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1.
Chinese Journal of Cellular and Molecular Immunology ; (12): 610-616, 2023.
Article in Chinese | WPRIM | ID: wpr-981907

ABSTRACT

Objective To investigate the effects of formononetin (FMN) on cognitive behavior and inflammation in aging rats with chronic unpredictable mild stress (CUMS). Methods SD rats aged about 70 weeks were divided into healthy control group, CUMS model group, CUMS combined with 10 mg/kg FMN group, CUMS combined with 20 mg/kg FMN group and CUMS combined with 1.8 mg/kg fluoxetine hydrochloride (Flu) group. Except for healthy control group, other groups were stimulated with CUMS and administered drugs for 28 days. Sugar water preference, forced swimming experiment and open field experiment were used to observe the emotional behavior of rats in each group. HE staining was used to observe the pathological injury degree of brain equine area. The contents of 5-hydroxytryptamine (5-HT) and 5-hydroxyindoleacetic acid (5-HIAA) were detected by the kit. The apoptosis was tested by terminal deoxynucleotidyl transferase-mediated dUTP nick-end labeling (TUNEL) in the brain tissue. The levels of tumor necrosis factor α (TNF-α), inducible nitric oxide synthase (iNOS) and interleukin 6 (IL-6) in peripheral blood were measured by ELISA. Western blot analysis was used to detect Bcl2, Bcl2 associated X protein (BAX), cleaved caspase-9, cleaved caspase-3, Toll-like receptor 4 (TLR4), myeloid differentiation factor 88 (MyD88), and phosphorylated nuclear factor κB p65 (p-NF-κB p65) in brain tissues. Results Compared with CUMS model group, sugar water consumption, open field activity time, open field travel distance and swimming activity time significantly increased in the CUMS combined with 20 mg/kg FMN group and the CUMS combined with 1.8 mg/kg Flu group. The number of new outarm entry increased significantly, while the number of initial arm entry and other arm entry decreased significantly. The pathological damage of brain equine area was alleviated, and the contents of 5-HT and 5-HIAA were significantly increased. The ratio of BAX/Bcl2 and the expression of cleaved caspase-9 and cleaved caspase-3 protein as well as the number of apoptotic cells were significantly decreased. The contents of TNF-α, iNOS and IL-6 were significantly decreased. The protein levels of TLR4, MyD88 and p-NF-κB p65 were significantly decreased. Conclusion FMN can inhibit the release of inflammatory factors by blocking NF-κB pathway and improve cognitive and behavioral ability of CUMS aged rats.


Subject(s)
Rats , Animals , Horses , NF-kappa B/metabolism , Signal Transduction , bcl-2-Associated X Protein/metabolism , Toll-Like Receptor 4/metabolism , Caspase 3/metabolism , Caspase 9/metabolism , Interleukin-6/metabolism , Tumor Necrosis Factor-alpha/metabolism , Myeloid Differentiation Factor 88 , Hydroxyindoleacetic Acid/pharmacology , Serotonin/metabolism , Rats, Sprague-Dawley , Hippocampus/metabolism , Cognition
2.
Journal of Public Health and Preventive Medicine ; (6): 47-51, 2022.
Article in Chinese | WPRIM | ID: wpr-923335

ABSTRACT

Objective To investigate the current situation of animal injury among children in Chongqing, and to provide a scientific basis for relevant departments to formulate and implement strategies and measures to prevent and control animal injury to children. Methods According to the method of multi-stage stratified cluster sampling, 14,056 children in grades 4-12 in four districts of Chongqing were selected as the investigation subjects, and the occurrence of animal injuries in the past 6 months was investigated. Results The incidence of animal injury among school children in Chongqing was 0.35% and the incidence of person-time was 0.36%. The incidence rate in males (0.48%) was higher than that in females (0.31%). The incidence rate in urban children (0.43%) was higher than that in rural children (0.30%). The incidence of animal injury was the lowest in nuclear families (0.25%), and the highest in single-parent families (0.82%). There were statistically significant differences in the incidence of animal injuries in children among different fathers' occupational types, family types and parents' parenting styles (P<0.05).  The main place of child animal injury was home (57.14%). Recreational activities were the main cause of animal injury (51.02%). The main injuries were lower limbs (42.86%), upper limbs (24.49%) and head (10.20%). Conclusion The prevention and control of children's animal injury in Chongqing should focus on boys and families. It is suggested to take targeted and comprehensive interventions to prevent animal injuries in children.

3.
Chinese Pediatric Emergency Medicine ; (12): 960-963, 2021.
Article in Chinese | WPRIM | ID: wpr-908400

ABSTRACT

Objective:To investigate the current situation of children′s awareness of disaster prevention and self-rescue ability in Mianyang area, provide reference for the development of scientific training programs on children′s disaster knowledge, and improve children′s survival ability during the disaster occurence.Methods:Through literature review and expert consultation, the questionnaire was designed by ourselves.Multi-stage sampling method was used to investigate 2 162 cases from county (city) high school, junior high school and primary school in Mianyang area.Results:8.3% of children had weak disaster awareness.Children had a good understanding of disaster related knowledge, with the highest alarm call awareness rate of 91.8%, fire, flood, earthquake escape and earthquake warning score of 86.5%, 84.2%, 84.2%, 83.0%.Cardiopulmonary resuscitation and fire hydrant operation awareness rate was very low (58.8%, 57.4%). Even some children still chose improper escape behavior.The scores of early warning knowledge and first aid skill were correlated with gender and age.In knowledge of disaster precursors, using of fire extinguishers and hydrants, and first aid skills, the scores of boys were significantly higher than those of girls ( P<0.001). Except for fire-related knowledge, gas leakage escape and shelter awareness rate, the older the children were, the higher the scores were ( P<0.05). The scores of early warning, escape knowledge and first aid skills were correlated with the location of home, and the differences were significant ( P>0.001). More than 80.0% of children chose flashlights, food and water, and emergency kits, while 65.0% to 75.0% children thought it was not necessary to prepare a radio, telephone directory, and cash. Conclusion:Children′s awareness of disaster reduction and self-rescue ability are generally good, but there are still insufficient first-aid skills and improper choice of escape behavior.The education of disaster awareness and self-rescue ability should be strengthened in children′s basic education so as to reduce the casualties of children caused by disasters.

4.
Chinese Journal of Practical Nursing ; (36): 1604-1608, 2021.
Article in Chinese | WPRIM | ID: wpr-908126

ABSTRACT

Objective:To explore the factors affecting the success rate of deep venous catheterization in emergency department patients.Methods:A total of 578 patients who needed deep venous catheterization in the emergency department of the Third Hospital of Hebei Medical University from December 2015 to June 2019 were selected as the research subjects. Univariate analysis and Logistic regression analysis were performed to construct the model, and receiver operating characteristic curve was used to evaluate the diagnostic efficacy.Results:Among the 578 samples, 467 (80.8%) succeeded and 111 (19.2%) failed. The results of univariate analysis showed that six factors including gender, history of deep vein insertion, catheter type, operator length of service, insertion route, and blood pressure were related to the success rate of catheterization ( χ2 value was 10.231-179.665, P<0.05). Logistic regression analysis showed that these six factors were independent predictors of the success rate of deep vein catheterization ( OR value was 1.542-8.467, P<0.05). Based on this, the model was established and the area under the receiver operating characteristic curve of the model was 0.954. Conclusions:There are many factors influencing the success rate of deep venous catheterization in the emergency department. The technical level of the operator should be improved, and the appropriate catheter type and insertion route should be selected to improve the success rate of the catheterization.

5.
Annals of Laboratory Medicine ; : 101-107, 2021.
Article in English | WPRIM | ID: wpr-874131

ABSTRACT

Background@#Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder mainly caused by homozygous deletions that include exon 7 of the survival motor neuron 1 (SMN1) gene. A nearby paralog gene, SMN2, obstructs the specific detection of SMN1. We optimized a duplexed real-time PCR approach using locked nucleic acid (LNA)-modified primers to specifically detect SMN1. @*Methods@#An LNA-modified primer pair with 3´ ends targeting SMN1 specific sites c.835-44g and c.840C was designed, and its specificity was examined by real-time PCR and Sanger Sequencing. A duplexed real-time PCR approach for amplifying SMN1 and control gene albumin (ALB) was developed. A randomized double-blind trial with 97 fresh peripheral blood samples and 25 dried blood spots (DBS) was conducted to evaluate the clinical efficacy of the duplexed approach. This new approach was then used to screen 753 newborn DBS. @*Results@#The LNA-modified primers exhibited enhanced specificity and 6.8% increased efficiency for SMN1 amplification, compared with conventional primers. After stabilizing the SMN1 test by optimizing the duplexed real-time PCR approach, a clinical trial validated that the sensitivity and specificity of our new approach for detecting SMA patients and carriers was 100%. Using this new approach, 15 of the screened 753 newborns were identified as carriers via DBS, while the rest were identified as normal individuals. These data reveal a carrier rate of 1.99% in Hunan province, South Central China. @*Conclusions@#We have developed a novel, specific SMN1 detection approach utilizing real-time PCR with LNA-modified primers, which could be applied to both prenatal carrier and newborn screening.

6.
Chinese Journal of Medical Genetics ; (6): 1241-1243, 2020.
Article in Chinese | WPRIM | ID: wpr-879475

ABSTRACT

OBJECTIVE@#To analyze the molecular etiology of a Chinese child affected with dihydropyrimidinase deficiency.@*METHODS@#Genomic DNA was extracted from peripheral blood samples of the family members. Pathogenic variant was determined by whole exome sequencing and verified by Sanger sequencing.@*RESULTS@#The child was found to harbor homozygous c.905G>A (p.Arg302Gln) variants in exon 5 of the DPYS gene, for which her parents were both heterozygous carriers.@*CONCLUSION@#The homozygous c.905G>A (p.Arg302Gln) variants of the DPYS gene probably underlies the dihydropyrimidinase deficiency in the child. Above result has enabled genetic counseling and prenatal diagnosis for this family.


Subject(s)
Child , Female , Humans , Amidohydrolases/genetics , Asian People/genetics , Exons , Metabolism, Inborn Errors/genetics , Mutation , Pedigree
7.
Chinese Journal of Practical Nursing ; (36): 1754-1759, 2020.
Article in Chinese | WPRIM | ID: wpr-864663

ABSTRACT

Objective:To understand the research status and research hotspots of syndrome differentiation nursing of pectoral stuffiness pain(coronary disease), analyze its existing problems, and provide reference for the development of related research in the future.Methods:The China National Knowledge Infrastructure(CNKI) database was used as a data source to search for relevant literatures. We analyzed the authors, institutions and keywords with CiteSpace 5.3.R8 software, and drew the distribution map of the number of literature published by the related authors and institutions with GraphPad Prism 6.07 software.Results:A total of 356 articles were included in the study. The research power in the field of syndrome differentiation nursing of pectoral stuffiness pain(coronary disease) was mainly concentrated in the Affiliated Hospital of Liaoning University of Traditional Chinese Medicine. The researchers were mainly Lin Xiaoli and Yang Yuzhu. After clustering 58 keywords, 6 research hotspots of syndrome differentiation nursing for pectoral stuffiness pain(coronary disease) were discovered: importance of emotional nursing; exploration of different nursing forms; study of prognostic significance; embodiment of clinical application value; syndrome differentiation nursing of integrating Chinese and Western medicine; application of characteristic nursing technology of Traditional Chinese Medicine.Conclusions:Among the six research hotspots, the emotional nursing, syndrome differentiation nursing of integrating Chinese and Western medicine and application of characteristic nursing technology of Traditional Chinese Medicine are the research hotspots in recent years(2011-2018). In addition, in order to promote the progress and development of this field, it is necessary to strengthen cooperation and exchanges between authors and institutions, and conduct more in-depth research on the basis of existing research, constantly explore new research directions, and further improve the system of syndrome differentiation nursing.

8.
Chinese Journal of Practical Nursing ; (36): 1240-1244, 2020.
Article in Chinese | WPRIM | ID: wpr-864576

ABSTRACT

Objective:Through the analysis of the ancient books for pectoral stuffiness pain, to explore the relevant Chinese herbal medicine prescriptions, the main syndrome factors corresponding to the prescriptions and the content of medication nursing.Methods:We used the database of Chinese Medical Code (5th Edition) as the data source, and established a database, extracted relevant contents. In the end we carried out statistical analysis and discussion.Results:Four main syndrome factors were extracted from the 102 kinds of prescriptions, which were cold coagulation, qi stagnation, blood stasis and turbid phlegm. The corresponding medication nursing measures mainly contained five aspects, including the temperature, time, frequency, solution of taking medicine and medication taboo. Among them, the temperature of taking medicine was mainly warm and hot; the time of taking medicine was mainly before eating, after eating, empty stomach, before breakfast, at noon, Before sleep and regardless of the time; the frequency of taking medicine was mainly two times a day, three times a day, three times a day and once a night; the solution of taking medicine was mainly wine, porridge, ginger decoction, orange peel decoction, Chen-pi decoction, vinegar decoction and so on; the medication taboo was mainly onions, pork, cold, cabbage, mutton and so on.Conclusion:The study of medication nursing for pectoral stuffiness pain based on the theory of syndrome factors is beneficial to promote the theoretical and clinical research for the disease. It can promote the standardization of medication nursing, improve the nursing staff's ability of syndrome differentiation nursing, and provide a reference for clinical medication nursing of Traditional Chinese Medicine.

9.
Chinese Journal of Practical Nursing ; (36): 950-955, 2020.
Article in Chinese | WPRIM | ID: wpr-864521

ABSTRACT

Objective:To retrieve and select the available evidence on preventing the fall on the home-based elderly people and summarize the best available evidence.Methods:The BMJ Best Practice, UpToData, Registered Nurses′ Association of Ontario (RANO), National Guideline Clearinghouse (NGC), National Institute for Health and Care Excellence (NICE), Joanna Briggs Institute (JBI), Cochrane Library, and complementally the Center for Disease Control and Prevention(CDC), PubMed、CNKI and SinoMed were searched to collect literatures including guideline, evidence summary, best practice information sheet, recommended practice, systematic review/Meta-analysis.Results:13 articles were selected, including 6 guidelines, 1 clinical decision, 1 evidence summary, 5 systematic reviews/Meta-analysis. Finally, 8 items of best evidence were summarized.Conclusions:Healthcare workers should appropriately consult the best evidence to prevent falling and falling injuries for the home-based elderly people, and finally improve their health-related quality of life.

10.
Journal of Public Health and Preventive Medicine ; (6): 79-82, 2020.
Article in Chinese | WPRIM | ID: wpr-862522

ABSTRACT

Objective To analyze the characteristics and changing trend of injury death among elderly residents aged 65 and above in Chongqing from 2013 to 2017, and to provide a basis for formulating intervention strategies for elderly injuries. Methods Based on monitoring data of death causes of permanent residents in Chongqing from 2013 to 2017, the injury death cases of elderly residents aged 65 and above were extracted, and the mortality rate and sequence were calculated. The standard mortality rate was calculated based on the standard population composition of the sixth national population census in 2010. The Joinpoint Regression Program 4.2 software was used to analyze the death trend. Results From 2013 to 2017, the average annual crude injury mortality rate of Chongqing residents aged 65 and above was 140.89/100 000, and the standardized mortality rate was 12.57/100 000. The crude death rate of male elderly residents was higher than that of female residents in the same year (P <0.001), and the injury mortality rate increased with the age of the elderly (P <0.001). The injury mortality rate of female and all elderly residents, and elderly residents in the 75- and 85-year-old groups showed an upward trend (P<0.05). Falls, road traffic injuries, suicide, other accidental injuries and drowning were the top five causes of injury death in Chongqing, accounting for 93.16% of the total injury deaths. In the past five years, the fall mortality of elderly residents in Chongqing showed an upward trend (P < 0.05). Falling was the first cause of injury death for elderly aged 70 and above in Chongqing. The crude rate of death of elderly residents aged 85 and over was 313.52 /100 000. Conclusion The injury mortality and fall mortality of elderly residents aged 65 and above in Chongqing showed a rising trend in the past five years. It is urgent to take measures to prevent injury and falls for seniors in Chongqing.

11.
Chinese Journal of Practical Nursing ; (36): 1576-1581, 2019.
Article in Chinese | WPRIM | ID: wpr-803139

ABSTRACT

Objective@#Based on the analysis of the ancient literatures about chest stuffiness and pains in Chrono-Medicine of traditional Chinese medicine,to study the content of timing medication in chest stuffiness and pains.@*Methods@#According to the database of Chinese Medical Code, searching the ancient literatures and establishing the database, extracting the contents of chest stuffiness and pains’s prescription which covering timing medication. And the statistical analysis and content discussion were carried out according to the choice of taking medicine.@*Results@#The 67 kinds of traditional Chinese medicine included were qi regulating agent, dispelling cold agent, expectorant agent and blood regulating agent. Besides,the time of taking medicine is used to be3:00-5:00,7:00-9:00,11:00-13:00,17:00-19:00, 19:00-21:00, 21:00-23:00.Take medicine once a day in the morning, twice a day, three times a day, three times a day and once a night. It is recommended that timing medication in clinical should be increased in time of 21:00-23:00 and 11:00-13:00, and paying more attention to the heart channel corresponding and the heart pericardium channel in time of 11:00-13:00 and 19:00-21:00.@*Conclusion@#Timing medication is beneficial to the optimization of therapeutic effect and minimization of toxicity of traditional Chinese medicine, which needs to provide the best evidence for further multi-center clinical trial research, and promote the popularization of timing medicine in clinical practice.

12.
Chinese Journal of Practical Nursing ; (36): 1576-1581, 2019.
Article in Chinese | WPRIM | ID: wpr-752689

ABSTRACT

Objective Based on the analysis of the ancient literatures about chest stuffiness and pains in Chrono_Medicine of traditional Chinese medicine,to study the content of timing medication in chest stuffiness and pains. Methods According to the database of Chinese Medical Code, searching the ancient literatures and establishing the database, extracting the contents of chest stuffiness and pains’s prescription which covering timing medication. And the statistical analysis and content discussion were carried out according to the choice of taking medicine. Results The 67 kinds of traditional Chinese medicine included were qi regulating agent, dispelling cold agent, expectorant agent and blood regulating agent. Besides,the time of taking medicine is used to be3:00-5:00,7:00-9:00,11:00-13:00,17:00-19:00, 19:00-21:00, 21:00-23:00.Take medicine once a day in the morning, twice a day, three times a day, three times a day and once a night. It is recommended that timing medication in clinical should be increased in time of 21:00-23:00 and 11:00-13:00 ,and paying more attention to the heart channel corresponding and the heart pericardium channel in time of 11:00- 13:00 and 19:00- 21:00. Conclusion Timing medication is beneficial to the optimization of therapeutic effect and minimization of toxicity of traditional Chinese medicine, which needs to provide the best evidence for further multi_center clinical trial research, and promote the popularization of timing medicine in clinical practice.

13.
Chinese Journal of Industrial Hygiene and Occupational Diseases ; (12): 840-843, 2018.
Article in Chinese | WPRIM | ID: wpr-807585

ABSTRACT

Objective@#To investigate the influence of occupational stress on recurrent spontaneous abortion (RSA) in women of childbearing age.@*Methods@#From January to December, 2017, 75 working women of childbearing age (25-35 years) who were admitted to a provisional hospital in Lanzhou, China and diagnosed with RSA were assigned into patient group. At a 1∶4 ratio, 300 age-matched working women who had normal first pregnancy were randomly selected as controls. A case-control study was conducted by a self-made questionnaire and the effort-reward imbalance scale. The impact of occupational stress on RSA in women of childbearing age was analyzed by evaluation of occupational harmful factors, regularity, effort-reward ratio, and sleep quality.@*Results@#There were significant differences in the distribution of sleep, daily exercise, night shift, extrinsic-effort/low-reward score, and effort/low-reward score between the patient group and the control group (χ2=7.867, P<0.05; χ2=7.377, P<0.05; χ2=3.714, P<0.05; χ2=6.651, P<0.05; χ2=8.556, P<0.05) . With controlled factors such as general conditions and living habits, logistic regression analysis showed that poor sleep quality and high-effort/low-reward were risk factors for RSA (odds ratio[OR]=1.462, 95% confidence interval[CI]: 1.032~2.073; OR=3.253, 95%CI: 1.169~9.053) . A regular work was a protective factor against RSA (OR=0.644, 95%CI: 0.438-0.946) .@*Conclusion@#In occupational stress, irregular working hours, lack of sleep, and high-effort/low-reward are risk factors for RSA. Working women of childbearing age should ensure adequate sleep, pay attention to effort-reward balance, and make a regular work schedule.

14.
Chinese Journal of Applied Clinical Pediatrics ; (24): 1258-1262, 2018.
Article in Chinese | WPRIM | ID: wpr-696572

ABSTRACT

Objective To investigate the clinical features and gene diagnostic bases of childhood L-2 -hydroxyglutaric aciduria (L-2-HGA). Methods The clinical data involving manifestations,laboratory examinations of 4 children with L-2-HGA admitted to Beijing Children′s Hospital Affiliated to Capital Medical University from April 2015 to March 2018 were retrospectively analyzed. Each patient had a follow-up visit ranging from 3 months to 3 years and 2 months after initial examination. Results The 4 patients,of whom 2 were siblings,consisted of 1 male and 3 females,whose age of onset ranged from 8 months old to 3 years old. All of them presented with seizures as their initial symptom. The developmental milestones were all normal before onset,while 3 cases gradually became mentally stagnant. Other symptoms included unsteady gait in 3 cases,slight hand trembling when holding items in 2 cases,and pyramidal impairment in 2 cases. Bilateral symmetric abnormalities in subcortical white matter,basal ganglia and dentate nucleus were detected by cranial magnetic resonance imaging (MRI)in all patients,and cerebral and cerebellar atrophy was ob-served in 1 case. Organic acid analysis by gas chromatography/ mass spectrometry (GC/ MS)demonstrated notable ele-vation of urinary 2-hydroxyglutaric acid in 3 cases. Pathogenic mutations on L2HGDH gene were detected by target -capture high-throughput sequencing in all 4 patients. The compound heterozygous mutations of c. 845G > A (p. Arg282Gln)and c. 800_801delCA (p. Ser267Ter)were identified in case 1,the homozygous missense mutation of c. 584A > G (p. Tyr195Cys ) in case 2 and case 3,and the homozygous frameshift mutation of c. 407delA (p. Lys136SerfsTer3)in case 4. The variants of c. 800_801delCA and c. 407delA were novel mutations firstly reported in this study. Sanger sequencing verified that parents of the 4 cases were all heterozygous carriers. The follow-up study in 2 cases who were put on high dosage of vitamin B2 and L-carnitine had shown a relatively favorable outcome of mild remission in ataxia and absence of mental degradation and further seizures,while the other 2 cases without specific therapy remained relatively stable. Conclusions The main clinical manifestations of L-2-HGA are mental retarda-tion,seizures and ataxia. Bilateral symmetric abnormalities in subcortical white matter,basal ganglia and dentate nucleus are specific neuroimaging findings. Significant elevation of urinary 2-hydroxyglutaric acid is the basic feature of the disease,while gene assessment should be the gold standard in the diagnosis of L-2-HGA. Treatment with high dosage of vitamin B2 and L-carnitine might be effective to partial patients.

15.
Chinese Journal of Medical Genetics ; (6): 824-827, 2018.
Article in Chinese | WPRIM | ID: wpr-775828

ABSTRACT

OBJECTIVE@#To explore the molecular etiology for a Chinese family affected with beta-ureidopropinoase deficiency.@*METHODS@#Genomic DNA was extracted from the peripheral blood samples of family members. All exons and flanking intron regions of the UPB1 gene were amplified by PCR and detected by direct sequencing. The pathogenicity of identified mutation was analyzed using Polyphen2 and SIFT software.@*RESULTS@#Compound heterozygous mutations of the UPB1 gene, including c.853G>A (p.A285T) and c.917-1G>A, were discovered in the proband, which were inherited respectively from his mother and father. Bioinformatics analysis suggested that this novel mutation was damaging.@*CONCLUSION@#The compound heterozygous mutations of the UPB1 gene probably underlie the beta-ureidopropinoase deficiency in the infant. Discovery of c.853G>A also enriched the mutation spectrum of the UPB1 gene.


Subject(s)
Humans , Infant , Abnormalities, Multiple , Genetics , Amidohydrolases , Genetics , Asian People , Brain Diseases , Genetics , China , Exons , Introns , Movement Disorders , Genetics , Mutation , Pedigree , Purine-Pyrimidine Metabolism, Inborn Errors , Genetics
16.
Chinese Journal of Medical Genetics ; (6): 6-9, 2017.
Article in Chinese | WPRIM | ID: wpr-345336

ABSTRACT

<p><b>OBJECTIVE</b>To detect potential mutation in a Chinese family affected with succinic semialdehyde dehydrogenase deficiency.</p><p><b>METHODS</b>Genomic DNA was extracted from the peripheral blood samples of the proband, her family members and 100 healthy controls. All exons and flanking intronic regions of the ALDH5A1 gene were amplified by PCR and subjected to direct sequencing.</p><p><b>RESULTS</b>The proband was found to have compound heterozygous mutations of the ALDH5A1 gene, namely c.398_399delAA (p.N134X) and c.638G>T (p.R213L), for which her parents were both heterozygous carriers. The same mutations were not found among the 100 healthy controls.</p><p><b>CONCLUSION</b>The novel mutations of the ALDH5A1 gene probably underlie the pathogenesis of the disease in the infant, which also enriched the mutation spectrum of the ALDH5A1 gene.</p>


Subject(s)
Female , Humans , Infant , Male , Amino Acid Metabolism, Inborn Errors , Ethnology , Genetics , Amino Acid Sequence , Asian People , Genetics , Base Sequence , China , DNA Mutational Analysis , Methods , Developmental Disabilities , Ethnology , Genetics , Exons , Genetics , Family Health , Heterozygote , Introns , Genetics , Mutation , Sequence Homology, Amino Acid , Succinate-Semialdehyde Dehydrogenase , Genetics
17.
China Pharmacist ; (12): 946-948, 2017.
Article in Chinese | WPRIM | ID: wpr-610149

ABSTRACT

Objective: To provide a method of microbial limit test for Changyanning tablets and carry out the verification of the mothod.Methods: A plate method was used in the total aerobic microbial count and the concentration of the test liquid was 1∶100.A plate method was used in the total yeast and mold count while the concentration of the test liquid was 1∶10.The direct inoculation method was used for the detection of Escherichia coli,bile-tolerant gram-negative bacteria and Salmonella enterica subsp.Results: The recoveries of the five strains were from 0.5 to 2.0.Conclusion: The method is suitable for the microbial limit examination of Changyanning tablets.

18.
Fudan University Journal of Medical Sciences ; (6): 162-167, 2017.
Article in Chinese | WPRIM | ID: wpr-512679

ABSTRACT

Objective To investigate the health seeking intention and its influencing factors among patients with type 2 diabetes in Chongqing Chronic Disease Management System.Methods Multistage cluster random sampling was used to investigate basic information,diabetes-related treatment situation including first heal seeking and reasons for choosing medical institutions in the last year.Relative risk ratios (RRR) and its influencing factors were analyzed with the method of multi-nominal Logistic regression,as community as a reference.Results Over the past year,38.02% of type 2 diabetes patients preferred to hospitals above the county level,36.78% preferred to pharmacy or clinics,and 25.21% preferred to community health service centers.Univariate analysis showed that different education levels,family income levels,health insurance and therapies were significantly different from health seeking intention.Multi-nominal Logistic regression results indicated that higher educational level (RRR =2.39,95% CI:1.20-4.78),higher income level (RRR =3.37,95%CI:1.44 -7.88),applying to specific diseases medical insurance (RRR =3.32,95 %CI:1.72-6.42),the use of insulin and oral hypoglycemic agents (RRR =5.02,95%CI:1.15-22.00) of respondents were more inclined to the hospitals above the county level,rather than community health services.Conclusions Health seeking intention of type 2 diabetes patients preferred to hospital above the county level in Chongqing.Type 2 diabetes was an important disease of non-infectious chronic diseases,while the patients preferred go to utilize hospitals rather than community services.

19.
Chinese Journal of Endemiology ; (12): 682-684, 2017.
Article in Chinese | WPRIM | ID: wpr-662716

ABSTRACT

Objective To identify the morphology of arsenic in drinking water,by detecting arsenic in the drinking water within the endemic areas so as to determine the causes of arsenic through different forms of arsenic exposure.Methods The arsenic poisoning area and the high arsenic arsenic area in Taonan City and Tongyu County of Jilin Province were selected as the survey sites.The drinking water samples were collected,and the arsenic content and different arsenic species in the water samples were measured and analyze the relationship between well depth and water arsenic content.Resets A total of 161 arsenic water samples were tested,mainly in the form of inorganic arsenic;As5+ concentration was 0.004 to 0.226 mg/L,the median was 0.053 mg/L;the As3+ concentration was 0.004 to 0.309 mg/L,the median was 0.057 mg/L.Total arsenic content was in the range of 0.009 to 0.509 mg/L,the median was 0.100 mg/L.Monomethylated arsenic (MMA) was detected in 1 water sample with the content of 0.005 mg/L,dimethyl arsine (DMA) was detected in 1 water sample with the content of 0.014 mg/L.Totally 101 wells were surveyed with the depth of 13 to 75 meters.Totally 94 water samples had the water arsenic level of more than 0.05 mg/L,and most of them were detected in the well with the depth of more than 50 meters,which was accounted for 85.1% (80/94).Conclusions Arsenic mainly exists in the form of inorganic arsenic in drinking water,organic arsenic is only found in water at low concentrations.Excessive water arsenic is mainly distributed in wells deeper.

20.
Chinese Journal of Endemiology ; (12): 682-684, 2017.
Article in Chinese | WPRIM | ID: wpr-660595

ABSTRACT

Objective To identify the morphology of arsenic in drinking water,by detecting arsenic in the drinking water within the endemic areas so as to determine the causes of arsenic through different forms of arsenic exposure.Methods The arsenic poisoning area and the high arsenic arsenic area in Taonan City and Tongyu County of Jilin Province were selected as the survey sites.The drinking water samples were collected,and the arsenic content and different arsenic species in the water samples were measured and analyze the relationship between well depth and water arsenic content.Resets A total of 161 arsenic water samples were tested,mainly in the form of inorganic arsenic;As5+ concentration was 0.004 to 0.226 mg/L,the median was 0.053 mg/L;the As3+ concentration was 0.004 to 0.309 mg/L,the median was 0.057 mg/L.Total arsenic content was in the range of 0.009 to 0.509 mg/L,the median was 0.100 mg/L.Monomethylated arsenic (MMA) was detected in 1 water sample with the content of 0.005 mg/L,dimethyl arsine (DMA) was detected in 1 water sample with the content of 0.014 mg/L.Totally 101 wells were surveyed with the depth of 13 to 75 meters.Totally 94 water samples had the water arsenic level of more than 0.05 mg/L,and most of them were detected in the well with the depth of more than 50 meters,which was accounted for 85.1% (80/94).Conclusions Arsenic mainly exists in the form of inorganic arsenic in drinking water,organic arsenic is only found in water at low concentrations.Excessive water arsenic is mainly distributed in wells deeper.

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