Objective To systemically evaluate the quality of randomized controlled trials(RCTs) of recurrent oral ulcer(ROU) treated by traditional Chinese medicine.Methods The randomized controlled trials of TCM treatment on ROU were retrieved,and the related information from database was retrieved and assessed with Cochrane Handbook.Results Fifty-three articles in 41 journals were found.There were 12 diagnostic criteria and 8 effect criteria.Base-line comparision in 39 articles,blind methods in 3 articles,follow-up survey in 2 articles,adverse reaction in 10 articles,no case loss in all articles were reported.Conclusions The quality of RCTs of TCM for ROU should be improved.

OBJECTIVE:To investigate the feasibility,safety and efficacy of domestic small waist big edge-type occluder for patients with multiple outlets sac-type membranous ventricular septal defection (VSD),and summarize its technical problems and the choice of treatment strategies.METHODS:A total of 20 patients with sac-type membranous VSD,underwent left ventricular angiography at left anterior oblique 45°-60° plus CAOD 20°-25°;the left ventricular entrance diameters were 7-21 (10.9±5.2) mm,more than 2 outlets in the right ventricular surfaces,and the largest outlet diameters were 3-10 (4.8±2.9) mm.According to the result from transthoracic echocardiography (TTE) and angiography,the sac-bag size,shape,location,extent of tissue adhesion,and stability were determined.Different types of small waist big edge-type occluder were implanted,and the occluder diameter was 5-14 (4.6±2.8) mm.Following 15 minutes of blocking,the immediate effects of occlusion were observed through repeating left ventricuiar angiography and TTE.All patients rechecked ultrasonic cardiography and electrocardiogram at 5-7 days of hospital stay,and 1,3,6 and 12 months following surgery.All patients took aspirin tablets for 6 months.RESULTS:Of 20 patients,17 cases underwent domestic small waist big edge occluder,blocked successfully through left ventricular entrance,2 cases were successful using symmetry block,and 1 case was failed.Intraoperative occlusion did not affect the aortic valve and tricuspid valve function.There were 1 case with left bundle branch block and 1 case with right bundle branch block during the operation,and all recovered within a week by using hormone therapy.After 6 months,the cardiac sizes were reduced to different degrees.CONCLUSION:It is safe and effective to treat multiple outlets sac-shaped membranous VSD with domestic small waist big edge-type occluder.The key technology,according to the sac size,shape,firmness,outlet orientation,import size,and the size of aortic stump,is to determine the block site and to select a suitable occluder.

OBJECTIVETo identify pathogenic mutations of ANTXR2 gene in a patient with juvenile hyaline fibromatosis.

METHODSGenomic DNA was extracted from peripheral venous blood sample from the patient. All coding exons (exons 1-17) and splicing sites of the ANTXR2 gene were amplified with PCR. Potential mutations were detected with direct sequencing of the PCR products. 100 unrelated healthy subjects were used as the controls. CLUSTALX (1.81) was employed to analyze cross-species conservation of the mutant amino acid. Impact of the mutations was analyzed with software including SIFT, PolyPhen-2 and MutationTaster.

RESULTSA compound heterozygous mutation c.1074delT/c.1153G>C, was identified, among which c.1153G>C has not been reported previously and was predicted to be probably damaging. Both mutations were not found among the 100 healthy controls.

CONCLUSIONThe patient's condition may be attributed to the compound heterozygous mutations of c.1074delT and c.1153G>C of the ANTXR2 gene. Above results has facilitated molecular diagnosis for this patient.

Child, Preschool ; Female ; Heterozygote ; Humans ; Hyalinosis, Systemic ; diagnosis ; genetics ; Mutation ; Receptors, Peptide ; genetics

OBJECTIVETo explore the integrative quantitative index of the extent of pneumoconiotic changes by dusts and to evaluate the extent of pulmonary injury by the dusts containing different contents of free silica.

METHODSIn accordance with the morphometric principle, the areas of each kind of pathologic changes in the lung tissue sections of pneumoconiosis model were measured by utilizing a computer-aided graphic analyzer, and the volume density of each pathologic change and the value of pulmonary injury by dust(VPID) were calculated. Meanwhile the extent of pulmonary injury were compared among the rat groups treated with the dusts containing different contents of free silica.

RESULTSThere were significant differences among each groups in the volume density of some pathologic changes in the same exposed periods. There were significant correlation between VPID and the content of free silica dust or the lung collagen content (r = 0.535-0.849, P < 0.005 or P < 0.01). Furthermore, the degree of cor relationship of VPID with both of the latter were higher than the sum of unweighted volume density of the various pathologic changes in lung.

CONCLUSIONIt is suitable, reasonable and simple to use VPID an index to indicate the extent of pulmonary injury by dust and to diagnose pneumoconiosis in pathology, and the extent of pulmonary injury by dust may be aggravated with the increasing of the content of free silica.

Animals ; Dust ; Lung ; pathology ; Pneumoconiosis ; pathology ; Rats ; Silicon Dioxide ; toxicity

OBJECTIVE: To explore the genetic etiology for a child with ocular dysplasia. METHODS: Clinical examination was carried out. Medical history of the child was collected. Genomic DNA was extracted from peripheral blood samples. Chromosomal microarray analysis (CMA) was used to detect potential genomic copy number variations. RESULTS: Ultrasonography revealed cataracts in both eyes of the child. MRI showed increased extracranial space, supratentorial ventricular dilatation, reduced white matter volume, increased T2WI signal and a large occipital cisterna. CMA showed that the patient carried a 249 kb microdeletion at Xq25q26.1 region, namely [hg19]arrXq25q26.1 (128 652 372 - 128 901 629)×0. CONCLUSION The child was diagnosed with Lowe syndrome, for which the 249 kb microdeletion at Xq25q26.1 is probably accountable.
Child ; Chromosome Aberrations ; DNA Copy Number Variations ; Humans ; Microarray Analysis ; Oculocerebrorenal Syndrome

OBJECTIVETo assess the value of chromosome microarray analysis (CMA) for identifying the etiology of patients with congenital cleft lip and palate.

METHODSTwenty-two patients with no identifiable chromosomal aberrations by conventional cytogenetic technique were selected. DNA was extracted and hybridized with Affymetrix CytoScan(TM) HD arrays following the manufacturer's protocol. The data were analyzed with a CHAS v2.0 software.

RESULTSCMA analysis has identified submicroscopic copy number variants (CNVs) in all of the cases, which have ranged from 100 kb to 1.8 Mb. Potential pathogenic CNVs were identified in 5 patients (22.7%), which involved microdeletions and microduplications on 8p23.1, 10q22.2-q22.3, 6q26, 20p12.1 and 18q12.3. MYST4, MACROD2 and SOX7 genes are likely the causative genes.

CONCLUSIONCMA is an effective method for identification of etiology in patients with cleft lip and palate. CMA should be provided for patients with cleft lip and palate but a normal karyotype. Especially for those with additional structural abnormalities, there is a high risk for submicroscopic chromosomal aberrations.

Child ; Child, Preschool ; Chromosome Aberrations ; Chromosome Disorders ; diagnosis ; genetics ; Cleft Lip ; diagnosis ; genetics ; Cleft Palate ; diagnosis ; genetics ; DNA Copy Number Variations ; Female ; Humans ; Infant ; Male ; Microarray Analysis

OBJECTIVETo explore the genetic etiology of fetuses with multicystic dysplastic kidney (MCDK) by chromosome microarray analysis (CMA).

METHODSSeventy-two fetuses with MCDK were analyzed with conventional cytogenetic technique, among which 30 fetuses with a normal karyotype were subjected to CMA analysis with Affymetrix CytoScan HD arrays by following the manufacturer's protocol. The data was analyzed with ChAS software.

RESULTSConventional cytogenetic technique has revealed three fetuses (4.2%) with identifiable chromosomal aberrations. CMA analysis has detected pathogenic CNVs in 5 fetuses (16.7%), which included two well-known microdeletion or microduplication syndromes, i.e., 17q12 microdeletion syndrome and Williams-Beuren syndrome (WBS) and three submicroscopic imbalances at 4q35.2, 22q13.33, and 1p33. PEX26, FKBP6, TUBGCP6, ALG12, and CYP4A11 are likely the causative genes.

CONCLUSIONCMA can identify the submicroscopic imbalances unidentifiable by conventional cytogenetic technique, and therefore has a significant role in prenatal diagnosis and genetic counseling. The detection rate of pathogenic CNVs in fetuses with MCDK was 16.7% by CMA. 17q12 microdeletion syndrome and WBS are associated with MCDK. Mutations of PEX26, FKBP6, TUBGCP6, ALG12, and CYP4A11 genes may be the causes for MCDK.

Adult ; Chromosomes ; genetics ; Female ; Fetus ; Humans ; Male ; Microarray Analysis ; methods ; Multicystic Dysplastic Kidney ; genetics ; Pregnancy ; Prenatal Diagnosis ; methods ; Young Adult

OBJECTIVETo analyze patients with skeletal anomalies (SA) but a normal karyotype using chromosome microarray analysis (CMA).

METHODSFrom June 2012 to May 2015, 43 children found to have skeletal anomalies with or without other abnormalities were subjected to karyotyping analysis. For those with a normal karyotype, DNA was extracted and hybridized with Affymetrix CytoScan 750 kb arrays following the manufacturer's protocol. The results were analyzed with CHAS v2.0 software.

RESULTSTwo patients (4.65%) were detected with an abnormal karyotype. The remaining 41 patients with a normal karyotype were classified into 3 groups: isolated SA (n=17), SA with mental retardation (n=6), and SA with other structural anomalies (n=18). Clinically significant copy number variations (CNVs) were found in 21.95% (9/41) of the cases, which included 17.65% (3/17) with isolated SA, 33.33% (2/6) with SA and mental retardation, and 22.22% (4/18) of SA with other structural deformities.

CONCLUSIONWhole-genome CMA can detect clinically significant CNVs which may not be found by conventional karyotyping analysis and increase the detection rate by approximately 21.95%. It may be recommended for patients with SA but a normal karyotype.

Bone and Bones ; abnormalities ; Child ; Child, Preschool ; Chromosome Aberrations ; DNA Copy Number Variations ; Humans ; Infant ; Infant, Newborn ; Karyotype ; Oligonucleotide Array Sequence Analysis

OBJECTIVETo explore the genetic etiology for fetuses with increased nuchal translucency (NT) but a normal karyotype at whole genome level by chromosome microarray analysis (CMA).

METHODSSeventy-eight fetuses with increased NT (≥ 3.0 mm) but a normal karyotype were collected between 11(+0) and 13(+6) gestational weeks. Genomic DNA was extracted, and microarray testing was performed using Affymetrix CytoScan(TM) HD arrays. The data was analyzed by CHAS software. All detected copy number variations (CNVs) were confirmed with real-time quantitative polymerase chain reaction.

RESULTSThe CMA assay has detected pathogenic CNVs in 6 fetuses (7.69%), which have ranged from 0.41 Mb to 15.87 Mb. Well-known microdeletion or microduplication syndromes including Wolf-Hirschhorn syndrome, 22q11 microdeletion syndrome and ATR-16 syndrome were identified in three cases. The detection rates in fetuses with or without structural abnormalities were 18.18% and 5.97%, respectively (P=0.198 with Fisher's Exact Test). The average NT in fetuses with pathogenic CNVs and non-pathogenic CNVs has measured 4.48 mm and 4.22 mm (P=0.735 by Mann-Whitney Test).

CONCLUSIONFor fetuses with increased NT, CMA can identify chromosomal microdeletion/microduplication unrecognizable by conventional karyotyping analysis. It may therefore play an important role in prenatal diagnosis and genetic counseling by improving the diagnostic rate.

Adult ; Chromosome Aberrations ; Chromosome Disorders ; diagnosis ; diagnostic imaging ; genetics ; Female ; Fetal Diseases ; diagnosis ; diagnostic imaging ; genetics ; Humans ; Karyotype ; Karyotyping ; Nuchal Translucency Measurement ; Oligonucleotide Array Sequence Analysis ; Pregnancy ; Prenatal Diagnosis

OBJECTIVE: To explore the genetic basis for a fetus with structural brain abnormalities. METHODS: The karyotypes of the fetus and its parents were analyzed by conventional G-banding. Chromosome microarray analysis (CMA) was carried out to detect chromosomal microdeletion and microduplication. RESULTS: No kartotypic abnormality was detected in the fetus and its parents. CMA has identified a 194 kb microduplication at Xq25 in the fetus, which encompassed exons 4-35 of the STAG2 gene and was derived from its mother. CONCLUSION The Xq25 duplication encompassing part of the STAG2 gene probably underlay the brain malformation in the fetus.
Chromosome Banding ; Female ; Fetus ; Genetic Testing ; Humans ; Karyotyping ; Pregnancy ; Prenatal Diagnosis