bolesti.

In this paper algorithm for solving sparse band system matrices is proposed. Algorithm is based on LU-decomposition, therefore has good numerical properties. Proposed algorithm is applied within the finite difference method (FDM) on solving thin plates bend problem. In order to compare the solution accuracy obtained by proposed algorithm, the same example has been solved by finite element method.

Controversy exists as to whether the deletion/deletion (DD) genotype of angiotensin l-converting enzyme (ACE) gene polymorphism is associated with coronary heart disease (CHD). There are only a few studies dealing with this issue in the elderly, also with controversial results. The aim of this study was the assessment of correlation between genetic markers and the risk of CHD in the elderly. The results indicated DD genotype importance for CHD in the elderly as proven by discriminant analysis (chi2 = 25.77; df = 16; p = 0.0620). However, the use of univariate method demonstrated no correlation between DD genotype of ACE gene polymorphism and coronary artery disease. D allele of ACE gene was associated with higher activities of ACE plasma. A weak, but increased risk of MI is associated with high frequency of DD genotype in the elderly. Strong correlation between ACE polymorphism and ACE plasma activities was demonstrated.

Differences in serotonin transporter (SERT) expression and function produced by gene polymorphisms are associated with several behavioral and psychiatric traits. Two polymorphic regions of SERT gene: a 44-base-pair (bp) insertion/deletion polymorphism in the promoter region (SERTPR), and variable number of tandem repeats (VNTR) in second intron (SERT-in2) have been characterized. In this study we investigated the frequency distribution of polymorphic variants of short (S, s) and long (L, l) alleles, genotypes and haplotypes of SERTPR, and SERTin2, in patients with major depressive disorder (MDD) and compared it with results obtained from the Croatian healthy population. Subjects and methods: One hundred and fourteen patients who fulfilled DSM-IV criteria for a diagnosis of MDD were included in the study. Comparisons were made with the results obtained for 120 healthy volunteers representing a mixed Croatian population. SERT genotyping was performed by the PCR (polymerase chain reaction) method. The frequency distribution of L and S alleles and genotypes of SERTPR was not statistically different between MDD patients and control participants. The proportion of SERT-in2 short (s) alleles was significantly higher among MDD patients in comparison to healthy subjects (P=0.04). "s" allele variant in the intron 2 of SERT gene could be associated with susceptibility to MDD.

Spinalne amiotrofije su klinički heterogena skupina nasljednih bolesti, najčešće recesivnih, uzrokovana degeneracijom stanica prednjih rogova kičmene moždine. Dva su gena kandidata za uzročnika bolesti: gen za preživljavanje motornih neurona (SMN) i gen za proteinski inhibitor neuralne apoptoze (NAIP). Prikazujemo rezultate ispitivanja učestalosti homozigotne delecije u različitih bolesbika uključujući 202 djece s dijagnozom SMA i 70 odraslih bolesnika u skladu s dijagnostičkim kriterijima međunarodnog Konzorcija za SMA. Pretraživanje (screening) delecije eksona 7 i 8, SMN gena obavljeno je PCR/polimorfizmom restrikcijskig fragmenata, zasnovanom na redoslijedu nukleotida između SMN gena i lokusa BCD541. Analiza NAIP gena učinjena je umnažanjem eksona 5 i 13, uz pomoć M-PCR. Rezultati analize bolesnika sa SMA tip I pokazuju delecije eksona 7 i 8, SMN gena, i eksona 5 NAIP gena. Bolesnici sa SMA tipovima II i III pokazuju deleciju eksona 7 i/ili 8 SMN gena, uz normalan nalaz NAIP gena. Međutim, delecija SMN gena nađena je i u SMA tip 4, u kojeg je početak bolesti u odrasloj dobi. Prikazani su i rezultati 20 slučajeva prenatalne dijagnostike. Molekulsko ispitivanje SMN i NAIP gena potvrđuje dijagnostičku važnost pretrage te pomaže razumijevanju molekulske osnove tih genetski sličnih, a klinički različitih bolesti.

Our aim was to analyze the role of the established risk factors and the influence of ACE gene polymorphism on the clinical course of the PG.

Genotyping of multilocus risk markers in patients with myocardial infarction

The importance of low birth weight for later development of arterial hypertension is still a matter of debate.

Smoking is an important and independent cardiovascular risk factor.

According to the Framingham study, the odds ratio for the onset of coronary disease at the e4 allele of the APO E gene is higher than for any other gene marker of lipid disorder.

To assess lipid profile and the genotype distribution of lipoprotein lipase gene polymorphism at Pvu II polymorphic site within the intron between exons 6 and 7 in patients with hypertriglyceridemia. Pvu II polymorphism was determined in 116 hypertriglyceridemic patients and 50 normolipidemic controls from Zagreb, Croatia. DNA was extracted from peripheral blood mononuclear cells. Polymerase chain reaction was used for amplification of 6th intron, which was then restricted with Pvu II-restriction endonuclease. Serum lipid and lipoprotein fractions were determined by standard enzymatic methods. Cholesterol concentrations in HDL subfractions, HDL2 and HDL3, were determined after precipitation with polyethyleneglycol. Apolipoproteins (apo) A-I and B were determined by immunonephelometry. Triglycerides showed a positive correlation with total cholesterol (r=0.222, 95% CI=0.041- 0.389, p=0.017) and inverse correlation with HDL-cholesterol (r=-0.278, 95% CI=-0.449 to -0.088, p=0.005), especially with HDL3- cholesterol (r=-0.333, 95% CI=-0.497 to -0.147, p=0.001). The respective frequencies for genotypes – /– , +/– , and +/+ were 22, 58, and 36 in the patient group, and 17, 17, and 16 in the control group. Serum triglycerides in the patient group, expressed as median in mmol/L, were 3.30 (range, 2.60-10.90), 3.60 (range, 2.50-21.50), and 3.99 (range, 2.50- 15.56), respectively. Serum concentration of triglycerides differed significantly between the +/+ and – /– genotype (p=0.043). Conclusion. There is an association between genetic variation at the locus for lipoprotein lipase and high serum triglyceride levels. This might prove useful in the detection of individuals susceptible to the development of hypertriglyceridemia, as well as a marker in the analysis of this genetic defect in patient families.

The renin-angiotensin-aldosterone system (RAAS) has been considered one of the probable pathophysiologic mechanisms involved in disease progression. Genetic polymorphism of the RAAS has been associated with the clinical course of renal disease. One of the genetic polymorphisms is a deletion or insertion of a 287 base pair fragment in intron 16 of the angiotensin-converting enzyme (ACE) gene. It is known that ACE gene polymorphism is present in humans and that it is associated with an increased risk of cardiovascular diseases, renal disease progression and sarcoidosis. In this study, the potential significance of ACE gene polymorphism in patients with systemic lupus erythematosus (SLE) was investigated. ACE gene polymorphism was determined in 18 patients with SLE and in 21 healthy volunteers as a control group. The mean age of patients was 38.5 years. All patients had a mean follow-up of 30.7 +/- 20.2 months (range 5-95 months). ACE genotypes were determined by the method of polymerase chain reaction. Proteinuria and creatinine were also followed. The frequency of DD, ID and II genotypes was 50%, 28% and 22% in SLE patients and 25%, 50% and 25% in healthy controls, respectively. DD genotype was more common in SLE patients than in the control group. The patients with II genotype had lower proteinuria and creatinine level than those with DD genotype (p < 0.05). The time to disease remission was shorter in patients with II genotype (p < 0.05). Study results indicated an increased frequency of D allele in SLE patients. The increased ACE activity in these patients pointed to the need of further studies of ACE gene polymorphism in SLE.

Two genes, i.e. survival motor neuron (SMN) and neuronal apoptosis inhibitory protein (NAIP) have been mapped to the SMA region of chromosome 5q13. Both genes are frequently deleted or truncated in SMA patients. We have studied 26 patients with SMA types I-III, 29 first relatives, and 14 subjects with mild adult-onset type IV. DNA deletion genotypes were determined by PCR techniques amplifying exons 7 and 8 of SMN, and exon 5 of NAIP gene which distinguish SMN and NAIP telomeric copy from a non-pathogenic gene homologue as a centromeric copy. Results revealed the homozygous deletions of exon 7 and 8 of the SMN gene and exon 5 of the NAIP gene in 3/3 infants with SMA I and in 1/20 with SMA type II. Exons 7 and 8 of the SMN gene were homozygously deleted in 10/20 and only exon 7 in 6/20 children with SMA type II. The overall percentage of deletion cases observed was 77% in children with SMA types I-III. Adult patients with type IV SMA showed no homozygous deletion of exons 7, 8 and 5 of the SMN and NAIP genes. Also, all relatives had both a telomeric and centromeric SMN and NAIP copy. Deletion analysis of SMN and NAIP genes are a significant diagnostic tool, because there are clinical entities resembling SMA which most likely have another pathogenetic background.

Mutations in the LDL-receptor gene cause a marked elevation of plasma cholesterol, in particular of the LDL subfraction, and the clinical phenotype of familial hypercholesterolemia. Mutation analysis was performed in 127 hypercholesterolemic patients from Zagreb. The promoter region and all 18 exons of the LDL-receptor gene were screened using single-strand conformation polymorphism method. The molecular defects detected were then characterized by direct sequencing. Nucleotide changes were detected in 9.4% patients with hypercholesterolemia. About five different mutations in the low-density lipoprotein receptor gene were identified in 12 patients. Four missense mutations (C6W, C127R, D200G and S265T) were located in ligand binding domain and one (G457R) was located in the epidermal growth factor precursor homology domain. One of these mutations, C127R (FH Zagreb), has not been described before in any other population. Five genetic polymorphisms (C6C, A370T, R450R, N570N and V632V) were detected in other. Knowledge of genetic basis of hypercholesterolemia may contribute to designing a specific diagnostic analysis scheme. Therefore, for molecular diagnosis of familial hypercholesterolemia in Croatia, the whole low density lipoprotein receptor gene of each patient must be screened for new and recurrent mutations.