ABSTRACT
Objective: To investigate the predictive value of platelet-to-lymphocyte ratio (PLR), red blood cell distribution width to platelet count ratio (RPR) and systemic immune inflammation index (SII) in the staging and postoperative recurrence of ovarian endometrial cysts. Methods: Retrospective analysis was made on the clinical data of patients who underwent laparoscopic surgery for ovarian cysts in the Affiliated Hospital of Qingdao University from January 2018 to January 2020. The patients with ovarian endometriosis cyst confirmed by pathology after surgery were the observation group (n=350), and the patients with other benign ovarian cyst were the control group (n=150). The preoperative platelet count, platelet distribution width, absolute number of neutrophils, lymphocyte absolute number, absolute number of monocytes, red blood cell distribution width, and serum cancer antigen 125 (CA125) of the patients in two groups were recorded, and PLR, neutrophil-to-lymphocyte ratio (NLR), RPR, SII, and systemic inflammation response index (SIRI) were calculated and analyzed. The general data of all patients and the follow-up data within 2 years after the operation of the observation group were statistically recorded to evaluate the diagnostic value of PLR, RPR and SII for ovarian endometrial cyst, and the predictive value of staging and recurrence within 2 years after the operation. Results: PLR, NLR, SII (median: 147.53, 1.86, and 488.70 respectively) and CA125 (median: 59.41 kU/L) in the observation group were significantly higher than those in the control group, while RPR (median: 0.16) was lower than that in the control group, with significant differences (all P<0.01). There was no significant difference in SIRI between the two groups (P>0.05). The PLR and SII (median: 122.73, 345.00) of the observation group at stage Ⅲ and Ⅳ were higher than those of patients at stage Ⅰ and Ⅱ, and the RPR was lower than that of patients with stage Ⅰ and Ⅱ, with significant differences (all P<0.001). The PLR, NLR, SII, SIRI (median: 179.63, 2.75, 762.96, and 1.06 respectively) and CA125 (median: 108.83 kU/L) in patients with recurrence were significantly higher than those in patients without recurrence 2 years after the operation, and the differences were statistically significant (all P<0.001). The area under curve (AUC) of CA125 in the diagnosis of ovarian endometriosis cyst was 0.951, the sensitivity was 85.7%, and the specificity was 93.0%, which were higher than those of PLR and SII; the AUC of PLR+SII+CA125 in the diagnosis of ovarian endometriosis cyst was 0.952. The AUC of RPR predicting the stage of ovarian endometriosis cyst was 0.713, higher than PLR and SII, lower than CA125; the AUC of RPR+SII+CA125 in predicting the stage of ovarian endometriotic cyst was 0.825, with sensitivity of 68.7% and specificity of 85.7%. The AUC predicted by SII for recurrence of ovarian endometriotic cyst within 2 years after the operation was 0.803, higher than NLR, PLR, SIRI and CA125; the AUC of PLR+SII+CA125, sensitivity, specificity was 0.813, 81.5% and 73.0%, higher than SII. Conclusion: PLR, RPR and SII are related to the staging of ovarian endometriotic cyst, and SII has a certain predictive value for the recurrence of ovarian endometriotic cyst after surgery.
Subject(s)
Female , Humans , Endometriosis/surgery , Retrospective Studies , Lymphocytes , Neutrophils , CA-125 Antigen , InflammationABSTRACT
OBJECTIVE: To explore the clinical value of non-invasive prenatal testing(NIPT)for screening fetal chromosomal copy number variations(CNVs) and microdeletion/microduplication syndromes(MDs).METHODS: Retrospective analysis was made in the 10 005 women who received NIPT during the first trimester(15-20+ 6 weeks)from January,2012 to July,2017,at First People's Hospital of Yunnan Province,Department of Genetic Diagnosis Center.Among them 32 pregnant women were indicated fetal CNVs,25 of 32 pregnant women selected interventional prenatal diagnosis.Statistical analysis was made on the amniotic fluid/cord blood chromosome G band karyotype and high-throughput sequencing(NGS)genome copy number analysis was made,and relevant CNVs were searched and analyzed in the corresponding database;the consistency of CNVs found in NIPT with interventional prenatal diagnosis was statistically analyzed.RESULTS: During the second trimester(15-20+ 6 weeks),in the 10 005 pregnant women who received NIPT testing 32 cases were shown to have high risks of fetal CNVs,and the screening positive rate was 0.32%(32/10 005).In 25 high risk pregnant women who accepted invasive prenatal diagnosis via informed choice,14 women wereconfirmed as fetal CNVs,the positive predictive value(PPV)of NIPT being 56%(14/25),including 9 cases of microdeletion and 5 cases of microduplication.The sizes were between 587.75 kb and 36.05 Mb.The size and the start and end positions of CNVs found by NIPT were similar to those of fetal DNA samples detected by NGS.Among 14 cases of fetal CNVs,11 cases were identified as MDs,3 cases as unknown clinical significance.In 11 cases of MDs,8 cases were observed fetal chromosome structure abnormalities by karyotype analysis,10 cases were confirmed as de novo abbreviations,and 2 cases as originated from paternal same MD.After genetic counseling,10 pregnant women in 11 cases of MDs chose informed terminations,and one case chose continuing pregnancy.CONCLUSION: As a high-precision screening method,NIPT is expected to be an effective mean to screen for fetal CNVs,which can be used to detect highrisk chromosome microdeletion and microduplication CNVs of larger segments.High risk cases of fetal CNVs found by NIPT require invasive prenatal diagnosis for validation.
ABSTRACT
OBJECTIVE@#To study the association of copy number of SMN1 and SMN2 with clinical phenotypes in children with spinal muscular atrophy (SMA).@*METHODS@#A total of 45 children with SMA were enrolled. Multiplex ligation-dependent probe amplification was used to measure the gene copy numbers of SMN1 and SMN2. The association of copy number of SMN1 and SMN2 with clinical phenotypes was analyzed.@*RESULTS@#Of the 45 children with SMA, 42 (93%) had a homozygous deletion of SMN1 exons 7 and 8, and 3 (7%) had a deletion of SMN1 exon 7 alone. No association was found between SMA clinical types and the deletion types of SMN1 exons 7 and 8 (P>0.05). There was a significant difference in the distribution of SMN2 gene copy numbers between the children with SMA and the healthy children (P<0.05). The children with SMA usually had two or three copies of SMN2 gene, while the healthy children usually had one or two copies of SMN2 gene. There was a significant difference in the distribution of SMN2 copy numbers among the children with different SMA clinical types (P<0.05). The children with two copies of SMN2 gene had a significantly lower age of onset than those with three or four copies. Most of the children with type I SMA had two or three copies of SMN2 gene. Most of the children with type II SMA had three copies of SMN2 gene. Most of the children with type III SMA had three or four copies of SMN2 gene. Children with a higher copy number of SMN2 gene tended to have an older age of onset and better motor function and clinical outcome, and there was a significant association between SMN2 gene copy number and clinical outcome (P<0.05).@*CONCLUSIONS@#The SMN2 gene can reduce the severity of SMA via the dosage compensation effect. SMN2 copy number is associated with the phenotype of SMA, and therefore, it can be used to predict disease severity.
Subject(s)
Child , Humans , Muscular Atrophy, Spinal , Genetics , Phenotype , Survival of Motor Neuron 1 Protein , Genetics , Survival of Motor Neuron 2 Protein , GeneticsABSTRACT
OBJECTIVES@#To explore the genetic variation sites of caveolin （CAV） and their correlation with sudden unexplained death （SUD）.@*METHODS@#The blood samples were collected from SUD group （71 cases）, coronary artery disease （CAD） group （62 cases） and control group （60 cases）, respectively. The genome DNA were extracted and sequencing was performed directly by amplifying gene coding region and exon-intron splicing region of CAV1 and CAV3 using PCR. The type of heritable variation of CVA was confirmed and statistical analysis was performed.@*RESULTS@#A total of 4 variation sites that maybe significative were identified in SUD group, and two were newfound which were CAV1： c.45C>T （T15T） and CAV1：c.512G>A （R171H）, and two were SNP loci which were CAV1：c.246C>T （rs35242077） and CAV3：c.99C>T （rs1008642） and had significant difference （P<0.05） in allele and genotype frequencies between SUD and control groups. Forementioned variation sites were not found in CAD group.@*CONCLUSIONS@#The variants of CAV1 and CAV3 may be correlated with a part of SUD group.
Subject(s)
Humans , Male , Caveolins/genetics , Coronary Artery Disease , Death, Sudden/etiology , Exons , Genotype , Polymerase Chain Reaction , Polymorphism, Single NucleotideABSTRACT
BACKGROUND:It has been reported that 70％ of patients with chronic myeloid leukemia (CML) are negative for cytogenetic and genetic markers within 1-5 months after allogeneic hematopoietic stem cell transplantation (allo-HSCT),but there are still some patients who have repeatedly varied outcomes in cytogenetic and genetic marker detection.Overall,the negative rate is up to 89.5％ at 3-12 months after allo-HSCT.OBJECTIVE:To monitor the changes in cytogenetic and genetic marker expression and to explore the prognostic significance in CML patients undergoing allo-HSCT.METHODS:Seventeen CML patients who had undergone allo-HSCT were enrolled.Chromosome G banding pattern of the bone marrow from these patients were analyzed using short-term culture method and direct method at 30 days,2,3,4,6,12,24,36,48,60,72 months after allo-HSCT.Dual-color fluorescence in situ hybridization was used to detect bcr-abl fusion gene;bcr-abl expressions in primary bone marrow ceils from CML patients were detected using RQ-PCR.Results and conclusion:There were 8/17 cases of male patient/male donor and 7/17cases of male patient/female donor (compatriots).46XX karyotype (women) was detected by multiple reexaminations after transplantation,and there was no Y chromosome or other aberration of chromosome karyotype in their karyotype.Among the 17 cases,1 case of female patient/female donor (compatriots) and 1 case of female patient/male donor (unrelated) manifested 46 XY chromosome karyotype and bcr-abl positive at 1 month after transplantation;after 4 months,these two cases still maintained 46 XY chromosome karyotype but bcr-abl negative;after 4-96 months,the karyotype continued to remain as 46 XY,and bcr-abl (-).Among the 17 cases,1 case of male patient/male donor of full-matched compatriot (brother) manifested that Ph chromosomal bcr-abl gene continuously expressed within 1-12 months after allo-HSCT;then the cases was given donor lymphocyte infusion,and the bcr-abl expression returned to be negative at 48 months after transplantation.To conclude,chromosomal karyotype analysis and bcr-abl fusion gene monitoring provide important reference value for subsequent treatment options and prognosis judgment for CML patients with allo-HSCT.
ABSTRACT
<p><b>OBJECTIVE</b>To investigate the prevalence and related risk factors of prehypertension in Hangzhou, Shaoxing,Jiaxing city, Zhejiang province.</p><p><b>METHODS</b>3200 people were selected by stratified cluster random sampling method, and statistical methods including chi-square test, and logistic regression through SAS 9.0 were used.</p><p><b>RESULTS</b>The prevalence of pre- hypertension was 45.9%, higher for males and urban population, with significant differences seen between males and female(49.0% vs. 48.0%, P < 0.05), urban and rural areas(59.31% vs. 44.15%, P < 0.05). Data from the multiple factor logistic analysis showed that risk factors of prehypertension would include: older age, types of profession, under low education level, being urban residents, overweight and obesity, hyper triglyceride, and family history of hypertension, with ORs and 95% CI as 0.99 (0.98-0.99), 1.28(1.07-1.28), 1.31(1.10-1.56), 1.50(1.11-2.02), 1.33(0.98-1.81), 1.60 (1.19-2.16)and 1.18(1.00-1.39), respectively.</p><p><b>CONCLUSION</b>Prehypertension prevalence was found high in the studied district, especially in urban residents with low education level. Strategies including reduction on risk factors as obesity and hyper triglyceride through health education as well as lifestyle modification should be taken to hold back the increasing trend on prehypertension in Zhejiang.</p>
Subject(s)
Adolescent , Aged , Female , Humans , Male , Middle Aged , China , Epidemiology , Hypertension , Epidemiology , Logistic Models , Prehypertension , Epidemiology , Prevalence , Risk FactorsABSTRACT
OBJECTIVE@#To observe the expression and distribution of vascular cell adhesion molecule-1 (VCAM-1) and caspase-3 in myocardium of persons who died from viral myocarditis and to explore its pathogenesis and death mechanism.@*METHODS@#Twenty cases died from viral myocarditis were selected as the experimental group. Ten cases died from traumatic shock and massive hemorrhage shock after traffic accidents were selected as the control group. The sections of myocardium were stained by immunohistochemistry for VCAM-1 and caspase-3, and observed under microscope. The positive expressions of VCAM-1 and caspase-3 of the two groups were compared with each other by image analysis and statistical analysis.@*RESULTS@#(1) The vascular endothelial cells expressed VCAM-1 with dark-brown colors in the experimental group, and weak expression was observed in the control group. The average optical density in the experimental group was higher than that in the control group (P < 0.05). (2) The caspase-3 positive cells were mostly inflammatory cells around the myocardial vessels with brown-red granules in the experimental group. The positive cell number in the experimental group was higher than that in the control group (P < 0.05).@*CONCLUSION@#VCAM-1 may play an important role in the inflammatory cells exudation caused by viral myocarditis, and may provide the reference for diagnosis of viral myocarditis in forensic pathology. However, the myocardial apoptosis mediated by caspase-3 doesn't affect the lethal mechanism in the late stage of viral myocarditis.
Subject(s)
Adolescent , Adult , Child , Female , Humans , Male , Middle Aged , Young Adult , Caspase 3/metabolism , Death, Sudden, Cardiac/etiology , Forensic Pathology , Immunohistochemistry , Myocarditis/virology , Myocardium/pathology , Myocytes, Cardiac/pathology , Shock, Traumatic/pathology , Vascular Cell Adhesion Molecule-1/metabolismABSTRACT
<p><b>OBJECTIVE</b>To investigate the association between single nucleotide polymorphisms (SNP) of angiopoietin-2 (Ang-2) gene and type 2 diabetes mellitus (T2DM) and diabetic nephropathy (DN).</p><p><b>METHODS</b>Genotype and allele frequency of Ang-2 were detected by amplification refractory mutation system-PCR(ARMS-PCR) in 221 cases with T2DM and 104 normal controls. Monocyte chemoattractant protein-1(MCP-1) was measured by ELISA. DN patients were divided into three groups according to urinary albumin excretion rates (UAER), i.e. DN0: UAER < 30 mg/24 h, DN1: UAER 30-300 mg/24 h and DN2: UAER > 300 mg/24 h.</p><p><b>RESULTS</b>Statistics showed: (1) Genotype frequencies and allele frequencies in Ang-2 1233A/G had significant difference but not Ang-2 759T/G and 1078A/G; (2) Comparing with those with genotype AA, the relative risk of genotype (AG+ GG) suffered from T2DM and DN were 2.265 fold (OR= 2.265, 95% CI: 1.223-1.402, P= 0.031), 1.789 fold (OR= 1.789, 95% CI: 0.889-1.021, P= 0.012), respectively; (3) The onset of DN was related to Ang-2 1233A/G allele G (r= 1.321, OR= 1.427, 95% CI: 2.324-4.177, P= 0.034).</p><p><b>CONCLUSION</b>Ang-2 1233A/G polymorphism may be associated with T2DM and involved in onset and development of DN.</p>
Subject(s)
Humans , Angiopoietin-2 , Genetics , Case-Control Studies , Chemokine CCL2 , Genetics , Diabetes Mellitus, Type 2 , Genetics , Diabetic Nephropathies , Genetics , Gene Frequency , Genotype , Polymorphism, Single NucleotideABSTRACT
<p><b>OBJECTIVE</b>To investigate the feasibility and risk of preimplantation genetic diagnosis (PGD) for screening normal offspring of Robertsonian translocation carriers.</p><p><b>METHODS</b>This case was clinically diagnosed as primary infertility for 6 years; the husband was found to have chromosome der (13;14) (q10;q10) and oligozoospermia. For the solution of the couple's problem, controlled ovarian hyperstimulation (COH) and intracytoplasmic sperm injection (ICSI) were performed to obtain embryos. The embryos were drilled in zona by acidified Tyrode's solution at 6-8 cell stage (day 3 post-fertilization) and a single blastomere was removed from each embryo. All blastomeres were analyzed by fluorescence in situ hybridization (FISH) using the double color probes LSI 13q labeled by SpectrumOrange and Tel 14q labeled by SpectrumGreen. The embryos biopsied were cultured at once and the normal ones selected were transferred the next day. Prenatal diagnostic techniques were used to detect the karyotype of fetus at 18 weeks of gestation.</p><p><b>RESULTS</b>Unbalanced, normal or balanced, and unclear embryos were separated. The couple obtained 50a (4/8)normal or balanced,and 37.5a (3/8)unbalanced, and 12.5a (1/8) unclear embryos. A singleton pregnancy followed, and the karyotype of the fetus (46,XY) was detected by prenatal diagnostic techniques.</p><p><b>CONCLUSION</b>PGD is useful for screening out unbalanced embryos and is very valuable for solving the reproductive problem of Robertsonian translocation carriers and for avoiding fetal beings with severe disorders.</p>