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1.
Chinese Journal of Medical Genetics ; (6): 23-26, 2021.
Article in Chinese | WPRIM | ID: wpr-879515

ABSTRACT

OBJECTIVE@#To investigate the serological and molecular characteristics of a pedigree carrying an allele for ABO*BW.11 blood subgroup.@*METHODS@#The ABO blood type of 9 pedigree members were determined by serological methods. Exons 6 and 7 of the ABO gene were amplified by PCR and directly sequenced. The patient and her father were also subjected to clone sequencing analysis.@*RESULTS@#Serological tests demonstrated that the proband and her younger brother had an ABw subtype, whilst her father and two daughters had Bw subtype. Clone sequencing found that the exon 7 of the ABO gene of the proband had a T>C substitution at position 695, which was identified as a BW.11 allele compared with the reference sequence B.01. This BW.11 allele was also identified in the proband's father, brother and two daughters. Due to allelic competition, the A/BW.11 and BW.11/O alleles demonstrated significantly different phenotypes.@*CONCLUSION@#The c.695T>C substitution of the ABO gene may lead to allelic competition in the Bw11 subtype. Combined molecular and serological methods is helpful for precise blood grouping.


Subject(s)
Female , Humans , Male , ABO Blood-Group System/genetics , Alleles , Genotype , Pedigree , Phenotype
2.
Chinese Journal of Medical Genetics ; (6): 755-758, 2017.
Article in Chinese | WPRIM | ID: wpr-344181

ABSTRACT

<p><b>OBJECTIVE</b>To identify a rare subtype of the ABO blood group system and explore its molecular basis.</p><p><b>METHODS</b>Based on a standard serological assay, ABO subtype and haplotype were analyzed through PCR amplification of the 7 exons and adjacent introns of the ABO gene and TA clone sequencing.</p><p><b>RESULTS</b>Forward typing showed a B type, while reverse typing demonstrated an extremely weak anti-B on routine gel analysis, which indicated a forward and reverse typing discrepancy. Absorption-elution testing confirmed that there was no A antigen on the surface of patient's red blood cells. Sequencing of the ABO gene showed a G>A exchange at position 523 in exon 7, which resulted in a Val to Met substitution at codon 175. Clone sequencing of the amplificons of the ABO gene showed an ABO* Bw14/O01 heterozygote genotype.</p><p><b>CONCLUSION</b>Molecular method is useful for the identification of ambiguous blood groups. A 523G>A substitution of the ABO gene resulting in a Bw14 subtype probably underlies the weak B phenotype noted in the patient.</p>


Subject(s)
Humans , Male , Middle Aged , ABO Blood-Group System , Genetics , Exons , Genotype , Phenotype , Polymerase Chain Reaction
3.
Chinese Journal of Clinical Oncology ; (24): 674-678, 2016.
Article in Chinese | WPRIM | ID: wpr-495113

ABSTRACT

Objective:The implementation of a multidisciplinary team (MDT) approach for palliative treatment of patients with multi-ple primary carcinomas (MPCs) was evaluated in Tianjin Medical University Cancer Institute and Hospital. Methods:A total of 40 pa-tients with MPCs who attended the consultation by MDT in our hospital from January 1, 2014 to April 21, 2016 were analyzed retro-spectively. Clinical data of the 40 cancer patients were reviewed. The essential characteristics and results of MDT treatment decisions were summarized and expected outcomes were evaluated. Results:A total of 40 cases with MPCs were included in MDT assessment, accounting for 6.4%of the 629 patients who were handled by the MDT. A total of 39 MDT decisions were followed up successfully. Among these MDT decisions, 26 (65%) were fully implemented, 7 (17.5%) were partially implemented, and 6 (15.0%) were unimple-mented. Expected outcomes were achieved in 25 (96.2%) patients of the fully implemented concordant group, 4 (57.1%) patients of the partially concordant group, and 1 (16.7%) patient from the unimplemented group. Conclusion:MDT specializing on palliative treat-ment can provide recommendations for standardized individualized comprehensive treatment of patients with MPCs. MDT modality should be further improved and widely used for palliative treatment.

4.
Chinese Journal of Medical Genetics ; (6): 240-243, 2016.
Article in Chinese | WPRIM | ID: wpr-247697

ABSTRACT

<p><b>OBJECTIVE</b>To explore the molecular mechanism underlying the DEL phenotype among RhD negative ethnic Han individuals from Jiangsu, China.</p><p><b>METHODS</b>The DEL phenotype was determined by an adsorption elution test among 57 RhD negative blood donors. The Rh C, c, E, and e phenotypes were detected by a tube method. PCR with sequence-specific primering (PCR-SSP) assay was used to determine the RHCE genotypes. The RHD gene of the DEL individuals were amplified with polymerase chain reaction and subjected to Sanger sequencing analysis.</p><p><b>RESULTS</b>Among the 57 RhD negative donors, 10 (17.54%) were determined as having the DEL phenotype. The major RhCE phenotypes for DEL and RhD negative cases were RhCcee (80.0%) and Rhccee (61.7%), respectively. All RHD gene sequences of the 10 individuals have harbored a G>A mutation at position 1227 of exon 9.</p><p><b>CONCLUSION</b>A proportion of RhD negative individuals determined by routine serological method are actually DEL with RHD gene mutations. RHD *1227A is the most prevalent DEL genotype among ethnic Han Chinese from Jiangsu. Further research on the phenotype and underlying molecular mechanism of DEL is important for blood transfusion.</p>


Subject(s)
Humans , Male , Alleles , Asian People , Ethnology , Genetics , Base Sequence , Blood Donors , China , Ethnology , Exons , Genotype , Molecular Sequence Data , Phenotype , Polymorphism, Genetic , Rh-Hr Blood-Group System , Genetics
5.
Chinese Journal of Clinical Oncology ; (24): 357-359, 2015.
Article in Chinese | WPRIM | ID: wpr-460737

ABSTRACT

Objective:To explore the feasibility and safety of CT-guided hookwire localization of small lung nodule in video-as-sisted thoracic surgery. Methods: Preoperative localization of small lung nodule was performed using the CT-guided hookwire tech-nique, followed by video-assisted thoracic surgery in the wedge resection. The next mode of operation depends on the results of frozen biopsy. Results:Preoperative localization with CT-guided hookwire was performed in 34 patients between February 2012 and March 2014. The diameter of lung nodule ranged from 5 mm to 22 mm. CT-guided hookwire localization was successful in all patients, with a median positioning time of 23 min. Puncture needles were detached from two of the total patients during the surgery, and three other pa-tients showed pneumothorax by CT scan after localization. Conclusion:Preoperative hookwire localization of small lung nodule is an accurate and safe approach to improve the rate of wedge resection in video-assisted thoracic surgery.

6.
Chinese Journal of Clinical Oncology ; (24): 262-265, 2014.
Article in Chinese | WPRIM | ID: wpr-443751

ABSTRACT

Symptomatic venous thromboembolism (VTE) has a six-to seven-fold risk of occurring in cancer patients compared with non-cancer patients. VTE is the second most common cause of death among patients with cancer, and cancer-associated VTE is be-coming increasingly prevalent. Therefore, early diagnosis and treatment of cancer-associated VTE is particularly important. This study presents a pancreatic cancer-associated deep vein thrombosis (DVT) patient who engaged in a multidisciplinary comprehensive discus-sion in the Interventional Therapy Department, Tianjin Medical University Cancer Hospital to enhance concern, interdisciplinary com-munication, and cooperation in terms of cancer-associated VTE diagnosis and treatment strategies.

7.
Chinese Journal of Clinical Oncology ; (24): 733-735,740, 2013.
Article in Chinese | WPRIM | ID: wpr-598292

ABSTRACT

10.3969/j.issn.1000-8179.2013.12.013

8.
Chinese Journal of Clinical Oncology ; (24): 799-803, 2013.
Article in Chinese | WPRIM | ID: wpr-433674

ABSTRACT

Primary testicular lymphoma comprises 1% to 9% of testicular neoplasms and represents 1% to 2% of all non-Hodg-kin lymphomas. Histologically, the majority of the tumor consists of diffuse large B-cell non-Hodgkin lymphomas that are of intermedi-ate- or high-grade neoplasm. Clinically, the disease typically presents as a painless testicular swelling that develops over a span of weeks to months. B symptoms such as fever, weight loss, and anorexia are present in 25% to 41% of the patients. This tumor is an ag-gressive type, with frequent invasion of the epididymis, spermatic cord, and scrotum, as well as a marked tendency to relapse, especial-ly in the CNS. The treatment is mainly based on orchiectomy (mostly in stages ⅠE and ⅡE) regardless of its association with prophy-lactic irradiation of the scrotum and administration of intrathecal chemotherapy, cyclophosphamide, doxorubicin, vincristine, and pred-nisone regimen chemotherapy plus rituximab (R-CHOP) (stages ⅢE and ⅣE) and radiotherapy. The multi-modality treatment marked-ly improved progression-free and overall survival. We introduce as reference one case that received a multidisciplinary comprehensive discussion in the Department Lymphoma, Tianjin Medical University Cancer Hospital.

9.
Chinese Journal of Emergency Medicine ; (12): 1085-1088, 2010.
Article in Chinese | WPRIM | ID: wpr-386747

ABSTRACT

Objective To investigate the role of CT in the diagnois of superior vena cava syndrome secondary to pulmonary carcinoma. Method Fifty patients with pulmonary carcinoma resulting in SVCS were confirmed by pathological examinations. Relationship between anatomical distribution and gross type of pulmonary carcinoma and modes of pulmonary carcinoma resulting in SVCS were analyzed retrospectively and statistically. Correlation among obstructive degree of SVC, opening of collateral pathway and swelling of chest wall was analyzed retrospectively and statistically. Results For modes of pulmonary carcinoma resulting in SVCS, direct invasion of pulmonary carcinoma was 7 patients, metastasis of lymph node was 16 patients and both of the two was 27 patients.Modes of pulmonary carcinoma resulting in SVCS were different for different gross types of pulmonary carcinoma in different pulmonary lobes ( x2 = 30.012,P < 0.05). On CT appearances of secondary lesions, cases of simple constitution and opening of collateral pathway, simple swelling of chest wall, both of the two and neither of the two were 14 patients, 12 cases, 15 patients and 9 patients in order on CT. With SVC obstruction at different extent,constitution and opening of collateral pathway and swelling of chest wall were different ( x2= 12.881, P < 0.05).Conclusions SVCS resulted from pulmonary carcinoma can be diagnosed by contrast enhanced CT.

10.
Chinese Journal of Blood Transfusion ; (12)2008.
Article in Chinese | WPRIM | ID: wpr-592684

ABSTRACT

Objective To develop a method to produce leukoreduced platelet concentrates(LR-PCs) from pooled buffy coats in additive solution(a mixture of solutions for medical use).Methods LR-PCs were made from 6 pooled buffy coats(12 whole-blood units) and 220g additive solution,including 90% multiple electrolytes injection solution,8% ACD-A and 2% 50g/L NaHCO3 injection solution.After centrifugation,the PCs were leukoreduced with a filter and stored in a 600ml platelet storage bag.LR-PCs were prepared in a closed system.Results Routinely produced LR-PCs(n=30) contained(2.96?0.31)?1011 platelets with a volume of(270? 32)ml.The WBC and RBC count were(1.3?0.2)?106 and(5.8?1.1)?109 per unit,respectively.The CD62P expression was(22.5? 10.6)%.After 8-day storage,the in vitro quality of LR-PCs,including pH,hypotonic shock response(HSR) and CD62P expression were 7.14?0.04,(54.0?8.2)% and(45.7?13.8)%,respectively.Conclusion In terms of the in vitro quality of LR-PCs,the method of preparing LR-PCs from pooled buffy coats in mixing solutions is feasible.

11.
Chinese Journal of Radiology ; (12)1999.
Article in Chinese | WPRIM | ID: wpr-557306

ABSTRACT

Objective To assess the CT perfusion characteristics of breast diseases. Methods Twenty-two patients with fibroadenoma accompanied with cyst (n=1), other benign diseases (n=5), and carcinomas (n=16) underwent breast CT scan. CT perfusion was performed for breast with cine mode (0.5 s per rotation ) on a multislice CT scanner ,120 kV, 60 mA, 4?5 mm collimation. Contrast injection was done by using 50 ml nonionic contrast agent ( 300 mg I/ml ), at a flow rate of 4 ml/s with a power injector, 5 seconds delay, and data acquisition lasted for 50 seconds. These data were processed on a GE AW 4.1 workstation using perfusion 3 software package, and the mean BF, BV, MTT and PS were measured and statistically analyzed. Results The mean BF, BV, MTT and PS in carcinoma were (33.55? 28.40) ml?min -1 ? 100 g -1 , (5.60?3.08) ml/100 g, (15.37?6.41) s, (18.71?10.42) ml?min -1 ?100 g -1 . The mean BF, BV, MTT and PS in contralateral normal breast of carcinoma were (10.36?9.44) ml?min -1 ? 100 g -1 , (0.70?0.22) ml/100 g, (13.55?7.27) s, (1.54?1.74) ml?min -1 ?100 g -1 . The mean BF, BV, and PS between carcinoma and normal breast were statistically significant (P0.05). The mean BF, BV, MTT and PS in fibroadenoma were (62.57?19.62) ml?min -1 ?100 g -1 , (7.37?1.30) ml/100 g, (11.24?3.34) s, (27.63?3.87) ml?min -1 ?100 g -1 . The mean PS between carcinoma and fibroadenoma was statistically significant (P0.05). The mean BF, BV, MTT and PS in benign lesion were (7.65?10.24) ml?min -1 ?100 g -1 , (1.23?0.97) ml/100 g, (14.94?10.68) s, (1.81?1.72) ml?min -1 ?100 g -1 . The mean BF, BV, and PS between carcinoma and benign lesion were statistically significant (P0.05). Conclusion MSCT perfusion may reflect the features of breast diseases, and provide valuable hemodynamic message. These parameters have a value in diagnosis of breast diseases and are helpful for differential diagnosis.

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