Objective To evaluate the clinical diagnosis and treatment of gastrointestinal stromal tumors(GISTs). MethodsThe clinical data of patients with GISTs admitted into surgical department from Jan 1999 to Mar 2004 were retrospectively analyzed. ResultsThere were 40 cases enrolled, with a male to female ratio of 30∶10. Thirty -eight patients underwent complete tumor resection, two did laparotomy only. According to the Fletcher classification, six patients were of very low risk, seven of low risk, eleven of intermediate risk, and sixteen of high risk.CD119 staining was positive in 80% cases, and CD34 was in 85%.Thirty-one patients were followed up, with 5 out of 29 postoperative patients suffering from recurrence and metastasis 6 to 30 months postoperatively. Two patients with unresectable tumor survived an average of 9 months. Gleevec was administered to two patients with partial relief achieved in one. Conclusion 1.GISTs are predominantly found in the middle-aged. Stomach and small bowel are most often affected. 2.Immunohistochemical staining was necessary for the diagnosis of GISTs.3.Fletcher classification is useful guide for clinical treatment and prognosis prediction.

ObjectiveTo compare two treatment methods for acute iliofemoral vein thrombosis:c atheter-directed pharmacomechanical thrombolysis (CDPT,47 cases) and intervention combined surgicaltherapy( IST,14 cases).MethodsThis study includes 61 patients of acute iliofemoral vein thrombosis treated by CDPT or IST.All discharged cases were followed up by telephone for a period of 14 -37 months.ResultsAmong the 61 patients (64 extremities),47 (forty-seven extremities) treated by CDPT,and 14 cases (seventeen extremities) treated by IST.The IST group included three patients of bilateral iliofemoral vein thrombosis,five patients on postoperative status within one month,and three patients in which the iliofemoral vein was not accessible.When discharged from hospital,the effective rate of edema relief is 93.6％ in CDPT group while that is 94.1％ in IST group; Melena occurred in one patient of CDPT group and incision hematoma occurred in one patient of IST group.According to the results of 14 -37 months follow-up,the effective rate of edema relief is 85.0％ in CDPT group while that is 85.7％ in IST group ( x2 =0.004 and the P =0.948).Calf pigmentation occurred in only one patient of CDPT group.The patency rate of vein by BUS examination is 52.6％ in CDPT group while that is 84.6％ in IST group x2 =4.157,P =0.041 ).ConclusionsComparing with CDPT group,IST group has the similar effective rate of edema relief,but has higher patency rate of iliofemoral vein.In case of bilateral acute iliofemoral vein thrombosis,in patients in whom thrombolysis is contraindicated,or when the iliofemoral vein is not accessible,IST is the treatment of choice for acute iliofemoral vein thrombosis.

Objective To explore the application value of monoexponential, biexponential models multiple b values diffusion weighted imaging(DWI) in distinguishing pancreatic cancer from non-tumorous pancreas.Methods Subjects comprised 37 pancreatic cancers confirmed by clinical or surgery.Pancreas multiple b values DWI was performed using 3.0T scanner.Standard apparent diffusion coefficient (ADCstandard) was calculated using monoexponential diffusion model.Pure diffusion coefficient (ADCslow), pseudodiffusion coefficient (ADCfast) and perfusion fraction (f) were calculated using intravoxel incoherent motion(IVIM) diffusion model.Parameters of pancreatic cancers and non-tumorous pancreas were compared using independent samples t test.Results Mean ADCslow value of pancreatic cancer was higher than that of non-tumorous pancreas (0.611×10-3 mm2/s vs 0.521×10-3 mm2/s,P=0.037).Mean ADCfast and f values of pancreatic cancer were lower than that of non-tumorous pancreas (5.066×10-3 mm2/s vs 7.188×10-3 mm2/s,P=0.035;55.8% vs 64.0%,P=0.016;respectively).ADCslow of pancreatic cancer was positively correlated to ADCstandard (r=0.824,P=0.000).ADCfast of pancreatic cancer was negatively correlated to f(r=-0.558,P=0.000).Conclusion ADCslow, ADCfast and f derived from IVIM-DWI model can distinguish pancreatic cancer from non-tumorous pancreas.IVIM-DWI may be a promising and non-invasive tool for early diagnosing and differentiating pancreatic carcinoma from non-tumorous pancreas.

ObjectiveTo investigate key techniques and intervention in reducing birth defects. Method Down's syndrome (DS), trisomy-18 (Edwards syndrome, ES), neural tube defects (NTD), Duchenne muscular dystrophy (DMD), spinal muscular atrophy (SMA), thalassemia, and glucose-6-phosphate dehydrogenase deficiency (G6PD) were chosen as target disease. From Jan. 2007 to Dec. 2009, the condition of intake folie acid were investigated in 5004 pregnant women in Panlong District and Wuhua District of Kunming City. All of the 27 660 pregnant women undergoing prenatal examination were enrolled into the study from the First People's Hospital of Yunnan Province, the Second People's Hospital of Yunnan Province, the First People's Hospital of Qujing City, the Second People's of Qujing City, Qujing Women and Children's Hospital, People's Hospital of Lincang City, Kunming Maria Women's Hospital, Maternal and Infant's Care Unit of Panlong District of Kunming City, Maternal and Infant's Hospital of Dali City. The screening was performed on serum of those pregnant women at 8 -20 +6 gestational weeks. Prenatal cytogenetic analysis and fetal ultrasonogrspy were performed on the high risk or indicated women after genetic counseling. DNA analysis was administered on those women with family or childbearing history of DMD,SMA,thalassemia,orG6PD. Outcomeof pregnancywasfolloweduptoevaluatetheeffectof intervention. ResultsApproximately 30. 10％ (1506/5004) of pregnant women were administered by oral folic acid during perinatal period. Two thousand three hundred and thirteen women with high risks of DS,ES, or NTD fetuses were observed among 27 660 undergoing maternal serum screening. Two thousand and ninety-six pregnant women including two twins pregnant women were performed cytogenetic analysis. Other 67 pregnant women at high risk of DMD, SMA, thalassemia, and G6PD accepted genetic counseling and prenatal gene analysis. Two thousand one hundred and sixty-three pregnant women (2165 fetuses) underwent prenatal examination. One hundred and two cases chromosome abnormalities, 17 cases NTD, 4 cases DMD, 1 cases α-thalassemia major were found. All of the 91 fetuses with major birth defects were terminated after genetic counseling. Another affected DS fetus in a twin pregnancy dead intrauterine at 24 gestational weeks. Thirty-two women bearing fetuseswithbalancedtranslocations orinversionscontinuedtheir pregnancies. Totally 2071 normal term fetuses were born in the prenatal diagnosis group. Two fetuses with normal chromosome were lost within 1 week after amniocentesis. Four affected DS fetuses were born from their high risk mothers who refused further prenatal diagnosis service. In a random sampling follow-up cohort of 5000 mothers at low risk, none of affected child suffering target diseases was found. The DS detection rate of maternal serum screening was 84％ (27/32), with the false positive rate was 6. 153％ (1702/27 660).ConclusionsFolic acid intake before conception and in the first trimester would reduce the risk of birth defects, only 1/3 reproductive women took folie acid actively. Maternal serum screening could effectively detect high risk of DS, ES and NTD. The genetic counseling is critical in women at high risk or who had family history of inherited disorders. The prenatal screening and diagnosis combined with routine obstetric care could reduce the incidence of major birth defects, which should become prenatal care strategy in our country.

Objective To evaluate a new prenatal diagnosis model of chromosomal abnormalities and nine microdeletion syndromes by using both traditional karyotyping and a newly-developed rapid prenatal diagnosis technology, BACs-on-Beads (BoBs) technique. Methods From June 2012 to December 2014, 807 pregnant women with high risk after screening or with other indicators, were performed amniocentesis. Traditional karyotyping and BoBs were employed simultaneously for prenatal diagnosis. Results Thirty-two cases with chromosome aneupoidies were successfully detected both by BoBs and karyotyping, including 18 cases of trisomy 21, 6 cases of trisomy 18, 1 case of trisomy 13, and 7 cases with sex chromosome abnormality. All 8 fetuses with chromosome structural abnormalities detected by karyotyping were missed by BoBs;while BoBs contributed more in detection of five microdeletion syndrome cases, including 3 cases of DiGeorge syndromes (two with microduplication and one with microdeletion), one case of Miller-Dieker syndrome, and one case of Wolf-Hirschhorn syndrome. Conclusion Combined use of traditional karyotyping and BoBs, is a rapid and effective prenatal diagnosis model that may enlarge our horizon on chromosomal diseases and should be widely used in future clinical service.

Purpose: Anterior gradient 3 (AGR3) belongs to human anterior gradient (AGR) family. The function of AGR3 on cancer remains unknown. This research aimed to investigate if AGR3 had prognostic values in invasive ductal carcinoma (IDC) of breast cancer and could promote tumor progression. Materials and Methods: AGR3 expression was detected in breast benign lesions, ductal carcinoma in situ and IDC by immunohistochemistry analysis. AGR3’s correlations with clinicopathological features and prognosis of IDC patients were analyzed. By cell function experiments, collagen gel droplet-embedded culture drug sensitivity test and cytotoxic analysis, AGR3’s impacts on proliferation, invasion ability, and chemotherapeutic drug sensitivity of breast cancer cells were also detected. Results: AGR3 was up-regulated in luminal subtype of histological grade I-II of IDC patients and positively correlated with high risks of recurrence and distant metastasis. AGR3 high expression could lead to bone or liver metastasis and predict poor prognosis of luminal B. In cell lines, AGR3 could promote proliferation and invasion ability of breast cancer cells which were consistent with clinical analysis. Besides, AGR3 could indicate poor prognosis of breast cancer patients treated with taxane but a favorable prognosis with 5-fluoropyrimidines. And breast cancer cells with AGR3 high expression were resistant to taxane but sensitive to 5-fluoropyrimidines. Conclusion AGR3 might be a potential prognostic indicator in luminal B subtype of IDC patients of histological grade I-II. And patients with AGR3 high expression should be treated with chemotherapy regimens consisting of 5-fluoropyrimidines but no taxane.

Objective:To explore benefit finding and its influencing factors among enterostomy patients.Methods:A total of 120 enterostomy patients were investigated with general information questionnaire, Benefit Finding Scale, Simplified Scale of Resilience and Perceived Social Support Scale.Results:The score of benefit finding among enterostomy patients was 49.44±5.86. Multiple regression analysis showed that education level, self-care, complications, resilience, perceived social support were influencing factors of benefit finding, and explained 51.1% of the variance.Conclusions:The benefit finding among enterostomy patients was grim. It is suggested that clinical staff pay more attention to the patients with low education, poor self-care and complications of stoma, and also pay more attention to the positive psychology and the social support system of patients, guide patients to pay attention to the positive significance of the disease, so as to improve the level of benefit finding.

Objective:To investigate the current situation with regard to a sense of coherence in major caregivers of enterostomy patients and analyze its relationship with self-efficacy and perceived social support.Methods:From July to December 2019, a total of 118 major caregivers of enterostomy patients were investigated using a general information questionnaire, a self-efficacy scale, and a perceived social support scale.Results:The score of sense of coherence in major caregivers of enterostomy patients was 58.40±9.17, and the average scores of all dimensions, from high to low, were “controllable sense，” “understandable sense，”and “meaningful sense.” Sense of coherence was positively correlated with self-efficacy and perceived social support ( r=0.457, P<0.01; r=0.369, P<0.01). Hierarchical multiple regression analysis showed that self-efficacy and perceived social support had a positive predictive effect on sense of coherence and explained 35.2% of the variance ( R′ 2=0.352, F=25.639, P<0.001). Conclusions:The main caregivers of enterostomy patients had a low level of sense of coherence. Self-efficacy and perceived social support have a positive effect on sense of coherence. Medical staff should take targeted measures to help caregivers improve their self-efficacy and social support system in order to improve their sense of coherence.

OBJECTIVETo establish a strategy for screening and diagnosing common microdeletion and microduplication syndromes among children with idiopathic mental retardation and development abnormalities.

METHODSPotential chromosomal variations among patients with unexplained mental retardation, cardiac anomalies, particular facial features, learning disabilities and other clinical characteristics were detected with bacterial artificial chromosome BACs-on-Beads (BoBs) technique and karyotyping. Positive results were verified with array-based comparative genomic hybridization (Array-CGH).

RESULTSFifty eight of the 60 patients had a normal chromosome karyotype. Ten patients with microdeletion and microduplication syndromes were detected by BoBs, which included two positive cases identified through chromosome karyotyping. Two patients were respectively diagnosed as Smith-Magenis syndrome and Prader-Willi/Angelman syndrome by BoBs and the results were confirmed by Array-CGH.

CONCLUSIONBoBs is capable of detecting chromosome microdeletion and microduplication with high specificity and throughput, which can compensate the shortcomings of conventional cytogenetic technology and will be widely applied for clinical diagnosis.

Adolescent ; Child ; Child, Preschool ; Chromosome Deletion ; Chromosome Duplication ; Chromosomes, Artificial, Bacterial ; genetics ; Comparative Genomic Hybridization ; Cytogenetic Analysis ; methods ; Female ; Humans ; Infant ; Infant, Newborn ; Karyotyping ; Male ; Oligonucleotide Array Sequence Analysis

OBJECTIVE: To perform carrier screening for spinal muscular atrophy (SMA) among 3049 reproductive-age individuals from Yunnan region and determine the copy number of survival motor neuron (SMN) gene and carrier frequencies. METHODS: Multiplex ligation-dependent probe amplification (MLPA) was used to determine the copy number of exon 7 of SMN1 and SMN2 genes and identify those with a single copy of SMN1 gene. Prenatal diagnosis was performed for couples whom were both found to be SMA carriers. RESULTS: In total 62 SMA carriers were identified among the 3049 subjects, which yielded a carrier frequency of 1 in 49 (2.03%). No statistical difference was found in the carrier frequency between males and females (1.91% vs. 2.30%, P>0.05). Respectively, 1.3% (41/3049) and 0.69% (21/3049) of the carriers were caused by heterozygous deletion and conversion of the SMN1 gene. The average copy number for SMN1 alleles was 1.99. Two couples were found to be both as SMA carriers, for whom the birth of an affected fetus was avoided by prenatal diagnosis. CONCLUSION No difference was found in the carrier frequency of SMA-related mutations between the two genders in Yunnan region, which was in keeping to an autosomal recessive inheritance pattern. Determination of the carrier frequency for SMA and SMN gene variants may provide a basis for genetic counseling and prenatal diagnosis for the disease.
China ; Female ; Genetic Carrier Screening ; Genetic Counseling ; Genetic Variation ; Heterozygote ; Humans ; Male ; Muscular Atrophy, Spinal ; genetics ; Pregnancy ; Prenatal Diagnosis ; Survival of Motor Neuron 1 Protein ; genetics ; Survival of Motor Neuron 2 Protein ; genetics