A 44-year-old pregnant woman (G5P3) who had delivered two children with DMD was admitted and underwent prenatal diagnosis at Peking Union Medical College Hospital in 2019. (1) The karyotype of the fetus in 2019 was 47,XXY. The fluorescence in situ hybridization (FISH) result showed a nucish(CSPX×2, CSPY×1)[100] and multiplex ligation-dependent probe amplification (MLPA) suggested sex chromosome abnormality. Based on the above results, the fetus was diagnosed with Klinefelter syndrome. Fetal short tandem repeat (STR) linkage analysis and Sanger sequencing indicated a heterozygous mutation of c.9543delG(p.Trp3181CysfsTer2). (2) Sanger sequencing of the proband found a novel frameshift mutation of c.9543delG(p.Trp3181CysfsTer2 ) in exon 65 of the DMD gene. (3) The male fetus performing prenatal diagnosis in 2008 was found to have the same maternal gene markers as the proband with the same genotype. While the genotype of the fetus in 2009 obtained a different maternal gene marker from the proband and did not detect the same DMD gene mutation. This fetus was delivered at full term and was good during follow-up. (4) The elder brother and cousin of the proband had the same frameshift mutation in exon 65 of the DMD gene as the proband. The mother of the proband was a heterozygous carrier of the mutation.

Objective To assess the value of approximal side angle of carotid atherosclerotic plaques in patients with cerebral infarction by ultrasonography.Methods One hundred and seventy six patients with carotid atherosclerotic plaques were examined with uItrasonography and divided into two groups:cerebral infarction group (n=67)and none cerebral infarction group(n=109).Vessel area and residual lumen area of carotid artery were measured in axial view using linear probe.Area stenosis rate was calculated.The approximal side angle and thickness of plaque were measured respectively.The results of two groups were compared.Results The approximal side angle of plaque of cerebral group was significantly higher than that of none cerebral infarction groups(P<0.05).The sensitivity and specificity for approximal side angle of plaque(cutoff value:13.0°)were 79.1%,71.6%,respectively.There were no significant difference of area stenosis rate and plaque thickness between two groups(P>0.05).Conclusions The approximal side angle of plaque can be regarded as a novel index to assess the stability of plaque.

AIM:To study the effects of methylene blue (MB) on myocardial ischemia/reperfusion (I/R)-induced mitochondrial injury in isolated rat hearts.METHODS:Spragure-Dawley (SD) rats were divided into 3 groups randomly (n=6): control group, I/R model group and MB treatment group (IR+MB group).The isolated rat hearts were prepared and set up to Langendorff perfusion.The rats in I/R+MB group received MB (2 mg/kg) by intraperitoneal injection 2 h before operation.The hearts in control group were perfused with K-H solution for 110 min consecutively.The hearts in I/R group and I/R+MB group were in equilibrium for 20 min, following by 45 min of global ischemia, and then reperfused for 60 min.The heart rate (HR), left ventricular developed pressure (LVDP), left ventricular pressure maximum change rate (±dp/dtmax) and left ventricular end-diastolic pressure (LVEDP) were recorded.The perfusate was collected to determine the activity of creatine kinase-MB (CK-MB) and lactate dehydrogenase (LDH).The contents of reactive oxygen species (ROS), malondialdehyde (MDA) and adenosine triphosphate (ATP), and the activity of superoxide dismutase (SOD) in the myocardial tissues were all determined.Histopathological examination of left ventricle was performed.The mitochondria from the heart tissues was isolated and the mitochondrial swelling and mitochondrial membrane potential (MMP) were analyzed.RESULTS:Compared with control group, the hearts in I/R group showed poorer function, higher CK-MB and LDH levels in the perfusate, increased ROS and MDA contents, higher SOD activity and less ATP content in the heart tissues (P<0.05).Furthermore, the mitochondrial swelling level increased and MMP reduced in I/R group (P<0.05).Compared to I/R group, MB improved heart function and reduced the release of CK-MB and LDH (P<0.05).MB also decreased ROS and MDA contents, and increased the activity of SOD and the content of ATP (P<0.05).In addition, MB alleviated mitochondrial swelling and restored the reduced MMP (P<0.05).CONCLUSION: MB protects the isolated rat hearts from I/R-induced injury by attenuating the damage of mitochondria.

AIM: To investigate the effects of caveolin-1 (Cav-1) scaffolding domain peptide, cavtratin, on lipopolysaccharide (LPS)-induced mouse acute lung injury and heme oxygenase-1 (HO-1) activity.METHODS: Adult male BALB/c mice were randomly divided into 6 groups (n=8 to 10): control, Antennapedia internalization sequence (AP), LPS, LPS+hemin, LPS+ hemin+cavtratin and LPS+hemin+cavtratin+zinc protoporphyrin IX (ZnPP) groups.After LPS administration for 24 h, the lung pathological changes, the wet/dry weight (W/D) ratio of lung tissues, total cell number in bronchoalveolar lavage fluid and serum lactate dehydrogenase activity were measured.The co-localization of HO-1 and Cav-1 was displayed by immunofluorescence, and the HO-1 activity were detected.The mRNA expression of pro-inflammatory cytokines IL-1β, IL-6, TNF-α, MCP-1 and iNOS was detected by real-time PCR.RESULTS: The mice in LPS+hemin+cavtratin group had the decreased interaction between HO-1 and Cav-1, and the increased HO-1 activity compare with LPS group (P<0.05).Compared with LPS group, the pulmonary damage was attenuated in LPS+hemin+cavtratin group, and the injury indexes, including W/D ratio, total cell number in bronchoalveolar lavage fluid and lactate dehydrogenase activity in the serum, and the mRNA expression of inflammatory cytokines all decreased (P<0.05).HO-1 activity inhibitor ZnPP abolished the above protective effect of cavtratin on the lung tissues with LPS-induced acute lung injury.CONCLUSION: Cavtratin has beneficial effects on the lung with LPS-induced acute injury by restoring the HO-1 activity.

Objective To assess the relationship between the enhanced intensity of carotid plaque and risk of cerebral infarction using contrast-enhanced ultrasonography(CEUS). Methods Eighty one patients with cerebral infarction and 95 patients without cerebral infarction were enrolled in this study. All the patients were performed using CEUS. The characteristics of plaque enhancement was categorized: grade Ⅰ , non-enhancement;grade Ⅱ , the arterial wall vasa vasorum enhancement; grade Ⅲ. the arterial wall vasa vasorum and plaque shoulder enhancement; grade Ⅳ , extensive and internal plaque enhancement. The data between the two groups was compared and analysed. Results Plaque enhancement presented with grade Ⅰ in 7 cases of 81 patients and 26 cases of 95 controls,grade Ⅱ in 14 and 37,grade Ⅲ in 26 and 17,grade Ⅳ in 34 and 15. The percentage of stroke in grade Ⅰ was 21.2% (7/33),grade Ⅱ was 27.5%(14/51), grade Ⅲ was 60.5% (26/43) and gradeⅣ　was 69.4% (34/49). The percentage of stroke in grade Ⅲ was significantly higher than that in grade Ⅰ and Ⅱ ( P = 0. 001, P = 0. 001 ), and there was no significant difference between grade Ⅲ and Ⅳ ( P = 0.370). The sensitivity and specificity for grade of plaque enhancement (AUC = 0. 721, cutoff value > grade Ⅱ ) were 74. 1 % and 66. 3% respectively. Conclusions The grade of enhancement of carotid plaques in CEUS is a valid indicator to anticipate cerebral infarction. The higher the grade of enhancement of carotid plaques,the higher the risk of cerebral infarction.

Standards for Prescription Review in Medical Institutions puts forward higher requirements for the pharmacists' ability to review prescriptions, and the dispensing pharmacist should review the legality, standardization, and suitability of the prescription. Centralized training helps to improve the pharmaceutical care capacity and promote the rational use of drugs in hospitals. The centralized training course system designed by our hospital includes four modules: laws and regulations, prescription suitability review for drugs commonly used in each department, prescription suitability review for drugs used in the special population, and prescription suitability review for specialty drugs. The training system has the characteristics of homogeneity and standardization. A combination of theoretical courses and practical exercises, as well as the introduction of problem-based learning and case-based learning, holds promise for application in the training of dispensing pharmacists.

Objective:To observe the efficacy and safety of roxadustat in the treatment of renal anemia in calciphylaxis dialysis patients who had poor response to recombinant human erythropoietin (rHuEPO).Methods:This study was a prospective cohort study. The dialysis patients who were diagnosed with calciphylaxis and had previous regular use of rHuEPO≥3 months with hemoglobin (Hb) levels<110 g/L in the Department of Nephrology of Zhong Da Hospital affiliated to Southeast University from January 1, 2019 to March 28, 2021 were recruited. The effect of oral roxadustat in calciphylaxis dialysis patients with renal anemia was analyzed by self-comparison method.Results:There were totally 18 calciphylaxis dialysis patients with renal anemia enrolled in the study and the age was (49.7±16.2) years old, including 11 males and 7 females, and 14 cases on hemodialysis and 4 cases on peritoneal dialysis. The high-sensitivity C-reactive protein level was 27.3(15.6, 48.5) mg/L(reference value 0-3 mg/L) at baseline. The baseline Hb level was (85.4±11.6) g/L, and after 3 months of oral roxadustat, the Hb level was (105.8±15.2) g/L ( t=-9.282, P<0.001). The Hb compliance rate was 44.4%(8/18). Ferritin decreased significantly at 3 months compared with the baseline level [208.0(59.0, 306.3) μg/L vs 229.0(127.3, 385.2) μg/L, Z=-3.637, P<0.001]. The total iron binding capacity level increased significantly compared with the baseline level [127.0(65.0, 211.5) μmol/L vs 105.5(43.8, 153.7) μmol/L, Z=-2.156, P=0.031]. Transferrin saturation level at 3 months was lower than that at baseline, but there was no significant difference [20.2%(14.2%, 27.7%) vs 20.5%(18.7%, 34.9%), Z=-1.546, P=0.122]. No adverse reactions occurred during the observation period. Conclusion:The application of roxadustat can effectively correct Hb level and improve iron metabolism with high safety in calciphylaxis dialysis patients with renal anemia under inflammatory status.

Objective:To investigate the mediating effect of inflammatory factors in the association between low density lipoprotein-cholesterol(LDL-C) and thyroid associated ophthalmopathy(TAO).Methods:This study was a prospective study, which icluded a total of 86 patients with Graves′ disease who attended the Department of Endocrinology of the First Affiliated Hospital of Zhengzhou University from January 2021 to June 2022. Among them, there were 56 patients with Graves′ disease accompanied by TAO, including 30 cases in the inactive group and 26 in the active group. Additionally, there were 30 cases having Graves′ disease alone. The relationship between LDL-C, inflammatory factors, and the onset and activity of TAO were analyzed using binary logistic regression. Mediation analysis was used to explore the mediating effect of inflammatory factors in the association between LDL-C and TAO onset and activity.Results:Interleukin(IL) -6 was a potential mediator that linking the association between LDL-C and TAO onset: LDL-C had a direct effect on TAO(Total effect value=0.274, 95% CI 0.161-0.386), while IL-6(mediated effect=0.067, 95% CI 0.011-0.123) and IL-17(mediated effect=0.042, 95% CI 0.007-0.077) partially mediated the effect of LDL-C on TAO, accounting for 24.45% and 15.33% of the total effect, respectively. IL-6 was a potential mediator of the association between LDL-C and TAO activity: LDL-C had a direct effect on TAO activity(Total effect value=0.320, 95% CI 0.204-0.435), and IL-6(mediated effect=0.103, 95% CI 0.021-0.185) partially mediated the effect of LDL-C on TAO activity, with a mediation effect of 32.19%. Conclusion:IL-6 plays a partiall mediating role in the association of LDL-C with TAO onset and activity.

Objective:To determine the predictive role of combined assessment of vasoactive-inotropic score(VIS) and lactate for the prognosis of patients with postcardiotomy cardiogenic shock(PCS) requiring venoarterial extracorporeal membrane oxygenation(VA-ECMO).Methods:222 adults with PCS requiring VA-ECMO were retrospectively analyzed and divided into four groups according to the cut-off values of VIS and lactate(Lac) at 24 h after ECMO initiation: group 1(59 cases): VIS≤14.5, Lac≤2.45 mmol/L; group 2(17 cases): VIS>14.5, Lac≤2.45 mmol/L; group 3(90 cases): VIS≤14.5, Lac>2.45 mmol/L; group 4(56 cases): VIS>14.5, Lac>2.45 mmol/L. The incidence of in-hospital mortality and other clinical outcomes were analyzed. The associations of VIS and lactate and in-hospital mortality were analyzed using Cox proportional hazards analysis.Results:The in-hospital mortality was 18.6%, 58.8%, 63.3% and 71.4% in the four groups( P<0.001), while the rate of successful weaning off ECMO was 88.1%, 88.2%, 58.9% and 33.9% respectively( P<0.001). The group 1 significantly differed from other three groups with regards to in-hospital mortality and ECMO weaning rate( P<0.05). The groups 1 also showed significantly improved cumulative 60-day survival compared with other three groups( log- rank test, P<0.05). Cox proportional hazards analysis showed age( HR=1.03, 95% CI: 1.01-1.05, P=0.001), female( HR=1.87, 95% CI: 1.27-2.76, P=0.002), VIS at 24 h after ECMO initiation( HR=1.02, 95% CI: 1.00-1.05, P=0.020), and lactate at 24h after ECMO initiation( HR=1.12, 95% CI: 1.08-1.16, P<0.001) were independently predictive of in-hospital mortality. Conclusion:Patients with VIS≤14.5 and Lac≤2.45 within 24 h after ECMO initiation had better in-hospital and 60-day outcomes, suggesting that combined assessment of VIS and lactate may be instructive for determining the prognosis of PCS patients requiring VA-ECMO support.

【Objective】 To conduct the laboratory quality assessment between 12 blood stations in Hebei province, analyze the results and explore the accuracy and comparability of testing, so as to improve the level of testing ability and quality management. 【Methods】 With reference to the external quality assessment rules of National Center for Clinical Laboratories and combined with the instructions of quality assessment samples, daily testing process of the laboratories were assessed. The quality indicators include blood cell count (WBC, RBC, Hb, HCT, MCV, MCH, MCHC and PLT), biochemical items (TP) and coagulation parameters (FIB and FⅧ). 【Results】 There are still problems in laboratories in terms of personnel operation, instrument maintenance and the impact of different reagent batches, especially in biochemical items and coagulation parameters. The pass rate of biochemical items was the lowest, only 72.75%, and that of blood cell count was the highest, reaching 98.75%. 【Conclusion】 With the progress of the project, the quality monitoring level of daily blood sampling tests in the quality control laboratory of each blood station has been improved. However, it is still necessary for each laboratory to improve the testing ability and quality management to a higher level in Hebei.