Application of blended learning in Clinical Biochemistry / 中华医学教育探索杂志

Objective:To explore the role of blended learning in the undergraduate teaching of Clinical Biochemistry. Methods:The Batch 2017 medical laboratory technology undergraduates ( n=134) were selected as research objects, and the effect and opinions of blended learning were statistically analyzed by questionnaire survey and online-offline platform data. SPSS 23.0 was used to conduct rank sum test. Results:The application of blended learning in the Clinical Biochemistry teaching affected the learning effect in an all-round way. The average score increased from 70 (64, 76) to 79 (71, 85), with statistical difference ( Z=6.69, P<0.001). Conclusion:The combined application of blended learning, problem-based learning, flipped classroom and formative assessment is conducive to teaching students in accordance with their aptitude and cultivating students' clinical thinking ability.

Cytogenetic and molecular genetic analysis of three cases with small supernumerary marker chromosomes / 中华医学遗传学杂志

OBJECTIVE@#To delineate the origin and structure of 3 cases of small supernumerary marker chromosomes (sSMCs) through cytogenetic and molecular genetic analysis.@*METHODS@#Conventional G, C and N banding were carried out to analyze the chromosomal karyotypes. Chromosomal microarray analysis (CMA) and fluorescence in situ hybridization (FISH) were used to delineate the origin and structure of the sSMCs.@*RESULTS@#In case 1, chromosomal karyotype of peripheral blood sample was 47,XY,+mar. This de novo sSMC was a dual-satellited dicentric inverted duplicated marker chromosome, for which CMA yielded a normal result. It was predicted to not increase the risk of offspring. In case 2, the fetal chromosomal karyotype was 47,XY,+mar[17]/46,XY[33]. Chromosomal banding suggested that this de novo segment contained euchromatin, and the result of CMA was arr[hg19] 5p12q11.1(45 694 574-49 475 697) × 3. FISH showed the sSMC to be a fragment derived from 5p12 containing the HCN1 gene. Case 3 was found to have a fetal karyotype of 45,XY,-13[25]/46,XY,r(13)[18]/46,XY,-13,+mar[7]. Both parents had refused further examination.@*CONCLUSION@#Conventional chromosomal banding combined with molecular methods can delineate the origin and structure of the sSMCs, which can help with prediction of their pathogenicity and facilitate genetic counseling.

Genetic analysis of a 45,X male fetus / 中华医学遗传学杂志

OBJECTIVE@#To analyze the prenatal diagnosis procedure for a 45,X male fetus.@*METHODS@#A 31-year-old women underwent amniocentesis due to a moderate risk of trisomy 21. The fetal cells were subjected to chromosomal karyotyping, BACs-on-Beads (BoBs) assay, chromosomal microarray analysis and fluorescence in situ hybridization.@*RESULTS@#Combined analyses revealed that the whole of Yp has translocated to 21p, which yielded a fetal karyotype of 45,X,dic(Y;21)(q11;p11).ishdic(Y;21)(SRY+,CEPY+;CEP21+).@*CONCLUSION@#BoBs and modified N-banding method are helpful for the diagnosis of 45,X male fetus with Yp translocation.

Application of BACs-on-Beads in prenatal diagnosis / 中华医学遗传学杂志

OBJECTIVE@#To explore the value of BACs-on-Beads (BoBs) for the practice of prenatal diagnosis.@*METHODS@#The results of chromosomal karyotyping and BoBs of 1773 prenatal samples were compared. Microdeletions and microduplications detected by BoBs were subjected to chromosome microarray analysis (CMA) with informed consent from patients.@*RESULTS@#BoBs has detected 46 cases of common aneuploidies involving chromosomes 13, 18, and 21, and 16 cases involving X and Y chromosomes. For 4 fetuses with normal results by BoBs, karyotyping analysis of amniotic fluid sample suggested low percentage mosaicisms (< 20%). BoBs has detected none of the 9 common microdeletions, but 14 male fetuses with Xp22 microdeletions and 5 with other microdeletions/microduplications. In 10 cases, the couples had chosen CMA verification, and the results were all consistent.@*CONCLUSION@#As a rapid diagnostic technique, BoBs has a high accuracy for common aneuploidies, and is capable of discovering certain chromosome microdeletions and microduplications. The difficulty lies in the inability to detect low proportion mosaicisms and the consultation following detection for male fetuses carrying Xp22 microdeletions.

Study of two cases of prenatally detected small supernumerary marker chromosomes / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To determine the origin of two prenatally detected small supernumerary marker chromosomes (sSMCs).</p><p><b>METHODS</b>The sSMCs were analyzed with combined G-banding, C-banding, fluorescence in situ hybridization (FISH), and single nucleotide polymorphisms array (SNP-array) techniques.</p><p><b>RESULTS</b>In case 1, G-banding analysis has identified a 47,XY,+mar karyotype. Affymetrix CytoScan 750K Array scan has suggested arr 15q11.2q12(22 770 421-26 604 587)?, while FISH analysis suggested 47,XN,+mar.ish i(15)(q12)(D15Z1+,SNRPN++,PML-). In case 2, G-banding analysis has suggested 46,X,+mar/46,XY, FISH analysis showed two SRY hybridization signals, indicating 46,X,i(Y)(p10)/46,XY.</p><p><b>CONCLUSION</b>Multiple techniques needed be applied for verification of the origin of sSMCs identified in prenatal diagnosis.</p>

Application of modified three-step fluorescence in situ hybridization in prenatal diagnosis / 中华检验医学杂志

Objective To investigate a simple and efficient fluorescence in situ hybridization method for prenatal diagnosis.Methods Thirty-six cases of chorionic villus samples were hybridized with probes 18/X/Y,13/21 by using traditional cuhure methods and modified three-step methods in controlled experimentation during 2012 to 2013.The hybridization rate and fluorescence signals were analyzed.Results A total of 72 hybrid zone were detected.Probe 21/13 hybridization rate and fluorescence signals of three-step modified methods were higher than that of traditional methods(99.72％ ±0.42％ vs 85.90％ ±4.15％,t =20.4,P ＜0.01; 2.58 ±0.50 vs 1.52 ± 0.55,t =7.53,P ＜0.01).Probe 18/X/Y has the same hybridization rate and fluorescence signals between three-step modified methods and traditional methods (99.57％ ±0.53％ vs99.70％ ±0.42％,t=1.30,P＞0.05; 2.22±0.42 vs2.36±0.48,t=1.57,P＞0.05).The coincidence rate of two methods was 100％ (36/36).Conclusion The modified fluorescence in situ hybridization three-step methods in the study was simple,rapid,effective and environment-friendly.At the same time,it has some defects such as the signals of 18/X/Y was not concentrated enough.Further exploration is needed.