Child inflammatory myofibroblastic tumor of the kidney misdiagnosed as Wilms' tumor: case report.

Inflammatory myofibroblastic tumor (IMT) is a rare mesenchymal tumor with recurrent potential, most commonly occurring in the lung but rarely in the kidney with nonspecific clinical symptoms and radiographic features, thus may be misdiagnosed as primary malignant lesions. We described a 6-year-old boy with renal IMT misdiagnosed as Wilms' tumor and then treated with right nephrectomy. It should be emphasized that in addition to the most common renal tumors in children, IMT should also be taken as a differential diagnosis.

Asymptomatic adult Wilms' tumor: A case report.

Wilms' tumor, also called nephroblastoma, is an extremely uncommon kidney tumor of adulthood. We reported a adult man with a left kidney mass diagnosed as Wilms' tumor. Case presentation: A 25-year-old man was hospitalized due to injury of the anterior cruciate ligament of the right knee.

Computed Tomography and Magnetic Resonance Imaging Appearances of Abdomen and Pelvis Gossypibomas at the Varied Durations After Cesarean Section.

The incidence of gossypiboma is considerably higher in open cavity surgeries, among which cesarean section ranks number one. However, it is difficult to diagnose abdomen or pelvic gossypibomas after cesarean section. We retrospectively analyzed the clinical and imaging data of three pathologically confirmed gossypiboma patients at varied durations after cesarean section.

[Carrier diagnosis of F9 gross deletion by multiple ligation-dependent probe amplification in hemophilia B].

Objective: To investigate the application of multiplex ligation-dependent probe amplification (MLPA) in the gene diagnosis of hemophilia B (HB).

Methods: MLPA and linkage analysis of short tandem repeat (STR) were used for gene diagnoses of two HB families with gross deletions of F9 gene, which were negative by sequencing.

Results: The MLPA results indicated the loss of one or two exons in the two patients with the ratio lower than 0.

[Detection of common deletions and mutations causing α-thalassemia in Southeast Asians and Southern Chinese with denaturing high performance liquid chromatography].

Objective: To establish a comprehensive and simple assay using denaturing high performance liquid chromatography (DHPLC) for the diagnosis of most common mutations and deletions of α-thalassemia gene in Southeast Asians and Southern Chinese.

Methods: This assay has included a duplex polymerase chain reaction (PCR) followed by DHPLC analysis. An improved PCR was also performed followed by DHPLC analysis.

[Application of multiplex ligation-dependent probe amplification to diagnosis and prenatal diagnosis of common aneuploidies].

Objective: To investigate the application value of the multiplex ligation-dependent probe amplification (MLPA) technique in diagnosis and prenatal diagnosis of chromosomes 13, 18, 21, X and Y aneuploidy.

Methods: Forty-four cases including 30 peripheral blood samples, 10 fetal cord blood samples, and 4 amniotic fluid samples were collected in this study. DNA was isolated from the samples and detected by MLPA, followed by analyzing in ABI310 Genetic Analyzer.

[Improvement and application of DXS52(St14) in gene diagnosis of hemophilia A].

Objective: To improve the experimental method of DXS52 (St14) and apply it to genetic testing for hemophilia A (HA).

Methods: PCR of DXS52 and agarose gel electrophoresis were performed for genetic testing in 61 non-inversion HA families. Linkage analysis of 7 loci within the FVIII gene including Bcl I, Hind III, Xba I, STR1, STR13, STR22 and STR24 were also carried out for the 61 families.

Identification of seven novel mutations in the factor VIII gene in 18 unrelated Chinese patients with hemophilia A.

Background: Hemophilia A (HA) is an X-linked inherited bleeding disorder caused by decreased activity of factor VIII (FVIII) due to heterogenous mutations in the FVIII coding gene (F8). The type of mutation plays an important role in the FVIII inhibitor formation. To date, several studies on the spectra of F8 defects have been performed in Western populations, but similar studies in Asian races are scarce.

Rapid diagnosis of the alpha-thalassemia-1 Southeast Asian type deletion using a single tube real-time SYBR-polymerase chain reaction combined with dissociation curve analysis.

Dear Sir, A single tube polymerase chain reaction (PCR) with three primers and SYBR GREEN1 combined with dissociation curve analysis was set up that can clearly differentiate between Hb Bart's hydrops fetalis, normal subjects and - -(SEA) heterozygotes. This method seems to be simpler than that using a two-tube real-time SYBR-PCR with two different primer sets followed by analyses of DeltaC(T) and C(T) ratio.

Prenatal diagnosis of haemophilia A in China.

Objectives: To develop a one-tube fluorescent multiplexed polymerase chain reaction (PCR) method to perform prenatal diagnosis of haemophilia A (HA).

Methods: Peripheral blood samples were collected from 220 women and from members of five families with proven HA. One-tube fluorescent PCR and capillary electrophoresis were performed to investigate four short tandem repeats (STRs) in intron 1, 13, 22 and 24 (STR1, STR13, STR22 and STR24, respectively) in FVIII.

[Frequency of intron 1 inversion of factor VIII gene in Chinese hemophilia A patients with case report of a female patient with heterozygous intron 1 inversion].

Objective: To investigate the frequency of intron 1 inversion (inv1) in FVIII gene in Chinese hemophilia A (HA) patients and to investigate the mechanism of pathogenesis.

Methods: Peripheral blood samples were collected from 158 unrelated HA patients, aged 20 (1 - 73), including one female HA patient, aged 5, and several family members of a patient positive in inv1. One-stage method was used to assay the FVIII activity (FVIII:C).

Detection of alpha-thalassemia in China by using multiplex ligation-dependent probe amplification.

The multiplex ligation-dependent probe amplification (MLPA) method was used to analyze 118 DNA samples from 90 alpha-thalassemia (alpha-thal) patients and 28 normal persons from Southern China, where the main causes of alpha-thal are three large deletions (-alpha3.7, -alpha4.2, and --SEA) and two point mutations in the alpha-globin gene cluster on chromosome 16.

Molecular prenatal diagnosis of alpha-thalassemia using real-time and multiplex polymerase chain reaction methods.

Molecular analysis of two fetuses at high risk of alpha-thalassemia (alpha-thal), and their family members, was performed using real-time polymerase chain reaction (PCR) with SYBR Green 1 (SYBR-PCR) dye combined with dissociation curve analysis and multiplex PCR (m-PCR) and DNA sequencing techniques. The genotype of the fetus from one family was --SEA/--SEA (Southeast Asian deletion), which produces hydrops fetalis syndrome. The genotype of the parents was --SEA/alphaalpha.

[Rapid diagnosis of Down's syndrome by multiplex real-time fluorescence relative quantitative PCR].

To establish a multiplex real-time fluorescence relative quantitative PCR method for diagnosis of Down's syndrome. The fragment from Down's syndrome critical region gene 3 (DSCR3) on chromosome 21 was used as the target gene, and the glyceraldehyde-3-phosphate dehydrogenase (GAPDH) gene on chromosome 12 was used as the control gene. The two genes were amplified in the same tube.

[Improvement of gene analysis method in hemophilia A and its application of prenatal diagnosis].

Objective: To establish a simple and rapid system for carrier detection and prenatal diagnosis in hemophilia A (CHA) family.

Methods: Long distance-polymerase chain reaction (LD-PCR) was selected for detection factor VIII intron 22 inversion. Polymorphism of factor VIII intragenic restriction fragment length polymorphism (RFLP) of Xba I and Hin d III, short tandem repeat (STR) within intron 13 and 22, as well as extragenic DXS52 (ST 14) variable number of tandem repeat (VNTR) were assayed by PCR and linkage analysis.

[Detection of alpha thalassemia using real-time PCR and dissociation curve analysis].

Objective: To establish an automatic, high throughput, quick detection method of alpha thalassemia.

Methods: The genotypes of -alpha(4.2) and -alpha(3.

[A study on the (CA)n in FVIII gene in Han ethnic group in Guangxi Zhuang Autonomous Region by amplification polymorphisms combined with silver staining].

Objective: Hemophilia A is an inherited bleeding disorder caused by defects in factor VIII (FVIII) gene. In the present study, the frequencies of the microsatellite alleles at introns 13 and 22 in the factor VIII gene were analyzed in the group of Han nationality in Guangxi Zhuang Autonomous Region to explore their diagnostic value for hemophilia A. These two sites were also used to detect the carriers in 13 hemophilia A families.

[Analysis of X ba I polymorphism of FVIII gene and its application on prenatal diagnosis for hemophilia A].

Objective: To establish the linkage methods of X ba I polymorphisms specific for FVIII gene intron 22, and to find a rapid and simple system for haemophilia A (HA) carrier detection and prenatal diagnosis.

Methods: A long PCR to amplify FVIII gene intron 22 followed by X ba I digestion was used to assay the gene rate and heterozygosity rate of 206 unrelated people. Detection of intron 22 inversion by long distance PCR (LD-PCR) and XbaI, BclI, Hind III, DXS52, STR polymorphism within intron 13 and 22 by hereditary linkage analysis were assays in 20 HA pedigrees.

[High-level expression of phenylalanine ammonia-lyase in Lactococcus Lactis via synthesized sequence based on bias codons].

To construct a safer and more efficient gene engineering Lactococcus Lactis for expressing phenylalaine ammonia lyase (PAL) which will be benefit for PKU therapy, pal cDNA of Parsly and synthesized sequence based on Lactococcus Lactis bias codons were recombined into two Lactococcus Lactis NICE systems. The activities of the expressed PAL were detected, and the effect of Lactococcus Lactis bias codons on the expression of exterior protein was analyzed. The results showed that the expression level of PAL was increased by using Lactococcus Lactis bias codons in both Lactococcus Lactis NICE systems.

[Fifteen short tandem repeat polymorphisms in Han race of North China].

Objective: To research on the genetic polymorphism distributions of 15 short tandem repeat (STR) loci in Han race of North China and the genetic data of population genetics.

Methods: The capillary electrophoresis and five-color fluorescent multi-amplifying were applied to detect the genotypes of 15 STR loci in 597 unrelated Chinese Han individuals.

Results: No significant deviation from the Hardy-Weinberg Equilibrium was observed.

[Detection of gene expression alteration of myeloma cells treated with arsenic trioxide].

Objective: To investigate the effect of arsenic trioxide on multiple myeloma (MM) cell gene expression and explore the molecular mechanism of arsenic trioxide therapy for MM.

Methods: U266 cells were divided into two groups, group A as control group and group B as test group. Cells were cultured for 48 hours, and total RNA and mRNA were extracted.

[Study on genetic diagnosis and prenatal diagnosis of alpha-thalassemia].

Objective: To develop a single-tube multiplex polymerase chain reaction (mPCR) technique to detect three common deletional alpha-thalassemias (alpha-Thal) in Chinese, and to perform genetic diagnosis and prenatal diagnosis for an alpha-Thal family from Hebei province, China.

Methods: Fourty-two blood samples including samples from one alpha-Thal family from Hebei province were assayed. The mPCR containing 7 primers, gel electrophoresis and DNA sequencing were used for the genetic diagnosis and prenatal diagnosis.

[Genetic polymorphisms of five STR loci on chromosome 21 in Chinese Han population].

To elucidate the genetic polymorphisms of five STR loci on chromosome 21 in Chinese Han population and construct a preliminary database, EDTA-blood specimens were collected from unrelated individuals in Beijing. The DNAs were extracted with Chelex method and were amplified by PCR. The PCR products were analyzed by the PAG electrophoresis or by the approach of the automated fluorescent detection.

[Application of fetal DNA in maternal plasma for non-invasive prenatal diagnosis of fetal sex].

To investigate the feasibility and possibility of application of fetal DNA from maternal plasma for noninvasive prenatal diagnosis of fetal sex, plasma DNAs in blood samples of 73 pregnant women at the gestational period of 26 to 41 weeks were extracted by column separation and nested polymerase chain reaction were employed to amplify the SRY gene. A comparison was made between the amplification results and the real sex of the fetus after their delivery. The concordance rate of SRY gene amplification results of plasma free DNA with real fetal sex was 91.