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1.
Diagnostics (Basel) ; 14(18)2024 Sep 11.
Artigo em Inglês | MEDLINE | ID: mdl-39335692

RESUMO

AIM: Our goal was to examine the effect of high-intensity physical activity on changes in the lipid profile, complete blood count (CBC), iron metabolism, and kidney and liver function tests of professional water polo players. METHODS: This study included twenty professional male water polo players. Blood sampling was carried out at the beginning of the season and during periods of high-intensity training. CBCs were determined with a Siemens Advia 2120i hematology analyzer. A Beckman CoulterAU680 chemistry analyzer was used to determine the serum concentrations/activities of lipid profiles and liver and kidney function test analytes. The lipid athlete scores were also determined. RESULTS: The mean corpuscular volume (p = 0.006), platelet count (p = 0.008), and mean platelet volume (p < 0.001) significantly decreased during the high-intensity period, compared with the beginning of the season. The total iron-binding capacity increased (p = 0.001), and ferritin concentrations significantly declined (p = 0.017). The lipid profiles revealed a significant difference between phases, with slight increases in serum total (p = 0.025) and LDL cholesterol (p = 0.002) levels and a decrease in triglyceride concentrations (p = 0.040) in the high-intensity period. During the high-intensity period, the liver and kidney function tests showed a substantial positive effect on lactate dehydrogenase levels (p < 0.001), aspartate aminotransferase (p = 0.028) serum activity, and total protein concentrations (p = 0.033), compared with the beginning of the season. CONCLUSIONS: Water polo players might exhibit a decrease in some CBC parameters, an increase in LDL cholesterol, and a decrease in liver function biomarkers due to intense training at the peak of the competitive season. Kidney function biomarkers remain unchanged.

2.
Int J Mol Sci ; 25(13)2024 Jul 02.
Artigo em Inglês | MEDLINE | ID: mdl-39000382

RESUMO

Alzheimer's disease (AD) represents a prominent neurodegenerative disorder (NDD), accounting for the majority of dementia cases worldwide. In addition to memory deficits, individuals with AD also experience alterations in the visual system. As the retina is an extension of the central nervous system (CNS), the loss in retinal ganglion cells manifests clinically as decreased visual acuity, narrowed visual field, and reduced contrast sensitivity. Among the extensively studied retinal disorders, age-related macular degeneration (AMD) shares numerous aging processes and risk factors with NDDs such as cognitive impairment that occurs in AD. Histopathological investigations have revealed similarities in pathological deposits found in the retina and brain of patients with AD and AMD. Cellular aging processes demonstrate similar associations with organelles and signaling pathways in retinal and brain tissues. Despite these similarities, there are distinct genetic backgrounds underlying these diseases. This review comprehensively explores the genetic similarities and differences between AMD and AD. The purpose of this review is to discuss the parallels and differences between AMD and AD in terms of pathophysiology, genetics, and epigenetics.


Assuntos
Doença de Alzheimer , Biomarcadores , Epigênese Genética , Degeneração Macular , Humanos , Doença de Alzheimer/genética , Doença de Alzheimer/metabolismo , Doença de Alzheimer/patologia , Degeneração Macular/genética , Degeneração Macular/metabolismo , Degeneração Macular/patologia , Biomarcadores/metabolismo , Animais , Predisposição Genética para Doença , Retina/metabolismo , Retina/patologia
3.
Diagnostics (Basel) ; 14(13)2024 Jun 23.
Artigo em Inglês | MEDLINE | ID: mdl-39001222

RESUMO

This study investigated the releasing dynamics of serum ST2 and calprotectin in patients with acute IS. The study included acute IS patients (N = 20) with an NIH Stroke Scale score ≥8. Sampling was performed at seven time points: after admission (T0) and at the following 24 h consecutive intervals (T1-T6). Primary outcome at 90 days was evaluated using the modified Rankin scale: 0-2 for good and 3-6 for poor functional outcome. The secondary outcome was all-cause mortality after 90 days. Fifteen patients had a poor outcome, and eight died. Results showed a statistically significant difference in ST2 concentrations between good and poor outcomes at T0 (p = 0.04), T1 (p = 0.006), T2 (p = 0.01), T3 (p = 0.021), T4 (p = 0.007), T5 (p = 0.032), and for calprotectin T6 (p = 0.034). Prognostic accuracy was highest for ST2 at T1 for a cut-off > 18.9 µg/L (sensitivity 80% and specificity 100.0%) and for calprotectin at T5 for a cut-off > 4.5 mg/L (sensitivity 64.3% and specificity 100.0%). Serum ST2 and calprotectin-releasing dynamics showed a valuable prognostic accuracy for IS outcomes.

4.
Oncol Res ; 32(8): 1265-1285, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-39055896

RESUMO

Uveal and conjunctival melanomas are relatively rare tumors; nonetheless, they pose a significant risk of mortality for a large number of affected individuals. The pathogenesis of melanoma at different sites is very similar, however, the prognosis for patients with ocular melanoma remains unfavourable, primarily due to its distinctive genetic profile and tumor microenvironment. Regardless of considerable advances in understanding the genetic characteristics and biological behaviour, the treatment of uveal and conjunctival melanoma remains a formidable challenge. To enhance the prospect of success, collaborative efforts involving medical professionals and researchers in the fields of ocular biology and oncology are essential. Current data show a lack of well-designed randomized clinical trials and limited benefits in current forms of treatment for these tumors. Despite advancements in the development of effective melanoma therapeutic strategies, all current treatments for uveal melanoma (UM) and conjunctival melanoma (CoM) remain unsatisfactory, resulting in a poor long-term prognosis. Ongoing trials offer hope for positive outcomes in advanced and metastatic tumors. A more comprehensive understanding of the genetic and molecular abnormalities involved in the development and progression of ocular melanomas opens the way for the development of personalized therapy, with various potential therapeutic targets currently under consideration. Increased comprehension of the molecular pathogenesis of UM and CoM and their specificities may aid in the development of new and more effective systemic therapeutic agents, with the hope of improving the prognosis for patients with metastatic disease.


Assuntos
Neoplasias da Túnica Conjuntiva , Melanoma , Neoplasias Uveais , Humanos , Melanoma/patologia , Melanoma/terapia , Melanoma/genética , Neoplasias Uveais/genética , Neoplasias Uveais/terapia , Neoplasias Uveais/patologia , Neoplasias da Túnica Conjuntiva/terapia , Neoplasias da Túnica Conjuntiva/patologia , Neoplasias da Túnica Conjuntiva/genética , Prognóstico
5.
Clin Chem Lab Med ; 2024 May 08.
Artigo em Inglês | MEDLINE | ID: mdl-38711414

RESUMO

Point-of-care testing (POCT), near-patient testing (NPT) and patient self-tests (PST) are diagnostic examinations performed at the time and place of patient care. While POCT and NPT are performed and analyzed by medical professionals, PST are based on samples and parameters directly collected and analyzed by lay users. These tests are spreading both in high income countries and in low to middle income countries as they are expected to improve healthcare efficiency and equity, by saving resources, releasing pressure from hospitals and reducing logistical barriers. However, accurate multidisciplinary assessment is mandatory to ensure that what they promise is real. We reviewed some important ethical aspects, international standards and regulations. The current risks associated with alternative ways of testing are explained by the principles of respect for patient autonomy and non-maleficence. Further evidence from multidisciplinary assessment is needed to evaluate pros and cons in light of the principles of beneficence and justice. Although POCT or NPT need common regulation and accurate provider training to ensure safe and appropriate interpretation of results, PST needs even more attention as they are subject to direct patient use. Randomized controlled trails including patient education should be conducted in order to provide reliable evidence on clinical outcomes, patient acceptance and cost-effectiveness. Mandatory regulation is needed to avoid harm and EU regulation should help different countries maintain a safe use of devices in a global population of producers and users.

6.
Sports (Basel) ; 11(12)2023 Dec 14.
Artigo em Inglês | MEDLINE | ID: mdl-38133110

RESUMO

The objective was to determine the associations between several biochemical indicators and the dynamics of concentration change across four physical fitness phases over the period of a competitive season. Furthermore, associations between serum calprotectin and biomarkers of inflammation or muscle injury and physical indicators were examined. SUBJECTS AND METHODS: Twenty professional male water polo players (median age: 28 (22-42)) were included in this study. Serum creatine kinase activity was determined by the automated photometric UV method. The concentrations of calprotectin, C-reactive protein, and myoglobin were measured using an automated immunoturbidimetric method, while an automated immunochemistry method was employed for interleukin-6, troponin I, and cortisol determination. Tests of repeated strength, maximal strength, and static strength were used to evaluate physical activity. RESULTS: Serum calprotectin concentrations expressed in median and IQR were significantly different: T1: 2.92 g/mL (2.47; 3.86); T2: 2.35 g/mL (1.26; 2.87); T3: 2.27 g/mL (1.60; 3.27); and T4: 1.47 g/mL (1.04; 2.85) (p = 0.004). Cortisol concentration and CK activity showed significant changes among phases (p = 0.049 and p = 0.014, respectively). Each physical activity examined showed a significant seasonal decrease (all p values were 0.001). Calprotectin serum concentration and indicators of muscular injury, inflammation, and physical activity were found to be correlated during particular stages of the seasonal examination. CONCLUSIONS: Calprotectin values determined throughout one competitive season decreased as training intensity among water polo players increased. Serum calprotectin concentrations and indicators were related to biochemical markers of inflammation and muscle damage.

7.
Int J Mol Sci ; 24(16)2023 Aug 15.
Artigo em Inglês | MEDLINE | ID: mdl-37628989

RESUMO

Uveal melanoma (UM) is rare, but it is the most common primary intraocular malignancy among adults. This review represents the molecular, genetic, and immunobiological mechanisms involved in UM carcinogenesis and progression, as well as data about the association of chromosomal changes, genetic mutations, selective proteins, and biochemical biomarkers with the clinical implications of UM. Genetic analysis has the potential to identify patients with a high risk of UM metastasis, enabling management that is more effective and allowing for the follow-up of patients. Advancements in molecular characterization of UM offer opportunities to develop targeted therapeutic strategies by focusing on relevant signaling pathways. Changes in miRNA expression could be useful in the diagnosis and prognosis of UM, due to unique miRNA profiles in melanoma cells or tissue and its association with metastasis. Although liver function tests do not provide enough data on the prognosis of UM, due to the high frequency of liver metastasis, liver function tests (LFTs) might be useful indicators; however, the absence of rising LFT values cannot lead to the exclusion of liver metastases. Molecular analysis of tumor tissue will allow us to identify patients with the added benefit of new therapeutic agents and provide a better insight into melanoma pathogenesis and its biological behavior.


Assuntos
Neoplasias Hepáticas , Melanoma , MicroRNAs , Neoplasias Uveais , Adulto , Humanos , Melanoma/genética , Neoplasias Uveais/genética , MicroRNAs/genética , Neoplasias Hepáticas/genética , Epigênese Genética
8.
Heliyon ; 8(12): e12568, 2022 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-36636214

RESUMO

Several miRNAs have been previously identified to be associated with cigarette smoke and/or the toxic metals cadmium (Cd) and lead (Pb). The aim of this study was to investigate the associations of maternal cigarette smoking with cadmium (Cd) and lead (Pb) levels, candidate miRNA expression and biochemical parameters across the feto-placental unit. miRNAs were isolated according to protocols provided by manufacturer from 72 healthy postpartum women using Qiagens' kits based on phenol/guanidine samples lysis and silica-membrane purification of total RNA. Candidate miRNAs (miR-1537, miR-190b, miR-16, miR-21, and miR-146a) were quantified by real-time PCR. Biochemical parameters were analyzed in plasma samples by standardized and harmonized enzymatic methods using appropriate calibrators, while CRP was determined by immunoturbidimetric method. Concentration of Cd and Pb in whole blood and placenta samples were measured by inductively coupled plasma mass spectroscopy. Cd levels in smokers were higher in all of the analyzed compartments of the feto-placental unit, Pb in maternal blood and placenta than non-smokers. Smokers also had a higher expression of miR-16 in maternal and miR-146a in cord plasma, and lower expression of miR-21 in the placenta in comparison to non-smokers. Urate concentrations in the maternal plasma of smokers were lower than this value in non-smokers. The study has demonstrated that maternal smoking was associated with toxic metals (Cd and Pb) levels, urate concentration and alteration of miRNA expression. Given that the effects of maternal smoking on miRNA expression are inadequate, all compartments of the feto-placental unit should be analyzed to obtain a complete picture. This paper is the first to report on the results of expression of cellular and circulating miRNAs simultaneously in maternal and fetal compartments and in the placenta.

10.
Biochem Med (Zagreb) ; 31(1): 010901, 2021 Feb 15.
Artigo em Inglês | MEDLINE | ID: mdl-33380895

RESUMO

INTRODUCTION: The assessment of circulating miRNAs is challenging and still limited due to their low concentrations, small size and lack of reference values in human biological samples. Pre-amplification of complementary DNAs may facilitate reliable miRNA quantification. The aim of our study was to evaluate the efficacy of pre-amplification as a step to increase the sensitivity of qPCR analysis for five candidate circulating miRNAs presumably related to toxic metals and cigarette smoke exposure: miR-1537, miR-190b, miR-16, miR-21, and miR-146a. MATERIALS AND METHODS: Candidate miRNAs expression was analysed in plasma samples of 19 mother-newborn pairs. For isolation, transcription, pre-amplification and qPCR quantification kits and protocols by Qiagen (Hilden, Germany) were used. Paired t-test or Wilcoxon rank test were used to compare miRNAs expression levels with and without a pre-amplification step prior to qPCR, separately in maternal and cord plasma. Intraclass correlation (ICC) was calculated as an agreement measure between procedures for each miRNA. RESULTS: Pre-amplification facilitated the detection of all assayed miRNAs with an overall cycle threshold (CT) improvement of 6.6 ± 0.89 (P < 0.05). Excellent ICCs (> 0.90) were found between data for preamplified and not preamplified miR-16, miR-21 and miR-146a. However, these correlations for low expressed miR-190b were moderate (0.79 in maternal; 0.61 in cord plasma) and poor for miR-1537 (0.49 in maternal; no correlation in cord plasma). CONCLUSION: Pre-amplification is a useful, necessary step in the analysis of miR-1537 and miR-190b as a reliable procedure facilitating extracellular miRNA expression detection in human plasma by real-time PCR quantification.


Assuntos
MicroRNA Circulante/sangue , Sangue Fetal/metabolismo , Reação em Cadeia da Polimerase em Tempo Real , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Estudos Transversais , Feminino , Humanos , Masculino
11.
Biochem Med (Zagreb) ; 30(2): 020201, 2020 Jun 15.
Artigo em Inglês | MEDLINE | ID: mdl-32550811

RESUMO

Biochemia Medica is an open access journal that does not charge manuscript processing or publishing. All editorial staff are continuously educated and directed to follow the highest ethical and scholarly publishing standards in all steps of the manuscript processing. They are all laboratory medicine professionals, who apart from their regular jobs, are in charge of different phases in Journal processing as volunteers. The publisher of the Journal is scientific and professional association of laboratory medicine professionals, Croatian Society of Medical Biochemistry and Laboratory medicine (CSMBLM). During November and December 2018, without knowledge of the editorial staff, unknown perpetrator(s) downloaded a respectable number of articles published in Biochemia Medica as PDF and launched an illegal web page under the same journal name with downloaded articles. Although this was a very harmful experience, we have learned a lot from it and we would like to share this with scientific journals' community. Therefore, we would like to share this harmful experience, and to present a short workflow on how to manage situations like this if it will be necessary for any scientific journal in the future.


Assuntos
Direitos Autorais , Revisão da Pesquisa por Pares/normas , Editoração/normas , Croácia , Ética em Pesquisa , Internet , Publicação de Acesso Aberto , Sociedades Médicas
12.
Clin Chem Lab Med ; 57(9): 1319-1328, 2019 08 27.
Artigo em Inglês | MEDLINE | ID: mdl-30990783

RESUMO

Background Ethical MedTech prescribes high standards for the participation of the in vitro diagnostics (IVD) industry in third-party organised educational events in terms of charitable donations, educational grants, scholarships and fellowships. We planned a survey to investigate the previous and current practice in terms of cooperation between professionals or professional societies and the IVD industry, as well as plans under the incorporation of the MedTech Europe Code. Methods Different questions, from general information to specific questions related to the practice and knowledge of the new Ethical MedTech Code, were included in two different surveys; for European Federation of Clinical Chemistry and Laboratory Medicine (EFLM) National Societies' (NSs) representatives, and for their (NSs) individual members. Results Twenty-five out of 40 EFLM NS representatives replied; more than half declared that all different types of financial resources were available for supporting the continuing professional education of health care professionals (HCPs). In addition, 322 individual responses collected from 31 NSs, answered that the institutional director (50.3%) or laboratory chief (70.1%) made generally made a decision, without specific criteria. Conclusions The MedTech Europe Code is already adopted or is about to be adopted in numerous EFLM NSs, but most of them have not implemented it as yet. The use of the Code and better communication between IVD companies and HCPs are necessary to guarantee an improved and fair use of financial support, as well as better choices for the organisation and attendance at scientific events.


Assuntos
Química Clínica/educação , Apoio Financeiro/ética , Pessoal de Saúde/economia , Química Clínica/economia , Europa (Continente) , Humanos , Laboratórios , Sociedades Médicas , Inquéritos e Questionários
13.
14.
J Trace Elem Med Biol ; 45: 163-170, 2018 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-29173474

RESUMO

The main source of exposure for all essential and toxic elements in the general population is diet. In smokers, the main route for cadmium (Cd) and lead (Pb) intake is the inhalation of tobacco smoke. Besides gender, age, nutrition, lifestyle, and physiological conditions such as pregnancy, specific genetic characteristics also influence individual element uptake. Metallothionein MT2 is a cysteine-rich low-weight protein found ubiquitously throughout the body. Specific gene polymorphism may influence MT2 expression and subsequent binding, transfer and organ accumulation of metals, though data on these influences are lacking, especially in human mother-newborn pairs. The objective of this study was to determine selected toxic (Cd, Pb, Hg) and essential (Fe, Zn, Cu, Se) elements in maternal blood, placenta, and cord blood (by ICP-MS), and MT2 levels in maternal serum (by ELISA) in relation to maternal MT2A -5A/G (rs28366003) polymorphism (by RFLP-PCR and electrophoresis). Study participants were healthy postpartum women in Croatia (n=268, mean age 29 years) with term vaginal childbirth in a maternity ward assigned into two study groups by self-reporting about their smoking habit (by questionnaire). Smokers vs. non-smokers had increased levels of Cd and Pb in all measured samples, Fe and Cu in cord blood, Zn in placenta, and MT2 in maternal serum. Among subjects with AG/GG genotype, placental Fe was significantly lower only among non-smokers, while MT2 levels in serum were lower, though not significantly, regardless of maternal smoking habit. There was no impact of MT2A -5A/G SNP on any element in maternal or cord blood. In conclusion, the results confirmed maternal smoking-related increases in Cd and Pb levels in the maternal-placental-foetal unit. They also provided additional data on concomitant metal concentrations in representative samples of maternal blood, placenta, and cord blood, as well as increased cord blood Fe and Cu, placental Zn, and maternal serum MT2 in smokers. New evidence is that MT2A -5A/G SNP was associated with decreased placental Fe levels in non-smokers. For a final conclusion on the influence of the MT2A -5A/G polymorphism on toxic and essential element levels in mother-newborn pairs, further research would require a larger number of participants divided across subgroups defined by the main source of particular toxic metal exposure (such as specific food intake, cigarette smoking, air pollution and/or occupational exposure).


Assuntos
Metalotioneína/genética , Oligoelementos/sangue , Croácia , Feminino , Sangue Fetal/metabolismo , Humanos , Recém-Nascido , Placenta/metabolismo , Polimorfismo Genético/genética , Gravidez
15.
Arh Hig Rada Toksikol ; 68(1): 46-52, 2017 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-28365671

RESUMO

The aim of this cross-sectional study was to see whether genetic polymorphisms of the enzymes CYP1A1, GSTM1, and GSTT1 are associated with higher risk of coronary artery disease (CAD) and whether they affect lipid profile in 252 subjects living near a natural gas plant, who are likely to be exposed to polycyclic aromatic hydrocarbons (PAHs). Fasting serum concentrations of biochemical parameters were determined with standard methods. Genetic polymorphisms of CYP 1A1 rs4646903, rs1048943, rs4986883, and rs1799814 were genotyped with polymerase chain reaction-restriction fragment length polymorphism (PCR-RFPL), while GSTM1 and GSTT1 deletions were detected with multiplex PCR. Cardiovascular risk was assessed with Framingham risk score, and the subjects divided in two groups: >10% risk and ≤10% risk. The two groups did not differ in the genotype frequencies. MANCOVA analysis, which included lipid parameters, glucose, and BMI with sex, age, hypertension and smoking status as covariates, showed a significant difference between the GSTT1*0 and GSTT1*1 allele carriers (p=0.001). UNIANCOVA with same covariates showed that total cholesterol and triglyceride levels were significantly higher in GSTT1*1 allele carriers than in GSTT1*0 carriers (p<0.001 and p=0.006, respectively). Our findings suggest that CYP1A1, GSTM1, and GSTT1 polymorphisms are not associated with the higher risk of CAD, but that GSTT1 affects lipid profile.


Assuntos
Doenças Cardiovasculares/etiologia , Doenças Cardiovasculares/genética , Citocromo P-450 CYP1A1/genética , Glutationa Transferase/genética , Lipídeos/genética , Hidrocarbonetos Policíclicos Aromáticos/efeitos adversos , Polimorfismo Genético , Adulto , Idoso , Idoso de 80 Anos ou mais , Estudos de Casos e Controles , Croácia , Estudos Transversais , Feminino , Predisposição Genética para Doença , Humanos , Masculino , Pessoa de Meia-Idade , Gás Natural/efeitos adversos , Fatores de Risco
16.
Biochem Med (Zagreb) ; 26(1): 90-7, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-26981023

RESUMO

INTRODUCTION: The educational program for health care personnel is important for reducing preanalytical errors and improving quality of laboratory test results. The aim of our study was to assess the level of knowledge on preanalytical phase in population of biomedicine students through a cross-sectional survey. MATERIALS AND METHODS: A survey was sent to students on penultimate and final year of Faculty of Pharmacy and Biochemistry--study of medical biochemistry (FPB), Faculty of Veterinary Medicine (FVM) and School of Medicine (SM), University of Zagreb, Croatia, using the web tool SurveyMonkey. Survey was composed of demographics and 14 statements regarding the preanalytical phase of laboratory testing. Comparison of frequencies and proportions of correct answers was done with Fisher's exact test and test of comparison of proportions, respectively. RESULTS: Study included 135 participants, median age 24 (23-40) years. Students from FPB had higher proportion of correct answers (86%) compared to students from other biomedical faculties 62%, P < 0.001. Students from FPB were more conscious of the importance of specimen mixing (P = 0.027), prevalence of preanalytical errors (P = 0.001), impact of hemolysis (P = 0.032) and lipemia interferences (P = 0.010), proper choice of anticoagulants (P = 0.001), transport conditions for ammonia sample (P < 0.001) and order of draw during blood specimen collection (P < 0.001), in comparison with students from SM and FVM. CONCLUSIONS: Students from FPB are more conscious of the importance of preanalytical phase of testing in comparison with their colleagues from other biomedical faculties. No difference in knowledge between penultimate and final year of the same faculty was found.


Assuntos
Coleta de Amostras Sanguíneas/métodos , Testes de Química Clínica/métodos , Compreensão , Conhecimento , Estudantes de Medicina , Inquéritos e Questionários , Adulto , Croácia , Estudos Transversais , Avaliação Educacional/métodos , Avaliação Educacional/normas , Humanos , Faculdades de Medicina/normas , Universidades , Adulto Jovem
18.
Biochem Med (Zagreb) ; 23(3): 255-65, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-24266295

RESUMO

Polycyclic aromatic hydrocarbons (PAHs) are among the most prevalent environmental pollutants and result from the incomplete combustion of hydrocarbons (coal and gasoline, fossil fuel combustion, byproducts of industrial processing, natural emission, cigarette smoking, etc.). The first phase of xenobiotic biotransformation in the PAH metabolism includes activities of cytochrome P450 from the CYP1 family and microsomal epoxide hydrolase. The products of this biotransformation are reactive oxygen species that are transformed in the second phase through the formation of conjugates with glutathione, glucuronate or sulphates. PAH exposure may lead to PAH-DNA adduct formation or induce an inflammatory atherosclerotic plaque phenotype. Several genetic polymorphisms of genes encoded for enzymes involved in PAH biotransformation have been proven to lead to the development of diseases. Enzyme CYP P450 1A1, which is encoded by the CYP1A1 gene, is vital in the monooxygenation of lipofilic substrates, while GSTM1 and GSTT1 are the most abundant isophorms that conjugate and neutralize oxygen products. Some single nucleotide polymorphisms of the CYP1A1 gene as well as the deletion polymorphisms of GSTT1 and GSTM1 may alter the final specific cellular inflammatory respond. Occupational exposure or conditions from the living environment can contribute to the production of PAH metabolites with adverse effects on human health. The aim of this study was to obtain data on biotransformation and atherosclerosis, as well as data on the gene polymorphisms involved in biotransformation, in order to better study gene expression and further elucidate the interaction between genes and the environment.


Assuntos
Aterosclerose/genética , Aterosclerose/metabolismo , Hidrocarbonetos Policíclicos Aromáticos/farmacocinética , Polimorfismo Genético , Biotransformação/genética , Citocromo P-450 CYP1A1/genética , Citocromo P-450 CYP1A1/metabolismo , Exposição Ambiental , Interação Gene-Ambiente , Glutationa Transferase/genética , Glutationa Transferase/metabolismo , Humanos , Modelos Biológicos , Receptores de Hidrocarboneto Arílico/genética , Receptores de Hidrocarboneto Arílico/fisiologia
19.
Biochem Med (Zagreb) ; 22(2): 217-24, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-22838187

RESUMO

INTRODUCTION: Metabolic syndrome (MetS) is a multifactorial disorder in which dyslipidemia plays an important role. Fatty acid-binding protein 2 (FABP 2) is responsible for transport of free fatty acids in the intestinal endothelium cells. FABP2-genetic variants might affect plasma lipid concentrations and intracellular lipid transport. The aim of this study was to investigate the association between FABP2 Ala54Thr genetic polymorphism and metabolic syndrome and some biochemical and anthropological parameters in elderly subjects. MATERIALS AND METHODS: This cross-sectional study included 140 men and 176 women older than 70 years. Fasting serum concentration of glucose, lipid parameters, total proteins and C-reactive protein were determined by standardized methods. Presence (MetS(+)) or absence (MetS(-)) of MetS was determined according to criteria of the International Diabetes Federation. FABP2 genetic polymorphism Ala54Thr (rs1799883) was genotyped with PCR-RFPL. RESULTS: The genotype frequencies for Ala/Ala, Ala/Thr and Thr/Thr genotype were 60, 36 and 6 in MetS(-), and 131, 70 and 13 in MetS(+), respectively, without statistical significance (P = 0.567). Ala/Ala genotype was a subgroup of non-carriers, while Ala/Thr and Thr/Thr genotypes were Thr54-carriers. Median triglyceride concentration was significantly lower in carriers then in non-carriers for whole MetS(+) group (P = 0.050); there were no significant difference between men with MetS (P = 0.144), but there was a difference between women with MetS (P = 0.020). T-test showed that mean HDL cholesterol concentrations in MetS(+) group for Thr54-carriers was significantly higher in whole group (P = 0.001), and for both genders (men P = 0.039; women P = 0.004) as compared to non-carriers. CONCLUSIONS: FABP2 genetic polymorphism is associated with lower triglyceride and higher HDL-cholesterol concentrations in elderly subjects with MetS. This genetic variation might be a useful marker for understanding dyslipidemia in MetS.


Assuntos
Proteínas de Ligação a Ácido Graxo/genética , Síndrome Metabólica/sangue , Polimorfismo Genético , Idoso , Idoso de 80 Anos ou mais , Antropometria/métodos , Proteína C-Reativa/biossíntese , HDL-Colesterol/metabolismo , Estudos Transversais , Dislipidemias/sangue , Feminino , Genótipo , Humanos , Lipídeos/sangue , Masculino , Reação em Cadeia da Polimerase , Triglicerídeos/sangue
20.
Biochem Med (Zagreb) ; 22(1): 63-75, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-22384520

RESUMO

With considering serum concentration of the uric acid in humans we are observing hyperuricemia and possible gout development. Many epidemiological studies have shown the relationship between the uric acid and different disorders such are obesity, metabolic syndrome, hypertension and coronary artery disease. Clinicians and investigators recognized serum uric acid concentration as very important diagnostic and prognostic factor of many multifactorial disorders. This review presented few clinical conditions which are not directly related to uric acid, but the concentrations of uric acid might have a great impact in observing, monitoring, prognosis and therapy of such disorders. Uric acid is recognized as a marker of oxidative stress. Production of the uric acid includes enzyme xanthine oxidase which is involved in producing of radical-oxigen species (ROS). As by-products ROS have a significant role in the increased vascular oxidative stress and might be involved in atherogenesis. Uric acid may inhibit endothelial function by inhibition of nitric oxide-function under conditions of oxidative stress. Down regulation of nitric oxide and induction of endothelial dysfunction might also be involved in pathogenesis of hypertension. The most important and well evidenced is possible predictive role of uric acid in predicting short-term outcome (mortality) in acute myocardial infarction (AMI) patients and stroke. Nephrolithiasis of uric acid origin is significantly more common among patients with the metabolic syndrome and obesity. On contrary to this, uric acid also acts is an "antioxidant", a free radical scavenger and a chelator of transitional metal ions which are converted to poorly reactive forms.


Assuntos
Biomarcadores/metabolismo , Doenças Cardiovasculares/metabolismo , Hipertensão/metabolismo , Hiperuricemia/metabolismo , Síndrome Metabólica/metabolismo , Ácido Úrico/metabolismo , Doenças Cardiovasculares/patologia , Humanos , Hipertensão/patologia , Hiperuricemia/patologia , Síndrome Metabólica/patologia
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