Objective Toexplorethevalueofmulti-parameterquantitativeanalysisofspectralCTimaging (GSI)indifferentiatingrenal fat-poorangiomyolipoma(fpAML)andchromophobecellrenalcarcinoma(CCRC).Methods 42patientswithrenaltumor,including 25caseswithfpAMLand17caseswithCCRC,wereretrospectivelyanalyzed.Allofthem werescannedinGSImode.Themorphology differencesbetweenthefpAMLgroupandtheCCRCgroupwereanalyzed.GSIViewersoftwarewasusedtocalculatetheiodineconcentration (IC),thenormalizediodineconcentration(NIC),thesloperateofthespectrumenergycurveinthecorticalphase(CP)andmedullaryphase (MP),respectively.Thedifferencesofthoseparameterswerecomparedbetweenthetwogroupsusingthetwo-simplettest.Results Somecharacteristicsigns,suchas"blackspots"sign,cracksignandnecrosishadthevaluefordifferentialdiagnosis.IntheCP,theIC ofthefpAMLandCCRCgroupwere30.20±5.25vs19.97±4.01,theNICswere0.45±0.10vs0.32±0.06,andthesloperatesof spectrumenergycurveswere3.45±1.23vs2.42±0.48,respectively.IntheNP,theICofthefpAMLandCCRCgroupwere27.84± 8.07vs22.94±4.46,theNICswere0.58±0.17vs0.46±0.11,andthesloperatesofthespectrumenergycurveswere3.24±1.25vs 2.69±0.47,respectively.Thereweresignificantdifferencesbetween2groups(P<0.05).TheNICintheCPprovidedhighsensitivity (75%)andspecificity(86%)indifferentiatingfpAMLfrom CCRC,andtheareaundertheROCcurvewas0.886.Conclusion The focalcysticandnecrotic,enhanceduniformityanddegree,"blackspots"sign,cracksignand multi-parametersofGSI,includingIC, NIC,andthesloperateofthespectrumenergycurvecouldplayimportantroleindifferentialdiagnosisbetweenfpAMLandCCRC.

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 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 investigate drug resistance gene in Mycoplasma pneumoniae(MP) and the distribution of 13 respiratory pathogens in bronchoalveolar lavage fluid(BALF) of children with Mycoplasma pneumoniae pneumonia(MPP).Methods:A total of 100 BALF of children with MPP in Peking University Third Hospital and Peking University First Hospital from January 2018 to January 2019 were collected.Fluorogenic quantitative PCR was used to detect nucleic acid and it′s drug resistance gene of MP and multiple PCR method was adopted to detect influenza A virus, influenza A virus-H 1N 1, influenza A virus-H 3N 2, influenza B, human parainfluenza virus, adenovirus, human bocavirus, human rhinovirus, Chlamydia pneumoniae, human metapneumovirus, MP, human coronavirus, and respi-ratory syncytial virus gene, and the results were compared by using Chi square test. Results:In 100 BALF samples, MP and drug resistance gene were detected by fluorogenic quantitative PCR.Totally, 83 cases (83.00%) were MP positive and 78 cases (93.98%) were drug resistant.All of them had the point mutations A2063G in V region of 23S rRNA domain.A total of 13 kinds of respiratory pathogens were detected by multiplex PCR method, and 89 cases (89.00%) were positive.Totally, 79 cases (79.00%) were MP positive, of which 74 cases (74.00%) detected only MP, and 5 cases (5.00%) detected MP combined with other pathogens.Other pathogens were detected in 10 cases (10.00%). The virus detection rate of 0-4 years old group was higher than that of >4-6 years old group ( P=0.042) and >6 years old group ( P=0.002), and the differences were statistically significant. Conclusions:MP can be detected in most BALF samples of MPP children, the drug resistance phenomenon is serious, and the main point mutation is A2063G.There were other respiratory pathogens and 2 or 3 pathogens were detected in a small number of BALF samples.