ABSTRACT
BACKGROUND AND AIMS: Apolipoprotein B plays a crucial role in regulating plasma cholesterol by mediating the interaction of low-density lipoprotein (LDL) with LDL receptors in the liver. Inherited mutations in this gene may increase the risk of developing premature atherosclerotic cardiovascular disease, especially in individuals with familial hypercholesterolemia type 2 (FH2). The aim of this study is to identify APOB variants that may indicate pathogenicity in a sample of the Brazilian population using a data bank exome sequencing study by NGS in a Brazilian population phenotypically diagnosed by clinical and laboratory profile. This finding is going to improve genetic hypercholesteremia diagnosis. METHODS: High-quality DNA samples (n»300) were sequenced using an exon-targeted gene sequencing (ETGS) strategy to identify variants in FHrelated genes. Pathogenicity classification was based on criteria established by the American College of Medical Genetics and Genomics (ACMG), also using information from ClinVar and pathogenicity scores from previous association studies. RESULTS: A total of 121 variants were identified in APOB, of which four are novel variants missense (p.Thr626Asn, p.Ile2750Thr, p.Gln2078Lys and p.Met4184Arg). After curating pathogenicity scores, variants were classified according to the ACMG criteria. Among them four as pathogenic or likely pathogenic (p.Pro2739Leu, p.His1923Arg, p.Pro994Leu and p.Pro877Leu), and 21 variants had uncertain significance. Additionally, 92 previously known variants with uncertain significance were classified as benign or likely benign. The results were submitted to Clinvar for actualization of pathogenicity. CONCLUSIONS: These results improve the molecular diagnosis associating APOB variants with the clinical phenotype of hypercholesterolemia.
Subject(s)
DNA , Molecular Diagnostic Techniques , Exome Sequencing , Hypercholesterolemia , Adaptation, Physiological , Mutation, MissenseABSTRACT
Objetivou-se determinar a composição química, os valores energéticos e os coeficientes de digestibilidade ileal verdadeira de aminoácidos de sojas integrais tostadas de cinco regiões. No primeiro experimento, foram utilizados 288 pintos de corte machos da linhagem Cobb 500, com 13 dias de idade e peso médio de 420,0±5,0g. O delineamento experimental utilizado foi inteiramente ao acaso, com seis tratamentos (cinco sojas integrais e uma ração referência) e oito repetições de seis aves. No segundo experimento, foram utilizados 288 frangos de corte machos da linhagem Cobb 500, com 24 dias de idade e peso médio de 865,0±20,0g. O delineamento experimental utilizado foi inteiramente ao acaso, com seis tratamentos (cinco sojas integrais e uma ração isenta de proteína à base de amido) e oito repetições de seis aves. Não houve diferença em relação aos teores de EMAn e de CEMAn (P>0,05) entre as sojas integrais. Os valores médios de EMAn, CEMAn situaram-se entre 3152 e 3399kcal/kg e 61,15 e 65,08%, respectivamente. No entanto, houve diferença (P<0,05) entre os CAE, CANE e CPB das sojas integrais, e a amostra cinco obteve os menores valores. Os valores médios para os CAE e CANE da soja integral são de 88,96% e 87,53%, respectivamente.(AU)
The goal of this paper was to determine the chemical composition, the energy values and the amino acid true ileal digestibility coefficients of toasted full-fat soybeans from 5 regions. In the first experiment, 288 chicken broilers from Cobb 500 lineage with 13 days old and average weight of 420.0±5.0g were used. The experimental design was completely randomized with 6 treatments (5 full-fat soybean diets and 1 basal diet) and 8 replicates of 6 birds. In the second experiment, 288 chicken broilers from Cobb 500 lineage with 24 days old and average weight of 865.0±20.0g were used. The experimental design was completely randomized with 6 treatments (5 full-fat soybean diets and 1 protein-free diet based on starch) and 8 replicates of 6 birds. There was no difference regarding the AMEn and AMECn contents (P>0.05) among the full-fat soybeans. The average values of AMEn, AMECn were between 3152-3399 kcal/kg and 61.15 to 65.08%, respectively. However, there were differences (P<0.05) between CEA, CENA and CPC of full-fat soybeans, and sample 5 obtained the lowest values. The average values for CEA and CENA of the full-fat soybean are 88.96% and 87.53%, respectively.(AU)
Subject(s)
Animals , Amino Acids/analysis , Chickens/metabolism , Energy Metabolism , Food/analysis , Glycine max/chemistry , Animal Nutritional Physiological Phenomena , Diet/veterinaryABSTRACT
OBJECTIVE: Considering the challenges faced by members of the Intrahospital Committee of Organ and Tissue Donation for Transplantation (CIHDOTT) of a Brazilian hospital complex in Santa Casa of Belo Horizonte in the execution of multiple donations of organs and tissues, this study aimed to investigate the issues involved in the intention to donate within this population. This research sought to promote the work of CIHDOTT by planning strategies for conducting of family interviews to best meet the needs of this population, thereby contributing to reduce the wait-list for transplantations in this state hospital of Minas Gerais. METHODS: The survey was performed by applying a standard questionnaire to 602 respondents comprising patients and families/caregivers. The analysis of the collected data was developed from studies of contingency tables based on chi- square and Fisher exact tests. RESULTS: The analysis revealed that 94% of the population to be favorable to donation. It also showed a significant influence of the following factors to determining the likelihood of organ donation: knowledge of religion (35%), spouse's opinion (17%), as well as belief in the possibility of interference or delay of the funeral as a result of donation (6%). CONCLUSION: Although the population expressed a willingness to donate, there were significant contravening factors that may be addressed by professional training and informational activities.
Subject(s)
Hospitals , Intention , Tissue Donors/psychology , Tissue and Organ Procurement , Adult , Aged , Altruism , Awareness , Brazil , Chi-Square Distribution , Comprehension , Female , Gift Giving , Health Knowledge, Attitudes, Practice , Humans , Interviews as Topic , Male , Middle Aged , Religion and Medicine , Spouses/psychology , Surveys and Questionnaires , Third-Party Consent , Tissue Donors/supply & distribution , Waiting Lists , Young AdultABSTRACT
Some aspects of the ecology of eleven species of Culicidae that were found breeding in recipients in an urban area of Southern Brazil are presented. A great variety of recipients were listed as efficient breeding sites. Apparently Aedes aegypti has been recently introduced into the region and was limited to two areas of the city. Culex quinquefasciatus, Cx. coronator, Ae. aegypti, Ae. fluviatilis e Limatus durhamii were the predominant species.
Subject(s)
Aedes/physiology , Insect Vectors/physiology , Aedes/classification , Animals , Brazil , Female , Larva/physiology , MaleABSTRACT
Cada vez säo mais freqüentes os acidentes que ocorrem em nosso meio. A visäo fatalista com que säo encaradas tais ocorrências determina atitudes de omissäo ou mesmo de recusa em relaçäo ao planejamento global da questäo. O Sistema Médico de Emergência deve-se centrar em dois objetivos fundamentais: meios de comunicaçäo eficientes e terapêutica precoce. As falhas principais da assistência de emergência em nosso país säo: inexistência de eficiente sistema de comunicaçöes; deficiência de atendimento médico imediato; inadequaçäo dos meios de transporte; ausência ou descontinuidade do treinamento das equipes de emergência; e falta de orientaçäo educacional, dirigida à comunidade
