1.Optical Nano-imaging for the Diagnosis of Gastrointestinal Cancers.
The Korean Journal of Gastroenterology 2007;49(5):287-293
Development of in vivo animal imaging instrumentations and methods contributes to the early diagnosis of cancer. Of variable imaging modalities, in vivo optical imaging such as bioluminescence and fluorescence is one of the best methods to measure molecular change of cancer cells. High sensitivity and relatively low cost of optical method gives benefits to apply for translational research in the field of cancer. Nano-probes to label and detect early cancer cells have been developed by nano-chemists and molecular imaging researchers. Quantum dots made from fluorescent semi-conductors show good advantages in term of imaging probes; high quantum yields, large molar extinction coefficients, size-dependent tunable emission and high photostability. To detect a gastrointestinal (GI) cancer, newly developed endoscopes have been used. Among them, near infrared fluorescence endoscope and confocal endomicroscope are good candidates for clinical application. In animal studies, successful results to detect cancer in gastrointestinal tract have been obtained. Prospect of nanoparticles as optical imaging moiety is promising to detect GI cancers if their toxicity is minimized. Future fluorescence confocal endoscope with safe cancer targeting nanoparticles will be useful for the detection and treatment of GI cancers.
Diagnostic Imaging
;
Endoscopy, Gastrointestinal/*methods
;
Fluorescent Dyes/*diagnostic use
;
Gastrointestinal Neoplasms/*diagnosis
;
Humans
;
Molecular Diagnostic Techniques
;
Nanoparticles/*diagnostic use
4.Opportunity and challenge of diagnostic pathology in China.
Chinese Journal of Pathology 2005;34(8):466-467
5.Genotype analysis and personalized medicine.
Chinese Journal of Pathology 2011;40(10):651-654
7.Molecular Genetic Analysis of One Sudden Unexplained Death in the Young by Whole Exome Sequencing.
Chun WANG ; Hui WANG ; Xin-shu XU ; Chuan-chao XU ; Xiao-ping LAI ; Rui CHEN ; Han-guang LIN ; Sheng-yuan QIU
Journal of Forensic Medicine 2015;31(6):436-444
OBJECTIVE:
To find the mutation of disease-causing genes of sudden unexplained death syndrome (SUDS) in the young by whole exome sequencing in one case.
METHODS:
One SUDS case was found no obvious fatal pathological changes after conventional autopsy and pathological examination. The whole exome sequencing was performed with the Ion Torrent PGM™ System with hg19 as reference sequence for sequencing data. The functions of mutations were analyzed by PhyloP, PolyPhen2 and SIFT. A three-step bioinformatics filtering procedure was carried out to identify possible significative single nucleotide variation (SNV), which was missense mutation with allele frequency < 1% of myocardial cell.
RESULTS:
Four rare suspicious pathogenic SNV were identified. Combined with the analysis of conventional autopsy and pathological examination, the mutation MYOM2 (8_2054058_G/A) was assessed as high-risk deleterious mutation by PolyPhen2 and SIFT, respectively.
CONCLUSION
Based on the second generation sequencing technology, analysis of whole exome sequencing can be a new method for the death cause investigation of SUDS. The gene MYOM2 is a new candidate SUDS pathogenic gene for mechanism research.
Autopsy
;
Brugada Syndrome/genetics*
;
Cause of Death
;
DNA Mutational Analysis/methods*
;
Death, Sudden/etiology*
;
Exome
;
Gene Frequency
;
Genetic Testing/methods*
;
High-Throughput Nucleotide Sequencing/methods*
;
Humans
;
Molecular Biology
;
Molecular Diagnostic Techniques/methods*
;
Molecular Sequence Data
;
Mutation
8.Clinical cytogenetics and molecular cytogenetics.
Journal of Zhejiang University. Science. B 2006;7(2):162-163
The short report will be focused on helping our students to understand commonly used conventional and cutting edge cytogenetic techniques and their clinical applications, the advances and drawbacks of each technique, and how to pick the right test(s) for a specific patient in order to achieve a proper diagnosis efficiently and economically.
Chromosomes
;
ultrastructure
;
Cytogenetic Analysis
;
Cytogenetics
;
methods
;
Genetic Techniques
;
Humans
;
In Situ Hybridization, Fluorescence
;
Molecular Diagnostic Techniques
;
Nucleic Acid Hybridization
;
Oligonucleotide Array Sequence Analysis
;
Translocation, Genetic
9.DNA Extraction from Protozoan Oocysts/Cysts in Feces for Diagnostic PCR.
The Korean Journal of Parasitology 2014;52(3):263-271
PCR detection of intestinal protozoa is often restrained by a poor DNA recovery or by inhibitors present in feces. The need for an extraction protocol that can overcome these obstacles is therefore clear. QIAamp(R) DNA Stool Mini Kit (Qiagen) was evaluated for its ability to recover DNA from oocysts/cysts directly from feces. Twenty-five Giardia-positive, 15 Cryptosporidium-positive, 15 Entamoeba histolytica-positive, and 45 protozoa-free samples were processed as control by microscopy and immunoassay tests. DNA extracts were amplified using 3 sets of published primers. Following the manufacturer's protocol, the kit showed sensitivity and specificity of 100% towards Giardia and Entamoeba. However, for Cryptosporidium, the sensitivity and specificity were 60% (9/15) and 100%, respectively. A series of optimization experiments involving various steps of the kit's protocol were conducted using Cryptosporidium-positive samples. The best DNA recoveries were gained by raising the lysis temperature to the boiling point for 10 min and the incubation time of the InhibitEX tablet to 5 min. Also, using a pre-cooled ethanol for nucleic acid precipitation and small elution volume (50-100 microl) were valuable. The sensitivity of the amended protocol to Cryptosporidium was raised to 100%. Cryptosporidium DNA was successfully amplified by either the first or the second primer set. When applied on parasite-free feces spiked with variable oocysts/cysts counts, approximately 2 oocysts/cysts were theoretically enough for detection by PCR. To conclude, the Qiagen kit with the amended protocol was proved to be suitable for protozoan DNA extraction directly from feces and support PCR diagnosis.
DNA, Protozoan/*isolation & purification
;
Feces/*parasitology
;
Humans
;
Molecular Diagnostic Techniques/*methods
;
Polymerase Chain Reaction/*methods
;
Protozoan Infections/*diagnosis
;
Sensitivity and Specificity
;
Specimen Handling/*methods
;
Spores, Protozoan/*genetics
10.Technologies of differential gene expression analysis and applications in research of ischemic heart diseases.
Chun-Yu GUO ; Hui-Jun YIN ; Da-Zhuo SHI
Chinese Journal of Integrated Traditional and Western Medicine 2007;27(6):569-572
In the post-genome era, the emphasis of the human genome project (HGP) is transferred to the study of functional genomics, which has become the hotspots of modern medicine. Studies on mechanism of various diseases could be deepened with the progressing of differential gene expression analysis technique. By taking the study on ischemic heart diseases as an example, the development of differential gene expression analysis technique and its application were reviewed.
Biomedical Research
;
methods
;
trends
;
Expressed Sequence Tags
;
Gene Expression Profiling
;
methods
;
Genomics
;
instrumentation
;
methods
;
Humans
;
Molecular Diagnostic Techniques
;
Myocardial Ischemia
;
diagnosis
;
genetics
;
Oligonucleotide Array Sequence Analysis