Objective To investigate the impacts of soluble dietary fiber (SDF) on gastric emptying,postprandial blood glucose and insulin in patients with type 2 diabetes mellitus (T2DM).Methods Totally 30 T2DM patients and 10 healthy subjects (control group) were randomized to receive SDF-free liquid (500 ml,2092 kJ) and isocalorie SDF liquid (at β-glucan 7.5 g,500 ml,2092 kJ) on two separate days based on a Cross-over order.Gastric emptying was monitored by ultrasomography at intervals of 30 min for 2 hours.Fasting and postprandial blood samples were collected at intervals of 30-60 min for 180 min to determine blood glucose and insulin.Results The proximal gastric emptying was delayed in SDF both in T2DM group (P =0.001)and control group (P =0.037).SDF significantly decreased the area under the curve of postprandial glucose (P =0.001) and insulin (P =0.001) in T2DM group.Postprandial glucose (r=-0.547,P =0.047) and insulin (r =-0.444,P =0.030) had negative correlation with distal emptying of SDF in T2DM patients.The distal gastric emptying was delayed significantly in T2DM patients with HbAlc≥6.5％ (n =13,P =0.021)by SDF.Conclusions SDF can improve the postprandial glucose level,which may be related with the delayed gastric emptying.T2DM patients with higher average blood glucose has remarkably delayed gastric emptying after the administration of SDF.

Objective:To assess the clinical significance of next-generation sequencing (NGS)-based IGH/ IGK gene rearrangement analysis versus flow cytometry (FCM) in diagnosing minimal residual disease (MRD) of children with acute B-cell lymphoblastic leukemia (B-ALL). Methods:Clinical data, NGS-MRD and FCM-MRD findings at the initial diagnosis and after induction chemotherapy of 85 children diagnosed as B-ALL in Children′s Hospital of Nanjing Medical University from July 2019 to July 2021, were retrospectively analyzed.The sensitivity of the two methods, and the positive rate were compared by χ2 test or Fisher′ s test.The correlation was identified by Spearman correlation analysis. Results:Dominant clone sequences were detected in all children at the initial diagnosis by NGS, while selection markers were identified by FCM in 75(88.2%) patients.Positive MRD rate detected by NGS-MRD was significantly higher than that of FCM-MRD at the same time point after induction chemotherapy[31.8%(27/85) vs.9.4%(8/85), P<0.001]. Compared with those of FCM-MRD, NGS-MRD had good sensitivity (100.0%), specificity (75.3%) and negative predictive value (100.0%), and the positive predictive value was 29.6%.MRD results detected by NGS were consistent with that of FCM ( r=0.569, P<0.001). By July 27, 2022, 2 patients with NGS-MRD (+ )FCM-MRD (-)relapsed during maintenance chemotherapy. Conclusions:NGS is highly consistent with FCM in the detection of MRD in children with B-ALL, which is more sensitive.The combination of NGS-MRD and FCM-MRD benefits more in monitoring MRD in children with B-ALL after induction chemotherapy.

Objective:To analyze the clinical and genetical characteristics of children with Gaucher disease and to explore the relationship between genotype and phenotype.Methods:In this retrospective study, the clinical data of 14 children with Gaucher disease diagnosed in Children′s Hospital of Nanjing Medical University from August 2016 to October 2021 were analyzed. Their general conditions, clinical manifestations, laboratory tests and gene variations were collected, followed by the analysis of the clinical phenotypes and genotypes.Results:Among 14 children diagnosed with Gaucher disease, 9 were males and 5 were females, with the age of diagnosis ranging from 0.7 to 15.8 years. There were 10 patients with type 1 Gaucher disease, 2 patients with type 2, and 2 patients with type 3. The most common clinical manifestations were splenomegaly, thrombocytopenia (14 cases), hepatomegaly (8 cases) and anemia (8 cases). There were 6 patients with growth retardation, and 5 patients lag in height compared with their peers. Bone abnormalities were revealed by magnetic resonance imaging in 7 type 1 Gaucher disease patients, but only 1 patient experienced bone pain. Patients with type 2 and type 3 Gaucher disease also presented with convulsions, nystagmus and hearing loss. Gaucher cells were found in bone marrow smears in 12 patients. The glucocerebrosidase gene variations identified in 13 patients were heterozygous and in 1 type 1 patient was homozygous of L483P. L483P variation accounted for 33%(10/30) of the variation alleles, followed by V414L, D448H and R159W. The variation alleles were L483P and L422R, F252I and L483P in 2 children with severe neurological manifestations of Gaucher disease. A novel variation c.22A>G was detected.Conclusions:Splenomegaly and thrombocytopenia are the main clinical presentations of Gaucher disease in children and bone lesions revealed by radiologic imaging appear prior to the occurrence of bone diseases, type 2 and type 3 Gaucher disease also present growth retardation and neurological manifestation. The most frequent variant allele is L483P, which are detected in all 3 subtypes of Gaucher disease. The L422R, F252I gene variants correlated with the neuronopathic phenotype.