[ ABSTRACT] AIM: To explore the relationship between FRAS 1 protein and brain metastases of non-small cell lung cancer (NSCLC).METHODS:The mRNA expression of FRAS1 in the brain metastatic tumor tissues and primary tumor tissues of NSCLC was detected by qPCR .The protein expression of FRAS 1 in the tumor tissues and normal tissues adjacent to tumor tissues of NSCLC was measured by SP method of immunohistochemistry .The protein expression of FRAS 1 in NSCLC primary tumor tissues with or without brain metastases was also determined .RESULTS:The mRNA expression of FRAS1 in the brain metastatic zone was nearly 10 times higher than that in the primary tumor tissues , and there was sig-nificant difference between the 2 groups (P<0.05).FRAS1 protein was expressed in the NSCLC primary tumor tissues , but was not found in the normal tissues adjacent to primary tumor tissues .The protein expression of FRAS 1 in the NSCLC with brain metastases was significantly higher than that without brain metastases ( P<0.01 ) .CONCLUSION: FRAS1 protein may be associated with the occurrence of NSCLC .The over-expression of FRAS1 protein may be related to brain metastases with NSCLC .

·AIM: To analyze the clinical manifestation of Alport syndrome, especially the ocular features.·METHODS: The physical, ophthalmologic and audiologic examination results of thirty two patients with Alport syndrome were analyzed retrospectively.·RESULTS: Thirty (93.7%) patients had some family history. All patients had renal disease: eighteen(56.3%) patients with chronic renal failure, four(12.5%) patients with renal insufficiency, and the other ten(31.3%) patients with hematuria. Twenty (62.5%) patients had sensorineural deafness. Thirteen (40.6%) patients had ocular deformity, five(15.6%) patients had typical ocular changes: three patients with anterior lenticonus, and two patients with macular flecks.·CONCLUSION: Ocular anomalies are not requisite for the diagnosis of Alport syndrome. But its typical ocular features should be recognized by the ophthalmologists which supports the diagnosis.

Adaptor Proteins, Signal Transducing ; genetics ; B-Cell CLL-Lymphoma 10 Protein ; Chromosomes, Human, Pair 11 ; genetics ; Chromosomes, Human, Pair 18 ; genetics ; Gene Rearrangement, B-Lymphocyte ; Humans ; In Situ Hybridization, Fluorescence ; methods ; Lymphoma, B-Cell, Marginal Zone ; genetics ; Paraffin Embedding ; Translocation, Genetic

OBJECTIVETo investigate the application of fluorescence in situ hybridization (FISH) technique in prenatal diagnosis of complex chromosomal abnormalities.

METHODSEleven prenatal diagnosis cases (8 from amniocentesis and 3 from cord blood) with complex chromosomal abnormalities detected by routine G-banding, were further analyzed by FISH.

RESULTSThe FISH technique confirmed the results of balanced chromosome rearrangements detected by G-banding, and clarified the structure of the derivative chromosomes in the 3 amniocentesis samples and the origin of the mark chromosomes in the 2 cord blood samples.

CONCLUSIONFISH can be used to diagnose the complex chromosomal abnormalities accurately in prenatal diagnosis, and can provide very useful genetic information for clinical diagnosis and treatment.

Amniotic Fluid ; chemistry ; Chromosome Aberrations ; Female ; Fetal Blood ; chemistry ; Humans ; In Situ Hybridization, Fluorescence ; methods ; Pregnancy ; genetics ; Prenatal Diagnosis ; methods

OBJECTIVETo explore the applications of fluorescence in situ hybridization (FISH) in the diagnosis for the patients with gonadal dysgenesis.

METHODSAfter routine gynecologic examination, ultrasonography and endocrine examination, 5 cases of gonadal dysgenesis and hypogonadism were analyzed by using chromosomal diagnoses including G-banding, Q-banding, multiplex FISH and BAC-FISH analyses.

RESULTSAmong the 5 cases of gonad agenesis patients, 2 were pure gonadal dysgenesis with 46, XY karyotype, 3 were mixed gonadal dysgenesis with mos 45, X/47, XXX; 45, X/46, XY or 46, X, der(Y) karyotype.

CONCLUSIONSex chromosomal abnormalities resulted in gonadal dysgenesis symptoms. Applications of FISH and BAC-FISH analyses can correctly diagnose the sex chromosomal abnormalities for patients with gonad agenesis and provide accurate medical genetic data for clinical diagnosis and therapy.

Adolescent ; Chromosomes, Artificial, Bacterial ; genetics ; Gonadal Dysgenesis ; diagnosis ; genetics ; pathology ; therapy ; Humans ; In Situ Hybridization, Fluorescence ; methods ; Karyotyping ; Male ; Sex Chromosome Aberrations

OBJECTIVETo study the gene characterization of enterovirus 71 (EV71) virus strains isolated from clinical specimens of children with hand-foot-and-mouth disease (HFMD) in Zhejiang province.

METHODSVirus were isolated from clinical samples including stool, throat swab and vesicle from patients with HFMD. The EV71 isolates were identified by microneutralization assay and reverse transcriptase PCR (RT-PCR) with specific primer pair for VP1 genes of EV71. Complete VP1 gene sequences (891 nucleotides) for recent 6 EV71 isolates were determined and compared with that of A, B, C genotype reference EV71 strains and 11 EV71 China isolates available from GeneBank by homogeneity and phylogenetic tree analyses.

RESULTS9 strains of EV were isolated from 14 clinical specimens. Data from microneutralization and RT-PCR results indicated that all the strains belong to EV71. The nucleotide and amino acid homogeneity of these 6 Zhejiang strains with the representative isolates of A and B genotypes were 82.9%-85.5% and 94.9%-98.0% respectively; with the representative isolates of C were 89.2%-94.1% and 97.0%-99.0% respectively. There were 91.0%-92.2%, 90.2%-90.3%, 89.2%-89.5%, 96.7%-96.9% nucleotide, homology with representative strains of C1, C2, C3,C4 subgenotypes of EV71. The nucleotide homogeneity of these 6 EV71 isolated strains with 9 previously isolated Chinese strains appeared to be 93.8%-97.1%. These 6 EV71 isolated strains were within genotype C subgenogroup C4 in the phylogenetic tree.

CONCLUSIONThe recently identified EV71 isolates in Zhejiang province belonged to subgenogroup C4.

Child ; China ; Enterovirus ; classification ; genetics ; isolation & purification ; Genes, Viral ; Genotype ; Hand, Foot and Mouth Disease ; virology ; Humans ; Phylogeny ; Reverse Transcriptase Polymerase Chain Reaction ; Sequence Homology, Amino Acid ; Sequence Homology, Nucleic Acid

Objecfive To study the molecular epidemioiogical characteristics of Norovirus gastroenteritis outbreaks in Zhejiang.Methods During January 2006 and December 2007.fecal specimens of patients collected from outbreaks of acute viml gastroenteritis were tcsted for Norovirus.Epidemiological data were also collected.Noroviruses were detected by a reverse transcription polymerase chain reaction(RT-PeR)and Real.time RT-PCR.Some positive samples were randomly selected and Rrr-PCR products were sequenced.Comparing to the nucleotide sequences of norovirus genotype Ⅰ,Ⅱ reference strains from GenBank,sequence analysis was undertaken based on partial sequence of RNA dependent RNA polymerase(RdRp)and capsid protein(VPI)gene.Results 5 Outbreaks of viral gastroenteritis caused bv Norovirus were reported.A total of 63 stools were obtained from cases with acute gastroenteritis.Noroviruses alone were detected in 45 cases and the illness appeared in autumn.Phylogenetic analysis revealed that Norovirus belonged to G Ⅱ/G Ⅱ 4 type.The strains isolated from Zhejiang were almost identical on G Ⅱ/4 variants that causing epidemics in Beijing and in the Netherlands with the homology of 99.7%and 98.5%-99.O%respectively.Phylogenetic analysis revealed that the isolates were located at the same branch as the norovirus G Ⅱ/4 variants found in Beijing and Netherlands.Conclusion Norovirus iS a major cause of outbreaks of viral gastroenterifis in Zhejiang province.GenogroupⅡ/4 variants viruses were the prevalent strains.

OBJECTIVETo diagnose chromosomal abnormalities in amniotic fluid cells by combining karyotyping and single nucleotide polymorphism array (SNP-array) analysis, and to explore the application of SNP-array in routine clinical practice.

METHODSConventional G banding was used to karyotype a fetal amniotic fluid sample and the corresponding peripheral blood samples from the parents, followed by SNP-array analysis of the fetal genomic DNA from the amniotic fluid.

RESULTSThe karyotype of the amniocytes was 47, XX, +mar. The marker chromosome was further identified as psu idic (22) (q11.2) by SNP-array analysis, revealing tetraploidy of a 1.7 Mb fragment in 22q11.1-q11.2 interval that involves the critical region for Cat eye syndrome.

CONCLUSIONA rare chromosomal abnormality was identified by combining conventional G banding and SNP-array. The high resolution SNP-array could provide more detailed information for determining the origin of chromosomal abnormalities.

Adult ; Amniotic Fluid ; cytology ; Aneuploidy ; Chromosome Disorders ; genetics ; Chromosomes, Human, Pair 22 ; genetics ; Eye Abnormalities ; genetics ; Female ; Humans ; Isochromosomes ; Karyotyping ; Polymorphism, Single Nucleotide ; Pregnancy ; Tetraploidy

Objective To study the molecular characteristic of norovirus in 3 outbreaks of gastroenteritis in Zhejiang province. Methods During January 2008 and December 2009, fecal specimens of patients were collected from 3 outbreaks of acute viral gastroenteritis. Noroviruses were detected by Real-time RT-PCR. Part of the positive samples were randomly selected and detected by RT-PCR. PCR products were sequenced. Sequence analysis was undertaken based on partial sequence of RNA dependent RNA polymerase(RdRp)and capsid protein gene. Some positive samples were amplified by 3' RACE(rapid amplification of cDNA 3' ends), 3200 bp in length. The exact whole ORF2, ORF3 and 3' untranslation regions(UTR)gene of norovims were identified. Results There were in total 3 outbreaks of viral gastroenteritis caused by norovirus being reported. A total of 62 stools were obtained from cases with acute gastroentefitis. Noroviruses were detected in 41 cases including 27 strains of genogroup Ⅰ norovirus and 9 strains of genogroup Ⅱ norovirus, 5 strains of genogroup Ⅰ + Ⅱ norovirus. Four genotypes including G Ⅰ .8, G Ⅱ .b, G Ⅰ .2/0 Ⅰ .6 recombination together with co-infection of G Ⅰ .8 and G Ⅱ .b were detected. Conclusion Norovirus was confirmed as the major cause of outbreaks of viral gastroenteritis in Zhejiang province and multiple genotype of norovirus were identified from the outbreaks. It was the first time to have found a recombinant of G Ⅰ .6 capsid and G Ⅰ .2 polymerase norovims as well as the co-infection of G Ⅰ .8 and G Ⅱ .b norovirus in the same sample.

The patient,a 42-year-old male,with a history of hepatitis B and membranous nephropathy,had inter-mittent fever and chills 12 days before admission.In the first 2 days after admission,the patient's condition aggra-vated with redness,swelling and pain in the left scrotum and perineum.Immediate surgical debridement was per-formed.The patient had a persistent low fever,with blood and pus cultures showing Candida albicans positive,thus was diagnosed fungal necrotizing fasciitis and pyomyositis.The patient was treated with echinocandins mica-fungin(150 mg,qd)for antifungal infection,and was given encroaching dressing change,hyperbaric oxygen thera-py,nutritional support,etc.Two months after surgery,the patient's condition improved and he was discharged.The early clinical symptoms of necrotizing fasciitis and pyomyositis caused by Streptococcus spp.infection lack spe-cificity,thus are prone to be delayed.For patients with concomitant immune diseases,attention should be paid to the prevention and early treatment of complex infection.The appropriate selection of empirical antifungal agents at the early stage has clinical significance.