OBJECTIVETo correlate the clinical features of patients with acute myeloid leukemia (AML) with mutations of FLT3-ITD, NPM1, CEBPA, c-KIT, DNMT3A and ND4 genes as well as chromosomal aberrations.

METHODSSomatic mutations of aforementioned genes in 412 newly diagnosed AML patients were detected with PCR and direct sequencing. All patients were also subjected to R-banding chromosomal analysis. The results were correlated with the clinical features and prognosis of the patients.

RESULTSThe mutation rates of FLT3-ITD, NPM1, CEBPA, c-KIT, DNMT3A and ND4 were 9.0% (26/289), 19.1% (50/262), 18.9% (34/180), 3.4% (7/208), 6.6% (9/137) and 6.9% (4/58), respectively. Patients with poor prognosis based on genetic mutations had lower blood platelet count than those with intermediate and good prognosis (P=0.001 and P=0.001, respectively). None of the three groups attained median overall survival (OS) (P> 0.05). The complete remission (CR) was similar among the three groups (P> 0.05). For patients with different prognosis based on cytogenetic findings, white blood cell count in those with intermediate prognosis was higher than those with good and poor prognosis (P< 0.001 and P=0.004, respectively), while the blood platelet count of the intermediate group was higher than that of the group with good prognosis (P=0.018). No significant difference was found among the three groups in terms of hemoglobin level (P> 0.05). The group with poor prognosis has attained shorter OS compared with those with good and intermediate prognosis (P< 0.001 and P=0.003, respectively). However, the CR rate of the group with good prognosis was higher than that of the intermediate group (P=0.001). For the group with intermediate prognosis, presence of genetic mutations did not correlate with the clinic characteristics such as white blood cell count, blood platelet count, hemoglobin level, OS and CR rate (P> 0.05 for all comparisons).

CONCLUSIONGenetic mutations combined with cytogenetic analysis can facilitate the prognosis and personalized treatment for patients with AML.

Adolescent ; Adult ; Aged ; Aged, 80 and over ; Child ; Child, Preschool ; Female ; Humans ; Infant ; Leukemia, Myeloid, Acute ; genetics ; mortality ; Male ; Middle Aged ; Mutation ; Prognosis ; Young Adult

Objective TosummarizeMRIfeaturesofadultreversiblespleniallesionsyndrome(RESLES)andevaluateitsdiagnosticvalue. Methods ClinicalandMRIdataof15patientswithRESLESwereanalyzedretrospectively.Primarydiseasesandcausesincluded:encephalitis disease,cerebrovasculardiseases,metabolicandelectrolytedisorders.Theclinicalsymptomswereheadache,dizziness,changeofconsciousness, epilepticseizuresandothernonspecificneurologicsymptoms.Thecranialimagingexaminationwasperformedat3.0T/1.5TsuperconductingMR, includingT1WI,T2WI,T2FLAIRandDWI,inwhich7casesunderwentMRIenhancedscanand5casesunderwentMRAexamination.Results Among15patients,MRIfindingsofallpatientswerecharacterizedbythecharacteristic"boomerangsign"ortheovoidabnormalitysignalinthe corporiscallosisplenium,whichwaspresentedascytotoxicedema.Besides,4ofthem werecombinedwithposteriorreversibleencephalopathy syndrome(PRES),whichwascharacterizedbyvasogenicedemainthebilateraloccipital,temporal,parietallobeandcerebellarhemisphere.The clinicalsymptomsofallpatientsimprovedafterreasonabletreatment.Conclusion MRIcharacteristicfindingofadultreversiblesple-niallesionsyndromeisthecytotoxicedemaofthecorpuscallosum,whichcanbeshowedas"boomerangsign"orovalform.Imagingfindingsand clinicalsymptomsarereversible.Thecorrectunderstandingofthisdiseaseisofgreatsignificancetoclinicalrationaldiagnosisandtreatment.

Amyloid beta (Aβ) plaques are one of the hallmarks of Alzheimer's disease (AD). However, currently available anti-amyloid therapies fail to show effectiveness in the treatment of AD in humans. It has been found that there are different types of Aβ plaque (diffuse and focal types) in the postmortem human brain. In this study, we aimed to investigate the correlations among different types of Aβ plaque and AD-related neuropathological and cognitive changes based on a postmortem human brain bank in China. The results indicated that focal plaques, but not diffuse plaques, significantly increased with age in the human hippocampus. We also found that the number of focal plaques was positively correlated with the severity of AD-related neuropathological changes (measured by the "ABC" scoring system) and cognitive decline (measured by the Everyday Cognitive Insider Questionnaire). Furthermore, most of the focal plaques were co-localized with neuritic plaques (identified by Bielschowsky silver staining) and accompanied by microglial and other inflammatory cells. Our findings suggest the potential of using focal-type but not general Aβ plaques as biomarkers for the neuropathological evaluation of AD.
Alzheimer Disease/pathology* ; Amyloid beta-Peptides/metabolism* ; Amyloid beta-Protein Precursor ; Brain/pathology* ; Cognitive Dysfunction/pathology* ; Hippocampus/metabolism* ; Humans ; Neuroinflammatory Diseases ; Plaque, Amyloid/pathology*