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View Article and Find Full Text PDFBackground: miRNA expression profiles in ectopic endometrium (EC) serving as pathophysiologic genetic fingerprints contribute to determining endometriosis progression; however, the underlying molecular mechanisms remain unknown.
Methods: miRNA microarray analysis was used to determine the expression profiling of EC fresh tissues. qRT-PCR was performed to screen miR-205-5p expression in EC tissues.
Background: Complex chromosomal rearrangements and chromosomal deletion and duplication syndromes are commonly associated with abnormal clinical phenotypes. The 2q31.1 microdeletion syndrome is a rare cytogenetic event that leads to limb and multi-internal organ anomalies.
View Article and Find Full Text PDFZhonghua Yi Xue Yi Chuan Xue Za Zhi
August 2012
Objective: To screen for genetic mutations in families featuring non-syndromic hearing loss.
Methods: Sixteen families with non-syndromic hearing loss were interviewed to identify medical histories by a questionnaire. Audiological and neurological examinations were conducted for all families.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
June 2012
Objective: To detect genetic causes of Duchenne muscular dystrophy (DMD).
Methods: Next-generation sequencing was used to detect 6 DMD patients in whom no exonic deletions were detected by multiplex PCR. Sanger sequencing and multiplex ligation-dependent probe amplification were used to confirm the results.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
August 2011
Objective: To investigate the mutation frequency in 7 mutation hot-spots of deafness gene in southern Jiangsu province and verify the performance of the SNaPshot technology platform, designed for genetic screening of non-syndromic hearing loss (NSHL) in Chinese.
Methods: One hundred and twenty-five NSHL patients were enrolled. Amplification of 235delC, 299-300delAT in GJB2 gene, IVS7-2A>G, 2168 A>G in SLC26A4 gene, and 1555A>G, 7445 A>G and 3243 A>G in mitochondrial DNA (mtDNA) was performed using multiplex polymerase chain reaction (PCR) technology.
Objective: To detect 22q11 microdeletion in the children and fetuses affected by congenital heart defects.
Method: MLPA P250 kit was used to detect 22q11 microdeletion in 100 cases of sporadic congenital heart defects including 40 fetuses and 60 patients diagnosed by ultrasound.
Result: Two cases from the fetuses and 1 case from the patients were found to have 22q11 microdeletion.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
October 2010
Objective: To establish an assay for screening chromosome 22q11 microdeletion efficiently, and apply it for detecting del22q11 in patients with non-syndromic congenital heart defects (CHD).
Methods: Seventy nine patients with non-syndromic CHD and 84 normal controls were genotyped for 8 short tandem repeat (STR) markers located in 22q11 region, by using quantitative fluorescence polymerase chain reaction (QF-PCR).
Results: The average heterozygosity of the STR markers in patients and controls was 0.
Zhongguo Yi Liao Qi Xie Za Zhi
March 2009
The illuminance characteristics of LED (Lighting Emitting Diode) Surgical Luminaire is researched in this paper from the aspects of the LED Single-tube illumination analysis, LED arrays distribution and lighting design. The facula distribution characteristics of the LED prototype and multi-facet entirety reflection Surgical Luminaire is tested and compared according to the standards. The results of experimental show that LED prototype can fully meet the surgical illumination requirements, and the LED's own characteristics and further development will greatly broaden the space of medical lighting.
View Article and Find Full Text PDFWorld J Gastroenterol
October 2004
Aim: To study the plasma des-gamma-carboxy protein C activity, antigen and prothrombin levels in patients with liver diseases and their clinical significance.
Methods: Plasma protein C activity (PC:C) was detected by chromogenic assay and antigen (PC:Ag) and des-gamma-carboxy protein C (DCPC) were detected by ELISA. Total prothrombin and unabsorbed prothrombin in plasma were detected by ecarin chromogenic assay.