Quality of life, work ability and oral health among patients with chronic liver diseases

This study aimed to explore the associations between health-related quality of life and work ability with the oral health status of patients with chronic liver disease. A cross-sectional study included 150 patients with chronic liver disease, consecutively seen at University Hospital, Salvador, Brazil. Oral health was evaluated by the Decayed, Missing, and Filled Teeth (DMFT) index and by the presence of gingivitis and periodontitis. Salivary flow was ?reduced? when <1.0 mL/min. Health-related quality of life was evaluated by using the 36-Item Short Form Health Survey questionnaire (SF-36); work ability was evaluated by the Work Ability Index questionnaire. All health-related quality of life indicators were systematically lower among the 99 patients with reduced salivary flow than among the 51 patients with normal salivary flow. Physical Functioning, Role-Physical, and Physical Component Summary scores were strongly correlated (P< 0.005 or less) with the number of Missing Teeth and with DMFT index. Reduced salivary flow was associated (P< 0.05) with poor work ability. Patients with poor or moderate work ability presented higher (P< 0.001) means of the DMFT index than those with good or excellent work ability. Patients with chronic liver disease who present poor oral health presented low health-related quality of life and poor work ability. These findings reinforce the need of these patients for specialized stomatological care

Interaction between HFE and haptoglobin polymorphisms and its relation with plasma glutathione levels in obese children

Short CommunicationObesity among children has emerged as a serious public health problem. The growing prevalence of childhood obesity has led to the appearance of serious complications, including a chronic systemic inflammation associated with oxidative stress. In the present study, we analysed the interaction between two genes related with iron metabolism - HFE and haptoglobin – and the plasmatic concentration of glutathione, as a way to evaluate the antioxidant response capacity in obesity. To achieve this, 118 obese children and 89 eutrophic children were recruited for the study. Results showed that although obese children present a significantly decreased tGSH levels, once we analysed separately children based on their haptoglobin phenotype, the decreased tGSH levels is significant only for the Hp 2 allele. Additionally, Hp 2.2 obese children carrying H63D polymorphism show significantly lower tGSH/GSSG values. Our results found an association of haptoglobin and HFE with oxidative stress in childhood obesity.The authors are grateful to all study participants and their families and would like to thank the Instituto de Investigação Científica Bento da Rocha Cabral for financial support.info:eu-repo/semantics/publishedVersio

Study of the interaction between modulators of iron homeostasis and the ACE gene in heart failure

Introduction: Heart failure (HF) refers to a clinical syndrome composed of a set of symptoms and/or signs that originate from a structural and/or functional cardiac anomaly and that give rise to the inability to pump blood in sufficient quantity, to meet the body's metabolic needs. In the present work, we intend to understand how the interaction between the I/D variation in the ACE gene and possible modulators of iron (Fe) homeostasis influence HF. The modulators under study were: the methemoglobin reductase activity, the Hfe gene and heparanase genes (HPSE) Methodology: A case-control study was carried out with 252 Portuguese people, 143 with HF and 109 healthy controls. To analyze the polymorphism in the HPSE gene (rs4693608) endpoint genotyping (LightCycler480) was performed. To analyze both polymorphisms in the Hfe gene (H63D and C282Y), ARMS Multiplex technique was used. For the analysis of the polymorphism in the ECA gene (rs4646994 - I/D) a regular PCR was performed. Methaemoglobin reductase activity was obtained using spectrophotometric assay. All necessary statistical tests were performed using the IBM® SPSS® Statistics 26.0 software, with values considered significant for p < 0.05. Results: There was an association between HF and: 1) the presence of the D allele of the HFe gene (HH vs HD; p=0.049); 2) the presence of the A allele of the HPSE gene (AA + GA vs GG; p=0.045; 3) lower levels of methemoglobin reductase activity (p=0.019). It was also found that epistasis between the presence of the H or C allele of the Hfe gene and the D allele of the ACE gene are protective in HF (p=0.041 for both). Conclusion: Results of this study highlight the role of iron homeostasis and its interaction with ACE in HF. Iron is an essential component for the proper functioning of mitochondria, which play an important role in providing energy to the heart muscle. Knowledge of the genotype profile of patients, in modulating genes of iron homeostasis in interaction with the ACE gene could be an advantage in the application of a more personalized medicine, allowing preventive counseling and more targeted therapy.info:eu-repo/semantics/publishedVersio

Contribution of HFE and HPSE genes and methaemoglobin reductase activity to heart failure

Introduction: Heart failure can be defined as a syndrome caused by a structural anomaly and/or by a committed cardiac function, which leads to an inadequate cardiac output unable to meet the metabolic necessities of the organism. We aim to understand if HFE and HPSE genes as well as methaemoglobin reductase activity, may influence the development of heart failure. Methodology: It was performed a case-control study, in which 252 DNA samples from Portuguese individuals were analysed, 143 derived from subjects with heart failure, and 109 from healthy controls. For HPSE genotyping (rs4693608), we performed endpoint PCR analysis. A multiplex ARMS (Amplification-Refractory Mutation System) assay was used for the simultaneous detection of two HFE polymorphisms (C282Y and H63D). Reductase methaemoglobin activity was determined by spectrophotometric methods. All statistical tests were performed with IBM® SPSS® Statistics 26.0 software. Statistical significance was defined as a p-value < 0.05. Results: Regarding the H63D polymorphism, results show the CG genotype as a risk factor [OR (95% CI) = 2.889 (1.041-8.018); p=0.042]. In what concerns HPSE gene, the GG genotype was found to have a protective effect [OR (95% CI) = 0.435 (0.193-0.982); p=0.045] while the presence of the A allele is a risk factor [OR (95% CI) = 2.297 (1.018-5.179); p=0.045. Considering methaemoglobin reductase, its activity was lower in patients than in healthy controls (p=0.019). Discussion: Intravenous iron supplementation is sometimes considered in heart failure treatment, emphasizing the results presented in the present study. Considering the high prevalence of heart failure in Portugal (400.000 individuals, according to Sociedade Portuguesa de Cardiologia), it is important to identify iron-related markers, since it may allow an earlier and more expert approach, which may provide better prevention and therapeutic strategies for this pathology.N/

A new report on Hesperomyces coleomegillae (Ascomycota, Laboulbeniales) parasitism of Coleomegilla maculata (Coleoptera, Coccinellidae) in Brazil

For the first time, the genus Hesperomyces has been reported to infect Coleomegilla maculata in laboratory mass rearing in Brazil. Thalli were found growing on several parts of this ladybird species, including the head, elytra, legs, and abdomen. Infested adults died after 60 days

Genetic variants in endothelial nitric oxide synthase gene are modifiers of the hemolysis phenotype in Sickle Cell Anemia

Sickle Cell Anemia (SCA) is an autosomal recessive hereditary anemia characterized by the presence of hemoglobin S (Hb S). This disease is caused by a single mutation in beta-globin gene with a corresponding amino acid substitution at the sixth position of the beta-globin chain. The easily ability of Hb S to polymerize in deoxygenated conditions gives rise to abnormal sickled red blood cells. Vaso-occlusion and hemolytic anemia are the major features of this disease, however SCA patients present clinical and hematologic variability that cannot be only explained by the single mutation in the beta-globin gene. Others genetic modifiers and environmental effects are important in the clinical phenotype. We have studied the association between hematological and biochemical parameters (Hb S, total Hb, red cell distribution width (RDW), neutrophils, transmembrane reductase, methemoglobin reductase, serum lactate dehydrogenase (LDH), total bilirubin and reticulocyte count) and some genetic variants, from several candidate genes, in 26 paediatric SCA patients. Our results show a significant statistical association between two endothelial nitric oxide synthase (eNOS) single nucleotide polymorphisms (SNPs) and two haemolysis parameters. Both the rs2070744_TT and the rs1799983_GG genotypes are associated with an increased reticulocyte count (p =0.02 and 0.01, respectively) and higher serum LDH level (p = 0.04 and 0.04, respectively). Our findings suggest that polymorphisms in the eNOS gene may act as genetic modifiers of the haemolysis process that could provide utility for the prediction of increased susceptibility to haemolysis-related complications. Furthermore, our results reinforce the importance of nitric oxide (NO) bioactivity in SCA. We presume that NO, and possible its precursors such as L-arginine or L-citrulline, might be used as pharmacological tools to improve the quality of life of these patients

Genetic modifiers of the intermediate phenotypes in sickle cell anemia

21ª Reunião da Sociedade Portuguesa de Genética Humana, 16-18 nov 2017Sickle cell anemia (SCA) is an inherited blood disorder characterized by the presence of hemoglobin S (HbS). This disease is caused by a single point mutation in the beta-globin gene with a corresponding amino acid substitution at the sixth position of the beta-globin chain. Vaso-occlusion and hemolytic anemia are the major features of this disease, however, SCA patients present clinical and hematologic variability that cannot be only explained by the single mutation. Others genetic modifiers and environmental factors are important for the clinical phenotype. We studied the association between several hematological and biochemical parameters and a set of genetic variants in 26 pediatric SCA patients. Myeloperoxidase (MPO) and placental growth factor (PlGF) were determined by ELISA (R&D Systems Inc.). Amplification of DNA samples for the rs1050829 characterization, in the glucose-6-phosphate dehydrogenase (G6PD) gene, was performed by PCR followed by restriction fragment length analysis. A multiplex PCR assay was used for simultaneous amplification of glutathione S-transferases mu (GSTM1) and theta (GSTT1). All statistical tests were performed with SPSS 24.0 software. Our results show higher levels of MPO (p<0.001) and PlGF (p=0.048) in SCA patients, compared with healthy adult controls. Moreover, in these patients we found associations between: 1) lower levels of total hemoglobin and the GSTM1 null genotype (p=0.044); 2) higher levels of HbS with the rs1050829_G genotype (hemizygous males) in the G6PD gene (p=0.026). We suggest that the mentioned polymorphisms in GSTM1 and G6PD genes may act as genetic modifiers in SCA, which could be useful for the prediction of increased susceptibility to complications. Furthermore, our results reinforce the importance to study biochemical parameters for a better understanding of the clinical outcome of this disease.info:eu-repo/semantics/publishedVersio