A union operation method of chromatograph mass spectrometer was applied in analyses of volatile oil compositions in flowers and leaves of Radix Ginseng. The preliminary identification indicated thai there were 15 and 32 kinds of chemical compositions in flowers and leaves of Radix Ginseng, respectively. Meanwhile, their relative content has also been determined.

Objective To investigate and determine the apparent diffusion coefficient (ADC) values in different anatomical regions of normal pancreas.Methods A total of 383 volunteers with normal pancreas were included in this study.Single-shot echo planar imaging diffusion weighted imaging (SSEP-DWI; b value =0,500 s/mm2) was employed to determine the ADCs in the head,neck,body and tail parts of the pancreas.Statistical analysis was performed by using Kruskal-Wallis and Wilcoxon signed rank tests.Results The ADCs in the head,neck,body and tail parts of the pancreas was (1.52 ± 0.29) × 10-3,( 1.64 ± 0.34) ×10-3,(1.67±0.35) × 10-3,(1.58 ±0.31) × 10-3 mm2/s,the Kruskal-Wallis test results showed a significant difference of mean ADCs among the different anatomical regions (chi square =44.8748,P ＜0.0001 ).Wilcoxon signed rank test results showed the mean ADCs differed remarkably between the head and neck ( P ＜ 0.0001 ),head and body ( P ＜ 0.0001 ),head and tail ( P =0.0008 ),neck and tail (P =0.0062 ),body and tail (P ＜0.0001),respectively.The mean ADCs between the neck and body was not significantly different (P =0.1181 ).Conclusions The mean ADC values of normal pancreas vary significantly within different anatomical regions,which can serve as a guide for DW1 and ADC in clinical application and research of pancreatic diseases.

Objective:To analyze the clinical and imaging characteristics of acute necrotic encephalopathy (ANE) in a child with human herpesvirus-6 (HHV-6) infection.Methods:Retrospective analysis was performed on the clinical data and imaging features of a case of HHV-6 related ANE from Children′s Hospital Affiliated to Zhengzhou University in March 2019.Results:The one year and seven month-old child had acute encephalopathy, recurrent convulsions, consciousness disorders, elevated serum transaminase. The number of cerebrospinal fluid (CSF) cells was normal and the protein increased. High throughput gene testing of CSF showed HHV-6. Cranial magnetic resonance imaging showed multiple symmetry damage in the bilateral thalamus, brainstem, and cerebellum. The symptoms improved after the treatment of glucocorticoids, intravenous immunoglobulin, and plasmapheresis.Conclusions:ANE is a rare severe encephalopathy, the characteristic imaging change of which is symmetry multifocal cerebral damage, especially in the bilateral thalamus. ANE should be considered for patients with frequent convulsions and disturbance of consciousness after virus infection.

Objective To explore the value of Multiple b value DWI ( MbDWI ) in the short-term efficacy evaluation of cyberknife radiotherapy for locally advanced pancreatic cancer ( LAPC ) .Methods A total of 36 patients underwent both conventional sequence and respiratory triggered MbDWI ( b=0, 25, 50, 75, 100, 150, 200, 400, 600, 800, 1 000 s/mm2 ) before cyberknife radiotherapy, 1month and 3 months after the radiotherapy, respectively.ADCtot, f, Dfast and Dslow were calculated using single and double exponential model and the changes before and after radiotherapy were observed.Results Before radiotherapy, 1 month and 3 months after radiotherapy, the ADCtot values of solid lesions were (1.56 ±0.29) ×10-3 mm2/s, (1.75 ±0.31) ×10 -3 mm2/s and (18.6 ± 0.46) ×10 -3 mm2/s;the values of Dslow were (1.10 ±0.73) × 10 -3 mm2/s, ( 1.19 ±0.97 ) ×10 -3 mm2/s and ( 1.49 ±04.6 ) ×10 -3 mm2 s/; the values of Dfast were (83 .33 ±62 .57) ×10 -3 mm2/s,(124.57 ±123.10) ×10 -3 mm2/s and (108.07 ±96 .67) ×10 -3 mm2 /s; f values were (26.81 ±23.74)%,(23.61 ±22.75)% and (21.34 ±15.36)%, respectively.ADCtot values 1 month and 3 months after treatment were significantly higher than those before treatment and Dslow 3 months post-treatment was higher than that before treatment, and the differences were statistically significant ( both P<0.05) and no other differences between two groups were significant.There were no statistical differences on Dfast and f before and after radiotherapy.Conc lusions ADCtot and Dslow both showed a significant growth trend after cyberknife radiotherapy.The advanced degree of parenchymal cystic in the targeted lesion could reflect the short-term efficacy of cyberknife treatment.

OBJECTIVETo detect disease-causing mutations in a patient with hereditary elliptocytosis.

METHODSSodium dodecyl sulfate polyacrylamide gel electropheresis (SDS-PAGE) was used to identify the type of erythrocyte membrane protein defect. Potential mutations of the exons and adjacent introns of relevant genes were analyzed by Sanger sequencing.

RESULTSSDS-PAGE has failed to detect any difference between the patient and healthy controls. However, Sanger sequencing has detected three mutations in the SPTA1 gene in the patient, which included c.5077A>C (p.Lys1693Gln) missense mutation in exon 36, c.5572C>G (p.Leu1858Val) missense mutation in exon 40, and a IVS45nt-12C>T in intron 45. The father and grandmother of the patient were both heterozygous for c.5077A>C mutation, while her mother was heterozygous for c.5572C>G and IVS45nt-12C>T mutations.

CONCLUSIONThe hereditary elliptocytosis in the patient may be attributed to the synergistic action of c.5077A>C, c.5572C>G and IVS45nt-12C>T mutations of the SPTA1 gene.

Objective: To investigate the characteristics of histogram analysis and differences of apparent diffusion coefficient (ADC) for normal pancreas with different diffusion gradients of diffusion weighted imaging (DWI) at 3.0T. Methods: Three unidirectional diffusion gradients (X, Y or Z direction) and three orthogonal diffusion gradient DWI data of 21 volunteers with normal pancreas were retrospectively analyzed. The histogram parameters of mean ADC, percentile, skewness, peak and the like were measured based on home-made DWI post-processing software, and the differences on histogram parameters obtained from 4 different diffusion gradients were compared by using Kruskal Wallis test. Results: There was no significant difference on the mean ADC, skewness, percentile and the like for normal pancreas among 3 unidirectional diffusion gradients and tri-orthogonal diffusion gradient DWIs, but there was significant difference on the mean kurtosis value (X: 3.16±1.44, Y: 4.72±2.26, Z: 4.47±2.1, tri-orthogonal: 3.69±1.82; χ² =-9.84, P=0.02). Further analyses results showed that the ADC kurtosis of normal pancreas obtained from X-directional diffusion gradient DWI was significantly smaller than that of the direction of Y or Z, and the difference was statistically significant (P<0.05). Conclusions The ADC kurtosis of normal pancreas is related to the direction of diffusion gradient in DWI, and the ADC kurtosis of normal pancreas obtained by X-direction diffusion gradient is the smallest.

Objective To explore the feasibility of a high-resolution melting(HRM)method for rapid screening of SLC4A1 mutation.Methods Two hereditary spherocytosis(HS)with a c.166A >G heterozygous mutation of SLC4A1 confirmed by DNA sequencing and thirty healthy controls were selected for the study.The HRM primer was designed by Primer Premier 6.0 software.All of these samples were detected by LightCycler?480 and analyzed by HRM.Results The HRM analysis was able to detect the c.166A>G heterozygous mutation of SLC4A1 effectively, and the specificity and sensitivity were both 100%.Conclusions The HRM analysis was appropriate for the detection of c.166A>G in SLC4A1.It was an efficient,accurate and cost-effective molecular diagnosis method.

OBJECTIVE: To explore the genetic etiology for a pedigree affected with progressive familial intrahepatic cholestasis (PFIC). METHODS: Target sequence capture and next generation sequencing (NGS) were applied for the proband. PCR and Sanger sequencing were used to verify the suspected mutation in his sister with similar symptoms and his parents. RESULTS: The proband and his sister manifested after birth with symptoms including jaundice, pruritus and developmental retardation. NGS has identified compound heterozygous mutations of ABCB11 gene, which encodes bile salt export pump protein (BSEP), namely c.2494C>T (p.Arg832Cys) and c.3223C>T (p.Gln1075*), in the proband, which were inherited from his father and mother respectively. His sister carried the same compound mutations. CONCLUSION Based on the phenotype and genetic testing, the patients were diagnosed as PFIC2 caused by mutation of the ABCB11 gene. The c.3223C>T is a novel nonsense mutation which may cause premature termination of translation. Above results have enriched the spectrum of ABCB11 mutations and provided new evidence for the molecular basis of PFIC, which also facilitated genetic counseling for this pedigree.
ATP Binding Cassette Transporter, Subfamily B, Member 11 ; genetics ; ATP-Binding Cassette Transporters ; Cholestasis, Intrahepatic ; genetics ; Female ; Genetic Testing ; Humans ; Male ; Mutation ; Pedigree ; Phenotype

Objective:To summarize the clinical phenotype and CUX2 gene variation characteristics of developmental epileptic encephalopathy type 67 confirmed by whole exome sequencing. Methods:Clinical data of 1 case diagnosed as CUX2 gene mutations related developmental epileptic encephalopathy type 67 in the Children′s Hospital Affiliated to Zhengzhou University in January 2021 were collected, the patient′s clinical characteristics, genetic testing, head imaging, electroencephalogram results and treatment were summarized, and the patient was regularly followed-up every 3 months. At the same time, the domestic and foreign literatures on epileptic encephalopathy caused by CUX2 gene mutation were reviewed. Results:The proband was a 6 years and 4 months old girl. The main clinical manifestations included focal origin progression to bilateral tonic-clonic seizures, retardation of intellectual, language, and motor development, autistic behavior, hyperactivity disorder, and involuntary hand clapping. The video electroencephalogram showed extensive spiny slow wave and multi-spiny slow wave emission in waking and sleeping stages, and spiny slow wave and spiky slow wave emission in bilateral anterior head in sleeping stage. Brain magnetic resonance imaging (MRI) plain scan and T 2-fluid attenuated inversion recovery (T 2-FLAIR) thin layer scan showed that the signal of the left hippocampus was higher than that of the right, and the left hippocampus was slightly swollen. One month later, the brain MRI and T 2-FLAIR were reexamined. The left hippocampal signal was still slightly higher and decreased, and the hippocampal volume was slightly reduced. Whole exome sequencing showed the CUX2 gene with c.1768G>A(p.Glu590Lys) heterozygous missense variant, which was a reported de novo pathogenic variant and both of her parents were wild-type. A total of 10 cases of new heterozygous missense variants in CUX2 gene [c.1768G>A (p.Gelu590Lys)] were reported in 4 literatures. No relevant cases have been reported in China. Conclusions:Developmental epileptic encephalopathy type 67 is relatively rare. The main clinical features are seizures, global developmental delay, movement disorders, athetosis, autism and hyperactivity disorder. The heterozygous missense variant c.1768G>A (Glu590Lys) of CUX2 gene maybe the genetic cause of this case.

Objective To study the value of reduced field-of-view (rFOV DWI) in differentiating patients with solid pancreatic focal lesions.Methods 139 patients with solid pancreatic mass were enrolled,including 105 patients with pancreatic ductal acinar carcinoma (PDAC),16 patients with neuroendocrine neoplasms,7 patients with mass forming chronic pancreatitis (MFCP) and 11 patients with solid papillary tumor (SPT).38 healthy adult volunteers served as controls,and underwent single stimulated echo planar imaging (ss-EPI) DWI and rFOV DWI(b value =0 and 600 s/mm2) MRI examination.Quartation method was used to evaluate the image quality of ss-EPI) DWI and rFOV DWI in the three terms of the visibility of anatomical structure,contrast of pancreatic lesions,motion and the susceptibility artifacts during MRI.Work station self-carried software was used to measure the ADC value of the region of interest (ROI).The image quality and ADC values of different pancreatic diseases and normal pancreas were compared.ROC curve for ADC value was drawn to evaluate the difference among PDAC,other benign pancreatic masses and normal pancreas.Results At b value of 0 and 600 s/mm2,rFOV DWI was superior to ss-EPI DWI in terms of showing pancreatic anatomic structure,the contrast of the lesion and the score evaluation for susceptibility artifacts(b =0 s/mm22.99 ±0.51 vs 2.79 ±0.64,2.37±0.48 vs 1.81 ±0.63,3.17 ±0.56 vs 2.91 ±0.60;b =600 s/mm23.63 ±0.50 vs 3.32 ±0.56,3.45 ±0.50 vs 3.01 ±0.49,3.74 ±0.44 vs 3.12 ±0.37),and the differences were statistically significant (P＜0.001).ADC values of PDAC,NET,MFCP,SPT and normal pancreas were (1.38 ± 0.17) × 10-3,(1.22 ± 0.35) × 10-3,(1.29 ± 0.13) × 10-3,(1.04 ± 0.38) ×10-3and(1.86±0.15) ×10-3mm2/sforrFOV DWI,and (1.73 ± 0.24) ×10-3,(1.63±0.39) ×10-3,(1.58±0.19) × 10-3,(1.25±0.26) × 10-3 and(2.04±0.20) × 10-3mm2/s for ss-EPI DWI.The difference on ADC values among different groups and within one group were all statistically significant (P ＜0.001).There were no statistical significant differences on ADC values between MFCP and PDAC,between MFCP and SPT as well as on ss-EPI DWI ADC values between PDAC and NET,but statistical differences were found between other two groups (P ＜ 0.05).The area under the ROC curve of rFOV and ssEPI DWI was 0.983 (95％ CI 0.944-0.998) and 0.889 (95％ CI 0.822-0.936),respectively,and the difference was statistically significant (P =0.0004),but rFOV DWI and ss-EPI DWI ADC values for PDAC and all benign solid diseases were 0.799 (95％ CI 0.719-0.864) and 0.755 (95％ CI 0.672-0.827),and the difference was not statistically significant.Conclusions rFOV DWI could significantly enhance the quality of DWI images,and its diagnostic efficacy was much better than ss-EPI DWI.