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.

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

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

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 apply combined non-invasive prenatal testing (NIPT), chromosomal karyotyping and chromosomal microarray for the screening and prenatal diagnosis of a fetus with supernumerary small marker chromosome (sSMC). METHODS: Standard NIFTY and full gene NIFTY kits were applied to detect free DNA (cfDNA) isolated from peripheral blood sample of a pregnancy woman. Amniocentesis was carried out for the woman for an abnormal NIPT result. G-banded karyotyping and single nucleotide polymorphism array (SNP array) were used to determine the karyotype and copy number variants in the fetus. The result was validated with a fluorescence in situ hybridization (FISH) assay. RESULTS: Both the standard NIFTY and full gene NIFTY indicated abnormal dup(chr12:707 334-33 308 759), for which the T score value of copy number anomaly in full gene NIFTY is 6.823, which is higher than the standard NIFTY's T-score value of 3.9535. The two NIFTY results were both above the normal threshold ± 3. Conventional G-banding analysis of amniocytes showed that the fetus has a karyotype of 47,XY,+mar. SNP-array delineated duplication of 12p (arr [hg19]12p13.33p11.1 (173 786_34 385 641)× 4, which was verified by FISH. Based on the above results, the fetus was diagnosed as a novel case of Pallister-Killian syndrome. CONCLUSION NIPT has a certain value for the prenatal detection of PKS. Combined use of multiple techniques can facilitate delineation of the source of sSMC.
Chromosome Disorders/genetics* ; Chromosomes, Human, Pair 12/genetics* ; Female ; Humans ; In Situ Hybridization, Fluorescence ; Karyotyping ; Pregnancy

OBJECTIVE: To explore the genetic etiology of a neonate with suggestive features of Cornelia de Lange Syndrome (CdLS). METHODS: Chromosome karyotyping, copy number variation sequencing (CNV-seq) and whole exome sequencing (WES) were carried out for the child. Meanwhile, peripheral venous blood samples were taken from his parents for verifying the suspected pathogenic variants detected in the child. RESULTS: The child has exhibited developmental delay, microcephaly, ptosis, micrognathia, and low ear setting, and was suspected as CdLS. No abnormality was found by karyotyping and CNV-seq analysis. WES has detected 5 heterogeneous variants and 1 hemizygous variant on the X chromosome. Combining the genetic pattern and result of family verification, a hemizygous C.3500T>C (p.ile1167thr) of the SMC1A gene was predicted to underlay the clinical manifestations of the patient. This variant was not recorded in the dbSNP and gnomAD database. PolyPhen2, Provean, SIFT all predicted the variant to be harmful, and PhastCons conservative prediction is was a conservative mutation. ACMG variant classification standard evidence supports are PM2, PP2, and PP3. CONCLUSION The novel c.3500T>C (p.Ile1167Thr) missense mutation of the SMC1A gene probably underlay the genetic etiology of CdLS in this child. Above results has enriched the mutation spectrum of CdLS type II, and facilitated clinical counseling for this family.
Cell Cycle Proteins/genetics* ; Child ; DNA Copy Number Variations ; De Lange Syndrome/genetics* ; Humans ; Infant, Newborn ; Mutation ; Phenotype ; Whole Exome Sequencing