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1.
Chinese Medical Journal ; (24): 805-810, 2019.
Article in English | WPRIM | ID: wpr-772206

ABSTRACT

BACKGROUND@#Abnormally activated mechanistic target of rapamycin (mTOR) pathway has been reported in several model animals with inherited metabolic myopathies (IMMs). However, the profiles of mTOR pathway in skeletal muscles from patients are still unknown. This study aimed to analyze the activity of mTOR pathway in IMMs muscles.@*METHODS@#We collected muscle samples from 25 patients with mitochondrial myopathy (MM), lipid storage disease (LSD) or Pompe disease (PD). To evaluate the activity of mTOR pathway in muscle specimens, phosphorylation of S6 ribosomal protein (p-S6) and p70S6 kinase (p-p70S6K) were analyzed by Western blotting and immunohistochemistry.@*RESULTS@#Western blotting results showed that p-p70S6K/p70S6K in muscles from LSD and MM was up-regulated when compared with normal controls (NC) (NC vs. LSD, U = 2.000, P = 0.024; NC vs. MM: U = 6.000, P = 0.043). Likewise, p-S6/S6 was also up-regulated in muscles from all three subgroups of IMMs (NC vs. LSD, U = 0.000, P = 0.006; NC vs. PD, U = 0.000, P = 0.006; NC vs. MM, U = 1.000, P = 0.007). Immunohistochemical study revealed that p-S6 was mainly expressed in fibers with metabolic defect. In MM muscles, most p-S6 positive fibers showed cytochrome C oxidase (COX) deficiency (U = 5.000, P = 0.001). In LSD and PD muscles, p-S6 was mainly overexpressed in fibers with intramuscular vacuoles containing lipid droplets (U = 0.000, P = 0.002) or basophilic materials (U = 0.000, P = 0.002).@*CONCLUSION@#The mTOR pathway might be activated in myofibers with various metabolic defects, which might provide evidence for mTOR inhibition therapy in human IMMs.


Subject(s)
Adolescent , Adult , Aged , Child , Child, Preschool , Female , Humans , Male , Middle Aged , Young Adult , Blotting, Western , Glycogen Storage Disease Type II , Genetics , Metabolism , Immunohistochemistry , In Vitro Techniques , Lipid Metabolism, Inborn Errors , Genetics , Metabolism , Mitochondrial Myopathies , Genetics , Metabolism , Muscular Diseases , Genetics , Metabolism , Signal Transduction , Genetics , Physiology , TOR Serine-Threonine Kinases , Metabolism
2.
Chinese Medical Journal ; (24): 2705-2712, 2018.
Article in English | WPRIM | ID: wpr-775032

ABSTRACT

Background@#Leigh syndrome (LS) is a rare disease caused by mitochondrial defects and has high phenotypic and genotypic heterogeneity. We analyzed the clinical symptoms, neuroimaging, muscular histopathology, and genotypes of 13 Chinese LS patients with mitochondrial DNA (mtDNA) mutations.@*Methods@#Mutations in mtDNA were identified by targeted sequencing. The brain imaging features on magnetic resonance imaging (MRI) were analyzed. The levels of lactate in fasting blood and cerebrospinal fluid (CSF) were routinely tested. The levels of urinary organic acids, plasma amino acids, and acylcarnitines were examined with gas chromatography-mass spectrometry and tandem mass spectrometry. The histopathological traits of skeletal muscles were analyzed under microscope.@*Results@#Among 13 patients, mutations of MT-NDs (n = 8) and MT-ATP6 (n = 4) genes were most common. Strabismus (8/13), muscle weakness (8/13), and ataxia (5/13) were also common, especially for the patients with late-onset age after 2 years old. However, respiratory distress was common in patients with early-onset age before 2 years old. The most frequently affected brain area in these patients was the brain stem (12/13), particularly the dorsal part of midbrain, followed by basal ganglia (6/13), thalamus (6/13), cerebellum (5/13), and supratentorial white matter (2/13). Besides, the elevated lactate levels in CSF (6/6) were more common than those in serum (7/13). However, the analysis of abnormal plasma amino acid and urinary organic acid showed limited results (0/3 and 1/4, respectively). Muscular histopathology showed mitochondrial myopathy in the three late-onset patients but not in the early-onset ones.@*Conclusions@#Noninvasive genetic screening is recommended for mtDNA mutations in MT-NDs and MT-ATP6 genes in patients with ophthalmoplegia, muscle weakness, ataxia, and respiratory disorder. Furthermore, the lactate detection in CSF and the brain MRI scanning are suggested as the diagnosis methods for LS patients with mtDNA mutations.


Subject(s)
Child , Child, Preschool , Female , Humans , Infant , Male , Creatine Kinase , Blood , Cytochrome-c Oxidase Deficiency , DNA, Mitochondrial , Genetics , Fasting , Blood , Cerebrospinal Fluid , Lactic Acid , Blood , Cerebrospinal Fluid , Leigh Disease , Diagnostic Imaging , Genetics , Magnetic Resonance Imaging , Mutation , Genetics , Neuroimaging , Methods
3.
Chinese Journal of Epidemiology ; (12): 1118-1120, 2017.
Article in Chinese | WPRIM | ID: wpr-737786

ABSTRACT

Objective To evaluate the reliability and validity of the Chinese version on comprehensive scores for financial toxicity (COST),based on the patient-reported outcome measures.Methods A total of 118 cancer patients were face-to-face interviewed by well-trained investigators.Cronbach's α and Pearson correlation coefficient were used to evaluate reliability.Content validity index (CVI) and exploratory factor analysis (EFA) were used to evaluate the content validity and construct validity,respectively.Results The Cronbach's a coefficient appeared as 0.889 for the whole questionnaire,with the results of test-retest were between 0.77 and 0.98.Scale-content validity index (S-CVI) appeared as 0.82,with item-content validity index (I-CVI) between 0.83 and 1.00.Two components were extracted from the Exploratory factor analysis,with cumulative rate as 68.04% and loading >0.60 on every item.Conclusion The Chinese version of COST scale showed high reliability and good validity,thus can be applied to assess the financial situation in cancer patients.

4.
Chinese Journal of Epidemiology ; (12): 1118-1120, 2017.
Article in Chinese | WPRIM | ID: wpr-736318

ABSTRACT

Objective To evaluate the reliability and validity of the Chinese version on comprehensive scores for financial toxicity (COST),based on the patient-reported outcome measures.Methods A total of 118 cancer patients were face-to-face interviewed by well-trained investigators.Cronbach's α and Pearson correlation coefficient were used to evaluate reliability.Content validity index (CVI) and exploratory factor analysis (EFA) were used to evaluate the content validity and construct validity,respectively.Results The Cronbach's a coefficient appeared as 0.889 for the whole questionnaire,with the results of test-retest were between 0.77 and 0.98.Scale-content validity index (S-CVI) appeared as 0.82,with item-content validity index (I-CVI) between 0.83 and 1.00.Two components were extracted from the Exploratory factor analysis,with cumulative rate as 68.04% and loading >0.60 on every item.Conclusion The Chinese version of COST scale showed high reliability and good validity,thus can be applied to assess the financial situation in cancer patients.

5.
Chinese Journal of Infection Control ; (4): 79-82, 2016.
Article in Chinese | WPRIM | ID: wpr-485727

ABSTRACT

Objective To explore the application value of cellular automata(CA)in simulating the epidemic spread of out-break of influenza A(H1N1).Methods The publications regarding influenza A(H1N1)from January 2009 to March 2015 were collected from the China National Knowledge Infrastructure(CNKI),epidemiological data of H1N1 were retrieved ac-cording to inclusion criteria,the Matlab 7.0 software was adopted to construct CA model for simulating and analyzing the epidemic of H1N1 occurred in a university in Chongqing between October 12 and November 20,2009.Results There were a total of 17 820 students in this university,the epidemic of influenza lasted 40 days in 2009;When the parameter,the ef-fective infection rate was 0.04,the model of CA fit well,and gave estimate for basic reproduction number (R0 )1.202. Conclusion CA has certain reliability in simulating epidemics of airborne infectious diseases,it can provide reference for the prevention and control of disease.

6.
International Eye Science ; (12): 1508-1510, 2014.
Article in Chinese | WPRIM | ID: wpr-641938

ABSTRACT

AIM: To compare the effect of trabeculectomy and combined surgery of glaucoma and cataract treating primary angle-closure glaucoma ( PACG) with cataract. METHODS: It was retrospectively reviewed that 80 patients (90 eyes) with PACG and cataract were treated in our hospital from January 2012 to October 2013. They were divided into observation group ( combined surgery of glaucoma and cataract group, 45 eyes ) and control group ( trabeculectomy group, 45 eyes) . Postoperatively, all the patients were followed up for 6mo. Intraocular pressure ( IOP ) , visual acuity and complications were observed. RESULTS: Compared to preoperative IOP, postoperative IOP was significantly reduced in both observation group and control group, while IOP was reduced more greatly in observation group (P=0. 003). Visual acuity was significantly improved in observation group, while it was not improved significantly in control group ( P = 0. 036 ). Compared to control group, complications such as shallow anterior chamber with hypotony, macular edema and anterior chamber inflammation were less observed in observation group, with significant statistical difference ( P=0. 002, P=0. 003, P=0. 001). CONCLUSION: For patients with PACG and cataract, combined surgery of glaucoma and cataract is an effective surgery that can improve visual acuity and reduce IOP with fewer complications.

7.
Chinese Journal of Preventive Medicine ; (12): 434-437, 2009.
Article in Chinese | WPRIM | ID: wpr-242635

ABSTRACT

<p><b>OBJECTIVE</b>To study the application of decision tree in the research of anemia among rural children.</p><p><b>METHODS</b>In the Enterprise Miner module of software SAS 8.2, 3000 observations were sampled from database and the decision tree model was built. The model using decision tree of CART bases on Gini impurity index.</p><p><b>RESULTS</b>The misclassification rate of decision tree model was, training set 21.2%, validation set 21.9%. The Root ASE of decision tree model was, training set 0.399, validation set 0.404. The area under the ROC curve was larger than the reference line. The diagnostic chart showed that the corresponding percentage was higher than the other. The decision tree model selected 9 important factors and ranked them by their power, among which mother of anemia (1.00) was the most important factor. Others were children's age (0.75), time of ablactation (0.53), mother's age (0.32), the time of egg supplementation (0.26), category of the project county (0.26), the time of milk supplementation (0.16), number of people in the family (0.13), the education status of the mother (0.12). Decision tree produced simple and easy rules that might be used to classify and predict in the same research.</p><p><b>CONCLUSION</b>Decision tree could screen out the important factors of anemia and identify the cutting-points for factors. With the wide application of decision tree, it would exhibit important application values in the research of the rural children health care.</p>


Subject(s)
Child, Preschool , Humans , Anemia , Decision Trees , Evaluation Studies as Topic , Rural Population , Sampling Studies
8.
Chinese Journal of Traumatology ; (6): 353-356, 2007.
Article in English | WPRIM | ID: wpr-236751

ABSTRACT

<p><b>OBJECTIVE</b>To provide a sound cell source for further ex-vivo gene therapy for chronic pain, we attempt to develop an immortalized rat astrocyte cell line that expresses enkephalin regulated by doxycycline.</p><p><b>METHODS</b>Retrovirus infection method was employed to develop an immortalized rat astrocyte cell line that could express enkephalin regulated by doxycycline. The hPPE gene expression level of immoralized astroyte cells (IAC)/ hPPE was detected by RT-PCR, indirect immunofluorescence staining and radioimmunoassay.</p><p><b>RESULTS</b>IAC carrying Tet-on system transfected with preproenkephalin gene could secrete enkephalin that was regulated by doxycycline in a dose-dependent manner and hPPE gene activation could be repeated in on-off-on cycles through administration or removal of doxycycline.</p><p><b>CONCLUSION</b>An immortalized rat astrocyte cell line that secrete enkephalin under the control of doxycycline is established successfully, which provides a research basis for transgenic cell transplantation for analgesia.</p>


Subject(s)
Animals , Rats , Anti-Bacterial Agents , Pharmacology , Astrocytes , Cell Line, Transformed , Chronic Disease , Doxycycline , Pharmacology , Enkephalins , Genetics , Metabolism , Genetic Therapy , Methods , Genetic Vectors , Neurotransmitter Agents , Genetics , Metabolism , Pain Management , Protein Precursors , Genetics , Metabolism , Retroviridae , Genetics
9.
Chinese Journal of Epidemiology ; (12): 109-114, 2007.
Article in Chinese | WPRIM | ID: wpr-232341

ABSTRACT

<p><b>OBJECTIVE</b>The study was to describe the breastfeeding status of children under the age of three in counties of western China and to provide evidence to the government for decision-making on intervention.</p><p><b>METHODS</b>A cross-sectional study with probability-proportional-to-size (PPS) sampling method was used. The information on breastfeeding was obtained through memory of the mothers. Fourteen thousand and seventy-seven children were studied. Data on breastfed status in counties of western China was compared with those of the children from the survey of the counties of western China in 2001.</p><p><b>RESULTS</b>The breastfeeding rate of children under 3 years old in western China was 96.5%. However, the overall breastfed rate of children under 6 months were only 33.4%, with rates of 11.4% and 22.0% on exclusively and predominantly breastfed groups respectively. Timely first-suckling rate was 43.5% with the continued breastfeeding rate (1 year) as 64.9%, but the continued breastfeeding rate (2 year) was only 9.7%. Reasons causing mothers to wean would include according to her own intention and to be able to attend the physical labor while exclusive breastfeeding under 6 months was for the growth and development of children, which might reduce the two-week prevalence of diarrhea. Major risks of exclusive breastfeeding of children under 6 months were seen as: level of education of the mothers, economic depression of the counties and mother's nationality (if as minority).</p><p><b>CONCLUSION</b>Most of the children were ever or being breastfed at the time of interview with timely first-suckling took place earlier than in 2001. However continued breastfeeding did not last long. During these five years, the exclusive breastfeeding rate had been at low level, especially at the economic depression and the minority area.</p>


Subject(s)
Child, Preschool , Humans , Infant , Infant, Newborn , Breast Feeding , Epidemiology , China , Epidemiology , Ethnology , Weaning
10.
Chinese Journal of Anesthesiology ; (12)1994.
Article in Chinese | WPRIM | ID: wpr-674205

ABSTRACT

Objective To construct an immortalized rat astrocyte strain expressing enkephalin which can be regulated by doxycycline.Methods pRevTet-On and recombinant plasmid pRevTRE/hPPE were transfected into packaging cell PT67 respectively by standard lipofectamine methods.The supernatant containing RevTet-On virus was used to infect immortalized rat astrocyte strain(IAST)and RevTRE/hPPE virus was used to infect the IAST/Tet-On cell.Immortalized rat astrocyte strain that stably expressed Tet-regulated enkephalin was established. hPPE gene expression level of IAST/Tet-On/hPPE cell strain was detected by real time-PCR,immuno- cytochemistry and radio-immunoassay.Results Real time-PCR,immuno-cytochemistry and radio-immunoassay confirmed the level of enkephalin expression was regulated by doxycycline in a dose-dependent manner.Conclusion An immortalized rat astrocyte strain which secrets enkephalin as controlled by doxycycline has been constructed successfully.

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