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1.
Hum Genet ; 138(6): 681-689, 2019 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-31025105

RESUMEN

In human society, the facial surface is visible and recognizable based on the facial shape variation which represents a set of highly polygenic and correlated complex traits. Understanding the genetic basis underlying facial shape traits has important implications in population genetics, developmental biology, and forensic science. A number of single nucleotide polymorphisms (SNPs) are associated with human facial shape variation, mostly in European populations. To bridge the gap between European and Asian populations in term of the genetic basis of facial shape variation, we examined the effect of these SNPs in a European-Asian admixed Eurasian population which included a total of 612 individuals. The coordinates of 17 facial landmarks were derived from high resolution 3dMD facial images, and 136 Euclidean distances between all pairs of landmarks were quantitatively derived. DNA samples were genotyped using the Illumina Infinium Global Screening Array and imputed using the 1000 Genomes reference panel. Genetic association between 125 previously reported facial shape-associated SNPs and 136 facial shape phenotypes was tested using linear regression. As a result, a total of eight SNPs from different loci demonstrated significant association with one or more facial shape traits after adjusting for multiple testing (significance threshold p < 1.28 × 10-3), together explaining up to 6.47% of sex-, age-, and BMI-adjusted facial phenotype variance. These included EDAR rs3827760, LYPLAL1 rs5781117, PRDM16 rs4648379, PAX3 rs7559271, DKK1 rs1194708, TNFSF12 rs80067372, CACNA2D3 rs56063440, and SUPT3H rs227833. Notably, the EDAR rs3827760 and LYPLAL1 rs5781117 SNPs displayed significant association with eight and seven facial phenotypes, respectively (2.39 × 10-5 < p < 1.28 × 10-3). The majority of these SNPs showed a distinct allele frequency between European and East Asian reference panels from the 1000 Genomes Project. These results showed the details of above eight genes influence facial shape variation in a Eurasian population.


Asunto(s)
Cara/anatomía & histología , Genética de Población , Estudio de Asociación del Genoma Completo/métodos , Polimorfismo de Nucleótido Simple , Adolescente , Adulto , Pueblo Asiatico/etnología , China , Femenino , Frecuencia de los Genes , Genotipo , Humanos , Masculino , Persona de Mediana Edad , Fenotipo , Población Blanca/etnología , Adulto Joven
3.
Science ; 379(6634): 820-825, 2023 02 24.
Artículo en Inglés | MEDLINE | ID: mdl-36758107

RESUMEN

Transient sexual experiences can have long-lasting effects on behavioral decisions, but the neural coding that accounts for this change is unclear. We found that the ejaculation experience selectively activated estrogen receptor 2 (Esr2)-expressing neurons in the bed nucleus of the stria terminalis (BNST)-BNSTEsr2-and led to persistent decreases in firing threshold for days, during which time the mice displayed sexual satiety. Inhibition of hyperexcited BNSTEsr2 elicited fast mating recovery in satiated mice of both sexes. In males, such hyperexcitability reduced mating motivation and was partially mediated by larger HCN (hyperpolarization-activated cyclic nucleotide-gated) currents. Thus, BNSTEsr2 not only encode a specific mating action but also represent a persistent state of sexual satiety, and alterations in a neuronal ion channel contribute to sexual experience-dependent long-term changes to mating drive.


Asunto(s)
Receptor beta de Estrógeno , Motivación , Neuronas , Saciedad , Núcleos Septales , Conducta Sexual Animal , Animales , Femenino , Masculino , Ratones , Neuronas/fisiología , Saciedad/fisiología , Núcleos Septales/fisiología , Conducta Sexual Animal/fisiología , Eyaculación/fisiología , Receptor beta de Estrógeno/antagonistas & inhibidores , Receptor beta de Estrógeno/fisiología
4.
Neurol India ; 69(1): 91-96, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-33642277

RESUMEN

To study the efficacy and safety of intravenous thrombolysis for the older acute ischemic stroke patients, clinical data were prospectively analyzed from 168 patients with acute ischemic stroke including 42 older adult patients (ET group), 66 younger patients (NET group) treated with rt-PA, and 60 older adult patients treated without rt-PA (ENT group). Stroke severity was assessed with an NIHSS score at baseline, 1-day and 14-day after treatment. Functional outcomes were evaluated by the modified Rankin scale and a Barthel index. Adverse effects were observed during the treatment. The rate of "good" prognosis was higher in the ET group than that in the ENT group at 90 days post-stroke. In older patients with stroke, thrombolytic therapy was found to be of greater benefit to patients with lower NIHSS scores at baseline, or patients classified as posterior circulation infarction, than for patients with higher NIHSS scores or infarctions located in other brain regions. Thrombolytic therapy may exhibit long-term efficacy by improving the future quality of life for older stroke patients with fewer bleeding risk factors and lower baseline NIHSS scores.


Asunto(s)
Isquemia Encefálica , Accidente Cerebrovascular Isquémico , Accidente Cerebrovascular , Anciano , Isquemia Encefálica/tratamiento farmacológico , China , Fibrinolíticos/uso terapéutico , Humanos , Calidad de Vida , Accidente Cerebrovascular/tratamiento farmacológico , Terapia Trombolítica , Activador de Tejido Plasminógeno/uso terapéutico , Resultado del Tratamiento
5.
Medicine (Baltimore) ; 100(38): e27260, 2021 Sep 24.
Artículo en Inglés | MEDLINE | ID: mdl-34559129

RESUMEN

INTRODUCTION: Chronic heart failure (CHF) is the end stage of several cardiac diseases. 50% of patients with severe CHF would survive less than 1 year, which has seriously affected patients' survival and quality of life. The current modern therapy could improve survival and quality of life. However, a larger number of patients still suffer from repeated hospitalization, unsatisfactory efficacy, and many side effects. In China, Zhen Wu Decoction (ZWD), a classic prescription recorded in Treatise on Febrile Diseases, was widely used for CHF. In this study, we try to conduct a prospective, double-blinded, randomized, controlled study to evaluate the efficacy and safety of ZWD in the treatment of CHF patients in China. METHODS: Patients will be randomly divided into treatment group and control group in 1:1 ratio. Guideline directed medical therapies and ZWD will be provided for patients in treatment group, while guideline directed medical therapies and ZWD-granules simulations for control group. Left ventricular ejection fraction, left ventricular end diastolic diameter, left ventricular end systolic diameter, b-type natriuretic peptide, NT-proBNP, peak VO2, VO2 maximum, exercise time, and walking distance will be recorded. The data will be analyzed by SPSS 22.0. CONCLUSIONS: The results will evaluate the efficacy and safety of ZWD in the treatment of CHF patients. TRIAL REGISTRATION: OSF registration number: DOI 10.17605/OSF.IO/G3QNU.


Asunto(s)
Protocolos Clínicos , Medicamentos Herbarios Chinos/uso terapéutico , Insuficiencia Cardíaca/tratamiento farmacológico , Método Doble Ciego , Medicamentos Herbarios Chinos/normas , Humanos , Ensayos Clínicos Controlados Aleatorios como Asunto , Estadísticas no Paramétricas
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