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1.
Hematol Transfus Cell Ther ; 45(3): 317-323, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-35715379

RESUMO

INTRODUCTION: To date, 340 antigen-organized 43 blood group systems are recognized, being ABO, Rh, Kell, Duffy, Kidd, MNS and Diego the most clinically relevant. The aim of this study was to assess the distribution of alleles and genotypes of the blood group systems Rh, Kell, Duffy, Kidd, MNS and Diego in 810 blood donors registered in the hemotherapy unit in northwest Rio Grande do Sul, Brazil METHODS: We evaluated the genetic variability of blood groups Rh (c.676G>C and c.307C>T), Kell (c.578C>T), Kidd (c.838A>G), Duffy (c.125A>G and c.1-67T>C), Diego (c.2561C>T) and MNS (c.143T>C) in 810 volunteer blood donors of Rio Grande do Sul, southern Brazil. The genetic profiling was performed through allelic discrimination assays using hydrolysis probes (TaqMan®) real-time PCR system. RESULTS: The most frequent blood group genotypes found in our study population were: RHC*Cc (51.5%), RHC*ee (70.1%), FY*A/FY*B (49.3%), GATA -67T/T (93.5%), KEL*2/KEL*2 (93.4%), JK*A/JK*B (53.2%) and DI*02/DI*02 (95.4%). Some statistical differences were observed on comparing the population of this study with populations from other states in Brazil, mainly with population of Minas Gerais, Bahia and Paraná, which showed some differences from the population of Porto Alegre, which was more similar to those of Santa Catarina and São Paulo CONCLUSION: The frequency of red blood cell polymorphisms in our study is different from that of blood donors in other regions of Brazil. The results showed the importance of extended genotyping in adequate blood screening and the existence of rare genotypes in Brazilian regular blood donors.

2.
Artigo em Inglês | MEDLINE | ID: mdl-34574727

RESUMO

The human locus FNDC5 rs16835198 contributes positively to anthropometric phenotypes in children and adolescents. However, the role of specific components of physical fitness in this relationship is not known. The present study aimed to verify the moderator role of cardiorespiratory fitness (CRF) and muscular strength in the relationship between rs16835198 polymorphism FNDC5 and adiposity in children and adolescents. This cross-sectional study was carried out by genotyping the rs16835198 FNDC5 polymorphism in 1701 children and adolescents (mean age 11.73 ± 2.75 years). Obesity was assessed using waist circumference and body mass index (BMI) z-scores. To evaluate CRF and muscular strength, the 6 min run/walk test and lower limb strength (LLS) were used. Linear regression models were applied, and all analyses were adjusted for age, sex, skin color, living area, and school type. A significant interaction term for CRF (p = 0.038) and LLS (p = 0.040) × rs16835198 FNDC5 with WC was identified. Regarding BMI, a significant interaction term for CRF (p = 0.007) and LLS (p = 0.044) × rs16835198 FNDC5 was observed. Moreover, medium and high CRF and LLS levels protected against higher WC and BMI. In conclusion, adiposity levels of children and adolescents with a genetic predisposition to obesity might be modified by improving CRF and muscular strength.


Assuntos
Adiposidade , Aptidão Cardiorrespiratória , Fibronectinas/genética , Força Muscular , Adiposidade/genética , Adolescente , Índice de Massa Corporal , Criança , Estudos Transversais , Humanos , Obesidade , Aptidão Física , Circunferência da Cintura
3.
Genet Mol Biol ; 44(2): e20190373, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33821873

RESUMO

Any condition leading to chronic liver disease is a potential oncogenic agent for hepatocellular carcinoma (HCC). Alterations in the expression of antioxidant enzymes could alter the redox balance. Our aim was to evaluate the expression of the genes GPX1, GPX4, SEP15, SELENOP, SOD1, SOD2, GSR, CAT, and NFE2L2 in patients with HCC. Differential gene expression analysis was performed using RNA-Seq data from the TCGA and GTEx databases, and RT-qPCR data from HCC patient samples. Bioinformatic analysis revealed significant differential expression in most genes. GPX4 expression was significantly increased (p=0.02), while SOD2 expression was significantly decreased (p=0.04) in experimental data. In TCGA samples, alpha-fetoprotein levels (mg/dL) were negatively correlated with the expression of SEP15 (p<0.001), SELENOP (p<0.001), SOD1 (p<0.001), SOD2 (p<0.001), CAT (p<0.001), and NFE2L2 (p=0.004). Alpha-fetoprotein levels were positively correlated with the expression of GPX4 (p=0.02) and SELENOP (p=0.01) in the experimental data. Low expression of GPX1 (p=0.006), GPX4 (p=0.01), SELENOP (p=0.006), SOD1 (p=0.007), CAT (p<0.001), and NFE2L2 (p<0.001), and higher levels of GSR, were associated with low overall survival at 12 months. These results suggest a significant role for these antioxidant enzymes in HCC pathogenesis and severity.

4.
Genet Mol Biol ; 44(2): e20200255, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33877261

RESUMO

The study presents comparisons between blood group frequencies beyond ABO and Rh blood systems in Native American populations and previously published data from Brazilian blood donors. The frequencies of Diego (c.2561C>T, rs2285644), Kell (c.578C>T, rs8176058), Duffy (c.125A>G, rs12075, c.1-67T>C, rs2814778) and Kidd (c.838A>G, rs1058396) variants in Kaingang (n=72) and Guarani (n=234) populations from Brazil (1990-2000) were obtained and compared with data from these populations sampled during the 1960s and with individuals of different Brazilian regions. Data showed high frequencies of DI*01 and FY*01 alleles: 11.8% and 57.6% in Kaingang and 6.8% and 75.7% in Guarani groups, respectively. The main results indicated: (1) reduction in genetic distance over time of Kaingang and Guarani in relation to other Brazilian populations is suggestive of ongoing admixture; (2) significant differences in some frequencies of blood group markers (especially Diego, Kidd and Duffy) in relation to Native Americans and individuals from different geographical regions of Brazil. Our study shows that the frequency of red blood cell polymorphisms in two Native American groups is very different from that of blood donors, when we evaluated blood groups different from ABO and Rh systems, suggesting that a better ethnic characterization of blood unit receptors is necessary.

5.
J Pediatr Genet ; 10(1): 63-69, 2021 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-33552642

RESUMO

Cherubism is a rare genetic condition characterized by a bone nonneoplastic disease. We aimed to report a 6-year-old girl with cherubism presenting similar cases in the maternal family. However, her mother and grandmother seemed to be asymptomatic. The patient had an enlarged and asymmetric jaw with multiple enlarged cervical lymph nodes that increased in size with time. Sanger sequencing revealed a heterozygous mutation in exon 9 of SH3BP2 not only in the patient but also in her mother. Thus, we observed a variable expression and a probably reduced penetrance within the family, as well as unusual characteristics of the patient (in this case, the asymmetrical involvement of the jaw).

6.
Tuberculosis (Edinb) ; 126: 102020, 2021 01.
Artigo em Inglês | MEDLINE | ID: mdl-33246269

RESUMO

Tuberculosis (TB) and coronavirus disease 2019 (COVID-19) are currently the two main causes of death among infectious diseases. There is an increasing number of studies trying to elucidate the interactions between Mycobacterium tuberculosis and SARS-CoV-2. Some of the first case reports point to a worsening of respiratory symptoms in co-infected TB/COVID-19 individuals. However, data from the cohort studies has shown some conflicting results. This study proposes to conduct a systematic review on the current literature on TB/COVID-19 co-infection cohorts, evaluating clinical and epidemiological data, focusing on its implications to the immune system. From an immunological perspective, the TB/COVID-19 co-infection has the potential to converge in a "perfect storm". The disorders induced by each pathogen to the immunomodulation tend to induce an unbalanced inflammatory response, which can promote the progression and worsening of both diseases. Understanding the nature of the interactions between M. tuberculosis and SARS-CoV-2 will be crucial for the development of therapeutic strategies against co-infection.


Assuntos
COVID-19/virologia , Mediadores da Inflamação/imunologia , Pulmão/microbiologia , Mycobacterium tuberculosis/patogenicidade , SARS-CoV-2/patogenicidade , Tuberculose Pulmonar/microbiologia , Animais , COVID-19/epidemiologia , COVID-19/imunologia , COVID-19/terapia , Coinfecção , Progressão da Doença , Interações Hospedeiro-Patógeno , Humanos , Pulmão/imunologia , Pulmão/virologia , Mycobacterium tuberculosis/imunologia , Prognóstico , SARS-CoV-2/imunologia , Transdução de Sinais , Tuberculose Pulmonar/epidemiologia , Tuberculose Pulmonar/imunologia , Tuberculose Pulmonar/terapia
7.
Scand J Med Sci Sports ; 31(4): 894-902, 2021 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-33274504

RESUMO

Obesity is an important risk factor associated with non-communicable cardiometabolic diseases. Previous studies have indicated that children and adolescents with a predisposed genetic risk for obesity could benefit from an active lifestyle, but there are no studies investigating whether physical fitness moderates the association of genetics and obesity. The aim of this study was to verify the moderating role of physical fitness in the relationship between genetic risk score (GRS) and body mass index (BMI) in children and adolescents. This cross-sectional study was carried out with 1471 children and adolescents, aged between 6 and 17 years from Santa Cruz do Sul, Brazil. Weight and height were assessed to determine BMI. Physical fitness components (cardiorespiratory fitness [CRF], lower limb strength [LLS], upper limb strength, and abdominal strength) were evaluated. The GRS was based on previously associated obesity single-nucleotide polymorphism rs9939609 (FTO), rs6548238 (TMEM18), and rs16835198 (FNDC5). Moderation analyses were tested using linear regression models, and the interactions were represented by physical fitness components X GRS (categorical variable). All analyses were adjusted for skin color/ethnicity, sex, and sexual maturation. Significant interactions for CRF (P = 0.041), LLS (P = 0.041), and abdominal strength (P = 0.046) X 5 and 6 risk alleles with BMI were found only in adolescents. In addition, there was evidence that fitness components attenuated the high genetic predisposition to high BMI. Physical fitness components are moderators in the relationship between GRS and BMI in adolescents. These findings highlight the need for interventions targeting to improve this aspect, which is an important health indicator in all ages.


Assuntos
Índice de Massa Corporal , Predisposição Genética para Doença , Obesidade Pediátrica/genética , Obesidade Pediátrica/fisiopatologia , Aptidão Física/fisiologia , Adolescente , Aptidão Cardiorrespiratória/fisiologia , Criança , Estudos Transversais , Feminino , Humanos , Masculino , Força Muscular/fisiologia
8.
J Pediatr Genet ; 9(4): 263-269, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-32765931

RESUMO

Kenny-Caffey syndrome (KCS) is a rare genetic condition characterized by growth retardation, bone abnormalities, and hypoparathyroidism. Herein, we report an unusual case of a 10-year-old girl with Kenny-Caffey syndrome type 2 (KCS2) presenting with vision impairment-suspected maculopathy and intellectual disability. Endocrine evaluation showed low calcium and high phosphorus plasma levels. Radiographic evaluation revealed short metacarpal bones and delayed bone age. Sequencing analysis showed a missense variant in FAM111A (R569H), unidentified in her parents. Better understanding of potential neurological and ophthalmological findings in KCS2 patients is important to improve quality of life of these patients as usually they exhibit long survival.

9.
Artigo em Inglês | MEDLINE | ID: mdl-32697757

RESUMO

Objectives Evaluate the influence of the genetic variant rs9939609 of the FTO gene on anthropometric characteristics and whether parental obesity is related to children and adolescents being overweight. Methods A total of 2,364 children and adolescents between 6 and 17 years old were genotyped and the lipid profile, plasma glucose level, and anthropometric characteristics were measured to assess adiposity. Results The AA genotype (risk) was associated with higher body mass index (BMI Z-score; p = 0.006), waist circumference (WC; p = 0.001), and triglycerides (p = 0.033). The association of the participants' adiposity characteristics with the parents' BMI and FTO genotypes showed an association of the BMI Z-score when either the mother or father was overweight or obese (p = 0.028 and p = 0.029). In the overweight or obese father/eutrophic mother, we also observe an association of FTO rs9939609 with WC (p = 0.039). The effect of these variables on the risk of obesity was also tested: overweight or obese mother (OR = 1.82, p = 0.041), overweight and obese parents (OR = 3.09, p < 0.0001), and FTO rs9939609 AA genotype (OR = 2.08, p = 0.0004) were associated. With regard to altered WC and high body fat percentage (BF%), either overweight or obese parents (OR = 2.39, p < 0.0001; OR = 1.92, p < 0.002) showed an association. The FTO rs9939609 AA genotype (OR = 1.99, p = 0.0002) was associated with altered WC. Conclusions The results show that parental weight also contributes to obesity and may interact with the FTO genetic make-up.

10.
Genet Mol Biol ; 43(2): e20180327, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32478792

RESUMO

We evaluated genetic variability among the blood groups Kell (c.578C > T and c.1790T > C), Kidd (c.838A > G), Duffy (c.125A > G, c.265C > T and c.1-67T > C), Diego (c.2561C > T), MNS (c.143T > C) and Rh (c.676G > C) in Rio Grande do Sul in southern Brazil. Genetic profiling from 382 volunteer blood donors was performed through allelic discrimination assays using a hydrolysis probe (TaqMan®) with a real-time PCR system. The sample was divided into two groups: Euro-Brazilian and Afro-Brazilian. A comparison with studies from other regions of Brazil and the 1000 Genomes Database showed significant differences for almost all polymorphisms evaluated in our population. Population differentiation between the Euro- and Afro-Brazilian groups was low (FST value 0.055). However, when each locus was evaluated individually, KEL*06 and FY*02N.01 allele frequencies were significantly higher in the Afro-Brazilian group than in the Euro-Brazilian group. Ethnic classification that uses phenotypic criteria to find blood units with rare antigens may be important when there is a need to detect blood units with an absence of Duffy antigens. There is also a greater probability of finding donors in the Afro-Brazilian group. Taken together, the data indicate strong European and African contributions to the gene pool, with intense admixture.

11.
Transfus Apher Sci ; 59(4): 102768, 2020 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-32276863

RESUMO

The atypical chemokine receptor 1 gene (ACKR1) is responsible for the clinically significant Duffy blood group. The main antigens of this system, Fya and Fyb, can be related to a null or weak expression of the DARC protein. In the present work, we aimed to identify ACKR1 gene variants in blood donors from southern Brazil based on discrepancies between their serological and molecular typing results. Then, we analyzed the association of these variants with the expression of the Duffy phenotype. The Fy antigen types were determined via hemagglutination and real-time PCR (c.125 G > A, c.265C > T and c.-67T > C SNPs) tests in a sample composed of 382 regular repetitive voluntary blood donors to the Blood Bank of Hospital de Clínicas de Porto Alegre. An inconclusive correlation between phenotype-genotype analyses was found in 11 (2.88 %) donors, and the entire ACKR1 gene was sequenced in these samples. Our investigation found 11 genetic variants, four of which (c.-541C > T, c.21 + 150C > T, c.22-58A > G, and c.298 G > A SNPs) seem to have putative functional effects on the structure and expression of DARC undertaken for in silico analysis (SIFT, PolyPhen-2 and RegulomeDB). Molecular events can result in apparent discrepancies between red cell genotypes and phenotypes. Our findings provided insight into the molecular background of FY antigens to improve technical approaches for red cell genotyping.


Assuntos
Sistema do Grupo Sanguíneo Duffy/metabolismo , Receptores de Superfície Celular/metabolismo , Sequência de Bases , Brasil , Humanos , Fenótipo
12.
J Pediatr Genet ; 9(1): 58-62, 2020 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-31976146

RESUMO

Roberts syndrome is a rare autosomal recessive genetic disease. In this report, we report a Brazilian patient with a rare ESCO2 variant. The patient manifested a broad range of clinical findings including the significant, bilateral shortening of the extremities. He deteriorated and passed away at 20 days of age. High-resolution GTG-banded karyotype showed lack of centromeric constriction in some chromosomes, premature centromere separation in others, and repulsion of the heterochromatin regions. Molecular analysis of the ESCO2 gene revealed a deletion of 4 bp involving exon 4 in homozygosity (NM_00107420.2:c.875_878delACAG), which causes loss of ESCO2 function. We describe the clinical presentation caused by a rare ESCO2 variant.

13.
Nutrition ; 71: 110645, 2020 03.
Artigo em Inglês | MEDLINE | ID: mdl-31896063

RESUMO

OBJECTIVES: Lifestyle, obesity, and eating habits are emerging as determinants for the instability of telomeres. The increase in childhood and adolescent obesity and the association of biochemical profiles and dietary components with telomere length (TL) makes it an important issue in nutritional research. The aim of the present study was to investigate TL and its association with ethnic background, adiposity, clinical and biochemical parameters, and dietary patterns among Brazilian children and adolescents. METHODS: A cross-sectional study encompassing 981 children and adolescents between 7 and 17 y of age was performed. Dietary intake habits, anthropometry, and clinical data were collected. TL analysis was performed by quantitative polymerase chain reaction. RESULTS: Children presented significantly longer TL than adolescents (P = 0.046). Participants who self-declared as black, mulatto, or brown (P < 0.001) also showed longer TL than those who were white. Regarding biochemical parameters, individuals with altered glucose levels had shorter TL than normoglycemic participants in the total sample (P = 0.014). Such difference remained statistically significant in adolescents (P = 0.019). Participants who reported eating fruits and vegetables regularly had longer TL than those who did not (P < 0.001). CONCLUSION: The results suggested that both biochemical parameters and the intake of antioxidant-rich food, such as fruits and vegetables, are associated with the stability of telomere biology among young Brazilians.


Assuntos
Etnicidade/genética , Comportamento Alimentar/fisiologia , Obesidade Pediátrica/etnologia , Obesidade Pediátrica/genética , Homeostase do Telômero/genética , Adiposidade/genética , Adolescente , Antropometria , Brasil , Criança , Estudos Transversais , Dieta/efeitos adversos , Comportamento Alimentar/etnologia , Feminino , Humanos , Masculino , Telômero
14.
Eur J Med Genet ; 63(2): 103641, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-30894326

RESUMO

Holoprosencephaly is the most common brain malformation in humans and it is a complex genetic disorder. We report on a patient with holoprosencephaly caused by a rare ZIC2 mutation presenting a bifid nose associated with a nasal fistula and an epidermal cyst, besides hypernatremia. The patient was a 1 year and 4 months old girl that developed an important neuropsychomotor delay. Currently, she uses a wheelchair to move around and only emits sounds. Computed tomography (CT) scan revealed a semilobar holoprosencephaly and a Dandy-Walker variant. Head magnetic resonance imaging also disclosed corpus callosum agenesis and prefrontal subarachnoid space enlargement. On physical examination at 1 year and 4 months of age, we verified growth retardation, microcephaly, bilateral epicantic fold, upslanting palpebral fissures, bifid nose, and limbs spasticity secondary to hypertonia. Later, she began to present hypernatremia; however, its precise cause was not identified. At 6 years and 10 months of age, a nasal fistula was suspected. Facial CT scan showed an epidermal cyst at cartilaginous portion of the nasal septum. High resolution GTG-Banding karyotype was normal. However, molecular analysis through direct sequencing technique showed a mutation at regulatory region of the ZIC2 gene: c.1599*954T > A, a genetic variation previously described only in a Brazilian patient. Our patient presented findings still not reported in literature among patients with holoprosencephaly, including those with ZIC2 mutations. Thus, the spectrum of abnormalities associated to ZIC2 mutations may be broader and include other defects as those observed in our patient.


Assuntos
Cisto Epidérmico/genética , Holoprosencefalia/genética , Hipernatremia/genética , Proteínas Nucleares/genética , Mutação Puntual , Fístula do Sistema Respiratório/genética , Fatores de Transcrição/genética , Encéfalo/anormalidades , Encéfalo/diagnóstico por imagem , Cisto Epidérmico/diagnóstico , Facies , Feminino , Holoprosencefalia/diagnóstico , Humanos , Hipernatremia/diagnóstico , Lactente , Imageamento por Ressonância Magnética , Fenótipo , Fístula do Sistema Respiratório/diagnóstico , Síndrome , Tomografia Computadorizada por Raios X
15.
Obes Res Clin Pract ; 13(2): 137-142, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30713021

RESUMO

OBJECTIVE: We investigated the association of IRX3 SNP rs3751723 with anthropometric characteristics related to adiposity and potential relationships with FTO SNP rs9939609 in a population of Brazilian children and adolescents. METHODS: A total of 871 children and adolescents between 7 and 17 years of age were recruited. Adiposity measurements and biochemical parameters were assessed. The variants were genotyped by real-time PCR. Analysis of multiple linear regression, multiple logistic regression, and generalised multifactor dimensionality reduction (GMDR) adjusted for sex, age and ethnicity were applied to test the polymorphisms association with obesity-related phenotypes and the interaction between them. RESULTS: The analyses showed that IRX3 was associated with obesity and fat percentage (BF%). An association of FTO rs9939609 with body mass index (BMI) Z-Score and with waist circumference (WC) was detected. The odds ratios (OR) showed that IRX3 rs3751723 was associated with risk of obesity in additive model (p=0.017), recessive model (p=0.016) and with high BF% in all models. FTO rs9939609 was associated with risk of obesity in additive model (p=0.031), recessive (p=0.033) and with altered WC in all models. GMDR-based predictive models for the risk of obesity, altered WC and high BF% adjusted by age, ethnicity and sex suggested no interaction of the two loci. CONCLUSIONS: The genetic variants rs3751723 and rs9939609 have an influence on the characteristics of adiposity; however, the effects of IRX3 and FTO investigated polymorphisms are independent in relation to adiposity parameters.


Assuntos
Adiposidade/genética , Predisposição Genética para Doença/epidemiologia , Obesidade Pediátrica/genética , Adolescente , Dioxigenase FTO Dependente de alfa-Cetoglutarato , Índice de Massa Corporal , Brasil/epidemiologia , Criança , Estudos Transversais , Feminino , Predisposição Genética para Doença/genética , Variação Genética , Proteínas de Homeodomínio , Humanos , Masculino , Obesidade Pediátrica/epidemiologia , Reação em Cadeia da Polimerase em Tempo Real , Fatores de Transcrição
16.
Br J Nutr ; 121(1): 93-99, 2019 01.
Artigo em Inglês | MEDLINE | ID: mdl-30311592

RESUMO

The prevalence of childhood obesity has increased worldwide. Although it is considered a polygenic inheritance disease, little is known about its susceptibility when the additive effect is considered. The aim of this study is to investigate whether the genetic risk score (GRS) based on previously associated obesity polymorphisms (SNP) rs9939609 (fat mass and obesity-associated (FTO)), rs6548238 (transmembrane protein 18 (TMEM18)) and rs16835198 (fibronectin type III domain containing 5 (FNDC5)) could serve as a predictor for anthropometric characteristics in a sample of Brazilian children and adolescents. This is a cross-sectional study with 1471 children and adolescents aged 6-17 years. BMI, waist circumference (WC) and percentage of body fat and metabolic parameters were verified. In all, three SNP were genotyped by TaqMan™ allelic discrimination. The metabolic and anthropometric parameters were compared between the genotypes, and the unweighted and weighted GRS (GRS and wGRS, respectively) were created to test the additive effect of these genetic polymorphisms on anthropometric parameters. The prevalence of overweight plus obesity was 41 %. Significant associations were identified for FTO rs9939609, TMEM18 rs6548238 and FNDC5 rs16835198 and for GRS and wGRS with anthropometric phenotypes. The higher score of wGRS was associated with obesity (OR: 2·65, 95 % CI 1·40, 5·04, P=0·003) and with greater WC (OR: 2·91, 95 % CI 1·57, 5·40, P=0·001). Our results suggest that these genetic variants contribute to obesity susceptibility in children and adolescents and reinforce the idea that the additive effect may be useful to elucidate the genetic component of obesity.


Assuntos
Dioxigenase FTO Dependente de alfa-Cetoglutarato/genética , Fibronectinas/genética , Predisposição Genética para Doença/genética , Proteínas de Membrana/genética , Obesidade Pediátrica/genética , Adolescente , Antropometria , Composição Corporal/genética , Índice de Massa Corporal , Brasil/epidemiologia , Criança , Feminino , Genótipo , Humanos , Masculino , Obesidade Pediátrica/epidemiologia , Polimorfismo de Nucleotídeo Único/genética , Circunferência da Cintura/genética
17.
Neurosci Lett ; 666: 32-37, 2018 02 14.
Artigo em Inglês | MEDLINE | ID: mdl-29246792

RESUMO

It is well established that healthy aging, mild cognitive impairment (MCI), and Alzheimer's disease (AD) are associated with substantial declines in episodic memory. However, there is still debate about the roles of GPX1 and GPX4 polymorphisms. The aim of this study was to investigate the association of rs1050450 and rs713041 polymorphisms with memory. This research was composed of a cross-sectional study (334 subjects) and a case-control study (108 healthy controls and 103 with AD-NINCDS/ARDA, DSM-IV-TR criteria). For the association of the genetic polymorphisms with memory or cognitive loss, the phenotypes were analyzed as follows: 1) each memory as a quantitative trait; 2) presence of deficit on a specific memory; 3) presence of MCI; 4) presence of AD. To assess verbal learning and the ability to store new information, we used the Rey Verbal Learning Test. Scores were recorded as a function of age as in the WMS-R testing battery. DNA was obtained from whole blood, and genotypes for GPX1 (rs1050450) and GPX4 (rs713041) were detected by allelic discrimination assay using TaqMan® MGB probes on a real-time PCR system. GPX1 TT homozygotes had lower long-term visual memory scores than CC/CT group (-0.28 ±â€¯1.03 vs. 0.13 ±â€¯1.03, respectively, p = 0.017). For the GPX4 rs713041, the frequency of the TT genotype was higher in the group with normal scores than in the group with long-term visual memory deficits (p = 0.025). In a multivariate logistic regression, GPX1 CC homozygotes had a 2.85 higher chance of developing AD (OR = 2.85, CI95% = 1.04-7.78, p = 0.041) in comparison to the reference genotype. No significant differences were observed regarding the MCI group between genetic variants. This study is one of the first to show that polymorphisms in GPX1 and GPX4 are significantly associated with episodic memory and AD in a South Brazilian population.


Assuntos
Doença de Alzheimer/genética , Disfunção Cognitiva/genética , Glutationa Peroxidase/genética , Polimorfismo Genético/genética , Adulto , Idoso , Idoso de 80 Anos ou mais , Disfunção Cognitiva/complicações , Estudos Transversais , Feminino , Genótipo , Humanos , Masculino , Memória Episódica , Pessoa de Meia-Idade , Fosfolipídeo Hidroperóxido Glutationa Peroxidase , Aprendizagem Verbal , Glutationa Peroxidase GPX1
18.
Blood Transfus ; 16(1): 93-100, 2018 01.
Artigo em Inglês | MEDLINE | ID: mdl-28151395

RESUMO

ACKR1, located on chromosome 1q23.2, is the gene that encodes a glycoprotein expressing the Duffy blood group antigens. This gene is transcribed in two mRNA variants yielding two isoforms, encoding proteins with 338 and 336 amino acids. This review provides a general overview of the Duffy blood group to characterise and elucidate the genetic basis of this system. The Fya and Fyb antigens are encoded by co-dominant FY*A (FY*01) and FY*B (FY*02) alleles, which differ by c.125G>A (rs12075), defining the Fy(a+b-), Fy(a-b+) and Fy(a+b+) phenotypes. The Fy(a-b-) phenotype that occurs in Africans provides an explanation for the apparent absence of Plasmodium vivax in this region: this phenotype arises from homozygosity for the FY*B allele carrying a point mutation c.1-67T>C (rs2814778), which prevents Fyb antigen expression only in red blood cells. The same mutation has also been found on the FY*A allele, but it is very rare. The Fy(a-b-) phenotype in Europeans and Asians arises from mutations in the coding region of the FY*A or FY*B allele, preventing Duffy antigen expression on any cell in the body and thus are true Duffy null phenotypes. According to the International Society for Blood Transfusion, ten alleles are associated with the null expression of the Fy antigens. Furthermore, different allelic forms of FY*B modify Fyb antigen expression, which may result in very weak or equivocal serology results. The mostly common found variants, c.265C>T (rs34599082) and c.298G>A (rs13962) -previously defined in combination only with the FY*B allele - have already been observed in the FY*A allele. Thus, six alleles have been recognised and associated with weak expression of the Fy antigens. Considering the importance of the Duffy blood group system in clinical medicine, additional studies via molecular biology approaches must be performed to resolve and clarify the discrepant results that are present in the erythrocyte phenotyping.


Assuntos
Alelos , Cromossomos Humanos Par 1/genética , Sistema do Grupo Sanguíneo Duffy , Regulação da Expressão Gênica , Homozigoto , Mutação Puntual , Cromossomos Humanos Par 1/metabolismo , Sistema do Grupo Sanguíneo Duffy/biossíntese , Sistema do Grupo Sanguíneo Duffy/genética , Humanos
19.
Trends Psychol ; 25(4): 1829-1836, out.-dez. 2017. tab
Artigo em Inglês | LILACS | ID: biblio-904532

RESUMO

Abstract Objective: To analyze the memory performance of participants aged 60 years and older with and without depressive symptoms. Methods: 199 participants were assessed using the Beck Depressio. In ventory (BDI) with a cut-off point of 20 for depression. Of these, 22 met the criteria for depression group; the remaining participants were allocated to the non-depression group. The Rey Auditory-Verbal Learning Test (RAVLT) was used to assess verbal learning, figures I and II of the Visual Reproduction subtest of the Wechsler Memory Scale Revised (WMS-R) was used to evaluate immediate and delayed visual memory, and the Logical Memory subtests I and II of WMS-R were used to test verbal memory. Results: The average scores for verbal learning in the depression group were significantly lower than those in the non-depression group (p = .001). There were no group differences on visual and logical memory I and II scales. Conclusion: Depressive symptoms affect information retention and verbal learning in the elderly. However, they had no effect on visual and logical memory processing in this sample. The results suggest that, in addition to age-related cognitive decline, depression impairs memory performance considerably.


Resumo Objetivo: analisar o desempenho de memória de participantes com 60 anos ou mais de idade, apresentando ou não sintomas de depressão. Métodos: 199 participantes foram examinados através d. In ventário de Depressão de Beck (BDI) com ponto de corte em 20 pontos para depressão. 22 participantes atingiram o critério para inclusão no grupo de depressão e o restante foi alocado no grupo sem depressão. Os testes utilizados foram: Rey Auditory-Verbal Learning Test (RAVLT) para avaliar aprendizagem verbal, teste de reprodução de figuras I e II da Escala Wechsler Revisada (WMS-R) para memória visual imediata e duradoura e teste de memória lógica I e II da WMS-R para memória verbal. Resultados: os escores médios para aprendizagem verbal no grupo com depressão foram significativamente mais baixos do que no grupo sem depressão (p= 0,001). Não ocorreram diferenças significativas entre os grupos nas escalas para memória visual ou lógica I e II. Conclusões: sintomas de depressão afetam a retenção de informação e a aprendizagem verbal em idosos. Entretanto, não parecem afetar o processamento das memórias visual e lógica. Os resultados sugerem que, além do declínio cognitivo devido ao envelhecimento, a presença de depressão afeta e empobrece o desempenho de memória.


Resumen Objectivo: Analizar el rendimiento de la memoria de participantes con mas de 60 anos con sintomas de depresion. Metodos: 199 participantes fueron examinados a traves de. In ventario de Depresion de Beck (BDI), tomando en consideracion acima de 20 puntos para la depresion. 22 participantes alcanzaron el criterio de inclusion en el grupo de depresion y lo restante fue colocado en el grupo sin depresion. Las pruebas utilizadas fueron: Rey Auditory-Verbal Learning Test para evaluar el aprendizaje verbal; Prueba de Reproduccion de Figuras I y II de Wechsler Memory Scale (WMS-R) para memoria inmediata y duradera, memoria visual y logica de ensayo I y II de la WMS-R para memoria verbal. Resultados: La aprendizaje verbal en el grupo con depresion fue abajo que en el grupo sin depresion (p = .001). No hubo diferencias significativas entre los grupos en las escalas para memoria I y II visual y logica. Conclusiones: La depresion afecta la retencion de informacion y aprendizaje verbal en los ancianos pero no parece afectar el procesamiento de los recuerdos visuales y logicos. Los resultados sugieren que, ademas de deterioro cognitivo debido al envejecimiento, afecta a la presencia de depresion y el rendimiento de la memoria se vuelve pobre.

20.
Rev Soc Bras Med Trop ; 50(2): 251-255, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28562765

RESUMO

INTRODUCTION:: This study evaluated leprosy rates in Rio Grande do Sul, an area with a historically low prevalence. However, recent studies are lacking. METHODS:: Data extracted from a National Database were analyzed for clinical features and compared to 1980s data. Tendency was assessed via stationarity analysis. RESULTS:: Between 1990 and 2011, 4,770 cases were reported (0.21/10,000 inhabitants; 95% CI = 0.19-0.24). Detection was slightly higher among males, 1.9% cases were among children and most multibacillary (74.7%) at diagnosis. CONCLUSIONS:: Leprosy is controlled in RS, but most cases are multibacillary. Early identification is important to avoid disabilities due to late diagnosis.


Assuntos
Hanseníase/epidemiologia , Adolescente , Adulto , Brasil/epidemiologia , Criança , Pré-Escolar , Feminino , Humanos , Incidência , Lactente , Recém-Nascido , Masculino , Prevalência
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