Objective: Duchenne and Becker muscular dystrophy (DMD/BMD) is an X-linked lethal recessive disease caused by mutations in the dystrophy gene. There is no efficient treatment for this serious and disabling disease. We established a combination method to detect carriers and perform prenatal diagnosis. Methods: In our study, from 1994 to 2005, using a different combination of 5 methods, including SRY gene amplification, multiplex PCR, multiplex Fluorescence PCR capillary electrophoresis, multiplex ligation-dependent probe amplification (MLPA) and linkage analysis of short tandem repeats (STR), 36 prenatal diagnosis were performed for pregnancies at risk of having a DMD/BMD baby through amniocentesis. Results: Fourteen out of 21 male fetuses were found to be affected and respective pregnancies were terminated. A combined diagnostic rate of 83% was achieved for 30 cases with deletions, duplications, and non-deletion mutations after tested by more than one method. Conclusion: Using a combined method, we can diagnoses patients and carriers in DMD families, and perform prenatal diagnosis for the risk fetus. MLPA provides a simple, rapid and accurate method for deletions and duplications of all the 79 DMD exons. MLPA method for DMD diagnosis is the first report in our country.

Objective To compare the efficacy and safety between flumatinib and imatinib in patients with newly diagnosed chronic myeloid leukemia (CML). Methods A multi-center, randomized and parallel comparison clinical trial was conducted in 24 newly diagnosed patients with Philadelphia chromosome-positive CML-chronic phase (Ph+ CML-CP) who were treated by flumatinib 400 mg/d, 600 mg/d or imatinib for 6 cycles (24 weeks). The hematology was evaluated at pre-medication and the 2nd, 4th, 6th, 8th, 10th, 12th, 16th, 20th, 24th week of post-medication. The morphology, cytogenetics and molecular biology were evaluated at pre-medication and 12th, 24th week of post-medication. Results In terms of efficacy, the main molecular remission (MMR) rate of flumatinib 600 mg/d group was higher than that of imatinib group after 24 weeks [44.44 % (4/9) vs. 14.29 % (1/7), P=0.017]. The rate of bcr-ablIS≤10 % in flumatinib 600 mg/d group was significantly higher than that in imatinib group (P=0.002). PK/PD analysis also hinted that patients treated by flumatinib 600 mg/d was more likely to get molecular reaction in the early stage compared with those treated by flumatinib 400 mg/d. In terms of safety, there was no significant difference in grade Ⅲ-Ⅳ of adverse events among flumatinib 400 mg/d group, flumatinib 600 mg/d group and imatinib group (P >0.05). The common adverse events in flumatinib group included skin toxicity, gastrointestinal reactions and diarrhea.There was no heart and cardiovascular toxicity in flumatinib group, and incidence of edema in flumatinib group was lower than that in imatinib group. Conclusions Flumatinib is a safe and effective drug for newly diagnosed patients with Ph+ CML-CP, and 600 mg/d is the appropriate clinical starting dose. Flumatinib and imatinib have similar safety in clinic.

Objective To evaluate the mental status of malignant hematologic patients, explore the morbidity of depression in malignant hematologic patients, and investigate valid interventional treatment on them. Methods 134 malignant hematologic patients were evaluated by SDS and HAMD, and 49 patientswere selected who was diagnosed depressive disorder then randomly divided into 2 groups. One was experimental group and the other control group. The patients of experimental group were treated with antidepressant drug and mental intervention during common therapy, while the patients of control group only took common therapy. The change of immunological function after treatment was detected. Results The morbidity of depression in malignant hematologic patients was 37 %. The scores of SDS and HAMD were significandy decreased and the depressive symptoms were notablely improved in experimental group and there were significant differences after treatment and before treatment (P <0.01), but there was no significant difference in control group (P >0.1). The NPY plasma levels significantly increased after treatment in experimental group(P <0.01), but there was no significant difference in control group(P >0.05); the CD+4/CD+4 values of patients in the experimental group were significantly increased after treatments. Statistical analysis revealed significant differences in the experimental group patients between pre-treat and after-treat (P <0,05),but no obvious difference in the patients of control group (P>0.5). Conclusion Mental intervention and antidepressive treatment can improve all of the depression, immunological function and quality of life of malignant hematologic patients.

Objective To evaluate the correlation between ultrasonography and histopathology in acute lung injury of rats.Methods Twenty male Wistar rats were randomly divided into control group (4 rats) and experimental group (16 rats),in the experimental group acute lung injury models were step-by-step induced by oleic acid (OA) and sequentially by OA and lipopolysaccharide (LPS).After the end of each step of models,ultrasound examination was applied,and the rats were sacrificed to take the lung specimens to be observed.The ultrasonography and pathological results were analyzed,and the numbers of alveolar were counted under microscope (200 times).Results With the aggravation of acute lung injury,the sonographic findings showed unclear or disappeared pleural line,close-set of B-lines,and pulmonary consolidation with air bronchogram.For control group,the ultrasonographic score was 0.25 ± 0.50,lung injury pathological score was 0.50 ± 0.58,and the numbers of alveolar were 25 ± 3.For OA group,the ultrasonographic score was 2.86-± 1.35,lung injury pathological score was 6.28-± 0.76,and the numbers of alveolar were 10-± 2.For OA + LPS group,the ultrasonographic score was 5.83-± 2.32,lung injury pathological score was 9.83 ± 0.98,and the numbers of alveolar were 6-± 2.All 3 groups were significant different on ultrasonographic score,pathological score and alveolar counts (P ＜ 0.01).Conclusions The ultrasonography image of acute lung injury of rats were positively correlated with its histopathological alteration.The ultrasonography can effectively evaluate the degree of acute lung injury of rats.

Objective To evaluate the color Doppler ultrasonography and contrast enhanced ultrasound (CEUS) findings of congenital intrahepatic portosystemic venous shunts (IPSVS).Methods Nineteen patients of congenital IPSVS were examined with color Doppler ultrasonography and CEUS.All patients were confirmed by CT angiography.The hepatic artery arrival time (HAAT),portal vein arrival time (PVAT),and hepatic vein arrival time (HVAT) on CEUS were recorded.The interval time between hepatic artery arrival time and hepatic vein arrival time (HA-HVTT) and the interval time between portal vein arrival time and hepatic vein arrival time (PV-HVTT) were calculated.Results The types of IPSVS between portal and systemic veins were based on Park's classification.Color Doppler ultrasonography showed abnormal communication between the portal vein branch and the hepatic veins,duplex Doppler ultrasonography showed abnormal spectral pattern from the portal vein such as undulating,triphasic waveform mimicked that of the hepatic vein.CEUS demonstrated abnormal communication between portal vein branch and hepatic vein.HVAT,HA-HVTT,and PV-HVTT were shorter statistically in congenital IPSVS group than those in cirrhosis and normal groups.Conclusions Congenital IPSVS is a rare vascular abnormality that is usually asymptomatic.Color Doppler ultrasonography is a useful tool for diagnosis of congenital IPSVS.CEUS provides helpful data for the diagnosis and differential diagnosis of congenital IPSVS.

Objective To assess the safety and feasibility of CT-guided percutaneous argon-helium cryoablation in the treatment of adrenal tumors.Methods 1 7 patients with adrenal tumors were treated with CT-guided percutaneous argon-helium cryoablation. Three of these patients were retreated second cryoablation three months later due to the lager tumor diameters.Percutaneous tran-scatheter arterial embolization was performed in four patients because of rich blood supply before cryoablation.Continuous arterial blood pressure monitoring was performed in eight pheochromocytoma patients.Results Technical success was achieved in all pa-tients.There were no serious complications.Eight pheochromocytoma patients experienced a significant increase in systolic blood pressure and diastolic pressure when compared with the basic values (P <0.05).There were no enhancement on enhanced CT and/or up-take on FDG PET-CT in the ablated zones during the follow-up period (3-24months).Conclusion It is safety and efficacy of CT-guided percutaneous argon-helium cryoablation for adrenal tumor.It might be initial treatment of choice for the patients who were not suitable for resection.

AIM:To review the 10 kinds of macroporous resin's absorption of total flavnoids to screen out the one which could separate the Baicalin,Baicalein,Wogonoside,Wogonin simultaneously. METHODS: By HPLC,using the content of Baicalin,Baicalein,Wogonoside,wogonin as the marker,adopting a static adsorbtion in combination with dynamic state. RESULTS: The difference in adsorption and desorption among macroporous resins and adsorption condition arose from four kinds of flavonoids. CONCLUSION: At a comprehensive estimate SP-825 resin was regarded as the ideal for adsorption and desorption.

Objective:To investigate the clinical efficacy of adjuvant therapy with low molecular weight heparin on nephrotic syndrome.Methods:Sixty-four patients with nephrotic syndrome who received treatment in Linyi People's Hospital between January 2018 and January 2020 were included in this study. They were randomly assigned to receive either conventional treatment combined with low molecular weight heparin treatment (observation group, n = 32) or conventional treatment (control group, n = 32) for 28 successive days. Before and after treatment, renal function indexes, blood lipid, coagulation function indexes, clinical efficacy, and adverse reactions were compared between the two groups. Results:After treatment, serum creatinine, urea nitrogen, 24-hour urinary protein, total cholesterol and triacylglycerol levels in the observation group were (109.21 ± 9.81) μmol/L, (5.35 ± 1.01) mmol/L, (1.12 ± 0.25) g/L, (5.12 ± 1.09) mmol/L, (1.52 ± 0.18) mmol/L, respectively, which were significantly lower than those in the control group [(120.54 ± 9.72) μmol/L, (6.05 ± 0.95) mmol/L, (1.42 ± 0.28) g/L, (6.92 ± 1.15) mmol/L, (1.96 ± 0.22) mmol/L, t = 4.641, 2.855, 4.521, 6.426, 8.756, all P < 0.05]. The activated partial thromboplastin time and prothrombin time in the observation group were (1.52 ± 0.18) seconds and (14.57 ± 1.70) seconds, respectively, which were significantly longer than those in the control group [(31.02 ± 4.59) seconds, (12.62 ± 1.67) seconds, t = -4.388, -4.628, both P < 0.05]. Total effective rate in the observation group was significantly higher than that in the control group [96.88% (31/32) vs. 75.00% (24/32), χ2 = 6.335, P < 0.05]. The time to relief of symptom in the observation group was significantly shorter than that in the control group [(3.12 ± 1.42) weeks vs. (5.04 ± 1.24) weeks, t = -5.761, P < 0.05). The incidence of adverse reactions in the observation group was significantly lower than that in the control group [3.13% (1/32) vs. 21.88% (7/32), χ2 = 5.143, P < 0.05]. Conclusion:Based on conventional treatment, adjuvant therapy with low molecular weight heparin for nephrotic syndrome can greatly improve clinical symptoms, increase clinical efficacy, and decrease the incidence of adverse reactions.

Objective To investigate whether TG2 promotes drug resistance to epirubicin through AKT signal pathway in breast cancer. Methods MCF-7 cells with constant expression of TGM2 gene(TGM2-LV)were established via the lentiviral vector. The breast cancer cells were divided into five groups,including the NC group, TG2 group and MK2206 group. The MCF-7/adr cells were divided into ADR group and MKadr group. The expres-sion of TG2 ,AKT ,Bcl-2 and P53 was detected by Western blot assay. Cells were treated with epirubicin. MTT assay was performed to assess cell proliferation. The inhibition ratio of cancer cell proliferation was evaluated. TUNEL analysis was performed to identify the apoptosis of the breast cancer cells. Results Lvels of TG2,p-AKT and Bcl-2 in NC group were significantly lower than those in TG2 group,while the expression of P53 in NC group was much higher. In MK2206(or MK/adr )group,p-AKT and Bcl-2 were down-regulated,while P53 was markedly up-regulated compared with TG2(or ADR)group(P<0.05). The results of the MTT assay showed a strong inhibi-tion in cell proliferation rate in MK2206(or MKadr )group. Compared with the NC group,TG2 promoted prolifera-tion of MCF-7 cells in TG2 group. The cell apoptosis rate in MK2206(or MKadr )group was significantly higher than that in TG2(or ADR)group(P<0.05). TG2 significantly inhibit the apoptosis of breast cancer cells ,com-pared to the control group. Conclusion TG2 might promote drug resistance to epirubicin through AKT signal path-way in breast cancer