【Objective】 To explore the predictive value of preoperative liver function for massive blood transfusion (MBT) in patients undergoing ascending aorta surgery. 【Methods】 Data from 238 patients undergoing ascending aorta surgery in the Department of Cardiovascular Surgery at The Affiliated Lihuili Hospital of Ningbo University were collected. Preoperative liver function tests were performed for all patients. Based on the perioperative transfusion volumes of red blood cell suspension, patients were divided into the MBT group, non-MBT group, and no blood transfusion (NBT) group. Clinical data during the perioperative period were compared among different groups. Receiver operating characteristic curve (ROC curve) analysis was used to assess the predictive value of liver function indicators for MBT and determine cut-off values. 【Results】 Compared with the non-MBT group and NBT group, the MBT group showed statistically significant differences in preoperative levels of aspartate aminotransferase (AST), alanine aminotransferase (ALT), direct bilirubin (DBIL), and serum albumin (SA) (P<0.05). ROC curve analysis revealed that AST had the largest area under the curve (AUC) for predicting MBT, with a value of 0.723. ALT had the highest specificity for predicting MBT at 86.7%, and SA had the highest sensitivity at 89.7%. When AST >28.50 U/L, ALT >40.00 U/L, SA ≤34.55 g/L, and DBIL >4.25 μmol/L, there was a significant increase in the transfusion volume of various blood components and the incidence of MBT. 【Conclusion】 Preoperative liver function indicators (AST, ALT, SA, DBIL) have a moderate predictive value for MBT in patients undergoing ascending aorta surgery.

OBJECTIVE: To explore the clinical features and genomic abnorm ality of a fetus enlarged multicystic dysplastic kidneys with oligohydramnios caused by NPHP3 gene mutation. METHODS: The fetuse was found to have multicystic dysplastic kidneys with oligohydramnios upon ultrasonography during the second trimester. Following induced abortion, fetal tissue was collected for the extraction of DNA, chromosomal microarray analysis (CMA) and whole exome sequencing (WES). Sanger sequencing was used to verify the suspected variants in the family. RESULTS: Antenatal ultrasound examination at 19 weeks showed "polycystic" kidneys with Oligohydramnios. Delivery was by induced labour because of the critically low amniotic fluid volume. Testing of CMA was normal. WES showed a compound heterozygous mutation of c.1817G>A, p.W606X; c.432dupA, p.E145Rfs*18 mutations are novel mutations in this study. CONCLUSION The research may further expand the NPHP3 gene mutation spectrum. Enlarged multicystic dysplastic kidneys with oligohydramnios caused by NPHP3 gene mutation at least include one or two splice site mutation, frameshift mutation or nonsense mutation foetal poor prognosis.
Amniotic Fluid ; Female ; Humans ; Kidney Diseases, Cystic ; Multicystic Dysplastic Kidney/genetics* ; Mutation ; Oligohydramnios/genetics* ; Polycystic Kidney Diseases ; Pregnancy ; Ultrasonography, Prenatal

Objective:This study is aimed to investigate the value of absolute lymphocyte count (ALC) in predicting the clinical prognosis of patients with myelodyplastic syndrome(MDS).Methods:245 patients with MDS who diagnosed in our hospital from 2009 to 2019 were analyzed retrospectively, re-diagnosed according to WHO 2016 standard, and 208 patients with intact IPSS-R were risk-stratified, all of the patients′ peripheral blood ALC were collected and analyzed, through the time dependent receiver operating characteristic curve (ROC) analysis in Survival ROC package of R language, the optimal threshold value of ALC was 1.0×10 9/L. The patients of MDS were divided into normal ALC group (ALC ≥1.0×10 9/L) and low ALC group (ALC<1.0×10 9/L). Pearson χ 2 test and Mann-Whitney U test was used to analyze the differences in general data between the two groups. The overall survival (OS) curve and leukemia-free survival (LFS) were plotted by Kaplan-Meier method and compared by Long-rank test. Factors influencing the prognosis of MDS were analyzed by Cox Regression Model. Results:There were 97 cases in low ALC group and 148 cases in normal ALC group. The low ALC group had lower OS (15 months vs 60 months, P<0.000 1) and higher IPSS-R score (5.0 vs 3.75, P = 0.001). Multivariate analysis showed that ALC (<1.0×10 9/L) (HR:0.374,95% CI:0.153-0.917, P = 0.032) was independent risk factor of OS in IPSS-R-intermediate-risk MDS patients. Conclusion:This study shows that ALC in peripheral blood is an independent risk factor in IPSS-R-intermediate-risk MDS patients, which provides clinical evidence for the influence of body immunity on the development of MDS.

OBJECTIVE: To explore the correlation of genetic mutations and clinical features of myelodysplastic syndromes (MDS) with scores of Revised International Prognostic Scoring System (IPSS-R). METHODS: Eighty-seven patients with de novo MDS were enrolled. Mutations of MDS-related genes and clinical features were used to determine the incidence and subtype of mutations. Clinical features and IPSS-R scores of the patients with high frequency mutations involving TET2, TP53, ASXL1, RUNX1 and SF3B1 genes were compared. RESULTS: Fifty-four patients (62.1%) harbored at least one point mutation. The incidences of various mutations were significantly different, with the incidence of MDS-EB-2 being 100% and MDS-SLD being only 38.9%. Compared with the wild types, patients harboring mutations had higher lactate dehydrogenase, higher β2 microglobulin, higher percentage of bone marrow blast cells and lower hemoglobin levels (P=0.027, <0.01, <0.01, 0.046, respectively). The IPSS-R scores of MDS patients with mutations were significantly higher than the wild types (P<0.01). The IPSS-R scores of the TP53 mutation groups were 7.82±1.83, which was significantly higher than the control group (3.77±1.66, P<0.01). No difference was found between the IPSS-R between patients carrying TET2, ASXL1, RUNX1, and SF3B1 mutations or the wild types (P>0.05). CONCLUSION Genetic mutations are commonly found in MDS. MDS patients with mutations have unique clinical laboratory characteristics. Although the prognostic value of most genes is controversial, TP53 is an definite indicator of poor prognosis.
DNA Mutational Analysis ; Humans ; Incidence ; Mutation ; Myelodysplastic Syndromes ; genetics ; Prognosis ; Tumor Suppressor Protein p53 ; genetics

Objective To investigate the genetic characteristics of patients with thalassemia gene in Ningbo City.Methods Totally 313 patients with thalassemia gene diagnosed during March 2015 to April 2016 in Ningbo First Hospital were included in the study.The results of routine blood test,hemoglobin electrophoresis and gene test,as well as the gender and origin distribution of patients with thalassemia gene were analyzed.Results Of the 313 patients who carried the thalassemia gene,there were 289 females and 24 males with a median age of 29 years,ranging from 1 d to 57 years after birth.And of the 313 patients,75 carried the α-thalassemia gene,230 β-thalassemia and 8 composite thalassemia.The average value of hemoglobin was around 100 g/L and the average value of erythrocyte mean corpuscular volume (MCV) was less than 80 ft.Abnormal hemoglobin was usually found in α-thalassemia.81.74％ (188/230) of β-thalassemia had abnormal hemoglobin electrophoresis.Most of the patients were women who were diagnosed of anemia in routine prenatal examination.The number of patients,who came from Ningbo City or one of whose grandparents came from Ningbo City,was closed to 50％.Among 20 α-thalassemia patients coming from Ningbo City,genotype of--sea was the commonest genotype,accounted for 70.00％ (14/20).Among 82 β3-thalassemia patients coming from Ningbo,genotype of IVS-Ⅱ-654 was commonest genotype,accounted for 54.88％ (45/82).Genotypes of 2 composite thalassemia coming from Ningbo City were αcs compound IVS-Ⅱ-654 and-α3.7 compound CD41-42.Conclusions In Ningbo City,the incidence of thalassemia in women in Ningbo is higher than that in men.The morbidity of β-thalassemia genotype is apparently higher than that of α-thalassemia,and genotype of IVS-Ⅱ-654 in β3-thalassemia patients is the commonest genotype.

Objective: To explore the correlation of genetic mutations and clinical features of myelodysplastic syndromes (MDS) with scores of Revised International Prognostic Scoring System (IPSS-R). Methods: Eighty-seven patients with de novo MDS were enrolled. Mutations of MDS-related genes and clinical features were used to determine the incidence and subtype of mutations. Clinical features and IPSS-R scores of the patients with high frequency mutations involving TET2, TP53, ASXL1, RUNX1 and SF3B1 genes were compared. Results: Fifty-four patients (62.1%) harbored at least one point mutation. The incidences of various mutations were significantly different, with the incidence of MDS-EB-2 being 100% and MDS-SLD being only 38.9%. Compared with the wild types, patients harboring mutations had higher lactate dehydrogenase, higher β2 microglobulin, higher percentage of bone marrow blast cells and lower hemoglobin levels (P=0.027, <0.01, <0.01, 0.046, respectively). The IPSS-R scores of MDS patients with mutations were significantly higher than the wild types (P<0.01). The IPSS-R scores of the TP53 mutation groups were 7.82±1.83, which was significantly higher than the control group (3.77±1.66, P<0.01). No difference was found between the IPSS-R between patients carrying TET2, ASXL1, RUNX1, and SF3B1 mutations or the wild types (P>0.05). Conclusion Genetic mutations are commonly found in MDS. MDS patients with mutations have unique clinical laboratory characteristics. Although the prognostic value of most genes is controversial, TP53 is an definite indicator of poor prognosis.

AIM:To investigate the effect of miRNA-181a inhibition on the proliferation, migration and cell cycle of the human multiple myeloma cell line RPMI 8226.METHODS:Real-time PCR was used to detect miRNA-181a expression in serum samples from multiple myeloma or healthy subjects .After transfection with miRNA-181a inhibitor, the cell viability was examined by CCK-8 assay and colony formation assay .The cell migration ability was analyzed by wound healing assay .The cell cycle was detected by flow cytometry .Moreover , the protein level of cyclin D 1 and the phosphoryla-tion of PI3K and Akt were determined by Western blot .RESULTS:The expression of miRNA-181a was significantly in-creased in the serum from multiple myeloma patients as compared with healthy group .Inhibition of miRNA-181a expression by transfection with miRNA-181a inhibitor remarkably decreased the cell viability , migratory ability, the population of G0/G1 phase and cyclin D1 protein expression in the RPMI8226 cells.However, the population of S phase and the phosphory-lation of PI3K and Akt were reduced .CONCLUSION:Down-regulation of miRNA-181a inhibits the viability and migra-tory ability in the RPMI8226 cells via inhibition of cell cycle and PI 3K/Akt signaling pathway .

OBJECTIVETo investigate the clinical efficacy of all-trans retinoic acid (ATRA) plus arsenic trioxide (ATO) in induction and maintenance therapy in newly diagnosed acute promyelocytic leukemia (APL).

METHODSA retrospective analysis of 298 newly diagnosed APL patients from the department of hematology, First Affiliated Hospital of Zhejiang University since September 2004 to December 2013, including 177 cases with ATRA plus ATO and 116 ATRA plus chemotherapy (CT), was performed to investigate the clinical efficacy between the low-intermediate (WBC≤10×10⁹/L) and high (WBC>10×10⁹/L) risk APL patients, respectively.

RESULTSFor the low-intermediate risk patients, the relapse rate in ATRA plus CT and ATRA plus ATO are 22.0% and 6.1% (P=0.004), respectively; the 3 years estimated relapse-free survival (RFS) are 78.0% and 92.9% (P=0.021), respectively. For the high risk patients, the relapse rate in ATRA plus CT and ATRA plus ATO are 25.0% and 5.2% (P=0.035), respectively; the 3 years estimated RFS rate were 80.8% and 93.0% (P=0.021), respectively. But the rate of early death (ED), complete remission (CR) and overall survival (OS) between the two therapy protocols had no statistical difference (P>0.05).

CONCLUSIONATRA plus ATO in induction and maintenance therapy might prolong the RFS time of the low-intermediate risk APL patients and decrease the relapse rate of the low, intermediate and high risk APL patients.

Antineoplastic Combined Chemotherapy Protocols ; Arsenicals ; Humans ; Leukemia, Promyelocytic, Acute ; Oxides ; Recurrence ; Remission Induction ; Retrospective Studies ; Survival Rate ; Tretinoin

OBJECTIVETo investigate the effect of small interfering RNA（siRNA）for MSI-2 on the growth, apoptosis and NUMB expression of THP-1 cells.

METHODSThree siRNA for MSI-2 gene was designed and transfected into THP- 1 cells. The cell inhibition, colony formation and apoptosis were determined. The protein expression of NUMB, caspase- 3 and PARP were detected by Western blotting.

RESULTSAfter MSI- 2 expression of THP- 1 cells was down- regulated for 24 hours, cell inhibition of siRNA MSI-2 group was（47.89±7.64）%, obviously higher than that of negative control group（P=0.005）. After 9 days, cell colony count of siRNA MSI-2 group was 7.50±1.53, also lower than that of negative control group（35.75±7.46, P<0.001）. In addition, apoptotic rates of siRNA MSI- 2 group at 24 hours ［（15.22±1.52）%］and 48 hours［（33.83±3.96）%］were significantly higher than those of negative control group（P=0.008 and P=0.001, respectively）. Accordingly, activations of caspase-3 and PARP and increased NUMB were observed in siRNA MSI- 2 group.

CONCLUSIONsiRNA for MSI- 2 gene could increase the expressions of NUMB to inhibit the proliferation and induce apoptosis of THP-1 cells.

Apoptosis ; Caspase 3 ; metabolism ; Cell Line, Tumor ; Cell Proliferation ; Down-Regulation ; Humans ; Membrane Proteins ; genetics ; metabolism ; Nerve Tissue Proteins ; genetics ; metabolism ; Poly (ADP-Ribose) Polymerase-1 ; Poly(ADP-ribose) Polymerases ; metabolism ; RNA Interference ; RNA, Small Interfering ; RNA-Binding Proteins ; genetics ; metabolism ; Transfection

OBJECTIVETo explore the incidence of chromosome 1 abnormality in myelodysplastic syndrome（MDS）to couple its association with clinical presentation and prognosis.

METHODSR- band karyotype analyses were performed in 672 cases of MDS between 2010 and 2013. Clinical data of those with abnormal chromosome l were collected and then analyzed factors affecting the prognosis.

RESULTSOf 672 cases of patients with MDS, chromosome 1 aberration［der（1）, dup（1）, －1 were most frequent］ were found in 41（6.1%）cases. 1q trisomy was found in 18/41（43.9%）cases, and the most common patterns were duplication of the long arm as well as unbalanced translocation with other chromosomes. Of 41 patients with chromosomal 1 abnormality, 32 cases were accompanied with other chromosomal aberration, usually involving 3 or more abnormal chromosomal karyotypes, e.g., chromosome 8, 7 abnormalities. According to IPSS-R scoring system, 19 patients were diagnosed with very high risk, 10 patients high risk, 10 patients intermediate risk and 2 patients low risk MDS. 9 patients transformed into acute leukemia with median transforming time of 7.18（0.56-54.28）months. Median survival of 36 cases after 2010 was 17.48（95% CI 14.38-20.58）months. There were significant differences on median survival between RAEB and non-RAEB groups（χ²=10.398, P=0.001）, and between with more than 3 chromosome abnormalities and with less than 3 groups（χ²=3.939, P=0.047）. RAEB was identified as an independent risk factor for the prognosis of MDS with chromosome 1 abnormality.

CONCLUSIONChromosome 1 aberration was not rare in MDS. 1q trisomy was the most common abnormal karyotype in China, which often accompanied with other chromosomal abnormalities. The prognosis of MDS patients with chromosome 1 abnormality was poor, especially worse in those diagnosed with RAEB-1, RAEB-2 and with more than 3 chromosome abnormality. For patients whose percentage of bone marrow blasts less than 5%, the prognosis of patients with 1q trisomy was better than those without 1q trisomy. RAEB was identified as an independent risk factor for the prognosis of MDS with chromosome 1 abnormality.

Abnormal Karyotype ; Acute Disease ; Anemia, Refractory, with Excess of Blasts ; Bone Marrow ; China ; Chromosome Aberrations ; Chromosome Banding ; Chromosomes, Human, Pair 1 ; genetics ; Humans ; Karyotyping ; Leukemia ; diagnosis ; genetics ; Myelodysplastic Syndromes ; diagnosis ; genetics ; Prognosis ; Risk Factors ; Trisomy