Objective To evaluate the consistency of fetal brain ultrasound screening and neurosonogram (NSG) with magnetic resonance imaging (MRI),and the clinical values of ultrasound and NSG in the diagnosis of fetal nervous system abnormalities,and the values of NSG in the diagnosis of fetal brain malformations.Methods A retrospective study was conducted on 221 gravidas who were diagnosed with fetal brain development abnormality by ultrasound screening or NSG in Peking University First Hospital between January 2012 and July 2015 and received fetal brain MRI within one week after ultrasound examination.According to the saved images,the 221 cases were divided into two groups:fetal brain ultrasound basic screening group (111 cases) which had three basic transverse planes and NSG group (110 cases) which had ten basic transverse planes.There were four conditions according to the diagnostic results of ultrasonography and MRI:ultrasonography and MRI suggesting the same diseases (A);ultrasonography and MRI suggesting the same diseases,but MRI providing more information for diagnosis (B);ultrasonography and MRI suggesting different diseases (C);ultrasonography suggesting abnormal,but MRI suggesting normal (D).Diagnostic results of ultrasonography and MRI were respectively comparatively analyzed in the two groups.T-test and Chi-test were used for statistical analysis.Results The diagnostic results for NSG group and fetal brain ultrasound basic screening group were listed as follows:A:70.9％(78/110) and 44.1％(49/111);B:7.3％ (8/110) and 8.1％ (9/111);C:3.6％ (4/110) and 21.6％ (24/111);D:18.2％ (20/110) and 26.1％ (29/111).The consistency with MRI results was higher in NSG group than that of fetal brain ultrasound basic screening group (x2=18.985,P＜0.001).Conclusions Compared with fetal brain ultrasound basic screening,NSG provides more consistent results with MRI,suggesting its great clinical value in the diagnosis of fetal nervous system malformations.

Objective To quantify the white matter hyperintensity (WMH) with serial MRI in elderly people with cerebrovascular disease, and to evaluate the risk factors that may have impact on their progression.Methods One hundred and thirty-eight patients with cerebrovascular disease underwent twice MRI scans with a 1.5T MR scanner at least one year apart (mean = 13.8 months). The clinical data of all patients, including age, gender, systolic blood pressure, blood glucose level, serum lipid level, alcohol consumption and smoking were recorded at baseline, as well as the historical informations concerning hypertension, diabetes mellitus and hypercholesterolemia. Besides, the overall severity of cognitive impairment and neural deficit of patients were rated by Mini-Mental State Examination (MMSE) and the National Institute of Health Stroke Scale (NIH). MRI measures included volume of gray matter infarction, volume of white matter infarction, and baseline volume of WMH. The volumetric changes of WMH between the twice scans were assessed using a semi-automated software. The influence of risk factors on changes of WMH volume was analyzed. Correlation coefficients were calculated between clinical scales and the change of WMH volume. Results The Baseline WMH volume was(13155?18782) mm3, and the volumetric change of WMH was(7687?9079) mm3. Multiple regression analyses revealed that the occurrence of infarction in cortex and in white matter was significantly associated with the volumetric change of WMH, as well as the baseline WMH volume. The volumetric changes of WMH were related to MMSE and NIH score (r=-0.266,P=0.002; r=0.257,P=0.002). The total infarcted volumes were associated with the volumetric change of WMH (r=0.416,P

Objective To evaluate the diagnostic efficacy of MRS in prostate cancer based on sextant localization. Methods There were 110 patients, 54 patients with pathologically confirmed prostate cancer and 56 patients confirmed non-prostate cancer proved by ultrasound guided systemic biopsy. The (choline + creatine)/citrate (CC/C) value in each voxel and ratio of positive voxel (PVR) in sextant localization were measured. The ROC analysis was used to evaluate the diagnostic efficacy of CC/C in single voxel and PVR in sextant localization. Results There are 1673 and 2426 voxel in prostate cancer and non-prostate cancer respectively. The median of CC/C in cancer sextants was 2. 137; the median of CC/C in noncancer sextants was 0. 600. The difference of these two groups was statistically significant (Z = -41.7, P < 0. 01 ). The diagnostic sensitivity was 81.4% ( 1362/1673 ), the specificity was 83.1% (2018/2426), and the accuracy was 82.4% [ (1362+2018)/4099] for prostatic cancer with the cutoff point 0. 911 of the CC/C value. The median of PVR in cancer sextants and noncancer sextants were 1 and 0 respectively, the difference of PVR was statistically significant (Z = -11.7,P < 0.01 ). The diagnostic sensitivity was 77. 5% (148/191), the specificity was 76. 9% (247/321), and the accuracy was 77. 1% [ ( 148 + 247 )/ 512] for prostatic cancer with the cutoff point 0. 519 of the PVR. Conclusion Detecting the cutoff point of the CC/C value in single voxel and the PVR in sextant localization may be valuable in the diagnosis of prostate cancer.

Objective To analyze the clinical and imaging characteristics of congenital sensorineural hearing loss (CSNHL)children combined with white matter (WM)lesions in order to provide evidence for clinical practice. Methods With referral to the Department of Pediatrics,Peking University First Hospital from November 201 1 to De-cember 201 5,documents of 78 patients of CSNHL combined with WMlesions were collected and analyzed for the clini-cal and imaging characteristics.Results Bilateral severe -profound hearing loss existed in all 78 cases,48.1 %(25 /52 cases)of the patients exhibited gross motor development delay,98.1 %(51 /52 cases)of them had normal cognition development.One hundred percent (61 /61 cases)of patients had abnormal language development.Infection occurring during pregnancy existed in 21 .2%(1 1 /52 cases)of the patients,the premature and smaller for the gestational age in-fants accounted for 28.9% (1 5 /52 cases).The bilateral multiple WMlesions from the brain MRI were in dot to flake sizes with sharp boundary,the intensity of T1 -weighted imaging decreased,T2 -weighted imaging and fluid attenuated inversion recovery increased.Eighty -two point one percent (64 /78 cases)of the patients were found to have the periventricular and subcortical WM involvement.The most frequently affected periventricular region was the posterior horn (91 .9%,68 /74 cases),followed by the anterior horn and temporal horn,and the least with the body involvement. The former three had a combined lesion tendency (55.4% -68.9%).There was an extensive involvement in the sub-cortical WMof parietal,frontal,temporal and occipital lobes respectively(73.5% -88.2%).Subcortical WM involve-ment of multiple lobes was common (accounted for 67.6% -77.9%).The enlargement of bilateral ventricles existed in 37.2%(29 /78 cases)of the patients and cystic changes in the subcortical WM of anterior temporal lobe could be found in 9.0% (7 /78 cases)patients.Calcification in 2 CT cases was reported.Corpus callosum and basal ganglia of all cases were normal.For cases with MRI scans more than once,WMlesions of 96.0%(24 /25 cases)patients became silent or self -restored.Conclusions The clinical presentations of CSNHL combined with WM lesions are mild,not paralleled with their multiple foci.It is considered as demyelination or a delay of myelination.Due to its benign course, it is probably not the contraindication for the cochlear implantation.

Objective To improve the knowledge of primary gout in children. Methods Clinical data of a 12-year-old girl with primary gout was collected. Analysis of UMOD gene, REN gene and HNF-1βgene was performed using PCR and di-rect sequencing. Results The girl was admitted for 1-month history of left hallux pain accompanied with elevations of serum uric acid concentration and serum creatinine concentration. Several examinations showed serum uric acid/creatinine ratio was greater than 2.5. The fractional excretion of uric acid was 3.4%-6.6%. The X-ray showed that the proximal phalanxes of halluces were erosion. The diagnosis of renal biopsy was ischemic renal injury and chronic tubulointerstitial nephropathy. Blood uric acid concentrations of parents were normal, and the family history of gout was negative. Two single nucleotide polymorphisms (c.264C>T heterozygous and c.866-71 G>A heterozygous) in UMOD gene, 1 single nucleotide polymorphism (c.373+44C>G heterozygous) in REN gene, and 2 single nucleotide polymorphisms (c.100-50-49ins TCTG heterozygous and c.781-22T>C homozygous) in HNF-1βgene were detected. No pathological mutation was detected in these 3 genes. Conclusions This child is highly suspected to have primary gout caused by familial juvenile hyperuricemic nephropathy.

A region of the D17S30(pYNZ22) locus was amplified in DNA from 120 unrelated chinese individuals was carried out. The amplified products were analysed by mini-polyacrylamide gel electrophoresis followed by silver stain. 11 alleles, ranging from 170bp to 870bp in size and from 0. 4 % to 30. 4 % in frequency, was detected. The heterozygosity was 73%, Dp value was 0.938. The family study showed that the Amp-FLP in pYNZ22 locus is inherited according to the Mendelian law. The correct genotyping results can be obtained from very little amount of biological material, such as mixed stains, blood stains, single hair and saliva.

The polymorphisms of minisatellite p33.6 (D1S111) locus were typed rapidly and accurately us- ing polymerase chain reaction (PCR). The amplified fragments were analyzed by mini- polyacrylamide gel electrophoresis followed by silver stain. The distribution of allele frequencies among 100 unrelated Chinese is reported. 14 alleles, containing 9 to 22 repeat units, had been detected with a heterozygosity of 76%. The allele frenquencies were from 0.5 %to 35.5 %. The size of amplified fragments ranged from 435 bp to 925bp. The discrimination power of p33.6 locus was 0. 916. The Amp --FLP was inherited according to the Mendelian Law. The results showed that the polymorphisms of p33.6 locus can be used for individual identification and paternity test.

DNA extracted from 100 unrelated Chinese were detected by using the Polymerase Chain Reaction (PCR), mini polyacryl gel vertical electrophorese and silver staining techniques at the p33. 4 locus. Among 100 unrelated individuals, 8 alleles were detected,Foster-Freeman BIOTRAC system indicated that the number of copies of the tandem repeats in different allele was 7, 10 to 15 respectively.There was a rare allele whose copy number was more than 13 but less than 14. The allele fragmehtlength varied from 603 to 1115bp,the allele freqency 0.5 % ~ 53. 5 %,heterozygosity 64 %,DP value84. 5 %. Pedigree analysis indicated that alleles of p33. 4 locus obey Mendel's Laws. Successful typingof various tissues and single hair folicle had confirmed that this technique is suitable for personal identification. In addition, by using Chelex we had established an alterntive method for extracting DNAfrom biological materials,whlch is rapid and easy to perform.

Objective To introduce a case of ethylmalonic encephalopathy which is an autosomal recessive metabolic disorder caused by mutations in the ETHE1 gene. Methods The clinical course and gene mutation in a case of ethylmalonic encephalopathy was retrospectively analysed. Results A previously healthy girl presented with intractable diarrhea from the age of 7 months. Since then, progressive psychomotor regression has been observed. When she was 23 months, her blood butyr-ylcarnitine was signiifcantly increased (4.48μmol/L vs. normal range 0.0~1.0μmol/L), and isovalerylcarnitine (0.70μmol/L vs. normal range 0.0~0.65μmol/L) was also elevated. Her urine levels of ethylmalonic acid and methylsuccinate acid were markedly increased. Cranial MRI revealed bilateral basal ganglia lesions supporting the diagnosis of ethylmalonic encephalopathy. On her ETHE1 gene, a reported mutation (c.488G>A, p.R163Q) and a novel mutation (c.203T>C, p.L68P) were identiifed. After lactose-free dietary treatment and the supplements of L-carnitine, coenzyme Q10, vitamins B1, B2 and C, gradual improvement in general condition, intelligence and motor development has been observed. Conclusions Ethylmalonic aciduria is common in the patients with inborn errors of mitochondrial fatty acid beta-oxidation. In ethylmalonic encephalopathy, elevated blood levels of butyrylcarnitine and isovalerylcarnitine are common and ETHE1 sequencing is helpful in its diagnosis.

Objective:To explore the value of arterial spin labeling (ASL) in detecting epileptogenic zone (EZ) in children with drug-refractory epilepsy (DRE).Methods:From March 2018 to December 2019, 28 children with DRE were collected prospectively in Peking University First Hospital. Structural MRI, ASL sequence, and PET-CT were performed on 28 DRE children. All children underwent surgical treatment. Intraoperative electrocorticogram findings combined with postoperative MRI results were considered the gold standard for locating EZ. A total of 29 EZ were resected in 28 children. Based on the pathological results, the EZ was divided into focal cortical dysplasia (FCD) Ⅰb and Ⅱa group ( n=12), FCD Ⅱ b group ( n=11) and malformation of cortical dysplasia (MCD) group ( n=6). Structural MRI was observed for finding any abnormal changes that could induce epilepsy and was divided into the normal MRI group ( n=13) and the abnormal MRI group ( n=16). The spatial relationship between abnormal areas in the cerebral blood flow (CBF) map and PET images and the gold standard was observed, and the accurate detection rate of EZ was calculated. The region of interest (ROI) on CBF and PET images was drawn. ROIs were defined as EZ, EZ contralateral zone (EZCZ), EZ adjacent zone (EZAZ), EZAZ contralateral zone (EZAZCZ). The CBF and maximum standardized uptake value (SUV max) were measured, and the asymmetry index (AI) value of EZ and EZAZ of CBF and SUV max was calculated respectively. One-way ANOVA was used to compare the difference among 4 regions and 3 pathological types of CBF, SUV max, and AI. The independent sample t-test was used to compare the difference in AI between normal and abnormal MRI groups. Results:In CBF map, the EZ was accurately localized in 89.7% (26/29) of the lesions, in which 24 EZ had decreased perfusion, and 2 EZ had increased perfusion. Among the 24 EZ with decreased perfusion, the CBF of EZ, EZCZ, EZAZ, and EZAZCZ were significantly different( F=8.79, P<0.001). In PET-CT, the EZ was accurately localized in 93.1% (27/29) of the lesions, in which 25 EZ had decreased metabolism, and 2 EZ had increased metabolism. Among the 25 EZ with decreased metabolism, the SUV max of EZ, EZCZ, EZAZ, and EZAZCZ were significantly different ( F=6.40, P=0.001). The AI value of CBF and SUV max of EZ in the abnormal MRI group were larger than those of the normal MRI group, and the difference was statistically significant ( t=3.34, 3.09, P=0.002 , 0.004). There was no statistical difference in the AI values of CBF and SUV max among FCD Ⅰb and Ⅱa group, FCD Ⅱb group and MCD group ( F=2.05, 1.54, P=0.149, 0.234). Conclusions:ASL technology is accurate in detecting EZ. The changes in perfusion and metabolism of normal structural MRI EZ are greater than abnormal structural MRI EZ. There is no obvious difference in CBF and SUVmax changes in different pathological EZ.