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1.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wpr-965847

RESUMO

ObjectiveTo investigate the prevention strategy of bilateral vocal cord adhesion after simultaneous Renke space edema resection under CO2 laser. MethodsSeventy patients who underwent CO2 laser resection of bilateral Renke space edema of vocal cords from June 2018 to June 2021 in our hospital were retrospectively selected for this study. According to their postoperative vocal cord adhesion, patients were divided into vocal cord adhesion group (35 cases) and silent band adhesion group (35 cases), and the general data of the two groups were compared. Multivariate logistic regression analysis was used to evaluate the risk factors for postoperative vocal cord adhesion. The prediction model of postoperative morbidity risk of vocal cord adhesion was established by using chisquared automatic interaction detection (CHAID) classification tree algorithm, and the application value of the model was evaluated by benefit graph and index graph. ResultsMultivariate analysis showed that surgical range and depth of Ⅱ, laser power≥5 W and anterior connection involvement were the risk factors for postoperative vocal cord adhesion [OR 95%CI: 6.113 (2.346, 17.451); 5.214 (1.469, 15.263); 18.651 (1.689, 36.203)]. The classification tree model showed that anterior articulation involvement was an important predictor of postoperative vocal cord adhesion (76.92%; χ2=11.993, P=0.001), and the benefit graph and index graph showed good models. ConclusionClinical attention should be paid to surgical scope and depth, laser power and anterior union involvement, and timely prevention strategies should be formulated to reduce the risk of vocal cord adhesion in patients.

2.
Chinese Journal of Stomatology ; (12): 345-353, 2023.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wpr-986076

RESUMO

Objective: To investigate the mechanism of VPS26 effect on osteogenesis and adipogenesis differentiation of rat bone marrow mesenchymal stem cells (BMSC) in high fat environment, and to explore the effect of VPS26 on implants osseointegration of high fat rats and ectopic osteogenesis in nude mice. Methods: BMSC were cultured under normal osteogenic induction (osteogenic group) and high-fat osteogenic induction (high-fat group).High-fat group was transfected with VPS26 enhancer and inhibitor, and the expression levels of osteogenesis related genes and adipogenesis related genes were examined. Osteogenesis and adipogenesis of BMSC were detected by alkaline phosphatase (ALP) staining and oil red O staining after 7 and 14 days of induction.In osteogenic group,the binding of VPS26 to β-catenin was detected by immunofluorescence staining and immunoprecipitation, and dual luciferase reporter assay (TOP Flash) was used to analyze the TOP/FOP ratio. Eighteen male 12-week hyperlipidemic Wista rats (160-200 g) were implanted with implants, and six in each group were injected with VPS26 overexpression lentivirus (LV-VPS26 group), negative control lentivirus (LV-nc group) and saline (blank control group).Micro-CT analysis , HE and oil red O staining were used to evaluate the osseointegration of the implants and lipid droplets formation of the femur samples. Twenty female 6-week nude mice (30-40 g) were divided into five groups and subcutaneously implanted with osteogenic BMSC non-transfected and transfected LV-VPS26, LV-nc, shVPS26, and shscr lentivirus on the back. Samples were used to observe ectopic osteogenesis. Results: The mRNA expression levels of ALP in the high-fat group BMSC after overexpression of VPS26 (1.56±0.09) were significantly higher than those of the negative control (1.01±0.03) (t=10.09, P<0.001), while those of peroxisome proliferator-activated receptor-γ (PPAR-γ) (t=6.44, P<0.001) and fatty acid-binding protein4 (FABP4) (t=10.01, P<0.001) were lower than those of the negative control. Western blotting results showed that compared with the negative control, protein expression of ALP and Runt-related transcription gene 2 was enhanced in the high-fat group BMSC after overexpression of VPS26 while PPAR-γ and FABP4 were inhibited. ALP activity of BMSC in the high-fat group was stronger after overexpression of VPS26, and the formation of lipid droplets was weaker than that in negative control. The results of immunofluorescence, immunoprecipitation and dual luciferase reporter assays showed co-localization and interaction of VPS26 with β-catenin and a significant 43.10% increase in the TOP/FOP ratio (t=-3.17, P=0.034). VPS26 overexpression enhanced osseointegration and decreased the number of lipid droplets in high-fat rat and enhanced ectopic osteogenesis of nude mice. Conclusions: VPS26 activated osteogenesis differentiation and inhibited adipogenic differentiation of BMSCs through Wnt/β-catenin pathway, promoting osseointegration of high-fat rat implants and ectopic osteogenesis of nude mice.

3.
Int J Neurosci ; 130(1): 19-27, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-29985089

RESUMO

Objective: To evaluate the efficacy of repetitive transcranial magnetic stimulation for Parkinson disease (PD) patients with depression.Methods: A meta-analysis was performed using relevant randomized controlled trials (RCTs) from online databases such as PubMed, Embase, Cochrane Online Library, and Clinicaltrials.gov. Studies were selected according to pre-defined inclusion and exclusion criteria, and the quality of the studies was evaluated using the Jadad Scale. All data were pooled by RevMan 5.2 software for meta-analysis.Results: The review covered 528 articles, and 7 articles with Jadad score ≥4 were included in the analysis. The meta-analysis showed that, compared to sham repetitive transcranial magnetic stimulation (sham-rTMS), repetitive transcranial magnetic stimulation (rTMS) over dorsolateral prefrontal cortex (DLPFC) improved depression, but that there was no significant difference in depression improvement between rTMS and selective serotonin reuptake inhibitor (SSRI) treatment. In contrast, rTMS over DLPFC did not improve motor function compared to sham-rTMS or SSRI, and the studies that included neurocognitive measures showed no significant difference between rTMS and sham-rTMS.Conclusion: This meta-analysis provides evidence that rTMS over DLPFC can improve depression similar to SSRI treatment, has no effect on the motor function and cognition of PD patients with depression.


Assuntos
Depressão/terapia , Doença de Parkinson/terapia , Estimulação Magnética Transcraniana , Depressão/complicações , Depressão/tratamento farmacológico , Humanos , Doença de Parkinson/complicações , Doença de Parkinson/tratamento farmacológico , Córtex Pré-Frontal/fisiologia , Inibidores Seletivos de Recaptação de Serotonina/uso terapêutico , Resultado do Tratamento
4.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wpr-827093

RESUMO

OBJECTIVE@#To investigate the effects of Da-Cheng-Qi Decoction (DCQD, ) combined with Lactobacillus acidophilus (LA) on the recovery of gastrointestinal (GI) function in traumatic brain-injured (TBI) mice.@*METHODS@#A total of 150 male C57BL/6 mice were randomly divided into sham-injury, normal saline (NS), DCQD (0.4 mL/day), LA (⩾1 × 10 cfu/day LA), DCQD+LA (LA administration at the same dosage after 4 h of feeding DCQD), and ½ DCQD+LA groups (LA administration at the same dosage after 4 h of feeding ½ DCQD dose) by a random number table, 5-8 mice in each group. The sever TBI model was constructed according to Feeney's enhanced gravitational forces of free falling. On days 1, 3, and 7 post-TBI, plasma diamine oxidase (DAO) and D-lactic acid levels were assessed by enzyme-linked immunosorbent assay (ELISA). Occludin expression in the intestinal epithelium was assessed by Western blot analysis. Transmission electron microscopy (TEM) was used to observe the morphological changes in the network structure of interstitial cells of Cajal (ICC) and change of enteric nervous system-ICC-smooth muscle cell (ENS-ICC-SMC). Immunofluorescence staining was used to detect changes in the network structure of the ICC.@*RESULTS@#Compared with the NS group, occludin expression in the DCQD+LA group significantly increased on Day 1, 3, and 7 post-TBI (P<0.05 or P<0.01). The concentration of DAO significantly decreased in the LA, DCQD, and DCQD+LA groups on Day 3 and 7, whilst the D-lactate concentrations in the LA and ½ DCQD+LA groups decreased on Day 1 and 3 post-injury (P<0.05 or P<0.01). The NS group experienced a great damage on the ENS-ICC-SMC network morphology and ICC network structure, and all treatment groups had some improvements, among which the DCQD+LA group presented relatively intact network morphology.@*CONCLUSIONS@#DCQD combined with LA treatment could effectively repair the intestinal mucosal barrier and improve GI motility in mice after TBI. The combination of DCQD and LA was more effective than their respective monotherapies.

5.
Medicine (Baltimore) ; 98(30): e16402, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-31348240

RESUMO

BACKGROUND: Drug resistant epilepsy (DRE) is very common among children and adults and studies had found some related risk factors for DRE, while the results were not consistent. The aim of this study was to identify risk factors for drug-resistant epilepsy. METHODS: Three electronic databases (Medline, Embase and Cochrane library) were searched to identify studies with a cohort design reporting on epidemiologic evidence regarding risk factors for DRE. RESULTS: The pooled prevalence of DRE in newly diagnosed epilepsy patients was 25% (95% CI 17-32%). Abnormal electroencephalography (EEG) (both slow wave and epileptiform discharges) (RR 2.80; 95% CI 1.95-4.0), status epilepticus (SE) (RR 11.60; 95% CI 7.39-18.22), symptomatic etiology (RR 3.36; 95% CI 2.53-4.46), multiple seizure types (RR 3.66; 95% CI 2.37-5.64) and febrile seizures (RR 3.43; 95% CI 1.95-6.02) were identified as strong risk factors for DRE. In addition, firm conclusions cannot be drawn for poor short-term outcomes of therapy, neurodevelopment delay and high initial seizure frequency for the heterogeneity of study results. The predictive effect of focus onset seizure was not stable after removing one study and switching the effect model. Age of onset was not risk factors for DRE. CONCLUSIONS: The current meta-analysis identified potential risk factors for DRE. The results may contribute to better prevention strategies and treatments for DRE.


Assuntos
Epilepsia Resistente a Medicamentos/epidemiologia , Idade de Início , Epilepsia Resistente a Medicamentos/classificação , Eletroencefalografia , Epilepsias Parciais/epidemiologia , Epilepsia Generalizada/epidemiologia , Humanos , Transtornos do Neurodesenvolvimento/epidemiologia , Fatores de Risco , Estado Epiléptico/epidemiologia , Fatores de Tempo
6.
Chinese Medical Journal ; (24): 1673-1680, 2019.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wpr-802625

RESUMO

Background@#Structured reports are not widely used and thus most reports exist in the form of free text. The process of data extraction by experts is time-consuming and error-prone, whereas data extraction by natural language processing (NLP) is a potential solution that could improve diagnosis efficiency and accuracy. The purpose of this study was to evaluate an NLP program that determines American College of Radiology Breast Imaging Reporting and Data System (BI-RADS) descriptors and final assessment categories from breast magnetic resonance imaging (MRI) reports.@*Methods@#This cross-sectional study involved 2330 breast MRI reports in the electronic medical record from 2009 to 2017. We used 1635 reports for the creation of a revised BI-RADS MRI lexicon and synonyms lists as well as the iterative development of an NLP system. The remaining 695 reports that were not used for developing the system were used as an independent test set for the final evaluation of the NLP system. The recall and precision of an NLP algorithm to detect the revised BI-RADS MRI descriptors and BI-RADS categories from the free-text reports were evaluated against a standard reference of manual human review.@*Results@#There was a high level of agreement between two manual reviewers, with a κ value of 0.95. For all breast imaging reports, the NLP algorithm demonstrated a recall of 78.5% and a precision of 86.1% for correct identification of the revised BI-RADS MRI descriptors and the BI-RADS categories. NLP generated the total results in <1 s, whereas the manual reviewers averaged 3.38 and 3.23 min per report, respectively.@*Conclusions@#The NLP algorithm demonstrates high recall and precision for information extraction from free-text reports. This approach will help to narrow the gap between unstructured report text and structured data, which is needed in decision support and other applications.

7.
Chinese Medical Journal ; (24): 1673-1680, 2019.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wpr-771181

RESUMO

BACKGROUND@#Structured reports are not widely used and thus most reports exist in the form of free text. The process of data extraction by experts is time-consuming and error-prone, whereas data extraction by natural language processing (NLP) is a potential solution that could improve diagnosis efficiency and accuracy. The purpose of this study was to evaluate an NLP program that determines American College of Radiology Breast Imaging Reporting and Data System (BI-RADS) descriptors and final assessment categories from breast magnetic resonance imaging (MRI) reports.@*METHODS@#This cross-sectional study involved 2330 breast MRI reports in the electronic medical record from 2009 to 2017. We used 1635 reports for the creation of a revised BI-RADS MRI lexicon and synonyms lists as well as the iterative development of an NLP system. The remaining 695 reports that were not used for developing the system were used as an independent test set for the final evaluation of the NLP system. The recall and precision of an NLP algorithm to detect the revised BI-RADS MRI descriptors and BI-RADS categories from the free-text reports were evaluated against a standard reference of manual human review.@*RESULTS@#There was a high level of agreement between two manual reviewers, with a κ value of 0.95. For all breast imaging reports, the NLP algorithm demonstrated a recall of 78.5% and a precision of 86.1% for correct identification of the revised BI-RADS MRI descriptors and the BI-RADS categories. NLP generated the total results in <1 s, whereas the manual reviewers averaged 3.38 and 3.23 min per report, respectively.@*CONCLUSIONS@#The NLP algorithm demonstrates high recall and precision for information extraction from free-text reports. This approach will help to narrow the gap between unstructured report text and structured data, which is needed in decision support and other applications.

8.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wpr-843483

RESUMO

Objective • To explore the effect of cerebellar vermal repetitive transcranial magnetic stimulation (rTMS) with theta burst stimulation (TBS) paradigm on cognitive functions of patients with schizophrenia. Methods • Thirty-one schizophrenia patients were randomly assigned into study group (n=14) and control group (n=17). Patients in the study group received a combination of rTMS and drug therapy, and patients in the control group received a combination of sham rTMS and drug therapy. The intervention lasted for 2 weeks, a total of 10 times. To evaluate the effect of rTMS on cognitive functions, MATRICS consensus cognitive battery (MCCB) was used to assess at baseline, after the intervention, 12 weeks and 24 weeks after the end of the intervention. Results • At baseline, there were no significant differences between two groups in the scores of each factor and the overall composite scores (P>0.05). After the intervention, repeated measures analysis of variance showed that the main effect of time was statistically significant in the scores of social cognitive (F=3.901, P0.05). Moreover, in the scores of speed of processing, attention/vigilance, working memory, verbal learning, visual learning, reasoning and problem solving and the overall composite scores, the main effect of group/time and the interaction between time and group were not significant (P>0.05). Conclusion • Application of TBS rTMS to cerebellar vermal is not superior compared with sham rTMS in improving the above seven cognitive domains.

9.
Epilepsy Res ; 139: 60-72, 2018 01.
Artigo em Inglês | MEDLINE | ID: mdl-29197667

RESUMO

PURPOSE: Eslicarbazepine (ESL), Lacosamide (LAC), Perampanel (PER) and Brivaracetam (BRV), have recently been marketed as third-generation antiepileptic drugs (AEDs). We conducted a meta-analysis to indirectly compare overall efficacy and tolerability between third-generation AEDs in uncontrolled focal epilepsy. METHODS: We performed an online database search using Pubmed, Embase, Cochrane Online Library, and Clinicaltrial.gov for all available randomized controlled trials (RCTs) that investigated the therapeutic effects over a range of AED doses versus placebo. We then compared clinical efficacy and tolerability between these newer AEDs using Indirect Treatment Comparison software. RESULTS: Nineteen RCTs with a total of 7245 patients were included in our study. There were no significant differences in the risk difference of 50% responder rates and seizure free rates between third generation AEDs, regardless of dose. The risk of treatment emergent adverse events was significantly higher with ESL and PER treatment compared to BRV at all doses combined. Withdrawal rates due to adverse events were also significantly higher in patients treated with the highest doses of LAC and PER versus BRV, while treatment with ESL or LAC was related to higher withdrawal rates versus BRV when all doses were combined. CONCLUSIONS: Our analysis suggested there were no significant differences in efficacy between third generation AEDs in uncontrolled focal epilepsy. BRV may have the best tolerability profile. The other AEDs were associated with a higher risk for intolerable adverse, especially when taken at a high doses. The results from these indirect comparisons warrant further examination and verification through future well-designed trials.


Assuntos
Anticonvulsivantes/uso terapêutico , Dibenzazepinas/uso terapêutico , Epilepsias Parciais/tratamento farmacológico , Lacosamida/uso terapêutico , Piridonas/uso terapêutico , Pirrolidinonas/uso terapêutico , Anticonvulsivantes/efeitos adversos , Dibenzazepinas/efeitos adversos , Humanos , Lacosamida/efeitos adversos , Nitrilas , Piridonas/efeitos adversos , Pirrolidinonas/efeitos adversos , Ensaios Clínicos Controlados Aleatórios como Assunto
10.
Neurol Sci ; 38(10): 1741-1746, 2017 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-28685189

RESUMO

Mesencephalic astrocyte-derived neurotrophic factor (MANF) is a member of the novel evolutionary conserved neurotrophic factor (NTF) family. MANF has a unique structure and an unparalleled dual mode of action that differs from other known NTFs. Recent studies have shown that MANF protects cells from endoplasmic reticulum stress. In addition, an increasing number of studies have found MANF plays an important role in nervous system disease. This review focuses on MANF, summarizing its unique structure, potential signaling pathway, and role in neurological disease.


Assuntos
Fatores de Crescimento Neural/metabolismo , Doenças do Sistema Nervoso/metabolismo , Animais , Humanos , Fatores de Crescimento Neural/química , Transdução de Sinais
11.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wpr-297204

RESUMO

<p><b>OBJECTIVE</b>To investigate the association between the genetic polymorphism of IL-6 C-572G and susceptibility to spontaneous preterm birth (SPTB).</p><p><b>METHODS</b>The subjects were from Beijing and the surrounding areas of Beijing. This case-control study enrolled 569 SPTB infants, including 56 extremely preterm (<28 weeks of gestation), 166 very preterm (28-31weeks of gestation) and 347 moderate to late preterm infants (32 to 36weeks of gestation). A total of 673 term infants were enrolled as the control group. The latest Sequenom MassARRAY®SNP detection technique was used for the typing of single nucleotide polymorphism of IL-6 C-572G.</p><p><b>RESULTS</b>Compared with the CC genotypes, the IL-6 C-572G G-positive genotype (CG+GG genotype) was significantly associated with an increased susceptibility to moderate to late SPTB (OR=1.35, 95%CI: 1.01-1.80, P=0.04).</p><p><b>CONCLUSIONS</b>Among the Chinese population, IL-6 C-572G polymorphism is associated with susceptibility to moderate to late SPTB.</p>


Assuntos
Feminino , Humanos , Recém-Nascido , Gravidez , Estudos de Casos e Controles , Predisposição Genética para Doença , Genótipo , Interleucina-6 , Genética , Polimorfismo de Nucleotídeo Único , Nascimento Prematuro , Genética
12.
Acta Pharmaceutica Sinica ; (12): 455-2016.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wpr-779192

RESUMO

To investigate the effect that folic acid-modified polyrotaxanes (FPP) transfered siRNA CD47 to inhibit melanoma proliferation, the expression of CD47 in clinical melanoma patients was tested by Western blot and RT-PCR, respectively. Physical performance of FPP (siRNA-CD47:CD47) nanoparticles was tested by Malvern particle size instrument and scanning electron microscope. The clone formation experiment demonstrated that FPP (CD47) nanoparticles inhibited the growth of clones. Invasion assay revealed that FPP (CD47) inhibited migration of B16F10 cells. Tumor bearing mice were used in the experiment to test the efficacy of FPP (CD47) treatment. Compared with the control group, high expression of CD47 was observed in the clinical melanoma patients. FPP (CD47) nanoparticle size at 80 nm exhibited a potential of 10 mV; compared with FPP (Con), fluorescence intensity was significantly reduced to 4.2% and B16F10 cell clone formation was decreased by 91% in the FPP (CD47) treatment. Tumor volume of tumor-burdened mice was decreased by 90% with FPP (CD47) treatment. FPP (CD47) lowered CD47 protein and mRNA expression in the tumor. This study suggests that FPP may transfer siRNA CD47 into the cancer cells to inhibit melanoma growth effectively.

13.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wpr-340554

RESUMO

<p><b>OBJECTIVE</b>To study the association between interleukin-1β (IL-1β) C+3953T and genetic susceptibility to spontaneous preterm birth (SPTB).</p><p><b>METHODS</b>In this case-control study, 753 SPTB neonates were enrolled in the case group and 681 full-term neonates were enrolled in the control group. The latest Sequenom MassARRAY®SNP detection technique was used for the typing of single nucleotide polymorphisms (SNP) of IL-1β C+3953T.</p><p><b>RESULTS</b>Compared with those carrying CC genotype of IL-1β C+3953T, the neonates who carried at least one T allele (CT+TT genotype) had significantly increased risks of SPTB, SPTB complicated by premature rupture of membranes, and mild preterm birth.</p><p><b>CONCLUSIONS</b>In the Chinese population, IL-1β C+3953T has significant genetic association with an increased risk of SPTB. The identification of this SNP helps to prevent SPTB and clarify the causes and pathogenesis of SPTB.</p>


Assuntos
Feminino , Humanos , Recém-Nascido , Masculino , Estudos de Casos e Controles , Predisposição Genética para Doença , Interleucina-1beta , Genética , Polimorfismo de Nucleotídeo Único , Nascimento Prematuro , Genética
14.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wpr-340531

RESUMO

<p><b>OBJECTIVE</b>To study the association between tumor necrosis factor-α (TNF-α) G-308A polymorphisms and genetic susceptibility to spontaneous preterm birth (SPTB).</p><p><b>METHODS</b>The case group enrolled 753 SPTB infants and the control group included 681 term infants. TNF-α G-308A polymorphisms were genotyped using Sequenom MassARRAY®SNP.</p><p><b>RESULTS</b>The frequencies of the allele (G and A) in the case and control groups were not significantly different (P=0.35). The frequencies of the genotypes (GG, GA and AA) in the case and control groups were not significantly different (P=0.64). The logistic regression analysis found that TNF-α G-308A was not associated with genetic susceptibility to SPTB (OR=0.85; 95%CI: 0.61-1.19; P=0.35).</p><p><b>CONCLUSIONS</b>There is no association between the polymorphisms of TNF-α G-308A and the genetic susceptibility to SPTB.</p>


Assuntos
Feminino , Humanos , Recém-Nascido , Masculino , Predisposição Genética para Doença , Genótipo , Polimorfismo de Nucleotídeo Único , Nascimento Prematuro , Genética , Fator de Necrose Tumoral alfa , Genética
15.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wpr-346146

RESUMO

The clinical data of a patient with megalencephalic leukoencephalopathy (MLC) with subcortical cysts and her parents were collected. MLC1 gene mutation was detected by polymerase chain reaction and direct DNA sequencing. The patient presented with motor developmental delay and giant skull, and brain magnetic resonance imaging showed diffuse white matter swelling accompanied by subcortical cysts in bilateral frontal and parietal lobes. Gene sequencing identified two heterozygous mutations of MLC1, including missense mutation in exon 3 (c.217G>A, p.Gly73Arg) and splice site mutation in intron 9 (c.772-1G>C in IVS9-1). The patient's parents both had heterozygous mutation c.772-1G>C in IVS9-1 with normal phenotype. It can be presumed that c.772-1G>C in IVS9-1 comes from the parents, and c.217G>A (p.Gly73Arg) is a de novo mutation.


Assuntos
Feminino , Humanos , Lactente , Povo Asiático , Genética , Cistos , Genética , Doenças Desmielinizantes Hereditárias do Sistema Nervoso Central , Genética , Proteínas de Membrana , Genética , Mutação
16.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wpr-279927

RESUMO

<p><b>OBJECTIVE</b>To detect subtelomeric copy number variations in children with genetic intellectual disability (ID) using multiplex ligation-dependent probe amplification (MLPA), and to investigate the pathogenesis of genetic ID.</p><p><b>METHODS</b>A total of 68 children with ID who had normal results of G-banding karyotype analysis were included in the study. Their subtelomeric copy number variations were detected using MLPA P036.</p><p><b>RESULTS</b>Among the 68 children with ID, 7(10%) showed subtelomeric copy number variations, and all the variations were deletion mutations. Among them, 1 case carried 2 subtelomeric microdeletions, and 1 case carried 4 subtelomeric microdeletions.</p><p><b>CONCLUSIONS</b>Subtelomeric copy number variations are important causes of genetic ID. MLPA can be used as an economic and effective method for investigating the pathogenesis of genetic ID.</p>


Assuntos
Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Variações do Número de Cópias de DNA , Deficiência Intelectual , Genética , Reação em Cadeia da Polimerase Multiplex , Telômero
17.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wpr-279029

RESUMO

<p><b>OBJECTIVE</b>To investigate the association between the genetic polymorphism of 2',5'-oligoadenylate synthetase 1 (OAS1) and susceptibility to spontaneous preterm birth (SPTB) and preterm premature rupture of membranes (PPROM).</p><p><b>METHODS</b>The case-control study consisted of 599 preterm infants including 171 cases of PPROM, and 673 full-term infants without maternal histories of SPTB and PPROM as controls. The single nucleotide polymorphism (SNP) at OAS1 intron 5, rs10774671, was analyzed by polymerase chain reaction-restriction fragment length polymorphism.</p><p><b>RESULTS</b>No significant differences were observed between the case and control groups in the frequencies of genotypes (AA, GA, and GG) and alleles (A and G) of OAS1 rs10774671. When the case group was divided into two subgroups with or without PPROM, no significant differences in the genotype and allele frequencies were found between each subgroup and the control group. When the case group was divided into three subgroups with different gestational ages at SPTB, no significant differences in the genotype and allele frequencies were detected between each subgroup and the control group.</p><p><b>CONCLUSIONS</b>No association is identified between OAS1 SNP and susceptibility to SPTB and PPROM.</p>


Assuntos
Adulto , Feminino , Humanos , Recém-Nascido , Masculino , 2',5'-Oligoadenilato Sintetase , Genética , Estudos de Casos e Controles , Ruptura Prematura de Membranas Fetais , Genética , Predisposição Genética para Doença , Polimorfismo de Nucleotídeo Único , Nascimento Prematuro , Genética
18.
International Eye Science ; (12): 95-97, 2015.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wpr-637004

RESUMO

Abstract? AlM: To evaluate macular thickness and macular volume changes in people with diabetes mellitus but no significant decrease of visual acuity.?METHODS:A total of 87 eyes were collected in diabetic group. According to the international stage of diabetic retinopathy, these cases were divided into two subgroups:DR0 stage 54 eyes and DR1 stage 33 eyes. All the cases were received optical coherence tomography (OCT) scan in macular area;the scanning model is 512× 128; recording macular average thickness and macular volume, and compared with healthy subjects.? RESULTS: Macular average thickness and macular volume were higher in DR1 group than those in DR0 stage and control group, and differences were having statistical significance. But DR0 group and control group differences of the two indexes were not statistically significant.? CONCLUSlON: With the aggravation of diabetic retinopathy, the macular thickness tends to be thicken. Although without obvious visual loss, there have been slight morphological changes. Using OCT scan can find fundus changes earlier in patients with diabetes mellitus, and provide clinical basis for both early diagnosis and treatment.

19.
Acta Pharmaceutica Sinica ; (12): 1164-1178, 2012.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wpr-274682

RESUMO

A variety of novel 2-(1-substituted-piperidine-4-ylamino)quinazoline derivatives were prepared and their antiproliferative activities on five cancer cell lines were evaluated by MTT assay. Quinazolines 4j-4l, 5a, 5b and 5d bearing a small hydrophobic alkyl group on piperidine ring exhibited potent antitumor activities with IC50 values at micromolar level. Compound 41 displayed significant in vivo antitumor activity with 72.9% inhibition on H22 tumor growth and 80% inhibition on Lewis lung cancer growth at a dose of 200 mg x kg(-1).


Assuntos
Animais , Masculino , Camundongos , Antineoplásicos , Química , Farmacologia , Carcinoma Pulmonar de Lewis , Patologia , Linhagem Celular Tumoral , Ensaios de Seleção de Medicamentos Antitumorais , Concentração Inibidora 50 , Neoplasias Hepáticas , Patologia , Camundongos Endogâmicos C57BL , Transplante de Neoplasias , Quinazolinas , Química , Farmacologia
20.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wpr-348990

RESUMO

<p><b>OBJECTIVE</b>To identify the single nucleotide polymorphisms (SNPs) of the alpha2-Heremans-Schmid glycoprotein (AHSG) gene and assess their association with the AHSG serum level.</p><p><b>METHODS</b>The SNPs of the AHSG gene were identified from 30 unrelated Han individuals from Guangzhou area by resequencing. Linkage disequilibrium(LD) was performed to observe the linkage disequilibrium pattern. Then tagSNPs were genotyped in 192 Han individuals from Beijing and 424 Han individuals from Guangzhou area. Finally, luciferase reporter gene assay was performed to determine whether the SNPs affected the promoter activity. Serum AHSG concentrations were measured in the 192 subjects from Beijing using ELISA.</p><p><b>RESULTS</b>Eight SNPs were detected in total. The linkage disequilibrium profile in the Guangzhou Han population was different from that in the Beijing Han population. However, the allele and genotype frequencies of tagSNPs between the two Han populations were not significantly different. The reporter gene assay showed that the -799A allele had significantly higher promoter activity than the -799T allele. Multiple regression analysis revealed that only the rs2248690 SNP was an independent contributor to serum AHAG concentration.</p><p><b>CONCLUSION</b>The rs2248690 SNP in the promoter region of the AHSG gene might affect the AHSG gene transcription.</p>


Assuntos
Proteínas Sanguíneas , Genética , Metabolismo , Ensaio de Imunoadsorção Enzimática , Genótipo , Desequilíbrio de Ligação , Polimorfismo de Nucleotídeo Único , Genética , Soro , Química , alfa-2-Glicoproteína-HS
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