Objective To investigate proteolipid protein 1 (PLP1) mutations in six pedigrees with Pelizaeus-Merzbacher disease (PMD),and to provide prenatal consulting and prenatal diagnosis.Methods Subjects were six probands with PMD admitted in Department of Pediatrics,Peking University First Hospital from July 2006 to November 2011 and their family members.Genomic DNA sarnples were extracted from peripheral bloods of probands and their family members.Multiplex ligation-dependent probe amplification (MLPA) technique was used to detect PLP1 duplication mutation.Direct DNA sequencing was used to detect point mutation.Genetic diagnosis were based on PLP1 mutation genotype from probands.Prenatal diagnosis of nine fetuses were performed from seven PLP1 mutation female carriers by fetuses' DNA extracted from amniocytes or villus cells.Results PLP1 duplications were found in probands 1-4 (P1-4) whose mothers and the aunt of proband 1 (P1) were PLP1 duplications carriers.The two cases of point mutation,c.96C＞G(p.F32L) and c.623G＞T (p.G208V),were found in proband 5 (P5) and proband 6 (P6).Hcterozygous changes of the same mutations were found in P5' and P6' mothers with normal phenotypes.Seven female PLP1 mutation carriers were pregnant again.Prenatal diagnosis of PLP1 for nine fetuses presented one PLP1 duplication,one point mutation,one PLP1 duplication carrier,and six wildtypes.A segmental crossing over of X chromosome was detected in one male fetus of PLP1 wildtype.Conclusions PLP1 mutation analysis could help to diagnose PMD pedigree and to identify female PLP1 mutation carrier in the family.The following prenatal diagnosis and proper genetic counseling are very important to prevent PMD child from being delivered.

Objective To observe the expressions of oxidized low density lipoprotein ( OxLDL ) receptor CD36 in kidney tissue of diabetic rats and in tubular cells incubated with OxLDL, and to explore the association of CD36 with the tubular injury and renal fibrosis in the process of diabetic nephropathy. Methods Diabetic rat model with hyperlipidemia was established by feeding with high sugar and fat diet and injection of low dose streptozotocin intraperitoneally. The expression of CD36 in kidney tissues was analyzed immunohistochemically. Meanwhile, the tubular sclerosis and fibrosis injury index were estimated and calculated. NRK-52E cells were stimulated with 50 mg/L OxLDL for 5, 10, 24, and 48 h, or 100 and 150 mg/L OxLDLs for 2 and 3 days. The protein expression of CD36 was detected by Western blot. Results The expression of CD36 in the renal tubulointerstitium of diabetic rats was increased comparing to that in control rats, and was localized mainly at tubular region. The renal tubular damage index(STI)ofdiabetesgroupwashigherthanthatincontrolgroup(5.54±1.5vs0.65±0.15,P<0.05). OxLDL stimulated CD36 expression in NRK-52E cells in a dose-and time-dependent manner. Conclusion The expression of CD36 was increased in renal tubular of diabetic rats, in consistent with STI. OxLDL increased CD36 expression in NRK-52E cells. These results suggest that the expression of CD36 is associated with renal tubular damages in experimental rat diabetes.

Objective To investigate the effect of enhanced external counterpulsation (EECP) on plasma lipoprotein phospholipase A2 (LP-PLA2) levels, vascular endothelial diastolic function in patients with unstable angina. Methods One hundred patients with unstable angina treated in our hospital were randomly divided into routine treatment group (control group n-49) and external counterpulsation group (observation group n = 51, routine treatment plus external counterpulsation therapy, 60 min/time, a total of 30 times). All selected subjects were tested for LP-PLA2 levels on the day of enrollment and on the 30 th day after treatment, and color Doppler ultrasonography was used to detect arterial blood flow-mediated vasodilation (FMD) and nitroglycerin-mediated vasodilation (NMD). Results After treatment in the observation group, LP-PLA2 decreased compared with before treatment, the difference was statistically significant (P < 0.05) , but FMD, NMD were higher than those before treatment, which had statistical difference (P < 0.05). In control group treatment afterwards, LP-PLA2, endothelium-dependent vasodilatation and non-endothelium-dependent vasodilatation did not change significantly before treatment (P> 0.05). Observations between groups showed that the increase in FMD and NMD in the observation group was significantly greater than that in the control group. P < 0.01) , plasma LP-PLA2 levels in the observation group also decreased compared with the control group (P < 0.05). Conclusion Enhanced external counterpulsation can reduce the level of LP-PLA2 in patients and improve endothelial diastolic function under the action of blood flow shear stress.

The global incidence rate of cancer continues to rise,and shows an obvious trend of youth.Implementing digital health interventions can improve the accessibility and quality of palliative care for adolescent cancer patients.At present,there is a gradual increase in related research,but foreign research is the main focus,and domestic research is relatively small,which has not yet attracted the attention of medical staff.Starting from the needs of palliative care for adolescent cancer patients,this article reviews the forms of digital health interventions and their applications in health education,symptom assessment,psychological support and grief counseling,and the development of advance care planning.It analyzes existing problems and proposes nursing strategies,aiming to provide references for clinical nursing practice.

Objective To assess the effect of D-JNKI1, an inhibitor of c-Jun N-terminal kinase (JNK), on delayed neuronal death (DND) in a gerbil model of transient global cerebral ischemia, so as to further study the roles of JNK activation in mediating neuronal cell death in brain ischemia. Methods Fifty-five Mongolian gerbils were randomly divided into 11 groups. Animals (n=35) assigned into 7 groups (n=5 per group) were subjected to 5-min occlusion of bilateral common carotid arteries (BCCAO);among the 7 groups, different doses of D-JNKI1 (0.00012, 0.0012, 0.012, 0.12, 1.2 μmol/L in 2 μL PBS,n=5 each) were administered stereotaxically into right lateral ventricles 3 h after reperfusion; the control group (n=5) received 2 μL PBS; and another group (n=5) received 1.2 μmol/L of D-JNKI1 in 0.5 mL PBS intraperitoneally. Sham-operated animals (n=5) only received the exposure of bilateral common carotid arteries without occlusion. Three groups (n=5 in each) were pretreated with D-JNKI1 (0.00012,0.0012 μmol/L in 2 μL PBS) or only 2 μL PBS 30 min before 2-min BCCAO, and subjected to 5-min BCCAO 48 h after the first ischemic insult. All animals were sacrificed 4 d after 5-min BCCAO and prepared for frozen section and Nissl staining. Results The treatment with D-JNKI 3 h after 5-min ischemia was neuroprotective with a maximum effect at a dose of 0.0012 μmol/L. Pretreatment with D-JNKI augmented ischemic tolerance induced by 2-min ischemia. Conclusion D-JNKI1 has a potential neuroprotective effect on DND in CA1 of hippocampus in gerbils with global cerebral ischemia-reperfusion injury.

ObjectiveTo explore the diagnostic value of dual-energy computed tomography （DECT） for left atrial appendage thrombosis/spontaneous echocardiographic contrast （LAAT/SEC）. MethodsA retrospective analysis was done on 64 non-valvular atrial fibrillation patients who planned to undergo radiofrequency ablation between November 2020 and November 2021. All patients underwent DECT and transesophageal echocardiography （TEE）， and then were divided into LAAT/SEC group and non-LAAT/SEC group based on the TEE results. The clinical data and imaging parameters of the two groups were compared and analyzed. Univariate and multivariate logistic regression analyses were performed to determine the independent risk factors for LAAT/SEC， and a prediction model was constructed. ResultsA total of 64 patients with atrial fibrillation were enrolled in this study， including 42 non-LAAT/SEC patients and 22 LAAT/SEC patients. There was no statistically significant difference in gender and body mass index （BMI） between the two groups （P > 0.05）. CHA₂DS₂-VASc score and left atrial diameter were higher in the LAAT/SEC group than in the non-LAAT/SEC group （P = 0.047； P < 0.001）. Significant differences （P < 0.001） were observed in the ratio of Hounsfield unit of LAA and ascending aorta （LAA/AA HU ratio） at the first phase of DECT and quantitative parameters such as Zeff， Rho， λHu， and nIC. Multivariate logistic regression showed that Zeff and Rho were the independent factors for the diagnosis of LAAT/SEC. A Zeff-Rho based model predicting LAAT/SEC was subsequently developed， with Area Under the Curve （AUC） of 0.96 （95% CI： 0.92， 1.00） and the accuracy of 0.92 （95% CI： 0.83， 0.97）. ConclusionsThe two quantitative parameters Zeff and Rho are independent risk factors for the diagnosis of LAAT/SEC. The DECT derived Zeff and Rho may have better diagnostic performance than single parameter and conventional CT in detecting LAAT/SEC.

Humans ; Gastrointestinal Microbiome ; Constipation/therapy* ; Probiotics/therapeutic use* ; Patients