RESUMO
This study aimed to explore the relationship between genetic changes and high-altitude pulmonary edema (HAPE) susceptibility, and to screen for the key single nucleotide polymorphism (SNP) loci in the HAPE-susceptibility gene, by investigating the SNPs occurring in hypoxia-related genes in HAPE-susceptible and control (non-susceptible) populations. This research was conducted on Han recruits, who travelled to the Lhasa plateau (altitude, 3658 m). Ten loci located on ten genes extracted from the HAPE and healthy populations were amplified by polymerase chain reaction, and subsequently sequenced. The investigated genes included those coding for aldosterone synthase 2 (CYP11B2), angiotensin-converting enzyme (ACE), heat-shock protein 70 (HSP70), nuclear factor kappa B (NF-κB), surfactant protein A2 (SP-A2), plasminogen activator inhibitor-1 (PAI-1), nitric oxide synthetase (NOS), vascular endothelial growth factor (VEGF), prolyl hydroxylase (EGLN1), and zinc finger protein A20. The gene distribution of each SNP loci and its correlation with HAPE was analyzed. Statistical analyses of the genotype frequencies of the SNPs revealed significant differences in the ACE (rs4309), EGLN1 (rs480902), SP-A2 (rs1965708), HSP70 (rs1008438), PAI-1 (rs1799889), and NOS (rs199983) expressions between the HAPE and healthy control groups (P < 0.05); therefore, these SNP loci were believed to indicate HAPE susceptibility. HAPE is correlated with multiple- SNP loci. A correlation analysis between genetic polymorphism and HAPE susceptibility revealed that 6 hypoxia-related genes were key sites accounting for HAPE. These findings could help assess the risk of HAPE in populations expressing different genotypes, in order to reduce the occurrence of HAPE.
Assuntos
Altitude , Predisposição Genética para Doença , Hipóxia/genética , Polimorfismo de Nucleotídeo Único/genética , Edema Pulmonar/genética , Doença Aguda , Alelos , Sequência de Bases , Análise Mutacional de DNA , Proteínas de Ligação a DNA/genética , Frequência do Gene/genética , Loci Gênicos , Proteínas de Choque Térmico HSP70/genética , Heterozigoto , Homozigoto , Humanos , Peptídeos e Proteínas de Sinalização Intracelular/genética , Dados de Sequência Molecular , NF-kappa B/genética , Óxido Nítrico Sintase/genética , Proteínas Nucleares/genética , Peptidil Dipeptidase A/genética , Inibidor 1 de Ativador de Plasminogênio/genética , Prolil Hidroxilases/genética , Regiões Promotoras Genéticas/genética , Proteína A Associada a Surfactante Pulmonar/genética , Proteína 3 Induzida por Fator de Necrose Tumoral alfa , Fator A de Crescimento do Endotélio Vascular/genéticaRESUMO
OBJECTIVE: The aim of this study was to improve the understanding of FBA in children and to decrease the rate of misdiagnosis, missed diagnosis and morbidity. PATIENTS AND METHODS: We analyzed the clinical features and the three-dimensional reconstructed CT images of 590 children with foreign body aspiration (FBA) in the Xuzhou area of the Jiangsu province. RESULTS: CT imaging revealed common complications of FBA including emphysema (n = 379), pneumonia (n = 174), and atelectasis (n = 26). The remaining 120 patients had no visible complications on the three-dimensional reconstructed CT images. Serious complications including pneumothorax, pneumomediastinum, subcutaneous emphysema, pneumatorrhachis could also be observed. The types of foreign bodies were diverse: the most common were peanuts and sunflower seeds. The diagnostic accuracy of the three-dimensional CT imaging was high, with a sensitivity and specificity of 99.83% and 99.89%, respectively. CONCLUSIONS: 3D CT imaging is an accurate, non-invasive technique to evaluate children with suspected FBA that can help decrease the rate of misdiagnosis and eliminate a delay in treatment for this potentially life-threatening condition.
Assuntos
Corpos Estranhos/diagnóstico por imagem , Broncoscopia/métodos , Criança , Pré-Escolar , Feminino , Humanos , Imageamento Tridimensional/métodos , Lactente , Inalação , Pneumopatias/diagnóstico por imagem , Pneumopatias/etiologia , Masculino , Sensibilidade e Especificidade , Tomografia Computadorizada por Raios X/métodos , Traqueia/diagnóstico por imagemRESUMO
In this case-control study, we attempted to investigate the role of three common single nucleotide polymorphisms (SNPs; -1082G/A rs1800896, -819T/C rs1800871, and -592A/C rs1800872) in the IL-10 gene in the development of abdominal aortic aneurysm in a Chinese population. Three hundred and eighty-one patients with abdominal aortic aneurysm and age- and gender-matched healthy controls (N = 381) were collected between March 2012 and March 2014. The IL-10 -1082G/A, -819T/C, and -592A/C polymorphisms were genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Logistic regression analyses revealed that the AA genotype of IL-10 -1082G/A was associated with an increased risk of abdominal aortic aneurysm compared to the GG genotype in a codominant model [odds ratio (OR) = 1.64, 95% confidence interval (CI) = 1.04-2.60]. Moreover, the GA+AA genotype was correlated with an elevated risk of abdominal aortic aneurysm compared to the GG genotype in a dominant model (OR = 1.34, 95%CI = 1.01-1.79). In conclusion, the results of our study suggested that the A allele of IL-10 -1082G/A is significantly associated with the development of abdominal aortic aneurysm compared to the wide-type genotype.
Assuntos
Aneurisma da Aorta Abdominal/genética , Estudos de Associação Genética , Predisposição Genética para Doença , Interleucina-10/genética , Adulto , Aneurisma da Aorta Abdominal/patologia , Feminino , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Polimorfismo de Nucleotídeo Único , Fatores de RiscoRESUMO
Although RNA-Seq is an effective method for identifying and exploring novel functional genes in mammals, it has rarely been applied to study fertility-related genes in the goat. In this study, RNA-Seq was used to screen the estrus ovaries of uniparous and multiparous Anhui white goats (AWGs). In total, 15,890 genes were identified and 2201 of these were found to be differentially expressed between the genetic libraries from uniparous and multiparous goats. Compared to the uniparous library, 1583 genes were up-regulated and 618 genes were down-regulated in the multiparous library. The FER1L4 gene showed the level of highest up-regulation in the multiparous library, while SRD5A2 expression showed the greatest down-regulation. In order to determine the functions of FER1L4 and SRD5A2 in goats, the expression profiles of the two genes in different tissues from AWGs and Boer goats at diestrus were analyzed by quantitative PCR. FER1L4 and SRD5A2 showed tissue specific expression patterns and were highly expressed in ovaries from both AWGs and Boer goats. FER1L4 was more highly expressed in ovaries from multiparous than uniparous AWGs. In contrast, SRD5A2 was expressed at a lower level in multiparous AWGs. These results indicated that FER1L4 and SRD5A2 may be associated with the high fecundity of AWGs.
Assuntos
3-Oxo-5-alfa-Esteroide 4-Desidrogenase/genética , Proteínas de Ligação ao Cálcio/genética , Fertilidade/genética , Cabras/genética , Paridade/genética , 3-Oxo-5-alfa-Esteroide 4-Desidrogenase/metabolismo , Animais , Proteínas de Ligação ao Cálcio/metabolismo , Estro/genética , Feminino , Perfilação da Expressão Gênica , Regulação da Expressão Gênica , Biblioteca Gênica , Masculino , Especificidade de Órgãos , Ovário/metabolismo , GravidezRESUMO
The purpose of this study was to detect chromosomal aberrations and azoospermia factor (AZF) microdeletions in male patients with reproductive problems and to summarize related clinical features to provide reliable information for evaluating prenatal and preimplantation diagnoses. A large cohort of 5083 men with various phenotypes of male infertility was analyzed via G-banding karyotyping, and Origin 8.0 was used to analyze the prevalence of abnormalities. Additionally, patients with azoospermia, oligozoospermia, and oligoasthenozoospermia were analyzed using multiplex polymerase chain reaction to detect microdeletion in the AZF. We identified 387 patients with abnormal karyotypes, and the ratio was 7.61%. Among them were 175 patients with Klinefelter's syndrome, which was the most common numerical chromosomal abnormality and accounted for 45.22% of all chromosomal aberrations. The frequencies of increased satellites, balanced translocations, and Robertsonian translocations were 6.47, 7.00, and 3.62%, respectively. Multiplex polymerase chain reaction performed in 810 cases with azoospermia, oligozoospermia, and oligoasthenozoospermia found a ratio of AZF microdeletions of 4.94%. The finding suggests that chromosomal abnormalities and AZF deletion are main factors that result in male infertility. Detecting these common genetic variations is necessary in infertile men seeking assisted reproductive technology.