Analysis on the safety of ophthalmic artery cannulation for intra-arterial chemotherapy in 42 patients with intraocular stage retinoblastoma / 中华儿科杂志

<p><b>OBJECTIVE</b>To investigate the safety of treatment with ophthalmic artery cannulation for intra-arterial chemotherapy (IAC) for children with intraocular retinoblastoma (RB).</p><p><b>METHOD</b>In the RB Treatment Center of General Hospital of Armed Police Forces between January 2009 and September 2011, 42 patients who were diagnosed intraocular RB and treated with ophthalmic artery cannulation for IAC, 8 patients were treated 1 circle, 31 patients were treated 2 circles and 3 patients were treated 3 circles (total, 96 times). Each month had IAC once. The ophthalmic and the whole body evaluations were performed during IAC and after IAC for each circle, the blood cell count, alanine aminotransferase (ALT), serum creatinine (Scr), CK-MB content before and after IAC for 1 circle, 2 circles and 3 circles were determined.</p><p><b>RESULT</b>(1) In 52 eyes of 42 patients, 44 eyes (84.6%) were in remission. (2) Successful IAC was achieved in all cases, no severe side effects occurred during IAC. (3) The main ophthalmic complications were eyelid edema and blepharoptosis after IAC, the incidence for 1 circle was 18% (2/11) and 9% (1/11); for 2 circles was 29% (11/38) and 21% (8/38); for 3 circles was all 100% (3/3). The rare complications were vitreous hemorrhage and heterotropia, the incidence was all 2% (1/42). The incidence of eyelid edema and blepharoptosis had no significant differences for 1 circle IAC compared with 2 circles (P > 0.05); the incidence of eyelid edema and blepharoptosis had significant differences for 3 circles IAC compared with 2 circles and 1 circle (P < 0.01). (4) No fever, septicemia and other systemic toxic effects occurred. (5) ALT of 19% patients (8/42) elevated temporarily and CK-MB of 24% patients (10/42) increased. The blood cell counts, ALT, Scr, and CK-MB content before IAC had no significant differences compared with that at 24 h after IAC for 1 circle, 2 circles and 3 circles (P > 0.05).</p><p><b>CONCLUSION</b>Ophthalmic artery cannulation for IAC is a safe and effective method in treating intraocular stage retinoblastoma.</p>

Development and application of X-chromosomal STR multiplex amplification system / 法医学杂志

OBJECTIVE@#To explore the application of X-chromosomal STR(X-STR) for forensic identification and paternity testing.@*METHODS@#Six X-STR loci DXS6801, DXS9902, DXS6809, DXS6803, DXS6804 and DXS6799 were amplified in a single PCR reaction. PCR products were analyzed using capillary electrophoresis and 3100 Genetic Analyzer and GeneMapper ID v3.1 Analysis Software.@*RESULTS@#The alleles of all six X-STR loci were successfully obtained with unambiguous genotyping, high sensitivity and reproducibility.@*CONCLUSION@#The multiplex PCR of six X-STR loci is useful in forensic identification, particularly for sisters cases.

Characteristics of IGF-II gene imprinting in twin placentas / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To compare insulin-like growth factor II (IGF-II) gene imprinting in twin placentas with singleton ones and to determine whether imprinting was influenced by assisted reproductive technology, zygosity and fetal sex.</p><p><b>METHODS</b>One hundred and sixty cases of twin placentas and 42 cases of singleton ones were recruited. Allele-specific IGF-II expression was determined by reverse transcription-PCR combined with analysis of an Apa I-sensitive restriction fragment length polymorphism.</p><p><b>RESULTS</b>Although the incidence of IGF-II imprinting loss was higher in normal twin placentas than in singleton ones (20.6% vs 8.7%), there was no statistical significance. There were no significant differences between twins conceived by assisted reproductive technology and those conceived spontaneously (17.9% vs 24.4%), and between dizygotic and monozygotic twins (22.4% vs 16.7%). The incidence of IGF-II imprinting loss in placenta of female twins was statistically higher than that of male ones (26.4% vs 9.8%).</p><p><b>CONCLUSION</b>The risk of IGF-II gene imprinting loss is higher in female twins and has no relationship with assisted reproductive technology and zygosity.</p>

Haplotypes of DXS10011 and DXS8377 in Guangdong Han individuals / 法医学杂志

OBJECTIVE@#To investigate genetic polymorphism of two X chromosome specific STR: DXS10011 and DXS8377 in male samples from Guangdong Han population.@*METHODS@#The DNA samples were amplified by PCR and analyzed by polyacrylamide gel electrophoresis followed by silver staining.@*RESULTS@#Among 113 samples, 20 alleles were found for DXS1011 and 12 alleles for DXS8377. Also, 72 DXS10011-DXS8377 haplotypes were shown. The most common haplotypes only occurred three times. When only female children were tested in motherless case, the exclusion probability of paternity was 0.9588 for DXS10011-DXS8377 haplotypes. Investigations in 83 family trios with female children and 29 pedigrees with two children suggested a co-dominant X-linked inheritance; mutations were not found.@*CONCLUSION@#Our data indicate that DXS10011 and DXS8377 are highly informative X chromosome markers for complicated kinship analysis.

Impact of Age and Vascular Endothelial Function on Arterial Stiffness in Isolated Systolic Hypertersion / 中华高血压杂志

Objective To investigate the impact of aging and vascular endothelial function on arterial stiff- ness in patients with isolated systolic hypertension.Methods Patients with isolated systolic hypertension (ISH,n=75)age-matched healthy subjects(n=30)and young healthy subjects(n=50)were submitted to deter- mination of aortic pulse wave velocity(baPWV)and vascular endothelial function evaluated by flow-mediated dila- tion(FMD).Results baPWV was progresively decreased(ISH:2459.2?436.8 vs elderly healthy:2097.2? 315.7 vs young healthy:1619.7?214.2 cm/s,P

Diversity of paternity index with different allele frequencies / 法医学杂志

OBJECTIVE@#To evaluate the diversity of combined paternity index (CPI) of multiple STR loci when different population allele frequencies was used to calculate the paternity index.@*METHODS@#CPI of 13 CODIS (combined DNA index system) loci for 108 trio cases and 108 duo cases selected randomly were calculated by using five Chinese Han population allele frequencies, respectively.@*RESULTS@#The CPI range for trio cases and duo cases were 2077.63-50897711626.46 and 25.12-2998685141, respectively. When different population allele frequencies were applied to the same case, the ratio of maximum CPI and minimum CPI, which was more than 100, for trio cases and duo cases were 20 cases (19.52%) and 13 cases (12.04%), respectively.@*CONCLUSION@#The variation of CPI value of the CODIS loci was obvious with different allele frequencies. To prevent the error causing by uncertain allele frequencies, a conservative CPI value should be calculated in paternity testing.

Detecting haplotypes of four Y-STR by multiplex amplification / 法医学杂志

OBJECTIVE@#To establish a multiplexing Y-STR system and study haplotype frequencies of 4 Y-specific loci in China Han population.@*METHODS@#DYS439, DYS390, GATA-A7.2 and DYS393 loci were amplified simultaneously and were analyzed by polyacrylamide gel electrophoresis and silver staining.@*RESULTS@#When 558 unrelated male individuals from the Han population in China were tested by the multiplex system, DYS439, DYS390, GATA-A7.2 and DYS393 show 7,7,7,6 alleles, respectively. 180 different haplotypes were detected. The power of discrimination of this system was 0.9853.@*CONCLUSION@#The multiplex amplified system of these 4 Y-specific loci and their database are useful for human origin exploration and forensic practice.

Polymorphism and multiplex amplification of 3 X-chromosome specific short tandem repeat loci / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To devise a multiplex PCR system of three X-chromosome specific short tandem repeat (X-STR) loci and study the genetic polymorphism.</p><p><b>METHODS</b>DXS6799, DXS6804 and DXS6854 were amplified simultaneously using a multiplex system and were typed by polyacrylamide gel electrophoresis and silver staining.</p><p><b>RESULTS</b>A total of 262 male and 255 female individuals from Guangdong Han population were tested; each locus showed 7 alleles. 73 haplotypes were detected in the male individuals. The haplotype diversity reached 0.9674.</p><p><b>CONCLUSION</b>The 3 X-STR multiplex system is relatively abundant in polymorphic information for forensic identification and paternity testing.</p>

Seven Y-specific loci haplotypes and their usefulness in forensic casework / 法医学杂志

OBJECTIVE@#To study genetic polymorphism of 7 Y-specific short tandem repeats (STR) and assess their usefulness in forensic casework.@*METHODS@#7 Y-STR have been amplified in two multiplex reactions, (Multiplex I:DYS391, GATA-A4, GATA-A10 and GATA-H4. Multiplex II:DYS439,DYS437 and DYS434). PCR products were separated by polyacrylamide gels electrophoresis followed by silver stain.@*RESULTS@#When 372 unrelated individuals from the Han population in Guangdong were detected by those system, DYS391, GATA-A4, GATA-A10, GATA-H4,DYS439,DYS437 and DYS434 showed 5,7,6,5,6,4,4 alleles, respectively. A total of 254 different haplotypes were identified, of which 201 (79.13%) were found in single individuals. The overall haplotypes diversity reached 0.9960.@*CONCLUSION@#The 7 Y-STR loci are highly genetic polymorphism and they will be very powerful for establishing Y-STR database, understanding human origin, paternity testing and personal identification.

Polymorphism of PentaD and PentaE STR locus in five Chinese Han population / 法医学杂志

OBJECTIVE@#To obtain the genetic polymorphism data of Guangxi, Hunan, Henan, Sichuan, Taiwang Chinese Han population and compare the polymorphism of PentaD and PentaE STR locus.@*METHODS@#The two loci was analyzed by using the PowerPlex 16 System.@*RESULTS@#10 alleles of PentaD and 19 alleles of PentaE were found in the five Han population. PentaD and PentaE have the expected heterozygosity values of 0.7746-0.8047 and 0.9005-0.9219, the polymorphism information content values of 0.7710-0.8025 and 0.8969-0.9176, the discrimination power values of 0.9223-0.9341 and 0.9471-0.9782, the power of exclusion values of 0.5435-0.6325 and 0.6785-0.8465, respectively.@*CONCLUSION@#The result showed that these two loci were highly informative and suitable for forensic application.

Cantonese population data of the tetranucleotide repeat locus D7S809 and its application in paternity test / 法医学杂志

The tetranucleotide repeat locus D7S809 was investigated in Cantonese population by polymerase chain reaction (PCR) amplification, subsequent polyacryramide gel electrophoresis and silver staining. 14 alleles and 50 genotypes were detected in 190 sample individuals. All alleles differed in size by 4 bp repeat. No interalleles were found. The heterozygosity, power of discrimination and chance of non-paternal exclusion were 0.8613, 0.9645 and 0.7184 respectively. No significant deviations from Hardy-Weinberg equilibrium were found. The D7S809 was a highly polymorphic, stable and accurate type locus and had been successfully applied to 100 paternity test cases.