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1.
Zhonghua Er Ke Za Zhi ; 61(11): 995-1000, 2023 Nov 02.
Artículo en Chino | MEDLINE | ID: mdl-37899339

RESUMEN

Objective: To analyze the clinical and genetic features of patients with mitochondrial pyruvate carrier deficiency (MPYCD). Methods: This was a case series research. The clinical data, genetic characteristics, and glutamine treatment efficacy of 3 patients diagnosed with MPYCD at the Department of Neurology, Beijing Children's Hospital, Capital Medical University and Department of Pediatrics, Guizhou Provincial People's Hospital, from August 2019 to June 2023 were retrospectively collected. A literature search with "MPC1 gene" "MPC2 gene and" "mitochondrial pyruvate carrier deficiency" as keywords was conducted at the Wanfang Data Knowledge Service Platform, China National Knowledge Infrastructure (CNKI) and PubMed (up to June 2023). Clinical and genetic characteristics of patients with MPYCD were summarized. Results: Case 1 was a 3 years and 11 months old boy, while case 2 was a 4 years and 10 months old boy and case 3 was an 8 years and 9 months old girl. Case 2 and case 3 were siblings from one consanguineous family. All 3 patients presented with general developmental delay, growth failure and elevated serum lactate. Cranial magnetic resonance imaging (MRI) showed subtle bilateral symmetrical T2 signal hyperintensity in basal ganglia and thalamus in case 1, but normal in case 2 and 3. Trio-WES revealed case 1 harboring compound heterozygous missense variants c.208G>A (p.Ala70Thr) and c.290G>A (p.Arg97Gln) in MPC1 gene, while case 2 and 3 revealed a homozygous variant c.290G>A (p.Arg97Gln) in the same gene. All 3 cases were diagnosecl as MPYCD. Clinical symptoms including motor ability, cognition and activity endurance were improved in these 3 patients after taking glutamine for 2 years. A total of 5 articles published in English were reviewed, and no Chinese literature was found. Including these 3 cases, 15 cases were enrolled for analysis. Eleven patients carried MPC1 gene variants and 4 cases carried MPC2 gene variants. Except for 3 cases died during prenatal period, 9 of 12 enrolled born cases were onset before 6 months old. The most common clinical symptoms were mental and motor general developmental delay, microcephaly, growth failure and hypotonia. All patients had elevated blood lactate and pyruvate, but the ratio of lactate/pyruvate was normal. Seven patients performed cranial MRI, 3 exhibited non-specific changes, 2 showed bilateral symmetrical T2 signal hyperintensity in basal ganglia and thalamus, and 3 were normal. A total of 5 MPC1 gene missense variants and 2 MPC2 gene variants were identified in 15 cases. Conclusions: Onset age of patients with MPYCD is usually within 6 months. The main clinical characteristics are developmental delay, microcephaly and growth failure, accompanied by increased serum lactate and pyruvate. Glutamine supplement could lead to clinical improvements.


Asunto(s)
Microcefalia , Transportadores de Ácidos Monocarboxílicos , Niño , Femenino , Humanos , Masculino , Glutamina , Lactatos , Piruvatos , Estudios Retrospectivos , Preescolar
4.
Eur Rev Med Pharmacol Sci ; 26(22): 8444-8450, 2022 11.
Artículo en Inglés | MEDLINE | ID: mdl-36459027

RESUMEN

OBJECTIVE: This study aims at evaluating the prognostic value of LncRNA-HOTAIR for patients with hepatocellular carcinoma (HCC). MATERIALS AND METHODS: A comprehensive databases and literature search was performed on PubMed, EMBASE, Web of Science, the Cochrane Library, CNKI, CBM, Wanfang, and VIP database up to the end of February 2022, for published studies on the connection of HCC and HOTAIR. STATA 12.0 software was used for the meta-analysis. RESULTS: Eight studies with 412 patients were selected to be entered in the meta-analysis. We found that high expression of HOTAIR was associated with III+IV tumor stage (HR=2.31, 95% CI:1.32, 4.01), and it was not associated with age (HR=0.86, 95% CI:0.55, 1.34), gender (HR=0.91, 95% CI:0.55, 1.46), tumor number (HR=1.58, 95% CI:0.72, 3.48), tumor size (HR=1.54, 95% CI:0.96, 2.49), lymph node metastasis (HR=0.66, 95% CI:0.38, 1.15), AFP (HR=0.81, 95% CI:0.46, 1.42), cirrhosis (HR=1.34, 95% CI:0.75, 2.41), or portal invasion (HR=1.76, 95% CI:0.83, 3.72). A high expression level of HOTAIR was associated with a poorer OS (HR=3.12, 95% CI:1.31-7.43, p=0.010) and RFS (HR=1.67, 95% CI:1.23-2.26, p=0.010) for patients with HCC. CONCLUSIONS: A high expression level of HOTAIR was associated with III+IV tumor stage. Our meta-analysis clearly supports the prognostic value of HOTAIR to predict unfavorable prognostic outcomes for patients with HCC.


Asunto(s)
Carcinoma Hepatocelular , Neoplasias Hepáticas , ARN Largo no Codificante , Humanos , Pronóstico , Carcinoma Hepatocelular/diagnóstico , Carcinoma Hepatocelular/genética , ARN Largo no Codificante/genética , Neoplasias Hepáticas/diagnóstico , Neoplasias Hepáticas/genética , Cirrosis Hepática
5.
Zhonghua Xue Ye Xue Za Zhi ; 43(9): 745-752, 2022 Sep 14.
Artículo en Chino | MEDLINE | ID: mdl-36709168

RESUMEN

Objective: To investigate the clinical significance and pathogenesis of heterogeneous nuclear ribonucleoprotein U (hnRNP U) in acute myeloid leukemia (AML) . Methods: The expression of hnRNP U, an RNA binding protein, in patients with AML and healthy controls was compared based on the Gene Expression Profiling Interactive Analysis database and the data of the center. The Beat AML Dataset (n=158) was downloaded from the cBioPortal database. The hnRNP U expression level was divided into the high-expression group (n=89) and low-expression group (n=69) , and patients' clinical characteristics were compared. The effect of hnRNP U on the biological behavior of human AML cell lines was studied by Cell Counting Kit-8 assay to detect cell proliferation. Annexin Ⅴ-APC/7-AAD antibodies were used to detect cell apoptosis. DNA content (PI staining) was quantitatively analyzed to detect cell cycle changes, and colony formation experiments were performed to detect cell cloning formation ability after hnRNP U knockdown in Kasumi-1 and MOLM-13 cells. To study the effect of hnRNP U knockdown on the DNA damage response (DDR) pathway proteins of cleaved-PARP, immunoblot analysis using p-H2A.X was conducted. Results: ①Pan-cancer analysis showed that hnRNP U was highly expressed in patients with AML, and the expression level of hnRNP U mRNA in peripheral blood mononuclear cells was significantly higher in patients with AML than in healthy controls (0.0315±0.0042 vs 0.0195±0.0006, respectively, P<0.01) . ②The age of onset was 56 (2-87) years in the high-expression group and 65 (8-85) years in the low-expression group (t=-2.681, P=0.007) . Moreover, the high-expression group had a higher proportion of combined FLT3 mutations than the low-expression group (χ(2)=4.069, P=0.044) . ③Compared with the negative control, hnRNP U knockdown inhibited the proliferation (P<0.001 and P<0.001) , promoted the apoptosis (P<0.01 and P<0.001) , decreased the colony formation ability (P<0.001 and P<0.001) , and arrested the cell cycles in the G(2)/M phase (P<0.05 and P<0.01) of Kasumi-1 and MOLM-13 cells, respectively. ④hnRNP U knockdown could increase the protein expression of cleaved-PARP and p-H2A.X on the DDR pathway. Conclusion: hnRNP U is highly expressed in AML, and hnRNP U knockdown can inhibit the occurrence and development of AML possibly through the activation of the DDR pathway.


Asunto(s)
Ribonucleoproteína Heterogénea-Nuclear Grupo U , Leucemia Mieloide Aguda , Anciano , Anciano de 80 o más Años , Humanos , Persona de Mediana Edad , Apoptosis , Línea Celular Tumoral , Proliferación Celular , Relevancia Clínica , Leucemia Mieloide Aguda/tratamiento farmacológico , Leucocitos Mononucleares/patología , Inhibidores de Poli(ADP-Ribosa) Polimerasas/farmacología , Inhibidores de Poli(ADP-Ribosa) Polimerasas/uso terapéutico , Preescolar , Niño , Adolescente , Adulto Joven , Adulto
6.
Zhonghua Yi Xue Za Zhi ; 101(20): 1523-1528, 2021 Jun 01.
Artículo en Chino | MEDLINE | ID: mdl-34044521

RESUMEN

Objective: To explore the effect of protein disulfide isomerase (PDI) in diabetic ischemic heart disease. Methods: We established an in vitro model of high glucose and hypoxia/reoxygenation in H9c2 rat myocardial cells. Cultured cells were divided into four groups: Control, high glucose (HG), hypoxia/reoxygenation (H/R) and HG+H/R. Changes in PDI expression mediated by PDI adenovirus(Ad-PDI) infection and siRNA(PDI-siRNA) transfection in myocardial cells were observed by inverted fluorescence microscopy. We also measured lactate dehydrogenase(LDH) activity and malondialdehyde(MDA) and high molecular weight(HMW)-APN concentrations. PDI, APN, cleaved caspase-3, and glucose regulated protein 78 (Grp78) protein expression were detected. Results: PDI expression was significantly decreased in the HG, H/R and HG+H/R groups compared to the Control group; however, LDH activity[(179.7±10.4) U/L、(218.4±18.4) U/L、(328.2±5.3) U/L vs (91.0±11.0) U/L], MDA concentration[(7.0±0.4) µmol/L、(10.0±1.0) µmol/L、(11.7±1.0) µmol/L vs (4.2±1.8) µmol/L], cleaved caspase-3, and Grp78 expression were increased. Interestingly, APN and HMW-APN expression were decreased [(2.01±0.21) µg/L、(1.64±0.27) µg/L、(1.20±0.14) µg/L vs (2.62±0.12) µg/L, all P<0.05]. Over expression of PDI attenuated high glucose and hypoxia/reoxygenation induced apoptosis and oxidative stress in H9c2 cardiomyocytes(all P<0.05), and simultaneously increased APN and HMW-APN expression [(2.86±0.03) µg/L vs (3.03±0.10) µg/L、(2.06±0.05) µg/L vs (2.31±0.06) µg/L、(1.83±0.07) µg/L vs (1.96±0.11) µg/L、(1.20±0.06) µg/L vs (1.39±0.09) µg/L]. PDI-siRNA transfection increased LDH activity, MDA concentration, and cleaved caspase-3 and Grp78 expression, and decreased APN and HMW-APN expression [(0.75±0.09) µg/L vs (0.59±0.09) µg/L、(0.62±0.04) µg/L vs (0.53±0.05) µg/L、(0.55±0.14) µg/L vs (0.51±0.12) µg/L、(0.48±0.12) µg/L vs (0.35±0.08) µg/L] in response to different treatments in cultured H9c2 cardiomyocytes (all P<0.05). Conclusion: PDI may regulate the expression of APN and HMW-APN, and play an important role in the function of diabetic ischemia-reperfusion cardiomyocytes.


Asunto(s)
Hiperglucemia , Miocitos Cardíacos , Animales , Apoptosis , Hipoxia de la Célula , Hipoxia , Miocitos Cardíacos/metabolismo , Proteína Disulfuro Isomerasas/metabolismo , Ratas
7.
Zhonghua Fu Chan Ke Za Zhi ; 55(11): 778-783, 2020 Nov 25.
Artículo en Chino | MEDLINE | ID: mdl-33228349

RESUMEN

Objective: To compare the clinical outcomes of one and two blastocysts in the freeze-thaw transplantation cycle. Methods: Totally 3 675 cycles of frozen thawed blastocyst transplantation in Reproductive Medical Center of the Second Nanning People's Hospital from January 2012 to December 2016 were analyzed retrospectively. According to the quantity and quality of transferred blastocysts, all the patient were divided into two groups: (1) one embryo group, including the single excellent group (one high quality blastocyst) and the single non excellent group (one non high quality blastocyst); (2) two embryo groups, including the double excellent group (two high quality blastocysts), the one excellent and one non excellent group (one high quality blastocyst+one non high quality blastocyst), and the two non excellent group (two non high quality blastocysts were transplanted). Then the patients were divided into subgroups according to their ages: less than 35 years old, 35-40 years old and over 40 years old. On this basis, the implantation rate, clinical pregnancy rate, multiple birth rate and live birth rate were compared. Results: (1) The implantation rate, clinical pregnancy rate, multiple birth rate, preterm birth rate and live birth rate were all significantly increased, while the abortion rate was significantly reduced in the double blastocyst group (all P<0.05). (2) In the group of<35 years old, the rates of multiple birth and preterm birth in the double blastocyst group were significantly higher than those in the single optimal group (P<0.01). (3) In the 35-40 years old group, the clinical pregnancy rate, multiple birth rate and live birth rate of the double excellent group were significantly higher than those of the single excellent group (P<0.01); while the clinical pregnancy rate and live birth rate of the one excellent and one non excellent group and the double non excellent group were not significantly different from those of the single excellent group (P>0.05), but the multiple birth rate and preterm birth rate were significantly increased (P<0.01). The clinical pregnancy rate, live birth rate and multiple birth rate of double non optimal group were significantly higher than those of single non optimal group (P<0.01). (4) In the group>40 years old, there were no significant differences in clinical pregnancy rate and live birth rate between the two groups (P>0.05). There were no significant differences in implantation rate, clinical pregnancy rate and live birth rate between double non optimal group and single non optimal group (P>0.05). Conclusion: No matter the age of the patients, if the couple have high quality blastocysts, we should give priority to single high quality blastocyst transplantation; even if they have no high quality blastocysts, we should also consider single blastocyst transplantation, in order to reduce the risk of multiple pregnancy and improve the cumulative live birth rate, so as to improve the pregnancy outcome.


Asunto(s)
Blastocisto/fisiología , Criopreservación/métodos , Transferencia de Embrión/métodos , Desarrollo Embrionario/fisiología , Nacimiento Vivo/epidemiología , Resultado del Embarazo/epidemiología , Adulto , Implantación del Embrión , Femenino , Humanos , Recién Nacido , Embarazo , Índice de Embarazo , Nacimiento Prematuro , Estudios Retrospectivos , Resultado del Tratamiento
8.
Zhongguo Xue Xi Chong Bing Fang Zhi Za Zhi ; 31(5): 529-531, 2019 Oct 18.
Artículo en Chino | MEDLINE | ID: mdl-31713386

RESUMEN

OBJECTIVE: To analyze the clinical characteristics of 24 patients with cysticercosis of the fourth ventricle, and to evaluate the therapeutic efficacy of microsurgery. METHODS: The clinical data of 24 patients with cysticercosis of the fourth ventricle referred the Department of Neurosurgery of the Affiliated Hospital of Qinghai University from January 2000 to December 2018 were collected, and the clinical features, imaging characteristics, surgical methods, therapeutic efficacy and postoperative complications were analyzed. RESULTS: The 24 patients included 15 men and 9 women, and had a mean age of 43.5 years (range, 16 to 68 years). Preoperative imaging examinations showed obvious dilatation of bilateral lateral ventricles, the third ventricle and middle cerebral aqueduct, and spherical or cystic dilatation of the fourth ventricle. There were 18 cases positive for antibodies against cysticercus, and 3 of the 21 cases were egg positives. All 24 cases received microsurgery, including 8 cases via the median aperture approach, 7 cases via the median aperture-cerebellar vermis approach, and 9 cases via the transcerebellomedullary fissure approach. There were 17 cases with complete delivery of vesicles, 5 cases with vesicle rupture and 2 cases with extraction of cystic fluid followed by separation and removal of cystic wall. All cases had obvious retraction of the ventricular system and disappearance of intracranial hypertension following surgery. There were 19 cases (79.17%) with well recovery, and 5 cases (20.83%) with aggravation or development of cerebellar ataxia, which recovered following treatment for 1 to 2 weeks. CONCLUSIONS: The transcerebellomedullary fissure approach is a safe and lowly invasive approach for the treatment of cysticercosis of the fourth ventricle.


Asunto(s)
Cisticercosis , Cuarto Ventrículo , Microcirugia , Neurocisticercosis , Procedimientos Neuroquirúrgicos , Adolescente , Adulto , Anciano , Animales , Femenino , Cuarto Ventrículo/parasitología , Cuarto Ventrículo/cirugía , Humanos , Masculino , Microcirugia/normas , Persona de Mediana Edad , Neurocisticercosis/patología , Neurocisticercosis/cirugía , Procedimientos Neuroquirúrgicos/normas , Resultado del Tratamiento , Adulto Joven
9.
Zhonghua Yu Fang Yi Xue Za Zhi ; 53(11): 1104-1109, 2019 Nov 06.
Artículo en Chino | MEDLINE | ID: mdl-31683395

RESUMEN

Objective: To analyze the related factors of esophageal squamous cell carcinoma and precancerous lesions among residents aged 40-69 years old in rural areas of Shandong Province. Methods: In October 2018, 300 villages in 13 counties of the Shandong upper gastrointestinal cancerearly diagnosis and treatment projectin 2017 were selected as research areas, and 30 400 residents aged 40-69 were recruited in this study. The demographic characteristics, health status and lifestyle information were collected through the questionnaire survey, and endoscope iodine staining and indicative biopsy methods were used for cancer screening among eligible people.The multivariate logistic regression model was used to analyze the risk factors for esophageal cancer and precancerous lesions. Results: The subjects in this study were (56.42±7.24) years old, including 13 193 males (43.40%).There were 936 cases of esophageal cancer and precancerous lesions (3.08%), including 521 males and 415 females.Compared with women, 40-49 years old, high level education, drinking tap water, regular intake of meat, eggs and milk, and family average annual income more than 30 000 RMB, men (OR=1.90, 95%CI: 1.65-2.19), 60-69 years old (OR=5.28, 95%CI: 4.11-7.30), primary school education or below (OR=1.50, 95%CI: 1.20-1.89), drinking groundwater (OR=1.71, 95%CI: 1.38-2.13), never eating meat, eggs and milk (OR=1.48, 95%CI: 1.22-1.80), and family average annual income less than 30 000 RMB (OR=1.41, 95%CI: 1.16-1.70) would increase the risk of esophageal cancer and precancerous lesions. Conclusion: The gender, age, educational level, annual household income, drinking water source, the frequency of eating meat, egg and milk were related to the occurrence of esophageal cancer and precancerous lesions among 40-69 years old residents in rural areas of Shandong Province.


Asunto(s)
Detección Precoz del Cáncer , Neoplasias Esofágicas/patología , Carcinoma de Células Escamosas de Esófago/patología , Lesiones Precancerosas/patología , Población Rural/estadística & datos numéricos , Adulto , Anciano , Biopsia , China/epidemiología , Endoscopía , Neoplasias Esofágicas/epidemiología , Carcinoma de Células Escamosas de Esófago/epidemiología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Lesiones Precancerosas/epidemiología , Factores de Riesgo
10.
Zhonghua Yan Ke Za Zhi ; 55(4): 273-279, 2019 Apr 11.
Artículo en Chino | MEDLINE | ID: mdl-30982289

RESUMEN

Objective: To quantify optical coherence tomographic angiography (OCTA) images and to explore potential clinical values of each parameter in diabetic patients. Methods: A case-control and cross-sectional study of diabetic (129 eyes) and healthy (32 eyes) subjects was conducted. 3-mm OCTA scan, fundus photography and best corrected visual acuity measurement were performed. Image-pro plus was used to calculate microvascular and foveal avascular indices in nonsegmented and segmented OCTA images. Intraclass correlation coefficient and relative standard deviation were used to examine the reliability, reproducibility and accuracy. Correlation of each parameter was calculated, and so was the area under the receiver operating characteristic curve. Results: Vessel density (VD) of diabetic patients measured in the nonsegmented retinal layer (RL) and superficial retinal layer (SRL) was 49.146%±6.097%, 44.038%±5.641%, respectively, significantly lower than healthy subjects 52.212%±6.250%, 46.698%±5.417% (t=2.534, 2.405; P=0.012, 0.017), and vessel length (VL) was (19.905±2.285)mm, (17.596±2.149)mm, (14.479±2.091)mm in the three layers, which was significantly shorter than that in the healthy control group (21.037±2.185)mm, (18.739±1.994)mm, (15.343±2.266)mm (t=2.529, 2.731, 2.059; P=0.012, 0.007, 0.041). Compared with non-diabetes, foveal avascular zone (FAZ) in diabetes was (0.441±0.167)mm(2), larger compared to health eyes 0.352±0.109mm(2) (t=-2.831, P=0.005). FAZ demonstrated a negative correlation with VD and VL in RL or SRL(r=-0.227, -0.338; P<0.05) (r=-0.241, -0.332; P<0.05), while best corrected visual acuity showed a negative correlation with VL in each layer (r=-0.225, -0.201, -0.250; P=0.01, 0.022, 0.004), and VD in DRL (r=-0.197, P=0.026). All parameters showed high reproducibility between graders(intraclass correlation coefficient>0.965), while relative standard deviation was greater than 3.049%. AR had the highest area under the receiver operating characteristic curve (0.737), compared with AI (0.724). Conclusions: Our study demonstrates good reliability, reproducibility and accuracy of quantification of OCTA images and reveals changes of VD, VL and FAZ in diabetes, which may occur earlier than vision impairment. AR and AL may have great values in prompting early diabetic retinopathy in diabetic patients. (Chin J Ophthalmol, 2019, 55:273-279).


Asunto(s)
Diabetes Mellitus Tipo 2 , Angiografía con Fluoresceína , Fondo de Ojo , Vasos Retinianos/diagnóstico por imagen , Tomografía de Coherencia Óptica , Área Bajo la Curva , Estudios de Casos y Controles , Estudios Transversales , Humanos , Reproducibilidad de los Resultados , Agudeza Visual
11.
Sci Adv ; 5(3): eaav2189, 2019 03.
Artículo en Inglés | MEDLINE | ID: mdl-30854430

RESUMEN

The Late Paleogene surface height and paleoenvironment for the core area of the Qinghai-Tibetan Plateau (QTP) remain critically unresolved. Here, we report the discovery of the youngest well-preserved fossil palm leaves from Tibet. They were recovered from the Late Paleogene (Chattian), ca. 25.5 ± 0.5 million years, paleolake sediments within the Lunpola Basin (32.033°N, 89.767°E), central QTP at a present elevation of 4655 m. The anatomy of palms renders them intrinsically susceptible to freezing, imposing upper bounds on their latitudinal and altitudinal distribution. Combined with model-determined paleoterrestrial lapse rates, this shows that a high plateau cannot have existed in the core of Tibet in the Paleogene. Instead, a deep paleovalley, whose floor was <2.3 km above mean sea level bounded by (>4 km) high mountain systems, formed a topographically highly varied landscape. This finding challenges prevailing views on tectonic processes, monsoon dynamics, and the evolution of Asian biodiversity.


Asunto(s)
Fósiles , Geografía , Tibet
12.
Zhonghua Nei Ke Za Zhi ; 57(7): 476-482, 2018 Jul 01.
Artículo en Chino | MEDLINE | ID: mdl-29996264

RESUMEN

Objective: To explore the relationship between ulcerative colitis (UC) susceptibility and tumor necrosis factor superfamily member (TNFSF) 15 gene polymorphisms and haplotypes in Han nationality in Zhejiang province of China. Methods: A total of 408 UC patients and 574 healthy controls were recruited in this study. Three single nucleotide polymorphisms of TNFSF15 (rs3810936, rs4263839, rs4979462) were examined by improved multiple ligase detection reaction (iMLDR) technique. Analyses of linkage disequilibrium (LD) and haplotype were performed by Haploview 4.2 software in all study subjects. Results: The variant allele A and genotype (GA+AA) of rs4263839 were less frequent in UC patients than in controls (45.34% vs. 50.17%, P=0.035;68.38% vs. 76.66%, P=0.004). According to the severity and location of disease, UC patients were divided into different subgroups. After multiple comparison correction(α=0.012 5), the frequencies of variant allele A and genotype (GA+AA) of rs4263839 were lower in patients with severe UC than in the controls (37.69% vs. 50.17%, P=0.007; 60.00% vs. 76.66%, P=0.004). Similar findings were also drawn for patients with extensive colitis in contrast with the controls (42.22% vs. 50.17%, P=0.009; 63.33% vs. 76.66%, P<0.001). Furthermore, the haplotype analysis indicated that three SNPs above were in a strong LD. The frequency of haplotype TAC was lower in UC patients than in the controls(40.83% vs. 46.04%, P=0.023). Also it was less prevalent in patients with severe UC and patients with extensive colitis when compared with controls respectively (33.38% vs. 46.04%, P=0.005;37.22% vs. 46.04%, P=0.003). Conclusions: TNFSF15 (rs4263839) variation might not only reduce the risk of UC, but also affect the severity and lesion location of UC. The haplotype TAC formed by rs3810936, rs4263839 and rs4979462 might be related to a lower risk of UC, especially in patients with severe colitis or patients with extensive colitis.


Asunto(s)
Pueblo Asiatico/genética , Colitis Ulcerosa/genética , Polimorfismo de Nucleótido Simple , Miembro 15 de la Superfamilia de Ligandos de Factores de Necrosis Tumoral/genética , Alelos , Estudios de Casos y Controles , China , Colitis Ulcerosa/etnología , Genotipo , Haplotipos , Humanos
13.
Zhonghua Nei Ke Za Zhi ; 57(1): 37-43, 2018 Jan 01.
Artículo en Chino | MEDLINE | ID: mdl-29325309

RESUMEN

Objective: To explore the relationship of Crohn's disease (CD) susceptibility to aryl hydrocarbon receptor (AhR) polymorphisms and haplotypes in Han population in Wenzhou city, China. Methods: A total of 310 CD patients and 573 age- and sex-matched healthy controls were enrolled in our study. Three single nucleotide polymorphisms (SNPs) of AhR(rs10249788,rs2158041,rs2066853) were determined by the improved multiple ligase detection reaction technique. Unconditional logistic regression analyses was applied to analyze the allelic and genotypic differences of each SNP between CD patients and controls, as well as their influence on the clinicopathologic characteristics in CD patients. Analyses of linkage disequilibrium and haplotype were performed by Haploview 4.2 software in all study subjects. Results: Compared with the controls, the variant allele (T) and genotype (CT+TT) of (rs2158041) were evidently decreased among CD patients (19.52% vs. 25.04%, P=0.009; 34.19% vs. 44.68%, P=0.003). According to "the Montreal Classification Standards" , CD patients were divided into different subgroups. The variant allele (T) and genotype (CT+TT) of (rs2158041) were significantly lower in patients with terminal ileum CD than in controls (16.79% vs. 25.04%, P=0.005; 28.24% vs. 44.68%, P=0.001). Similar conclusions were also drawn in patients with constricting disease when compared with the controls (15.20% vs. 25.04%, P=0.003; 28.43% vs. 44.68%, P=0.003). The three SNPs above were shown to be in a linkage disequilibrium. Compared with the controls respectively, the frequency of haplotype (CCG) was increased in CD patients (44.73% vs. 39.60%, P=0.039), whereas that of haplotype (CTG) was decreased (18.02% vs. 22.78%, P=0.047). Conclusions: AhR (rs2158041) variation might influence the risk as well as the location and behavior of CD. The haplotype (CCG) possibly increase the risk of CD development, whereas haplotype (CTG) might decrease it.


Asunto(s)
Pueblo Asiatico/genética , Enfermedad de Crohn/genética , Predisposición Genética a la Enfermedad/genética , Polimorfismo de Nucleótido Simple/genética , Receptores de Hidrocarburo de Aril/genética , Adolescente , Adulto , Alelos , Estudios de Casos y Controles , Niño , China , Enfermedad de Crohn/diagnóstico , Femenino , Frecuencia de los Genes , Genotipo , Haplotipos , Humanos , Masculino , Factores de Riesgo , Adulto Joven
14.
Braz J Med Biol Res ; 50(3): e6079, 2017 Feb 20.
Artículo en Inglés | MEDLINE | ID: mdl-28225893

RESUMEN

Several long non-coding RNA (lncRNA) might be correlated with the prognosis of colorectal cancer (CRC) and serve as a diagnostic and prognostic biomarker. However, the exact expression pattern of small nucleolar RNA host gene 12 (SNHG12) in colorectal cancer and its clinical significance remains unclear. The level of SNHG12 was detected by qRT-PCR in CRC tissues and CRC cells. MTT assay and colony formation assay were performed to examine the cell proliferation of CRC cells transfected with pcDNA-SNHG12 or si-SNHG12. Flow cytometry technology was used to detect cell cycle and cell apoptosis of CRC cells transfected with pcDNA-SNHG12 or si-SNHG12. The protein level of cell cycle progression-related molecules, including cyclin-dependent kinases (CDK4, CDK6), cyclin D1 (CCND1) and cell apoptosis-related molecule caspase 3 was detected by western blot. The effect of SNHG12 knockdown was examined in vivo. Increased levels of SNHG12 were observed in CRC tissues and in CRC cells. SNHG12 promoted the cell proliferation of CRC cells. In addition, SNHG12 overexpression boosted the cell cycle progression of SW480 cells transfected with pcDNA-SNHG12 and SNHG12 knockdown inhibited the cell cycle progression of HT29 cells transfected with si-SNHG12. SNHG12 also inhibited the cell apoptosis of CRC cells. We also found that SNHG12 increased the expression of cell cycle-related proteins and suppressed the expression of caspase 3. Our results suggest that SNHG12 promoted cell growth and inhibited cell apoptosis in CRC cells, indicating that SNHG12 might be a useful biomarker for colorectal cancer.


Asunto(s)
Apoptosis , Proliferación Celular/fisiología , Neoplasias Colorrectales/metabolismo , ARN Largo no Codificante/fisiología , Western Blotting , Citometría de Flujo , Regulación Neoplásica de la Expresión Génica , Humanos , Reacción en Cadena en Tiempo Real de la Polimerasa , Regulación hacia Arriba
15.
J Helminthol ; 91(1): 7-13, 2017 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-26795036

RESUMEN

A new species, Belondira bagongshanensis n. sp., extracted from soil under grass in Bagongshan Forest Park, Anhui Province, China, is described and illustrated. The new species is mainly characterized by a body length 1.6-2.1 mm; cephalic framework moderately sclerotized; odontostyle robust with a distinct lumen; anterior part of pharynx with a distinct fusiform swelling, bearing distinct sclerotized valve plates and basal expansion occupying about three-fifths of the total neck length; female genital system mono-opisthodelphic and anterior branch 0.8-1.6 times the corresponding body diameter; tail short and hemispheroid; male spicules 36-49 µm long and two widely spaced ventromedian supplements. The new species is close to B. wajahati, B. golden and B. eugeniae in possessing a short tail, a robust odontostyle with a distinct aperture and a moderately sclerotized cephalic framework. New sequences of 18S rDNA and the D2-D3 region of 28S rDNA of the new species were also identified.


Asunto(s)
Estructuras Animales/anatomía & histología , Nematodos/clasificación , Nematodos/aislamiento & purificación , Suelo/parasitología , Animales , Biometría , China , ADN de Helmintos/química , ADN de Helmintos/genética , ADN Ribosómico/química , ADN Ribosómico/genética , Microscopía , Nematodos/anatomía & histología , Nematodos/genética , ARN Ribosómico 18S/genética , ARN Ribosómico 28S/genética , Análisis de Secuencia de ADN
16.
J Helminthol ; 91(1): 80-86, 2017 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-26940280

RESUMEN

One new species from Qinghai Province, China, Labronemella major n. sp., is described. The new species is characterized by a body length of 3.03-3.34 mm; lip region wide, offset by a distinct depression, disc-like with six separated inner liplets; amphid fovea funnel-shaped, distinctly bulged on body surface in scanning electron micrographs; odontostyle long (35-39 µm) with distinct lumen, aperture about 39-47% of its length; odontophore rod-like and long; guiding ring double; pharyngeal basal expansion about half of the total neck length; uterus relatively long and tripartite; vulva transverse and sclerotized; spicules 81-90 µm long; ventromedial supplements 19-23; tail short, rounded to conoid. It can be differentiated from all other species of the genus by its relatively longer body, odontostyle and spicules, and wider lip region. Due to the lip region being offset by a deep constriction, and the long (three or more times the body diameter at mid-body) tripartite uterus, the new species is close to Labronemella czernowitzensis (Micoletzky, 1922) Andrássy, 2002 and Labronemella labiata Andrássy, 1985. An improved key to the genus including the new species is provided.


Asunto(s)
Nematodos/anatomía & histología , Nematodos/clasificación , Suelo/parasitología , Estructuras Animales/anatomía & histología , Animales , Biometría , China , Microscopía , Nematodos/aislamiento & purificación
17.
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi ; 31(16): 1276-1280, 2017 Aug 20.
Artículo en Chino | MEDLINE | ID: mdl-29798378

RESUMEN

Objective:This paper is intend to observe the feasibility of surgical approach with which communicating neoplasm outside cerebral dura mater and orbital fasciae was removed by transnasal endoscopic surgery.Method:Nine patients suffered from communicating neoplasm in the area of naso-orbital-cranio complex were treated with transnasal endoscopic surgery. The size of skull base bone defect was from 1.25 cm×1.13 cm to 3.25 cm×2.69 cm. No eye enucleation was done. No reconstructions of skull base and medial wall of orbital cavity were done. Iodoform gauze was packed in paranasal sinuses fourteen days. Patients with malignant tumor were treated radiation therapy and chemical therapy after surgical treatment. The degree of resection, complications of intracranial and orbital cavities, survival condition were the focus of this study.Result:The tumor were completely removed and all operations were successfully completed by trasnasal endoscopic surgery. Only one patient was required blood transfusion due to seriously bleeding from tumor during the operation. There was no orbital, intracranial, and vascular complications. The defect of bone at skull base and lamina papyracea were automatic reconstructed. Three patients have showed recurrence of neoplasm, and two of them died during two years of following up time.Conclusion:Transnasal endoscopic surgery is a safe, reliable and effective approach to treat communicating neoplasm in the area of naso-orbital-cranio complex, of which main part of tumor exists in the sinunasal cavity.


Asunto(s)
Endoscopía/métodos , Neoplasias Nasofaríngeas/clasificación , Neoplasias Nasofaríngeas/cirugía , Neoplasias Orbitales/clasificación , Neoplasias Orbitales/cirugía , Neoplasias de la Base del Cráneo/clasificación , Neoplasias de la Base del Cráneo/cirugía , Duramadre , Humanos , Neoplasias Nasofaríngeas/patología , Órbita , Neoplasias Orbitales/patología , Base del Cráneo/cirugía , Resultado del Tratamiento
18.
Oncogene ; 36(6): 840-849, 2017 02 09.
Artículo en Inglés | MEDLINE | ID: mdl-27669436

RESUMEN

Mesenchymal stromal cells (MSCs) are one of major components of the tumour microenvironment. Recent studies have shown that MSC tumour residence and their close interactions with inflammatory factors are important factors that affect tumour progression. Among tumour-associated inflammatory factors, transforming growth factor ß (TGFß) is regarded as a key determinant of malignancy. By employing a lung metastasis model of a murine breast cancer, we show here that the prometastatic effect of MSCs was dependent on their response to TGFß. Interestingly, we found that MSC-produced CXCL12, an important chemokine in tumour metastasis, was markedly inhibited by TGFß. Furthermore, silencing of CXCL12 in TGFß-unresponsive MSCs restored their ability to promote tumour metastasis. We found that 4T1 breast cancer cells expressed high levels of CXCR7, but not of CXCR4, both of which are CXCL12 receptors. In presence of CXCL12, CXCR7 expression on tumour cells was decreased. Indeed, when CXCR7 was silenced in breast cancer cells, their metastatic ability was inhibited. Therefore, our data demonstrated that sustained expression of CXCL12 by MSCs in the primary tumour site inhibits metastasis through reduction of CXCR7, while, in the presence of TGFß, this CXCL12 effect of MSCs on tumour cells is relieved. Importantly, elevated CXCR7 and depressed CXCL12 expression levels were prominent features of clinical breast cancer lesions and were related significantly with poor survival. Our findings reveal a novel mechanism of MSC effects on malignant cells through which crosstalk between MSCs and TGFß regulates tumour metastasis.


Asunto(s)
Neoplasias de la Mama/metabolismo , Quimiocina CXCL12/metabolismo , Células Madre Mesenquimatosas/metabolismo , Animales , Neoplasias de la Mama/genética , Neoplasias de la Mama/patología , Línea Celular Tumoral , Quimiocina CXCL12/genética , Regulación hacia Abajo , Femenino , Humanos , Ratones , Ratones Endogámicos BALB C , Ratones Endogámicos NOD , Ratones SCID , Metástasis de la Neoplasia , Receptores CXCR/biosíntesis , Transducción de Señal , Transfección
19.
Br Poult Sci ; 58(1): 26-31, 2017 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-27844487

RESUMEN

1. This study was conducted to explore the promoter region of the chicken ASB15 gene by detecting the activities of the dual luciferase reporter gene and to assess expression profiles of the ASB15 gene in 10 different tissues from Gushi chickens. 2. Five dual luciferase reporter gene vectors were constructed and transfected into DF1 cells. The activities of recombined plasmids were measured and the core promoter was confirmed by bioinformatic analysis. Total RNA was extracted and the relative expression of the ASB15 gene was examined. 3. Data analysis indicated that the promoter was located from -955 to -212 bp. Results showed that the chicken ASB15 gene was expressed in heart, breast muscle and leg muscle. 4. This study has confirmed the promoter region and the expression profile of the chicken ASB15 gene, which provides a foundation for further exploring its transcriptional regulation and function.


Asunto(s)
Repetición de Anquirina/genética , Pollos/genética , Expresión Génica , Regiones Promotoras Genéticas/genética , Proteínas/genética , Animales , Genes Reporteros/genética , Vectores Genéticos , Luciferasas/genética , Músculo Esquelético/metabolismo , Miocardio/metabolismo , Reacción en Cadena en Tiempo Real de la Polimerasa/veterinaria , Transfección
20.
J Helminthol ; 90(2): 166-73, 2016 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-26821707

RESUMEN

Paratylenchus nanjingensis n. sp. was obtained from Nanjing, Jiangsu Province, China. This new species is characterized by having a female with a slender, vermiform body (243-279 µm), head with distinct submedian lobes, slender and long stylet (64-68 µm), anchor-shaped stylet knobs, excretory pore anterior to the level of the stylet knobs, small lateral vulval flaps and lateral field with four lines; and male with more distinct body annuli, stylet lacking and pharynx degenerate. The internal transcribed spacer sequences of ribosomal RNA (ITS rRNA) gene of the new species were amplified and sequenced in this study. The phylogenetic relationships of the new species with other Paratylenchus species using the ITS rRNA gene sequences are given.


Asunto(s)
Nematodos/anatomía & histología , Nematodos/genética , Suelo/parasitología , Animales , China , Femenino , Masculino , Nematodos/clasificación , Filogenia , Pinus
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