Analysis of genetic variation for a child affected with congenital insensitivity to pain with anhidrosis and albinism by whole genome sequencing / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic variation of a Chinese family affected with congenital insensitivity to pain with anhidrosis and albinism.@*METHODS@#Whole exome sequencing (WES) was carried out to screen potential variants within genomic DNA extracted from the proband and his parents. Whole genome sequencing (WGS) was applied when variants were not found completely. Suspected variants were validated by Sanger sequencing.@*RESULTS@#WES has identified a heterozygous c.1729G>C (p.G577R) variant of NTRK1 gene and two heterozygous variants of OCA2 gene, namely c.1363A>G (p.R455G) and c.1182+1G>A. WGS has identified two additional heterozygous variants c.(851-798C>T; 851-794C>G) in deep intronic regions of the NTRK1 gene.@*CONCLUSION@#The compound heterozygous variants of the NTRK1 gene probably underlay the congenital insensitivity to pain with anhidrosis. And the compound heterozygous variants of the OCA2 gene probably underlay the albinism in the proband. In the case where no variant is detected by WES in the coding region, WGS should be considered to screen potential variants in the whole genome.

Analysis of TWNK variant in a family affected with Perrault syndrome / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic etiology of two patients with Perrault syndrome (PRLTS) in a family.@*METHODS@#Whole exome sequencing (WES) was carried out to screen potential variants within genomic DNA extracted from the proband. Suspected variants were validated by clinical data and results of Sanger sequencing.@*RESULTS@#WES has identified two heterozygous variants of TWNK gene, namely c.1172G>A (p.Arg391His) and c.1844G>C (p.Gly615Ala). Sanger sequencing confirmed that the c.1172G>A (p.Arg391His), a known pathogenic variant, was derived from her father, while the c.1844G>C (p.Gly615Ala), a novel variant, was derived from her mother. Her brother, who was similarly affected, has carried the same compound heterozygous variants.@*CONCLUSION@#The compound heterozygous variants c.1172G>A (p.Arg391His) and c.1844G>C (p.Gly615Ala) of the TWNK gene probably underlie PRLTS in the sib pair. The above results have facilitated genetic counseling and prenatal diagnosis for the affected family.

Analysis of MYH3 gene variation and prenatal diagnosis for two pedigrees affected with congenital arthrogryposis / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic etiology of two pedigrees affected with congenital arthrogryposis.@*METHODS@#Whole exome sequencing (WES) was used to screen potential variations in the proband. Suspected variations were analyzed with bioinformatics software and validated by Sanger sequencing.@*RESULTS@#A heterozygous c.1123G>A (p.Glu375Lys) variation was detected in the proband and an affected fetus from pedigree 1, while a de novo heterozygous c.118 G>A (p.Val40Met) variation was detected in an affected fetus from pedigree 2.@*CONCLUSION@#The two heterozygous variations of the MYH3 gene probably underlie the disease in the pedigrees. Above results have facilitated genetic counseling and prenatal diagnosis.

Variant analysis for a pedigree affected with limb-girdle muscular dystrophy type 2D / 中华医学遗传学杂志

OBJECTIVE@#To analyze variant of SGCA gene in a Chinese pedigree affected with limb-girdle muscular dystrophy type 2D with whole exome sequencing (WGS).@*METHODS@#Multiplex ligation-dependent probe amplification (MLPA) was employed to detect large fragment deletion or duplication of the DMD gene. FastTarget next generation sequencing was used to detect variants of the DMD gene, and the result was verified by Sanger sequencing. After excluding the diagnosis of DMD for the proband, WGS was applied to test the proband and his parents. Suspected pathogenic variants were validated by Sanger sequencing.@*RESULTS@#No variant, deletion or duplication of the DMD gene was detected. Whole exome sequencing showed that the proband has carried compound heterozygous missense variants c.409G>A (p.Glu137Lys) and c.409G>C (p.Glu137Gln) in exon 5 of the SGCA gene, which were respectively inherited from his mother and father. Neither variant was found in DNA derived from the cord blood sample.@*CONCLUSION@#The c.409G>A (p.Glu137Lys) and c.409G>C (p.Glu137Gln) compound heterozygous missense variants probably underlie the disease in the proband. Above finding has facilitated genetic counseling and prenatal diagnosis for the family.

Analysis of SACS mutation in a family affected with autosomal recessive spastic ataxia of Charlevoix-Saguenay / 中华医学遗传学杂志

OBJECTIVE@#To carry out mutation analysis for a Chinese family affected with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).@*METHODS@#Whole exome sequencing (WES) was used to screen potential mutations within genomic DNA extracted from the proband. Suspected mutation was validated by combining clinical data and results of Sanger sequencing.@*RESULTS@#A homozygous deletional mutation c.3665_3675delGTGCTGTCTTA (p.S1222fs) was found in the proband, for which her parents were both heterozygous carriers.@*CONCLUSION@#WES is capable of detecting mutation underlying this disorder and facilitating genetic counseling and prenatal diagnosis for the affected family. A novel pathogenic mutation of the SACS gene was discovered.

Whole exome sequencing analysis for a Chinese pedigree affected with X-Linked intellectual disability / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To explore the clinical features and genetic mutation in a family affected with non-syndrome X-linked intellectual disability (NS-XLID) using whole exome sequencing (WES).</p><p><b>METHODS</b>Multiplex ligation-dependent probe amplification (MLPA) was applied to screen potential mutations of Fragile X syndrome (FXS). Whole exome sequencing (WES) and Sanger sequencing were screen for pathological mutations.</p><p><b>RESULTS</b>FXS was excluded by MLPA analysis. WES has discovered in the proband an ARX gene mutation c.88G>T, which was confirmed by Sanger sequencing. Combining his clinical phenotype with information from the OMIM database, it was inferred that the ARX mutation probably underlies the NS-XLID in the proband. The same mutation was found in his mother and two uncles but not in his father and sister.</p><p><b>CONCLUSION</b>WES is capable of revealing the mutation underlying NS-XLID and can facilitate genetic counseling for the affected families.</p>

Mutation analysis and prenatal diagnosis for 50 pedigrees affected with Duchenne/Becker muscular dystrophy / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To establish individualized prenatal diagnosis program for families affected with Duchenne/Becker muscular dystrophy (DMD/BMD) and different clinical background using a variety of methods.</p><p><b>METHODS</b>Multiplex ligation-dependent probe amplification (MLPA) was performed on 50 patients suspected for DMD/BMD. For single exon deletions of the DMD gene, PCR was used for validating the results. For those without any deletion or duplication, Sanger sequencing was used to screen for DMD gene mutations in the children and their mothers. Prenatal genetic testing was provided to female carriers using chorionic villus, amniocentesis or cord blood samples. To ensure the accuracy of diagnosis, all prenatal specimens were also subjected to linkage analysis.</p><p><b>RESULTS</b>Among the 50 patients with DMD/BMD, 23 harbored large deletions, 11 only had single exon deletions, 10 harbored duplications, and 5 had small scare mutations. No mutation was detected in one family. For 37 women undergoing prenatal diagnosis, 10 fetuses were identified as affected males, 6 were female carriers, while 21 were not found to carry any mutation. Testing of creatine kinase was consistent with the results of prenatal diagnosis. For a patient harboring exon 51 deletion, the same mutation was found in a fetus but not in their mother. The proband and fetus had inherited the same haplotype, which suggested that the mother probably has germline mosaicism for the mutation.</p><p><b>CONCLUSION</b>Application of individualized methods for analyzing pregnant women with different clinical background can minimize the risk for giving birth to further children affected with DMD/BMD.</p>

Effects of Different Processes on Contents of Three Alkaloid Ingredients in Coridalis Rhizoma / 中国中医药信息杂志

Objective To explore the effects of different processes on the contents of three alkaloid ingredients in Coridalis Rhizoma.Methods The contents of three alkaloid ingredients (protopine, dehydrocorydaline, tetrahydropalmatine) were determined by HPLC. Agilent HC-C18(2) column (4.6 mm × 250 mm, 5μm) was set at 35℃; acetonitrile-0.1% phosphoric acid solution (triethylamine adjusted pH 5.3) (26:74) was set as mobile phase; the flow rate was 1.0 mL/min and detection wavelength was set at 280 nm; the injection volume was 10μL. The three components were separated well under these chromatographic conditions. The linear relationship between the mass of each component and the peak area was good (r2≥0.9996). The average recoveries were 100.31%, 99.34%, and 99.34%, respectively (RSD≤2.70%).Results The contents of protopine, dehydrocorydaline, tetrahydropalmatine and the total contents of three alkaloids were higher than other groups in large size samples (diameter of fresh products was 2.0–3.0 cm) which were boiled 5–6 minutes, the medium size samples (diameter of fresh products was 1.5–1.9 cm) which were boiled 2–4 minutes and the small size samples (diameter of fresh products was 0.7–1.4 cm) which were boiled 1–2 minutes. The contents of alkaloid in boiled process were lower than steamed process.Conclusion The Results of study provide an experimental basis for origin processing of Coridalis Rhizoma.

Clearance of free fetal DNA after delivery of fetuses carrying chromosomal aneuploidies / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To explore the rules for free fetal DNA clearance after delivery of fetuses carrying chromosomal aneuploidies.</p><p><b>METHODS</b>For 10 women carrying 18-to-25-gestation-week singletons confirmed to have chromosomal abnormalities by amniotic karyotyping, 5 mL of peripheral venous blood was drawn respectively before and 15 minutes, 30 minutes, 60 minutes, 120 minutes, 3 hours, 6 hours, 9 hours, 12 hours, 24 hours, 48 hours and 72 hours after their elective termination of pregnancies. Free fetal DNA was isolated from the plasma and subjected to high throughput sequencing.</p><p><b>RESULTS</b>Statistical analysis of the sequence information showed that the free DNA of fetuses with trisomy 21 or 18 was rapidly cleared after delivery. The average half-life was approximately 1.24 hours within the first 2 hours after delivery. It was then slowly cleared between 6 and 72 hours, with an average half-life of 11.70 hours. No fetal DNA was detectable 72 hours after delivery.</p><p><b>CONCLUSION</b>Free fetal DNA rapidly decreases after delivery and will completely disappear by 72 hours. Above results may provide a basis for clinical application of the non-invasive detection of chromosomal aneuploidies during prenatal diagnosis.</p>

Mutation analysis for a Chinese family affected with Escobar syndrome by whole exome sequencing / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To carry out mutation analysis for a Chinese family affected with Escobar syndrome.</p><p><b>METHODS</b>Whole exome sequencing (WES) was employed to detect potential mutation in the proband. Suspected mutations were validated by combining clinical data and result of Sanger sequencing.</p><p><b>RESULTS</b>A homozygous missense mutation c.715C>T (p.R239C) was detected in the proband and his brother who was also affected. The parents and the daughters of the proband carried the heterozygous mutation c.715C>T, while other family members did not carry the mutation.</p><p><b>CONCLUSION</b>Escobar syndrome is a rare genetic disorder. WES is able to discover genetic mutation underlying this disorder and facilitate genetic counseling and prenatal diagnosis for the affected family.</p>

Mutation analysis and prenatal diagnosis for 12 families affected with hereditary hearing loss and enlarged vestibular aqueduct / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To carry out mutation analysis and prenatal diagnosis for 12 families affected with hearing loss and enlarged vestibular aqueduct from southern Zhejiang province.</p><p><b>METHODS</b>Clinical data and peripheral venous blood samples of 38 members from the 12 families were obtained. Mutations of 4 genes, namely SLC26A4, GJB2, c.538C to T and c.547G to A of GJB3, m.1555A to G and m.1494C to T of 12S rRNA, were detected by PCR and Sanger sequencing. Maternal contamination was excluded by application of STR detection during prenatal diagnosis.</p><p><b>RESULTS</b>Among the probands from the 12 families, 11 were found to be compound heterozygotes or homozygotes and 25 were heterozygotes. All of the families were detected with IVS7-2A to G mutations, and 4 had a second heterozygous mutation (c.2168A to G of the SLC26A4 gene). Four rare pathogenic mutations, namely IVS5-1G to A, c.946G to T, c.1607A to G and c.2167C to G, were detected in another four families. In addition, the partner of proband from pedigree 3 was identified with compound heterozygous mutations of c.235delC and c.299-300delAT, and proband of pedigree 5 has carried a mutation of c.109G to A in GJB2. For SLC26A4 gene, prenatal diagnostic testing has revealed heterozygous mutations in 6 fetuses and compound heterozygous mutations in 2 fetuses.</p><p><b>CONCLUSION</b>IVS7-2A to G and c.2168A to G of the SLC26A4 gene were the most common mutations in southern Zhejiang. Such mutations can be found in most families affected with hearing loss and enlarged vestibular aqueduct, which may facilitate genetic counseling and prenatal diagnosis for such families.</p>

Analysis of clinical phenotypes and GJB2 gene mutations in families affected with hearing loss from southern Zhejiang / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To analyze the clinical features and pathological mutations in 44 families affected with hearing loss from southern Zhejiang, and to provide genetic counseling and prenatal diagnosis for 6 of the families.</p><p><b>METHODS</b>Microarray was employed to detect c.35delG, c.176del16, c.235delC and c.299-300delAT mutations of the GJB2 gene among 228 patients. For those carrying a single heterozygous mutation, the whole coding region of the GJB2 gene was analyzed by Sanger sequencing. For prenatal diagnosis, maternal DNA contamination was excluded by application of STR analysis.</p><p><b>RESULTS</b>The microarray assay has detected 49 patients with GJB2 mutations, which included 24 homozygous c.235delC mutations, 5 compound heterozygous c.235delC/c.176del16 mutations, 2 compound heterozygous c.235delC/c.299-300delAT mutations. Respectively, 16, 1 and 1 patients have carried single heterozygous c.235delC, c.176del16, and c.299-300delAT mutation. For the 16 patients, 7, 1, 1, 2, and 3 were detected by Sanger sequencing with a second heterozygous mutation of c.109G>A (2 of which were in conjunction with heterozygous c.176del16 and c.299-300delAT mutations), c.230G>A, c.427C>T, c.508-511 dupAACG, 79G>A+341A>G, respectively. Prenatal diagnosis revealed a compound heterozygous mutation in a fetus, heterozygous mutations in 4 fetuses, and no mutation of the GJB2 gene in 1 fetus.</p><p><b>CONCLUSION</b>The proportion of carriers for GJB2 gene mutations in patients with hearing loss from southern Zhejiang has reached 21.5%. The c.235delC, c.176del16, and compound c.299-300delAT and c.109G>A mutations can cause moderate to severe hearing loss. In most affected families, Heterozygous mutations may be identified by sequencing the whole coding region of the GJB2 gene. Genetic analysis and prenatal diagnosis can prevent birth of further affected children.</p>

Mutational analysis and prenatal diagnosis in a family affected with hypophosphatemic rickets / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To explore the clinical characteristics and genetic mutation in a family affected with hypophosphatemic rickets.</p><p><b>METHODS</b>Whole exome sequencing (WES) was used to screen potential mutations in genomic DNA extracted from peripheral venous blood sample from the proband. Suspected mutation was confirmed with Sanger sequencing. Amniotic fluid was sampled from the proband for prenatal diagnosis. Potential maternal contamination was excluded by analysis of short tandem repeat (STR) markers.</p><p><b>RESULTS</b>WES has identified a heterozygous c.2058_2059insAGTT (p.L686fs) mutation of the PHEX gene in the proband, which was confirmed by Sanger sequencing in other affected individuals from the family. The mutation was detected in the amniotic fluid sample from the fetus but not among healthy members from the family.</p><p><b>CONCLUSION</b>Identification of the PHEX mutation by WES has facilitated genetic counseling and prenatal diagnosis for the family affected with hypophosphatemic rickets.</p>

SNP array analysis of three cases with partial 21q trisomy / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To analyze three cases with partial 21q trisomy, and correlate their genotypes with phenotypes.</p><p><b>METHODS</b>G-banding chromosomal analysis and single nucleotide polymorphism (SNP array) were performed for the three cases and their parents.</p><p><b>RESULTS</b>SNP array has detected partial 21q trisomy in three cases and one mother, with variable size and location of the duplications. Case 1 harbored a 12.35 Mb duplication at 21q22.11q22.3, which spanned the Down syndrome critical region. Case 2 harbored a 35.32 Mb duplication at 9p24.3p13.3 and a 14.42 Mb duplication at 21q11.2q21.3, with the former spanning the partial 9p trisomy syndrome critical region excluding the Down syndrome critical region, and was inherited from his mother. Case 3 harbored a 4.17 Mb tetraploidy at 21q11.2q21.1 in the form of mosaicism, which spared the Down syndrome critical region. His mother carried a 4.17 Mb triploidy at 21q11.2q21.1, which was also a mosaicism.</p><p><b>CONCLUSION</b>Partial 21q trisomy may occur in various forms and its clinical phenotypes are heterogeneous. Combined use of genetic techniques, particularly SNP array, is crucial for diagnosing partial 21q trisomy and delineating its genotype-phenotype correlation.</p>

Analysis of PKHD1 gene mutation in a family affected with infantile polycystic kidney disease / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To analyze PKHD1 gene mutation in a family affected with autosomal recessive polycystic kidney disease (ARPKD).</p><p><b>METHODS</b>Genomic DNA was extracted from peripheral and cord blood samples obtained from the parents and the fetus. Potential mutations were identified using targeted exome sequencing and confirmed by Sanger sequencing. Pathogenicity of the mutation was analyzed using PolyPhen-2 and SIFT software.</p><p><b>RESULTS</b>Compound heterozygous mutations of c.11314C>T (p.Arg3772*) and a novel missense c.889T>A (p.Cys297Ser) of the PKHD1 gene were identified in the fetus. The mother was found to have carried the c.11314C>T mutation, while the father was found to have carried the c.889T>A mutation. PolyPhen-2 and SIFT predicted that the c.889T>A mutation is probably damaging.</p><p><b>CONCLUSION</b>A novel mutation in PKHD1 gene was detected in our ARPKD family. Compound heterozygous PKHD1 mutations were elucidated to be the molecular basis for the fetus affected with ARPKD, which has facilitated genetic counseling and implement of prenatal diagnosis for the family.</p>

Role of functional magnetic resonance imaging in evaluating renal hypoxic injury in mice with lupus nephritis / 中华肾脏病杂志

Objective To investigate the utility of diffusion weighted imaging (DWI) and blood oxygen level-dependent (BOLD) magnetic resonance imaging (MRI) in the assessment of renal hypoxia in an experimental model of mice with lupus nephritis (LN).Methods MRL/lpr mice (n=13) were studied and C57BL/6 mice (n=10) served as controls.Urinary albumin to creatinine ratio (ACR),serum creatinine (Scr),anti-ds-DNA antibody,and complement C3 levels were measured.The mice underwent coronal echo-planar DWI and BOLD MRI of the kidneys when they were 14-16 weeks old.Hypoxyprobe was administered intraperitoneally to the mice 1 hour before they were sacrificed.The distribution of HypoxyprobeTM-1,hypoxia-inducible factor 1 α (HIF-1 o) and heme oxygenase-1 (HO-1) in renal tissues was detected by immunohistochemical analysis and Western blotting.Results Urinary ACR,Scr and anti-ds-DNA antibody levels in MRL/lpr mice were significantly higher than that in C57BL/6 mice.It was found that HypoxyprobeTM-1,HIF-1o and HO-1 distributed widely in the renal tissue of MRL/lpr mice,and closely associated with the renal tubulointerstitial lesion.The mean apparent diffusion coefficient (ADC) value of kidneys in MRL/lpr mice was (1.52±0.27) × 10-3 mm2/s,and the mean R2* values of the renal cortex and medulla were (30.95 ±4.59)/s and (23.43± 3.06)/s respectively,all significantly lower than that in C57BL/6 mice (P=0.037,P=0.030 and P=0.043,respectively).The ADC of medulla was negatively correlated with urinary albumin to creatinine ratio (r=-0.364,P=0.032;r=-0.329,P=0.050),the ADC of cortex was negatively correlated with the level of serum creatinine (r=-0.814,P=0.014;r=-0.755,P=0.031) when b value was 500 s/mm2 and 800 s/mm2,and the mean R2* value was negatively correlated with the degree of tubulointerstitial lesions and the expression of hypoxia parameters (all P ＜ 0.05).Conclusions Renal hypoxia may play an important role in renal tubulointerstitial lesion.Functional MRI may be used to monitor renal function changes,pathological injuries and renal hypoxia in LN.

Comparisons of combined spinal-epidural anesthesia in different puncture of gaps in urologic surgery anesthesia / 中国基层医药

Objective To explore the narcotic effects of different puncture in combined spinal-epidural block anesthesia for urological Surgery.Methods 108 cases of urologic surgery were selected.The patients were randomly divided into the two groups according to digital meter (each group had 54 cases).Both groups were treated with combined spinal-epidural anesthesia.The anesthesia puncture of group A were in lumbar intervertebral 2-3,the anesthesia puncture of Group b were in lumbar intervertebral 3-4.The respects of the two groups were observed and compared such as blood pressure before and after anesthesia,initial anesthesia plane,the time the drug arrived to the sixth thoracic vertebrae,additional lidocaine dose during the operations anesthesia quality rate and anesthesia side effects.Resuits The blood pressures of the patients of group A were significantly lower than those of group B 5 minutes after anesthesia (t =2.73,2.29,2.29,all P ＜ 0.05),the incidence of adverse reactions of Group B such as nausea,vomiting,low blood pressure,difficulty in breathing (24.1％,14.8％),was significantly lower than incidence of group A (44.4％,and 13.0％,x2 =4.97,5.07,4.86,all P ＜ 0.05) the set of initial plane of anesthesia of group a was significantly higher than that of group B (t =2.91,P ＜ 0.05),the time the drug arriving to the sixth thoracic vertebrae,of group A was significantly shorter than group B (t =2.42,P ＜ 0.05) the amounts of additional lidocaine dose of Group A during the operations were significantly less than group A (t =2.61,P ＜ 0.05).There were no significant differences in the anesthesia quality rate (P ＞ 0.05).Conclusion Selecting L3-4 puncture points in combined spinalepidural anesthesia can significantly reduce incidence of adverse reactions such as nausea,vomiting,low blood pressure and difficulty in breathing compared with selecting L2-3 puncture during urology surgery procedure.It can also reduce pain during operations.Though there are significant differences in initial level of anesthesia,the time the drug arrive to the sixth thoracic vertebrae and additional lidocaine doses,leading no effects on superior rate of anesthesia.Thus the clinical significance is not very big.

Analysis and prenatal diagnosis of deafness-related gene mutations in patients with nonsyndromic hearing loss / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To analyze deaf-related genes in patients with nonsyndromic hearing loss (NSHL) and set up a prenatal diagnosis system for such patients.</p><p><b>METHODS</b>Nine NSHL families were collected. Potential mutations of GJB2 (35delG, 176del16, 235delC, 299delAT), SLC26A4 (2168A> G, IVS7-2A> G), GJB3 (538C> T) and mtDNA (1494C> T, 12S rRNA 1555A> G) were detected by direct sequencing. Maternal blood contamination was excluded prior to the testing.</p><p><b>RESULTS</b>Sixteen patients from 4 families were detected with GJB2 mutations, 8 patients from 2 families were found with SLC26A4 mutations, and 4 patients from 2 families were found with mutations in mtDNA. For 2 patients from one remaining family, no mutations were found with above genes.</p><p><b>CONCLUSION</b>A diagnostic system for NSHL has been established, which may provide a basis for prenatal diagnosis and genetic counseling to NSHL families.</p>

Functional MR imaging of kidneys in patients with lupus nephritis / 中华肾脏病杂志

Objective To evaluate the functional magnetic resonance (MR) imaging in the assessment of renal involvement and pathological changes in patients with lupus nephritis (LN).Methods Seventeen patients with LN and 10 healthy controls underwent coronal echo-planar diffusion-weighted (DW) MR imaging and blood oxygen level dependent (BOLD) MR imaging of the kidneys with a single breath-hold time of 16 s.The apparent diffusion coefficient (ADC) and R2* value of the kidneys were calculated with high b values (b=500 s/mm2).The correlation between the renal injury variables and the ADCs or R2* values was evaluated.Results The mean ADC value of kidneys in patients with LN was (2.43+0.24)×10-3 mm2/s,the mean R2* values of the renal cortex and medulla were (11.72+2.35)/s and (13.07+2.35)/s respectively,which were all significantly lower than those in volunteers (P=0.045,P=0.048and P=0.001,respectively).In the patients with LN,the mean ADC values were positively correlated with estimated glomerular filtration rate (eGFR) (r=0.558,P＜0.05).There was a negative correlation between the ADC values of the right kidneys and pathological chronic indexes (r=-0.493,P＜0.05).Moreover,the R2*values of the renal medulla were negatively correlated with 24 hours proteinuria,serum creatinine,pathological active indexes.The patients were assigned to group A (class Ⅲ,Ⅳ,Ⅴ,n=8) and group B class Ⅴ + Ⅲ and Ⅴ + Ⅳ,n=9).The tubulointerstitial lesions in group B were more severe than those in group A,while the mean ADC values and R2* values of the renal cortex in group B were lower as compared to group A.Conclusion DW MR imaging and BOLD MR imaging may be used to non-invasively monitor the disease activity and evaluate the efficacy in lupus nephritis.

Assessment of liver fibrosis in different degree: preliminary study on multi-slice CT perfusion imaging / 中华消化杂志

Objective To evaluate the role of multi-slice CT (MSCT) perfusion in early diagnosis of liver fibrosis. Methods Thirty-three subjects underwent CT perfusion of the liver. Among whom, 11 subjects were volunteers without hepatic disease and the other 22 subjects were pathologically confirmed with liver fibrosis who were further divided into slight (n= 10) and severe (n=12)liver fibrosis according to the lshak system. Parameters of CT perfusion were measured and compared among three groups. Results The mean hepatic arterial fraction in controls, light and severe fibrosis tended to increase with the severity of liver fibrosis[(18. 49 ± 9. 69) %, (19. 92 ± 6.01) % and (21.31±7.47)% ,respectively], and the mean mean transit time tended to decrease with the severity of liver fibrosis [(13.80 ± 2. 60) s, (12.35 ± 1.31) s and (12.19 ± 3.33) s, there was no significant difference in all parameters between any two groups (P>0.05). Conclusions Quantitative measurement of hepatic blood supply can be obtained by CT perfusion. Some parameters will be helpful in staging fibrosis to a certain extent. But its clinical usefulness for the evaluation of the early diagnosis may not be affirmed yet.