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[Objective]To study the rare alleles frequencies and sequences of Expressmarker 22 kit in Guangdong Han Population.[Methods]3495 Samples from unrelated individuals in Guangdong Han Population were screened by using AGCU Expressmarker 22 kit(EX22)and ABI 3100 Genetic Analyzer. Then analyzed the frequencies of the off-ladder(OL)alleles and sequenced the rare alleles obtained based on comparison with the STRBase database and litera-ture.[Results]33 off-ladder alleles with 25 rare alleles were found in 10 STR loci,and allele frequencies ranged from 0.0003~0.0046. Sequencing of the11unreported rare OL alleles showed that most of them have incomplete repeats.[Conclusion]Off-ladder alleles especially the rare alleles are helpful to improve the power of discrimination and the power of exclusion and to provide samples which will be added its allele into ladders These OL-alleles will supplement forensic DNA database.
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OBJECTIVES@#To investigate the single nucleotide polymorphism （SNP） and haplotypes in differentially methylated region （DMR） upstream of H19 gene in Guangdong Han population.@*METHODS@#The PIA typing and restriction enzyme McrBC and HpaⅡ were used to digest the genomic DNA and obtain the individual uniparental DNA template strand. The data of uniparental SNP alleles, genotypes and haplotypes in DMR upstream of H19 gene were obtained by sequencing.@*RESULTS@#A total of 13 SNPs （rs10840167, rs2525883, rs12417375, rs4930101, rs2525882, rs2735970, rs2735971, rs11042170, rs2735972, rs10732516, rs2071094, rs2107425, and rs4930098） and one mutation locus （g7351c） were found. All loci followed the Hardy-Weinberg equilibrium （P>0.05） by statistical analysis. Except for rs12417375 （DP=0.279） locus, the DP of remaining 12 SNPs were 0.446-0.614, and the g7351c mutation locus （DP=0.013） was the particular loci of the Southern Chinese Han population. Eight haplotypes （designated as haplotype 1-8） were detected, in which 3 haplotypes had not yet been reported and the DP, PIC, PE and H were 0.891, 0.714, 0.524 and 0.758, respectively.@*CONCLUSIONS@#Obtained by PIA typing, the SNP in DMR upstream of H19 gene and its haplotypes genetic marker system have a high determination power and show a good practical value in forensic identification.
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Humans , Alleles , Asian People/genetics , China , DNA , Gene Frequency , Genetic Markers , Genetics, Population , Genotype , Haplotypes/genetics , Polymorphism, Single NucleotideABSTRACT
Objective To analyze the ultrasonographic appearance of thyroglossal duct cysts and thyroglossal duct ifstula, and disicuss the value of ultrasonography in the diagnosis of thyroglossal duct cysts and thyroglossal duct ifstula. Methods Totally 142 cases of surgically and pathologically conifrmed thyroglossal duct cysts and thyroglossal duct ifstula cases in Beijing Children′s Hospital Afifliated to Capital Medical University from 2005 to 2012 were retrospectively reviewed and the ultrasonographic characteristics were analyzed. Results Among 142 cases, 128 cases of thyroglossal duct cyst were diagnosed by ultrasound. The ultrasonographic manifestation generally presented as anechoic and uneven medium echo cystic masses, with posteria wall echo enhancement. Most of the cyst walls were thin, and close to the thyoid, with or without deep ifstula. If the cysts were associated with infection, the wall would be thickening and echo enhancement of the surrounding soft tissue could be seen. Cysts ranged from the root of tongue to the suprasternal fossa, mostly in midline level of the neck. Of all the 128 cases, 95 cases were single cyst, round in shape; 33 cases had irregular shape with a fistula extended deeply, 13 cysts extended to the hyoid trailing edge, 20 cases extended to the mouth lfoor. Ultrasound examination revealed ifstulas in 10 cases, which presented as a hypoechoic thin strip-like echo inside the neck soft tissue, 6 cases extended to the hyoid bone direction, 2 cases extended to the mouthlfoor, 2 cases extended to the front thyroid. The other 4 cases showed anterior hypoechoic area, without cyst or ifstula structure. Conclusions Ultrasound is valuable in detcting the size, position, internal echo of the cyst and sinus, as well as showing their relationship with the hyoid. It is an optimal choice for the diagnosis of thyroglossal cyst and thyroglossal ifstula.
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Objective To describe the sonographic appearance of mesenchymal hamartoma of the liver(MHL)and to analyze the diagnostic value of ultrasound.Methods Eleven surgically and pathologically confirmed cases of MHL from January 2005 to May 2011 in the Beijing Children′s Hospital were retrospectively reviewed.Results Ultrasound examinations showed 9 cystic hamartomas,including 7 multiseptate cystic and 2 monocystic lesions.Of the 7 multiseptate cystic hamartomas,4 had a honeycomb appearance and 3 had irregularly-distributed multiple cysts with varied septations.Of the 2 monocystic hamartomas,1 had a large cystic portion while the other was mainly solid with approximately 4% cystic portion of the tumor.Two cases in this group were solid,presenting with a well-defined homogenous mass.Conclusions Ultrasonography is an effective imaging modality for the diagnosis for MHL.A mixed or a mainly-cystic liver mass found in a child less than 2 years old should be suspicious for MHL.
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Objective To summarize the sonographic characteristics of Peutz-Jeghers syndrome in children and investigate the diagnostic value of ultrasound.Methods Retrospective analysis of sonographic characteristics of 19 cases with pathologically-confirmed Peutz-Jeghers syndrome were conducted.ResultsExcept for one child,other 18 patients all had more than one polyp with the maximum of sixteen.The polyp with the smallest size of 0.8 cm×0.5 cm×0.8 cm was found in left colic flexure,while the largest one was found in superior rectal with a measurement of 7.6 cm×2.7 cm×3.6 cm.The polyps showed radiatiform echotexture.And hypoechoic and hyperechoic components were present alternately.Blood flow was easily identified within these polyps by color Doppler sonography.Intussusceptions were observed in 11/19 patients.Among them,10 cases were located at small intestine.The sonographic finding was a concentric structure with a polyp at the top.Conclusions The sonographic appearence of Peutz-Jeghers syndrome is characteristic.Before surgery,ultrasonographic examination could achieve a accurate diagnosis for Peutz-Jeghers syndrome.
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Objective To study the changes of flow parameters of superior mesenteric artery (SMA) in children with abdominal type Henoch-Schonlein purpura (HSP) using color Doppler ultrasound.Methods Ten children with abdominal type HSP and 17 controls were included in present study.The blood flow parameters of SMA[including peak velocity(PV),end-diastole velocity(EDV),resistant index(RI)]were measured at acute and recovery stage separately.Statistical analysis was conducted among groups.Results PV were (41.57±8.02)cm/s,(33.38±7.44)cm/s and (35.34±9.73)cm/s in acute stage,recovery stage and control group,respectively.There was no statistically significant difference among groups(F=2.471,P=0.10).EDV were(7.63±4.28)cm/s,(4.23±2.57)cm/s and (3.77±0.87) cm/s in acute stage,recovery stage and control group,respectively.There was significantly significant differences between acute stage group and other two groups(t=0.066,P=0.025;t=0.059,P=0.003).RI were (0.85±0.17),(1.00±0.15) and (1.04±0.13) in acute stage,recovery stage and control group,respectively.Also there was significantly significant differences between acute stage group and other two groups(t=1.391,P=0.020;t=1.239,P=0.026).Conclusion For abdominal type HSP in children,the changes of PV,EDV and RI of SMA were significant,which may help us determine the stage of disease.
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<p><b>BACKGROUND</b>Intake of melamine can cause renal and ureteral lithiasis in infants and children. The present study aimed to understand the value of ultrasonography in the diagnosis of renal and ureteral lithiasis in infants and young children caused by melamine, and the characteristics of ultrasonograms of melamine-associated calculi.</p><p><b>METHODS</b>Ultrasonographic examination on the urinary system was performed for 28 332 children who ingested milk powder that was possibly tainted with melamine; 395 of the children were diagnosed by ultrasonography as having urinary calculus, and 231 cases had lump-like calculi and 164 cases had sand gravel-like calculi. The features of the calculi, the sites of obstruction and the status of hydronephrosis and hydroureterosis were analyzed. Ultrasonographic reexamination was performed for 116 patients and the findings were compared with those of the first ultrasonography, and the short-term expulsion of the calculi was evaluated.</p><p><b>RESULTS</b>Most of the 395 patients with urinary lithiasis, except for those who developed renal failure, had no symptoms. The whole profile of the calculi could be seen in most of the cases, because the echogenicity of the calculi with no sharp or absent acoustical shadowing, was weaker as compared with those from calcium-containing calculi. Comet tail sign could be seen behind the echogenicity of single gravel calculus. The rate of diagnostic consistency of ureteral lithiasis between the ultrasound and the results of clinical observation (including stones expelled spontaneously or after cystoscopic intervention) in 51 cases for 76 ureters was 100%. Percutaneous renal biopsy was performed for one case, and histopathological examination showed flocculent, fine strip-like, ellipse and circular deeply stained sand gravel-like material in the renal tubules, and the circular calculi were found to be attached to the walls of the tubules. Chemical analysis of the calculi expelled from 12 cases showed that the main contents of the calculi were uric acid and melamine. Short-term ultrasound reexamination in 116 patients showed that gravel-like calculi disappeared in 80.4% of the cases; in 26 non-hospitalized cases who had lump-like calculi without hydronephrosis or hydroureterosis, none of the lump-like calculi were expelled.</p><p><b>CONCLUSIONS</b>The ultrasonographic findings of urinary calculi in children caused by ingestion of melamine-tainted milk powder have a certain features as compared to the calculi containing calcium. Careful ultrasound examination can avoid missed diagnoses of ureteral calculi. Most of the gravel-like calculi can be expelled within a short period of term, while lump-like calculi can hardly be expelled. Ultrasonography is an accurate and reliable method of diagnosis of urinary calculus caused by melamine intake in children and it can be used as diagnostic method of choice although abdominal X-ray plain film can also visualize some of larger calculi.</p>
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Child , Child, Preschool , Female , Humans , Infant , Male , Triazines , Poisoning , Ultrasonography , Urinary Calculi , Diagnostic Imaging , PathologyABSTRACT
Objective To study the ultrasonographic characteristics of Wilms′tumor (WT), aims at elevating the diagnostic level.Methods We retrospectively studied sonographic features in 30 cases of WT proved by operation and pathology.Results The tumors with heterogeneous pattern of solid and cystic tissue were shown in 22 cases.Seven cases demonstrate predominantly echogenic tumor. A huge cystic mass with numerous septas was shown in 1 case. The tumor extended into renal pelvis in 4, into renal vine in 1.The tumor metastasized to lymphnod in 1, to bilateral lungs in 1. Among 30 cases, the tumor was huge and grew beyond the renal profile in 26 cases, in 3 cases the tumors took up the renal sinus and made its structure turbulence, the renal shape was approximately normal.One case was extrarenal WT,the tumor located in retroperitonemu.Conclusions Sonographically, typical WT is a large heterogeneous mass within or without cystic areas, it also can be a pure cyst. It is easy to diagnose. When the tumor is limited to renal outline, it is easy to confusion with renal cancer. In addition, there are bilateral WT and extrarenal WT. The sonographic characteristics is similar among WT, clear cell sarcoma of kidney, malignant rhabdoid tumor and congenital mesoblastic nephroma. It is difficult to distinguish them from ultrasonography.