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OBJECTIVE@#To discuss the advantages and technical limitations of various molecular genetic techniques in the diagnosis of two infants featuring all-round developmental retardation.@*METHODS@#The two patients were initially screened by using chromosomal microarray analysis (CMA). For patient 1, his parents were also subjected to CMA analysis, and the data was analyzed by using ChAS and UPD-tool software. For patient 2, methylation-specific PCR (MS-PCR) was carried out.@*RESULTS@#Patient 1 was diagnosed with maternal uniparental disomy (UPD) type Prader-Willi syndrome (PWS) by CMA and UPD-tool family analysis. His chromosomes 15 were of maternal UPD with homology/heterology. Patient 2 was diagnosed with deletion type PWS by combined CMA and MS-PCR.@*CONCLUSION@#Correct selection of laboratory methods based on the advantages and limitations of various molecular techniques can help with diagnosis of genomic imprinting disorders and enable better treatment and prognosis through early intervention.
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<p><b>OBJECTIVE</b>To analyze a fetus with abnormal cardiac ultrasound by using various techniques and explore its genotype-phenotype correlation.</p><p><b>METHODS</b>Lymphocytes derived from umbilical cord blood sample were subjected to G-banding analysis. Short tandem repeats quantitative fluorescence PCR (STR-QF-PCR) was used for analysis of fetal DNA as an auxiliary test. Low-coverage whole genome sequencing (WGS) was used to detect chromosomal deletion/duplication which exceeded 100 kb in size.</p><p><b>RESULTS</b>The karyotype of the fetus was 47,XN,+mar. As detected by STR-QF-PCR, the copy number of GATA178F11 locus on chromosome 18 was 4, and the duplicated fragment was derived from the mother. WGS suggested that the fetus to be 46,XN,dup(18p11.21p11.32).seq [GRCh37/hg19](10 001-15 378 887)× 4, with the duplicated fragment spanning approximately 15.38 Mb.</p><p><b>CONCLUSION</b>The cardiac malformation of the fetus may be attributed to the partial duplication of chromosome 18p. Combined cytogenetic and molecular methods can facilitate prenatal detection of genetic abnormalities.</p>
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Background and purpose:Lung cancer is the one with the highest incidence tumors, is mainly appeared to be non-small cell lung cancer(NSCLC). The main treatment method is chemotherapy. However, it is controversial whether using chemotherapy in the patients of advanced NSCLC. The present study aimed to observe the efifcacy and toxicity of pemetrexed contrast to the best supportive care in the NSCLC patients of ECOG=2 and older than 70.Methods:A total number of 84 patients of ECOG=2 and older than 70 with advanced NSCLC were randomly assigned into two groups. The study group accepted pemetrexed, 500 mg/m2,every 3 weeks as a cycle, and the control group was given 200 g glucose supply and protein according to patients’ weight every day. Evaluation of the study group was performed at end of 2 cycles and the control group was evaluated after 2 months.Results:There was no CR patient in 2 groups. In the study group there were 6 patients of PR (14.3%), 21 patients of SD (50%) and 13 patients of PD (30.9%), the effective rate was 14.3%, and the disease control rate was 64.3%. There were 1 patient of PR (2.4%), 15 patients of SD (35.7%), 25 patients of PD (60.9%), 1 patient of death, the effective rate was 2.4% and the disease control rate was 39.0% in the control group (P<0.05).Conclusion:The study group has better treatment effect and adverse reaction in patients of ECOG=2 and older than 70 with advanced non-small-cell lung cancer and the toxicity could be tolerated.
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ObjectiveTo investigate the changes and clinical significance of peripheral blood lymphocyte subsets in patients with idiopathic thrombocytopenic purpura (ITP). MethodsPAIgG, PAIgM, PAIgA in platelets and CD3+ , CD4+ , CD8+, CD4+/CD8+ antigen expression in peripheral blood of 42 patients with ITP and 30 normal controls were detected by ELISA and FACS, respectively. And the correlation between the two indicators was evaluated.ResultsThe levels of PAIgG, PAIgA, PAIgM in platelets of patients with ITP were significantly higher than the normal controls( P ＜ 0.01 ). Compared with the normal controls, the percentage of CD3+ and ratio of CD4+/CD8+ cell were significantly lower in ITP patients than that in normal controls, and the percentage of CD8+ cell in ITP patients was much higher than that in normal controls. The decreasing ratio of CD4+/CD8+ cell was significantly correlated with the levels of PAIgG,PAIgM, PAIgA. ConclusionTlymphocyte subsets showed abnormal function and ratio of lymphocyte subsets in ITP patients, and played an important role in pathological mechanism and diagnosis of ITP.
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Objective To detect the levels of serum procollagen type Ⅲ (PCⅢ), Ⅳ collagen(Ⅳ-C) ,laminin ( LN ) , erythropoietin ( EPO ) and thrombopoietin ( TPO) in patients with acute and chronic leukemia. Methods PCⅢ , Ⅳ-Cand LN levels were determined by radioimmunoassay and TPO,EPO levels were determined by enzyme-linked immunosorbent assay,for 26 acute leukemia patients,16 chronic leukemia patients,and 16 normal controls. Results PC Ⅲ[(164.02 ± 118.53) μg/L], Ⅳ-C[(66.54 ± 19.48) μg/L] ,LN[(122.85 ±25.10)μg/L], EPO[(52.90±34.87)mU/ml]and TPO[(642.54±318.49)ng/L]levels of patients with acute and chronic leukemia were higher than that of the healthy control group before chemotherapy (P ＜ 0. 05). EPO [( 72. 21 ± 52. 15 )mU/ml]and TPO[(642.54 ±318.49)ng/L]levels of acute leukemia patients after treatment were significantly lower than before treatment(P＜0.05),while PC Ⅲ ,Ⅳ-C,LN levels had no significant difference(P ＞0.05). There was no significant difference before and after chemotherapy for PC Ⅲ, Ⅳ-C,LN,TPO and EPO levels of chronic leukemia patients (P＞ 0.05). Conclusion PC Ⅲ,Ⅳ-C,LN,TPO and EPO of patients with acute and chronic leukemia were abnormal, and dynamic monitoring of EPO and TPO levels could reflect the effect of AL chemotherapy, but conld not contribute to the prediction of CML blast crisis.