The paper reported a patient under maintained hemodialysis for 11 years, with a large mass appeared in the right thigh after local injury. The mass was clinically considered as tumoral calcinosis combined with clinical, imaging and pathological findings. Several treatments such as enhancing dialysis adequacy, low calcium dialysate, calcimimetic agent, non-calcium- phosphorus binding agents, parathyroidectomy and intravenous infusion of sodium thiosulfate could not vanish the mass. Finally, the lump was surgically removed. The treatment of tumoral calcinosis in the hemodialysis patient can provide a instruction for similar situations in clinical practice.

Abstract： Objective　To establish a screening-diagnosis-evaluation system of neonatal congenital heart disease (CHD) suitable for Hainan Province based on the application of percutaneous blood oxygen saturation measurement and cardiac auscultation screening, and to provide a basis for further promotion of the evaluation effect. Methods　Screening agencies (all midwifery institutions) used the "double index method" to screen newborns for congenital heart disease. Those who were screened positive for any index were transferred to diagnostic institutions (the people's hospitals of all cities and counties and some tertiary hospitals) for echocardiography examination within 1 week. Those with abnormal results were transferred to the treatment institution (two tertiary hospitals) for reconfirmation and evaluation. All data were managed online. Results　In this study, 96 913 newborns born in midwifery institutions in 19 cities and counties were screened, with a response rate of 99.44%. The ratio of male infants (50 836) to female infants (46 077) was 1.10∶1. A total of 2 284 positive patients were screened by dual index method, and ultrasound diagnosis was performed, with the rate of cardiac ultrasonography of 98.07% (2 240/2 284) and a high response rate. A total of 238 cases of congenital heart disease were diagnosed (incidence rate of 0.25%), with the top three main types were ventricular septal defect, atrial septal defect, and patent ductus arteriosus. The sensitivity (88.24%) and Youden index (0.86) of dual-indicator screening for CHD detection were significantly higher than the other separate indicators. Through Kappa consistency test analysis, the consistency of dual-indicator screening with simple heart murmur screening results was excellent, with a Kappa coefficient value of 0.835 (>0.75); the consistency of dual-indicator screening and simple POX screening results was good, with a Kappa coefficient value of 0.429 (between 0.40-0.75), and the differences were statistically significant (P<0.001). By the end of the study, 136 children had undergone open-chest/occlusion surgery, with good postoperative recovery, and the rest were followed up. Conclusions　The neonatal CHD screening-diagnosis-assessment technology system established in this study, with close connections between various blocks, high screening response rate and echocardiography examination rate, is beneficial for the early diagnosis and treatment of CHD children, and has certain application value in institutions at all levels in Hainan Province, and is worth further promotion.

Objective:To investigate the clinical characteristics and therapeutic effect of adult primary hemophagocytic syndrome (HPS).Methods:The clinical data of a patient with primary HPS in the Third Affiliated Hospital of Southern Medical University in July 2017 were retrospectively analyzed, and the related literature was reviewed.Results:The patient was a 53-year-old female without history of basic disease, presenting as repeated high fever, with mutation of STXBP2 (FHL5), and was diagnosed as HPS according to hemophagocytic lymphohistiocytosis (HLH)-2004 criteria. The patient was treated with HLH-2004 regimen, and the efficacy was good. The patient was followed up until May 2021, and the overall survival time was 45 months.Conclusions:The atypical primary HPS and delayed primary HPS are rare, with mild clinical symptoms and only manifested by repeated high fever. Therefore, the gene mutations associated with HPS should be detected as soon as possible to confirm the diagnosis and to treat the disease early.

Objective To evaluate and compare the value of predicting diseases such as hypertension and arteriosclerosis of the body mass index(BMI) and percent body fat(PBF),so as to provide the basis for evaluation of obesity.Methods Totally 3149 common residents in Jiangsu province were surveyed using the method of stratified and cluster sampling.Effective data included height,weight,PBF,blood pressure and brachial-ankle pulse wave velocity(baPWV).Obesity was defined by percent body fat with the evaluation of WHO and ASBP.Areas under ROC curves(AUC)of BMI and PBF were estimated by the nonparametric test and then the two diagnostic tests were compared by predictive value of related diseases.Results(1)Predictive value of BMI to diagnose obesity(defined by PBF):AUC are respectively 0.949(for WHO standard)、0.906(for ASBP standard)in women and 0.864 in men.In age group,the 20-39 years have the highest AUC of BMI to predict obesity.P＜0.01 for above nonparametric tests.(2)According to ROC curves we got the adjusted cut-off points of BMI are respectively 26 kg/m2 in men and 25 kg/m2 in women for WHO standard or 26 kg/m2 in men and 23 kg/m2 in women for ASBP standard,while the specificity of predicting obesity decreased from 90％ ～ 99％ to 76％ ～87％,but the sensitivity significant increased from 17％ ～ 43％ to 78％ ～ 89％;After adjusting the cutoff points of BMI,the value of kappa of prevalence of obesity increased from 0.475 to 0.537 in men and 0.115 to 0.655 in women.(3)To predict hypertension,areas of BMI were 0.688(95％CI:0.656-0.720) in men and 0.745 (95％CI:0.708-0.782) in women,similarly,of PBF were 0.687 (95％CI:0.655-0.718) in men and 0.723(95％CI:0.681-0.764)in women;To predict arteriosclerosis there showed highly consistency that the areas of BMI were 0.613(0.586-0.641)in men and 0.692(95％CI:0.659-0.726)in women,meanwhile,for PBF they were 0.635 (95％CI:0.608-0.663) in men and 0.683 (95％CI:0.648-0.718) in women (P＜0.01).(4) Paired test of the two areas under ROC curves showed that PBF had higher diagnostic value than BMI in men to predict arteriosclerosis(u=2.05,P＜0.05),however,no statistical difference in women(u=0.75,P＞0.05)and in predicting hypertension(u=0.75 to men and u=1.26 to women,P＞ 0.05).Conclusions Using BMI and PBF can all predict hypertension and arteriosclerosis effectively,thus,obesity can be evaluated suitably by both BMI and PBF in large-scale population study,especially in women and youth.Relatively,WHO standard of PBF is more suitable for Chinese population to evaluate obesity than ASBP standard.

BACKGROUNDPartial tandem duplication of mixed lineage leukaemia (MLL-PTD) is detected both in patients with acute leukemia and in healthy people. However, MLL-PTD in relatives of patients with MLL-PTD has not been reported. The objective of this study was to investigate the expression of MLL-PTD in patients with acute leukemia and in their relatives.

METHODSThe bone marrow or peripheral blood was collected from patients with acute leukaemia and their relatives. Nested reverse transcription-polymerase chain reaction (RT-PCR) was applied to detect the mRNA expression of the MLLPTD fused gene, and further confirm in genomic DNA level.

RESULTSAnalysing MLL-PTD in case 1, the patient's older brother and his younger brother were positive, while his mother and his son were negative. The exon type in case 1 was e9/3 fusion, but in his older brother, it was e9/3 and e11/3 fusion, and in his younger brother, it was e9/3, e10/3, and e11/3 fusion. MLL-PTD in case 2 was negative, but in the patient's older sister was positive, and the exon type was e9/3, e10/3, and e11/3.

CONCLUSIONSThe expression of MLL-PTD was present in cases with acute leukaemia with a single expression type. However, various expression types were detected in their healthy relatives. MLL-PTD can couple with other chromosome aberrations, and its impact on disease prognosis remains to be studied further.

Acute Disease ; Chromosome Aberrations ; Female ; Humans ; Leukemia, Myeloid, Acute ; genetics ; Male ; Myeloid-Lymphoid Leukemia Protein ; genetics ; Reverse Transcriptase Polymerase Chain Reaction

BACKGROUND: Al ogeneic hematopoietic stem cel transplantation is the main method to cure leukemia, but the patients receiving al ogeneic hematopoietic stem cel transplantation stil have to face the risk of recurrence. Myeloid sarcoma is a rare extramedul ary relapse mode with worse clinical outcomes, so it is necessary to understand the characteristics of myeloid sarcoma and relative treatment methods. OBJECTIVE: To analyze the clinical characteristics and treatment methods of myeliod sarcomas in cardio-phrenic angle after al ogeneic peripheral blood stem cel transplantation. METHODS: One case was diagnosed as single myeloid sacoma in the cardio-phrenic angle after al ogeneic peripheral blood stem cel transplantation. The patient underwent surgical resection of the mass, chemotherapy and radiotherapy. The clinical effect, complications and survival situation were observed. RESULTS AND CONCLUSION: The patient suffered from bacteremia, fungal pneumonia and even life-threatening sepsis shock during two courses chemotherapies. Then, the patient received radiotherapy for mediastinum and the myeloid sacoma never relapsed. However, the patient suffered central nervous system leukemia after free of the disease for 25 months. Myeliod sarcoma after al ogeneic hematopoietic stem cel transplantation is rare and its manifestation is changeful. The diagnosis mainly depends on histopathology and immunohistochemistry. Surgery, chemotherapy, radiotherapy, second transplantation and molecular targeted drugs are the choices of treatment strategy. However, the optimal treatment strategy for individual patients remains to be determined.

Objective To explore the resistance and molecular mechanisms underlying the anticancer activity of daunorubicin in CD34 +acute myeloid leukemia(AML) cells. Methods CD34 +AML cell lines(KG1a and Kasu-mi-1)were used as objectives, and CD34 -AML cell line U937 was used as positive control. Western blot analysis was used to examine the protein expression of Bcl-2 and Bax in CD34 +AML and CD34 -AML cell lines incubated with/without daunorubicin to compare the sensitivity of CD34 +AML and CD34 -AML cells to daunorubicin. SiRNA against Bcl-2 was used in KG1a and Kasumi-1 cells and examined the effect on cell viability by MTT assay. Results Western blot analysis showed that Bcl-2 protein levels in CD34 +AML cells appeared to be significantly higher than in CD34 -AML cells. Western blot analysis showed that treatment with 0.4 μg/ml daunorubicin for 48 h caused down-regulation of Bcl-2 only in CD34 -AML cells,but not in CD34 +AML cells. Suppression of Bcl-2 with siRNA increased the susceptibility of KG1a and Kasumi-1 to daunorubicin. Conclusion CD34 +AML cell lines ex-press higher levels of Bcl-2 protein. Daunorubicin fails to down-regulate the high Bcl-2 protein levels in CD34 +AML cells. Suppression of Bcl-2 with siRNA increases the susceptibility of KG1a and Kasumi-1 to daunorubicin. The high Bcl-2 protein levels in CD34 +AML cells may be involved in the insensitivity to daunorubicin.

ObjectiveTo unify the definitions of colonoscopic characteristics of Crohn disease (CD) and intestinal tuberculosis ( ITB),and to evaluate colonoscopic and clinical features in the differential diagnosis of CD and ITB.MethodsA collaborative group composed of 10 experts from 5 hospitals voted to identify and confirm the colonoscopic characteristics.Clinical and colonoscopic characteristics were analyzed,thereafter,characteristics were scored based on different diagnostic specificity.ROC curve was used for determining the cutoff point to differentiate CD from ITB.ResultsFirstly,standard endoscopic images and descriptions were determined.Secondly,colonoscopic parameters which were significantly different between the CD and ITB patients included the follows:involvement of more than four intestinal segments,anorectal involvement,longitudinal ulcers,cobblestone appearance and transverse ulcers.Clinical findings which were significantly different between the CD and ITB patients included active pulmonary tuberculosis,PPD-test strong positive,anal fistula/perianal abscess and extra-intestinal manifestations in CD.4.4％(6/136) patients were confirmed by histological evidence of caseating granulomas.By using our scoring system,39.7％ (54/136) confirmed diagnoses and 18.4％ (25/136) suspected diagnoses were made in patients without histological evidence.ConclusionIdentification of colonoscopic characteristics and unification of the colonscopic diagnostic criteria were helpful in the differential diagnosis between CD and ITB.The differential diagnosis rate could he improved by using the scoring system.Half cases could not be confirmed even with combined pathology and the scoring system,so a more comprhensive scoring system would be warranted.

OBJECTIVETo investigate the apoptosis inducing effects of ponicidin (PON) on leukemic K562 cells and its mechanisms of action.

METHODK562 cells in culture medium in vitro were given different concentrations of PON (10-50 micromol x L(-1)) for 24, 48 and 72 h. The inhibitory rate of the cells was measured by MTT assay, cell apoptotic rates were detected by flow cytometry (FCM) using Annexin V staining after K562 cells were treated with different concentrations of PON for 72 hours, and cell morphology was observed by Wright-Giemsa staining. Western blot was used to detect caspase-3 and poly(ADP-ribose) polymerase (PARP) expression, and the protein levels in mitogen-activated protein kinase signaling pathways (MAPKs, p-P38, p-ERK and p-JNK) as well as p-AKT and p-P85 in PI3K/AKT signaling pathways were also detected.

RESULTPON (over 30 micromol x L(-1)) could inhibit the growth of K562 cells in both time- and dose-dependent manner. FCM analysis revealed that apoptotic cells were gradually increased in a dose-dependent manner after treatment for 72 hours, and that marked morphological changes of cell apoptosis such as condensation of chromatin was clearly observed by Wright-Giemsa staining after treatment by 50 micromol x L(-1) PON. Western blot showed cleavage of the caspase-3 zymogen protein (32 kD), with the appearance of its 17 kD subunit, and a cleaved 89 kD fragment of 116 kD PARP was also found. Furthermore, Western blotting also showed that expression of p-AKT and p-P85 in PI3K/AKT signaling pathways was downregulated dramatically whereas the expression of p-P38 as well as p-ERK and p-JNK remained unchanged after the cells were treated by PON for 48 h.

CONCLUSIONThe results demonstrate that PON exhibits in vitro anti-leukemia effect by induction of apoptosis in K562 cells, and that PON induced apoptosis in K562 cells mainly related to activation of caspase-3 as well as inactivation of PI3K/AKT signaling pathway via down regulation of the expression of p-AKT and p-P85 protein levels. These results provide strong laboratory evidence for further anti-leukemia trials of PON.

Apoptosis ; drug effects ; Blotting, Western ; Caspase 3 ; metabolism ; Cell Line, Tumor ; Diterpenes ; pharmacology ; Humans ; Poly(ADP-ribose) Polymerases ; metabolism ; Signal Transduction ; drug effects

Objective To investigate the mechanisms of oridonin inducing apoptosis on acute leukeamia NB4 cells and its mechanism. Methods NB4 cells in culture medium in vitro were given with different concentrations (8, 16, 24, and 32 μmol/L) of oridonin. The inhibitory rate of the cells was measured by MTT assay, cell apoptotic rate was detected by flow cytometry (FCM), morphology of apoptosis was observed by Hoechst 33258 fluorescence staining, DNA fragmentation was assayed by agarose gel electrophoresis, caspase-3 expression was detected by Western blotting, and caspase-3 activity was assayed with colorimetric assay kit before and after apoptosis occurred. Results Oridonin (over 16 μmol/L) could inhibit the growth of NB4 cells and cause apoptosis significantly, the suppression was both in a timeand dose-dependent manner. Marked changes of apoptosis including condensation of chromatin and nuclear fragmentation were observed very clearly by Hoechst 33258 fluorescence staining and a characteristic "ladder" of DNA fragments was elicited by agarose gel electrophoresis; Western blot analysis revealed that caspase-3 was activated by the loss of caspase-3 proenzyme (32 kDa) and the appearance of its 20 kDa subunit, and that along with the apoptotic process caspase-3 activity was increased concurrently. Conclusion Oridonin can induce apoptosis in NB4 cells via activation of caspase-3. These results will provide laboratory evidence for the clinical treatment of acute leukemia with oridonin.