1.Role of lactoferrin and C-reactive protein in ascites of liver cirrhosis for diagnosis of spontaneous bacterial peritonitis
Li LIANG ; Yu LEI ; Daishu YIN ; Shan ZHONG ; Zhi ZHOU ; Hong REN
Chinese Journal of Infection and Chemotherapy 2014;(3):219-223
Objective This study was to investigate the role of lactoferrin and C-reactive protein (CRP)assay in ascitic fluid for diagnosis of spontaneous bacterial peritonitis (SBP)in the patients with decompensated liver cirrhosis.Methods Ascites was collected from the inpatients with decompensated liver cirrhosis before and after treatment from May to December 2011 for anal-ysis of polymorphonuclear cells (PMN)and bacterial culture.The level of lactoferrin and C-reactive protein in the ascites were determined.Results A total of 117 ascites samples were collected from 66 patients.Twenty-six patients met the criteria of SBP with PMN ≥ 250×106/L in ascites,were assigned to SBP group.Of these patients,11 presented with fever 37.3℃ to 38℃, and 11 patients had elevated peripheral blood white cell count > 10 × 109/L.Eleven patients had neutrophil cell percentage >0.75.Only 8 patients in this group had positive bacterial culture.Another 12 patients met the criteria of suspected SBP,and assigned to suspected SBP group.The remaining 28 patients did not satisfy the criteria of SBP,and assigned to non-SBP group.The pretreatment lactoferrin level was (768.46 ± 611 .70)ng/mL and (98.28 ± 56.81 )ng/mL in SBP and non-SBP group,respectively.The pretreatment CRP level was (9.397 ±3.737 )mg/L and (1 .786 ±0.52 )mg/L in SBP and non-SBP group,respectively.The lactoferrin and CRP levels decreased sharply after antibacterial and support-ive treatment in SBP group,which were 657.05 ng/mL and 8.13 mg/L,respectively.The cut-off value of lactoferrin for diagnosis of SBP was 233 ng/mL with sensitivity 96.2% and spe-cificity 97.5%.The cut-off value of CRP for diagnosis of SBP was 4.390 mg/L with sensitivity 92.3% and specificity 92.5%. However,lactoferrin combined with CRP had a sensitivity of 99.70% and specificity of 90.18% for diagnosis of SBP.Conclu-sions Lactoferrin and CRP levels in the ascites of patients with liver cirrhosis are useful for diagnosis of SBP with high specifici-ty and sensitivity.
2.Application of copy number variation squencing for prenatal diagnosis.
Quyou WANG ; Ting HU ; Lin CHEN ; Jiamin WANG ; Yang ZENG ; Daishu YIN ; Jing WANG ; Zhu ZHANG ; Shanling LIU
Chinese Journal of Medical Genetics 2022;39(9):949-953
OBJECTIVE:
To assess the value of next-generation sequencing-based copy number variation sequencing (CNV-seq) for the detection of copy number variations (CNVs) in prenatal diagnosis.
METHODS:
The results of single nucleotide polymorphism array (SNP-array) for prenatal diagnosis from May 2018 to December 2020 were reviewed. Selected cases of CNVs of clinical significance or low-percentage mosaic aneuploidies were included. Preserved DNA samples of amniotic fluid DNA were detected by CNV-seq. The results of CNV-seq and CMA were analyzed.
RESULTS:
A total of 16 488 data of SNP-array were re-analyzed, and 343 DNA samples were selected for the CNV-seq assay. All samples were successfully analyzed. Compared with the SNP-array, the proportion of full concordance, partial concordance and missed detection was 91.5% (314/343), 1.2% (4/343) and 7.3% (25/343), respectively. The non-detection zones of CNV-seq were confirmed, which have encompassed the SHOX gene and AZFc region.
CONCLUSION
With a high accuracy and wide genome-wide coverage, CNV-seq is worthy for a wide application in prenatal diagnosis, though the limitation of testing should be taken into consideration, and the appropriate prenatal diagnosis method should be selected for different populations to reduce the occurrence of birth defects.
Aneuploidy
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DNA
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DNA Copy Number Variations
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Female
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High-Throughput Nucleotide Sequencing
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Humans
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Pregnancy
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Prenatal Diagnosis/methods*