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

Diagnostic Imaging ; methods ; Genes, Neoplasm ; High-Throughput Screening Assays ; Humans ; Molecular Diagnostic Techniques ; Molecular Targeted Therapy ; Neoplasms ; genetics ; pathology ; therapy ; Pathology, Molecular ; methods ; Precision Medicine ; methods

Autopsy ; China ; Diagnosis, Differential ; Humans ; Immunohistochemistry ; Molecular Biology ; Molecular Diagnostic Techniques ; methods ; Pathology, Clinical ; methods ; organization & administration

Humans ; Molecular Diagnostic Techniques ; Neoplasms ; pathology ; Pathology, Molecular ; methods ; trends ; Pathology, Surgical ; methods ; trends ; Translational Medical Research

Communicable Diseases ; genetics ; Genetic Diseases, Inborn ; genetics ; Genetic Testing ; Genotype ; Genotyping Techniques ; Humans ; Molecular Diagnostic Techniques ; Precision Medicine ; methods ; trends

Bacterial Typing Techniques ; methods ; Communicable Diseases ; diagnosis ; microbiology ; virology ; Epidemiologic Methods ; Humans ; Molecular Diagnostic Techniques ; methods ; Oligonucleotide Array Sequence Analysis ; methods

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

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

OBJECTIVETo explore the feasibility of using single cell fluorescent polymerase chain reaction (PCR) in the preimplantation genetic diagnosis (PGD).

METHODSingle buccal cell genetic analysis was performed with fluorescent PCR of linked microsatellite D16S423, followed by electrophoresis on ABI 3730.

RESULTThe amplification success rate, allele dropout rate, and diagnostic accuracy rate of the single cell fluorescent PCR were 93.3%, 10.7%, and 89.3%, respectively.

CONCLUSIONSingle cell fluorescent PCR is a stable and reliable approach for the PGD.

Female ; Fluorescent Dyes ; Humans ; Molecular Diagnostic Techniques ; methods ; Pedigree ; Polycystic Kidney Diseases ; diagnosis ; genetics ; Polymerase Chain Reaction ; methods ; Pregnancy ; Preimplantation Diagnosis ; methods

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