Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 7 de 7
Filter
Add filters








Language
Year range
1.
Article in Chinese | WPRIM | ID: wpr-921981

ABSTRACT

OBJECTIVE@#To explore the genetic basis for a girl with febrile convulsion as the main manifestation.@*METHODS@#The child was subjected to whole exome sequencing (WES) and copy number variation sequencing(CNV-seq). Fluorescence quantitative PCR was carried out to validate the microdeletion in her family.@*RESULTS@#The 7-year-old girl was diagnosed with febrile convulsion (complex type) for having fever for 3 days, mild cough and low thermal convulsion once. Her father, mother and aunt also had a history of febrile convulsion. A heterozygous deletion with a size of approximately 1.5 Mb was detected in the 16p13.11 region by WES and CNV-seq. The deletion has derived from her father and was confirmed by fluorescence quantitative PCR.@*CONCLUSION@#16p13.11 microdeletion syndrome has significant clinical heterogeneity. Different from those with epilepsy, mental retardation, autism, multiple malformations, carriers of 16p13.11 deletion may only manifest with febrile convulsion. Deletion of certain gene(s) from the region may be related to febrile convulsion and underlay the symptom of this child.


Subject(s)
Child , DNA Copy Number Variations , Epilepsy , Female , Humans , Seizures/genetics , Seizures, Febrile/genetics , Whole Exome Sequencing
2.
Article in Chinese | WPRIM | ID: wpr-687263

ABSTRACT

Raffinose series oligosaccharides are the transport and storage sugars of many plants, Rehmannia glutinosa is one of the commonly used Chinese herbal medicines, medicinal parts ist he roots. Root and tuber of R. glutinosa contains stachyose, raffinose and other oligosaccharides, but the study about the process of growth and development of other organs in the non-structural changes in sugar content is rare.In this study, leaves, stems and roots of R. glutinosa were used as materials to analyze the diurnal variation and the changes of sugar content of sucrose, raffinose and stachyose in different organs of R. glutinosa. The results showed that the content of sucrose in R. glutinosa leaves gradually increased from seedling stage.However, the content of stachyose did not change much at the early stage of growth, and the stachyose rapidly increased at the later stage of growth. The raffinose content gradually decreased throughout the growing season, young leaves of R. glutinosa have higher ability to sucrose synthesis than mature leaves, while mature leaf has higher raffinose and stachyose synthesis ability than young leaves. Sucrose and stachyose content in stem gradually increased, while there was little change in raffinose content. The content of raffinose and stachyose in root increased rapidly from the beginning of fast growing period, while the content of sucrose did not change much. The content of sucrose in leaves of R. glutinosa did not change much at day and night, while the daily changes of raffinose and stachyose contents were very obvious. The contents of raffinose and stachyose in daytime were higher than those at night. The content of raffinose in root and stem was not changed much, but the change of stachyose in root, stem and leaf was very obvious, especially in stem and leaf. In summary, the leaf is the main synthetic organ of raffinose, leaves, stems and roots are stachyose synthesis organ. Sucrose, raffinose and stachyose are the major transport forms of carbohydrates in R. glutinosa.

3.
Article in Chinese | WPRIM | ID: wpr-256045

ABSTRACT

To investigate the chemical compounds from the roots of Actinidia rufa, nine compounds were isolated by various column chromatography on silica gel and Sephadex LH-20, and high performance liquid chromatography (HPLC). Their structures were elucidated as 2α, 3β, 19α, 23, 24-pentahydroxyurs-12-en-28-oic acid-28-O-β-D-glucopyranoside (1), 2α, 3α, 19α, 24-tetrahydroxyurs-12-en-28-oic acid-28-O-β-D-glucopyranoside (2), 2α, 3α, 24-trihydroxyurs-12-en-28-oic acid (3), 2α, 3α, 24-trihydroxyolean-12-en-28-oic acid (4), 2α, 3α, 23, 24-tetrahydroxyurs -12-en-28-oic acid (5), 2α, 3β, 23, 24-tetrah-ydroxyurs-12-en-28-oic acid (6), 2α, 3β, 23-trihydroxy-12-en-28-oic acid (7), 2α, 3β, 23-trihydroxyurs-12, 20(30)-dien-28-oic acid (8), and 2α, 3α, 23-trihydroxyurs-12, 20(30)-dien-28-oic acid (9). Compounds 1 and 2 were isolated from the Actinidia genus for the first time. Compounds 2, 3, and 4 showed cytotoxic activity against human SKVO3 and TPC-1 cancer cell lines with IC₅₀ values ranging from 10.99 to 16.41 μmol•L⁻¹, compounds 3 and 4 have cytotoxic activity against human HeLa cancer cell line with IC₅₀ values of 15.53 and 13.07 μmol•L⁻¹, respectively.

4.
Acta Pharmaceutica Sinica ; (12): 1451-1456, 2014.
Article in Chinese | WPRIM | ID: wpr-299112

ABSTRACT

To evaluate the differences of Ophiopogonjaponicus from different cultivations, the metabolomics based method was conducted to compare the effects of Hangmaidong and Chuanmaidong (Chinese name) on plasma endogenous metabolites of normal rats. Data were collected by ultra performance liquid chromatography quadrupole time of flight mass spectrometry (UPLC-Q-TOF/MS), and were analyzed by multivariate statistical method, such as Principal Component Analysis and Orthogonal Signal Correction Partial Least Square Discriminant Analysis. Results revealed that the plasma metabolites profiling of low and middle dose group of Chuanmaidong were similar to the control group, but different from the high dose group obviously. Meanwhile the high, middle and low dose groups of Hangmaidong were different from control group notably, and the difference is dose dependent. Lysophosphatidylcholines, the possible endogenous metabolites which contribute to the classification most significantly, are closely related to cardiovascular system diseases. Compared with the group of Chuanmaidong, Hangmaidong has greater impact on the plasma metabolic profiling of normal rats. Hangmaidong and Chuanmaidong showed significant differences pharmacodynamically.


Subject(s)
Animals , Biomarkers , Chromatography, High Pressure Liquid , Drugs, Chinese Herbal , Pharmacology , Least-Squares Analysis , Mass Spectrometry , Metabolomics , Principal Component Analysis , Rats
5.
Acta Pharmaceutica Sinica ; (12): 1451-6, 2014.
Article in Chinese | WPRIM | ID: wpr-457238

ABSTRACT

To evaluate the differences of Ophiopogonjaponicus from different cultivations, the metabolomics based method was conducted to compare the effects of Hangmaidong and Chuanmaidong (Chinese name) on plasma endogenous metabolites of normal rats. Data were collected by ultra performance liquid chromatography quadrupole time of flight mass spectrometry (UPLC-Q-TOF/MS), and were analyzed by multivariate statistical method, such as Principal Component Analysis and Orthogonal Signal Correction Partial Least Square Discriminant Analysis. Results revealed that the plasma metabolites profiling of low and middle dose group of Chuanmaidong were similar to the control group, but different from the high dose group obviously. Meanwhile the high, middle and low dose groups of Hangmaidong were different from control group notably, and the difference is dose dependent. Lysophosphatidylcholines, the possible endogenous metabolites which contribute to the classification most significantly, are closely related to cardiovascular system diseases. Compared with the group of Chuanmaidong, Hangmaidong has greater impact on the plasma metabolic profiling of normal rats. Hangmaidong and Chuanmaidong showed significant differences pharmacodynamically.

6.
Article in Chinese | WPRIM | ID: wpr-441006

ABSTRACT

[Objective]Summary of massage and composite therapy efficacy in the treatment of buttock epithelial neuritis, to explore the effective treatment of buttock epithelial neuritis.[Methods] To summarize the recent ten years related data on reports of buttock epithelial neuritis massage and combined thera-py.[Results] Single massage treatment can play a certain effect, but compared with the complex therapy, combined therapy effect is more remarkable. Com-bined therapy is the treatment of massage, acupuncture, acupotomy plus drug injection. Data showed that in addition to massage plus smal needle knife therapy and other complex therapy, the total effective rate was 100%.[Conclusion] Inflammation of buttock epithelial neuritis massage and composite thera-py is stable, and suitable for al ages, with fast recovery, less side effect, it can offer reasonable evidence-based foundation for clinical treatment.

7.
Article in Chinese | WPRIM | ID: wpr-686755

ABSTRACT

It is crucial to improve the health care quality during the progress of constructing the new health care system in both urban and rural area.On the condition of increasing government commonweal investment for the basic health care,the standardized training program for the district medical practitioners will become the pivotal step to improve district health care in urban and rural area,standardize medical service,reduce the medical cost and optimize the accessibility to medical care for the mass.Taking the consideration on the personal resource of district medical service in the urban and rural area in China,certain strategic proposals related to the standardized training program for the fundamental medical practitioners are discussed.

SELECTION OF CITATIONS
SEARCH DETAIL