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1.
Zhonghua Liu Xing Bing Xue Za Zhi ; 41(5): 700-704, 2020 May 10.
Artigo em Chinês | MEDLINE | ID: mdl-32447910

RESUMO

Objective: To analyze the heritability of coronary heart disease (CHD) among the Chinese twin adults. Methods: A total of 20 477 same-sex twin pairs aged 25 years and older from the Chinese National Twin Registry were interviewed. Structure equation model was used to estimate the heritability of CHD. Results: After adjusting for age and gender, the overall heritability of CHD was 0.75(0.68-0.81). Stratified analyses showed that genetic factors play a more important role in CHD incidence in ≥40 years or female twins. While the development of CHD was mainly influenced by environmental factors in 25-39 years or male twins. Conclusion: CHD is influenced by both genetic and environmental factors and the heritability is high.


Assuntos
Doença das Coronárias , Adulto , Grupo com Ancestrais do Continente Asiático , Doenças em Gêmeos , Feminino , Humanos , Masculino , Sistema de Registros
2.
Schizophr Res ; 2020 Apr 30.
Artigo em Inglês | MEDLINE | ID: mdl-32362460

RESUMO

BACKGROUND: Severity of negative symptoms has been associated with poor functioning, cognitive deficits, and defeatist beliefs in schizophrenia patients. However, one area that remains understudied is persistent negative symptoms (PNS). Negative symptoms, including PNS, have been observed in those at clinical high-risk (CHR) for psychosis. The aim of this study was to determine if PNS were associated with functioning, neurocognition, and defeatist beliefs in a CHR sample. METHOD: CHR participants (n = 764) were recruited for the North American Prodrome Longitudinal Study. Negative symptoms were rated on the Scale of Psychosis-risk Symptoms. Generalized linear mixed models for repeated measures were used to examine changes over time between and within groups (PNS vs non-PNS). RESULTS: The PNS group (n = 67) had significant deficits in functioning at baseline, 6, 12, 18, and 24-months compared to the non-PNS group (n = 673). Functioning improved over time in the non-PNS group, while functioning in the PNS group remained relatively stable and poor over a two-year period. A consistent trend emerged demonstrating higher defeatist beliefs in the PNS group; however, this result was lost when controlling for persistent depressive symptoms. There were no significant differences between the groups on neurocognition, social cognition, and transition to psychosis. CONCLUSIONS: PNS exist in youth at CHR for psychosis, resulting in significant and persistent functional impairment, which remains when controlling for persistent depressive symptoms. PNS remain even in CHR youth who do not transition to psychosis. Thus, PNS may represent an unmet therapeutic need in CHR populations for which there are currently no effective treatments.

4.
Zhonghua Yi Xue Za Zhi ; 100(12): 922-927, 2020 Mar 31.
Artigo em Chinês | MEDLINE | ID: mdl-32234167

RESUMO

Objective: To compare postoperative short-term outcomes and long-term prognosis between perioperative Enhanced Recovery After Surgery (ERAS) and conventional pathways protocols in gastric cancer patients. Methods: This is a single institute retrospective cohort study, all patients were pathologically proved to be gastric adenocarcinoma, underwent standard radical gastrectomy with D2 lymphadenectomy during the period of 2007-2012. Total 2124 cases were eligible to be analysed and divided into ERAS groups and Non-ERAS group according to the different perioperative pathway protocol. Propensity score matching method (in SPSS, 24.0 version, IBM Company) was used to balance the baseline characteristics. Two groups were matched in a 1∶1 ratio. There were 521 cases per group after matched. The short-term clinical outcomes (postoperative complications, length of hospital stay, blood loss, 30-day re-admission rate, etc.) and overall 5-year survival rates were compared between the two groups. Results: The incidence of overall postoperative complications was similar between the two groups (ERAS group=18.4%, non-ERAS group=19.4%, P=0.69), including anastomotic leakage, abdominal hemorrhage, etc. But the incidence of SSI, atelectasis, and thromboembolic disease in ERAS group was significant lower than that in Non-ERAS group. The number of lymph node harvested, operation time, intraoperative blood loss, postoperative hospital and cost in ERAS group were better than those in non-ERAS group. There were no significant differences in unplanned reoperation (ERAS group=3.1%, non-ERAS group=2.1%, P=0.33), 30 day readmission rate of discharge (ERAS group=6.1%, non-ERAS group=5.6%, P=0.69) and postoperative mortality (ERAS group=0.4%, non-ERAS group=0.2%, P=0.56) between the two groups. The 5-year overall survival rates of non-ERAS group and ERAS group were 66.2% and 72.8% respectively (P=0.007). The subgroup analysis found that 5-year OS rates of stage I were 93.4% and 92.7% (P=0.73), these of stage Ⅱ and Ⅲ were 82.2% vs 75.2% (P=0.007) and 47.6% vs 35.7% (P=0.02) in ERAS group and non-ERAS group respectively. Conclusions: Perioperative ERAS pathway management is safe and feasible for patients with gastric cancer, without increasing the incidence of complications and 30-day readmission rate. This protocol can improve the prognosis of patients with gastric cancer.


Assuntos
Laparoscopia , Neoplasias Gástricas , Gastrectomia , Humanos , Tempo de Internação , Excisão de Linfonodo , Complicações Pós-Operatórias , Estudos Retrospectivos , Resultado do Tratamento
5.
Zhonghua Yi Xue Za Zhi ; 100(12): 915-921, 2020 Mar 31.
Artigo em Chinês | MEDLINE | ID: mdl-32234166

RESUMO

Objective: To summarize the etiology of primary adrenal insufficiency (PAI) and analyze its clinical features. Methods: A retrospective analysis was performed in the Department of Endocrinology, Peking Union Medical College Hospital from October 1981 to June 2019. Patients with PAI as the first symptom were enrolled. The etiology of PAI was analyzed and the clinical characteristics was also summarized. Results: A total of 131 patients with PAI were enrolled, including 87 males and 44 females (57 adolescents, and 74 adults). The age ranged from 0 to 73 years. The primary cause of PAI in adolescents was genetic defects (52.6%, 30/57), in which congenital adrenal dysplasia caused by DAX1 gene deficiency accounted for 50.0% (15/30), followed by autoimmunity (22.8%, 13/57). The primary cause of adult PAI was infection (58.1%, 43/74), of which tuberculosis accounted for the majority (93.0%, 40/43), and autoimmune adrenalitis accounted for 19.0% (14/74). Compared with the tuberculosis group, female patients were more common, and the onset age was younger, the plasma cortisol, serum sodium, fasting blood glucose, creatinine and aldosterone were lower (all P<0.05), and serum potassium and renin levels were higher in the autoimmune adrenalitis group (both P<0.05). Conclusions: In the current study, the proportion of PAI caused by infection in the adult group was higher than that in the adolescent group. The most common cause of adult PAI was tuberculosis infection. The most common cause of childhood PAI was genetic defects. Autoimmune damage to the adrenal glands may be more severe than tuberculosis infection.


Assuntos
Insuficiência Adrenal , Adolescente , Glândulas Suprarrenais , Adulto , Idoso , Autoimunidade , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Adulto Jovem
6.
J Food Prot ; 83(4): 677-685, 2020 Apr 01.
Artigo em Inglês | MEDLINE | ID: mdl-32221573

RESUMO

ABSTRACT: Restaurants are a place where food is prepared and cooked directly for customers. Food safety in restaurants is a public health concern and a multidisciplinary issue that needs to be explored. To protect the health of consumers and identify external factors that may affect food safety risk, this study explores how economic development and population density at the local level relate to food safety inspection outcomes in restaurants of different sizes. Using food safety violation data from 2017 and 2018, we categorized restaurants in Gansu Province, China, into small and large ventures to examine the relationships among regional character, restaurant size, and food safety risk. Data were analyzed using Mann-Whitney U tests and negative binomial regression models. Our results show that large restaurants have a higher food safety risk than small restaurants. Moreover, the region with the lowest level of economic development had the highest food safety risk, while the region with the lowest population density had insufficient local inspections. By providing insight into which establishments demonstrate the highest food safety risks, our findings contribute to the development of processes that seek to effectively identifying food safety risks.

7.
Neoplasma ; 67(3): 576-583, 2020 May.
Artigo em Inglês | MEDLINE | ID: mdl-32182087

RESUMO

The standard therapy for malignant primary bone tumors such as osteosarcoma involves major surgeries. For tumors located in difficult regions such as the pelvis, surgical intervention could lead to serious side effects for example loss of a limb and/or function, loss of bowel, bladder and sexual function as well as problems with wound healing and surgical complications. Therefore, exploring other approaches that can improve or complement current surgical techniques is important. Hence, sensitizing primary bone tumors to radiation could offer an additional strategy that could complement surgery and significantly improve survival and quality of life. Gold nanoparticles (AuNPs) have been shown to enhance radiosensitivity by increasing the local dose of radiation inside tumors. Therefore, the referred procedure of preparation and functionalization of gold nanoparticles may be used for investigation whether DNA repair inhibition in the presence of AuNPs leads to an effective radiosensitizing strategy for primary bone tumor cells and explore the mechanism of how this may be happening. In our work, we prepared gold nanoparticles and verified the relation between the size of the AuNPs and their uptake in tumor 143B cells and also investigated whether the optimal size of the AuNPs should not be smaller than the size of nuclear envelope pores (20-50 nm). Hence, two different AuNPs systems were prepared: the first one with AuNPs core size of about 5 nm (BS) and the second one with AuNPs core size of about 50 nm (ZA). For cellular AuNPs uptake enhancement, we functionalized the AuNPs with signaling peptides. For this purpose we prepared PEG-coated AuNPs functionalized with signal peptides for targeted transport into the cytoplasm (CPP) and into the cell nucleus (CPP + NLS). The toxicity of the AuNPs systems was assessed by MTS assay. We prepared stable functionalized AuNPs systems of both sizes. With the functionalizing of the AuNPs using signal peptides (CPP, NLS), the AuNPs penetrated into the cell nucleus. The referred procedure of preparation and functionalization of gold nanoparticles may be used for investigating inhibition of DNA repair in the presence of AuNPs and it could lead to new understanding in overcoming radioresistance in primary bone tumor cells.

8.
Neurol India ; 68(2): 364-367, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32189712

RESUMO

Background: Neurofilament proteins as biomarkers of axonal degeneration have the potential to improve our capacity to predict and monitor neurological outcome in experimental autoimmune encephalitis (EAE), a model of multiple sclerosis (MS). We urgently need more accurate early predictive markers to direct the clinician when to provide neuroprotective therapy. Aims: To highlight the possible roles of neurofilament proteins in physiological and pathophysiological processes in the MS. Materials and Methods: Fifty female Wistar rats with MOG35-55 peptide induced EAE were randomly divided into two parts: control group and EAE group. All of them were along with expanded disability status scale (EDSS). The mice were sacrificed on day 0, 1, 3, 7, 14, and 28 after the first immunization. Supernatant and pellet were separated at the same time. The degradation rates of NF in the brain nerve and spinal cord of each rat were measured by Western Blotting. Statistical Analysis: The data were expressed as mean ± SD. Statistical analysis was performed with one-way analysis of variance (ANOVA), followed by LSD's post-hoc tests, which was provided by SPSS 23.0 statistical software. Results and Conclusions: Neurofilament light protein may be more useful as a measure of ongoing neurodegenerative activity in EAE, which would make this protein a potential candidate for use as a surrogate marker for assessment of treatments aimed at reducing axonal injury. Future studies are warranted to support or refute the value neurofilament in clinical practice.

9.
Poult Sci ; 99(3): 1471-1482, 2020 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-32111316

RESUMO

The objective of this study was to evaluate the effects of dietary linoleic acid (LA) on growth performance, antioxidant capacity, and lipid metabolism in pigeon squabs by supplementing LA in their parental diets. A completely randomized design that consisted of a control group, 1% dietary LA addition group (LA1%), 2% dietary LA addition group (LA2%), and 4% dietary LA addition group (LA4%) was used. Six squabs from each treatment were randomly sampled at the day of hatch and days 7, 14, and 21 after hatch. The results showed that parental dietary LA had no significant influence (P > 0.05) on body weight (BW) gain or relative organ weights (% of BW) in squabs. The activities of superoxide dismutase, catalase, and glutathione peroxidase in the LA1% were significantly increased (P < 0.05) compared with those in the control group. The malondialdehyde content in the LA1% was significantly lower (P < 0.05) than that in the control group. The levels of serum triglyceride in the LA1% and LA2% were significantly decreased (P < 0.05) compared with those in the control group, whereas the serum high-density lipoprotein cholesterol level in the LA1% and LA2% and the free fatty acid level in the LA4% were significantly higher (P < 0.05) than those of the control group. The activities of lipoprotein lipase, hepatic lipase, and hormone-sensitive lipase in the LA1% were significantly higher (P < 0.05) than those in the control group. The 3-hydroxy-3-methylglutaryl coenzyme A reductase activity in the LA1% and the hormone-sensitive lipase activity in the LA4% were significantly decreased (P < 0.05) compared with those in the control group. The mRNA expression of carnitine palmitoyltransferase 1, acyl-CoA 1, and peroxisome proliferator-activated receptor α was significantly upregulated (P < 0.05) in the LA1% compared with that in the control group. The Oil Red O staining area in the LA1% and LA2% was significantly reduced compared with that in the control group. The results indicated that although supplemental LA had negligible effects on growth and development in pigeon squabs, parental dietary LA at a concentration of 1% could have beneficial effects on maintaining squabs healthy as reflected by improved antioxidant capacity and lipid metabolism.

10.
Eur Rev Med Pharmacol Sci ; 24(4): 1656-1665, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-32141531

RESUMO

OBJECTIVE: Osteosarcoma (OS) is one common bone malignant tumor prevailing in young adults and children. It is increasingly recognized microRNA 449a (miR 449a) as an anti-tumor factor in various tumours. However, little is known about the biological significance of miR 449a in OS. The intent of our study was to seek the prognostic values of miR-449a in OS. PATIENTS AND METHODS: Quantitative real-time polymerase chain reaction (qRT-PCR) was performed to examine the level of miR-449a expression in 48 pairs of OS tissues and para-cancerous specimens, and the relationship between miR-449a level and clinical features of OS patient prognosis was analyzed. Moreover, we measured the miR-449a expression levels in OS cells. Transwell assay was further performed to investigate whether miR-449a influenced MG63 cell migration and invasion, which was important for malignant metastases. RESULTS: Quantitative real-time polymerase chain reaction (qRT-PCR) analysis demonstrated a notable decrease of miR-449a expressions in OS. The declined miR-449a expression was relevant with the poor prognosis and malignant clinicopathologic characteristics of OS patients. Thereafter, the functional assay was performed to determine the role of miR-449a in OS progression. Results of MTT (3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyl tetrazolium bromide) assays and transwell assays indicated that miR-449a overexpression significantly repressed OS cell proliferation, invasion, and migration. Furthermore, luciferase reporter assay showed that enhancer of zeste homolog 2 (EZH2) was a downstream target of miR-449a in OS cells. Additionally, Western blot analysis demonstrated that miR-449a exerted anti-OS functions via the regulation of phosphatidylinositol 3-kinase (PI3K)/protein kinase B (AKT) signaling pathway and epithelial-mesenchymal transition. We also indicated that miR-449a restoration could inhibit in vivo tumor growth. CONCLUSIONS: These results manifested that miR-449a may thus be used as a therapeutic target in OS treatments.

11.
Zhonghua Yi Xue Za Zhi ; 100(8): 586-592, 2020 Mar 03.
Artigo em Chinês | MEDLINE | ID: mdl-32164112

RESUMO

Objective: To analyze the detection of CYP21A2 gene mutations in 21-hydroxylase deficiency (21-OHD) patients, so as to determine the accuracy of clinical diagnosis. Methods: Totally, 514 patients with 21-OHD who visited Peking Union Medical College Hospital from January 2015 to January 2018 were enrolled and their clinical and biochemical data were collected. DNAs were extracted from peripheral blood leukocytes and CYP21A2 mutations were detected by Sanger sequencing and multiple ligation probe amplification (MLPA) technique. We divided 514 patients into three groups: two mutations of CYP21A2 alleles (group A), one mutation of CYP21A2 (group B), and no mutation of CYP21A2 (group C). Results: Mutation was detected in each allele of CYP21A2 gene in 401 (78.0%) patients, ninety (17.5%) had only one mutant allele and 23 (4.5%) had no mutation. There was no significant difference between the patients with different clinical phenotypes and the number of CYP21A2 gene mutations detected. In male, the cortisol of the patients with simple virilizing 21-OHD in group A [0.04 (0.02, 0.20) nmol/L] was lower than that of group B [0.24 (0.17, 0.28) nmol/L] and the difference was statistically significant (P=0.014). In female, 17-hydroxyprogesterone (17-OHP) of patients with salt wasting 21-OHD in group A [153.7 (90.1, 204.5) nmol/L] was higher than that of group B [38.2 (31.0, 183.3) nmol/L] and C [42.6 (27.8, 48.1) nmol/L] and the differences were statistically significant (both P<0.05). The progesterone of patients with simple virilizing 21-OHD in group C [23.0 (8.6, 33.2) nmol/L] was lower than that of gourp A [57.8 (34.4, 110.2) nmol/L] and B [63.6 (31.4, 110.8) nmol/L] and the difference were statistically significant (both P<0.05). The 17-OHP of patients with non-classical 21-OHD in group C [24.5 (20.4, 54.2) nmol/L] was lower than that of group A [158.7 (59.1, 187.6) nmol/L] and B [147.8 (131.9, 179.3) nmol/L]. The difference were statistically significant (both P<0.05). Conclusions: Mutations of two alleles have not been found in all patients with clinically diagnosed 21-OHD. Other congenital adrenal hyperplasia (CAH) types which can cause similar changes in 17-OHP and other hormones may be misdiagnosed as 21-OHD. Therefore, 21-OHD cannot be diagnosed with help of 17-OHP level only, and gene detection plays a vital role in the differential diagnosis of different CAH types.


Assuntos
Hiperplasia Suprarrenal Congênita/genética , Esteroide 21-Hidroxilase/genética , Feminino , Genótipo , Humanos , Masculino , Mutação
13.
J Hosp Infect ; 104(4): 452-453, 2020 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-32068012
14.
Behav Cogn Psychother ; 48(2): 248-252, 2020 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-30982487

RESUMO

BACKGROUND: Metacognition refers to the ability to evaluate and control our cognitive processes. While studies have investigated metacognition in schizophrenia and clinical high risk for psychosis (CHR), less is known about the potential mechanisms which result in metacognitive deficits. AIMS: We aimed to investigate whether neurocognitive functions including attention, working memory, verbal learning and executive functions predicted the tendency to focus on one's thoughts (cognitive self-consciousness) and beliefs in the efficacy of one's cognitive skills (cognitive confidence). METHOD: Participants (130 CHR individuals) were recruited as part of the multi-site PREDICT study. They were assessed using the Metacognitions Questionnaire (MCQ) as well as measures of executive function (WCST), attention (N-Back), working memory (LNS) and verbal learning (AVLT). RESULTS: Cognitive competence was negatively correlated with N-Back while cognitive self-consciousness was positively correlated with N-Back and LNS. Linear regression analysis with N-Back, AVLT, LNS and WCST as predictors showed that neurocognition significantly predicted cognitive self-consciousness, with N-Back, LNS and WCST as significant predictors. The model accounted for 14% of the variance in cognitive self-consciousness. However, neurocognition did not result in a significant predictive model of cognitive competence. CONCLUSIONS: Neurocognition was associated with an increased focus on one's thoughts, but it was not associated with higher confidence in one's cognitive skills. Neurocognition accounted for less than one-sixth of the variance in metacognition, suggesting that interventions that target neurocognition are unlikely to improve metacognitive abilities.

15.
Osteoarthritis Cartilage ; 28(1): 112-121, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31647983

RESUMO

OBJECTIVE: To identify the role of misshapen/NIK-related kinase (MINK1) in age-related Osteoarthritis (OA) and injury-induced OA, and the effects of enhanced TGFß signaling in these progresses. DESIGN: The effect of MINK1 was analyzed with MINK1 knock out (Mink1-/-) mice and C57BL/6J mice. OA progress was studied in age-related OA and instability-associated OA (destabilization of the medial meniscus, DMM) models. The murine knee joint was evaluated through histological staining, Osteoarthritis Research Society International (OARSI) scores, immunohistochemistry, and µCT analysis. Primary chondrocytes were isolated from wild type and Mink1-/- mice and subjected to osteogenic induction and Western blot analysis. RESULTS: MINK1 is highly expressed during cartilage development and in normal cartilage. Mink1-/- mice displayed markedly lower OARSI scores, aggrecan degradation neoepitope positive cells and increased Safranin O and pSMAD2 staining in aging-related OA model. However, in injury-induced OA, loss of MINK1 accelerates extracellular matrix (ECM) destruction, osteophyte formation, and subchondral bone sclerosis. Accelerated subchondral bone remodeling in Mink1-/- mice was accompanied with increased numbers of nestin-positive mesenchymal stem cells (MSCs) and osterix-positive osteoprogenitors. pSMAD2 staining was increased in the subchondral bone marrow of Mink1-/- mice and overexpression of MINK1 inhibited SMAD2 phosphorylation in vitro. CONCLUSIONS: This study shows for the first time that activation of TGFß/SMAD2 by MINK1 deficiency plays opposite roles in aging-related and injury-induced OA. MINK1 deficiency protects cartilage from degeneration in aging joints through increased SMAD2 activation in chondrocytes, while accelerating OA progress in injury-induced model through enhanced osteogenesis of MSCs in the subchondral bone. These findings provide insights for developing precision OA therapeutics targeting TGFß/SMAD2 signaling.

16.
Diabet Med ; 37(1): 84-94, 2020 01.
Artigo em Inglês | MEDLINE | ID: mdl-31365948

RESUMO

AIM: To translate the Compliance with Annual Diabetic Eye Exams Survey (CADEES) into Chinese, allowing assessment of its reliability and validity, and to identify variables that predict attendance at annual eye examinations. METHODS: People with vision-threatening diabetic retinopathy were recruited from the Shanghai Diabetic Eye Study. The study involved three phases: (1) translation and cross-cultural adaptation, (2) a pilot study (n = 496) to evaluate the psychometric properties of the Chinese-CADEES, and (3) a primary cross-sectional survey (n = 3818) to assess self-reported attendance at annual eye examinations. Factors related to non-attendance were identified using univariate analysis, and then a multiple logistic regression model. Finally, a component model and individual item models were built to predict attendance. RESULTS: The Chinese-CADEES had satisfactory reliability and validity. The issue of low attendance at annual eye examinations was serious. In addition to 13 health belief items, living in semi-urban suburban areas, shorter duration of diabetes, poor glucose control, lower education level, better presenting visual acuity and milder diabetic retinopathy diagnosis were significantly related to non-attendance. The multivariate predictive model was able to predict, with 64.7% accuracy, whether or not participants were going to attend annual eye examinations and explained ~ 11.3% of the variance in attendance. CONCLUSIONS: The Chinese-CADEES showed good reliability and validity for predicting attendance at annual eye examinations in people with diabetic retinopathy. Clinicians and researchers can improve attendance by addressing modifiable characteristics and increasing education on diabetic retinopathy and the importance of eye health in people with diabetes.

17.
Hum Exp Toxicol ; : 960327119891218, 2019 Dec 04.
Artigo em Inglês | MEDLINE | ID: mdl-31797699

RESUMO

In order to study the effects of chitinase-like protein YKL-40 on proliferation, apoptosis, and migration of human bronchial epithelial cell line (BEAS-2B), and the underlying mechanisms, we cultured BEAS-2B alone or with different concentrations of YKL-40. thiazolyl blue tetrazolium bromide (MTT) assay was used to examine the cell proliferation. Annexin V-fluorescein isothiocyanate isomer (FITC)/propidium iodide staining and scratch assay were performed to test the cell apoptosis and migration. The concentrations of transforming growth factor-ß1 (TGF-ß1), Smad3, Smad7, alpha-smooth muscle actin (α-SMA), interleukin-4 (IL-4), IL-6, and IL-8 in the cell culture supernatant were detected by enzyme-linked immunosorbent assay. The messenger RNA and protein levels of YKL-40, TGF-ß1, Smad3, Smad7, and α-SMA were detected by reverse transcription polymerase chain reaction and Western blot. BEAS-2B cells cultured with different concentrations of YKL-40 showed significantly higher cell proliferation and migration and inflammatory cytokines compared with that of control group, while the cell apoptosis was significantly lower than that of control group (p < 0.05). In addition, BEAS-2B cells cultured with YKL-40 had increased TGF-ß1, Smad3, Smad7, and α-SMA levels in the supernatant, compared with that of BEAS-2B cells cultured alone (p < 0.05). Furthermore, LY364947, as TGF-ß1/Smads signaling pathway inhibitor, decreased cell proliferation and migration ability and enhanced cell apoptosis of BEAS-2B cells compared with control group (p < 0.05). However, YKL-40 administration reversed the effect of LY364947 on the biological behavior of BEAS-2B cells. YKL-40 could affect the biological behaviors of BEAS-2B cells, which might be related to the TGF-ß1/Smads pathway.

18.
Zhonghua Yi Xue Za Zhi ; 99(48): 3765-3769, 2019 Dec 24.
Artigo em Chinês | MEDLINE | ID: mdl-31874511

RESUMO

Objective: To analyze the copy number variation of CYP21A2 gene in 21-hydroxylase deficiency (21-OHD) patients, and identify the three copy repetition, single copy deletion of CYP21A2 gene and the type and proportion of CYP21A1P/CYP21A2 fused gene in 21-OHD patients. Methods: A total of 424 patients (140 males and 284 females) with 21-OHD who visited Peking Union Medical College Hospital from January 2015 to January 2018 were enrolled and the average age was (17.1±12.4) years. All clinical and biochemical data were collected. DNAs were extracted from peripheral blood leukocytes, and CYP21A2 gene mutation and copy number variation were detected by Sanger sequencing and multiple ligation probe amplification (MLPA). Results: Of 424 21-OHD patients, 287 (67.7%) had two copies of CYP21A2 gene, 137 (32.3%) had copy number variation, of which 1 patients (0.2%) had 3 copies of CYP21A2 gene and 136 (32.1%) were carriers of large deletion/rearrangement mutation of CYP21A2 gene. Three pathogenic mutations including a truncated Q319X protein mutation were detected in the patient with 3 copies of CYP21A2 gene. Of 136 patients with large deletion/rearrangement mutation of CYP21A2 gene, 82 (60.3%) carried fused CYP21A1P/CYP21A2 gene, and the remaining 54 harbored the one allele deletion of CYP21A2. The most common types of fused CYP21A1P/CYP21A2 gene were CH-5, CH-1 and CH-2, with the frequency being 31.7% (26 cases), 26.8% (22 cases) and 19.5% (16 cases), respectively, and followed by CH-4 and CH-7, with the incidence being 8.5% (7 cases) and 4.9% (4 cases), respectively. In addition, two cases of CH-3, CH-6 and CH-8 and one case of CH-9 were detected. Conclusions: This is the first study to detect the occurrence of CYP21A2 gene copy number variation and fused CYP21A1P/CYP21A2 gene in a large cohort of 21-OHD patients. The number of CYP21A2 gene copies in 21-OHD patients includes 2 copies, 1 copy deletion and 3 copies duplication. One copy deletion of CYP21A2 includes one allele deletion of CYP21A2 gene and fused CYP21A1P/CYP21A2 gene. In patients with 3 copies of CYP21A2 gene, pathogenic mutations should be verified in all 3 copies of CYP21A2 gene to make the precise diagnosis. Therefore, the accurate molecular diagnosis of 21-OHD patients should take both genotype and copy number variation of CYP21A2 into account.


Assuntos
Hiperplasia Suprarrenal Congênita/genética , Variações do Número de Cópias de DNA , Pseudogenes/genética , Esteroide 21-Hidroxilase/genética , Adolescente , Feminino , Genótipo , Humanos , Masculino , Mutação , Adulto Jovem
19.
Zhonghua Xue Ye Xue Za Zhi ; 40(11): 889-894, 2019 Nov 14.
Artigo em Chinês | MEDLINE | ID: mdl-31856435

RESUMO

Objective: To investigate the current status and real performance of the detection of RUNX1-RUNX1T1 fusion transcript levels and WT1 transcript levels in China through interlaboratory comparison. Methods: Peking University People's Hospital (PKUPH) prepared the samples for comparison. That is, the fresh RUNX1-RUNX1T1 positive (+) bone morrow nucleated cells were serially diluted with RUNX1-RUNX1T1 negative (-) nucleated cells from different patients. Totally 23 sets with 14 different samples per set were prepared. TRIzol reagent was added in each tube and thoroughly mixed with cells for homogenization. Each laboratory simultaneously tested RUNX1-RUNX1T1 and WT1 transcript levels of one set of samples by real-time quantitative PCR method. All transcript levels were reported as the percentage of RUNX1-RUNX1T1 or WT1 transcript copies/ABL copies. Spearman correlation coefficient between the reported transcript levels of each participated laboratory and those of PKUPH was calculated. Results: ①RUNX1-RUNX1T1 comparison: 9 samples were (+) and 5 were (-) , the false negative and positive rates of the 20 participated laboratories were 0 (0/180) and 5% (5/100) , respectively. The reported transcript levels of all 9 positive samples were different among laboratories. The median reported transcript levels of 9 positive samples were from 0.060% to 176.7%, which covered 3.5-log. The ratios of each sample's highest to the lowest reported transcript levels were from 5.5 to 12.3 (one result which obviously deviated from other laboratories' results was not included) , 85% (17/20) of the laboratories had correlation coefficient ≥0.98. ②WT1 comparison: The median reported transcript levels of all 14 samples were from 0.17% to 67.6%, which covered 2.6-log. The ratios of each sample's highest to the lowest reported transcript levels were from 5.3-13.7, 62% (13/21) of the laboratories had correlation coefficient ≥0.98. ③ The relative relationship of the reported RUNX1-RUNX1T1 transcript levels between the participants and PKUPH was not always consistent with that of WT1 transcript levels. Both RUNX1-RUNX1T1 and WT1 transcript levels from 2 and 7 laboratories were individually lower than and higher than those of PKUPH, whereas for the rest 11 laboratories, one transcript level was higher than and the other was lower than that of PKUPH. Conclusion: The reported RUNX1-RUNX1T1 and WT1 transcript levels were different among laboratories for the same sample. Most of the participated laboratories reported highly consistent result with that of PKUPH. The relationship between laboratories of the different transcript levels may not be the same.


Assuntos
Leucemia Mieloide Aguda , China , Subunidade alfa 2 de Fator de Ligação ao Core , Humanos , Proteína 1 Parceira de Translocação de RUNX1 , Reação em Cadeia da Polimerase em Tempo Real , Transcrição Genética , Proteínas WT1
20.
Zhonghua Er Ke Za Zhi ; 57(11): 870-875, 2019 Nov 02.
Artigo em Chinês | MEDLINE | ID: mdl-31665842

RESUMO

Objective: To investigate the influence of five-in-one management mode(standardized asthma treatment, asthma diary, peak expiratory flow (PEF) monitoring, reasonable diet and physical exercise) on disease prevention and control of school children with asthma. Methods: From April to October 2018, 70 children with asthma in clinical remission were selected from Affiliated Hospital of Qingdao University using randomized controlled study design. These children were randomly divided into study group and control group, with 35 cases in each group. In the study group, 5 cases were lost to follow-up, and 30 cases were actually enrolled. In the control group, 6 cases were lost to follow-up, and 29 cases were actually enrolled. Children in the control group received routine medication and regular outpatient consultation, and children in the study group received the five-in-one asthma management model. In the first time of seeing a doctor, after 3 months and 6 months of follow-up, asthma control test score, medication compliance index score and lung function index (forced expiratory volume in 1 second (FEV1), PEF were evaluated respectively.Parental satisfaction, asthma acute episodes, weight, height and biochemical index were recorded during the 6 months of follow-up. Pulmonary function index, asthma control score and body mass index of overweight children with asthma were compared with t-test, medication compliance was compared with chi-square test, and the rank sum test was used for the comparison of the number of emergency visits of asthma attacks and parents' satisfaction. Results: A total of 59 children with asthma were included, among them 30 were in the study group (8.1±1.5) years old and 29 in the control group (9.2±1.1) years old. After 3 months of follow-up, FEV1, PEF, asthma control score in the study group were (86.3±1.5)%, (83.3±2.4)%, (24.7±2.6) points respectively; and in the control group, FEV1, PEF, asthma control score were (84.4±2.5)%, (82.2±1.9)%, (21.1±1.3) points respectively. The indicators in the study group were higher than those in the control group (t=3.62, 1.97, 6.64, P<0.05). After 6 months of follow-up, FEV1, PEF, asthma control score in the study group were (88.4±2.3)%, (85.4±2.2)%, (26.8±1.8) points respectively; and in the control group, FEV1, PEF, asthma control score were (85.5±1.9)%, (83.2±1.7)%, (22.5±1.4) points respectively. The indicators in the study group were significantly higher than those in the control group (t=5.34, 4.24, 10.41, P<0.05). During the 6-month follow up, the number of emergency visits of asthma attacks in the study group and in the control group were 0.42(0.36, 0.51) and 0.92(0.72, 1.27) respectively. The indicator in the study group was significantly lower than that in the control group (Z=3.21, P<0.05). After 3 months of follow-up, the proportions of children with good compliance in the study group and control group were 67% (20/30) and 62% (18/29), the proportions of poor compliance were 27% (8/30) and 34% (10/29), the proportions of non-compliance were 7% (2/30) and 7% (2/29). There were no statistically significant differences (χ(2)=0.14, 0.43, 0.00, P=0.71, 0.51, 0.97). After 6 months of follow-up, the proportions of children with good compliance in the study group and control group were 87% (26/30) and 69% (20/29), the proportion of poor compliance were 10% (3/30) and 28% (8/29), the proportion of non-compliance were 3% (1/30) and 7% (2/29), There were no statistically significant differences (χ(2)=2.70, 3.00, 0.39, P=0.10, 0.08, 0.53). After 6 months of follow-up, the number of great satisfaction, satisfaction and dissatisfaction in the study group were 20, 10 and 0 respectively, the satisfaction rate was 100%, meanwhile those indicators in the control group were 4, 15 and 10 respectively, the satisfaction rate was 66%, The indicator in the study group was significantly higher than that in the control group (Z=4.60, P<0.05). Conclusions: The application of "five-in-one" asthma management model (standardized asthma treatment, asthma diary, PEF monitoring, reasonable diet and physical exercise) for school-age children with asthma can significantly improve lung function, as well as reduce the number of acute asthma attacks. It has a high parent satisfaction, therefore it should be recommended for clinical implementation.


Assuntos
Asma/prevenção & controle , Gerenciamento Clínico , Criança , Feminino , Volume Expiratório Forçado , Humanos , Pulmão , Masculino , Testes de Função Respiratória
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