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1.
Acta amaz ; 50(3): 183-191, jul. - set. 2020.
Artigo em Inglês | LILACS (Américas) | ID: biblio-1118775

RESUMO

This study aimed to evaluate and select progenies and matrices of cupuassu-tree siblings, and to select Brazilian mahogany matrices with superior characteristics to be used in agroforestry systems (AFS). Twenty-five full cupuassu tree sibling progenies and one Brazilian mahogany half-sibling progeny were evaluated. The study was conducted for 14 years in a commercial property in Tomé Açu, Pará State, Brazil. The number of fruits and fruit yield per plant, as well as the rate of plants with symptoms of witches' broom disease, were used as response variables for cupuassu. For mahogany, the following response variables were used: total height, commercial height, crown height, diameter at breast height and commercial wood volume. There were five cupuassu tree progenies with interesting characteristics to be used in AFS. Based on the high values observed in the selection accuracy and heritabilities, a good potential for the selection of promising individuals in the cupuassu tree population is inferred. Based on the ranking of genotypic values and their agronomic performance, 10 matrices of cupuassu tree were selected. For Brazilian mahogany, three matrices showed excellent silvicultural performance. The matrices of these two species should be propagated vegetatively in order to evaluate clonal tests. (AU)


Assuntos
Plantas , Melhoramento Vegetal , Genótipo
2.
Arch. argent. pediatr ; 118(3): e258-e264, jun. 2020. tab, ilus
Artigo em Inglês, Espanhol | LILACS (Américas), BINACIS | ID: biblio-1116915

RESUMO

El síndrome de Silver-Russell se caracteriza por retraso del crecimiento intrauterino asimétrico, con circunferencia craneal normal, barbilla pequeña y puntiaguda, que proporciona un aspecto de rostro triangular. Puede, además, presentar asimetría corporal, entre otros. Tiene una incidencia mundial estimada de 1 en 30 000-100 000 nacimientos, aunque este número es, probablemente, subestimado. En alrededor del 60 % de los casos, se puede identificar una causa molecular y la principal es la hipometilación del alelo paterno en la región de control de impresión 1 localizado en 11p15.5-p15.4. Realizar el diagnóstico de esta entidad, excluir los diagnósticos diferenciales y conocer las correlaciones (epi)genotipo-fenotipo son necesarios para realizar el adecuado seguimiento, brindar las opciones terapéuticas disponibles y el oportuno asesoramiento genético familiar. El objetivo del presente artículo es mostrar el estado actual del síndrome de Silver-Russell, un ejemplo de trastorno de impronta genómica.


Silver-Russell syndrome is characterized by asymmetrical intrauterine growth retardation, with normal head circumference and small, pointed chin, which results in a triangular face. It can also include body asymmetry, among other characteristics. Its global incidence is estimated at 1 in 30 000-100 000 births, even though this figure may be underestimated. In approximately 60 % of cases, a molecular cause can be identified, and the main one is hypomethylation of the paternal allele at the imprinting control region 1 located at 11p15.5-p15.4. It is necessary to make the diagnosis of this entity, exclude differential diagnoses, and know (epi)genotype-phenotype correlations in order to ensure an adequate follow-up, provide available therapeutic options, and offer a timely family genetic counseling. The objective of this article is to describe the current status of the Silver-Russell syndrome, a model of genomic imprinting disorder.


Assuntos
Humanos , Masculino , Feminino , Síndrome de Silver-Russell/fisiopatologia , Fenótipo , Impressão Genômica , Diagnóstico Diferencial , Síndrome de Silver-Russell/diagnóstico , Síndrome de Silver-Russell/terapia , Retardo do Crescimento Fetal , Aconselhamento Genético , Genótipo
3.
Arch. argent. pediatr ; 118(2): e199-e203, abr. 2020. ilus
Artigo em Espanhol | LILACS (Américas), BINACIS | ID: biblio-1100481

RESUMO

La enfermedad mano-pie-boca (EMPB) típica es exantemática, con sintomatología clásica de fiebre, exantema papulovesicular en las manos y los pies, asociada o no a herpangina. Es causada, principalmente, por enterovirus 71 y virus Coxsackie A16, miembros del género Enterovirus. En los últimos años, se han descrito brotes mundiales de EMPB con manifestaciones atípicas causadas, sobre todo, por el virus Coxsackie A6. La EMPB atípica se considera emergente con características clínicas y epidemiológicas peculiares: la afección de adultos, el predominio en invierno y un amplio espectro de manifestaciones clínicas en la extensión y la distribución de las lesiones. Las características morfológicas de las lesiones son muy variables: pueden simular varicela, impétigo o vasculitis.Se describe el caso de un niño de 4 años con EMPB atípica. Se detalla su forma de presentación, evolución clínica, metodología diagnóstica y terapéutica empleada.


Typical hand-foot-mouth disease (HFMD) is an exanthematous viral disease with a classic symptomatology of fever, papulovesicular rash on the hands and feet with or without herpangina. It is usually caused by enterovirus 71 and Coxsackievirus A16, members of the genus Enterovirus. Recently, worldwide outbreaks of HFMD with atypical manifestations caused by Coxsackievirus A6 have been described. Atypical HFMD is considered an emerging disease due to its peculiar clinical and epidemiological characteristics: it affects adults, has a wide spectrum of clinical manifestations in the extension and distribution of the lesions and occurs in winter. The morphological characteristics of the lesions are very variable and can be misdiagnosed as chickenpox, impetigo or vasculitis. Here we describe the symptoms, clinical evolution, diagnostic methodology and treatment employed on a 4-year-old male patient with atypical HFMD.


Assuntos
Humanos , Masculino , Pré-Escolar , Enterovirus Humano A/classificação , Doença de Mão, Pé e Boca/diagnóstico , Infecções por Coxsackievirus/epidemiologia , Diagnóstico Diferencial , Genótipo , Doença de Mão, Pé e Boca/terapia
4.
Arch. med ; 20(1): 86-96, 2020-01-18.
Artigo em Inglês | LILACS (Américas) | ID: biblio-1053236

RESUMO

Objective: this paper aims to perform diagnostic screening of HPV in healthy Ecuadorian mestizo women, from seven provinces, and compare the findings with other Latin American populations. Material and methods: genotyping was done with two different oligonucleotides MY09 and MY11; a fragment of 450 base pairs was amplified,L1 region of the viral genome. Results: it analyzed 555 women, 35 were positive for HPV (6.3%). Genotypes found in relation to oncogenic risk, were 6, 11, 16, 18, 31, 33, 35, 42, 45, 51, 52, 53, 58, 59, 61, 81. 12/35 women (34.3%) presented high-risk genotypes. Four positive cases were also observed in women older than 55 years (0.36%). The 14 published studies of Ecuadorian women showed that the most prevalent genotypes are 16, 18, 31, 52, 53, 56 and 58; while in the eight Latin American Studies the most prevalent are 16, 18, 31, 45, 52 and 58. Conclusion: although there are several studies on HPV genotyping on Latin American populations, there is an important gap related to ethnicity and the prevalence of the virus. In addition, most of them have not compared similar and common subtypes in the population. The general prevalence of HPV in the studied population was 6.3%. It found that genotypes 16, 18, 31, 52, 53, 56 and 58 are the most prevalent in Ecuadorian normal mestizo women. Genotypes 53 and 56 are common in Latino populations. Larger studies, in different ethnic groups are needed to identify other prevalent genotypes in certain geographical areas..(AU)


Objetivo: realizar tamizaje diagnóstico de VPH en mujeres mestizas ecuatorianas sanas, de siete provincias, y comparar los hallazgos con otras poblaciones latinoamericanas. Material y métodos: el genotipado se realizó con dos oligonucleótidos diferentes MY09 y MY11; se amplificó un fragmento de 450 pares de bases, correspondiente a la región L1 del genoma viral. Resultados: se analizó 555 mujeres, 35 fueron positivas para VPH (6,3%). Los genotipos encontrados en relación con el riesgo oncogénico fueron 6, 11, 16, 18, 31, 33, 35, 42, 45, 51, 52, 53, 58, 59, 61, 81. 12/35 mujeres (34,3%) presentaron genotipos de alto riesgo. También se observaron cuatro casos positivos en mujeres mayores de 55 años (0,36%). Los 14 estudios publicados de mujeres ecuatorianas mostraron que los genotipos más prevalentes son 16, 18, 31, 52, 53, 56 y 58; mientras que en los ocho estudios latinoamericanos los más prevalentes son 16, 18, 31, 45, 52 y 58. Conclusión: aunque existen estudios sobre la prevalencia de VPH, aún existe una brecha sobre la relación entre la etnicidad y la prevalencia del virus. Además, los estudios en América Latina no han comparado subtipos similares y comunes en la población. La prevalencia general del VPH en la población estudiada fue del 6,3%. Este estudio encontró que los genotipos 16, 18, 31, 52, 53, 56 y 58 son los más prevalentes en las mujeres mestizas ecuatorianas sanas. Los genotipos 53 y 56 son los más comunes en las poblaciones latinas. Se necesitan estudios más grandes, en diferentes grupos étnicos para identificar otros genotipos prevalentes en ciertas áreas geográficas..(AU)


Assuntos
Feminino , Infecções por Papillomavirus , Genótipo , Hispano-Americanos
5.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-820819

RESUMO

OBJECTIVES: We investigated the characteristics of Streptococcus mutans in the national culture collection from Korea. Twenty-nine (dental plaque, n=27; endodontic infections, n=1; blood, n=1) isolates were included in this study.METHODS: Antimicrobial susceptibilities were tested using the disk diffusion test. Multilocus sequence typing (MLST), serotyping, and collagen-binding genes were used for polymerase chain reaction (PCR) and direct sequencing. A collagen-binding (to assess the adhesion properties) assay was performed. S. mutans demonstrated high susceptibility to antimicrobial agents. Differences in collagen-binding abilities of the cnm-positive and -negative groups were compared using the Mann-Whitney U test (P<0.05).RESULTS: MLST analyses revealed 25 sequence types (STs), 17 of which (ST213-ST229) contained new alleles. The strains were classified into four serotypes with the c type encompassing 79.3% of all strains, while the e, f, and k types representing 6.9% each. Analysis of the cnm and cbm genes, which encode the two surface adhesin components of S. mutans, revealed three cnm-positive strains, each displaying greater adhesion ability than those of the cnm-negative strains.CONCLUSIONS: This study highlights the presence of a wide variety of S. mutans genotypes in Korea. These findings may provide useful information regarding the pathogenesis of infectious diseases, such as dental caries.


Assuntos
Alelos , Anti-Infecciosos , Bacteriemia , Doenças Transmissíveis , Cárie Dentária , Difusão , Genótipo , Inflamação , Coreia (Geográfico) , Epidemiologia Molecular , Tipagem de Sequências Multilocus , Reação em Cadeia da Polimerase , Sorogrupo , Sorotipagem , Streptococcus mutans , Streptococcus
6.
Artigo em Coreano | WPRIM (Pacífico Ocidental) | ID: wprim-816605

RESUMO

BACKGROUND: Rapid and accurate detection of Mycobacterium tuberculosis (MTB) is of primary importance for infection control and selection of anti-tuberculosis drugs. However, most clinical laboratories report MTB complex (MTC) without reporting MTB because MTC comprising MTB, Mycobacterium bovis, Mycobacterium africanum, Mycobacterium microti, Mycobacterium caprae and Mycobacterium pinnipedii have 99.9% similarity at the nucleotide level and identical 16S rRNA sequences. This study was conducted to analyze the species frequency of MTC isolates obtained from clinical specimen.METHODS: Of 310 MTC isolates obtained from clinical samples in a tertiary care hospital from February 2017 to August 2018, MolecuTech Real TB-Taq (YD Diagnostics, Korea) real-time PCR was performed, specifically to detect MTB. For DNA showing MTB negative results by MTB-specific real-time PCR or pyrazinamide-resistant strains, PCR-based MTC typing, spoligotyping, and exact tandem repeat D gene sequencing were performed.RESULTS: All the 310 MTC isolates were identified to be MTB. Two MTB strains of East-African-Indian 4-Vietnam genotype, which have not been reported in Korea, were also found.CONCLUSION: There was no zoonotic tuberculosis in this study. Since we investigated only 310 MTC isolates detected in only one medical institution, multi-center study is needed to accurately know the prevalence of zoonotic tuberculosis in Korea.


Assuntos
DNA , Genótipo , Cabras , Controle de Infecções , Coreia (Geográfico) , Mycobacterium bovis , Mycobacterium tuberculosis , Mycobacterium , Prevalência , Reação em Cadeia da Polimerase em Tempo Real , Análise de Sequência , Sequências de Repetição em Tandem , Atenção Terciária à Saúde , Tuberculose
7.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-811416

RESUMO

PURPOSE: Alpha-1 antitrypsin deficiency (A1ATD) in one of the most common genetic causes of liver disease in children. We aimed to analyze the clinical characteristics and outcomes of patients with A1ATD.METHODS: This study included patients with A1ATD from five pediatric hepatology units. Demographics, clinical findings, genetics, and outcome of the patients were recorded (n=25).RESULTS: Eight patients (32.0%) had homozygous PiZZ genotype while 17 (68.0%) had heterozygous genotype. Patients with PiZZ genotype had lower alpha-1 antitrypsin levels than patients with PiMZ genotype (37.6±7.7 mg/dL vs. 66.5±22.7 mg/dL, p=0.0001). Patients with PiZZ genotype were diagnosed earlier than patients with PiMZ genotype, but this was not significant (13±6.8 months vs. 23.7±30.1 months, p=0.192). Follow-up revealed the death of one patient (12.5%) with a homozygous mutation, and revealed that one patient had child A cirrhosis, five patients (62.5%) had chronic hepatitis, and one patient (12.5%) was asymptomatic. Nine of the 17 patients with a heterozygous mutation had chronic hepatitis (52.9%), two (11.7%) had child A cirrhosis, and six (35.2%) were asymptomatic. Overall, 18 (72%) of the 25 children had liver pathology in the long-term.CONCLUSION: Although prevalence is rare, patients with liver disorders should be checked for alpha-1 antitrypsin levels. Moreover, long-term follow-up is essential because most patients have a liver pathology.


Assuntos
Criança , Demografia , Fibrose , Seguimentos , Gastroenterologia , Genética , Genótipo , Hepatite Crônica , Humanos , Hepatopatias , Fígado , Patologia , Prevalência , Prognóstico
8.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-782294

RESUMO

PURPOSE: To date, many kinds of classical swine fever (CSF) vaccines have been developed to protect against this disease. However, the efficacy of these vaccines to protect the pig against field CSF strains needs to be considered, based on circulating strains of classical swine fever virus (CSFV).MATERIALS AND METHODS: Recombinant E2-CSFV protein produced by baculovirus/insect cell system was analyzed by western blots and immunoperoxidase monolayer assay. The effect of CSFV-E2 subunit vaccines was evaluated in experimental pigs with three genotypes of CSFV challenge. Anti-E2 specific and neutralizing antibodies in experimental pigs were analyzed by blocking enzyme-linked immunosorbent assay and neutralization peroxidize-linked assay.RESULTS: The data showed that CSFV VN91-E2 subunit vaccine provided clinical protection in pigs against three different genotypes of CSFV without noticeable clinical signs, symptoms, and mortality. In addition, no CSFV was isolated from the spleen of the vaccinated pigs. However, the unvaccinated pigs exhibited high clinical scores and the successful virus isolation from spleen. These results showed that the E2-specific and neutralizing antibodies induced by VN91-E2 antigen appeared at day 24 after first boost and a significant increase was observed at day 28 (p<0.01). This response reached a peak at day 35 and continued until day 63 when compared to controls. Importantly, VN91-E2 induced E2-specific and neutralizing antibodies protected experimental pigs against high virulence of CSFVs circulating in Vietnam, including genotype 1.1, 2.1, and 2.2.CONCLUSION: These findings also suggested that CSFV VN91-E2 subunit vaccine could be a promising vaccine candidate for the control and prevention of CSFV in Vietnam.


Assuntos
Animais , Anticorpos Neutralizantes , Western Blotting , Vírus da Febre Suína Clássica , Peste Suína Clássica , Ensaio de Imunoadsorção Enzimática , Genótipo , Mortalidade , Baço , Suínos , Vacinas , Vacinas de Subunidades , Vietnã , Virulência
9.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-782184

RESUMO

PURPOSE: Autoimmune hepatitis (AIH) is a chronic disease that may lead to cirrhosis. The immunopathogenesis of AIH is not fully understood and it mainly involves T-cell mediated mechanism. Macrophage migration inhibitory factor (MIF) is a pro-inflammatory cytokine that promotes T cell response and its polymorphism may serve as a severity marker of AIH. No previous study has considered investigating MIF polymorphism in children with AIH.METHODS: Forty-two children with definite diagnosis of AIH were enrolled along with 100 age and sex matched controls. All participants were tested for polymorphism at -173GC (rs755622) of MIF gene. All patients received the standard protocol of steroid plus azathioprine to achieve remission. Liver biopsy was performed at time of diagnosis for all patients and only 18 of them underwent a second biopsy after treatment.RESULTS: No statistically significant differences in the frequency of the genotypes GG and GC or in allele distribution were found in both patient and control groups (p=0.590, 0.640 respectively). Initial alanine aminotransferase (ALT) levels at the time of presentation was significantly higher in the GC group than GG group (p=0.020). GC genotype significantly correlated with disease relapse (r=0.41, p=0.007). Regression of necroinflammation and the fibrosis score in the second liver biopsy was statistically significant in the GG group (p < 0.0001, p=0.010 respectively).CONCLUSION: MIF -173GC polymorphism is associated with clinically significant markers of pediatric AIH, including increased initial serum ALT levels, may help predict necroinflammatory/fibrosis regression effectively, following immunosuppressive treatment.


Assuntos
Alanina Transaminase , Alelos , Azatioprina , Biópsia , Criança , Doença Crônica , Diagnóstico , Fibrose , Genótipo , Hepatite Autoimune , Humanos , Fígado , Macrófagos , Recidiva , Linfócitos T
10.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-782098

RESUMO

OBJECTIVES: Since 2007, human papillomavirus (HPV) vaccines have been administered for the prevention of cervical cancer in Korea. We investigated the status of HPV vaccination among HPV-infected adult women with abnormal cervical cytology before the introduction of National Immunization Program.METHODS: From 2010 to 2016, HPV-positive women (age, 20–60 years) with atypical squamous cells of undetermined significance or low-grade squamous intraepithelial lesion (LSIL) were enrolled from five hospitals across Korea. Their HPV genotype, epidemiologic, and clinical data, including HPV vaccination history, were obtained. We compared the epidemiological characteristics and prevalence of HPV-16/18 genotypes between vaccinated and unvaccinated women.RESULTS: Among the 1,300 women, approximately 26% had a history of vaccination. Vaccinated patients were significantly younger, unmarried, and had a higher education level than unvaccinated women. For HPV-vaccinated individuals by vaccine dose, there was a significant younger age at vaccination initiation (p=0.025), longer duration from HPV vaccination to Pap test date (p=0.001), and lower proportion of HPV-16/18 (p=0.028) in the women with three doses. There was a significantly lower prevalence of HPV-16/18 genotypes in women who were vaccinated at least 12 months prior than in unvaccinated women (adjusted prevalence ratio [aPR]=0.51; 95% confidence interval [CI]=0.29–0.88). For women with LSIL, the prevalence of the HPV-16/18 genotypes was significantly lower in women who were vaccinated more than 12 months prior than in unvaccinated women (aPR=0.35; 95% CI=0.13–0.96).CONCLUSION: This study highlighted the status of HPV vaccination and the prevalence of HPV-16/18 genotypes among HPV-infected women with abnormal cervical cytology according to HPV vaccination. It provides preliminary information regarding the status of HPV vaccination among Korean adult women.


Assuntos
Adulto , Células Escamosas Atípicas do Colo do Útero , Educação , Feminino , Genótipo , Humanos , Programas de Imunização , Coreia (Geográfico) , Teste de Papanicolaou , Prevalência , Estudos Retrospectivos , Pessoa Solteira , Lesões Intraepiteliais Escamosas Cervicais , Neoplasias do Colo do Útero , Vacinação , Vacinas
11.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-781300

RESUMO

OBJECTIVE@#To explore hematological and genotypic characteristics of patients with hemoglobin E (Hb E) disorders from Yunnan Province.@*METHODS@#One hundred individuals with Hb E disorders indicated by high performance liquid chromatography (HPLC) were subjected to genetic testing through multiple gap-PCR and reverse dot-blotting analysis.@*RESULTS@#All patients were found to harbor a mutation to the 26th codon of the β -globin chain (HBB: c.79G>A). Ninety patients were heterozygotes, and 10 co-inherited c.79G>A and an α -thalassemia mutation (7 α α /-α, 2 α α /-- and 1 -α /-α). Hematological characteristics of the heterozygotes were: Hb A2 (26.02±3.64)%, Hb F(1.35±1.25)%, MCV(78.83±4.68) fl, MCH(26±1.54) pg, MCHC (329.65±10.73) g/L, HGB (141.08±16.53) g/L, while that of the co-inherited cases was decided by the type of α -thalassemia mutation.@*CONCLUSION@#Hb E can be effectively detected by HPLC. The type of α -thalassemia mutations will determine hematological features of co-inherited cases. Hb E disorders may be missed by relying only on routine blood test upon prenatal screening.


Assuntos
China , Feminino , Genótipo , Hemoglobina E , Genética , Humanos , Mutação , Gravidez , Talassemia alfa , Genética , Globinas beta , Genética
12.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-781290

RESUMO

OBJECTIVE@#To explore the molecular basis for an individual with ABO subtype.@*METHODS@#The ABO phenotype of the proband was determined by convention serological testing. Exons 6 and 7 of the ABO gene were subjected to PCR amplification and bi-directional Sanger sequencing. Haplotypes for exons 6 and 7 of the proband was determined using an ABO haplotype-specific amplification and sequencing technique.@*RESULTS@#Red blood cells of the proband showed a 4+ agglutination strength with anti-A or anti-H, no agglutination reaction with anti-A1, and a 3+ agglutination strength with anti-B. His serum had no reaction with standard A cells, O cells or self cells, but was weakly reactive with B cells at 4℃. The proband was assigned as an ABO subtype based on his serological features. Bi-directional sequencing of the ABO gene revealed heterozygosity of 261 G/del, 297AG, 526CG, 657CT, 703GA, 803GC and 930GA, and homozygosity of 796CC in the proband. Haplotype-specific amplification and sequencing showed that one of his alleles was ABO*O.01.01, and another contained a c.796A>C variation compared with the ABO*B.01 allele, which led to replacement of methionine by leucine at position 266. Searching the ABO allele database of International Society of Blood Transfusion suggested the variation to be a novel one.@*CONCLUSION@#The c.796A>C variation in the ABO*B.01 allele probably underlies the CisAB subtype. Accurate identification of the ABO subtype requires combined use of serological method and genetic testing.


Assuntos
Sistema ABO de Grupos Sanguíneos , Genética , Alelos , Éxons , Variação Genética , Genótipo , Humanos , Masculino , Fenótipo , Análise de Sequência de DNA
13.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-781289

RESUMO

OBJECTIVE@#To assess the association of JAG2 gene single nucleotide polymorphisms with the occurrence of nonsyndromic cleft lip with or without cleft palate (NSCLP) among northwest Chinese population.@*METHODS@#A case-control study was carried out on 301 NSCLP patients and 304 healthy controls. An iMLDR(TM) genotyping technique was used to detect three single nucleotide polymorphisms (SNPs) [rs741859 (T/C), rs11621316 (A/G) and rs1057744(C/T)] of the JAG2 gene. Allelic and genotypic frequencies and haplotypic distribution among the two groups were compared.@*RESULTS@#A significant difference was found in the frequency of C and T alleles for rs741859 between the two groups. The CT genotype of rs741859 could significantly reduce the risk for NSCLP to 65% (P 0.8), whose distribution difference between the two groups was not statistically significant (P> 0.05).@*CONCLUSION@#The CT genotype of the JAG2 gene rs741859 may confer a protective effect for NSCLP among northwest Chinese population.


Assuntos
Estudos de Casos e Controles , China , Fenda Labial , Genética , Fissura Palatina , Genética , Frequência do Gene , Genótipo , Humanos , Proteína Jagged-2 , Genética , Polimorfismo de Nucleotídeo Único
14.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-810973

RESUMO

BACKGROUND: Elevated blood pressure is a major preventable cause of cardiovascular diseases. Alcohol consumption is a well-known risk factor of elevated blood pressure. The aldehyde dehydrogenase 2 (ALDH2) polymorphism is common in Eastern Asians, and inactive ALDH2 genotypes are associated with both avoiding alcohol consumption and aldehyde accumulation. Therefore, this study assessed the associations between alcohol consumption and hypertension and blood pressure according to the ALDH2 genotypes.METHODS: This study consists of 8,526 participants in the Dong-gu Study. Multivariate logistic regression was used to calculate the odds ratio (OR) according to alcohol consumption after stratifying by gender and ALDH2 genotypes. Multivariate linear regression was performed to estimate the systolic blood pressure (SBP) and diastolic blood pressure (DBP) according to the amount of alcohol consumed.RESULTS: In men, alcohol consumption was positively associated with both SBP and DBP in active ALDH2 carriers, but not in inactive ALDH2 carriers. In active ALDH2 carriers, compared to non-drinkers, the OR of hypertension was 1.16 (95% confidence interval [CI], 0.91–1.49) for < 1 drink/day, and 1.44 (95% CI, 1.15–1.80) for ≥ 1 drink/day in men. With each 1 drink/day increase, SBP and DBP increased by 3 and 1 mmHg in men, respectively. There was no significant association between ALDH2 genotypes and hypertension and blood pressure in women.CONCLUSION: ALDH2 genotype modified the association between alcohol consumption and blood pressure in men. There was a positive relationship between alcohol consumption and blood pressure in active ALDH2 carriers, but no significant relationship in inactive ALDH2 carriers.


Assuntos
Acetaldeído , Consumo de Bebidas Alcoólicas , Aldeído Desidrogenase , Grupo com Ancestrais do Continente Asiático , Pressão Sanguínea , Doenças Cardiovasculares , Estudos de Coortes , Feminino , Genótipo , Humanos , Hipertensão , Modelos Lineares , Modelos Logísticos , Masculino , Razão de Chances , Oxirredutases , Fatores de Risco
15.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-762470

RESUMO

Active surveillance culture (ASC) can help detect hidden reservoirs, but the routine use of ASC for extended spectrum β-lactamase-producing Enterobacteriaceae is controversial in an endemic situation. We aimed to determine the prevalence and risk factors of extended spectrum β-lactamase-producing Klebsiella pneumoniae (EBSL-Kpn) colonization among intensive care unit (ICU)-admitted patients. Prospective screening of ESBL-Kpn colonization was performed for ICU-admitted patients within 48 hours for two months. A perirectal swab sample was inoculated on MacConkey agar supplemented with 2 µg/mL ceftazidime. ESBL genotype was determined by PCR-sequencing, and clonal relatedness was evaluated by pulsed-field gel electrophoresis (PFGE). The risk factors of ESBL-Kpn colonization were evaluated. The ESBL-Kpn colonization rate among the 281 patients at ICU admission was 6.4% (18/281), and bla(CTX-M-15) was detected in all isolates. ESBL producers also showed resistance to fluoroquinolone (38.9%, 7/18). All isolates had the same ESBL genotype (bla(CTX-M-15)) and a highly clustered PFGE pattern, suggesting cross-transmission without a documented outbreak. In univariate analysis, the risk factor for ESBL-Kpn colonization over the control was the length of hospital stay (odds ratio=1.062; P=0.019). Routine use of ASC could help control endemic ESBL–Kpn for ICU patients.


Assuntos
Ágar , Ceftazidima , Colo , Cuidados Críticos , Eletroforese em Gel de Campo Pulsado , Enterobacteriaceae , Genótipo , Humanos , Unidades de Terapia Intensiva , Klebsiella pneumoniae , Klebsiella , Tempo de Internação , Programas de Rastreamento , Prevalência , Estudos Prospectivos , Fatores de Risco
16.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-785398

RESUMO

BACKGROUND: Differences in the performance of suggested warfarin dosing algorithms among different ethnicities and genotypes have been reported; this necessitates the development of an algorithm with enhanced performance for specific population groups. Previous warfarin dosing algorithms underestimated warfarin doses in VKORC1 1173C carriers. We aimed to develop and validate a new warfarin dosing algorithm for Korean patients with VKORC1 1173C.METHODS: A total of 109 patients carrying VKORC1 1173CT (N=105) or 1173CC (N=4) were included in this study. Multiple regression analysis was performed to deduce a new dosing algorithm. Following literature searches for genotype-guided warfarin dosing algorithms, 21 algorithms were selected and evaluated using the correlation coefficient (ρ) of actual dose and estimated dose, mean error, and root mean square error.RESULTS: The developed algorithm is as follows: maintenance dose (mg/week)=exp [3.223−0.009×(age)+0.577×(body surface area [BSA])+0.178×(sex)−0.481×(CYP2C9 genotype)+0.227×(VKORC1 genotype)]. Integrated variables explained 44% of the variance in the maintenance dose. The predicted and actual doses showed moderate correlation (ρ=0.641) with the best performance with a mean error of −1.30 mg/week. The proportion of underestimated groups was 17%, which was lower than with the other algorithms.CONCLUSIONS: This is the first study to develop and validate a warfarin dosing algorithm based on data from VKORC1 1173C carriers; it showed superior predictive performance compared with previously published algorithms.


Assuntos
Genótipo , Humanos , Coreia (Geográfico) , Grupos Populacionais , Varfarina
17.
Biosci. j. (Online) ; 35(6): 1708-1717, nov./dec. 2019. tab, graf
Artigo em Inglês | LILACS (Américas) | ID: biblio-1049095

RESUMO

Studies on the determination of genetic divergence among genotypes are important tools in breeding programs, contributing to the identification of parents with considerable productive potential. However, little is known about the combinatorial capacity of sweet potato (Ipomoea batatas) accessions and its adaptation to the different regions of Brazil. The objective of this study was to evaluate the morpho-agronomic traits from 102 sweet potato accessions from the Germplasm Bank of Embrapa Hortaliças. The experiment was laid out as an augmented block design comprised of 102 treatments. Nineteen above ground traits were measured using descriptors for the respective parts. Estimated values of broad sense heritability were high for the traits mean branch length (95.75%), immature leaf color (85.06%), and predominant branch color (90.57%). Coefficients of environmental variation were below 30.00% for all variables, except for branch weight (51.62%). The 102 clones analyzed presented broad genetic variability for the different traits evaluated, especially for branch weight, and branch length, and mature leaf color.


Estudos de determinação de divergência genética entre genótipos são ferramentas de grande importância em programas de melhoramento, auxiliando na identificação de genitores com considerável potencial produtivo. No entanto, pouco ainda se sabe sobre a capacidade combinatória de acessos de batata-doce (Ipomoea batatas) e sobre a adaptação a diferentes regiões do Brasil. O objetivo deste trabalho foi avaliar características agronômicas de 102 acessos de batata-doce mantidos no Banco de Germoplasma da Embrapa Hortaliças. O experimento foi instalado utilizando o delineamento em blocos aumentados, com 102 tratamentos. Foram mensuradas 19 características da parte aérea utilizando-se descritores das respectivas partes. Os valores das estimativas de herdabilidade no sentido amplo foram altos para as características comprimento médio das ramas (95,75%), cor da folha imatura (85,06%) e cor predominante da rama (90,57%). Os coeficientes de variação foram inferiores a 30 % para todas as variáveis, exceto para peso das ramas (51.62%). Os 102 clones analisados apresentaram ampla variabilidade genética para as diferentes características avaliadas, principalmente para peso das ramas, comprimento das ramas e cor da folha madura


Assuntos
Ipomoea batatas , Melhoramento Vegetal , Banco de Sementes , Genótipo
18.
Acta amaz ; 49(4): 277-282, out. - dez. 2019.
Artigo em Inglês | LILACS (Américas) | ID: biblio-1118937

RESUMO

The search for alternatives to increase productivity and sustainability of livestock production in the Amazon region without increasing deforestation is challenging. Mixed pastures of grasses with forage peanut (Arachis pintoi) have shown positive economic impacts. However, gaps in the knowledge of the reproductive biology of A. pintoi have limited the development of new cultivars adapted to the environmental variations in the Brazilian Amazon. Pasture consortiums of Brachiaria humidicola with forage peanuts (cv. Mandobi) resulted in a 42% increase in weight gain productivity. New cultivars better adapted to the Amazon climate should bring even greater gains. We evaluated the mating system in twenty A. pintoi accessions, and approximately 40 offspring per accession genotyped with eight microsatellites (or markers). The parameters of genetic diversity and inbreeding, the outcrossing rate and coancestry were calculated. The observed heterozygosity was significantly higher and the fixation index was significantly lower in adults compared with the offspring. The crossing rate was variable among genotypes (2 to 80%), and the mean outcrossing rate was 36%. These results indicate that pollinator presence in pastures can influence gene flow in A. pintoi more than expected. Arachis pintoi presented a mixed mating system with a predominance of selfing, and families presented inbreeding and different levels of relatedness. New strategies of genotype conservation are needed to avoid pollinator-mediated crossing between accessions. (AU)


Assuntos
Arachis , Comportamento Sexual Animal , Cruzamento , Ecossistema Amazônico , Genótipo
19.
Arq. bras. med. vet. zootec. (Online) ; 71(5): 1695-1702, set.-out. 2019. tab
Artigo em Português | LILACS (Américas), VETINDEX | ID: biblio-1038648

RESUMO

Utilizaram-se registros de pesos corporais padronizados aos 120, 210, 365 e 450 dias de idade, provenientes de 30.481 animais da raça Nelore, progênies de 211 reprodutores acasalados com 19.229 matrizes, oriundos de rebanhos dos estados de Mato Grosso, Mato Grosso do Sul e Goiás, com o objetivo de avaliar a presença de interação genótipo x ambiente entre os estados. As estimativas de herdabilidade entre os estados variaram de 0,09 a 0,14; 0,11 a 0,17; 0,16 a 0,27 e 0,17 a 0,35, respectivamente, para os pesos 120, 210, 365 e 450 dias de idade. As estimativas de correlação genética aditiva entre a mesma característica para os diferentes estados apresentaram valores inferiores a 0,80. As correlações de Spearman entre os valores genéticos para os pesos corporais se reduziram à medida que se aumentou a intensidade de seleção sobre os reprodutores. A presença de interação genótipo x ambiente causa maior impacto sobre a avaliação genética dos reprodutores sob intensidade de seleção elevada, sendo interessante sua consideração no processo de avaliação genética. Estimativas de tendências genéticas para todos os pesos corporais apresentaram-se crescentes ao longo dos anos nos três estados.(AU)


Data of adjusted alive weights at 120, 210, 365 and 450 days of age of 30,481 records of animals of the Nellore beef cattle breed from herds of states of Mato Grosso, Mato Grosso do Sul, and Goiás were used to study the influence of environment genotype interaction on genetic evaluation of sires. Estimates of heritability between the states ranged from 0.09 to 0.14; 0.11 to 0.17; 0.16 to 0.27 and 0.17 to 0.35, respectively for live weights 120, 210, 365 and 450 days of age. The estimates of additive genetic correlation between the same characteristic for the different states presented values lower than 0.80. Spearman correlations between breeding values obtained from live weights of sires lowered as the intensity of selection on sires increased. The presence of environment genotype interaction has greater impact on the genetic evaluation of breeding under high intensity of selection, being an interesting consideration in the process of genetic evaluation. Estimates of genetic trends for all body weights have been increasing over the years in all three states.(AU)


Assuntos
Animais , Bovinos , Seleção Genética , Bovinos/crescimento & desenvolvimento , Bovinos/genética , Meio Ambiente , Genótipo , Criação de Animais Domésticos/estatística & dados numéricos
20.
J. pediatr. (Rio J.) ; 95(4): 443-450, July-Aug. 2019. tab, graf
Artigo em Inglês | LILACS (Américas) | ID: biblio-1040342

RESUMO

Abstract Objective: Cystic fibrosis diagnosis is dependent on the chloride ion concentration in the sweat test (≥ 60 mEq/mL - recognized as the gold standard indicator for cystic fibrosis diagnosis). Moreover, the salivary glands express the CFTR protein in the same manner as sweat glands. Given this context, the objective was to verify the correlation of saliva chloride concentration and sweat chloride concentration, and between saliva sodium concentration and sweat sodium concentration, in patients with cystic fibrosis and healthy control subjects, as a tool for cystic fibrosis diagnosis. Methods: There were 160 subjects enrolled: 57/160 (35.70%) patients with cystic fibrosis and two known CFTR mutations and 103/160 (64.40%) healthy controls subjects. Saliva ion concentration was analyzed by ABL 835 Radiometer® equipment and, sweat chloride concentration and sweat sodium concentration, respectively, by manual titration using the mercurimetric procedure of Schales & Schales and flame photometry. Statistical analysis was performed by the chi-squared test, the Mann -Whitney test, and Spearman's correlation. Alpha = 0.05. Results: Patients with cystic fibrosis showed higher values of sweat chloride concentration, sweat sodium concentration, saliva chloride concentration, and saliva sodium concentration than healthy controls subjects (p-value < 0.001). The correlation between saliva chloride concentration and sweat chloride concentration showed a positive Spearman's Rho (correlation coefficient) = 0.475 (95% CI = 0.346 to 0.587). Also, the correlation between saliva sodium concentration and sweat sodium concentration showed a positive Spearman's Rho = 0.306 (95% CI = 0.158 to 0.440). Conclusions: Saliva chloride concentration and saliva sodium concentration are candidates to be used in cystic fibrosis diagnosis, mainly in cases where it is difficult to achieve the correct sweat amount, and/or CFTR mutation screening is difficult, and/or reference methods for sweat test are unavailable to implement or are not easily accessible by the general population.


Resumo Objetivo: O diagnóstico da fibrose cística depende do valor da concentração de íons de cloreto no teste do suor (≥ 60 mEq/mL - reconhecido como o indicador-padrão para o diagnóstico da doença). Além disso, as glândulas salivares expressam a proteína RTFC igualmente às glândulas sudoríparas. Nesse contexto, nosso objetivo foi verificar a correlação da concentração de cloreto na saliva e a concentração de cloreto no suor e entre a concentração de sódio na saliva e a concentração de sódio no suor em pacientes com fibrose cística e indivíduos controles saudáveis, como uma ferramenta para diagnóstico de fibrose cística. Métodos: Contamos com a participação de 160 indivíduos [57/160 (35,70%) com fibrose cística e duas mutações no gene RTFC conhecidas e 103/160 (64,40%) indivíduos controles saudáveis]. A concentração de íons na saliva foi analisada pelo equipamento ABL 835 da Radiometer® e a concentração de cloreto no suor e sódio no suor, respectivamente, por titulação manual utilizando o método mercurimétrico de Schales & Schales e fotometria de chama. A análise estatística foi realizada pelo teste qui-quadrado, pelo teste de Mann-Whitney e pela correlação de Spearman. Alpha = 0,05. Resultados: Os pacientes com fibrose cística apresentaram maiores valores na concentração de cloreto no suor, concentração de sódio no suor, concentração de cloreto na saliva e concentração de sódio na saliva do que os indivíduos-controle saudáveis (valor de p < 0,001). A correlação entre as concentrações de cloreto na saliva e cloreto no suor mostrou Rho de Spearman (coeficiente de correlação) positivo = 0,475 (IC de 95% = 0,346 a 0,587). Além disso, a correlação entre concentração de sódio na saliva e concentração de sódio no suor mostrou Rho de Spearman positivo = 0,306 (IC de 95% = 0,158 a 0,440). Conclusões: A concentração de cloreto na saliva e a concentração de sódio na saliva são candidatas a ser usadas como diagnóstico de fibrose cística, principalmente em casos em que é difícil atingir a quantidade correta de suor, e/ou o exame da mutação RTFC é difícil e/ou o método de referência para o teste do suor não se encontra disponível ou não é de fácil acesso ao público em geral.


Assuntos
Humanos , Masculino , Feminino , Recém-Nascido , Lactente , Pré-Escolar , Criança , Adolescente , Adulto , Pessoa de Meia-Idade , Adulto Jovem , Saliva/química , Sódio/química , Suor/química , Cloretos/análise , Regulador de Condutância Transmembrana em Fibrose Cística/análise , Fibrose Cística/diagnóstico , Sódio/metabolismo , Biomarcadores/análise , Estudos de Casos e Controles , Regulador de Condutância Transmembrana em Fibrose Cística/genética , Fibrose Cística/genética , Genótipo
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