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OBJECTIVE@#To explore the genetic basis for a rare case of acute B-lymphocytic leukemia (B-ALL) with double Philadelphia chromosomes (Ph) and double derivative chromosome 9s [der(9)].@*METHODS@#A patient with double Ph and double der(9) B-ALL who presented at Shanghai Zhaxin Intergrated Traditional Chinese and Western Medicine Hospital in June 2020 was selected as the subject. Bone marrow morphology, flow cytometry, G-banding karyotyping, fluorescence in situ hybridization (FISH), genetic testing and chromosomal microarray analysis (CMA) were used to analyze bone marrow samples from the patient at various stages.@*RESULTS@#At initial diagnosis, the patient's bone marrow morphology and flow immunotyping have both supported the diagnosis of B-ALL. G-banded karyotyping of the patient indicated double Ph, in addition with hyperdiploid chromosomes involving translocations between chromosomes 9 and 22. BCR-ABL1 fusion gene was positive. Genetic testing at the time of recurrence revealed presence of a heterozyous c.944C>T variant in the kinase region of the ABL1 gene. FISH showed a signal for ABL1-BCR fusion on both chromosome 9s. CMA showed that the mosaicism homozygosity ratio of chromosome 9 was about 40%, and the mosaicism duplication ratio of chromosome 22 was about 43%.@*CONCLUSION@#Since both der(9) homologs were seen in 40% of cells, the possible mechanism for the double der(9) in this patient may be similar to that of double Ph, which might have resulted from non-disjunction during mitosis in the Ph chromosome-positive cell clone.
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Humanos , Cromossomo Filadélfia , Hibridização in Situ Fluorescente/métodos , China , Aberrações Cromossômicas , Leucemia-Linfoma Linfoblástico de Células Precursoras/genética , Translocação Genética , Proteínas de Fusão bcr-abl/genética , Cromossomos Humanos Par 9/genéticaRESUMO
Clinical laboratory of hematology is highly professionalized, with abstract concepts, and a variety of laboratory techniques. The working-process based CBL teaching method may help clinical laboratory interns better understand the clinical significance and the mutual relationship of laboratory tests, improve the comprehensive ability and cultivate the general clinical thinking ability.
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The residents who had lived for at least 5 years and aged over 20 years old were sampled from urban to rural districts of Jiangsu Province with a stratified cluster sampling technique. B mode ultrasonography and thyroid function determination were carried out in 6 128 persons. The location, diameter, number, boundary, and calcification in thyroid nodules were described by using 7.5 MHz/50 mm transducer of thyroid ultrasonography. TSH was measured by chemiluminescence immunoassay. Free triiodothyronine(FT3)and free thyroxin(FT4)were measured when TSH was abnormal. The crude prevalence of thyroid nodules was 21.12% in total population, 14.55% in male, and 25.24% in female. The standardized prevalence was 15.69%, 11.20%, and 20.40%, respectively. The prevalence was lower in male than in female, and increased with age(P＜0.05). Thyroid nodules in Jiangsu Province were highly prevalent and more attention should be paid to the follow-up, early diagnosis, and treatment.
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Objective To compare the effects of rat proinsulin gene therapy via intraportal infusion and intramuscular injection blood glucose level in streptozotocin-induced diabetic rots. Methods (1) Recombinant eukaryotic cell expression plasmid of rat proinsulin gene pCMV/proiusulin was transferred into streptozotocin-induced diabetic rats by intraportal infusion and intramuscular injection to observe the effect of rat proiusulin gene therapy in diabetic rats. The treatment group by intraportal infusion (group A) and the group by intramuscular injection (group C) were given pCMV/proinsulin naked plasmid DNA 100 μg, while the control groups by intraportal infusion (group B) or by intramuscular injection (group D) were treated with similar amount of pCMV DNA. Normal group and diabetes mellitus group were also observed at the same time. (2) Blood glucose level was tested and serum insulin was determined by radioimmunoassay. RT-PCR and immunohistochemistry were used to detemine proinsulin mRNA and protein expressions in liver and skeletal muscle and protein. Results (1) The blood glucose levels in two treated groups were both decreased. In group A, levels of blood sugar decreased about 7 mmol/L and glycemie control was maintained for 3-4 weeks. Serum insulin levels step up significantly after pCMV/proinsulin gene therapy. The blood glucose level in group A was significantly lower than those of group B and DM group (P<0.05), while the serum insulin level was higher than those of two groups (P<0.05). In group C, blood glucose levels decreased about 4 mmol/L and glycemic control was maintained for 1-2 weeks. Meanwhile, the concentrations of insulin increased markedly after gene therapy. The blood glucose in group C was significantly lower than those of group D and DM group (P<0.05), while the serum insulin level was higher than those of two groups (P<0.05). (2) Proinsulin mRNA and protein expressions could be detected in either hepatic cell of group A or skeletal muscle cell of group C, not in group B and group D. Conclusion Proiusulin genetherapy via intraportal infusion or intramuscular injection lowers significantly blood glucose in diabetic rats, and thus offers a potential approach to treatment of diabetes.
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Six thousand and forty-four subjects in Jiangsu community were enrolled to investigate the relationship between subclinical thyroid dysfunction and blood pressure. It was shown that subclinical thyroid dysfunction, including both the subclinical hyperthyroidism and subclinical hypothyroidism, had no relationship with increased blood pressure.
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BACKGROUND: Sodium alginate-poly-lysine can cause foreign body reaction to induce functional inactivation of the microencapsulated islets following transplantation. Can barium chloride solve this problem?OBJECTIVE: To assess the biocompat ibility of purified sodium alginate-barium chloride microcapsules and the bioactivity of the microencapsulated islets of rats.DESIGN: A randomized controlled experiments based on the experimental animals.SETTING: Department of endocrinology in a university hospital.MATERIALS: This experiment was completed in the Laboratory of Endocrinology and Department of Laboratory Animals, First Affiliated Hospital of Nanjing Medical University during July to December 2002. Specific pathogen-free SD and Wistar rats were provided by Center of Animal Experiment, Nanjing Medical University and Animal Experiment Center of Shanghai respectively.METHODS: Purified and non-purified sodium alginate-barium chloride microcapsules were prepared with one-step method using domestically made equipment. The microcapsule was transplanted intraperitoneally into normal SD rats and its biocompatibility was observed 4 weeks later. The bioactivity of the microencapsulated islets was also observed following transplantation in streptozotocin(STZ)-induced diabetic Wistar rat models.MAIN OUTCOME MEASURES: ① The recovery rate of the transplanted empty microcapsule; ② Results of bioactivity assessment of the insulin from the microencapsulated islets; ③ Histological examination.RESULTS: Four weeks after the transplantation, the recovery rate of the transplanted empty microcapsules in the purified group was higher that that in non-purified group( P > 0.05), and the purified microcapsules retained intact and smooth morphology with out causing fibrosis. The islets encapsulated by purified sodium alginate-barium chloride microcapsules showed good insulin-ecreting function in in vitro culture, without significant difference from non-microencaps ulated islets( P > 0. 05) . The islets transplanted via the microcapsules into diabetic Wistar rat models induced by STZ had a survival time over 6 weeks.CONCLUSION: The purified sodium alginate-barium chloride microcapsules have good bioactivity and tissue compatibility, which might provide a solution for the source of donor diabetic islets in the treatment of type Ⅰ diabetes.
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Objective To investigate the influence of iodine on apoptosis of thyrocytes and to study the effect of iodine on the pathogenesis of thyroid diseases. Methods Normal human thyrocytes were cultured in the absence or presence of 10 -8 ～10 -4 mol/L NaI. Apoptosis, Fas expression, Bcl-2 and Bak expression and Fas and soluble Fas (sFas) mRNA levels in thyrocytes were detected by flowcytometry, Western blot and semi-quantitative reverse transcription polymerase chain reaction (RT-PCR) respectively, sFas was detected in supernatant of cultured thyrocytes by ELISA. Results (1) Low concentration of iodine (10 -8 mol/L) could inhibit apoptosis, while high concentrations of iodine (10 -6 ～10 -4 mol/L) increased apoptosis (P