1.Prognostic significance of increased ring sideroblast in myelodysplastic syndrome
Sujun GE ; Mianyang LI ; Huiyuan KANG ; Lilin GU ; Yuling PAN ; Gaixia LIU ; Wencan JIANG ; Shuang LIANG ; Chengbin WANG
Chinese Journal of Laboratory Medicine 2017;40(2):126-132
Objective This study is aimed to investigate the prognostic significance of ring sideroblast ( RS) in MDS( Myelodysplastic Sydrome ) and evaluate the correlation of RS and other prognostic index.Methods A total of 198 patients with MDS between March 2009 and December 2015 in Chinese PLA′s Gerneral hospital were chosen for this study .Based on the ratio of RS in nucleated red blood cell , patients were first separated into myelodysplastic syndrome without ring sideroblast (MDS RS-) group, RS≥15%, and myelodysplastic syndrome with ring sideroblast ( MDS RS +) group, RS <15%. Then, according to the proportion of blasts in bone marrow nucleated cells above 5%or below, patients were further divided into myelodysplastic syndrome with low blasts without ring sideroblast ( MDS-LB RS-) group, myelodysplastic syndrome with low blasts and ring sideroblast ( MDS-LB RS+) group, refractory anemia with excess blast without ring sideroblast ( RAEB RS-) group and refractory anemia with excess blast and ring sideroblast ( RAEB RS+) groupe.All patients had completed the morphological , genetics , molecular biology examination at dignosis, and followed up by phone.The results of the overall survival (OS) analysis have been presented in a Kaplan-Meier curve and cox regression model .Last, according to the percentage of RS in nucleated red blood cell , patients were separated into RS <5%groupe, 5%-15%group, 15%-40%group, RS≥40%group, and analyse their survival prognosis by statistical methods .Results Comparing to MDS RS-group, the morbidity age, WBC and PLT count were significantly higher [61 ±1.91 vs 52 ±1.37, t=-3.555, P<0.01, 3.82(0.47-323)vs 2.6(0.6-59.7), z=-4.014, P<0.01;139.5(7-608) vs 60(3-724), z =-3.988, P<0.01], bone marrow eythroid hyperplasia and gigantocyte were more obvious in MDS RS+group[χ2 =11.032, P<0.01, χ2 =5.165, P<0.05]; the percentage of GATA1 gene and abnormal rate of poor prognosis gene ( MLL, NRAS, WT1 ) , either mutation or high gene expression , were higher in MDS-LB RS+group than that in MDS-LB RS-( P<0.05 ); Contrasting with RAEB RS-group, the karyotype is worse in RAEB RS +group[χ2 =4.966, P<0.05];Comparing to 15%-40%group, the OS were poorer in RS≥40%;MDS RS+patients were more prone to adverse prognosis than MDS RS-patients.Conclusion Compared to MDS RS-group, MDS RS +patients had worse prognosis;RS maybe correlate to morbidity age , eythroid dysplasia and gene abnormality in affecting the survival prognosis of MDS.
2.Rhinoplasty of unilateral cleft lip.
Baohua PAN ; Yufeng AI ; Huiyuan LI ; Kaihua LU ; Shuzhong GUO
Chinese Journal of Plastic Surgery 2002;18(1):20-21
OBJECTIVETo investigate the technique for unilateral cleft lip nasal deformities.
METHODSThrough the traditional columella margin incision, the alar cartilage and the lateral nasal cartilage were exposed. After the mucosa between the two cartilages was divided, a mucosa-cartilage flap was developed and anchored, moving the lateral crus upwardly and medially, correcting the nasal deformity.
RESULTS52 cases of primary nasal deformities and 18 cases of secondary nasal deformities were corrected with this technique. Satisfactory results were achieved.
CONCLUSIONThis technique is recommendable, which is more likely to restore the physiological characters of the nose than the conventional technique.
Adolescent ; Adult ; Child ; Child, Preschool ; Cleft Lip ; surgery ; Humans ; Infant ; Rhinoplasty ; methods
3.Analysis of genetic variant in a fetus featuring pontocerebellar hypoplasia type 6.
Xiaojing WENG ; Yuefang LIU ; Yuan PENG ; Zhe LIANG ; Xin JIN ; Longfei CHENG ; Huiyuan NIU ; Qiong PAN
Chinese Journal of Medical Genetics 2021;38(7):667-670
OBJECTIVE:
To explore the genetic basis for a fetus with cerebellar dysplasia and widened lateral ventricles.
METHODS:
The couple have elected induced abortion after careful counseling. Skin tissue sample from the abortus and peripheral venous blood samples from both parents were collected for the extraction of genomic DNA, which was then subjected to whole exome sequencing. Candidate variant was verified by Sanger sequencing.
RESULTS:
Prenatal ultrasonography showed increased nuchal translucency (0.4 cm) and widened lateral ventricles. Magnetic resonance imaging revealed infratentorial brain dysplasia. By DNA sequencing, the fetus was found to carry compound heterozygous variants c.1A>G and c.1564G>A of the RARS2 gene, which were inherited from its father and mother, respectively. Among these, c.1A>G was known to be pathogenic, but the pathogenicity of c.1564G>A was unreported previously. Based on the American College of Medical Genetics and Genomics guidelines, the c.1564G>A variant of RARS2 gene was predicted to be likely pathogenic(PM2+PM3+PP3+PP4).
CONCLUSION
The compound heterozygous variants c.1A>G and c.1564G>A of RARS2 gene contributed to the fetus suffering from pontocerebellar hypoplasia type 6, which expanded variant spectrum of RARS2 gene.
Female
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Fetus
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Genomics
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Humans
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Mutation
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Olivopontocerebellar Atrophies
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Pregnancy
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Whole Exome Sequencing
4.Comparative effectiveness research of different testing methods in functional quality inspection of precision surgical instruments
Fenglian CHE ; Liming QIAN ; Weiwei CHEN ; Lele ZHENG ; Yu CHEN ; Huiyuan PAN
China Medical Equipment 2024;21(3):129-132
Objective:To compare the testing effects of different testing methods in the functional inspection of precision surgical scissors and needle holders.Methods:By consulting relevant literature and professional books,three testing methods and materials for precision surgical scissors and needle holders were selected.The cutting performance of the precision surgical scissors were tested by gauze cloth,cotton wool,and silicone film method in the Interlock surgical instrument testing set.The clamping performance of precision needle holder was tested by using light,needle clips,and thread clamping method in the Interlock surgical instrument testing set.100 pieces of precision surgical scissors and needle holders which were qualified for cleaning and disinfection in the hospital were selected for effectiveness testing,and a self-made satisfaction questionnaire to investigate the satisfaction of surgeons with the use of instruments.Results:After 100 precision surgical scissors tested using three methods of gauze,cotton wool,and silicone film,the qualified number of cutting performance was 94,76,and 58,respectively,the difference was statistically significant(x2=36.526,P<0.05).The satisfaction rate of surgeons with the use of precision surgical scissors passed the silicone film test was the highest at 100%,followed by cotton wool cloth at 82.0%,and the gauze method at the worst at 67.0%,the difference was statistically significant(x2=48.439,P<0.05).After 100 precision needle holders were tested by using three methods of light irradiation,needle clamping,and wire clamping,the qualified number of clamping performance was 96,78,and 62,respectively,the difference was statistically significant(x2=38.160,P<0.05).The satisfaction rate of surgeons with the precision needle holders passed the clamp line test was the highest at 100.0%,followed by the clamp needle at 79.0%,and the worst under light at 62.0%,the difference was statistically significant(x2=57.705,P<0.05).Conclusion:The function and quality of precision surgical scissors and needle holders tested by the test objects in Interlock Surgical Instrument Test Suite can objectively and accurately reflect the functional status of surgical scissors and needle holders,provide reference for regular maintenance and upkeep of instruments,and ensure safe use of instruments.