ObjectiveTo explore clinical,histopathological and genetic features in a case of fatal familial insomnia (FFI) and related literatures were reviewed. Methods The clinical features in one patient with FFI were analyzed,and the dead patient was examined at autopsy and histopathological studies were performed on the brain tissues; and the blood samples from the patient and some of her familial members were collected for the sequencing of prion protein gene (PRNP). Results The main clinical features included intractable insomnia,psychiatric symptoms and abnormal night sleep behavior,unsteady gait,difficulty swallowing,sudden death,and positive family history. The pathological studies showed multiple neuronal loss and gliosis of brain tissues from the proband,predominated in thalamus; and analysis of PRNP revealed gene D178N mutation,and linkage with 129 methionine (Met) allele in the proband and a relative.ConclusionsFFI patients may manifest as sudden death,and may have prominent psychiatric symptoms; the corresponding gene mutation could occur in the asymptomatic carriers; the data of autopsy and brain tissue pathology is helpful for further understanding of this disease.

Purpose To investigate the correlation between the brain white matter changes of MR diffusion tensor imaging (DTI) and cognitive function in the patients with mild cognitive impairment. Materials and Methods The patients (40 cases) were classified into two groups:group A (20 patients with ischemic foci in the deep white matter ) and group B (20 patients without ischemic foci in the deep white matter), and 20 normal controls was enrolled. Conventional MRI, DTI, mini-mental state examination (MMSE) and montreal cognitive assessment (MoCA) were applied, then fractional anisotropy (FA) value and apparent diffusion coefficient (ADC) value were compared among three groups. The scores of MoCA was analyzed between the patient groups. Results The decreased FA value, increased ADC value and decreased MoCA scores was demonstrate in group A, and showed significant difference compared with group B (t=-4.229,-3.251,-7.533,-2.702,-2.660;P<0.05). The increased ADC value and decreased FA value in the frontal and hippocampus region were detected in group B compared with normal controls (t=-7.790,-2.785,-4.415,-5.164;P<0.05). Conclusion The early and special structural changes can be detected using DTI compared with conventional MRI. The severe white matter lesions can be demonstrated in the patients with ischemic foci in the deep white matter, who is prone to dementia.

Objective To evaluate the value of perfusion imaging mismatch and low perfusion ratio(HIR)based on CT perfusion imaging in predicting acute intracranial large vessel occlusion(LVO)associated with intracranial atherosclerotic stenosis(ICAS).Methods A total of 82 pa-tients with acute intracranial LVO who underwent emergency thrombectomy in our hospital from February 2019 to December 2020 were enrolled in this study.According to the etiology,they were divided into ICAS-related LVO group(ICAS-LVO,65 cases)and cardiogenic embolism group(17 cases).ROC curve was plotted to analyze the predictive value of CT perfusion imaging parame-ters.Results Compared with the cardiogenic embolism group,the ICAS-LVO group had signifi-cantly larger male ratio,higher BMI and TG level,more severe progression of disease,longer time from onset to surgery,larger proportion of ischemic penumbra and higher mismatch ratio,and ob-viously less ratio of atrial fibrillation,lower BNP and HDL levels,smaller infarct volume,and lower HIR(P＜0.05,P＜0.01).ROC curve analysis showed that HIR and mismatch ratio had good predictive value for the etiology of ICAS-LVO.The optimal cut-off value of HIR was 0.26,with an AUC value of 0.74,a specificity of 0.88,and a sensitivity of 0.54.The optimal cutoff for the mismatch ratio was 3.84,with an AUC value of 0.84,a specificity of 0.75,and a sensitivity of 0.90.Generalized linear model revealed that HIR and cerebral blood volume index had no signifi-cant difference in prognostic performance(P=0.175).Conclusion HIR and mismatch ratio are helpful to identify the pathogenesis earlier and formulate surgical strategies more accurately,thereby reducing iatrogenic injury to a greater extent,increasing the effective reperfusion rate,re-ducing the disability and mortality,and improving the prognosis of clinical outcomes.

A series of novel pyrano[2, 3-d]trizaole compounds were synthesized and their α-glucosidase inhibitory activities were evaluated by in vitro enzyme assay. The experimental data demonstrated that compound 10f showed up to 10-fold higher inhibition (IC74.0 ± 1.3 μmol·L) than acarbose. The molecular docking revealed that compound 10f could bind to α-glucosidase via the hydrophobic, π-π stacking, and hydrogen bonding interactions. The results may benefit further structural modifications to find new and potent α-glucosidase inhibitors.

Adolescent ; Adult ; Aged ; Female ; Fusion Proteins, bcr-abl ; genetics ; Humans ; Leukemia, Myelogenous, Chronic, BCR-ABL Positive ; genetics ; therapy ; Male ; Middle Aged ; Mutation ; Pilot Projects ; Precursor Cell Lymphoblastic Leukemia-Lymphoma ; genetics ; therapy ; Retrospective Studies

OBJECTIVETo compare the curative effect of imatinib and allogeneic hematopoietic stem cell transplant (allo-HSCT) in the treatment of chronic myeloid leukemia (CML).

METHODS292 CML patients received imatinib, and 141 patients underwent allo-HSCT. The clinical data of these patients were retrospectively analyzed to compare event- free survival (EFS) and overall survival (OS) between these two groups of patients in chronic and advanced (including accelerate and blast) phases.

RESULTS(1) EFS, OS, expected 5- year EFS and OS of imatinib group (278 patients in chronic phase) were all statistically higher than of allo-HSCT group (120 patients in chronic phase) (88.5% vs 70.0%, 93.2% vs 80.0%, 84.0% vs 75.0% and 92.0% vs 79.0%, respectively, all P values < 0.01). (2) EFS and OS of imatinib group (14 patients in accelerate and blast phases) were 42.9% and 42.9%, respectively. Meanwhile EFS and OS of allo-HSCT group (21 patients in accelerate and blast phases) were 47.6% and 57.1%, respectively. There were no significant differences in terms of EFS and OS between the two groups (P values>0.05).

CONCLUSIONEFS and OS of imatinib group were significantly higher than of allo-HSCT group for CML patients of in chronic phase. Imatinib and allo-HSCT had the similar efficacy for CML patients in accelerate and blast phases.

Adolescent ; Adult ; Aged ; Benzamides ; therapeutic use ; Child ; Child, Preschool ; Disease-Free Survival ; Female ; Hematopoietic Stem Cell Transplantation ; Humans ; Imatinib Mesylate ; Leukemia, Myelogenous, Chronic, BCR-ABL Positive ; therapy ; Male ; Middle Aged ; Piperazines ; therapeutic use ; Protein Kinase Inhibitors ; therapeutic use ; Pyrimidines ; therapeutic use ; Retrospective Studies ; Transplantation, Homologous ; Young Adult