OBJECTIVE: To explore the genetic mechanism underlying a case with para-Bombay phenotype. METHODS: The ABO and Lewis phenotype were identified with serological methods. The coding regions of exons 6 and 7 of the ABO and FUT1 genes were amplified with PCR and directly sequenced. Haploid sequence analysis was carried out on the variant sites of the FUT1 gene. RESULTS: Serological analysis confirmed that the proband has a rare para-Bombay phenotype. Direct sequencing revealed that he was a B.01/O.01.02 heterozygote for the ABO gene, and had heterozygous deletion for the 768 and 881-882 sites of the FUT1 gene. Further haploid analysis showed that the c.881_882delTT deletion has occurred in one haploid while c.768delC was present in the other haploid. The proband was therefore determined as a FUT1*01N.13/01N.20 heterozygote, which have resulted in frameshift in polypeptide chain p.Phe294Cysfs*40 and p.Val257Phefs*23, respectively. CONCLUSION A rare bi-allelic heterozygous deletion of para-Bombay phenotype has been identified in a blood donor. The c.881_882delTT and c.768delC deletions may decrease the activity of α-1,2-fucosyltransferase.
Animals ; Male ; ABO Blood-Group System/genetics* ; Alleles ; Fucosyltransferases/genetics* ; Genotype ; Heterozygote ; Mutation ; Phenotype ; Humans

Objective:To examine treatment outcomes of breast phyllodes tumors and the prognosis factors of local recurrence.Methods:This retrospective cohort study included 276 patients who underwent surgical resection at Breast Center, Peking University People′s Hospital from January 2011 to December 2019. Tumor subtype and histopathological features were determined from pathology reports, and the deadline of follow-up was September 30 th, 2020. All 276 patients underwent open surgery, including 17 patients of mastectomy, and 259 patients of lumpectomy. The enrolled patients were all female, with age of (41.5±11.3) years (rang: 11 to 76 years), and tumor diameter of 35(28) mm ( M( Q R)). The Kaplan-Meier method and Log-rank test were used for survival analysis. The multivariate analysis was implemented using the Cox proportional hazard model. Results:According the pathologic test, there were 191 patients of benign phyllodes tumor, 67 patients of borderline tumor and 18 patients of malignant tumor. There were 249 patients with a follow-up of more than 6 months, and 14.1% (35/249) had local recurrence. The time-to-recurrence was (28.6±22.2) months (range: 2 to 96 months), (29.1±18.1) months (range: 2 to 80 months), (32.1±30.1) months (range: 5 to 96 months) and (12.0±6.9) months (range: 8 to 20 months) for benign, borderline and malignant phyllodes tumors. Tumor diameter (≥100 mm vs.<50 mm, HR=3.968, 95%CI: 1.550 to 10.158, P=0.004) and malignant heterologous element (yes vs. no, HR=26.933, 95%CI: 3.105 to 233.600, P=0.003) were prognosis factors of local recurrence. One death from malignant phyllodes occurred after distant metastasis. The 3-year disease-free survival rates of benign, borderline and malignant phyllodes tumor were 88.2%, 81.7% and 81.4% ( P=0.300). Conclusion:Phyllodes tumors have a considerable local recurrence rate, which may be associated with tumor diameter and malignant heterologous element.

Objective:To examine treatment outcomes of breast phyllodes tumors and the prognosis factors of local recurrence.Methods:This retrospective cohort study included 276 patients who underwent surgical resection at Breast Center, Peking University People′s Hospital from January 2011 to December 2019. Tumor subtype and histopathological features were determined from pathology reports, and the deadline of follow-up was September 30 th, 2020. All 276 patients underwent open surgery, including 17 patients of mastectomy, and 259 patients of lumpectomy. The enrolled patients were all female, with age of (41.5±11.3) years (rang: 11 to 76 years), and tumor diameter of 35(28) mm ( M( Q R)). The Kaplan-Meier method and Log-rank test were used for survival analysis. The multivariate analysis was implemented using the Cox proportional hazard model. Results:According the pathologic test, there were 191 patients of benign phyllodes tumor, 67 patients of borderline tumor and 18 patients of malignant tumor. There were 249 patients with a follow-up of more than 6 months, and 14.1% (35/249) had local recurrence. The time-to-recurrence was (28.6±22.2) months (range: 2 to 96 months), (29.1±18.1) months (range: 2 to 80 months), (32.1±30.1) months (range: 5 to 96 months) and (12.0±6.9) months (range: 8 to 20 months) for benign, borderline and malignant phyllodes tumors. Tumor diameter (≥100 mm vs.<50 mm, HR=3.968, 95%CI: 1.550 to 10.158, P=0.004) and malignant heterologous element (yes vs. no, HR=26.933, 95%CI: 3.105 to 233.600, P=0.003) were prognosis factors of local recurrence. One death from malignant phyllodes occurred after distant metastasis. The 3-year disease-free survival rates of benign, borderline and malignant phyllodes tumor were 88.2%, 81.7% and 81.4% ( P=0.300). Conclusion:Phyllodes tumors have a considerable local recurrence rate, which may be associated with tumor diameter and malignant heterologous element.

Objective To investigate the serum levels and clinical significances of microRNA-335 (miR-335) and microRNA-155 (miR-155) in patients with primary gallbladder cancer (PCG).Methods A total of 96 PCG patients (PCG group) and 50 healthy controls (control group) admitted to the Second People's Hospital of Hainan Province from January 2016 to October 2018 were selected.Real-time quantitative PCR (RT-PCR) was used to detect the serum levels of miR-335 and miR-155 in each group.The relationships between miR-335 and miR-155 levels and clinical pathological characteristics of PCG patients were analyzed.The diagnostic value of miR-335 and miR-155 in PCG was analyzed by ROC curve.Results The serum level of miR-335 in PCG group was significantly lower than that in the control group (1.50 ± 0.42 vs.3.65 ± 1.18,t =10.319,P ＜0.001).The serum level of miR-155 in PCG group was significantly higher than that in the control group (3.18 ±0.61 vs.0.74±0.12,t =13.627,P＜0.001).The serum levels ofmiR-335 and miR-155 in PCG patients were correlated with TNM stage (t =4.863,P =0.024;t =5.117,P =0.008) and lymph node metastasis (t =5.725,P ＜ 0.001;t =6.802,P ＜ 0.001).ROC curve analysis showed that the critical values of serum miR-335 and miR-155 for diagnosing PCG were 1.18 and 2.35,respectively.The area under the curve of the two combined diagnosis of PCG (0.920,95％ CI:0.863-0.977) was the largest,with sensitivity and specificity of 93.8％ and 85.7％.Conclusion The low serum level of miR-335 and high level of miR-155 are associated with the higher TNM stage and lymph node metastasis of PCG,and the combined detection of the two is helpful to improve the diagnostic rate of PCG.

BACKGROUND:Primates are considered to be the most appropriate animal model of lumbar intervertebraldisc degeneration, but the disc degenerated characteristics of monkeys were rarely reported. OBJECTIVE:To verify the degenerated regularity and characteristics of lumbar intervertebral disks in rhesus monkeys with magnetic resonance T2 mapping and T1ρimaging technology. METHODS:The sagittal lumbar intervertebral disc magnetic resonance T2 weighted imaging,T2 weighted mapping imaging and T1ρweighted imaging of 63 adult rhesus monkeys were acquired on 1.5T magnetic resonance equipment. The T2-map value and T1ρvalue of lumbar intervertebral disc regions of interest were calculated on the post-processing workstation. RESULTS AND CONCLUSION:(1) This study obtained 425 better magnetic resonance images of lumbar intervertebral disks in adult rhesus monkeys. T2-map value and T1ρvalue of nucleus pulposus were most consistent by different persons, and the Kappa coefficient was more than 0.93. (2) The T2-map value and T1ρvalue of nucleus pulposus were both negatively correlated significantly with Pfirrmann grades (r=-0.842, P<0.01;r=-0.896, P<0.01). The T1ρvalue and T2-map value of nucleus pulposus were significantly statistical y different between Pfirrmann grades I-IV (P<0.001, P<0.001). The T1ρvalue of nucleus pulposus was negatively correlated significantly with Pfirrmann grade II-III (r=-0.517, P<0.01) and Pfirrmann grade IV-V (r=-0.499, P<0.01). The T2-map value of nucleus pulposus was also negatively correlated significantly with Pfirrmann grade II-III (r=-0.617, P<0.01) and Pfirrmann grade IV-V (r=-0.652, P<0.01). (3) The T2-map value of L1-2 and L2-3 segments nucleus pulposus were significantly lower than that in L6-7 and L7-S1 segments (P<0.05). (4) There were significant differences in age among the T1ρvalue and T2-map value of nucleus pulposus (r=-0.702, P<0.001, r=-0.730, P<0.001). (5) It is concluded that magnetic resonance T2 mapping and T1ρimaging technology can objectively and sensitively assess the degenerated process of nucleus pulposus in rhesus monkeys. The degeneration in upper lumbar segments (L1-2 and L2-3) was earlier and more severe than that in lower lumbar segments (L6-7 and L7-S1) in rhesus monkeys. Age is one of the most important factors in lumbar intervertebral disc degeneration of adult rhesus monkeys.

Objective CD44, a cell surface glycoprotein, plays an important role in tumor growth and glycolysis.The aim of this study was to investigate the effects of neutralizing CD44 antibodies on the growth and glycolytic metabolism of B16 cells in melanoma in vitro.Methods B16 cells were treated with control antibodies (50 μg/mL) or different concentrations of CD44 antibodies (2, 10, and 50 μg/mL) for 24 hours, followed by examination of the activation of the AKT pathway in the B16 cells by Western blot.Then the tumor cells were also treated with control antibodies (50 μg/mL) or CD44 antibodies (50μg/mL) after pretreated with API-2 (4 μmol/L) in a parallel test.After 48 hours of treatment, the expression of lactate dehydrogenase A (LDHA) in the B16 cells and the level of lactate in the culture supernatant were detected by immunofluorescence and colorimetry, respectively.Lastly, the B16 cells were treated with control antibodies (50μg/mL), API-2 (4 μmol/L), CD44 antibodies (50μg/mL), or API-2 + CD44 antibodies for 96 hours, followed by measurement of the proliferation of the cells by MTT and their apoptosis by AO/EB and AnnexinV staining.Results In comparison with the control antibody group, the level of AKT phosphorylation (p-AKT) in the B16 cells showed a concentration-dependent increase in the 2, 10, and 50 μg/mL CD44 antibody groups (1.00±0.25 vs 2.51±0.32, 3.89±0.46, and 4.07±0.42, P<0.01), and the expression of LDHA was increased by (2.13±0.24) times, with the lactate level in the culture supernatant significantly elevated from (35.32±3.24) to (56.34±8.19) mmol/L (P<0.01) after 96 hours of treatment with 50 μg/mL CD44 antibodies.Treatment with API-2+CD44 antibodies, however, suppressed the increase in the LDHA expression and reduced the level of lactate.Compared with the control antibody group, the proliferation rate of the B16 cells was markedly decreased in the API-2, CD44 antibody, and API-2+CD44 antibody groups ([103±12.91] vs [84.87±19.35], [71.35±16.23], and [41.16±9.15]%, P<0.05), while the apoptosis rate remarkably increased ([5.23±0.96] vs [13.65±4.27], [19.21±3.53], and [43.21±7.87]%, P<0.01).Conclusion Neutralizing the function of CD44 in the B16 cells in vitro can inhibit the growth of the cells and promote AKT-mediated glycolytic metabolism, while suppressing the AKT pathway may enhance the antitumor activity of the CD44 antibody.

Objective To investigate the diagnosis value of mucin 7 in plasma and urine in the detection of bladder cancer.Methods Expression of mucin 7 was detected quantitatively in plasma and urine from 23 patients with bladder cancer and 23 patients as control group by enzyme-linked immunosorbent assay(ELISA) from November 2012 to September 2013.There were 15 were male and 8 were female in the 23 bladder cancer patients,aged from 41 to 95 years,with an average of 64 years.Of the 23 bladder cancer pathology,12 with high grade,11 with low grade,11 with invasive disease and 12 with noninvasive disease.There were 19 males and 4 females in the 23 patients in control group,aged from 28 to 85 years,with an average of 61 years.Results The amount of mucin 7 in plasma was significantly higher in bladder cancer group than that in control group [(7.43±4.54) ng/ml versus (4.55±.1.98) ng/ml,P=0.017].While there was no significant difference in urine between the two groups [(12.44±7.1 1) ng/ml versus (11.96±8.41)ng/ml,P=0.840].There was no significant differences in the amount of mucin 7 had in different grades and stages of bladder cancer (P＞0.05).Conclusions Expression of mucin 7 in plasma of patients with bladder cancer is significantly higher than that in control group.Mucin 7 expression has no significant correlation with the grading and staging of bladder cancer.Detecting mucin 7 expression quantitatively with ELISA for diagnosis of bladder cancer is a method with certain value.

Objective To observed the expression of serum TNF-α and IL-10 in rats with severe acute pancreatitis (SAP) at different altitudes,and to explore the relationships between TNF-α and IL-10,the pathological changes of the pancreas,and the experimental basis for clinical diagnosis and treatment of SAP.Methods 72 specific pathogen free (SPF) Wistar male rats were divided randomly into three groups:1 500 meters altitude (group L),3 300 meters altitude (group M),and 4 300 meters altitude (group H).These three groups were then each divided randomly into four subgroups:control (group n),6 hours after pancreatitis (group p 6 h),12 hours after pancreatitis (group p 12 h),and 24 hours after pancreatitis (group p 24 h).Pancreatitis was induced by intraductal administration of 5％ sodium taurocholate hydrate (NaTc).The rats were killed at 6,12,and 24 hours after NaTc injection in groups p.The group n rats were killed after 6 hours of pancreas observation.Blood samples and pancreatic tissues were collected post mortem and enzyme-linked immunosorbent assay (ELISA) measured serum TNF-α and IL-10.Results Compared with the control (group n),histopathological scores,IL-10,and TNF-α in the same altitude had a significant difference (P ＜ 0.05) in group p at each time point.In the same altitude of group p,histopathological scores and IL-10 were increased with time elapsed (P ＜ 0.05),while TNF-α was decreased with time elapsed (P ＜ 0.05).There was a significant difference between group Mp and Lp in histopathological scores,IL-10,and TNF-α (P ＜ 0.05),and the same result between group Hp and Lp (P ＜ 0.05),but there was no significant difference between group Hp and Mp (P ＜ 0.05).Meanwhile,IL-10 had a positive relationship with histopathological score,but TNF-α had a negative relationship with histopathological score.Conclusions The level of TNF-α increased with increasing altitude but significantly reduced with elapsed time.The level of IL-10 increased with both increasing altitude elapsed time.These results suggested that TNF-o and IL-10 might play a important role at different times in severe acute pancreatitis.

Objective To observe the nursing efficacy of cluster-based care for bronchial asthma.Methods 100 cases with bronchial asthma were randomly divided into the study group and the control group with 50 patients in each group.The control group received usual care,and the study group received cluster-based care model.Curative effect,the total of the cases received inhalation therapy correctly,compliance of inhalation therapy,degree of satisfaction to nursing services in the two groups were compared.Results The curative effect in the study group were better significantly than the control group (86％ vs 58％).The cases received inhalation therapy correctly in the study group were more than the control group (92％ vs 72％).The compliance of inhalation therapy in the study group was significantly higher than the control group(90％ vs 80％).The degree of satisfaction to nursing services in the study group were significantly higher than the control group (98％ vs 86％).Conclusions Cluster-based care had good effect on patients with bronchial asthma.

Objective To assess the effectiveness and safety of vitamin D in preventing and treating bone loss in renal transplant patients.Methods Methods recommended by the Cochrane Collaboration were used.MEDLINE,EMBase,Cochrane Library and CNKI were searched from Jan.1990 to Nov.2009 to locate all the randomized controlled trials (RCT) concerning preventing and treating bone loss by vitamin D in renal transplant patients.The qualities of included trials were evaluated by two independent reviewers.Trails consistent with criteria wereanalyzed by Revman 4.2 software.Results Nine RCTs involving 658 post transplant patients were included.The qualities of included trials were graded as grade A in 4,grade B in 2 and grade C in 3.Meta-analysis showed that after being treated with vitamin D for one year,the difference of BMD,Z-score and T-score between the two groups was statistically significant (P＜ 0.05); the difference of PTH concentration was also statistically significant (P＜0.01),but there was no significant difference in concentrations of serum calcium and phosphorus,and the incidence of hypercalcemia (P＞0.05).Conclusion Current available evidence demonstrates that vitamin D is effective and safe in preventing and treating bone loss in renal transplant patients.