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1.
J Med Internet Res ; 26: e52341, 2024 Jun 11.
Artículo en Inglés | MEDLINE | ID: mdl-38861710

RESUMEN

BACKGROUND: Coronary heart disease (CHD) is the leading cause of death globally. In addition, 20% to 40% of the patients with CHD have comorbid mental health issues such as anxiety or depression, affecting the prognosis and quality of life (QoL). Mobile health (mHealth) interventions have been developed and are widely used; however, the evidence for the effects of mHealth interventions on QoL, anxiety, and depression in patients with CHD is currently ambiguous. OBJECTIVE: In this study, we aimed to assess the effects of mHealth interventions on QoL, anxiety, and depression in patients with CHD. METHODS: We searched the Cochrane Library, PubMed, Embase, CINAHL, Web of Science, China National Knowledge Infrastructure, and Wanfang databases from inception to August 12, 2023. Eligible studies were randomized controlled trials that involved patients with CHD who received mHealth interventions and that reported on QoL, anxiety, or depression outcomes. We used the Cochrane risk-of-bias tool for randomized trials to evaluate the risk of bias in the studies, ensuring a rigorous and methodologically sound analysis. Review Manager (desktop version 5.4; The Cochrane Collaboration) and Stata MP (version 17.0; StataCorp LLC) were used to conduct the meta-analysis. The effect size was calculated using the standardized mean difference (SMD) and its 95% CI. RESULTS: The meta-analysis included 23 studies (5406 participants in total) and showed that mHealth interventions significantly improved QoL in patients with CHD (SMD 0.49, 95% CI 0.25-0.72; Z=4.07; P<.001) as well as relieved their anxiety (SMD -0.46, 95% CI -0.83 to -0.08; Z=2.38; P=.02) and depression (SMD -0.34, 95% CI -0.56 to -0.12; Z=3.00; P=.003) compared to usual care. The subgroup analyses indicated a significant effect favoring the mHealth intervention on reducing anxiety and depressive symptoms compared to usual care, especially when (1) the intervention duration was ≥6 months (P=.04 and P=.001), (2) the mHealth intervention was a simple one (only 1 mHealth intervention was used) (P=.01 and P<.001), (3) it was implemented during the COVID-19 pandemic (P=.04 and P=.01), (4) it was implemented in low- or middle-income countries (P=.01 and P=.02), (5) the intervention focused on mental health (P=.01 and P=.007), and (6) adherence rates were high (≥90%; P=.03 and P=.002). In addition, comparing mHealth interventions to usual care, there was an improvement in QoL when (1) the mHealth intervention was a simple one (P<.001), (2) it was implemented in low- or middle-income countries (P<.001), and (3) the intervention focused on mental health (P<.001). CONCLUSIONS: On the basis of the existing evidence, mHealth interventions might be effective in improving QoL and reducing anxiety and depression in patients with CHD. However, large sample, high-quality, and rigorously designed randomized controlled trials are needed to provide further evidence. TRIAL REGISTRATION: PROSPERO CRD42022383858; https://tinyurl.com/3ea2npxf.


Asunto(s)
Ansiedad , Enfermedad Coronaria , Depresión , Calidad de Vida , Ensayos Clínicos Controlados Aleatorios como Asunto , Telemedicina , Humanos , Calidad de Vida/psicología , Enfermedad Coronaria/psicología , Enfermedad Coronaria/complicaciones , Enfermedad Coronaria/terapia , Depresión/terapia , Depresión/psicología , Ansiedad/terapia , Ansiedad/psicología , Masculino , Femenino , Persona de Mediana Edad
2.
Environ Res ; 184: 109300, 2020 05.
Artículo en Inglés | MEDLINE | ID: mdl-32192987

RESUMEN

Soils in large areas of China are enriched in fluorine (F). The present study analyzed F concentrations in cultivated soil, water, chemical fertilizer, and human hair, and metal concentrations in soils from an endemic fluorosis area in Southwest, China. In order to reveal the effects of industry on F concentration in the environment, 3 towns mainly with agriculture production and another 3 towns with developed phosphorus chemical industry in a same city were selected for sample collection. The total F concentrations of the 277 surface agricultural soil samples were 378.79-1576.13 µg g-1, and F concentrations of nearly 95% of the soil samples were higher than the Chinese average topsoil F concentration (480 µg g-1). Only a small fraction (0.75%) of total F was water soluble. The average total F, water soluble F, Ca, Cr, Fe, K, Mn, Rb, and Sr concentrations in soil samples from towns with intensive industry were higher than those from towns mainly with agriculture. Significant correlations were found between soil pH with total F (p < 0.01) and with water soluble F concentration (p < 0.1). Low F concentrations (<0.5 mg L-1) were found in irrigation water, well water and tap water in a town where the industry is dense. The phosphorus fertilizer and compound fertilizer had hundreds of times of contribution to soil F increment than the nitrogen fertilizer and potassium fertilizer. Nearly half percent of F in the human hair samples was of exogenic origin. Based on soil ingestion pathway, the health risk for adults exposure to F in soils was acceptable, however, F may pose possible health risks to children in high F concentration areas.


Asunto(s)
Flúor , Contaminantes del Suelo , Adulto , Agricultura , Niño , China , Fertilizantes/análisis , Flúor/análisis , Flúor/toxicidad , Humanos , Suelo , Contaminantes del Suelo/análisis
3.
Ecotoxicol Environ Saf ; 190: 110087, 2020 Mar 01.
Artículo en Inglés | MEDLINE | ID: mdl-31869720

RESUMEN

Understanding the interactions between humic acid colloid (HAC) and vanadium (V) in soils is of great importance in forecasting the behaviors and fates of V in the soil and groundwater systems. This study investigated the characteristics and factors that affect V adsorption-desorption by the HAC; meanwhile, we also explored the co-transport of the HAC and V in a saturated porous media. Scanning Electronic Microscopy micrographs showed the variation of morphological features on the surface of the HAC before and after V adsorption. Fourier transform infrared spectroscopy spectra revealed that the presence of hydroxyl, carboxyl, carbonyl, carbon-carbon double bond, amino, and aromatic ring on the HAC participated in V adsorption. The adsorption isotherms were well described by the Langmuir model, and the adsorption kinetics of the HAC was better described by the pseudo-first-order kinetic models. The adsorption-desorption was strongly dependent on the initial V concentration, solution pH, and temperature. The maximum adsorption amount was 861.17 mg g-1 by 200 mg L-1 HAC at the initial V concentration of 500 mg L-1, and the corresponding desorption amount was 15.13 mg g-1. These results showed that the HAC had high fixation capacity of V in soil. In addition, the HAC sped up the mobility of V; however, it decreased mass of migration of V in the saturated quartz sand column. These results are expected to provide insight into the potential impact of HAC on geochemical behaviours of V in vulnerable ecosystems.


Asunto(s)
Contaminantes del Suelo/química , Vanadio/química , Adsorción , Coloides/química , Ecosistema , Agua Subterránea , Sustancias Húmicas , Concentración de Iones de Hidrógeno , Cinética , Porosidad , Cuarzo , Suelo/química , Contaminantes del Suelo/análisis , Espectroscopía Infrarroja por Transformada de Fourier , Simportadores
4.
Ecotoxicol Environ Saf ; 195: 110463, 2020 Jun 01.
Artículo en Inglés | MEDLINE | ID: mdl-32182531

RESUMEN

Microbial treatment for vanadium contamination of soils is a favorable and environment-friendly method. However, information of the resistant mechanism of the strains in soils to vanadium, especially to tetravalent vanadium [vanadium(IV)], is still limited. Herein, potential of the vanadium(IV) biosorption and biotransformation of the strains (4K1, 4K2, 4K3 and 4K4) which were capable of tolerating vanadium(IV) was determined. For biosorption, the bioadsorption and the bioabsorption of vanadium(IV) occur on the bacterial cell wall and within the cell, respectively, were taken into consideration. Comparison of the vanadium(IV) adsorbed on the bacterial cell walls and remained in the cells after sorption indicated the major bacterial vanadium(IV) sorption role of the bioadsorption which was at least one order of magnitude higher than the bioabsorption amount. Isotherm study using various isotherm models revealed a monolayer and a multilayer vanadium(IV) biosorption by 4K2 and the others (4K1, 4K3 and 4K4), respectively. Higher biosorption was observed in acidic conditions than in alkaline conditions, and the maximum biosorption was 2.41, 9.35, 7.76 and 8.44 mg g-1 observed at pH 6 for 4K1, at pH 3 for 4K2, and at pH 4 for 4K3 and 4K4, respectively. At the present experimental range of the initial vanadium(IV) concentration, optimal biosorption capacity of the bacteria was observed at the vanadium(IV) level of 100-250 mg L-1. Different biotransformation level of vanadium(IV) in soils by the stains was observed during a 28-d pot incubation of the soils mixed with the strains, which can be attributed to the discrepancy of both soil properties and bacterial species. Present study can help to fill up the gaps of the insufficient knowledge of the vanadium(IV) resistant mechanism of the strains in soils.


Asunto(s)
Bacterias/metabolismo , Contaminantes del Suelo/metabolismo , Vanadio/metabolismo , Adsorción , Bacterias/efectos de los fármacos , Bacterias/aislamiento & purificación , Biotransformación , Óxido Ferrosoférrico , Concentración de Iones de Hidrógeno , Minería , Suelo/química , Microbiología del Suelo , Contaminantes del Suelo/toxicidad , Titanio , Vanadio/toxicidad
5.
J Biomed Sci ; 23(1): 48, 2016 Jun 07.
Artículo en Inglés | MEDLINE | ID: mdl-27266699

RESUMEN

BACKGROUNDS: Down syndrome (DS), caused by triplication of human chromosome 21, is the most common aneuploidies. The main characteristic of DS patients is intellectual disability. MicroRNAs (miRNAs) play important regulatory roles in various biological processes, such as embryonic development, cell differentiation, proliferation and apoptosis. Several miRNAs have shown association with DS. However, the role of miRNAs in DS patients has not been well elaborated. METHODS: In this research, total RNA extracted from fetal hippocampal tissues was used to analyze miRNA and mRNA expression via Affymetrix miRNA 4.0 and PrimeView Human Gene Expression Array, respectively. Then miRNA and gene expression profiles were integrated by correlation analysis to identify dysregulated miRNAs with their predicted target mRNAs. Microarray data were further validated by real-time PCR. Regulation of zeste homolog 2 (EZH2) expression by hsa-miR-138 was determined by luciferase reporter assay. RESULTS: We analyzed microRNA expression profile in hippocampal tissues from DS fetal using miRNA microarray. Further with the use of mRNA microarray data, we integrate miRNA expression and mRNA expression in hippocampus of trisomy 21 fetus to elucidate the mechanism that underlying DS abnormalities. We characterized the repertoire of specific miRNAs involved in hippocampus in trisomy 21 patients, highlighting hsa-miR-138 and hsa-miR-409, in particular the importance of hsa-miR-138, especially the -5p strand. Furthermore, the expression level of predicted target genes of hsa-miR-138-5p in trisomy 21 fetus, including zeste homolog 2 (EZH2) were further confirmed. In addition, luciferase assay indicated that EZH2 was a direct target of hsa-miR-138 in HEK293T cells. CONCLUSION: The function of hsa-miR-138-5p and its target EZH2 was involved in hippocampus in DS patients. Our findings provide a clue to study the underlying molecular mechanisms in DS patients, and its potential contribution in improving understanding of intellectual disability development in DS patients.


Asunto(s)
Síndrome de Down/embriología , Proteína Potenciadora del Homólogo Zeste 2/biosíntesis , Feto/metabolismo , Regulación del Desarrollo de la Expresión Génica , Hipocampo/embriología , MicroARNs/biosíntesis , ARN Mensajero/biosíntesis , Síndrome de Down/genética , Síndrome de Down/patología , Proteína Potenciadora del Homólogo Zeste 2/genética , Femenino , Feto/patología , Perfilación de la Expresión Génica , Hipocampo/patología , Humanos , Masculino , MicroARNs/genética , ARN Mensajero/genética
6.
J Stroke Cerebrovasc Dis ; 24(9): 2060-8, 2015 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-26159646

RESUMEN

BACKGROUND: Ischemic stroke (IS) is a multifactorial disease that displays a strong genetic predisposition. However, the genetic architecture of IS has yet to be fully elucidated. It was hypothesized that epistasis between genes in multiple atherothrombotic pathways may play a vital role in determining the susceptibility to IS. The aim of the present study was to investigate the contributions of the hypothesized genetic factors to IS and the interactions between these genetic factors in a Chinese population. METHODS: In this study, 351 cases with IS and 417 control subjects from a Chinese population were genotyped for single-nucleotide polymorphisms (SNPs) in 12 genes hypothesized to be involved in atherosclerosis, coagulation, and related pathways. We examined SNP main effects and epistatic interactions between these polymorphic loci. RESULTS: rs710446 of the KNG1 gene was associated with IS susceptibility based on an additive genetic model (rs710446: P = .012; odds ratio [OR], 1.247; 95% confidence interval [CI], 1.050-1.481) after adjusting for covariates. Furthermore, an epistatic interaction between the ALOX5AP, THBD, and KNG1 gene was also identified in association with stroke susceptibility (P < .001 after 1000 permutations). Based on the chi-squared test, the OR of the high-risk combination of the three-locus model increased the risk of IS by 2.53-fold (95% CI, 1.60-4.01; P < .0001). CONCLUSIONS: Our findings support the association of the epistatic interactions of ALOX5AP, THBD, and KNG1 and present novel evidence for the main effect of KNG1 gene on IS susceptibility, suggesting a modulation of stroke risk by a genetic main effect and gene-gene interactions.


Asunto(s)
Proteínas Activadoras de la 5-Lipooxigenasa/genética , Epistasis Genética/genética , Predisposición Genética a la Enfermedad/genética , Quininógenos/genética , Polimorfismo de Nucleótido Simple/genética , Accidente Cerebrovascular/genética , Trombomodulina/genética , Anciano , Pueblo Asiatico/genética , Isquemia Encefálica/complicaciones , Isquemia Encefálica/epidemiología , Isquemia Encefálica/genética , China/epidemiología , Femenino , Genotipo , Humanos , Masculino , Persona de Mediana Edad , Oportunidad Relativa , Factores de Riesgo , Accidente Cerebrovascular/epidemiología , Accidente Cerebrovascular/etiología
7.
Guang Pu Xue Yu Guang Pu Fen Xi ; 34(4): 937-41, 2014 Apr.
Artículo en Zh | MEDLINE | ID: mdl-25007604

RESUMEN

Near infrared spectroscopy (NIR) was used in this experiment to evaluate the freshness of ice-stored large yellow croaker (Pseudosciaena crocea) during different storage periods. And the TVB-N was used as an index to evaluate the freshness. Through comparing the correlation coefficent and standard deviations of calibration set and validation set of models established by singly and combined using of different pretreatment methods, different modeling methods and different wavelength region, the best TVB-N models of ice-stored large yellow croaker sold in the market were established to predict the freshness quickly. According to the research, the model shows that the best performance could be established by using the normalization by closure (Ncl) with 1st derivative (Dbl) and normalization to unit length (Nle) with 1st derivative as the pretreated method and partial least square (PLS) as the modeling method combined with choosing the wavelength region of 5 000-7 144, and 7 404-10 000 cm(-1). The calibration model gave the correlation coefficient of 0.992, with a standard error of calibration of 1.045 and the validation model gave the correlation coefficient of 0.999, with a standard error of prediction of 0.990. This experiment attempted to combine several pretreatment methods and choose the best wavelength region, which has got a good result. It could have a good prospective application of freshness detection and quality evaluation of large yellow croaker in the market.


Asunto(s)
Análisis de los Alimentos/métodos , Alimentos Marinos , Espectroscopía Infrarroja Corta , Animales , Calibración , Almacenamiento de Alimentos , Hielo , Análisis de los Mínimos Cuadrados , Perciformes
8.
J Orthop Surg Res ; 19(1): 267, 2024 Apr 27.
Artículo en Inglés | MEDLINE | ID: mdl-38678260

RESUMEN

PURPOSE: Assessing the clinical effectiveness of combining with the first dorsal (plantar) metatarsal artery pedicle free bilobed flap with a cell scaffold to repair mid-distal defects in adjacent fingers. METHODS: From September 2012 to April 2022, 21 patients with 42 mid-distal defects of adjacent fingers underwent treatment using combined with the first dorsal (plantar) metatarsal artery pedicle free bilobed flap with a cell scaffold. The flaps size ranged from 2.1 cm * 1.6 to 4.9 cm * 3.2 cm. Follow-up evaluations included assessing function, sensation, and appearance, etc. of the injured fingers and donor areas. RESULTS: All 42 flaps survived in 21 patients without any vascular crises, and the wounds healed in phase I. The mean follow-up time was 12.2 months (range 7-22 months). During follow-up, in injured fingers, according to the Michigan Hand Outcomes Questionnaire (MHOQ), the functional recovery and appearance were satisfactory; in Dargan Function Evaluation (DFE), the results were both "excellent" in fourteen patients, "excellent" and "good" in five patients, both "good" in one patient, "good" and "general" in one. In static two-point discrimination (2PD), the variation ranges from 4 to 9 mm in injured fingers and 6-10 mm in donor toes. Cold Intolerance Severity Score (CISS) is mild in all patients. The visual analogue score (VAS) showed no pain in the injured fingers and donor toes. No deformities or other complications were noted at the donor toes. According to Chinese Manchester Foot Pain and Disability Index (C-MFPDI), there was no morbidity on foot function in all donor areas. CONCLUSION: The surgical procedure of combined with the first dorsal (plantar) metatarsal artery pedicle free bilobed flap with a cell scaffold for the repair of mid-distal adjacent fingers defect is highly satisfactory. This approach helps the injured fingers to achieve good function, sensibility and appearance, while also achieving satisfactory results in the donor toes.


Asunto(s)
Traumatismos de los Dedos , Procedimientos de Cirugía Plástica , Humanos , Masculino , Adulto , Femenino , Estudios Retrospectivos , Traumatismos de los Dedos/cirugía , Persona de Mediana Edad , Adulto Joven , Procedimientos de Cirugía Plástica/métodos , Colgajos Tisulares Libres , Estudios de Seguimiento , Resultado del Tratamiento , Andamios del Tejido , Adolescente , Arterias/cirugía
9.
ACS Appl Mater Interfaces ; 16(14): 17493-17505, 2024 Apr 10.
Artículo en Inglés | MEDLINE | ID: mdl-38563126

RESUMEN

The long-term stability of Li-S batteries is significantly compromised by the shuttle effect and insulating nature of active substance S, constraining their commercialization. Developing efficient catalysts to mitigate the shuttle effect of lithium polysulfides (LiPSs) is still a challenge. Herein, we designed and synthesized a rose-like cobalt-nickel bimetallic oxide catalyst NiCo2O4-OV enriched with oxygen vacancies (OV) and verified the controllable synthesis of different contents of OV. Introducing the OV proved to be an efficient approach for controlling the electronic structure of the electrocatalyst and managing the absorption/desorption processes on the reactant surface, thereby addressing the challenges posed by the LiPS shuttle effect and sluggish transformation kinetics in Li-S batteries. In addition, we investigated the effect of OV in NiCo2O4 on the adsorption capacity of LiPSs using adsorption experiments and density functional theory (DFT) simulations. With the increase in the level of OV, the binding energy between the two is enhanced, and the adsorption effect is more obvious. NiCo2O4-OV contributes to the decomposition of Li2S and diffusion of Li+ in Li-S batteries, which promotes the kinetic process of the batteries.

10.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 30(2): 199-202, 2013 Apr.
Artículo en Zh | MEDLINE | ID: mdl-23568735

RESUMEN

OBJECTIVE: To identify potential mutations of retinoschisis 1 (RS1) gene responsible for X-linked retinoschisis (XLRS) in two Chinese families. METHODS: The 6 exons and flanking intronic regions were analyzed with PCR and direct sequencing. RESULTS: Two RS1 mutations were identified in the two families, which included 1 frameshift mutation (c.573delG, p.Pro192fs) and 1 missense mutation (c.626G>A, p.Arg209His). CONCLUSION: Two RS1 mutations have been identified, among which Pro192fs mutation is discovered for the first time in Chinese population. Above results may enrich our understanding of the clinical manifestations of XLRS and facilitated early diagnosis and genetic counseling for the disease.


Asunto(s)
Proteínas del Ojo/genética , Enfermedades Genéticas Ligadas al Cromosoma X/genética , Mutación , Diagnóstico Prenatal , Retinosquisis/genética , Adolescente , Adulto , Femenino , Enfermedades Genéticas Ligadas al Cromosoma X/diagnóstico , Humanos , Masculino , Persona de Mediana Edad , Retinosquisis/diagnóstico
11.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 30(4): 439-42, 2013 Aug.
Artículo en Zh | MEDLINE | ID: mdl-23926012

RESUMEN

OBJECTIVE: To analyze CYP17A1 gene mutations in a child patient with 17 alpha-hydroxylase/17, 20-lyase deficiency (17OHD), and to review characteristics of CYP17A1 gene mutations in Chinese patients with 17OHD. METHODS: Clinical data were collected. PCR and DNA sequencing were performed to detect mutations in the patient. RESULTS: The patient has presented classical features of 17OHD including hypertension, hypokalemia, decreased sex hormones and plasma cortisol, and elevated blood adrenocorticotrophic hormone. A compound heterozygous mutation c.987C>A and c.985del was detected in the CYP17A1 gene, which resulted in two premature stop codons at positions 328 and 417. CONCLUSION: A compound mutation, c.987C>A and c.985del, has been identified in a patient with 17OHD. Among CYP17A1 gene mutations identified in Chinese patients, missence mutations have been most common, and exons 5 and 8 have been the mutation hotspots.


Asunto(s)
Hiperplasia Suprarrenal Congénita/enzimología , Liasas/genética , Mutación , Esteroide 17-alfa-Hidroxilasa/genética , Adolescente , Hiperplasia Suprarrenal Congénita/genética , Secuencia de Bases , Femenino , Humanos , Liasas/deficiencia , Datos de Secuencia Molecular
12.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 30(1): 40-4, 2013 Feb.
Artículo en Zh | MEDLINE | ID: mdl-23450477

RESUMEN

OBJECTIVE: To investigate the efficiency of multiplex ligation-dependent probe amplification (MLPA) combined with short tandem repeat (STR) linkage analysis for the prenatal diagnosis for Duchenne muscular dystrophy (DMD). METHODS: Gender of the fetus was first determined by the presence of Y chromosome sex-determining gene (SRY). Subsequently, combined MLPA and STR linkage analysis were applied for the probands, pregnant women and fetuses in 45 affected families. RESULTS: Among the 45 families, 31 SRY-positive fetuses were identified, among whom six were diagnosed with DMD. For 14 SRY-negative fetuses, four were diagnosed as carriers. The remainders were normal. CONCLUSION: MLPA can detect mutations in the exons of dystrophin gene, whilst STR linkage analysis can determine whether the fetus has inherited the maternal X chromosome bearing the mutant gene. As the result, the method can detect affected fetuses in which no exonic mutations are detected with MLPA. By combining the two methods, the diagnostic rate for DMD can be greatly improved.


Asunto(s)
Repeticiones de Microsatélite , Distrofia Muscular de Duchenne/diagnóstico , Distrofia Muscular de Duchenne/genética , Distrofina/genética , Exones , Femenino , Ligamiento Genético , Heterocigoto , Humanos , Masculino , Reacción en Cadena de la Polimerasa Multiplex , Mutación , Embarazo , Diagnóstico Prenatal
13.
Zhonghua Fu Chan Ke Za Zhi ; 48(2): 86-91, 2013 Feb.
Artículo en Zh | MEDLINE | ID: mdl-23544487

RESUMEN

OBJECTIVE: To assess the frequency and significance of maternal cell contamination (MCC) in the invasive prenatal diagnosis, and to analysis the MCC effect on prenatal diagnosis results. METHODS: Totally 519 amniotic fluid samples from second trimester pregnancy, 57 chorionic villus samples from first trimester pregnancy, and 576 blood samples from corresponded pregnant women were collected and genotyped by Promega PowerPlex 16 system. MCC was determined according to the genotyping results. Karyotypic and molecular diagnosis results were contrasted between MCC and non-MCC specimen of the same fetal. RESULTS: MCC presented in 3.1% (16/519) uncultured amniotic fluid, 1.3% (7/519) cultured amniotic fluid and 5% (3/57) villi specimens. In the study of fetal karyotype, MCC had no significant effect on normal female fetus; but for male fetus and abnormal female fetus, there were risk of erroneous results of mosaics. As to molecular diagnosis, MCC resulted in more complex effects for the different diagnostic methods. And 10%MCC had led to misdiagnosis. CONCLUSIONS: For the prenatal cytogenetic tests, MCC should be excluded when there were mosaicism karyotype results or suspicious MCC of chorionic villi samples. The effects of MCC had more seriously impact on prenatal molecular testing, which suggesting the recommend regular identity test for MCC should be carried out.


Asunto(s)
Líquido Amniótico/citología , Artefactos , Errores Diagnósticos/prevención & control , Diagnóstico Prenatal/métodos , Manejo de Especímenes/métodos , Adulto , Amniocentesis/métodos , Amniocentesis/normas , Líquido Amniótico/química , Células Cultivadas , Muestra de la Vellosidad Coriónica/métodos , Muestra de la Vellosidad Coriónica/normas , ADN/análisis , Contaminación de ADN , Femenino , Humanos , Cariotipificación , Masculino , Técnicas de Diagnóstico Molecular , Reacción en Cadena de la Polimerasa/métodos , Embarazo , Diagnóstico Prenatal/normas , Manejo de Especímenes/normas , Secuencias Repetidas en Tándem
14.
Zhonghua Fu Chan Ke Za Zhi ; 47(11): 813-7, 2012 Nov.
Artículo en Zh | MEDLINE | ID: mdl-23302120

RESUMEN

OBJECTIVE: To investigate the clinical value of non-invasive prenatal diagnosis using cell free fetal DNA (cff-DNA) in maternal blood. METHODS: From Sep. 2010 to Mar. 2012, 103 pregnant women who came to Henan Province People's Hospital in the first trimester for prenatal diagnosis of sex-linked inherited diseases were included in the first trimester group. From Oct. 2010 to Jan. 2012, 205 pregnant women undergoing amniotic fluid sampling for fetal karyotype analysis in the same hospital were included in the second trimester group. Real time quantitative PCR and fluorescent PCR were used to detect sex determining region of Y chromosome gene (SRY) and amelogenin gene (AML) on cff-DNA of the first trimester group. Moreover, 12 Y chromosome STR loci analysis were performed for 33 male fetuses and their fathers. Massively Parallel Signature Sequencing (MPSS) was used for aneuploidy analysis in cff-DNA of the second trimester group. RESULTS: (1) In the first trimester group, there were 53 SRY positive and 50 SRY negative. Compared with the results of cff-DNA of chorionic villus samples, there was one SRY false positive and one false negative results, with a sensitivity of 98% and specificity of 98%. For the AML gene test, there were two PCR products of male fetuses:102 bp fragment originating from X chromosome (AML X) and 108 bp fragment from Y chromosome (AML Y); but only AML X was found in products from female fetuses. In the first trimester group, 102 bp and 108 bp fragments were detected in 52 cases, and only 102 bp fragment was found in the other cases. Compared to AML results from chorionic villus samples, there were 2 false negative results, with a sensitivity of 96% and specificity of 100%. (2) For cff-DNA with plasma SRY over 30 copy/ml, Y STR loci were analyzed on cff-DNA of 33 fetuses and their fathers. The Y STR loci less then 200 bp were successfully detected, while Y STR loci with PCR products between 200-300 bp showed low signal or could not be amplicated; and no PCR products more than 300 bp were detected from cff-DNA. Comparing the detected Y STR loci of cff-DNA to the fathers, 32 fetuses were concordant with their fathers'. Exogenous contamination was found in the rest one sample. (3) In the second trimester group, 6 fetuses with abnormal karyotype (two trisomy 21, three trisomy 18 and one 45, XO) were detected by cff-DNA and were proved by karyotype analysis. Moreover, the MPSS results of cff-DNA revealed one 45, Y and one trisomy 16 whose karyotype analysis showed normal results. And in one case, MPSS suggested less chrX or chrY, that was proved to be 47, XYY by karyotype analysis. CONCLUSIONS: (1) Cff-DNA in maternal blood can be used to determine fetal gender in early prenancy with considerable sensitivity and specificity. But the trace cff-DNA and the high maternal DNA background might have impact on the result. (2) Analysis of cff-DNA in maternal blood of the second trimester women showed that MPSS could be used for prenatal screening of trisomy 21 and trisomy 18. However, further research should be done for other chromosomes aneuploidy detection.


Asunto(s)
Aneuploidia , Trastornos de los Cromosomas/diagnóstico , ADN/sangre , Cariotipificación , Diagnóstico Prenatal/métodos , Adulto , Trastornos de los Cromosomas/sangre , Cromosomas Humanos Par 18/genética , Cromosomas Humanos Par 21/genética , Cromosomas Humanos Y/genética , Femenino , Humanos , Masculino , Pruebas de Detección del Suero Materno , Embarazo , Primer Trimestre del Embarazo , Segundo Trimestre del Embarazo , Sensibilidad y Especificidad , Trisomía/diagnóstico
15.
Front Genet ; 13: 875342, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-35571019

RESUMEN

Nearly all living organisms, from cyanobacteria to humans, have an internal circadian oscillation with a periodicity of approximately 24 h. In mammals, circadian rhythms regulate diverse physiological processes including the body temperature, energy metabolism, immunity, hormone secretion, and daily sleep-wake cycle. Sleep is tightly regulated by circadian rhythms, whereas a misalignment between the circadian rhythms and external environment may lead to circadian rhythm sleep disorders (CRSD). CRSD includes four main kinds of disorders: the advanced sleep-wake phase disorder (ASPD), the delayed sleep-wake phase disorder (DSPD), the irregular sleep-wake rhythm disorder and the non-24-h sleep-wake rhythm disorder. Recent studies have begun to shed light on the genetic basis of CRSD. Deciphering the genetic codes for ASPD and DSPD has so far been more successful than the other CRSDs, which allow for the development of animal models and understanding of the pathological mechanisms for these disorders. And studies from humans or animal models implicate CRSDs are associated with adverse health consequences, such as cancer and mental disorders. In this review, we will summarize the recent advances in the genetics, underlying mechanisms and the adverse effects on health of ASPD and DSPD.

16.
J Int Med Res ; 50(2): 3000605221082892, 2022 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-35225699

RESUMEN

This study investigated the surgical method and therapeutic effect of retrograde island flap bridge transfer of the adjacent phalangeal artery combined with vascular pedicle tubular skin grafting to repair finger pulp defects. From June 2008 to May 2020, 21 fingers (19 patients) were repaired using this method. The postoperative flap survival rate and complications, and the clinical effect, were evaluated. All flaps survived, and all patients were followed-up for 12 to 46 months. The static two-point discrimination (2PD) was 7 to 11 mm, no apparent complications were observed in the donor area and the McIndoe cold intolerance symptom severity (CISS) scores indicated mild severity. The Michigan hand outcome questionnaire (MHQ) indicated that all patients were satisfied with their overall hand appearance and function. Results were excellent in 15 cases and good in 4 cases, according to the Dargan function evaluation (DFE). It is safe and effective to repair finger pulp defects with a retrograde island flap bridge transfer of the adjacent phalangeal artery combined with vascular pedicle tubular skin grafting. This skin flap has the advantages of simple severing, good texture and concealed donor area, which is convenient for early postoperative functional exercise of the finger.


Asunto(s)
Traumatismos de los Dedos , Procedimientos de Cirugía Plástica , Arterias/cirugía , Traumatismos de los Dedos/cirugía , Humanos , Procedimientos de Cirugía Plástica/métodos , Trasplante de Piel , Colgajos Quirúrgicos/cirugía , Resultado del Tratamiento
17.
Chemosphere ; 294: 133714, 2022 May.
Artículo en Inglés | MEDLINE | ID: mdl-35065175

RESUMEN

Health risk of F in soil is of special concern due to the continuously elevated concentration of F in soil. However, there is still a dearth of risk assessments of F in soil based on in-vitro bioaccessibility posed by multiple exposure routes. Herein, the oral, inhalation, and dermal bioaccessibility of F in soil was firstly obtained by adapting and combining in-vitro methods, which then was introduced to remedy an information gap of a comprehensive risk of F in soil posed by a multi-exposure pathway. Combined in-vitro tests indicate the oral, inhalation, and dermal bioaccessibility of F was 13.15 ± 2.63%, 16.55 ± 2.63%, and 1.27 ± 0.73%, respectively. Plasma yielded a detoxic potential for the absorbed F after digesting in small intestine, while effects of enzymes, sweat, and food on the oral bioaccessibility of F were insignificant. Different with metals, the major dissolving phase of F was the interstitial fluid in the deep lung instead of in the alveolar macrophages intracellular environment. A potentially major release of F in the exocrine sweat was noted than in the apocrine sweat. Risk assessments based on the daily exposure incorporated with the in-vitro bioaccessibility suggested that compared with inhalation and dermal contact, oral ingestion was the main exposure route of F in soil to human. Present findings provide insights into the bioaccessibility and health risk of F in soil by multiple exposure routes, which are crucial for the risk control of F contamination in soil.


Asunto(s)
Metales Pesados , Contaminantes del Suelo , Disponibilidad Biológica , Monitoreo del Ambiente/métodos , Flúor , Humanos , Metales Pesados/análisis , Fósforo , Medición de Riesgo/métodos , Suelo , Contaminantes del Suelo/análisis
18.
Sci Total Environ ; 759: 144317, 2021 Mar 10.
Artículo en Inglés | MEDLINE | ID: mdl-33338693

RESUMEN

Once the adsorbent is selected, almost introducing larger specific surface area and more surface functional groups becomes the only way to improve its adsorption performance. However, this approach is generally limited in practical application for intricate and costly engineering steps. Herein, we provided a novel avenue for boosting adsorption activities towards specific metal ions in wastewater. Solar-driven interfacial water evaporation produces the localized temperature field and concentration gradient of metal ions inside small pores, endowing with a new sorption mechanism. By using chemically-treated carbonized wood as all-in-one solar absorption and metal ion adsorption system, we achieved higher water evaporation rate and heavy metal ion removal efficiency than carbonization-only wood reported previously. In particular, this system exhibited a strong dependence of specific metal ion adsorption capacity on solar intensity. Pb2+ adsorption capacity was enhanced by over 225% with the solar intensity increased to 3.0 kW·m-2. This could originate from the formed temperature field localized specially on the surface of adsorbents that not only induces Pb2+ concentration gradient near to solid-liquid interface but also activate inactive adsorption sites. Besides, the chemical-treated & carbonized wood showed excellent cyclic stability and can be directly utilized for wastewater treatment, recovery and reuse.


Asunto(s)
Metales Pesados , Contaminantes Químicos del Agua , Adsorción , Iones , Metales Pesados/análisis , Aguas Residuales , Contaminantes Químicos del Agua/análisis , Madera/química
19.
J Immunol Res ; 2021: 5707242, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34285923

RESUMEN

Wear particle-induced periprosthetic osteolysis is mainly responsible for joint replacement failure and revision surgery. Curculigoside is reported to have bone-protective potential, but whether curculigoside attenuates wear particle-induced osteolysis remains unclear. In this study, titanium particles (Ti) were used to stimulate osteoblastic MC3T3-E1 cells in the presence or absence of curculigoside, to determine their effect on osteoblast differentiation. Rat osteoclastic bone marrow stromal cells (BMSCs) were cocultured with Ti in the presence or absence of curculigoside, to evaluate its effect on osteoclast formation in vitro. Ti was also used to stimulate mouse calvaria to induce an osteolysis model, and curculigoside was administrated to evaluate its effect in the osteolysis model by micro-CT imaging and histopathological analyses. As the results indicated, in MC3T3-E1 cells, curculigoside treatment attenuated the Ti-induced inhibition on cell differentiation and apoptosis, increased alkaline phosphatase activity (ALP) and cell mineralization, and inhibited TNF-α, IL-1ß, and IL-6 production and ROS generation. In BMSCs, curculigoside treatment suppressed the Ti-induced cell formation and suppressed the TNF-α, IL-1ß, and IL-6 production and F-actin ring formation. In vivo, curculigoside attenuated Ti-induced bone loss and histological damage in murine calvaria. Curculigoside treatment also reversed the RANK/RANKL/OPG and NF-κB signaling pathways, by suppressing the RANKL and NF-κB expression, while activating the OPG expression. Our study demonstrated that curculigoside treatment was able to attenuate wear particle-induced periprosthetic osteolysis in in vivo and in vitro experiments, promoted osteoblastic MC3T3-E1 cell differentiation, and inhibited osteoclast BMSC formation. It suggests that curculigoside may be a potential pharmaceutical agent for wear particle-stimulated osteolysis therapy.


Asunto(s)
Benzoatos/farmacología , Glucósidos/farmacología , Prótesis Articulares/efectos adversos , Osteólisis/tratamiento farmacológico , Titanio/efectos adversos , Animales , Benzoatos/uso terapéutico , Diferenciación Celular/efectos de los fármacos , Diferenciación Celular/fisiología , Línea Celular , Modelos Animales de Enfermedad , Glucósidos/uso terapéutico , Humanos , Masculino , Ratones , Osteoblastos , Osteoclastos/efectos de los fármacos , Osteoclastos/fisiología , Osteólisis/inducido químicamente , Osteólisis/diagnóstico , Cultivo Primario de Células , Falla de Prótesis/efectos de los fármacos , Microtomografía por Rayos X
20.
Eur J Endocrinol ; 183(3): 245-254, 2020 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-32520725

RESUMEN

OBJECTIVE: To identify CCDC141 variants in a large Chinese cohort with congenital hypogonadotropic hypogonadism (CHH) and to assess the contribution of CCDC141 to CHH. DESIGN: Detailed phenotyping was conducted in CHH patients with CCDC141 variants and co-segregation analysis was performed, when possible. METHODS: Whole-exome sequencing was performed in 177 CHH patients and 450 unrelated, ethnically matched controls from China. RESULTS: Seven novel CCDC141 rare sequencing variants (RSVs) were identified in 12 CHH pedigrees. Four of the variants were private mutations; however, p.Q409X, p.Q871X and p.G1488S were identified in more than one patient. Up to 75% (9/12) of patients had mutations in other CHH-associated genes, which is significantly higher than CHH patients without CCDC141 RSVs. The co-segregation analysis for eight CHH families showed that 75% (6/8) CCDC141 RSVs were inherited from their fertile parents. Over half (58.3%, 8/18) of the patients exhibited other clinical deformities in addition to hypogonadism. One patient harbouring a CCDC141 RSV showed a reversal of CHH after sex-steroid replacement. CONCLUSIONS: Our results broaden the genotypic spectrum of CCDC141 in CHH, as CCDC141 RSVs alone do not appear sufficient to cause CHH. The phenotypic spectrum in patients with CCDC141 RSVs is much wider than originally believed.


Asunto(s)
Hipogonadismo/genética , Hipogonadismo/patología , Proteínas del Tejido Nervioso/genética , China , Estudios de Cohortes , Femenino , Genotipo , Humanos , Masculino , Mutación/genética , Linaje , Fenotipo , Secuenciación del Exoma/métodos
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