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1.
Zhonghua Zhong Liu Za Zhi ; 46(4): 326-334, 2024 Apr 23.
Artículo en Zh | MEDLINE | ID: mdl-38644268

RESUMEN

Objective: To investigate the endoscopic combined serological diagnosis strategy for G1 and G2 gastric neuroendocrine neoplasms (G-NENs), and to evaluate the safety, short-term, and long-term efficacy of two endoscopic treatment procedures: endoscopic mucosal resection (EMR) and endoscopic submucosal dissection (ESD). Methods: This study retrospectively analyzed the clinical data of 100 consecutive patients with G-NENs who were hospitalized at the Cancer Hospital of the Chinese Academy of Medical Sciences from January 2011 to October 2023. These patients underwent endoscopic treatment, and propensity score matching (PSM) was used to compare clinicopathological characteristics, as well as short-term and long-term efficacy of lesions in the EMR group and ESD group before and after treatment. Results: Among the 100 patients with G-NENs, the median age was 54 years old. Before surgery, 29 cases underwent endoscopic combined serological examination, and 24 of them (82.2%) had abnormally elevated plasma chromogranin A. The combined diagnostic strategy for autoimmune atrophic gastritis (AIG) achieved a diagnostic accuracy of 100%(22/22). A total of 235 G-NEN lesions were included, with 84 in the ESD group and 151 in the EMR group. The median size of the lesions in the ESD group (5.0 mm) was significantly larger than that in the EMR group (2.0 mm, P<0.001). Additionally, the ESD group had significantly more lesions with pathological grade G2[23.8%(20/84) vs. 1.3%(2/151), P<0.001], infiltration depth reaching the submucosal layer [78.6%(66/84) vs. 51.0%(77/151), P<0.001], and more T2 stage compared to the EMR group[15.5%(13/84) vs. 0.7%(1/151), P<0.001]. After PSM, 49 pairs of lesions were successfully matched between the two groups. Following PSM, there were no significant differences in the en bloc resection rate [100.0%(49/49) vs. 100.0%(49/49)], complete resection rate [93.9%(46/49) vs. 100.0%(49/49)], and complication rate [0(0/49) vs. 4.1%(2/49)] between the two groups. During the follow-up period, no recurrence or distant metastasis was observed in any of the lesions in both groups. Conclusions: The combination of endoscopy and serology diagnostic strategy has the potential to enhance the accuracy of diagnosing G1 and G2 stage G-NENs and their background mucosa. Endoscopic resection surgery (EMR, ESD) is a proven and safe treatment approach for G1 and G2 stage G-NENs.


Asunto(s)
Cromogranina A , Resección Endoscópica de la Mucosa , Tumores Neuroendocrinos , Neoplasias Gástricas , Humanos , Neoplasias Gástricas/cirugía , Neoplasias Gástricas/diagnóstico , Neoplasias Gástricas/patología , Neoplasias Gástricas/sangre , Estudios Retrospectivos , Persona de Mediana Edad , Resección Endoscópica de la Mucosa/métodos , Tumores Neuroendocrinos/cirugía , Tumores Neuroendocrinos/diagnóstico , Tumores Neuroendocrinos/sangre , Cromogranina A/sangre , Gastritis Atrófica/diagnóstico , Gastroscopía/métodos , Puntaje de Propensión , Mucosa Gástrica/cirugía , Mucosa Gástrica/patología , Resultado del Tratamiento , Masculino , Femenino , Gastrinas/sangre
2.
Zhonghua Yan Ke Za Zhi ; 59(12): 1058-1064, 2023 Dec 11.
Artículo en Zh | MEDLINE | ID: mdl-38061908

RESUMEN

Biallelic pathogenic variants in the USH2A gene result in Usher syndrome type Ⅱ and non-syndromic retinitis pigmentosa, both of which entail the progressive loss of photoreceptors leading to blindness. The cDNA of the USH2A gene is extensive, consisting of 15 606 base pairs, rendering it impractical for delivery via adeno-associated virus vectors for gene replacement therapy. Notably, exon 13 has emerged as a focal point for therapeutic intervention, given its predilection for harboring the most pathogenic variants within USH2A. Recent intervention studies targeting USH2A exon 13 through the utilization of antisense oligonucleotides, genome editing, and RNA editing approaches have exhibited promising therapeutic potential. This paper provides a comprehensive overview of the molecular mechanisms, outcome data, and the challenges associated with the application of these interventions in this domain.


Asunto(s)
Retinitis Pigmentosa , Síndromes de Usher , Humanos , Síndromes de Usher/genética , Síndromes de Usher/terapia , Retinitis Pigmentosa/genética , Retinitis Pigmentosa/terapia , Exones , Terapia Genética , Proteínas de la Matriz Extracelular/genética , Mutación
3.
Beijing Da Xue Xue Bao Yi Xue Ban ; 54(3): 394-399, 2022 Jun 18.
Artículo en Zh | MEDLINE | ID: mdl-35701114

RESUMEN

OBJECTIVE: To explore whether WNT signaling pathway genes were associated with non-syndromic oral clefts (NSOC) based on haplotypes analyses among 1 008 Chinese NSOC case-parent trios. METHODS: The genome-wide association study (GWAS) data of 806 Chinese non-syndromic cleft lip with or without cleft palate (NSCL/P) trios and 202 Chinese non-syndromic cleft palate (NSCP) case-parent trios were drawn from the International Consortium to Identify Genes and Interactions Controlling Oral Clefts (ICOCs) study GWAS data set, whose Chinese study population were recruited from four provinces in China, namely Taiwan, Shandong, Hubei, and Sichuan provinces. The process of DNA genotyping was conducted by the Center for Inherited Disease Research in the Johns Hopkins University, using Illumina Human610-Quad v.1_B Bead Chip. The method of sliding windows was used to determine the haplotypes for analyses, including 2 SNPs haplotypes and 3 SNPs haplotypes. Haplotypes with a frequency lower than 1% were excluded for further analyses. To further assess the association between haplotypes and NSOC risks, and the transmission disequilibrium test (TDT) was performed. The Bonferroni method was adopted to correct multiple tests in the study, with which the threshold of statistical significance level was set as P < 0.05 divided by the number of tests, e.g P < 3.47×10-4 in the current stu-dy. All the statistical analyses were performed by using plink (v1.07). RESULTS: After quality control, a total of 144 single nucleotide polymorphisms (SNPs) mapped in seven genes in WNT signaling pathway were included for the analyses among the 806 Chinese NSCL/P trios and 202 Chinese NSCP trios. A total of 1 042 haplotypes with frequency higher than 1% were included for NSCL/P analyses and another 1 057 haplotypes with frequency higher than 1% were included for NSCP analyses. Results from the TDT analyses showed that a total of 69 haplotypes were nominally associated with the NSCL/P risk among Chinese (P < 0.05). Another 34 haplotypes showed nominal significant association with the NSCP risk among Chinese (P < 0.05). However, none of these haplotypes reached pre-defined statistical significance level after Bonferroni correction (P>3.47×10-4). CONCLUSION: This study failed to observe any statistically significant associations between haplotypes of seven WNT signaling pathway genes and the risk of NSOC among Chinese. Further studies are warranted to replicate the findings here.


Asunto(s)
Labio Leporino , Fisura del Paladar , Labio Leporino/genética , Fisura del Paladar/genética , Predisposición Genética a la Enfermedad , Estudio de Asociación del Genoma Completo , Genotipo , Haplotipos , Humanos , Polimorfismo de Nucleótido Simple , Vía de Señalización Wnt/genética
4.
J Appl Microbiol ; 130(3): 937-947, 2021 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-32852144

RESUMEN

AIMS: The short-term effects of different organic manure nitrogen (N) input on soil ammonia-oxidizing archaea (AOA) and bacterial (AOB) activity and community structure at maturity stages of early rice and late rice were investigated in the present paper, in a double-cropping rice system in southern China. METHODS AND RESULTS: A field experiment was done by applying five different organic and inorganic N input treatments: (i) 100% N of chemical fertilizer (M0), (ii) 30% N of organic manure and 70% N of chemical fertilizer (M30), (iii) 50% N of organic manure and 50% N of chemical fertilizer (M50), (iv) 100% N of organic manure (M100) and (v) without N fertilizer input as control (CK). Microbial community changes were assessed using fatty acid methyl esters, and ammonia oxidizer (AO) changes were followed using quantitative PCR. The results showed that AOA were higher than that of AOB based upon amoA gene copy at maturity stages of early rice and late rice. Also, the abundance of AOB and AOA with M30, M50 and M100 treatments was significantly higher than that of CK treatment. Manure N input treatments had significant effect on AOB and AOA abundance, and a higher correlation between AOB and manure N input was observed. AOB correlated moderately with soil organic carbon content, and AOA correlated moderately with water-filled pore space. CONCLUSIONS: This study found that abundance of AOB and AOA was increased under the given organic N conditions, and the soil AOB and AOA community and diversity were changed by different short-term organic manure N input treatments. SIGNIFICANCE AND IMPACT OF THE STUDY: Soil microbial community and specific N-utilizing microbial groups were affected by organic manure N input practices.


Asunto(s)
Archaea/metabolismo , Bacterias/metabolismo , Estiércol/análisis , Microbiota , Nitrógeno/metabolismo , Microbiología del Suelo , Amoníaco/metabolismo , Archaea/clasificación , Archaea/genética , Archaea/aislamiento & purificación , Bacterias/clasificación , Bacterias/genética , Bacterias/aislamiento & purificación , China , Fertilizantes/análisis , Nitrógeno/análisis , Oryza/crecimiento & desarrollo , Oryza/microbiología , Suelo/química
5.
Mol Biol (Mosk) ; 54(6): 1006-1017, 2020.
Artículo en Ruso | MEDLINE | ID: mdl-33276364

RESUMEN

In this study, we explored the effects of treating human endometrial cancer cells with γ-synuclein-specific short hairpin RNA (shRNA) and elucidated the associated mechanisms in vitro and in vivo through the p38, extracellular signal-regulated kinase (ERK), and c-Jun N-terminal kinase (JNK) signaling pathways. Cell proliferation and migration were assessed using CCK8, Transwell, and scratch wound healing assays. Flow cytometry and laser scanning confocal microscopy were used to detect cell cycle changes. Relative levels of phosphorylated and non-phosphorylated (p) p38, ERK1/2 and JNK1/2/3 were determined in vitro and in vivo using simple western blotting assays. Cell proliferation in the experimental group decreased significantly and cells transfected with shRNA showed reduced migration rates (P < 0.05). p-p38, p-ERK1/2, and p-JNK1/2/3 levels were downregulated in the experimental group in vitro and in vivo. Tumor volumes and weights in the experimental group were significantly lower (P < 0.05). Tumor formation time in the negative control group was significantly shorter (P < 0.05). Flow cytometry showed that the number of cells in the G1 and mitotic phases increased and that in the S phase decreased after SNCG silencing (P < 0.05). Confocal microscopy showed that the percentage of cells in the mitotic phase increased after SNCG gene silencing (P < 0.05). We conclude that shRNA-mediated suppression of γ-synuclein decreased the proliferation, migration, and tumorigenicity of endometrial cancer cells via downregulation of p38, ERK, and JNK phosphorylation. High SNCG expression is closely related to the growth cycle of endometrial cancer cells.


Asunto(s)
Puntos de Control del Ciclo Celular , Neoplasias Endometriales , Quinasas MAP Reguladas por Señal Extracelular , Proteínas de Neoplasias/genética , ARN Interferente Pequeño/genética , gamma-Sinucleína/genética , Línea Celular Tumoral , Proliferación Celular/genética , Regulación hacia Abajo , Neoplasias Endometriales/genética , Neoplasias Endometriales/patología , Quinasas MAP Reguladas por Señal Extracelular/metabolismo , Femenino , Humanos , Fosforilación , Proteínas Quinasas p38 Activadas por Mitógenos/genética , Proteínas Quinasas p38 Activadas por Mitógenos/metabolismo
6.
Beijing Da Xue Xue Bao Yi Xue Ban ; 52(5): 809-814, 2020 Oct 18.
Artículo en Zh | MEDLINE | ID: mdl-33047712

RESUMEN

OBJECTIVE: Non-syndromic cleft lip with or without cleft palate (NSCL/P) is a common birth defect, affecting 1.4 per 1 000 live births, and multiple genetic and environmental risk factors influencing its risk. All the known genetic risk factors accounted for a small proportion of the heritability. Several authors have suggested parent-of-origin effects (PoO) may play an important role in the etiology of this complex and heterogeneous malformation. To clarify the genetic association between PTCH1, PTCH2, SHH and SMO in hedgehog (HH) pathway and NSCL/P, as well as testing for potential PoO effects in Chinese case-parent trios. METHODS: We tested for transmission disequilibrium tests (TDT) and PoO effects using 83 common single nucleotide polymorphic (SNP) markers of HH pathway genes from 806 NSCL/P case-parent trios. These trios were drawn from an international consortium established for a genome-wide association studies (GWAS) of non-syndromic oral clefts of multiple ethnicities. DNA samples were collected from each trio. Single marker and haplotype based analysis were performed both in TDT tests and PoO effects. SNPs were excluded if they (ⅰ) had a call rate of < 95%, (ⅱ) had a minor allele frequency (MAF) of < 0.05, (ⅲ) had Mendelian errors over all trios of >5%, (ⅳ) had a genotype distribution in the parents that deviated from the Hardy-Weinberg equilibrium (HWE) (P < 0.000 1). The process was done using Plink (version 1.07, http://pngu.mgh.harvard.edu/~purcell/plink/data.shtml). TDT test was performed in Plink v1.07. A log-linear model was used to explore PoO effects using Haplin v6.2.1 as implemented in R package v3.4.2. Significance level was assessed using the Bonferroni correction. RESULTS: A total of 18 SNPs were dropped due to low MAF, thus leaving 65 SNPs available for the analysis. Thus the Bonferroni threshold was 7.7×10-4 (0.05/65). Nominal significant association with NSCL/P was found at a SNP (rs4448343 in PTCH1, P=0.023) and six haplotypes (rs10512249-rs4448343, rs1461208-rs7786445, rs10512249-rs4448343, rs16909865-rs10512249-rs4448343, rs1461208-rs7786445-rs12698335, and rs288756-rs288758-rs1151790, P < 0.05). A total of six haplotypes (rs288765-rs1233563, rs12537550-rs11765352, rs872723-rs288765-rs1233563, rs288765-rs1233563-rs288756, rs6459952-rs12537550-rs11765352, and rs12537550-rs11765352-rs6971211) showed PoO effect (P < 0.05). None of the results remained significant after the Bonferroni correction (P>7.7×10-4). CONCLUSION: Neither significant association between SNPs within HH pathway and the risk of NSCL/P nor PoO effects was seen in this study.


Asunto(s)
Labio Leporino , Fisura del Paladar , Pueblo Asiatico , Labio Leporino/genética , Fisura del Paladar/genética , Estudio de Asociación del Genoma Completo , Proteínas Hedgehog/genética , Humanos , Receptor Patched-2 , Receptor Smoothened
7.
Beijing Da Xue Xue Bao Yi Xue Ban ; 52(5): 815-820, 2020 Oct 18.
Artículo en Zh | MEDLINE | ID: mdl-33047713

RESUMEN

OBJECTIVE: In this study, we used genome-wide association study (GWAS) data to explore whether WNT pathway genes were associated with non-syndromic oral clefts (NSOC) considering gene-gene interaction and gene-environment interaction. METHODS: We conducted the analysis using 806 non-syndromic cleft lip with or without cleft palate (NSCL/P) case-parent trios and 202 non-syndromic cleft palate (NSCP) case-parent trios among Chinese populations selected from an international consortium established for a GWAS of non-syndromic oral clefts. Genotype data and maternal environmental exposures were collected through DNA samples and questionnaires. Conditional Logistic regression models were adopted to explore gene-gene interaction and gene-environment in teraction using trio package in R software. The threshold of significance level was set as 3.47×10-4 using Bonferroni correction. RESULTS: A total of 144 single nucleotide polymorphisms (SNPs) in seven genes passed the quality control process in NSCL/P trios and NSCP trios, respectively. Totally six pairs of SNPs interactions showed statistically significant SNP-SNP interaction (P < 3.47×10-4) after Bonferroni correction, which were rs7618735 (WNT5A) and rs10848543 (WNT5B), rs631948 (WNT11) and rs556874 (WNT5A), and rs631948 (WNT11) and rs472631 (WNT5A) among NSCL/P trios; rs589149 (WNT11) and rs4765834 (WNT5B), rs1402704 (WNT11) and rs358792 (WNT5A), and rs1402704 (WNT11) and rs358793 (WNT5A) among NSCP trios, respectively. In addition, no significant result was found for gene-environment interaction analysis in both of the NSCL/P trios and NSCP trios. CONCLUSION: Though this study failed to detect significant association based on gene-environment interactions of seven WNT pathway genes and the risk of NSOC, WNT pathway genes may influence the risk of NSOC through potential gene-gene interaction.


Asunto(s)
Labio Leporino , Fisura del Paladar , Pueblo Asiatico/genética , Labio Leporino/genética , Fisura del Paladar/genética , Estudio de Asociación del Genoma Completo , Humanos , Vía de Señalización Wnt/genética
8.
Epidemiol Infect ; 147: e72, 2019 01.
Artículo en Inglés | MEDLINE | ID: mdl-30869001

RESUMEN

The seasonality of individual influenza subtypes/lineages and the association of influenza epidemics with meteorological factors in the tropics/subtropics have not been well understood. The impact of the 2009 H1N1 pandemic on the prevalence of seasonal influenza virus remains to be explored. Using wavelet analysis, the periodicities of A/H3N2, seasonal A/H1N1, A/H1N1pdm09, Victoria and Yamagata were identified, respectively, in Panzhihua during 2006-2015. As a subtropical city in southwestern China, Panzhihua is the first industrial city in the upper reaches of the Yangtze River. The relationship between influenza epidemics and local climatic variables was examined based on regression models. The temporal distribution of influenza subtypes/lineages during the pre-pandemic (2006-2009), pandemic (2009) and post-pandemic (2010-2015) years was described and compared. A total of 6892 respiratory specimens were collected and 737 influenza viruses were isolated. A/H3N2 showed an annual cycle with a peak in summer-autumn, while A/H1N1pdm09, Victoria and Yamagata exhibited an annual cycle with a peak in winter-spring. Regression analyses demonstrated that relative humidity was positively associated with A/H3N2 activity while negatively associated with Victoria activity. Higher prevalence of A/H1N1pdm09 and Yamagata was driven by lower absolute humidity. The role of weather conditions in regulating influenza epidemics could be complicated since the diverse viral transmission modes and mechanism. Differences in seasonality and different associations with meteorological factors by influenza subtypes/lineages should be considered in epidemiological studies in the tropics/subtropics. The development of subtype- and lineage-specific prevention and control measures is of significant importance.


Asunto(s)
Subtipo H1N1 del Virus de la Influenza A/fisiología , Subtipo H3N2 del Virus de la Influenza A/fisiología , Gripe Humana/epidemiología , Pandemias , China/epidemiología , Clima , Humanos , Estaciones del Año
9.
Zhonghua Nei Ke Za Zhi ; 58(8): 592-595, 2019 Aug 01.
Artículo en Zh | MEDLINE | ID: mdl-31365981

RESUMEN

Objective: To investigate the effects of chronic intermittent hypoxia on somatotropic axis hormone levels in rats. Methods: Mature male Wistar rats were exposed to air or intermittent hypoxia randomly.The serum levels of growth hormone-releasing hormone (GHRH), growth hormone (GH) and somatostatin (SS) were measured before exposure, at the 4th, 8th, and 12th week after exposure. Different hormone levels in two groups were compared and analyzed. Results: Compared with the control group, GHRH levels in chronic intermittent hypoxic group showed a significant decline at the 4th week [(732.77±46.99)pg/ml vs. (893.59±40.00) pg/ml, P<0.05], while SS levels at the 8th week [(30.71±2.27) pg/ml vs. (44.69±3.36) pg/ml, P<0.05] and GH levels at the 12th week [(1.20±0.29) ng/ml vs. (2.06±0.13) ng/ml, P<0.05] were similarly reduced. As the duration of intermittent hypoxia was prolonged, the GHRH levels did not decrease further [4th week (732.77±46.99) pg/ml vs. 8th week (607.54±131.61) pg/ml vs. 12th week (730.05±40.63) pg/ml, P>0.05].However, the serum SS levels decreased further from the 8th week to the 12th week [(30.71±2.27) pg/ml vs. (24.41±4.06) pg/ml, P<0.05]. Conclusion: Chronic intermittent hypoxia might inhibit the function of somatotropic axis. Hypothalamic hormones are the earlyonesto be influenced, thereafter the entire axis.


Asunto(s)
Hormona Liberadora de Hormona del Crecimiento/sangre , Hormona del Crecimiento/sangre , Hipotálamo , Hipoxia , Somatostatina/sangre , Animales , Masculino , Ratas , Ratas Wistar
10.
Zhonghua Nei Ke Za Zhi ; 58(2): 119-124, 2019 Feb 01.
Artículo en Zh | MEDLINE | ID: mdl-30704198

RESUMEN

Objective: To explore the factors that contribute to the anxiety and depression in obstructive sleep apnea hypopnea syndrome (OSAHS) patients in terms of excessive daytime sleepiness (EDS) and sleep quality. Methods: A total of 196 OSAHS patients, including 103 severe patients and 93 mild-moderate patients, were enrolled. Polysomnography was carried on at the sleep center of the First Hospital of China Medical University between May 2013 and November 2015. According to the Epworth sleepiness scale (ESS) and the subject daytime sleepiness symptom, all patients were divided into EDS group and non-EDS group. The patients' general information and subjective symptoms were recorded. Emotional states were assessed with self-rating anxiety scale (SAS) and self-rating depression scale (SDS). Sleep quality was evaluated with Pittsburgh sleep quality index (PSQI). The anxiety and depression related factors were studied by regression analysis. Results: (1) In severe OSAHS group, the patients with EDS showed higher PSQI(6.22±2.57 vs. 4.05±3.72, P<0.01) and oxygen desaturation index(ODI)[(57.70±17.53) events/h vs. (48.23±22.01) events/h, P<0.05] when compared with those without EDS. (2) In both severe and mild-moderate OSAHS groups, the patients with EDS presented higher SAS scores (severe: 33.86±7.60 vs.28.95±4.71, mild-moderate: 37.46±10.68 vs. 33.40±11.07, P<0.05) and SDS scores (severe: 32.81±8.36 vs. 28.90±4.53, mild-moderate:36.98±12.77 vs. 31.70±10.94, P<0.05) when compared with those without EDS. (3) The multiple regression analysis showed that the SAS scores were related to ESS, PSQI, insomnia and nasal obstruction (R(2)=0.356, P<0.05), and the SDS scores were related to ESS, PSQI and insomnia(R(2)=0.344, P<0.05). Conclusions: The anxiety and depression of OSAHS patients are closely related to the severity of EDS and sleep quality. Both severe and mild-moderate OSAHS patients with EDS have worse anxiety and depression scores.


Asunto(s)
Ansiedad/epidemiología , Depresión/epidemiología , Apnea Obstructiva del Sueño/psicología , Sueño , Somnolencia , China/epidemiología , Humanos , Polisomnografía , Factores de Riesgo , Apnea Obstructiva del Sueño/epidemiología
11.
Beijing Da Xue Xue Bao Yi Xue Ban ; 51(3): 564-570, 2019 Jun 18.
Artículo en Zh | MEDLINE | ID: mdl-31209432

RESUMEN

OBJECTIVE: To explore the association between SPRY gene family and the risk of non-syndromic oral clefts among Chinese populations, in respect of single nucleotide polymorphisms (SNPs) association and parent-of-origin effects. METHODS: Based on case-parent design, this study used the data of SPRY gene family in a next generation sequencing study of 183 non-syndromic cleft lip with or without cleft palate (NSCL/P) case-parent trios (549 participants) recruited from 2016 to 2018, to analyze the effects of SNP association and parent-of-origin. The sequencing study adopted a two-stage design. In the first stage, whole exome sequencing was conducted among 24 NSCL/P trios with family history to explore potential signals. Then in the second stage, another 159 NSCL/P trios were used as validation samples to verify the signals found in the first stage. The data of general information, disease features and parental environmental exposures for participants were collected through questionnaires. Blood samples were collected from each participant for DNA extraction and sequencing. Transmission disequilibrium tests (TDT) were conducted to test for the association between SNPs and NSCL/P, while Z score tests were applied to analyze parent-of-origin effects. The analyses were performed using Plink (v1.07). TRIO package in R (v3.5.1). Besides, famSKAT analyses were conducted in the first stage to combine the effect of SNPs located on the same gene, using famSKAT package in R(V3.5.1). Bonferroni method was adopted to correct multiple tests in the second stage. RESULTS: Twenty-two SNPs in SPRY gene family were included for analyses after the quality control process in the first stage. Based on the variants annotation, functional prediction and statistical analysis, rs1298215244 (SPRY1) and rs504122 (SPRY2) were included in the second verification stage. TDTs in the verification stage revealed that rs1298215244: T>C, rs504122: G>C and rs504122: G>T were associated with the risk of NSCL/P after Bonferroni corrections, where rs504122: G>T was a rare variation. Although the test for parent-of-origin effect of rs1298215244: T>C reached nominal significance level, no SNP showed significant association with NSCL/P through parent-of-origin effect after Bonferroni corrections. CONCLUSION: This study found that SNPs (including both common and rare variants) among the SPRY gene family were associated with the risk of NSCL/P among Chinese populations. This study failed to detect parent-of-origin effects among the SPRY gene family.


Asunto(s)
Labio Leporino , Fisura del Paladar , Estudio de Asociación del Genoma Completo , Genotipo , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Péptidos y Proteínas de Señalización Intracelular , Proteínas de la Membrana , Polimorfismo de Nucleótido Simple , Factores de Riesgo
12.
Zhonghua Yi Xue Za Zhi ; 99(11): 841-843, 2019 Mar 19.
Artículo en Zh | MEDLINE | ID: mdl-30893728

RESUMEN

Objective: To compare the difference of preoperative planning parameters between 3D-printing non-coplanar template (3D-PNCT) and 3D-printing coplanar template (3D-PCT) in the treatment of pelvic wall recurrent gynecological malignant tumor with radioactive seeds implantation, and to guide the clinical application. Methods: From January 2016 to March 2018, 33 patients with pelvic wall recurrent gynecological malignant tumor were treated with radioactive seeds implantation assisted by 3D-printing template and in Peking University Third Hospital. All patients underwent 3D-PNCT and 3D-PCT preoperative planning. The D(90) of target remained similar for the same patient. The parameters were compared with Wilcoxon test or Kruskal-Wallis test. Results: D(90) was similar between the two groups (P>0.05). The number of inserting needles through intestine and bone in 3D-PNCT group was less than that in 3D-PCT group (0 (0-13), 0 (0-25), Z=-2.941, P<0.05;0 (0-3), 0 (0-25), Z=-2.232, P<0.05). Conclusion: For patients with gynecological malignancies with pelvic recurrence, both of the two peroperative plans could achieve prescription dose, but 3D-PNCT is more safer.


Asunto(s)
Impresión Tridimensional , Femenino , Neoplasias de los Genitales Femeninos , Humanos , Radioisótopos de Yodo , Recurrencia Local de Neoplasia , Neoplasias Pélvicas , Dosificación Radioterapéutica , Planificación de la Radioterapia Asistida por Computador
13.
Zhonghua Jie He He Hu Xi Za Zhi ; 42(8): 591-595, 2019 Aug 12.
Artículo en Zh | MEDLINE | ID: mdl-31378020

RESUMEN

Objective: To explore the change of hypothalamic-pituitary-thyroid axis hormones and it's role in depression in obstructive sleep apnea-hypopnea syndrome. Methods: Seventy-three male OSAHS patients [age (39±11) years] and 13 male controls [age (36±7.5) years] were enrolled from August 2013 to May 2017 in the 1(st) Hospital of China Medical University. Overnight polysomnography and depression were assessed. The serum TRH, TSH, FT4 and FT3 levels were measured on the next morning. The relationship between depression and hypothalamic-pituitary-thyroid axis was analyzed. Results: Compared with the control group, severe hypoxia group had higher serum FT3 level [(4.5±0.6) ng/L vs. (5.4±0.7)ng/L, P<0.05)] and depression score (30±7 vs. 40±10, P<0.05). Further analysis revealed that serum FT3 level (5.0±0.5 ng/L vs. 5.5±0.7ng/L, P<0.05) and FT4 level [(16.2±1.9) ng/L vs. (18.2±2.3) ng/L, P<0.05] were lower in the patients with depression than those without. Conclusion: The decrease of serum FT3 and FT4 levels in OSAHS patients with severe hypoxia was closely related to the occurrence of depression.


Asunto(s)
Depresión/psicología , Sistema Hipotálamo-Hipofisario/patología , Apnea Obstructiva del Sueño/psicología , Glándula Tiroides/patología , China , Humanos , Masculino , Polisomnografía , Apnea Obstructiva del Sueño/diagnóstico , Apnea Obstructiva del Sueño/fisiopatología , Tirotropina/sangre , Tiroxina/sangre , Triyodotironina/sangre
14.
J Biol Regul Homeost Agents ; 32(2): 307-311, 2018.
Artículo en Inglés | MEDLINE | ID: mdl-29685011

RESUMEN

Autoimmune hepatitis (AH) is usually manifested as chronic hepatitis in clinics; it may evolve to liver cirrhosis, hepatic failure, and even death if treatment is delayed. To investigate the clinical efficacy of glucocorticoids in combination with ursodesoxycholic acid in the treatment of glucocorticoids in combination with ursodesoxycholic acid, one hundred and twenty patients with AH who were admitted to the hospital from February 2014 and February 2016 were selected and randomly divided into an observation group and a control group using random number table. Patients in the control group were treated by glucocorticoids only, while patients in the observation group were treated by ursodesoxycholic acid and glucocorticoids. Patients in both groups were treated for six months. The clinical efficacy of the two groups was evaluated after treatment. The levels of alanine aminotransferase (ALT), aspartate aminotransferase (AST), direct bilirubin (DBIL) and total bilirubin (TBIL) of the two groups both decreased after treatment (P less than 0.05), the improvement of the level of liver function of the observation group was superior to that of the control group, and the difference was statistically significant (P less than 0.05); after treatment, the levels of serum immunoglobulin G (IgG) and immunoglobulin m (IgM) of both groups significantly reduced after treatment, and the difference within groups before and after treatment had no statistical significance (P less than 0.05). The reduction of the immunological indicators of the observation group was more remarkable after treatment, and the difference between the two groups had statistical significance (P>0.05). The complete remission rate of the observation group was significantly higher than that of the control group; the incidence of adverse reactions was lower than that of the control group, and the difference had statistical significance (P less than 0.05). Thus it can be concluded that glucocorticoids in combination with ursodesoxycholic acid has favorable efficacy in treating AH as it can promote the improvement of liver function and effectively reduce the dose of glucocorticoids and the incidence of adverse reactions. The therapy is of great clinical values.


Asunto(s)
Colagogos y Coleréticos/administración & dosificación , Glucocorticoides/administración & dosificación , Hepatitis Autoinmune/tratamiento farmacológico , Prednisona/administración & dosificación , Ácido Ursodesoxicólico/administración & dosificación , Adulto , Colagogos y Coleréticos/efectos adversos , Quimioterapia Combinada/métodos , Femenino , Glucocorticoides/efectos adversos , Humanos , Masculino , Persona de Mediana Edad , Prednisona/efectos adversos , Ácido Ursodesoxicólico/efectos adversos
15.
Zhonghua Yi Xue Za Zhi ; 98(37): 3014-3016, 2018 Oct 09.
Artículo en Zh | MEDLINE | ID: mdl-30392259

RESUMEN

Objective: To evaluate the relationship of dosimetry parameters and efficacy of (125)I seeds implantation for pelvic recurrent cervical cancer (PRCC) after external beam radiotherapy(EBRT) under CT guidance. Methods: A retrospective analysis was made on 30 PRCC patients after EBRT in Peking University Third Hospital with (125)I seeds implantation under CT guidance. Postoperative plans were made to evaluate the dosimetric parameters. Kaplan-Meier method was used to calculate local progression free survival (LPFS) rate and overall survival (OS) rate, and Log-rank test and Cox regression were used for univariate and multivariate analysis. Results: The 1-year and 2-year LPFS rate was 39.4% and 22.5%, respectively. The 1-year and 2-year OS rate was 57.3% and 27.4%, respectively. On postoperative plan, D(90) was (132±47) Gy, D(100) was (51±24) Gy, V(100) was 88%±10%, V(150)was 69%±15%, V(200) was 51%±18%.LPFS time would be longer while D(90) ≥105 Gy or D(100) ≥ 55 Gy or V(100) ≥ 91% (all P<0.05). D(100) was significantly related to LPFS (P<0.05). But these dosimetry parameters got no effect on OS. Conclusions: LPFS time of (125)I seeds implantation for PRCC after EBRT under CT guidance would be longer when D(90)≥105 Gy or D(100)≥ 55 Gy, or V(100)≥ 91%. D(100) is an independent factor related to LPFS.


Asunto(s)
Dosificación Radioterapéutica , Neoplasias del Cuello Uterino , Braquiterapia , Femenino , Humanos , Isótopos de Yodo , Recurrencia Local de Neoplasia , Estudios Retrospectivos , Tomografía Computarizada por Rayos X , Neoplasias del Cuello Uterino/radioterapia
16.
Zhonghua Jie He He Hu Xi Za Zhi ; 41(8): 606-610, 2018 Aug 12.
Artículo en Zh | MEDLINE | ID: mdl-30138969

RESUMEN

Objective: To investigate the effect of GHRH on the cognitive function of OSAHS patients by detecting the serum GHRH levels and assessing their cognitive function in patients with OSAHS. Methods: A total of 70 moderate-severe OSAHS patientsand 32 adults with snoring from October 2013 to May 2017 were enrolled for overnight polysomnography(PSG) and cognitive function assessment. Blood samples were taken at the next morning and serum GHRH levels were measured by ELISA. Results: There was no significant difference between OSAHS group (318.73±186.66)pg/ml and control group (291.48±147.36)pg/ml. Compared with control group, the serum GHRH levels were significantly increased in OSAHS patients without cognitive impairment (370.31±197.33)pg/ml, and evidently decreased in those with cognitive impairment (193.63±70.97)pg/ml (both P<0.05). The cognitive function of OSAHS patients was influenced by serum GHRH levels (OR=0.42, 95%CI: 0.24-0.73), body mass index (OR=2.23, 95%CI: 1.03-4.79), and daily sleepiness score (OR=1.80, 95%CI: 1.04-3.09). Conclusion: Serum GHRH levels in patients with moderate-severe OSAHS may play a protective role in patients' cognitive function.


Asunto(s)
Cognición , Índice de Masa Corporal , Hormona Liberadora de Hormona del Crecimiento , Humanos , Polisomnografía , Apnea Obstructiva del Sueño , Fases del Sueño , Ronquido
17.
J Biol Regul Homeost Agents ; 31(2): 459-464, 2017.
Artículo en Inglés | MEDLINE | ID: mdl-28685553

RESUMEN

Many cases of liver carcinoma miss the opportunity of surgical treatment because of hidden onset and delayed diagnosis. In recent years, interventional treatment has gradually become a non-surgical method for treating liver carcinoma. To discuss the effects of oxaliplatin in combination with epirubicin in the treatment and its influence on prognosis, this study randomly selected 218 advanced primary liver carcinoma patients from Binzhou People’s Hospital, Binzhou, China and divided them into a control group (n=109) and an observation group (n=109). Patients in both groups were given interventional treatment. Patients in the control group were perfused with oxaliplatin, while patients in the observation group were perfused with oxaliplatin and epirubicin. The effectsat 6-month and 12-month survival rates were compared between the two groups. The results demonstrated that the overall effective rate and clinical benefit rate of the observation group were much higher than those of the control group (30.3% vs 11.9%; 79.8%; vs 44.3%) (P less than 0.05). The serum Alpha Fetal Protein (AFP) and Carcino Embryonie Antigen (CEA) levels of the observation group were much lower than those of the control group; the Karnofsky performance score of the observation group was much lower than that of the control group; the two differences had statistical significance (P less than 0.05). The 6-month survival rate of the observation group was 91.67%, higher than that of the control group (86.11%) (P>0.05). The 12-month survival rate of the observation group was 83.33%, much higher than that of the control group (61.11%) (P less than 0.05). The difference of the incidence of adverse reactions between the two groups had no statistical significance (P>0.05). Thus, it can be concluded that oxaliplatin in combination with epirubicin can improve survival quality, extend survival time, and decrease the serum AFP and CEA levels in the treatment of primary liver carcinoma, with definite effects but without aggravating toxic and side effects. Therefore, the therapy has important clinical value.


Asunto(s)
Quimioembolización Terapéutica/métodos , Epirrubicina/administración & dosificación , Neoplasias Hepáticas/mortalidad , Neoplasias Hepáticas/terapia , Compuestos Organoplatinos/administración & dosificación , Piridinas/administración & dosificación , Cateterismo/métodos , Supervivencia sin Enfermedad , Femenino , Humanos , Masculino , Persona de Mediana Edad , Tasa de Supervivencia , Factores de Tiempo
18.
Beijing Da Xue Xue Bao Yi Xue Ban ; 49(5): 851-854, 2017 10 18.
Artículo en Zh | MEDLINE | ID: mdl-29045968

RESUMEN

OBJECTIVE: To compare the difference between non-operative and operative treatment of humeral shaft fractures. METHODS: From March 2005 to October 2012, 252 cases of humeral shaft fractures were treated and were adequately followed up. According to the treatment methods, the patients were divided into 2 groups: the non-operative group and the operative group. In the non-operative group, there were 76 cases treated with plaster/small splint fixation,meanwhile there were 176 cases treated with internal fixation either by plating or by nailing in the operative group. The follow-up parameters included: fracture healing rate, fracture union time, complications rate, Constant- Murley shoulder score and Mayo elbow score. RESULTS: The mean follow-up period was (31.24±20.06) months (ranging 6 to 103 months). There were no statistical differences in age, open fracture number, fracture site and Arbeitsgemeinschaft für Osteosynthesefragen (AO) classification between the non-operative group and the operative group. The fracture healing rate: the non-operative group: 96.1%(72/76), the operative group: 97.7%(172/176), P=0.46; the fracture union time: the non-operative group: (10.24±2.93) weeks, the operative group: (10.69±2.51) weeks, P=0.22; the complication rate: the non-operative group: 5.3%(4/76),the operative group: 15.3%(27/176), P=0.03. The complications included: nonunion: the non-operative group: 3.95%(3/76), the operative group: 2.3%(4/176), P=0.434; radial nerve palsies: the non-operative group: 0%(0/76), the operative group: 5.7%(10/176), P=0.035; bone split: the non-operative group: 0%(0/76), the operative group: 1.7%(3/176), P=0.556; elbow stiffness: the non-operative group:1.3%(1/76), the operative group: 0.6%(1/176), P=1.000; shoulder pain: the non-operative group:0%(0/76), the operative group: 5.1%(9/176), P=0.061. The Constant-Murley shoulder score: the non-operative group: 97.37±4.94, the operative group: 96.34±6.88, P=0.244. The Mayo elbow score: the non-operative group: 99.80±1.72, the operative group: 99.49±2.73,P=0.923. CONCLUSION: The results of non-operative treatment of humeral shaft fractures appeared with excellent results with lower complications rate compared with that of the operative treatment.


Asunto(s)
Fijación Interna de Fracturas , Fijación Intramedular de Fracturas , Fracturas del Húmero , Placas Óseas , Articulación del Codo , Curación de Fractura , Humanos , Fracturas del Húmero/cirugía , Húmero , Resultado del Tratamiento
19.
J Helminthol ; 90(1): 1-6, 2016 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-25226270

RESUMEN

The present study examined sequence variability in two mitochondrial DNA (mtDNA) regions, namely cytochrome c oxidase subunit 1 (cox1) and NADH dehydrogenase subunit 1 (nad1), and internal transcribed spacer (ITS) of nuclear ribosomal DNA (rDNA) among Oesophagostomum asperum isolates from goats in Hunan Province, China. A portion of the cox1 (pcox1), nad1 (pnad1) genes and the ITS (ITS1+5.8S rDNA+ITS2) rDNA were amplified by polymerase chain reaction (PCR) separately from adult O. asperum individuals and the representative amplicons were subjected to sequencing from both directions. The lengths of pcox1, pnad1 and ITS rDNA were 366 bp, 681 bp and 785 bp, respectively. The A+T contents of gene sequences were 71.5-72% for pcox1, 73.7-74.2% for pnad1 and 58-58.8% for ITS rDNA. Intra-specific sequence variations within O. asperum were 0-1.6% for pcox1, 0-1.9% for pnad1 and 0-1.7% for ITS rDNA, while inter-specific sequence differences among members of the genus Oesophagostomum were significantly higher, being 11.1-12.5%, 13.3-17.7% and 8.5-18.6% for pcox1, pnad1 and ITS rDNA, respectively. Phylogenetic analyses using combined sequences of pcox1 and pnad1, with three different computational algorithms (Bayesian inference, maximum likelihood and maximum parsimony), revealed distinct groups with high statistical support. These findings demonstrated the existence of intra-specific variation in mtDNA and rDNA sequences among O. asperum isolates from goats in Hunan Province, China, and have implications for studying molecular epidemiology and population genetics of O. asperum.


Asunto(s)
ADN de Helmintos/genética , ADN Mitocondrial/genética , Variación Genética , Enfermedades de las Cabras/parasitología , Esofagostomiasis/veterinaria , Oesophagostomum/genética , Animales , Secuencia de Bases , China , Femenino , Cabras , Masculino , Datos de Secuencia Molecular , Esofagostomiasis/parasitología , Oesophagostomum/clasificación , Oesophagostomum/aislamiento & purificación , Filogenia
20.
Eur J Neurol ; 22(1): 142-9, 2015 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-25142748

RESUMEN

BACKGROUND AND PURPOSE: Earlier studies suggested an association between idiopathic restless legs syndrome (RLS) and cardiovascular diseases. However, the risk of cardiovascular events in patients with secondary RLS due to end-stage renal disease (ESRD) is unclear. Our aim was to examine whether ESRD patients with RLS had an increased risk of cardio/cerebrovascular events and mortality. METHODS: In all, 1093 ESRD patients were recruited between 2009 and 2010. The diagnosis and severity of RLS were assessed in a face-to-face interview. The occurrence of cardio/cerebrovascular events and death were confirmed by medical record review. The association between RLS and the outcomes of interest was examined using an adjusted multivariate Cox regression model. RESULTS: After a mean follow-up period of 3.7 ± 0.8 years, ESRD patients with RLS had a significantly higher risk of developing cardiovascular events and strokes [adjusted hazard ratio (aHR) 2.82, 95% confidence interval (CI) 2.02-4.11, and aHR 2.41, 95% CI 1.55-3.75, respectively] compared with patients without RLS. Increasing RLS severity was associated with an increasing likelihood of cardiovascular events [mild RLS severity, aHR 1.71 (95% CI 1.02-2.87); moderate, 2.79 (1.64-4.66); severe, 2.85 (1.99-4.46)] and strokes [mild, 1.89 (0.87-4.16); moderate, 2.42 (1.50-3.90); severe, 2.64 (1.49-4.91)] in a dose-dependent manner. RLS also increased the risk of total mortality in patients with ESRD [aHR 1.53 (95% CI 1.07-2.18), P = 0.02]; this association attenuated slightly after stratification by individual RLS severity category [mild RLS severity, aHR 1.44 (95% CI 0.78-2.67); moderate, 1.49 (0.98-2.55); severe, 2.03 (0.93-4.45)]. CONCLUSIONS: ESRD patients with RLS demonstrated an increased likelihood of cardio/cerebrovascular events and mortality.


Asunto(s)
Enfermedades Cardiovasculares/epidemiología , Fallo Renal Crónico/epidemiología , Síndrome de las Piernas Inquietas/epidemiología , Anciano , Enfermedades Cardiovasculares/mortalidad , Trastornos Cerebrovasculares/epidemiología , Trastornos Cerebrovasculares/mortalidad , Comorbilidad , Femenino , Humanos , Fallo Renal Crónico/complicaciones , Masculino , Persona de Mediana Edad , Síndrome de las Piernas Inquietas/etiología , Índice de Severidad de la Enfermedad
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