Evaluation of microsatellite allelic patterns to DNA fingerprinting in rubber tree clones

The rubber tree (Hevea brasiliensis) is native to the Amazon region, and it is widely exploited due to natural rubber produced from latex. There are many clonal varieties, without certification tests. In order to determine a genetic certification, 15 clones were genotyped to identify their genetic pattern. Ten microsatellites were used to determine a subset of alleles exclusive for each genetic profile. The genetic estimates obtained were: number of alleles per locus (N), expected (HE) and observed (HO) heterozygosity, Polymorphic Information Content (PIC) and Discriminatory Power (DP). The number of alleles (N) ranged from five to 14, with an average of 9.2. The HE mean (0.80) was higher than HO (0.60), indicating a selection for homozygotes. The locus informativeness was verified with PIC (0.77) and DP (0.90) means showing high polymorphism. The dendrogram represented the formation of three groups related to geographical origin. Clone MDF 180 presented the highest genetic divergence. Two genic pools represented the genetic composition of genotypes. Based on allelic profiles, a set of two microsatellites (A2365 and A2368) was able to distinguish all examined clones. The genetic certification using microsatellite fingerprinting proved to be an alternative to morphological traits.

Trazas de ADN y su implicancia en la obtención de perfiles genéticos: revisión bibliográfica / Trace DNA and its implication in obtaining genetic profiles: bibliographic review

Introducción: El aumento en la sensibilidad de las técnicas empleadas ha permitido la obtención de perfiles genéticos a partir de trazas de ADN que se hayan depositado mediante contacto antes, durante o después de la comisión de los hechos investigados. Por otro lado, la contaminación accidental de los indicios biológicos, con la consecuente interpretación errónea de los resultados genéticos, tienen importantes consecuencias en el proceso judicial. Debido a ello, minimizar las contaminaciones que se pueden generar durante algunas de las fases de recolección o análisis genético, como así también la detección de estos eventos, es una prioridad para los laboratorios forenses. Objetivo: analizar las publicaciones más relevantes respecto a las trazas de ADN, los diferentes tipos de transferencia y contaminación que se pueden obtener en una evidencia. Metodología: se realizó la búsqueda en PubMed, del Instituto Nacional de Salud (NIH), y Google Académico usando las palabras clave en español e inglés: ADN de toque, Transferencia de ADN, Contaminación, Trazas, DNA-TTPR, Persistencia del ADN, Perfiles genéticos contaminados. Resultados: se encontraron más de 500 trabajos relacionados a la temática propuesta en esta revisión. El criterio de selección fue el número de citas, el enfoque y el impacto de estos. Se analizaron 71 artículos donde evaluaron la composición de las muestras de contacto y el origen del material genético que contienen. Además, de las metodologías de recolección, análisis de dichas muestras, la importancia que tiene la transferencia y contaminación del ADN en distintos escenarios posibles. Conclusión: existe riesgo de transferencia de ADN que puede conducir a resultados erróneos, por lo tanto es importante asegurar la actualización de los procedimientos de la práctica y brindar la capacitación adecuada para garantizar que el personal policial y del que recolecta indicios sea consciente de los riesgos de contaminación y de los diferentes mecanismos de transferencia de material genético...(AU)

Profil épidémiologique des urgences chirurgicales viscérales pédiatriques au Centre Hospitalier Universitaire de Libreville / Epidemiological profile of pediatric visceral surgical emergencies at the Libreville University Hospital Center

Objectif : Etudier les urgences chirurgicales viscérales pédiatriques au Centre Hospitalier Universitaire de Libreville (CHUL).Patients et méthodes : Il s'agissait d'une étude prospective transversale monocentrique descriptive réalisée au CHUL du 1er janvier 2018 au 30 juin 2019. Les patients âgés de 0 à 15 ans ayant présenté une urgence chirurgicale viscérale dans les services des urgences, chirurgie viscérale et thoracique et de réanimation néonatale et néonatalogie ont été inclus.Résultats : Cette étude portait sur 156 patients. L'âge moyen était de 6,67 ans avec une prédominance du sexe masculin (107/49). Quarante-deux patients étaient référés d'autres structures sanitaires. La symptomatologie évoluait depuis plus de 3 jours chez 42,3% patients. Des explorations à visée diagnostique étaient réalisées dans 145 cas, dont 90 échographies, 51 radiographies de l'abdomen sans préparation et 4 TDM. Le délai de prise en charge était de plus de 6 heures dans 82,1% cas. La pathologie la plus rencontrée était l'appendicite aigue (53 cas). Nous avions répertorié 9 décès dont 7 en post-opératoire. La durée moyenne d'hospitalisation était de 7 jours avec des extrêmes de 3 et 54 jours.Conclusion : Les urgences chirurgicales viscérales occupent une place de choix dans la pathologie chirurgicale en général et chez l'enfant en particulier. La mortalité concerne majoritairement les nouveau-nés porteurs de malformations congénitales.

Objective: To study pediatric visceral surgical emergencies at the Center Hospitalier Universitaire de Libreville (CHUL).Patients and methods: This was a descriptive single-center cross-sectional prospective study carried out at the CHUL from January 1, 2018 to June 30, 2019. Patients aged 0 to 15 years having presented a visceral surgical emergency in the emergency departments, surgery visceral and thoracic and neonatal resuscitation and neonatology were included. Results: This study involved 156 patients. The average age is 6.67 years with a predominance of the male sex (107/49).Forty-two patients were referred from other health facilities. Symptoms have evolved for more than 3 days in 42.3% of patients. Diagnostic scans were performed in 145 cases, including 90 ultrasounds and 51 unprepared abdominal xrays and 4 CT scans. The time to treatment was more than 6 hours in 82.1% of cases. The most common pathology was acute appendicitis (53 cases). We have identified 9 deaths, including 7 postoperative. The average length of hospital stay was 7 days with extremes of 3 and 54 days. Conclusion: Visceral surgical emergencies occupy a prominent place in surgical pathology in general and in children in particular. Mortality mainly concerns newborns with congenital malformations.

Profil clinique et évolutif des patients atteints du COVID-19 à Libreville étude rétrospective et mono-centrique / Clinical and evolutionary profile of patients with COVID-19 in Libreville: A Retrospective Cohort study

Introduction : L'étude clinique des patients infectés par le SARS-CoV2 est nécessaire pour la mise en œuvre des mesures préventives de lutte contre la COVID-19. L'objectif de l'étude a été de déterminer le profil clinique et évolutif des patients Covid-19 au CHU de Libreville.Méthodes : Il s'agit d'une étude rétrospective à viser analytique menée en secteur d'infectiologie COVID du SICOV du CHU de Libreville sur une période d'activité allant du 15 mars au 30 juin. La régression logistique univariée et multivariée pour explorer les facteurs de risque associés à la mortalité au SICOV a été utilisée. Résultats : Au total 441 patients COVID-19 étaient inclus dans l'étude, parmi lesquels 398 survivants (90,2%) et 43 décédés (9,8%). La population de moins de 65 ans représentait 88,0% de l'effectif. Le sex-ratio était de 1,34. Par rapport aux 398 survivants, les 43 patients décédés étaient significativement plus âgés (âge médian, 59 ans vs 48 ans ; p <0,001). Les lésions pulmonaires avec atteinte critique > 75% étaient plus importantes chez les patients décédés (29,2% vs 3,0% ; p=0,001). Cependant, après ajustement en analyse multivariée, l'âge supérieur à 65 ans était le seul facteur de risque indépendant de décès (p<0,001 ; OR=4,632 IC95% [2,243 ­ 9,565]).Conclusion : L'âge supérieur à 65 ans était le facteur de risque indépendant de décès, nécessitant un renforcement de mesure de contrôle de l'infection dans cette population

Introduction: The study of the prognostic factors of death of patients infected with SARS-CoV2 is necessary for the implementation of preventive measures against COVID-19. Methods: This is a retrospective study conducted in the COVID infectious disease sector of the SICOV of the University Hospital of Libreville over a period of activity from March 15 to June 30. The clinical course of the survivors and the deceased were compared. Univariate and multivariate logistic regression to explore risk factors associated with SICOV deaths were used.Results: A total of 441 COVID-19 patients were included in the study, of which 398 survivors (90.2%) and 43 died (9.8%). The population under 65 represented 88.0% of the workforce. The sex ratio was 1.34. Compared to the 398 survivors, the 43 patients who died were significantly older (median age, 59 years vs 48 years; p <0.001). Lung lesions with critical impairment > 75% were greater in deceased patients (29.2% vs. 3.0%; p = 0.001). On multivariate analysis, age over 65 was the main independent risk factor for death (p <0.001; OR = 4.632 95% CI [2.243 - 9.565]).Conclusion: Age over 65 was the independent risk factor for death, requiring increased infection control measures in this population

Profil épidémio-clinique, fonctionnel et de sensibilisation aux allergènes chez les asthmatiques suivis en consultation en milieu Africain à Libreville, Gabon / Epidemiological-clinical, functional profile and sensitization to allergens in asthmatics followed in consultation in an African environment in Libreville, Gabon

Introduction : La prévalence de l'asthme au niveau national est inconnue. L'objectif était de déterminer la prévalence hospitalière de l'asthme et la sensibilisation aux pneumallergènes standards.Patients et Méthodes : Il s'agit d'une étude transversale, rétrospective qui a consisté en l'analyse descriptive de 164 dossiers de patients asthmatiques reçus pour consultation au CHU de Libreville sur une période d'activité de 36 mois. La mesure du VEMS pré et post-bronchodilatateur ainsi que les prick-tests ont été réalisés. Les extraits standardisés suivants étaient testés : Dermatophagoïdes pteronyssinus et farinae, les phanères (chien et chat), les plantes vertes (Cynodon dactylon) et les moisissures (Alternaria sp). Résultats : Des 2798 patients reçus en consultation de pneumologie, 164 l'étaient pour un asthme soit une fréquence 5,8%. Parmi les 164 patients asthmatiques 59,8%(n=98) étaient des femmes avec un sex-ratio à 0,67. La moyenne d'âge de la population d'étude était de 31±18,1 ans, des extrêmes de 5 et 81 ans. Plus de la moitié des patients résidait en milieu urbain (59,7%), et était sans revenu (50,7%). L'asthme était associé à la rhinite allergique dans 72,6%. Seuls 45 patients avaient réalisé les prick tests parmi lesquels la sensibilisation aux acariens (n=37/45 ; 82,2%) était fréquente et dominée par Dermatophagoïdes pteronyssinus (n=32/37 ; 86,5%). La sensibilisation à Blomia tropicalis était de 73,0% (n=27/37). La sensibilisation aux phanères d'animaux (chiens et chats) était observée chez 9 patients (n=9/45 ; 20,0%). Aucune sensibilisation à l'Alténaria sp n'a été relevée. Le déficit ventilatoire obstructif proximal et distal a été observé dans 45,8% des cas (n=60/131).Conclusion : La prévalence de l'asthme est relativement élevé dans notre contexte d'exercice. Le taux sensibilisation révélé est le témoin d'une forte pression allergénique exercée par l'environnement domestique

Introduction: The national prevalence of asthma is unknown. The objective was to determine the hospital prevalence of asthma and sensitization to standard airborne allergens. Patients and Methods: This is a cross-sectional, retrospective study which consisted of the descriptive analysis of 164 records of asthmatic patients received for consultation at the University Hospital of Libreville over a period of activity of 36 months. Measurement of pre- and post-bronchodilator FEV1 as well as prick-tests were performed. The following standardized extracts were tested: Dermatophagoides pteronyssinus and farinae, skin appendages (dog and cat), green plants (Cynodon dactylon) and molds (Alternaria sp).Results: Of the 2798 patients seen in a pulmonology consultation, 164 were for asthma, i.e. a frequency of 5.8%. Among the 164 asthmatic patients 59.8% (n=98) were women with a sex ratio of 0.67. The average age of the study population was 31 ± 18.1 years, extremes of 5 and 81 years. More than half of the patients lived in urban areas (59.7%), and had no income (50.7%). Asthma was associated with allergic rhinitis in 72.6%. Only 45 patients had performed prick tests,among which sensitization to house dust mites (n=37/45; 82.2%) was frequent and dominated by Dermatophagoides pteronyssinus (n=32/37; 86.5%). Sensitization to Blomia tropicalis was 73.0% (n=27/37). Sensitization to animal dander (dogs and cats) was observed in 9 patients (n=9/45; 20.0%). No sensitization to Altenaria sp was noted. Proximal and distal obstructive ventilatory deficit was observed in 46.5% of cases (n=60/130).Conclusion: The prevalence of asthma is relatively high in our exercise context. The sensitization rate revealed is the witness of a strong allergenic pressure exerted by the domestic environment.

Can a genetic profile be related to performance in young talent track and field athletes? A pilot study

Abstract Aim: This study analyzed the influences of ACE and ACTN3 gene variants in sprinters, jumpers, and endurance young athletes of track and field. Methods: 36 school-level competitors of both sex (15 girls and 21 boys; aged 16.4 ± 1.2 years; training experience 4 ± 1.2 years) practitioners of different sport disciplines (i.e., sprint, jump, and endurance athletes) participated in the study. The deoxyribonucleic acid (DNA) was extracted from peripheral blood using a standard protocol. Anthropometric measurements, 30 m sprint, squat jump (SJ), and maximal oxygen uptake (VO2max) tests were measured. Results: Genotype distribution of the ACE and ACTN3 genes did not differ between groups. In ACE DD and ACTN3 RX genotypes, the SJ test was bigger in sprinters and jumpers than in the endurance runners. In contrast, when analyzing the ACE ID genotype, sprinters had higher SJ than endurance athletes. Moreover, in the ACE DD genotype, the sprinters and jumpers' athletes had lower time in 30 m tests compared to endurance runners. However, the ACE ID and ACTN3 RX genotypes was greater aerobic fitness in endurance runners than in jumpers' athletes. Conclusion: Although the genetic profile is not a unique factor for determining athletic performance, the ACE DD and ACTN3 RX genotypes seem to favor athletic performance in power and sprint versus endurance sports. Thus, this study evidenced that assessing genetic variants could be used as an auxiliary way to predict a favorable profile for the identification of young talents of track and field.

Effect of Leptin, Pituitary Transcription Factor and Luteinizing Hormone Receptor Genes Polymorphisms on Reproductive Traits and Milk Yield in Holstein Cattle

Abstract The aim of this study was to estimate allelic and genotypic frequencies of markers in the leptin (LEP), pituitary transcription factor (PIT-1) and luteinizing hormone receptor (LHR) genes and evaluate their effects on reproductive traits and milk yield of Holstein cattle. Data from 147 cows from department of Francisco Morazán, Honduras, were collected and PCR-Restriction Fragment Length Polymorphism (RFLP) assays were performed to characterize the PIT-1-HinfI, LEP- A59V and LHR-rs41256848 polymorphisms. To estimate the effect of genotypes on reproductive traits and milk yield fixed and mixed linear models were fitted. The frequencies of the genotypes CC, CT and TT of A59V, AA, AB and BB of HinfI, and CC, CG and GG of rs41256848 were 0.46, 0.33 and, 0.21; 0.09, 0.32 and 0.58; and 0.37, 0.61 and 0.02, respectively. The genotypes of LEP and LHR showed deviations from Hardy-Weinberg equilibrium. The A59V polymorphism was significantly associated with the calving to conception interval (CCI) (p=0.01), being the C allele favorable. The HinfI and rs41256848 polymorphism were significantly associated (p=0.08 and p=0.04) with age to first calving (AFC), being the A and G the alleles favorable associated, respectively. The results suggest that LEP, PIT and LHR polymorphisms can probably act as candidate to be used in marker-assisted selection for AFC and CCI traits.

Polymorphism of the CYP2C9 and VKORC1 genes in patients on the public health system of a municipality in Southern Brazil / Polimorfismo dos genes CYO2C9 e VKORC1 em pacientes do Sistema Público de Saúde em um município do Sul do Brasil

Abstract Background Genetic factors can be responsible for part of the populational and interindividual differences observed in warfarin users. Objectives To identify occurrence of polymorphisms of the CYP2C9 and VKORC1 genes in patients taking warfarin and relate these profiles to their medication dosages and the Time in Therapeutic Range (TTR). Methods Monthly interviews were conducted for data collection. Data were collected on demographic characteristics and medications in use, especially warfarin, including reason for prescription and weekly dose. TTR was calculated as the percentage of days with international normalized ratio (INR) between 2 and 3. The CYP2C9 and VKORC1 genes were analyzed at a Human Genetics Laboratory. Results 49 patients (74.2%) had polymorphisms of the CYP2C9 and/or VKORC1 genes; the remaining 17 (25.8%) did not have these polymorphisms. The average weekly dose of warfarin was lower among those who had a polymorphism for any of the genes compared to those who did not, with a significant difference (p = 0.035). The mean TTR was also lower among patients with polymorphism. However, the difference between the two groups was not significant for this variable (p = 0.438). Conclusions An association was observed between the polymorphisms and the warfarin doses taken by the patients. However, there was no association with adverse events or the time spent within the therapeutic range in this sample.

Resumo Contexto Fatores genéticos podem ser responsáveis por parte das diferenças populacionais e interindividuais observadas em usuários de varfarina. Objetivos Identificar a ocorrência de polimorfismo dos genes CYP2C9 e VKORC1 em pacientes em uso de varfarina e relacionar esses perfis com a dose do medicamento e o tempo no intervalo terapêutico. Métodos Foram realizadas entrevistas mensais para a coleta de dados. Foram reunidos dados sobre características demográficas e medicamentos em uso, principalmente sobre varfarina, como motivo da prescrição e dose semanal. O tempo no intervalo terapêutico foi calculado como a porcentagem de dias com razão normalizada internacional entre os valores 2 e 3. Os genes CYP2C9 e VKORC1 foram analisados em laboratório de Genética Humana. Resultados Entre os participantes, 49 pacientes (74,2%) apresentaram polimorfismo dos genes CYP2C9 e/ou VKORC1; os 17 restantes (25,8%) não apresentaram esses polimorfismos. A dose média semanal de varfarina foi menor entre os que apresentaram polimorfismo para algum dos genes em comparação aos que não apresentaram, com diferença significativa (p = 0,035). O tempo no intervalo terapêutico médio também foi menor entre os pacientes com polimorfismo. Porém, não houve diferença significativa entre os dois grupos para essa variável (p = 0,438). Conclusões Foi observada associação entre os polimorfismos e a dose de varfarina utilizada pelos pacientes; no entanto, não houve associação com eventos adversos e o tempo de permanência na faixa terapêutica nessa amostra.

Young People's Knowledge of Sickle Cell Disease and Willingness for Genotype Screening in Ibadan, Nigeria

Sickle Cell Disease (SCD) is prevalent in Nigeria with 150,000 new cases yearly, owing to poor knowledge, poverty and lack of screening. This study investigated knowledge and willingness to undergo genotype screening among young people who might be contemplating marriage or reproduction during or soon after the National Youth Service Corps (NYSC); the compulsory one-year service for all Nigerian graduates from tertiary institutions. The study was a descriptive cross-sectional design, carried out amongst 355 respondents using a stratified random sampling. Both qualitative and quantitative methods were employed with due ethical considerations and analysis. The age range was between 18 and 30 years, with more female (54.6%) respondents. Almost all (96.3%) of the respondents have heard about SCD. The prevalence of SCD in the families of the respondents was 10.1% and majority (87.0%) have had genotype screening. Many (60.6%) had good knowledge about SCD but less than half (44.5%) could state the difference between genotype and blood group. Statistical associations were recorded between level of knowledge and gender, discipline of study and willingness. Concerted efforts should be geared towards SCD health education and screening using the platform of corps members' during their orientation and weekly community development programmes.

Random regression models for the evaluation of the growth of goats of the Anglonubian breed / Modelos de regressão aleatória para avaliação do crescimento de caprinos da raça Anglonubiana

A total of 6593 weight records collected from 796 male and female Anglo-Nubian goats aged up to 130 days, offspring from 29 sires and 225 dams, were used to compare models and estimate genetic parameters throughout the growth curve by applying random regression models. Direct and maternal additive genetic effects and direct and maternal permanent environmental effects were included as random in the models. The contemporary groups were included as fixed effects and goat age at kidding was included as a covariable (linear and quadratic). The choice of the best model was based on the AIC, BIC and AICc criteria. Variance estimates of the four random effects increased as the animals aged. Direct heritability (h2) rose from 0.13 to 0.40 with age, whereas maternal heritability showed a low value. Genetic correlations of weight between closer ages were high. The most suitable random regression model to compare the fitting of random effects was that which employed the Legendre polynomials of quadratic order with homogeneous variance (3333-1).(AU)

Utilizaram-se 6593 pesos de 796 caprinos da raça Anglonubiana, coletados em machos e fêmeas com idade até 130 dias, descendentes de 29 reprodutores e 225 matrizes, com o objetivo de se compararem modelos e de se estimarem parâmetros genéticos ao longo da curva de crescimento com aplicação de modelos de regressão aleatória. Nos modelos, incluíram-se os efeitos genéticos aditivos diretos e maternos e os de ambiente permanente diretos e maternos como aleatórios; os grupos de contemporâneos foram incluídos como efeitos fixos, e a idade da cabra ao parto como covariável (linear e quadrática). A escolha do melhor modelo foi realizada pela avaliação dos critérios AIC, BIC e AICc. As estimativas de variâncias dos quatro efeitos aleatórios cresceram de acordo com o aumento da idade. A herdabilidade direta (h2) aumentou de 0,13 a 0,40 com a idade, e a materna apresentou baixo valor. As correlações genéticas do peso entre idades mais próximas foram altas. O modelo de regressão aleatório mais adequado ao se comparar o ajuste dos efeitos aleatórios foi o que empregou polinômios de Legendre de ordem quadrática com variância homogênea (3333-1).(AU)

Resizing the productive characteristics of meat-type quail through principal component analysis / Redimensionamento das características produtivas de codornas de corte por meio da análise de componentes principais

This study aimed to establish criteria for eliminating redundant variables, to know the magnitude of the data relationship, and to provide information that helps researchers in the use of the technique to analyze and interpret production data and egg quality. The data used in this work was obtained from four successive generations of the quail lineage developed by the Department of Animal Science of the Federal University of Pelotas. The characteristics were measured from the 42nd day of age, when the egg production period began, until 126 days of production, obtaining three 28 day periods (cycles) in the four successive generations, totaling 545 females. Of the twelve original variables, only seven demonstrated potential to be maintained in future experiments, representing a 42% exclusion. The main philosophy of this study was the analysis of the studied variables and made possible the understanding of the relationship and the correlations.(AU)

O objetivo do presente trabalho foi estabelecer critérios para eliminação de variáveis redundantes, conhecer a magnitude das relações dos dados, além de fornecer informações que auxiliem pesquisadores na utilização da técnica para analisar e interpretar dados de produção e qualidade de ovos de codornas. Os dados utilizados neste trabalho são provenientes de quatro gerações sucessivas da linhagem de codornas de corte desenvolvida pelo Departamento de Zootecnia da Universidade Federal de Pelotas. As características foram mensuradas do 42º dia de idade até o 126º dia de produção, totalizando 545 fêmeas. Das 12 variáveis originais analisadas, apenas sete demonstraram potencial para serem mantidas em experimentos futuros, representando uma exclusão de 42%. A análise de componentes principais foi efetiva para a redução das variáveis estudadas e possibilitou a compreensão da relação e correlação dessas.(au)

Contribution of rs1799998 polymorphism in CYP11B2 gene in susceptibility to preeclampsia / Contribuição do polimorfismo rs1799998 no gene CYP11B2 na suscetibilidade à pré-eclampsia

Abstract Objectives: the present study aimed to evaluate the association between the rs1799998 polymorphism of the CYP11B2 gene and the susceptibility to preeclampsia (PE) in a Brazilian population. Methods: the study group comprised 61 women who were diagnosed with PE. The control group included 116 women who did not show changes in their blood pressure levels during their pregnancies. The rs1799998 polymorphism of the CYP11B2 gene was amplified by allele-specific polymerase chain reaction (PCR). A multiple logistic regression analysis was performed using the SNPStat program to evaluate the risk of the CYP11B2 gene rs1799998 polymorphism contributing to PE. Results: the PE group had the following genotypes: 1.64% CC, 91.80% CT, and 6.56% TT. In the control group, the observed genotypic frequencies were: 11% CC, 73% CT, and 16% TT. The genotypic frequency distribution did not fit the Hardy Weinberg Equilibrium (HWE) in either study group. The multiple logistic regression analysis showed a statistically significant difference for the rs1799998 polymorphism in the recessive model. Conclusion: the results suggest an association between the recessive model of C/C genotype of the rs1799998 polymorphism of the CYP11B2 gene and susceptibility to PE.

Resumo Objetivos: avaliar a associação entre o polimorfismo rs1799998 do gene CYP11B2 e a suscetibilidade à PE em uma população brasileira. Métodos: participaram desse estudo 61 mulheres com PE e 116 mulheres normotensas. O polimorfismo rs1799998 do gene CYP11B2 foi amplificado por PCR alelo-específica. O risco do polimorfismo rs1799998 do gene CYP11B2 contribuir com a PE foi avaliado pela análise de regressão logística múltipla. Resultados: as frequências genotípicas observadas foram 1.64% CC, 91.80% CT e 6.56% TT no grupo PE e 11%CC, 73%CT e 16%TT grupo controle. A distribuição da frequência genotípica não estava em Equilíbrio de Hardy Weinberg em nenhum dos grupos estudados. A análise de regressão logística múltipla demonstrou diferença estatisticamente significativa para o polimorfismo rs1799998 no modelo recessivo. Conclusão: o presente trabalho sugere associação do genótipo C/C no modelo recessivo, do polimorfismo rs1799998 do gene CYP11B2 com a suscetibilidade a PE.

Minor temperature shifts do not affect chromosomal ploidy but cause transcriptomic changes in Leishmania braziliensis promastigotes in vitro

BACKGROUND The leishmaniases are complex neglected diseases caused by protozoan parasites of the genus Leishmania. Leishmania braziliensis is the main etiological agent of cutaneous leishmaniasis in the New World. In recent studies, genomic changes such as chromosome and gene copy number variations (CNVs), as well as transcriptomic changes have been highlighted as mechanisms used by Leishmania species to adapt to stress situations. OBJECTIVES The aim of this study was to determine the effect of short-term minor temperature shifts in the genomic and transcriptomic responses of L. braziliensis promastigotes in vitro. METHODS Growth curves, genome and transcriptome sequencing of L. braziliensis promastigotes were conducted from cultures exposed to three different temperatures (24ºC, 28ºC and 30ºC) compared with the control temperature (26ºC). FINDINGS Our results showed a decrease in L. braziliensis proliferation at 30ºC, with around 3% of the genes showing CNVs at each temperature, and transcriptomic changes in genes encoding amastin surface-like proteins, heat shock proteins and transport proteins, which may indicate a direct response to temperature stress. MAIN CONCLUSIONS This study provides evidence that L. braziliensis promastigotes exhibit a decrease in cell density, and noticeable changes in the transcriptomic profiles. However, there were not perceptible changes at chromosome CNVs and only ~3% of the genes changed their copies in each treatment.

Association of the ATP-binding Cassette Transporter A1 Gene Polymorphismo with Lipid Profile and Tye 2 Diabetes Mellitus

Diabetes remains unique among the main non-communicable ailments (NCDs) recognized by the World Health Organization (WHO), apart from the circulatory diseases, tumours, and long-lasting respiratory ailments. The current study aimed to determine the correlation between ABCA1 gene polymorphismo and lipid profile in type 2 diabetes mellitus patients. Serum samples from 100 type 2 diabetes mellitus patients (46 males and 54 females) and 50 standard subjects (26 males and 24 females) were colected from Najaf province/Irak. Fasting blood sugar (FBS), and lipid profiles (total cholesterol (TC), triglycerides (TH), HDL, LDL, and VLDL) were meassured. Plymerase chain reaction (PCR) with the Taq1 enzye was used for the amplification of the ABCA1 gene, which contains 525bp of the AABCA1 gene in the locus V825I. The present study revaled a positive corrrelation between FBS and body mass index (BMI) (r= 0.2390, p= 0.0463), TG (r = 0.1836, p= .01743), and VLDL (r = 0.1836, p = 0.1839). The frequencies of the GG genotype and the G allele were higher in the normal groups compared to the patientes (58% vs. 56% and 70% vs. 67%, respectively); conversely, the frequencies of the AA genotype (18% vs. 22%) and the A allele (30% vs. 33%) were higher in the patients compared to the normal groups. The data also showed a significant relationship between ABCA1 gene polymorphim and both TG and VLDL (P=0.007 for cach). There is relationship between the ABCA1 gene and HDL level. Additiionally, the G allele could be a defensive factor against diabetes mellitus in Iraqi peole (AU)

El controvertido complejo Burkholderia cepacia, un grupo de especies promotoras del crecimiento vegetal y patógenas de plantas, animales y humanos / The controversial Burkholderia cepacia complex, a group of plant growth promoting species and plant, animals and human pathogens

El complejo Burkholderia cepacia está formado por 22 especies conocidas como patógenos oportunistas en personas inmunocomprometidas, especialmente en aquellas con fibrosis quística. También se aíslan de infecciones nosocomiales y son difíciles de erradicar debido a su capacidad intrínseca para resistir una gran variedad de antibióticos. En general, estas especies presentan genomas de gran tamaño (hasta 9 Mpb) divididos en 2-5 replicones. Esta característica aporta una gran versatilidad metabólica, que se considera importante para habitar el suelo, el agua, las plantas, incluso los nódulos en leguminosas. Algunas especies del complejo B. cepacia exhiben actividades benéficas, como biorremediación, biocontrol y promoción del crecimiento vegetal. No obstante, debido a su papel en infecciones de humanos, su uso en la agricultura está restringido. El complejo B. cepacia es un tema constante de estudio debido a su impacto en el sector salud y su potencial en la agricultura. En este trabajo se examina la historia del complejo B. cepacia y se revisa la información reciente relacionada con este grupo de bacterias.

The Burkholderia cepacia complex is a group of 22 species, which are known as opportunistic pathogens in immunocompromised people, especially those suffering from cystic fibrosis. It is also found in nosocomial infections and is difficult to eradicate due to intrinsic resistance to several antibiotics. The species have large genomes (up to 9 Mbp), distributed into 2-5 replicons. These features significantly contribute to genome plasticity, which makes them thrive in different environments like soil, water, plants or even producing nodules in legume plants. Some B. cepacia complex species are beneficial in bioremediation, biocontrol and plant-growth promotion. However, because the B. cepacia complex is involved in human infection, its use in agriculture is restricted. B. cepacia complex is being constantly studied due to the health problems that it causes and because of its agricultural potential. In this review, the history of B. cepacia complex and the most recently published information related to this complex are revised.

Presencia de Streptococcus Mutans Genotipo C en niños y adolescentes peruanos con caries / Presence of Streptococcus Mutans Genotype C in Peruvian Children and Adolescents with Caries

RESUMEN La caries es una de las enfermedades de naturaleza infecciosa, crónica transmisible muy prevalente en el Perú, relacionada a la presencia del Streptococcus mutans, los hábitos de higiene y nutricionales. Objetivo: El propósito de este estudio fue determinar la presencia del genotipo C en el Streptococcus mutans en niños y adolescentes peruanos, utilizando la técnica PCR- Multiplex; y su asociación con la prevalencia de caries dental. Material y método: Se trabajó con una muestra de 78 niños y adolescentes de ambos sexos de Lima. El estudio consistió en dos fases, en la primera se obtuvo la saliva estimulada, para el cultivo bacteriano, las mismas que fueron sembradas en agar Mitis Salivarius con bacitracina y sulfisoxasol. En la segunda fase se realizó la genotipificación de acuerdo con su perfil enzimático. Para la extracción de ADN se utilizó el GF-1 Bacterial DNA Extraction Kit de GeneONGmbH para lo cual se realizó cultivos de las cepas de Streptococcus sp en el caldo BHI con sacarosa a 37ºC por 24 horas. Resultados: Se evidencia la presencia de Streptococcus mutans en 75.6%: 59 de 78 muestras de saliva. Los resultados de la genotipificación por PCR Multiplex demuestran la presencia de 22 muestras de saliva de Streptococcus mutans con genotipos C (37,29%) y 37 muestras (62,71%) que no pertenecen a dicho Genotipo. Conclusiones: Los resultados evidenciaron que el Streptococcus mutans genotipo C no está relacionado al sexo, grupo etario ni a la presencia de caries dental.

ABSTRACT Caries is one of the diseases of infectious nature, chronic transmissible very prevalent in Peru, related to the presence of Streptococcus mutans, hygienic and nutritional habits. Objective: The purpose of this study was to determine the presence of genotype C in Streptococcus mutans in Peruvian children and adolescents, using the PCR-Multiplex technique; and its association with the prevalence of dental caries. Materials and methods: The study was done with a sample of 78 children and adolescents of both sexes from Lima. The study consisted of two phases, on the first one the stimulated saliva was obtained, for the bacterial culture, the same ones that were grown on Mitis Salivarius agar with bacitracin and sulfisoxasol. On the second phase, genotyping was carried out according to its enzymatic profile. For the extraction of DNA, the Gene Extraction Kit GG-1 Bacterial DNA was used, for which cultures of Streptococcus sp strains were performed in the BHI broth with sucrose at 37ºC for 24 hours. Results: The presence of Streptococcus mutans was evidenced in 59 (75.6%) of 78 saliva samples. The results of the genotyping by PCR Multiplex demonstrate the presence of 22 saliva samples of Streptococcus mutans with genotypes C (37,297%) and 37 samples 62, 71 % without this Genotype. Conclusions: The results showed that the presence of genotype C is not related to sex, age group or the presence of dental caries.

Las pruebas de ADN en el contexto forense parte II. Interpretación estadística / Basic concepts of DNA testing in the forensic context part II. Statistical interpretation

Este artículo expone los conceptos básicos de las pruebas de ADN en el contexto forense. Describe como se establece la coincidencia entre el perfil genético de la muestra biológica encontrado en la escena del crimen con el perfil de un sospechoso o imputado; como se estima la probabilidad de que la coincidencia haya sido por azar evaluando la frecuencia del perfil genético en la población, es decir, la probabilidad de que el sospechoso en realidad no haya sido la fuente de la evidencia; y otros parámetros estadísticos importantes al momento de evaluar un análisis de ADN...(AU)

Genetic profile, risk factors and therapeutic approach of desmoid tumors in familial adenomatous polyposis / Perfil genético, fatores de risco e abordagem terapêutica dos tumores desmóides na Polipose Adenomatosa Familiar

ABSTRACT Introduction: Desmoid tumors are the main extraintestinal manifestation of FAP, presenting high morbidity and mortality. It is a neoplasia without metastasis capacity, but with infiltrative growth and with a high rate of recurrence. In familial forms, these tumors are associated with a germinal mutation in the APC gene, with a genotype-phenotype correlation influenced by other risk factors. Materials and methods: A review of articles published since the year 2000 in Portuguese, English or Spanish on desmoid tumors in patients with FAP was carried out. A total of 49 publications were included. Results: The site of the mutation in the APC gene is related to the severity of FAP and to the frequency of desmoid tumor. Mutations located distally to codon 1309 are associated with a more attenuated polyposis, but with higher frequency of desmoid tumors. Clinically, these tumors may or may not be symptomatic, depending on their size and location. In their treatment, priority should be given to medical therapy, especially in intra-abdominal tumors, with surgery being the last option if there are no other complications. Discussion: These tumors are associated with certain risk factors: genetic (mutation site), hormonal (estrogenic environment) and physical (surgical trauma) ones. In young women, a later prophylactic colectomy is suggested. Moreover, the laparoscopic approach to prophylactic surgery seems to be an option that reduces surgical trauma and consequently the appearance of desmoid tumors. Conclusion: The step-up medical approach has been shown to be valid in the treatment of intra-abdominal desmoid tumors, and medical treatment should be the first therapeutic option.

RESUMO Introdução: Os tumores desmóides são a principal manifestação extraintestinal da PAF, apresentando elevada morbimortalidade. É uma neoplasia sem capacidade de metastização, mas com crescimento infiltrativo e com alta taxa de recorrência. Nas formas familiares associa-se a uma mutação germinativa no gene APC, havendo uma correlação genótipo-fenótipo influenciada por outros fatores de risco. Materiais e métodos: Foi efetuada uma revisão de artigos publicados desde o ano 2000, em português, inglês ou espanhol, acerca de tumores desmóides em doentes com PAF. Foram incluídas, no total, 49 publicações. Resultados: O local da mutação no gene APC relaciona-se com a gravidade da PAF e frequência de tumor desmóide. Mutações localizadas distalmente ao codão 1309 associam-se a uma polipose mais atenuada, mas a maior frequência de tumor desmóide. Clinicamente podem ser, ou não, sintomáticos, dependendo do seu tamanho e localização. No seu tratamento deve ser dada prioridade à terapêutica médica, sobretudo nos tumores intra-abdominais, colocando a cirurgia como última opção, caso não hajam outras complicações. Discussão: Estes tumores associam-se a determinados fatores de risco: genéticos (local da mutação), hormonais (ambiente estrogénico) e físicos (trauma cirúrgico). Nas mulheres jovens sugere-se a realização de colectomia profilática mais tardiamente. Além disso, a abordagem laparoscópica para a cirurgia profilática parece ser uma opção que diminui o trauma cirúrgico e consequentemente o aparecimento de tumores desmóides. Conclusão: A abordagem médica em step-up mostrou ser válida no tratamento de tumores desmóides intra-abdominais, devendo o tratamento médico ser a primeira opção terapêutica.

Genotipo, sensibilidad a los antifúngicos y formación de biofilm de aislados de Trichosporon asahii recuperados de la orina de pacientes hospitalizados / Genotype, antifungal susceptibility, and biofilm formation of Trichosporon asahii isolated from the urine of hospitalized patients

En este estudio fueron analizadas mediante el cultivo muestras de orina de pacientes hospitalizados en la región centro-oeste de Brasil; los microorganismos aislados fueron identificados filogenéticamente como Trichosporon asahii. A través del análisis de máxima parsimonia de las secuencias de IGS1, fueron encontrados 3 genotipos que no habían sido descritos anteriormente. Las concentraciones inhibitorias mínimas frente a los 9 aislados identificados presentaron un rango de 0,06-1µg/ml en el caso de la anfotericina B, de 0,25-4µg/ml en el del fluconazol, y de 0,03-0,06µg/ml en el del itraconazol. Aproximadamente 6/9 de los aislados de T. asahii formaron biopelículas en la superficie de microplacas de poliestireno. Este trabajo documenta el aislamiento de T. asahii como agente causal de infeciones urinarias nosocomiales. Además, demuestra que la región IGS1 puede ser considerada una nueva herramienta epidemiológica para la genotipificación de los aislados de T. asahii. Los genotipos menos comunes encontrados en este estudio pueden estar relacionados con las características epidemiológicas locales

In this study, the culture analysis of urine samples from patients hospitalized in the Central-West region of Brazil was performed, and the isolated microorganisms were phylogenetically identified as Trichosporon asahii. Maximum parsimony analysis of the IGS1 sequences revealed three novel genotypes that have not been described. The minimum inhibitory concentrations of the nine isolates identified were in the range of 0.06­1µg/ml for amphotericin B, 0.25­4µg/ml for fluconazole, and 0.03­0.06µg/ml for itraconazole. Approximately 6/9 of the T. asahii isolates could form biofilms on the surface of polystyrene microplates. This study reports that the microorganisms isolated here as T. asahii are agents of nosocomial urinary tract infections. Furthermore, the IGS1 region can be considered a new epidemiological tool for genotyping T. asahii isolates. The least common genotypes reported in this study can be related to local epidemiological trends