1.Clinical significance of peritoneal and retroperitoneal edema in patients with decompensated cirrhosis as demonstrated by CT scan
Yanshan XUE ; Jun WANG ; Xinwen WANG
Chinese Journal of Radiology 2001;0(05):-
Objective To investigate the clinical significance of peritoneal and retroperitoneal edema in patients with decompensated cirrhosis(DCC). Methods Forty-four patients were identified with DCC on the basis of clinic and laboratory examinations, except the cases with mesenteric,omental and retroperitoneal edema caused by inflammatory and malignant diseases. The diagnosis of edema depended upon hyperdensity in peritoneal and retroperitoneal. The degree of edema was divided into minor, middle, and sever types based on the extent of edema. Ascites, varices, serum albumin(ALB) levels, and hyaluronicacid(HA) levels were also documented. Correlations between the laboratory and CT findings were analyzed. Results The severity of peritoneal edema was correlated with decreasing serum ALB( r s =0.708 8, P 0.05). Conclusion CT findings of the edema in peritoneal and retroperitoneal may indicate the severity of the liver cirrhosis.
2.Advances of studies on traditional moxibustion therapy for treatment of cancer.
Jia-lin SONG ; Feng-jie FAN ; Zhi-ping HAN ; Wen-xue HONG
Chinese Acupuncture & Moxibustion 2006;26(3):227-229
In recent years, the studies on moxibustion for treatment of cancer are increasing day by day, with some advances. In the paper, clinical and experimental studies on traditional moxibustion for treatment of cancer and the mechanisms are reviewed, and some problems and shortcomings are put forward.
Acupuncture Therapy
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Humans
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Moxibustion
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Neoplasms
3.Adrenomedullin reduces intracellular calcium concentration in cultured hippocampal neurons.
Shu-Mei JI ; Jian-Mei XUE ; Chuan WANG ; Su-Wen SU ; Rui-Rong HE
Acta Physiologica Sinica 2005;57(3):340-345
The effects of adrenomedullin (ADM) on intracellular calcium concentration ([Ca(2+)](i)) were investigated in cultured hippocampal neurons. Changes in [Ca(2+)](i) were detected by laser scanning confocal microscopy using Fluo 3-AM as the calcium fluorescent probe. [Ca(2+)](i) was represented by relative fluorescent intensity. The results showed that: (1) ADM (0.01-1.0 micromol/L) decreased the resting [Ca(2+)](i) in a concentration-dependent manner. (2) Calcitonin gene-related peptide receptor antagonist CGRP(8-37) significantly inhibited the effects of ADM. (3) ADM significantly reduced the increase in [Ca(2+)](i) induced by high K(+). (4) ADM markedly inhibited the inositol 1,4,5-trisphosphate (IP(3))-induced increase in [Ca(2+)](i), while did not influence ryanodine-evoked increase in [Ca(2+)](i). These results suggest that ADM reduces [Ca(2+)](i) in cultured hippocampal neurons through suppressing Ca(2+) release from IP(3)-sensitive stores. Although ADM does not alter resting Ca(2+) influx, it significantly suppresses Ca(2+) influx activated by high K(+). These effects may be partly mediated by CGRP receptors. ADM in the CNS may act as a cytoprotective factor in ischemic/hypoxic conditions.
Adrenomedullin
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Animals
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Animals, Newborn
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Calcitonin Gene-Related Peptide
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metabolism
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Calcium
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metabolism
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Cells, Cultured
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Embryo, Mammalian
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Hippocampus
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cytology
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metabolism
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Inositol 1,4,5-Trisphosphate
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antagonists & inhibitors
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Neurons
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cytology
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metabolism
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Peptides
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pharmacology
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Rats
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Rats, Sprague-Dawley
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Receptors, Calcitonin Gene-Related Peptide
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antagonists & inhibitors
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metabolism
4.Rapid detection of common ATP7B mutations in Wilson disease by high resolution melting analysis.
Xiuli ZHAO ; Yanshan LIU ; Shangzhi HUANG ; Yan MENG ; Miao SUN ; Wei YANG ; Xue ZHANG
Chinese Journal of Medical Genetics 2008;25(5):515-519
OBJECTIVETo detect the most prevalent mutations, R778L and P992L of ATP8B gene, in Chinese Wilson disease(WD) patients by high resolution melting (HRM) analysis after polymerase chain reaction (PCR).
METHODSGenomic DNA was extracted from peripheral blood samples obtained from 30 cases of WD by the standard phenol/chloroform method. DNA fragments encompassing ATP7B exons 8 and 13 were produced by PCR amplification. The amplicons containing the R778L or P992L mutations were then generated by nested PCR. The nested PCR products were subjected to HRM analysis using the HR-1 instrument. Mutations detected in HRM analysis were verified by restriction analysis using restriction enzyme (MspI or AluI or AfaI) or DNA sequencing.
RESULTSHRM analysis of the fragments encompassing ATP7B exon 8 showed four curve patterns. Subsequent restriction analysis and DNA sequencing proved that the four different curves represent four different genotypes: the wild type, the R778L/R778L homozygote, the R778L heterozygote, and the R778L/752.33delG compound heterozygote. Three HRM curve patterns were observed for the fragments encompassing ATP7B exon 13, representing the wild type, the P992L heterozygote, and the P992L/S975Y compound heterozygote. In our studied samples, allele frequencies of the R778L, P992L and S975Y mutations were 25%, 15% and 1.67%, respectively.
CONCLUSIONHRM analysis is a simple, accurate and sensitive approach for rapid detection of the ATP7B mutations and could be used as an optimized method for genetic testing in WD.
Adenosine Triphosphatases ; genetics ; Base Sequence ; Cation Transport Proteins ; genetics ; Copper-transporting ATPases ; DNA ; genetics ; metabolism ; DNA Mutational Analysis ; methods ; DNA Restriction Enzymes ; metabolism ; Exons ; genetics ; Freezing ; Gene Frequency ; Genotype ; Hepatolenticular Degeneration ; genetics ; Humans ; Nucleic Acid Denaturation ; Polymerase Chain Reaction ; Time Factors
5.Identification of a novel mutation of DSPP gene in a Chinese family affected with dentinogenesis imperfecta shields type II.
Yanshan LIU ; Yingzhi HUANG ; Jinsong GAO ; Shan LI ; Xiuli ZHAO ; Xue ZHANG
Chinese Journal of Medical Genetics 2016;33(1):34-37
OBJECTIVETo identify the causative mutation in a Chinese family affected with dentinogenesis imperfecta shields type II (DGI-II).
METHODSWith informed consent obtained from all participants, peripheral blood or chorionic villi samples were collected from the family members. Genomic DNA was extracted using a standard SDS-proteinase K-phenol/chloroform method. The whole coding region and exon/intron boundaries of the DSPP gene were amplified with polymerase chain reaction (PCR) and subjected to Sanger sequencing. To confirm the pathogenicity of the identified mutation, an Alu I recognition sequence was introduced into the mutant allele using mismatch primers by semi-nested PCR. Restriction fragment length polymorphism (RFLP) analysis was then carried out for all family members and 60 unrelated healthy controls. Meanwhile, mini-DSPP constructs were conducted to confirm the effect of the mutation in vitro.
RESULTSA splicing site mutation, c.52-1G>A, which was located upstream of exon 3, was found in all three patients and the fetus of the proband. Restriction analysis confirmed that all unaffected individuals and the 60 healthy controls did not carry the same mutation. The expression of minigene showed that the exon 3 of the DSPP gene was skipped during the transcription.
CONCLUSIONA novel pathogenic splicing-mutation c.52-1G>A has been detected in a Chinese family affected with DGI-II, which enabled prenatal diagnosis for the fetus of the proband.
Adult ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; Child, Preschool ; Dentinogenesis Imperfecta ; genetics ; Exons ; Extracellular Matrix Proteins ; genetics ; Female ; Humans ; Male ; Molecular Sequence Data ; Pedigree ; Phosphoproteins ; genetics ; Point Mutation ; RNA Splicing ; Sialoglycoproteins ; genetics