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1.
Zhonghua Bing Li Xue Za Zhi ; 49(1): 17-21, 2020 Jan 08.
Artigo em Chinês | MEDLINE | ID: mdl-31914529

RESUMO

Objective: To investigate the clinicopathological features, diagnosis and differential diagnosis of monomorphic epitheliotropic intestinal T-cell lymphoma (MEITL). Methods: A total of 12 specimens were collected, which were surgically resected and verified as MEITL by postoperative pathology, immumohistochemical staining and gene rearrangement at the First Affiliated Hospital of Nanjing Medical University from 2012 to 2018, and all of these had complete clinical and pathological data. The MEITL cases were reviewed to compare the clinicopathological characteristics, including morphologic and immunophenotypic features and followed up by telephone and clinic visit. Results: All the cases were diagnosed with MEITL. There were 8 males and 4 females. Male to female ratio was 2∶1, at a median age of 54 years. The sites of involvement included jejunum (4 cases), ileum (5 cases), duodenum (1 case), ileocecal junction (1 case) and rectum (1 case). The neoplastic cells were monotonous of small to intermediate cells in size with round to slightly irregular nuclei in 11 cases. The immunophenotyping showed that CD3 (12/12), CD8 (11/12), CD43 (11/12), CD56 (11/12), TIA-1 (12/12) were positive; CD5 (12/12), Gran B (9/12), and perforin (7/12) were negative. Two cases aberrantly expressed the B-cell marker CD20. A high proliferation index was demonstrated by Ki-67 immunostaining. In situ hybridization for EBER was all negative(12/12). The whole exome sequencing(WES) mutational landscape of MEITL was remarkably homogeneous, showing significantly enriched clusters among histone modifier genes, JAK-STAT and MAPK-signal pathways. Histonelysine N-methytransferase SETD2 gene was mutated in 2/4 tumors. All the patients analyzed harbored at least one mutation in the JAK-STAT signal pathway, including STAT5B (2/4), JAK3 (3/4) and STAT5A (2/4). Furthermore, frequent alterations (TP53) were observed in the MAPK pathway in 3/4 of MEITL cases. The CNV analysis derived from WES data identified multiple regions of frequent gains and losses. In particular, gains in 1q, 7q and 9q, and recurrent losses involving 7p and 8p were observed. Conclusions: MEITL is a rare and aggressive type of extranodal T-cell lymphoma. The differential diagnosis of MEITL includes EATL, extranodal NT/T-cell lymphoma and other types of PTCL. Diagnosis should be correlated to clinical symptoms while the final diagnosis is mainly based on the pathological features, immunophenotypes and genetic testing.


Assuntos
Linfoma de Células T Associado a Enteropatia , Feminino , Testes Genéticos , Humanos , Masculino , Pessoa de Meia-Idade , Mutação , Transdução de Sinais
2.
Zhonghua Wei Chang Wai Ke Za Zhi ; 22(12): 1118-1123, 2019 Dec 25.
Artigo em Chinês | MEDLINE | ID: mdl-31874526

RESUMO

As the rapid development of minimally invasive techniques, anesthesia, and enhanced recovery after surgery (ERAS), anorectal day surgery receiving more and more attention by improving efficiency of medical care while reducing cost and hospitalized infection. However, day surgery also faces the challenge of completing the whole process from patient admission to discharge within 24 hours. Therefore, establishing a reasonable and detailed day surgery process is the cornerstone to guarantee safe medical practice and patients satisfaction. National Clinical Research Center for Geriatric Disorders (Xiangya), together with China Ambulatory Surgery Alliance formulates the clinical practice guideline for anorectal day surgery 2019 edition. Here we make some interpretations of the guidelines on the detailed process of anorectal day surgery, including indication, preoperative examination, preoperative risk evaluation, health education, assessment of day surgery anesthesia and before leaving postanesthesia care unit (PACU), postoperative management, assessment of discharge and follow-up, for the convenience of various medical centers.


Assuntos
Procedimentos Cirúrgicos Ambulatórios/normas , Assistência ao Paciente/normas , Guias de Prática Clínica como Assunto/normas , Protectomia/normas , Idoso , Canal Anal/cirurgia , Humanos , Reto/cirurgia
3.
Fa Yi Xue Za Zhi ; 35(4): 387-392, 2019 Aug.
Artigo em Inglês, Chinês | MEDLINE | ID: mdl-31532143

RESUMO

Abstract: Objective Quantitative analysis and comparison of the expression of ribonucleic acid (RNA) from frozen organs and formaldehyde-fixed and paraffin-embedded (FFPE) tissues. Methods Frozen specimens of human brain, myocardium and liver tissues as well as FFPE samples at different postmortem intervals were collected and mass concentration of RNA was extracted and detected. Reverse transcription-quantitative polymerase chain reaction (RT-qPCR) technology was used to analyze the amplification efficiency and relative expression of each RNA marker. Results The mass concentration and integrity of RNA extracted from FFPE samples were relatively low compared with frozen specimens. The amplification efficiency of RNA markers was related with RNA species and the length of amplification products. Among them, glyceraldehyde-3-phosphate dehydrogenase (GAPDH) and ß-actin (ACTB) with relatively long amplification products failed to achieve optimal amplification efficiency, whereas 5S ribosomal RNA (5S rRNA) achieved ideal amplification efficiency and showed quite stable expression across various tissues, therefore it was chosen as internal reference marker. The expression quantity of GAPDH and ACTB in frozen specimens with longer postmortem intervals and in FFPE samples with relatively long amplification products was decreased. The expressions of tissue-specific microRNAs (miRNAs), GAPDH and ACTB with relatively short amplification products had consistency in the same tissues and FFPE samples. Conclusion Through standardizing the RT-qPCR experiment, selecting the appropriate RNA marker and designing primers of appropriate product length, RNA expression levels of FFPE samples can be accurately quantified.


Assuntos
Formaldeído , MicroRNAs/análise , Inclusão em Parafina , RNA/análise , Reação em Cadeia da Polimerase em Tempo Real/normas , Primers do DNA , Perfilação da Expressão Gênica , Humanos , Miocárdio
4.
Zhonghua Yu Fang Yi Xue Za Zhi ; 53(9): 947-950, 2019 09 06.
Artigo em Chinês | MEDLINE | ID: mdl-31474080

RESUMO

From March 2015 to February 2018, 4 728 women aged 18 to 45 years old with single-pregnancy at the gestational age of 13 to 27 weeks in Hefei were recruited to analyze the trend of vitamin D status. The average levels of serum 25(OH)D in 2015, 2016 and 2017 were (43.22±18.41) nmol/L, (39.3±15.1) nmol/L and (36.6±17.0) nmol/L, and the prevalence of vitamin D deficiency were 69.5%, 77.6% and 81.4%, respectively. Compared with 2015, the levels of serum 25(OH)D in pregnant women in 2016 and 2017 decreased by 5.23 (95%CI: 4.10-6.35) nmol/L and 7.98 (95%CI: 6.77-9.19) nmol/L. The OR (95%CI) values for the risk of vitamin D deficiency were 1.88 (95%CI: 1.57-2.24) and 2.41 (95%CI: 1.98-2.93).


Assuntos
Complicações na Gravidez , Deficiência de Vitamina D , Vitamina D , Adolescente , Adulto , Feminino , Idade Gestacional , Humanos , Pessoa de Meia-Idade , Gravidez , Complicações na Gravidez/sangue , Complicações na Gravidez/epidemiologia , Prevalência , Fatores de Risco , Vitamina D/sangue , Deficiência de Vitamina D/sangue , Deficiência de Vitamina D/epidemiologia , Adulto Jovem
5.
Zhonghua Yu Fang Yi Xue Za Zhi ; 53(8): 817-823, 2019 08 06.
Artigo em Chinês | MEDLINE | ID: mdl-31378042

RESUMO

Objective: To explore the association between the exposure to major air pollutants in pre-pregnancy and early pregnancy (peri-conceptional period) and gestational diabetes mellitus (GDM). Methods: From March 2015 to April 2018, 4 817 pregnancies were recruited at three prenatal check-ups hospital in Hefei (Hefei First People's Hospital, Hefei. Maternal and Child Care Hospital and the First Affiliated Hospital of Anhui Medical University), China. Questionnaire was used to collect the demographic data, the health status and lifestyle of pregnant women. GDM was diagnosed according to the Chinese Guidelines for the Prevention and Treatment of Type 2 Diabetes (2017 Edition). Logistic regression was used to investigate the association of exposure to major air pollutants (PM(2.5), PM(10), SO(2), CO and NO(2)) during different periods of pre-pregnancy (12 weeks before pregnancy) and first trimester (12 weeks after last menstruation) and duration of exposure to high levels of pollutants with GDM. Results: The mean±SD of the age of subjects was (29.14±4.19) years old and the prevalence of GDM was 21.4% (n=1 030). The results of multivariate logistic regression analysis showed that after adjusting for confounding factors, the risk of GDM increased gradually with the prolonged exposure time of high-concentration pollutants compared with pregnant women who were not exposed to high pollution during the pre-pregnancy (χ(2)=61.28, P(trend)<0.001) with the OR (95%CI) values for exposure time of 1, 2, and 3 months about 1.42 (1.10-1.84), 1.73 (1.29-2.33), and 2.51 (1.75-3.59), respectively. In the pre-pregnancy period, in every 10 µg/m(3) increase of PM(2.5) and PM(10), the OR (95%CI) values of GDM were 1.14 (1.08-1.20) and 1.13 (1.08-1.19), respectively; for each increase of 1 µg/m(3) and 0.10 mg/m(3) of SO(2) and CO, the OR (95% CI) values of GDM were 1.03 (1.01-1.05) and 1.07 (1.01-1.13), respectively. For every 1 µg/m(3) increase in the average concentration of SO(2) in the first trimester, the OR (95%CI) value of GDM was 1.02 (1.01-1.05). Conclusion: PM(2.5), PM(10), SO(2) and CO exposure during the pre-pregnancy and SO(2) exposure in first trimester were positively correlated with the risk of GDM.


Assuntos
Poluição do Ar/efeitos adversos , Diabetes Gestacional/epidemiologia , Adulto , China/epidemiologia , Feminino , Humanos , Material Particulado/efeitos adversos , Gravidez , Estudos Prospectivos
6.
Zhonghua Er Ke Za Zhi ; 57(8): 597-602, 2019 Aug 02.
Artigo em Chinês | MEDLINE | ID: mdl-31352744

RESUMO

Objective: To study the relationship between human cytomegalovirus (HCMV) envelope glycoprotein gene H and clinical features of children with congenital cytomegalovirus infection. Methods: A cohort study was conducted. Newborns diagnosed with congenital cytomegalovirus infection, hospitalized in the Department of Neonatology and Neonatal Intensive Care Unit (NICU) of the Children's Hospital, Zhejiang University School of Medicine, were included from July 2013 to December 2015.HCMV-DNA gH typing in urine, sputum or blood was conducted. Patients then were divided into gH1 group and gH2 group according to gH genotypes. Patients' data during hospitalization in newborn and 3-5 years of follow-up were collected.The relationships between gH genotype and clinical manifestations, laboratory examinations, hearing loss and neurological prognosis were analyzed by chi-square test, t test and non-parametric test. Results: A total of 21 cases were enrolled as congenital HCMV infection and followed-up for 3-5 years. Among them, 14 (67%) were gH1 type and 7 (33%) were gH2 type. No mixed infection was found. In the two groups, there were no significant differences in the ratio of males (9/14 vs. 3/7,P=0.397), or birth weight ((2 609±686) vs. (3 021±451) g, t=-1.436, P=0.167). Gestational age of gH1 group was younger than that of gH2 group (38 (29-40) vs. 39(38-40) weeks, Z=-2.18, P=0.029). Moderate to severe hearing loss detected by neonatal auditory brainstem response were found in 40 ears (20 cases). It was higher in gH1 group than that in gH2 group (4/22 vs.0/18, χ(2)=5.145, P=0.023). In the imaging examination of the nervous system, the Alarcon score of gH1 group was lower than that of gH2 group (0.4±0.3 vs. 1.3±1.1, t=-2.459,P=0.024).No significant statistical difference was found in the probability of motor or language development lag in gH2 group and gH1 group (4/7 vs.4/14, P=0.346). Conclusions: Compared with gH2 infection, gH1 infection in children has a younger gestational age. The major type of hearing loss in neonatal period is gH1 infection. Children with gH2 congenital infections are more likely to suffer from nervous systems damage.


Assuntos
Infecções por Citomegalovirus/congênito , Infecções por Citomegalovirus/virologia , Citomegalovirus/classificação , Citomegalovirus/genética , Proteínas do Envelope Viral/genética , Criança , Estudos de Coortes , Citomegalovirus/isolamento & purificação , Infecções por Citomegalovirus/genética , Primers do DNA , Genótipo , Humanos , Recém-Nascido , Masculino
7.
Zhonghua Liu Xing Bing Xue Za Zhi ; 40(7): 815-820, 2019 07 10.
Artigo em Chinês | MEDLINE | ID: mdl-31357805

RESUMO

Objective: To explore the relationship between the vitamin D levels and lipid metabolism during second trimester. Methods: A total of 1 875 pregnant women who were in the second trimester and had antenatal care in 3 hospitals in Hefei of Anhui province from March 2015 to February 2018 were included. Baseline questionnaire survey was performed, and fasting venous blood samples were collected from the pregnant women to detect serum 25(OH)D, cholesterol (TC), triglyceride (TG), high-density lipoprotein (HDL-C) and low-density lipoprotein (LDL-C) levels. Cubic non-linear model and linear regression model were used to analyze the linear relationship between vitamin D levels and lipid metabolism indicators in the second trimester. Results: The vitamin D deficiency rate was 75.3% (1 412/1 875) in the pregnant women. The mean levels of lipid metabolism indicators TC, TG, HDL-C and LDL-C were (233.22±38.87), (226.24±83.88), (79.04±12.77), and (109.54±25.95) mg/dl respectively. Multivariate linear regression model results showed, compared with Q5 of the 25(OH)D, the TC and TG levels of Q1-Q4 groups significantly increased, and the LDL-C of Q1 and Q2 groups significantly increased. The highest difference between TC, TG and LDL-C was observed in Q1 group. (TC: ß=16.88, 95%CI: 10.50-23.26; TG: ß=34.92, 95%CI: 21.32-48.53; LDL-C: ß=9.06, 95%CI: 4.77-13.35). No significant differences in HDL-C level among the 5 groups were observed. When stratified with vitamin D deficiency the results showed that, when 25(OH)D was <50 nmol/L, TC, TG and LDL-C levels decreased by 3.53 (95%CI: 1.30-5.75), 7.42 (95%CI: 2.41 to 12.44) and 2.08 mg/dl (95%CI: 0.60-3.57) along with a 10 nmol/L increase of 25(OH)D, the difference was statistically significant, and when 25(OH)D was ≥50 nmol/L, no significant correlation was found between 25(OH)D level and TC, TG and LDL-C levels. No significant relationship between 25(OH)D level and HDL-C level was observed regardless of vitamin D deficiency. Conclusions: There was a nonlinear relationship between vitamin D levels and lipid metabolism indicators in the second trimester. There was a significant negative correlation between 25(OH)D level and lipid metabolism indicators only in the deficiency of vitamin D.


Assuntos
Metabolismo dos Lipídeos , Segundo Trimestre da Gravidez/metabolismo , Vitamina D/sangue , Feminino , Humanos , Gravidez
8.
Opt Express ; 27(7): 9716-9724, 2019 Apr 01.
Artigo em Inglês | MEDLINE | ID: mdl-31045120

RESUMO

In this paper, we report a 3.7 kW all fiber narrow linewidth single mode fiber laser. The full width at half-maximum is about 0.30 nm, and the beam quality is Mx2=1.358, My2=1.202 at maximum output power. The laser is achieved by simultaneously suppressing nonlinear effects and mode instability (MI). Different seeds are injected into the main amplifier to study stimulated Raman scattering (SRS) effect. The results show that the phase modulated single frequency seed is benefit to suppress the SRS effect. For the phase modulated single frequency seed, inserting a filter in preamplifier will suppress amplified spontaneous emission (ASE) and decrease the backward power. By optimizing the coiling of active fiber, the MI effect is suppressed.

10.
Zhonghua Yu Fang Yi Xue Za Zhi ; 52(10): 1008-1012, 2018 Oct 06.
Artigo em Chinês | MEDLINE | ID: mdl-30392318

RESUMO

Objective: To study serum zinc level in pregnancy and umbilical cord blood and their association with newborn birth weight. Methods: Pregnant women accepting obstetric examination in Ma'anshan Maternal and Child Care Center were recruited from May 2013 to September 2014. The follow up was conducted during their first, second and third trimesters of pregnancy and the self-designed questionnaire was used to collect information of social and demographic characteristics. Blood samples in the first, second pregnancy period and umbilical cord blood samples were collected and serum concentrations of zinc were assayed. 3 239 mother-infant entered the final analysis. We divided serum zinc level into low (P(75)) groups according to their exposure concentrations at each trimesters. Non-conditional multivariate logistic regression model was conducted to evaluate the association between serum zinc level in first, second trimesters of pregnancy and umbilical cord blood with small for gestational age (SGA) and large for gestational age (LGA). Results: Serum zinc level in P(50) (P(25)-P(75)) during the first, second trimesters and cord blood were 1 016.18 (907.09-1 145.60), 813.36 (732.47-897.89) and 903.44 (808.71-1 015.64) µg/L, respectively. The prevalence of zinc deficiency during the first, second trimesters and cord blood were 1.5% (44/2 957), 15.9% (492/3 087) and 6.5% (176/2 707), respectively. The prevalence of total SGA and LGA were 9.7% (313/3 239) and 16.5% (536/3 239), respectively. Compared to high-level serum zinc group, the risk of SGA (OR (95%CI) in low-level serum zinc group during first trimesters was 1.51 (1.05-2.19)). Serum zinc level among second pregnancy period and umbilical cord blood had no statistically significant effect on SGA and LGA (both P values >0.05). Conclusion: Zinc nutritional status of pregnant women in Ma'anshan city was at a good level. The low serum zinc level in first trimester increased the risk of SGA.


Assuntos
Peso ao Nascer , Sangue Fetal/química , Zinco/sangue , Estudos de Coortes , Feminino , Humanos , Recém-Nascido , Gravidez
11.
Zhonghua Kou Qiang Yi Xue Za Zhi ; 53(8): 572-576, 2018 Aug 09.
Artigo em Chinês | MEDLINE | ID: mdl-30078275

RESUMO

Oral cavity is one of the main organs involved in chronic graft versus host disease (cGVHD). Oral cGVHD seriously affects the patient's quality of life. Topical use of glucocorticoid and other agents is the primary topical treatment of oral cGVHD, oral photochemical therapy and various new methods have also been applied in patients recently. These important adjuvant therapies are based on the systemic use of drugs such as immunosuppressive agents, and sometimes, may be the only effective treatment for oral cGVHD. This review will focus on the application of topical agent treatment and oral photochemotherapy in oral cGVHD patients.


Assuntos
Doença Enxerto-Hospedeiro/tratamento farmacológico , Doenças da Boca/tratamento farmacológico , Fotoquimioterapia/métodos , Administração Tópica , Adulto , Pesquisa Biomédica , Doença Crônica , Feminino , Glucocorticoides/administração & dosagem , Humanos , Imunossupressores/administração & dosagem , Masculino , Qualidade de Vida , Resultado do Tratamento
12.
Sci Rep ; 8(1): 9052, 2018 Jun 13.
Artigo em Inglês | MEDLINE | ID: mdl-29899347

RESUMO

A fundamental challenge for surface acoustic wave (SAW) temperature sensors is the detection of small temperature changes on non-planar, often curved, surfaces. In this work, we present a new design methodology for SAW devices based on flexible substrate and bimorph material/structures, which can maximize the temperature coefficient of frequency (TCF). We performed finite element analysis simulations and obtained theoretical TCF values for SAW sensors made of ZnO thin films (~5 µm thick) coated aluminum (Al) foil and Al plate substrates with thicknesses varied from 1 to 1600 µm. Based on the simulation results, SAW devices with selected Al foil or plate thicknesses were fabricated. The experimentally measured TCF values were in excellent agreements with the simulation results. A normalized wavelength parameter (e.g., the ratio between wavelength and sample thickness, λ/h) was applied to successfully describe changes in the TCF values, and the TCF readings of the ZnO/Al SAW devices showed dramatic increases when the normalized wavelength λ/h was larger than 1. Using this design approach, we obtained the highest reported TCF value of -760 ppm/K for a SAW device made of ZnO thin film coated on Al foils (50 µm thick), thereby enabling low cost temperature sensor applications to be realized on flexible substrates.

13.
Eur Rev Med Pharmacol Sci ; 22(9): 2839-2846, 2018 05.
Artigo em Inglês | MEDLINE | ID: mdl-29771437

RESUMO

OBJECTIVE: To investigate the effects of hyperkalemia on the brain after I/R in h transient middle cerebral artery occlusion (tMCAO) model. MATERIALS AND METHODS: A total of 120 adult male SD rats were randomly assigned to four groups: (1) hyperkalemia 80 µg/g (HK80) group; (2) hyperkalemia 40 µg/g (HK40) group; (3) normal saline (NS) group; (4) sham (SH) group. The concentration of serum K+ was elevated in HK80 and HK40 groups. The transient middle cerebral artery occlusion (tMCAO) model was used to assess the effect of hyperkalemia on the brain after I/R. After 24 h reperfusion, the infarct volume and cell damage of rat's I/R brain tissue sections were analyzed. The concentration of K+, Ca2+ and calmodulin (CaM), the activity of Ca-ATPase, the expression of Western blot of Ca2+/calmodulin-dependent protein kinase II (CaMKII) and Na+/Ca2+ exchanger 1 (NCX1), were also measured. RESULTS: After 24 h reperfusion, compared with NS group, the two-hyperkalemia groups (HK80 and HK40) were with less infarct volume and cell damage, higher concentration of K+ but lower Ca2+ and CaM compared with NS group. The activity of Ca-ATPase was also elevated, the expression of CaMK II and NCX1 were down-regulated in the two hyperkalemia groups. CONCLUSIONS: Hyperkalemia could also ameliorate the brain I/R injury by alleviating calcium overload inhibiting the activity of NCX1, lowering the concentration of Ca2+.


Assuntos
Isquemia Encefálica/metabolismo , Encéfalo/metabolismo , Hiperpotassemia/metabolismo , Miocárdio/metabolismo , Traumatismo por Reperfusão/metabolismo , Animais , Encéfalo/patologia , Isquemia Encefálica/patologia , Cálcio/sangue , Coração , Hiperpotassemia/patologia , Masculino , Miocárdio/patologia , Ratos , Ratos Sprague-Dawley , Traumatismo por Reperfusão/patologia , Trocador de Sódio e Cálcio/metabolismo
14.
Oral Dis ; 24(6): 964-971, 2018 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-29498794

RESUMO

OBJECTIVES: To observe relationships between oral Candida status and salivary human beta-defensin 2 and 3 (hBD-2 and hBD-3) levels in HIV/AIDS patients of Guangxi, China during the first year of antiretroviral therapy (ART) dynamically, and to understand the influence of ART on oral Candida status and salivary hBDs expressions. METHODS: A prospective self-controlled study was carried to observe the dynamic changes of CD4+ T cell counts, oral Candida carriages and salivary hBD-2,3 expressions in HIV/AIDS patients during the first year of ART. A total of 90 HIV/AIDS patients were enrolled and were examined at the baseline, 3rd, 6th, 12th month of ART. Thirty healthy individuals were enrolled as control. Peripheral blood, oral rinse sample, and unstimulated whole saliva were collected to test CD4+ T cell counts, oral Candida carriages, and hBD-2,3 expressions. RESULTS: In the first year of ART, CD4+ T cell counts increased significantly. However, oral Candida carriages and oral candidiasis decreased significantly, and salivary hBD-2 expressions in HIV/AIDS patients decreased gradually, salivary hBD-3 levels were highly variable. Salivary hBD-2 concentrations were positively related to oral Candida carriages. CONCLUSIONS: The incidence of oral candidiasis among HIV/AIDS patients gradually decreased due to the immune reconstruction of ART. Salivary defensins might play an important role in Candida-host interaction in HIV/AIDS patients.


Assuntos
Infecções Oportunistas Relacionadas com a AIDS/metabolismo , Candidíase Bucal/metabolismo , Portador Sadio/metabolismo , Saliva/metabolismo , beta-Defensinas/metabolismo , Infecções Oportunistas Relacionadas com a AIDS/tratamento farmacológico , Adulto , Antirretrovirais/uso terapêutico , Contagem de Linfócito CD4 , Candidíase Bucal/microbiologia , Portador Sadio/microbiologia , China , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos
15.
Int J Obes (Lond) ; 42(3): 384-390, 2018 03.
Artigo em Inglês | MEDLINE | ID: mdl-29381148

RESUMO

OBJECTIVE: Body mass index (BMI) is commonly used to assess obesity, which is associated with numerous diseases and negative health outcomes. BMI has been shown to be a heritable, polygenic trait, with close to 100 loci previously identified and replicated in multiple populations. We aim to replicate known BMI loci and identify novel associations in a trans-ethnic study population. SUBJECTS: Using eligible participants from the Population Architecture using Genomics and Epidemiology consortium, we conducted a trans-ethnic meta-analysis of 102 514 African Americans, Hispanics, Asian/Native Hawaiian, Native Americans and European Americans. Participants were genotyped on over 200 000 SNPs on the Illumina Metabochip custom array, or imputed into the 1000 Genomes Project (Phase I). Linear regression of the natural log of BMI, adjusting for age, sex, study site (if applicable), and ancestry principal components, was conducted for each race/ethnicity within each study cohort. Race/ethnicity-specific, and combined meta-analyses used fixed-effects models. RESULTS: We replicated 15 of 21 BMI loci included on the Metabochip, and identified two novel BMI loci at 1q41 (rs2820436) and 2q31.1 (rs10930502) at the Metabochip-wide significance threshold (P<2.5 × 10-7). Bioinformatic functional investigation of SNPs at these loci suggests a possible impact on pathways that regulate metabolism and adipose tissue. CONCLUSION: Conducting studies in genetically diverse populations continues to be a valuable strategy for replicating known loci and uncovering novel BMI associations.


Assuntos
Índice de Massa Corporal , Grupos de Populações Continentais/genética , Grupos de Populações Continentais/estatística & dados numéricos , Estudo de Associação Genômica Ampla , Genômica , Humanos , Polimorfismo de Nucleotídeo Único/genética
16.
Mol Psychiatry ; 23(6): 1496-1505, 2018 06.
Artigo em Inglês | MEDLINE | ID: mdl-28485403

RESUMO

Genetic variations and adverse environmental events in utero or shortly after birth can lead to abnormal brain development and increased risk of schizophrenia. γ-Aminobutyric acid (GABA), the major inhibitory neurotransmitter in the mammalian brain, plays a vital role in normal brain development. GABA synthesis is controlled by enzymes derived from two glutamic acid decarboxylase (GAD) genes, GAD1 and GAD2, both of which produce transcript isoforms. While the full-length GAD1 transcript (GAD67) has been implicated in the neuropathology of schizophrenia, the transcript structure of GAD1 in the human brain has not been fully characterized. In this study, with the use of RNA sequencing and PCR technologies, we report the discovery of 10 novel transcripts of GAD1 in the human brain. Expression levels of four novel GAD1 transcripts (8A, 8B, I80 and I86) showed a lifespan trajectory expression pattern that is anticorrelated with the expression of the full-length GAD1 transcript. In addition, methylation levels of two CpG loci within the putative GAD1 promoter were significantly associated with the schizophrenia-risk SNP rs3749034 and with the expression of GAD25 in dorsolateral prefrontal cortex (DLPFC). Moreover, schizophrenia patients who had completed suicide and/or were positive for nicotine exposure had significantly higher full-length GAD1 expression in the DLPFC. Alternative splicing of GAD1 and epigenetic state appear to play roles in the developmental profile of GAD1 expression and may contribute to GABA dysfunction in the PFC and hippocampus of patients with schizophrenia.


Assuntos
Glutamato Descarboxilase/genética , Esquizofrenia/genética , Adolescente , Adulto , Processamento Alternativo/genética , Autopsia , Encéfalo/metabolismo , Criança , Pré-Escolar , Metilação de DNA/genética , Feminino , Expressão Gênica/genética , Variação Genética/genética , Glutamato Descarboxilase/metabolismo , Hipocampo/metabolismo , Humanos , Recém-Nascido , Masculino , Córtex Pré-Frontal/metabolismo , Regiões Promotoras Genéticas/genética , Isoformas de RNA/genética , RNA Mensageiro/metabolismo , Esquizofrenia/metabolismo
17.
Mol Psychiatry ; 23(3): 767-776, 2018 03.
Artigo em Inglês | MEDLINE | ID: mdl-28696436

RESUMO

Transient receptor potential canonical 6 (TRPC6) inhibits ß-amyloid (Aß) production. Hyperforin, the TRPC6 agonist, reduces Aß levels and improves cognitive performance in Alzheimer's disease (AD) models. However, it's unknown whether TRPC6 expression is changed in AD patients. In this case-control study, we measured TRPC6 expression levels in the peripheral blood cells of four independent AD sets from five hospitals and one mild cognitive impairment (MCI) set from a local community (229 AD, 70 MCI, 40 Parkinson disease and 359 controls from China, total n=698) using quantitative real-time PCR assay. We found a specific reduction of TRPC6 mRNA levels in four AD sets and one MCI set. The median TRPC6 mRNA levels were lower in the following: (1) combined AD patients than in age-matched controls (0.78 vs 1.73, P<0.001); (2) mild-to-moderate AD patients than in age-matched controls (0.81 vs 1.73, P<0.001); and (3) MCI patients than in age-matched controls (0.76 vs 1.72, P<0.001). In the receiver-operating characteristic curve analysis, the area under curve was 0.85 for combined AD, 0.84 for mild-to-moderate AD and 0.79 for MCI. In a subgroup of AD patients with brain Aß examination, TRPC6 was associated with standardized uptake value ratio of Pittsburgh Compound B (Spearman's r=-0.49, P=0.04) and cerebrospinal fluid Aß42 (Spearman's r=0.43, P=0.04). The TRPC6 reduction in AD patients was further confirmed in blood RNA samples from The Australian Imaging, Biomarkers and Lifestyle Flagship Study of Aging, in post-mortem brain tissues from The Netherlands Brain Bank and in induced pluripotent stem cells-derived neurons from Chinese donors. We conclude that TRPC6 mRNA levels in the blood cells are specifically reduced in AD and MCI patients, and TRPC6 might be a biomarker for the early diagnosis of AD.


Assuntos
Doença de Alzheimer/genética , Disfunção Cognitiva/genética , RNA Mensageiro/sangue , Canal de Cátion TRPC6/genética , Idoso , Doença de Alzheimer/sangue , Doença de Alzheimer/metabolismo , Animais , Biomarcadores/sangue , Estudos de Casos e Controles , Disfunção Cognitiva/diagnóstico , Disfunção Cognitiva/metabolismo , Feminino , Células HEK293 , Humanos , Células Jurkat , Masculino , Camundongos , Pessoa de Meia-Idade , RNA Mensageiro/genética , Canal de Cátion TRPC6/sangue , Canal de Cátion TRPC6/metabolismo , Proteínas tau
18.
Zhonghua Yu Fang Yi Xue Za Zhi ; 51(12): 1069-1073, 2017 Dec 06.
Artigo em Chinês | MEDLINE | ID: mdl-29262486

RESUMO

Objective: To investigate the effect of elective cesarean section (ECS) on infants' developmental behaviors. Methods: A total of 3 474 pregnant women living in Ma'anshan more than 6 months and accepting obstetric examination in Ma'anshan Maternal and Child Care Center were recruited from May 2013 to September 2014. Excluding participants with pregnancy termination (162), twin pregnancy (39), assisted delivery (14), emergency cesarean section (76) and unclear delivery mode (141), 3 042 pair of mother and infant entered the final analysis. Information of maternal basic demographic characteristics, pregnancy histories, pregnancy life style and pregnancy-related diseases were collected by using self-complied Maternal and Child Health Questionnaire. Information of infants' general condition and delivery modes were acquired from obstetric record. The Ages and Stages Questionnaires-third edition was used to assess infants' communication, gross motor, fine motor, problem solving and person-social function, which was completed at age of 6 months old and 18 months old, respectively. And multi-factor non-conditional logistic regression model was used to analyze the association between ECS and infants' developmental behaviors. Results: The prevalence of ECS was 47.5% (1 443/3 042), among which ECS without medical indication and ECS with medical indication were 27.2% (826/3 042) and 20.3% (617/3 042), respectively. After maternal demographic characteristics, pregnant exposure and infants' basic information adjusted, compared to women with vaginal delivery, both ECS with medical indication and without medical indication increased the risk of a delay in gross motor on infants at 6 months old (RR (95%CI: 1.72 (1.08-2.77) and 1.87 (1.11-3.15), respectively.) ECS without indication decreased the risk of a delay in fine motor on infants at 6 months old (RR (95%CI):0.48 (0.28-0.82)), both ECS without medical indication and with medical indication had no statistically significant effect on 18 months infants' communication, gross motor, fine motor, problem solving and person-social function, the RR (95%CI) for ECS without medical indication were 0.86 (0.43-1.74), 1.55 (0.86-2.78), 0.74 (0.49-1.15), 1.10 (0.68-1.78) and 1.17 (0.66-2.08), respectively; and the RR (95%CI) for ECS with medical indication were 0.33 (0.12-1.02), 1.10 (0.55-2.21), 0.79 (0.48-1.29), 0.58 (0.29-1.13) and 1.48 (0.78-2.81), respectively. Conclusion: ECS affected motor development in infants at the age of 6 months old, and no influence was found in infants at the age of 18 months old.


Assuntos
Cesárea , Desenvolvimento Infantil , Comportamento do Lactente , Estudos de Coortes , Parto Obstétrico , Características da Família , Feminino , Humanos , Lactente , Modelos Logísticos , Masculino , Mães , Gravidez
19.
Zhonghua Xue Ye Xue Za Zhi ; 38(11): 945-950, 2017 Nov 14.
Artigo em Chinês | MEDLINE | ID: mdl-29224317

RESUMO

Objective: To investigate the pathogen spectrum distribution and drug resistance of febrile neutropenic patients with hematological diseases in Shanghai. Methods: A retrospective study was conducted on the clinical isolates from the febrile neutropenic patients hospitalized in the departments of hematology in 12 general hospitals in Shanghai from January 2012 to December 2014. The drug susceptibility test was carried out by Kirby-Bauer method. WHONET 5.6 software was used to analyze pathogenic bacteria and drug susceptibility data. Results: A total of 1 260 clinical isolates were collected from the febrile neutropenic patients. Gram-positive bacteria accounted for 33.3% and Gram-negative bacteria accounted for 66.7%. Klebsiella pneumoniae (12.5%) , Stenotrophomonas maltophilia (9.5%) , Escherichia coli (9.1%) , Pseudomonas aeruginosa (8.7%) , Acinetobacter baumannii (6.6%) , Staphylococcus aureus (5.6%) and Enterococcus faecium (5.0%) were ranked in the first 7 of all pathogens. In the respiratory tract secretions specimens, non-fermented strains accounted for 56.2%. Stenotrophomonas maltophilia accounted for 15.2%. Enterobacteriaceae and coagulase-negative Staphylococci accounted for 42.3% (104/246) and 32.6% (85/246) respectively in blood samples. Enterobacteriaceae and Enterococcus bacteria accounted for 39.4% (76/193) and 28.5% (55/193) respectively in pus specimens. The detection rates of methicillin resistant Staphylococcus aureus (MRSA) and methicillin resistant coagulase negative Staphylococci (MRCNS) were 54.3% and 82.5%, respectively. Staphylococcus bacterial strain was not found to be resistant to linezolid, vancomycin and teicoplanin. The detection rate of Enterococcus vancomycin-resistant strains was 8.9%. Enterococcus was not detected resistance to oxazolidinone strains. Enterobacteriaceae bacteria were highly sensitive to carbapenems. The resistance rate of Pseudomonas aeruginosa to imipenem and meropenem was 34.1% and 15.8%, respectively. Stenotrophomonas maltophilia was more sensitive to minocycline hydrochloride, levofloxacin and sulfamethoxazole. The resistance rate of Acinetobacter baumannii only to cefoperazone-sulbactam was less than 10.0%. The antibiotic resistance rate of Klebsiella pneumoniae, Stenotrophomonas maltophilia, Pseudomonas aeruginosa and Acinetobacter baumanii to most of common antibiotics was lower than that of the CHINET surveillance. Conclusions: The pathogenic strain distribution in common infection sites of febrile neutropenic patients was characterized. Bacterial resistance surveillance was better than the CHINET nationwide large sample surveillance in China.


Assuntos
Doenças Hematológicas , Antibacterianos , Bactérias , China , Farmacorresistência Bacteriana , Humanos , Testes de Sensibilidade Microbiana , Estudos Retrospectivos
20.
Zhonghua Liu Xing Bing Xue Za Zhi ; 38(11): 1454-1459, 2017 Nov 10.
Artigo em Chinês | MEDLINE | ID: mdl-29141328

RESUMO

Objective: To explore the association of smoking and smoking cessation with glycemic control in male patients with type 2 diabetes. Methods: From December 2013 to January 2014, a total of 7 763 male patients with type 2 diabetes, who received national basic public health service in Changshu county of Suzhou city, Huai'an and Qinghe districts of Huai'an city, Jiangsu province, were recruited by cluster sampling. Questionnaire survey and anthropometric measurements were conducted, and fasting plasma glucose (FPG) and hemoglobin A1c (HbA1c) levels were measured. Multiple linear regression model was used to evaluate the association of smoking and smoking cessation with glycemic control. Results: The prevalence of current smoking was 45.5% in male patients with type 2 diabetes. The levels of FPG and HbA1c increased with number of cigarettes smoked per day compared with non-smokers (P<0.001). Among patients with drug treatment, the average increase of HbA1c level in current smokers with smoking duration ≥30 years and smoking index ≥40 pack-years were 0.27% (95%CI: 0.05%-0.49%) and 0.38% (95%CI: 0.23%-0.53%), respectively. FPG and HbA1c level decreased obviously with smoking cessation years among former smokers (P<0.05). Among the patients receiving no drug treatment, no dose-response relationships were observed between smoking duration, smoking cessation years and levels of FPG and HbA1c. Conclusion: Cigarette smoking was negatively related with glycemic control in male type 2 diabetes patients, especially in patients with drug treatment. Smoking cessation may be beneficial for glycemic control. Smoking cessation should be encouraged for diabetes patients as early as possible.


Assuntos
Glicemia/metabolismo , Diabetes Mellitus Tipo 2/epidemiologia , Hemoglobina A Glicada/metabolismo , Abandono do Hábito de Fumar , Fumar/efeitos adversos , Adulto , Grupo com Ancestrais do Continente Asiático , China/epidemiologia , Humanos , Masculino , Pessoa de Meia-Idade , Análise Multivariada , Prevalência , Fatores Sexuais , Fumar/epidemiologia , Inquéritos e Questionários
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