Polymorphism of the angiotensin converting enzyme gene (ACE-I/D) differentiates the aerobic and speed performance of football players.

BACKGROUND: The aim of this study was to evaluate the distribution of ACE-I/D polymorphisms on Brazilian football players performance in aerobic capacity, strength and speed tests. METHODS: The participants in this study were 212 Brazilian first division male football players genotyped in DD, ID or II. Genotyping of DNA from leucocytes was performed using polymerase chain reaction and restriction fragment length polymorphism methods. We evaluated speed using a 30-meter sprint test with speed measured at 10 meters (V10), 20 meters (V20), and 30 meters (V30); muscular strength using counter-movement-jump and squat jump tests; and aerobic endurance using the Yo-Yo endurance test. The athletes were ranked in ascending order according to their performance in each test and divided into quartiles: first quartile (0-25%, weak), second (25-50%, normal), third (50-75%, good), and fourth (75-100%, excellent); these were clustered according to genotype frequency. RESULTS: We identified significant differences in the V20 test values and in the aerobic capacity test. Higher frequencies of the ACE-DD genotype were observed in the excellent performance group in the V20. In the aerobic capacity test, higher frequencies of the ACE-II genotype were observed in excellent and good performance groups. CONCLUSIONS: Players with higher performance in anaerobic and aerobic tests are ACE-DD and ACE-II genotypes, respectively.

Recurrent wheezing in preterm infants: Prevalence and risk factors / Sibilância recorrente em prematuros: prevalência e fatores de risco

ABSTRACT Objective: To evaluate the prevalence and risk factors associated with progression to recurrent wheezing in preterm infants. Methods: The cross-sectional study was carried out in 2014 and 2015 and analyzed preterm infants born between 2011 and 2012. The search for these children was performed in a university maternity hospital and a Special Immunobiological Reference Center. The evaluation was performed through a questionnaire applied during a telephone interview. Results: The study included 445 children aged 39 (18-54) months. In the univariate analysis, the risk factors with the greatest chance of recurrent wheezing were birth weight <1000 g, gestational age <28 weeks, living with two or more siblings, food allergy, and atopic dermatitis in the child, as well as food allergy and asthma in the parents. In the multivariate analysis, there was a significant association between recurrent wheezing and gestational age at birth <28 weeks, food allergy and atopic dermatitis in the child, and living with two or more children. Of the 445 analyzed subjects, 194 received passive immunization against the respiratory syncytial virus, and 251 preterm infants were not immunized. There was a difference between the gestational age of these subgroups (p < 0.001). The overall prevalence of recurrent wheezing was 27.4% (95% CI: 23.42-31.70), whereas in the children who received passive immunization it was 36.1% (95% CI: 29.55-43.03). Conclusions: Personal history of atopy, lower gestational age, and living with two or more children had a significant association with recurrent wheezing. Children with lower gestational age who received passive immunization against the respiratory syncytial virus had a higher prevalence of recurrent wheezing than the group with higher gestational age.

RESUMO Objetivo: Avaliar a prevalência e os fatores de risco associados à evolução para sibilância recorrente em prematuros. Métodos: O estudo transversal foi feito em 2014 e 2015 e analisou crianças prematuras nascidas entre 2011 e 2012. A busca dessas crianças foi feita em maternidade de hospital universitário e em um Centro de Referência para Imunobiológicos Especiais. A avaliação foi feita por questionário dirigido em entrevista telefônica. Resultados: O estudo incluiu 445 crianças com 39 (18-54) meses de vida. Na análise univariada, os fatores de risco com maior chance de sibilância recorrente foram peso de nascimento menor do que 1.000 g, idade gestacional menor do que 28 semanas, convivência com dois ou mais irmãos, alergia alimentar e dermatite atópica na criança e alergia alimentar e asma nos pais. Na análise multivariada houve associação significativa entre sibilância recorrente e idade gestacional ao nascer menor do que 28 semanas, alergia alimentar e dermatite atópica na criança e a convivência com duas ou mais crianças. Dos 445 sujeitos analisados, 194 receberam imunização passiva contra vírus sincicial respiratório e 251 eram prematuros não imunizados. Houve diferença entre a idade gestacional desses subgrupos (p < 0,001). A prevalência geral de sibilância recorrente foi 27,4% (IC 95%: 23,42-31,70) e nas crianças que receberam a imunização passiva foi 36,1% (IC 95%: 29,55-43,03). Conclusões: História pessoal de atopia, menor idade gestacional e convivência com duas ou mais crianças apresentaram associação significativa com sibilância recorrente. As crianças com menor idade gestacional, que receberam a imunização passiva contra o vírus sincicial respiratório, apresentaram maior prevalência de sibilância recorrente que o grupo de maior idade gestacional.

Recurrent wheezing in preterm infants: Prevalence and risk factors.

OBJECTIVE: To evaluate the prevalence and risk factors associated with progression to recurrent wheezing in preterm infants. METHODS: The cross-sectional study was carried out in 2014 and 2015 and analyzed preterm infants born between 2011 and 2012. The search for these children was performed in a university maternity hospital and a Special Immunobiological Reference Center. The evaluation was performed through a questionnaire applied during a telephone interview. RESULTS: The study included 445 children aged 39 (18-54) months. In the univariate analysis, the risk factors with the greatest chance of recurrent wheezing were birth weight <1000g, gestational age <28 weeks, living with two or more siblings, food allergy, and atopic dermatitis in the child, as well as food allergy and asthma in the parents. In the multivariate analysis, there was a significant association between recurrent wheezing and gestational age at birth <28 weeks, food allergy and atopic dermatitis in the child, and living with two or more children. Of the 445 analyzed subjects, 194 received passive immunization against the respiratory syncytial virus, and 251 preterm infants were not immunized. There was a difference between the gestational age of these subgroups (p<0.001). The overall prevalence of recurrent wheezing was 27.4% (95% CI: 23.42-31.70), whereas in the children who received passive immunization it was 36.1% (95% CI: 29.55-43.03). CONCLUSIONS: Personal history of atopy, lower gestational age, and living with two or more children had a significant association with recurrent wheezing. Children with lower gestational age who received passive immunization against the respiratory syncytial virus had a higher prevalence of recurrent wheezing than the group with higher gestational age.

Alpha-Actinin-3 R577X Polymorphism Influences Muscle Damage and Hormonal Responses After a Soccer Game.

Coelho, DB, Pimenta, EM, Rosse, IC, Veneroso, C, Pussieldi, GDA, Becker, LK, De Oliveira, EC, Carvalho, MRS, and Silami-Garcia, E. Alpha-actinin-3 R577X polymorphism influences muscle damage and hormonal responses after a soccer game. J Strength Cond Res 33(10): 2655-2664, 2019-The purpose of this study was to evaluate indicators of muscle damage and hormonal responses after soccer matches and its relation to alpha-actinin-3 (ACTN3) gene expression (XX vs. RR/RX), considering that the R allele produces alpha-actinin-3 and provides greater muscle strength and power. Thirty players (10 XX and 20 RR/RX) younger than 16 years were evaluated in this study. Blood samples were collected immediately before, after, 2, and 4 hours after the games to assess muscle damage (creatine kinase [CK] and alpha-actin) and hormonal responses (interleukin-6 [IL-6], cortisol, and testosterone). Postgame CK was higher as compared to the pregame values in both groups and it was also higher in the RR/RX (p < 0.05) than in the XX. The concentrations of alpha-actin and IL-6 were similar for both groups and did not change over time. Testosterone was increased after the game only in the RR/RX group (p < 0.05). Cortisol concentrations in group RR/RX were higher immediately after the game than before the game, and 2 and 4 hours after the game the concentration decreased (p < 0.05). The RR and RX individuals presented higher markers of muscle microtrauma and hormonal stress, probably because they performed more speed and power actions during the game, which is a self-regulated activity. From the different responses presented by RR/RX and XX genotypes, we conclude that the genotypic profile should be taken into account when planning training workloads and recovery of athletes.

Correction: Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients.

[This corrects the article DOI: 10.1371/journal.pone.0177503.].

Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients.

INTRODUCTION: The association between the BTD genotype and biochemical phenotype [profound biotinidase deficiency (BD), partial BD or heterozygous activity] is not always consistent. This study aimed to investigate the genotype-biochemical phenotype association in patients with low biotinidase activity. METHODS: All exons, the 5'UTR and the promoter of the BTD gene were sequenced in 72 Brazilian individuals who exhibited low biotinidase activity. For each patient, the expected biochemical phenotype based on the known genotype was compared with the observed biochemical phenotype. Additional non-genetic factors that could affect the biotinidase activity were also analysed. RESULTS: Most individuals were identified by neonatal screening (n = 66/72). When consecutive results for the same patient were compared, age, prematurity and neonatal jaundice appeared to affect the level of biotinidase activity. The biochemical phenotype at the time of the second blood collection changed in 11/22 patients compared to results from the first sample. Three novel variants were found: c.1337T>C (p.L446P), c.1466A>G (p.N489S) and c.962G>A (p.W321*). Some patients with the same genotype presented different biochemical phenotypes. The expected and observed biochemical phenotypes agreed in 68.5% of cases (concordant patients). The non-coding variants c.-183G>A, c.-315A>G and c.-514C>T were present in heterozygosis in 5/17 discordant patients. In addition, c.-183G>A and c.-514C>T were also present in 10/37 concordant patients. CONCLUSIONS: The variants found in the promoter region do not appear to have a strong impact on biotinidase activity. Since there is a disparity between the BTD genotype and biochemical phenotype, and biotinidase activity may be affected by both genetic and non-genetic factors, we suggest that the diagnosis of BD should be based on more than one measurement of plasma biotinidase activity. DNA analysis can be of additional relevance to differentiate between partial BD and heterozygosity.

The alpha-actinin-3 r577x polymorphism and physical performance in soccer players.

BACKGROUND: The aim of this study was to investigate the association between ACTN3 genotype (RR, RX, and XX) and physical performance of 138 adult, professional, U-20 and U-17 years Brazilian first-division soccer players. METHODS: The following three parameters were investigated: first, speed, using a 30-meter sprint test with speed measured at 10 meters, 20 meters, and 30 meters; second, muscular strength, using counter-movement-jump and squat jump tests; and third, aerobic endurance using the Yo-Yo endurance test. The athletes were ranked in ascending order according to their performance in each test. After which they were divided into quartiles and clustered according to genotype and allele frequency. The χ2 was used to compare the genotype frequencies (RR, RX and RR) and allele frequencies (R and X) within and between the different quartiles of performance rating. RESULTS: No significant differences were observed in genotypic or allelic frequencies between different performance ratings. The ACTN3 genotype was not associated to any of the physical performance parameters. CONCLUSIONS: Our study provides no ervidence for an assocviation between alpha-actinin-3 R577x genotypes and differences in physical performance in adult, professional, U-20 and U-17 years Brazilian first-division soccer players.

Impaired acuity of the approximate number system in 22q11.2 microdeletion syndrome

A magnitude comparison deficit has been frequently observed in velocardiofacial syndrome (Del22q11.2). We hypothesized that this deficit extends to impairments in the acuity of the approximate number system (ANS). Three groups of children aged 8-14 years were investigated: Del22q11.2 children (n = 12), low cognitive ability children (LCA; n = 12), and matched typically developing children (TD; n = 28). All children were assessed with a simple reaction time task and symbolic and nonsymbolic number comparison tasks. To estimate the acuity of the ANS, the Weber fraction (w) was calculated from the nonsymbolic comparison task. The Del22q11.2 group exhibited a significantly higher w compared with the other groups. Importantly, no significant differences were found in w between the TD and LCA groups. The performance pattern of the Del22q11.2 group was similar to the TD group in the symbolic comparison task, and both of these groups had better performance than the LCA group. The impairment of ANS acuity observed in individuals with Del22q11.2 cannot be explained by deficits in general processing speed because no significant group differences were found in the simple reaction time task. These results suggest that lower acuity of the ANS should be added to the behavioral phenotype of Del22q11.2. The absence of impaired ANS acuity in the LCA group is consistent with the hypothesis that number sense is a relatively specific and autonomous domain. Investigations of low ANS acuity in mathematics learning difficulties and Del22q11.2 should be intensified...

Impaired acuity of the approximate number system in 22q11.2 microdeletion syndrome

A magnitude comparison deficit has been frequently observed in velocardiofacial syndrome (Del22q11.2). We hypothesized that this deficit extends to impairments in the acuity of the approximate number system (ANS). Three groups of children aged 8-14 years were investigated: Del22q11.2 children (n = 12), low cognitive ability children (LCA; n = 12), and matched typically developing children (TD; n = 28). All children were assessed with a simple reaction time task and symbolic and nonsymbolic number comparison tasks. To estimate the acuity of the ANS, the Weber fraction (w) was calculated from the nonsymbolic comparison task. The Del22q11.2 group exhibited a significantly higher w compared with the other groups. Importantly, no significant differences were found in w between the TD and LCA groups. The performance pattern of the Del22q11.2 group was similar to the TD group in the symbolic comparison task, and both of these groups had better performance than the LCA group. The impairment of ANS acuity observed in individuals with Del22q11.2 cannot be explained by deficits in general processing speed because no significant group differences were found in the simple reaction time task. These results suggest that lower acuity of the ANS should be added to the behavioral phenotype of Del22q11.2. The absence of impaired ANS acuity in the LCA group is consistent with the hypothesis that number sense is a relatively specific and autonomous domain. Investigations of low ANS acuity in mathematics learning difficulties and Del22q11.2 should be intensified.(AU)

Count on dopamine: influences of COMT polymorphisms on numerical cognition.

Catechol-O-methyltransferase (COMT) is an enzyme that is particularly important for the metabolism of dopamine. Functional polymorphisms of COMT have been implicated in working memory and numerical cognition. This is an exploratory study that aims at investigating associations between COMT polymorphisms, working memory, and numerical cognition. Elementary school children from 2th to 6th grades were divided into two groups according to their COMT val158met polymorphism [homozygous for valine allele (n = 61) vs. heterozygous plus methionine homozygous children or met+ group (n = 94)]. Both groups were matched for age and intelligence. Working memory was assessed through digit span and Corsi blocks. Symbolic numerical processing was assessed through transcoding and single-digit word problem tasks. Non-symbolic magnitude comparison and estimation tasks were used to assess number sense. Between-group differences were found in symbolic and non-symbolic numerical tasks, but not in working memory tasks. Children in the met+ group showed better performance in all numerical tasks while val homozygous children presented slower development of non-symbolic magnitude representations. These results suggest COMT-related dopaminergic modulation may be related not only to working memory, as found in previous studies, but also to the development of magnitude processing and magnitude representations.

Small mammals as hosts of Leishmania spp. in a highly endemic area for zoonotic leishmaniasis in North-Eastern Brazil.

BACKGROUND: Leishmania parasites cause leishmaniasis in humans and animals worldwide. These parasites are transmitted by phlebotomine sand flies, which become infected upon feeding on an infected mammalian host. We assessed the occurrence of Leishmania infection in small mammals in an area of cutaneous and visceral leishmaniasis endemicity. METHODS: A total of 180 small mammals were trapped in 2003 and 2006 in a rural area in north-eastern Brazil. Spleen and skin samples from these animals were assessed by two PCR protocols, one targeting Leishmania (Viannia) spp. and other Leishmania (Leishmania) infantum. Additionally, serum samples were tested by an immunochromatographic test with rK39 as antigen. RESULTS: Overall, 23.2% (38/164) of the animals were positive to L. (V.) spp. and 8.8% (14/160) to L. (L.) infantum). Five animals of four species (Didelphis albiventris, Nectomys squamipes, Rattus rattus and Holochilus sciureus) were positive by both PCR protocols, an overall co-infection rate of 2.5%. By serology, 5% (7/139) of the animals were positive, but all of them were PCR-negative. An isolate obtained from a water rat (N. squamipes) was characterized as L. (V.) braziliensis (zymodeme Z-74). CONCLUSIONS: This study reinforces the involvement of different small mammals (e.g., N. squamipes, R. rattus and H. scieurus) in the transmission cycles of L. (V.) braziliensis and L. (L.) infantum in north-eastern Brazil. The finding of L. (V.) braziliensis infection in black rats suggests a rapid process of adaptation of a New World Leishmania species to an Old World rodent and raises interesting questions regarding the co-evolution of these parasites and their vertebrate hosts.

Effect of ACTN3 gene on strength and endurance in soccer players.

Sports efficiency in activities in which strength and speed are the determining factors has been associated to the ACTN3 gene, which is responsible for the expression of α-actinin-3. Soccer is a mainly aerobic sport because of its long duration, but the acute actions that define the game demand a lot of strength and speed. The purpose of the present study was to compare the performance capacity of soccer players with different genotype groups of ACTN3 (XX, RX, and RR) in strength, speed, and endurance tests. Two hundred professional players of Brazilian soccer first division teams participated in this study. Speed, jump, and endurance test results were compared with the polymorphisms of the ACTN3 gene. It was noticed that RR individuals spent less time to run a 10-m path, compared with XX individuals (p < 0.05). The RR individuals also presented lower time rates at the 20- and 30-m path, compared with RX and XX individuals (p < 0.05). In jump tests, RR individuals presented higher rates, compared with RX and XX individuals (p < 0.05). As for aerobic tests, the XX individuals presented higher rates of V[Combining Dot Above]O2 max, compared with the RR group (p < 0.05), and did not differ from the RX group. The main conclusion of this study is that soccer players of genotype ACTN3/RR are the fastest in short distances and present higher jump potential. ACTN3/XX individuals presented the highest aerobic capacity. These findings can be used in training load adjustment and can influence the development of tactical schemes in soccer matches.

Serum concentrations of rifampin, isoniazid, and intestinal absorption, permeability in patients with multidrug resistant tuberculosis.

This study evaluates the serum concentrations of rifampin (RMP), isoniazid (INH), and intestinal barrier function in patients with multidrug-resistant tuberculosis (MDR-TB), drug susceptible tuberculosis (DS-TB), and health volunteers (HC; controls). Peak serum concentrations of RMP were significantly lower in MDR-TB and DS-TB as compared with HC (odds ratio [OR] = 3.125, confidence interval [CI] [1.037-9.418] and OR = 4.025, CI [1.207-13.418], respectively). The INH peak serum concentration was not significantly different between MDR-TB versus DS-TB or DS-TB versus HC. The percent of mannitol excretion was significantly lower in the MDR-TB group compared with DS-TB (13.18 versus 16.03, analysis of covariance [ANCOVA], P = 0.0369) and compared with HC (13.18 versus 16.61, ANCOVA, P = 0.0291) the other study groups. These data suggested a lower peak serum concentration of RMP for both MDR-TB and DS-TB as compared with the HC group. The data also showed a lower intestinal area of absorption in patients with tuberculosis and even worse in MDR-TB.

Nevo melânico intradérmico do meato auditivo externo / Intradermal melanocytic nevus of the external auditory canal

Muito comuns, os nevos intradérmicos constituem um tumor cutâneo pigmentado benigno. Seu aparecimento no meato auditivo externo é inabitual. Os aspectos clínicos e histopatológicos dos nevos intradérmicos dentro do meato auditivo externo são apresentados e a literatura é revisada.

Intradermal melanocytic nevus of the external auditory canal.

Intradermal nevi are common benign pigmented skin tumors. Their occurrence within the external auditory canal is uncommon. The clinical and pathologic features of an intradermal nevus arising within the external auditory canal are presented, and the literature reviewed.