Objective This study is aimed to evaluate the association between the ABCG2 gene rs2231142 variant and gout using meta-analysis. Methods Related studies were identified by searching extensively in Chinese and foreign language databases such as Pubmed, EMBASE, Cochrane Library, CBMdisc databases and so on. The quality of included studies was assessed by using the Newcastle-Ottawa Scale (NOS). The odds ratio (OR) was calculated using a random-effects or fixed-effects model. A Q statistic was used to evaluate the heterogeneity, and Eggerˊs test and funnel plot were used to assess publication bias. Sub-group analyses on ethnicities and sex were also performed. Results A total of 10 studies, including 3 478 gout patients and 10,089 controls from 6 countries or regions, were included and identified for the current metaan-alysis. It was found that the A allele or AA genotype of the ABCG2 rs2231142 polymorphism had an increased risk for gout in the general population [A allele: OR=2.03, 95%CI (1.77, 2.34), P<0.01 and AA genotype: OR=3.01, 95%CI (2.34, 3.88), P<0.01, respectively]. Similar results were found in sub-group analyses of different gender and races. Conclusion Existing evidence indicate that rs2231142 polymorphism (the A allele and AA genotype) is associated with increased risk of gout.

The aim of study was to investigate the importance of chromosome aberration in differential diagnosis of eosinophilia and the chromosomal aberrations involved in patients with clonal eosinophilia. 65 cases of eosinophilia were collected and chromosome specimens of bone marrow cells were prepared by 24-hour culture, and G-banding technique was used for karyotyping. The results showed that out of 65 cases, chromosome 16 inversion was detected in 9 patients suspected as M(4Eo), and among the other 56 cases, 5 were detected with chromosomal aberrations (8.9%). Combining clinical, hematological and cytogenetical data, the 5 patients were diagnosed as acute myeloid leukemia with eosinophilia, chronic eosinophilic leukemia, 8p11 myeloproliferative syndrome, chronic myeloid leukemia in acute phase and acute myeloid leukemia-M(4Eo) respectively. The detected chromosomal aberrations were +14, t (5; 12) (q31; p13), t (8; 9) (p11; q32), t (9; 22) (q34; q11) and inv (16) (p13 q22). In conclusion, cytogenetical detection is very important in differential diagnosis of clonal eosinophilic disorders and chronic eosinophilic leukemia, which is suggested to be done routinely in clinic.
Adolescent ; Adult ; Aged ; Aged, 80 and over ; Chromosome Aberrations ; Chromosomes, Human, Pair 16 ; genetics ; Cytogenetic Analysis ; Diagnosis, Differential ; Eosinophilia ; diagnosis ; genetics ; pathology ; Female ; Humans ; Hypereosinophilic Syndrome ; diagnosis ; genetics ; pathology ; Male ; Middle Aged ; Young Adult

Objective: To analyze the characteristics of myeloid neoplasms with t (3;21) (q26;q22) . Methods: Clinical data of patients with t (3; 21) (q26; q22) , diagnosed as hematologic malignancies in Peking University people's hospital from January 2011 to March 2018, were collected retrospectively. 19 patients in our hospital and forty-eight patients bearing t (3;21) (q26;q22) with detailed survival data reported in literature were summarized. Kaplan- Meier method was used for survival analysis. Results: Among 19 patients, including 15 males and 4 females with a median age of 36 years (22-68 years) , 4 cases was diagnosed as de novo acute myeloid leukemia (AML) , 4 as myelodysplastic syndromes (MDS) , 3 as MDS-AML and 8 as chronic myelogenous leukemia (CML) in myeloid blast transformation. All of the 19 patients were detected to have t (3;21) (q26;q22) by G-banding technique and 13 carried additional cytogenetic aberrations. 9 of the 19 patients were detected for positive AML1-MDS1 fusion genes. In the 9 patients with detailed follow-up data, 6 patients received chemotherapy and only 2 achieved complete remission (CR) while 4 with no response. During the follow-up period, 8 patients died and the median overall survival (OS) was 6 months (4.5 to 22 months) . Survival analysis of the present 9 patients together with the literature data showed that the prognosis was poor and the median OS was 7 months. In particular, AML/t-AML had the worst prognosis. Hematopoietic stem cell transplantation (HSCT) could significantly improve survival, the median OS in HSCT group and non-HSCT group were 20.9 and 4.7 months respectively (P<0.001) . Conclusions: t (3; 21) (q26; q22) is a rare recurrent chromosomal abnormality which is detected mainly in myeloid neoplasm and confer to poor clinical prognosis. HSCT should be recommended to improve the outcomes.
Adult ; Aged ; Chromosomes, Human, Pair 21 ; Chromosomes, Human, Pair 3 ; Female ; Humans ; Leukemia, Myeloid, Acute ; Male ; Middle Aged ; Myeloproliferative Disorders ; Retrospective Studies ; Translocation, Genetic ; Young Adult

This study was aimed to investigate the characteristics of 11 patients with acute myeloid leukemia (AML) accompanying with karyotype t(6;9). The laboratorial and clinical data were analyzed retrospectively, including immunophenotype analysis and result analysis of real-time quantitative PCR detection. The results showed that a high prevalence of M2 was observed. Among 11 cases, 6 of M2, 2 of M4, 2 of M5 and 1 of MDS-RAEBT were found according to FAB criteria. Ten patients had high counts of peripheral white blood cells. Bone marrow dysplasia was seen in only 2 cases, and basophilia occurred in 4 cases. Six patients carried additional cytogenetic aberrations apart from t(6;9). Immunophenotypic analysis showed that all patients were positive for CD117, CD33, CD13, HLA-DR, CD38 and CD123. No NPM1 mutation was observed in all patients and a high level of WT1 was detected in all patients (7/7), out of 7 patients FLT3-ITD mutation was detected in only 3 patients. Follow-up details were available for 7 patients, one of whom died before chemotherapy, and the remaining 6 patients all had no response to IA or DA regimen. Among the 6 patients, 3 did not response to subsequently chemotherapy and all died from infections in a short period after diagnosis, the other 3 patients achieved a complete remission after alternative chemotherapy, but 2 relapsed in a short time and died. It is concluded that AML with cytogenetic aberration of t(6,9) is a distinct disease with a very poor prognosis. The first line chemotherapy such as IA or DA regimen is not effective to such patients, and the effective treatment needs further study.
Adult ; Chromosomes, Human, Pair 6 ; genetics ; Chromosomes, Human, Pair 9 ; genetics ; Female ; Humans ; Karyotype ; Karyotyping ; Leukemia, Myeloid, Acute ; diagnosis ; genetics ; Male ; Middle Aged ; Prognosis ; Retrospective Studies ; Translocation, Genetic ; Young Adult

Vascular wall-resident stem cells (VW-SCs) play a critical role in maintaining normal vascular function and regulating vascular repair. Understanding the basic functional characteristics of the VW-SCs will facilitate the study of their regulation and potential therapeutic applications. The aim of this study was to establish a stable method for the isolation, culture, and validation of the CD34⁺ VW-SCs from mice, and to provide abundant and reliable cell sources for further study of the mechanisms involved in proliferation, migration and differentiation of the VW-SCs under various physiological and pathological conditions. The vascular wall cells of mouse aortic adventitia and mesenteric artery were obtained by the method of tissue block attachment and purified by magnetic microbead sorting and flow cytometry to obtain the CD34⁺ VW-SCs. Cell immunofluorescence staining was performed to detect the stem cell markers (CD34, Flk-1, c-kit, Sca-1), smooth muscle markers (SM22, SM MHC), endothelial marker (CD31), and intranuclear division proliferation-related protein (Ki-67). To verify the multipotency of the isolated CD34⁺ VW-SCs, endothelial differentiation medium EBM-2 and fibroblast differentiation medium FM-2 were used. After culture for 7 days and 3 days respectively, endothelial cell markers and fibroblast markers of the differentiated cells were evaluated by immunofluorescence staining and q-PCR. Furthermore, the intracellular Ca²⁺ release and extracellular Ca²⁺ entry signaling were evaluated by TILLvisION system in Fura-2/AM loaded cells. The results showed that: (1) High purity (more than 90%) CD34⁺ VW-SCs from aortic adventitia and mesenteric artery of mice were harvested by means of tissue block attachment method and magnetic microbead sorting; (2) CD34⁺ VW-SCs were able to differentiate into endothelial cells and fibroblasts in vitro; (3) Caffeine and ATP significantly activated intracellular Ca²⁺ release from endoplasmic reticulum of CD34⁺ VW-SCs. Store-operated Ca²⁺ entry (SOCE) was activated by using thapsigargin (TG) applied in Ca²⁺-free/Ca²⁺ reintroduction protocol. This study successfully established a stable and efficient method for isolation, culture and validation of the CD34⁺ VW-SCs from mice, which provides an ideal VW-SCs sources for the further study of cardiovascular diseases.
Mice ; Animals ; Endothelial Cells ; Cell Differentiation/physiology* ; Stem Cells ; Adventitia ; Fibroblasts ; Cells, Cultured ; Antigens, CD34/metabolism*

OBJECTIVES: To investigate the clinical treatment outcomes and the changes of the outcomes over time in extremely preterm twins in Guangdong Province, China. METHODS: A retrospective analysis was performed for 269 pairs of extremely preterm twins with a gestational age of <28 weeks who were admitted to the department of neonatology in 26 grade A tertiary hospitals in Guangdong Province from January 2008 to December 2017. According to the admission time, they were divided into two groups: 2008-2012 and 2013-2017. Besides, each pair of twins was divided into the heavier infant and the lighter infant subgroups according to birth weight. The perinatal data of mothers and hospitalization data of neonates were collected. The survival rate of twins and the incidence rate of complications were compared between the 2008-2012 and 2013-2017 groups. RESULTS: Compared with the 2008-2012 group, the 2013-2017 group (both the heavier infant and lighter infant subgroups) had lower incidence rates of severe asphyxia and smaller head circumference at birth (P<0.05). The mortality rates of both of the twins, the heavier infant of the twins, and the lighter infant of the twins were lower in the 2013-2017 group compared with the 2008-2012 group (P<0.05). Compared with the 2008-2012 group, the 2013-2017 group (both the heavier infant and lighter infant subgroups) had lower incidence rates of pulmonary hemorrhage, patent ductus arteriosus (PDA), periventricular-intraventricular hemorrhage (P-IVH), and neonatal respiratory distress syndrome (NRDS) and a higher incidence rate of bronchopulmonary dysplasia (P<0.05). CONCLUSIONS There is a significant increase in the survival rate over time in extremely preterm twins with a gestational age of <28 weeks in the 26 grade A tertiary hospitals in Guangdong Province. The incidences of severe asphyxia, pulmonary hemorrhage, PDA, P-IVH, and NRDS decrease in both the heavier and lighter infants of the twins, but the incidence of bronchopulmonary dysplasia increases. With the improvement of diagnosis and treatment, the multidisciplinary collaboration between different fields of fetal medicine including prenatal diagnosis, obstetrics, and neonatology is needed in the future to jointly develop management strategies for twin pregnancy.
Bronchopulmonary Dysplasia/epidemiology* ; Female ; Gestational Age ; Humans ; Infant ; Infant, Extremely Premature ; Infant, Newborn ; Pregnancy ; Respiratory Distress Syndrome, Newborn/epidemiology* ; Retrospective Studies ; Treatment Outcome