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1.
Stem Cell Res ; 79: 103486, 2024 Jul 02.
Artigo em Inglês | MEDLINE | ID: mdl-38968760

RESUMO

Pluripotent stem cells were generated through the electroporation of episomal plasmids, containing crucial reprogramming factors, into skin fibroblasts extracted from a female Alzheimer's patient harboring the PSEN1 709 T > C (p.Phe237Leu) heterozygous mutation. The pluripotent stem cells exhibit a normal karyotype and express pivotal stem cell markers including TRA-1-60, Nanog, SOX2, and OCT4. Furthermore, their capacity to differentiate into the three germ layers in in vivo teratoma experiments has been substantiated. The pluripotent stem cell line can serve as a cellular model for Alzheimer's disease, offering significant value in elucidating the pathogenesis and therapeutic strategies of the disease.

2.
Clin Genet ; 103(6): 663-671, 2023 06.
Artigo em Inglês | MEDLINE | ID: mdl-36999564

RESUMO

Limb-girdle muscular dystrophy recessive 1 (LGMDR1), previously known as LGMD2A, is a specific LGMD caused by a gene mutation encoding the calcium-dependent neutral cysteine protease calpain-3 (CAPN3). In our study, the compound heterozygosity with two missense variants c.635 T > C (p.Leu212Pro) and c.2120A > G (p.Asp707Gly) was identified in patients with LGMDR1. However, the pathogenicity of c.635 T > C has not been investigated. To evaluate the effects of this novel likely pathogenic variant to the motor system, the mouse model with c.635 T > C variant was prepared by CRISPR/Cas9 gene editing technique. The pathological results revealed that a limited number of inflammatory cells infiltrated the endomyocytes of certain c.635 T > C homozygous mice at 10 months of age. Compared with wild-type mice, motor function was not significantly impaired in Capn3 c. 635 T > C homozygous mice. Western blot and immunofluorescence assays further indicated that the expression levels of the Capn3 protein in muscle tissues of homozygous mice were similar to those of wild-type mice. However, the arrangement and ultrastructural alterations of the mitochondria in the muscular tissues of homozygous mice were confirmed by electron microscopy. Subsequently, muscle regeneration of LGMDR1 was simulated using cardiotoxin (CTX) to induce muscle necrosis and regeneration to trigger the injury modification process. The repair of the homozygous mice was significantly worse than that of the control mice at day 15 and day 21 following treatment, the c.635 T > C variant of Capn3 exhibited a significant effect on muscle regeneration of homozygous mice and induced mitochondrial damage. RNA-sequencing results demonstrated that the expression levels of the mitochondrial-related functional genes were significantly downregulated in the mutant mice. Taken together, the results of the present study strongly suggested that the LGMDR1 mouse model with a novel c.635 T > C variant in the Capn3 gene was significantly dysfunctional in muscle injury repair via impairment of the mitochondrial function.


Assuntos
Distrofia Muscular do Cíngulo dos Membros , Mutação de Sentido Incorreto , Humanos , Animais , Camundongos , Proteínas Musculares/genética , Músculo Esquelético/patologia , Distrofia Muscular do Cíngulo dos Membros/genética , Mutação , Calpaína/genética , Modelos Animais de Doenças
3.
Anal Chim Acta ; 897: 24-33, 2015 Oct 15.
Artigo em Inglês | MEDLINE | ID: mdl-26515002

RESUMO

A diffusive gradients in thin films (DGT) device for the analysis of free Cd(II) species, based on Cd(II) ion-imprinted sorbent (IIS) as the binding agents and commercial polyethersulfone membrane (PES) as diffusion layer, was developed (PES/IIS-DGT). DGT time-series experiments showed that the mass of free Cd(II) species accumulated by PES/IIS-DGT was linear vs. time (R(2) = 0.9953) and the concentration of free Cd(II) species by PES/IIS-DGT was in good agreement with the total dissolved concentrations of free Cd(II) species in simple synthetic solutions where free ionic species dominated. PES/IIS-DGT performance was independent in the range of pH 4.5-7.5 and ionic strength range from 1.0 × 10(-3) to 0.7 mol L(-1). The measurement of free Cd(II) species in synthetic solution containing different concentrations of ligands by PES/IIS-DGT showed an excellent agreement with the value measured by Cd(II) ion selective electrodes (Cd-ISE), indicating that PES/IIS-DGT method is more suitable than Cd-ISE for the measurement of low concentration of free Cd(II) species due to the enrichment of IIS for the analytes.


Assuntos
Cádmio/análise , Difusão , Impressão Molecular , Poluentes Químicos da Água/química , Adsorção
4.
Artigo em Chinês | MEDLINE | ID: mdl-23656811

RESUMO

OBJECTIVE: To study the possible association between interferon regulatory factor 5 (IRF5) gene polymorphism and allergic rhinitis (AR). METHODS: Six independent single nucleotide polymorphism (SNP, rs729302, rs4728142, rs3807306, rs2070197, rs11770589, rs2280714) were analyzed. The genotype and allele frequencies were detected in 110 AR patients and 101 healthy controls in Singapore Chinese population by polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP). RESULTS: Rs729302 was rejected as it was not polymorphic. For others SNP, no statistically significant difference was detected in genotype between AR and healthy control group (χ(2) value were 0.21, 5.02, 0.01, 2.91, 0.37, all P > 0.05). No statistically significant difference was detected in allele frequencies between AR and healthy control group (χ(2) value were 0.00, 2.78, 0.01, 2.31, 0.00, all P > 0.05). CONCLUSION: No association is observed between IRF5 and AR in Singapore Chinese population.


Assuntos
Fatores Reguladores de Interferon/genética , Polimorfismo de Nucleotídeo Único , Rinite Alérgica Perene/genética , Adolescente , Adulto , Idoso , Estudos de Casos e Controles , Feminino , Frequência do Gene , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Rinite Alérgica , Singapura , Adulto Jovem
5.
J Psychiatr Res ; 45(12): 1551-6, 2011 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-21820671

RESUMO

This study examined the prevalence of cigarette smoking and its socio-demographic and clinical characteristics in Chinese schizophrenia patients. A sample of 540 community-dwelling patients (female/male: 50.4% vs. 49.6%) with schizophrenia was interviewed using standardized assessment instruments. The patients' basic socio-demographic and clinical data including smoking were collected. The prevalence of cigarette smoking was 28.5% in the whole sample, and 53.6% and 4.0% for men and women, respectively. In univariate analyses, male sex, use of first generation antipsychotics (FGAs) and alcohol consumption were significantly associated with smoking. In multiple logistic regression analysis, male sex, alcohol consumption, older age and lower level of education were independently associated with smoking. The prevalence of smoking in Chinese schizophrenia patients is considerably lower than most figures reported from Western settings. The dramatic differences between males and females underscore the influence of cultural norms on smoking.


Assuntos
Características de Residência , Esquizofrenia/epidemiologia , Psicologia do Esquizofrênico , Fumar/epidemiologia , Adulto , China/epidemiologia , Manual Diagnóstico e Estatístico de Transtornos Mentais , Feminino , Humanos , Classificação Internacional de Doenças , Modelos Logísticos , Masculino , Pessoa de Meia-Idade , Estatísticas não Paramétricas
6.
Zhonghua Yi Xue Za Zhi ; 90(25): 1770-2, 2010 Jul 06.
Artigo em Chinês | MEDLINE | ID: mdl-20979897

RESUMO

OBJECTIVE: To discuss the localization diagnosis value of laparoscopic ultrasonography in laparoscopic surgery of insulinoma. METHODS: Retrospectively reviewed the results of laparoscopic ultrasonography in 32 patients from Jan 2007 to Aug 2008 with insulinoma which confirmed after surgery, and analyzed the detection rate of laparoscopic ultrasonography. RESULTS: Insulinoma tumors were success located in 31 patients among 32 patients by laparoscopic ultrasonography. The detection rate was 96.9% and the location accurate rate was 100%. Thirty-seven insulinoma tumors were detected in 31 cases, including 29 solitary insulinoma and 2 multiple insulinomas. One patient did not show a definite tumor in the pancreas and extrapancreatic organ during the laparoscopic ultrasonography examination. CONCLUSION: Laparoscopic ultrasonography has a high detection rate in localizing diagnosis of insulinoma and can clear display the relationship between tumor and adjacent tissue. It is useful for surgeon to select the suitable operation modality.


Assuntos
Insulinoma/diagnóstico por imagem , Neoplasias Pancreáticas/diagnóstico por imagem , Adulto , Idoso , Feminino , Humanos , Laparoscopia/métodos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Ultrassonografia
7.
J Biosci ; 34(2): 221-6, 2009 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-19550038

RESUMO

The aim of this study was to construct a ribosome display library of single chain variable fragments (scFvs) associated with hepatocarcinoma and screen such a library for hepatocarcinoma-binding scFvs. mRNA was isolated from the spleens of mice immunized with hepatocellular carcinoma cell line HepG2. Heavy and k chain genes (VH and k) were amplified separately by RT-PCR, and an anti-HepG2 VH/k chain ribosome display library was constructed by assembling VH and k into the VH/k chain with a specially constructed linker by SOE-PCR. The VH/k chain library was transcribed and translated in vitro using a rabbit reticulocyte lysate system. In order to isolate specific scFvs, recognizing HepG2 negative selection on a normal hepatocyte line WRL-68 was carried out before three rounds of positive selection on HepG2. After three rounds of panning, cell enzyme-linked immunosorbent assay (ELISA) showed that one of the scFvs had high affinity for the HepG2 cell and lower affinity for the WRL-68 cell. In this study, we successfully constructed a native ribosome display library. Such a library would prove useful for direct intact cell panning using ribosome display technology. The selected scFv had a potential value for hepatocarcinoma treatment.


Assuntos
Cadeias Pesadas de Imunoglobulinas/química , Neoplasias Hepáticas/metabolismo , Ribossomos/metabolismo , Animais , Carcinoma Hepatocelular/metabolismo , Linhagem Celular , Ensaio de Imunoadsorção Enzimática , Feminino , Humanos , Fragmentos de Imunoglobulinas , Neoplasias Hepáticas/química , Camundongos , Camundongos Endogâmicos BALB C , Modelos Biológicos , Reação em Cadeia da Polimerase , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Ribossomos/química
8.
Zhongguo Yi Xue Ke Xue Yuan Xue Bao ; 30(1): 27-30, 2008 Feb.
Artigo em Chinês | MEDLINE | ID: mdl-18361048

RESUMO

OBJECTIVE: To study the role of contrast-enhanced ultrasound (CEUS) in the management of splenic trauma METHODS: Forty patients with splenic trauma underwent CEUS examination and then different management were provided according to the examination results and the general status of patients: conservative treatment (group I, n = 19); CEUS-guided injective therapy (group II, n = 6); and surgery (group III, n = 15). RESULTS: Eighteen patients were cured in group I and one patient experienced rehaemorrhagia. The haemostatic effect of CEUS-guided injective therapy was obvious in all six patients in group II. Among them, one patient experienced arteriovenous fistula, which was resolved after one week of injective therapy. Fifteen patients in Group III underwent surgery and were cured. CONCLUSION: CEUS can provide reliable information for therapy mode selection in patients with splenic trauma and can be used to guide injective therapy.


Assuntos
Meios de Contraste , Baço/diagnóstico por imagem , Baço/lesões , Humanos , Ultrassonografia , Ferimentos não Penetrantes/diagnóstico por imagem , Ferimentos não Penetrantes/terapia
10.
Guang Pu Xue Yu Guang Pu Fen Xi ; 24(10): 1202-4, 2004 Oct.
Artigo em Chinês | MEDLINE | ID: mdl-15760020

RESUMO

In this paper, the mid-infrared Attenuated Total Reflection (ATR) spectra of two slathered pesticides dichlorvos and trichlorfon in vegetable juice solution have been investigated. It can be concluded that within characteristic absorption region of the two pesticides in the mid-infrared range, the pigments inside the vegetable have no effect on the pesticide' s absorbance; pesticides in standard solution and vegetable juice solution share almost the same absorbance characteristics. These results indicate that: the authors can use the model built by the absorbance data of pesticides in water solution to simulate their absorbance in vegetable solution, then based upon infrared spectroscopy, the direct detection of pesticide residue on the vegetable can be achieved; it also provides a possible way of rapid detection on vegetable in the future.


Assuntos
Contaminação de Alimentos , Compostos Organofosforados/isolamento & purificação , Resíduos de Praguicidas/isolamento & purificação , Espectrofotometria Infravermelho/métodos , Verduras/química , Dióxido de Carbono/metabolismo , Carcinógenos/toxicidade , Exposição Ambiental , Compostos Organofosforados/toxicidade , Resíduos de Praguicidas/toxicidade , Solubilidade , Fatores de Tempo , Volatilização
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