Objective to observe the correlation between the expression and prognosis of osteosarcoma Insulin-like growth factor receptor(IGF1R),explore the factors affecting the prognosis of patients with osteosarcoma.Methods between January 2005 and April 2014 menstrual standardized comprehensive treatment of 60 cases of patients with stage ⅡB osteosarcoma were retrospectively analyzed.Using immunohistochemical method,the detection of osteosarcoma tissue and IGF1R expression rate in normal tissue adjacent to tumors and to analyze its correlation with survival of patients with osteosarcoma and factors affecting the prognosis.Results IGF1R in the positive expression rate of osteosarcoma tissues was 80.0％ (48/60),expression in normal tissue adjacent to tumor rate was 4/8,has a statistically significant difference between (P =0.032).IGF1R positive expression in osteosarcoma tissues group median disease-free survival time and the median overall survival time were significantly lower than the negative expression group (P =0.023,P =0.040) respectively.IGF1R expression level and pathological necrosis rate of preoperative chemotherapy,the time of first visit to the lung metastasis,and the survival prognosis of patients have significant correlation (P ＜ 0.05),and age,tumor location,tumor size,the serum LDH and ALP levels,is urgent to make a diagnosis and give treatment time,factors such as operation,preoperative chemotherapy times no significant correlation (P ＞ 0.05).Condusion IGF1R positive expression rate in stage Ⅱ B osteosarcoma tissue significantly negatively correlated with the prognosis of patients with osteosarcoma,is the independent prognostic factors of patients with osteosarcoma.

Objective To explore the operative technique and clinical outcomes of tiled flaps from foot with bone graft for reconstruction of thumb defects.Methods From January, 2008 to December, 2013, 8 cases of thumb defects with varying degrees were treated with tiled flaps from foot and iliac bone graft.Among them, 4 cases caused by emergency trauma, the other 4 cases was old defect after trauma, including 1 case of double thumb defect that caused by electrical burn.The thumb defects was caterorized as type Ⅰ A in 1 case, type Ⅰ B in 2 cases, type Ⅱ A in 1 case, type ⅡB in 2 cases and type ⅢA in 2 cases.Five cases in which were treated with free wrap-around flap from the ipsilateral big toe and tibial lateral-flap from the opposite second toe, 3 cases using free wrap-around flap with series connection of dorsal artery.Results All 8 reconstructed thumbs were survived.The wound healed primarily.In 1 case, the unhealed wound was healing after dressing where skin grafts in the donor sites of the foot were partial necrosis.Postoperative follow-up ranged from 6 to 72 months, the appearance of the thumb was satisfying when was compared with normal thumb.Thumb nail grew well, the blood supply was good, and sensory recovery from S2 to S4.According to the criteria issued by the Hand Surgery Society of Chinese Medical Association for functional assessment of reconstucted thumb and fingers, 5 were excellent and 3 were good.The donor site skin graft had no scar contracture and no ulceration.There was no apparent impairment on the foot function.Conclusion Combined tiled flaps from foot and iliac bone graft for reconstruction of thumb is a good method, which can recover the appearance of thumb without sacrificing toes of the donor foot.

Humans ; Lymphoma, Non-Hodgkin ; diagnosis ; Pleural Effusion

Objective: To compare the therapeutic effect of aspirin and clopidogrel on coronary heart disease. Methods: From June 2016 to July 2017, 186 patients with coronary heart disease in the Third People's Hospital of Yuyao were divided into control group and observation group according to different treatment methods, with 93 cases in each group.Both two groups were treated with routine symptomatic therapy, the control group was given aspirin and the observation group was given clopidogrel.Biochemical indicators, cardiac function and adverse events were observed. Results: There were no statistically significant differences between the two groups before treatment(all P>0.05). The platelet aggregation rate and activation time of partial thrombin of the observation group were (38.11±2.15)% and (48.21±3.50)s, respectively, which were better than those of the control group(t=48.819, 18.752, all P<0.05). There were no statistically significant differences in prothrombin activity and prothrombin time between the two groups(all P>0.05). The probability of grade Ⅳ and grade Ⅰ in the observation group was 8.60% and 38.71%, respectively, which was significantly different from those in the control group(χ²=5.243, 6.541, all P<0.05). The incidence rate of adverse events in the observation group(1.08%) was lower than that in the control group(7.53%), and the difference was statistically significant(χ²=4.072, P<0.05). Conclusion Clopidogrel is more effective than aspirin in the treatment of coronary heart disease.It can significantly improve the coagulation function, cardiac function, and it is safe and with less adverse reactions.

OBJECTIVETo analyze partial deletion of the long arm of X chromosome in a family and explore the mechanism underlying its phenotypes.

METHODSG-banding technique was employed to analyze the karyotypes of the subjects, and fluorescence in situ hybridization (FISH) was used to analyze their X chromosomes with Xpter, Xqter and WCPX probes.

RESULTSThe karyotypes of the proband, her mother and her fetus were all 46,X,del(X)(q24). Combined FISH and karyotyping analysis suggested that the proband and her fetus both carried a Xq24q27.3 deletion.

CONCLUSIONThe Xq24q27.3 deletion carried by the family is closely related with premature ovarian failure but not with short stature, gonadal dysgenesis and primary amenorrhea.

Adult ; Chromosome Banding ; Chromosome Deletion ; Chromosomes, Human, X ; Female ; Humans ; In Situ Hybridization, Fluorescence ; Karyotyping ; Primary Ovarian Insufficiency ; genetics

BACKGROUNDTo evaluate the influence of assays with primer labeled with fluorochrome (Cy5) and dUTP labeled with Cy5 on the signal intensity of the chip for detection of hepatitis B virus (HBV) gene polymorphism.

METHODSThe P-region and pre-C/C-region of HBV gene were amplified by polymerase chain reaction (PCR) with Cy5 labeled primer or Cy5 labeled dUTP. The amplicons of the two assays were hybridized with chips, scanned and analyzed by computer software for the detection of HBV gene polymorphism.

RESULTSThe signal intensity of assay with Cy5 labeled dUTP was slightly higher than that of assay with Cy5 labeled primer, but non?specific signal intensity of the assay with Cy5 labeled dUTP was higher. The result of 42 samples showed that there was no significant difference between the two assays, and that both had a good repeatability and CV value (15%-20%).

CONCLUSIONSThe assay with Cy5 labeled primer may replace the assay with Cy5 labeled dUTP as a routine method to detect HBV gene polymorphism, and it is simpler and cheaper.

DNA, Viral ; isolation & purification ; Fluorescent Dyes ; Genome, Viral ; Hepatitis B ; virology ; Hepatitis B virus ; genetics ; Humans ; Polymerase Chain Reaction ; methods ; Polymorphism, Genetic

Objective: To explore the genetic basis of a child with developmental delay and intellectual disability. Methods: Peripheral blood samples of the child and his parents were collected for routine G-band karyotyping analysis and single nucleotide polymorphism array (SNP array) assay. Amniotic fluid sample was collected during the next pregnancy for prenatal diagnosis. Results: No karyotypic abnormality was found in the child and his parents. SNP array showed that the child has carried a 855.3 kb microduplication in 15q11.2. His mother carried the same duplication but had no phenotypic anomaly. No microdeletion/microduplication was found in his father. Upon prenatal diagnosis, no abnormalities was found with the chromosomal karyotype and SNP array result of the fetus. Conclusion 15q11.2 microduplication may result in developmental delay and intellectual disability, for which CYFIP1 may be a candidate gene. However, the duplication may increase the risk but with a low penetrance. This should attract attention during clinical consultation.

OBJECTIVE: To explore the genetic basis for a child featuring developmental delay, intelligent disability and language deficit. METHODS: Peripheral blood samples of the child and her parents were collected for routine G-banding karyotyping analysis and single nucleotide polymorphism array (SNP array) detection. Amniotic fluid was also sampled from the mother for karyotyping analysis and SNP array detection. RESULTS: No karyotypic abnormality was found with the child and her parents. SNP array showed that the child has carried a 761.4 kb microdeletion at 16p11.2, while her mother has carried a 444.4 kb microduplication at 15q13.3. Her father's result was negative. Further analysis showed that the 15q13.3 microduplication was inherited from her maternal grandfather who was phenotypically normal. Prenatal diagnosis showed that the fetus has inherited the15q13.3 microduplication from its mother. CONCLUSION The child has carried a de novo 16p11.2 microdeletion, which overlaps with 16p11.2 microdeletion syndrome region, in addition with similar clinical phenotypes. The 16p11.2 microdeletion probably underlies her abnormal phenotype.
Child ; Chromosome Banding ; Chromosome Deletion ; Chromosomes, Human, Pair 16 ; Developmental Disabilities/genetics* ; Female ; Fetus ; Humans ; Karyotyping ; Polymorphism, Single Nucleotide ; Pregnancy ; Prenatal Diagnosis

OBJECTIVE: To assess the application value of combined detection of HbA2 and HbF for the screening of thalassemia among a population of childbearing age in Quanzhou, Fujian, and determine the optimal cut-off values for the region. METHODS: Capillary hemoglobin electrophoresis and genetic testing for α and β globin gene mutations were simultaneously carried out on 11 428 patients with suspected thalassemia. Statistical methods were used to analyze the distribution of various types of thalassemia and compare the performance of HbA2 and HbF measurement for the screening of various types of thalassemia. The optimal cut-off values for HbA2 and HbF were determined with the ROC curves. RESULTS: 4591 patients with α, β, and αβ compound thalassemia were identified by genetic testing. The most common genotypes for α and β thalassemia included --SEA/αα and β654/βN, β41-42/βN, and β17/βN. The ROC curves were drawn to compare the performance of HbA2 screening for α-, β-, αβ-compound, static α-, mild α-, and intermediate α-thalassemia, and the maximum area under the curves was 0.674, 0.984, 0.936, 0.499, 0.731, 0.956, and the optimal cut-off values for HbA2 were 2.45%, 3.25%, 3.65%, 2.95%, 2.55%, 1.75%, respectively. CONCLUSION HbA2 is an efficient indicator for identifying intermediate types of α-, β-, and αβ compound thalassemia. The combination of HbA2 and HbF measurement can effectively detect carriers for β-thalassemia mutations.
Genotype ; Hemoglobin A2/genetics* ; Heterozygote ; Humans ; Mass Screening ; Mutation ; alpha-Thalassemia ; beta-Thalassemia/genetics*

OBJECTIVE: To explore the genetic etiology of spontaneous abortions by using chromosomal microarray analysis (CMA). METHODS: Fetal tissues derived from 106 spontaneous abortion samples were subjected to CMA assay to detect genome copy number variants (CNVs). RESULTS: The test was successful in 94 cases (88.68%). Fifty four chromosomal abnormalities were detected, which included 44 numerical chromosomal aberrations mainly consisting of aneuploidies, triploidies and mosaicisms. Four pathogenic CNVs were detected, and two of which involved the Cri-du-chat syndrome regions. In addition, 6 chromosomal mosaicism were detected. CONCLUSION Numerical chromosomal aberrations and CNVs are the main causes for early spontaneous abortions. CMA can effectively reveal the genetic etiology of spontaneous abortions. Spontaneous abortions at gestational weeks 10 to 11⁺⁶ has the highest rate for chromosomal abnormalities, which may provide valuable information for clinical counseling.
Abortion, Spontaneous/genetics* ; Aneuploidy ; Chromosome Aberrations ; DNA Copy Number Variations ; Female ; Humans ; Microarray Analysis ; Mosaicism ; Pregnancy ; Prenatal Diagnosis