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1.
Chinese Journal of School Health ; (12): 190-194, 2021.
Article in Chinese | WPRIM | ID: wpr-873635

ABSTRACT

Objective@#To investigate the prevalence of myopia and sleep quality among adolescents in Baoshan District of Shanghai, and to further analyze the association between different degree of myopia on sleep quality.@*Methods@#A total of 777 adolescents aged 9-16 years were selected by stratified cluster random method, and ophthalmology examination and Pittsburgh Sleep Quality Index (PSQI) Chinese version scale and related factors questionnaire were conducted.@*Results@#The prevalence rates of myopia and sleep disorders were 68.08% and 13.77% respectively in Baoshan District of Shanghai. With the increase of age and grade, the prevalence of myopia and sleep disorder increased(χ 2=139.58, 114.17;58.00, 56.41, P<0.01).There were significant differences in sleep disorders among different degree of myopia groups (χ 2=24.57,P<0.01), including sleep time, progressive function and PSQI total score were statistically significant (F=9.65, 7.22, 4.38, P<0.01). Logistic regression analysis showed that moderate to high and high myopia were risk factors for sleep quality of adolescents (β=0.87, 0.95, OR=2.38, 2.59, P<0.05).@*Conclusion@#The prevalence of myopia and sleep disorder among adolescents in Baoshan District of Shanghai is high, myopia shows impacts on sleep quality of adolescents at a certain level. Adolescents with high myopia have a higher risk of sleep disorders.

2.
Article in Chinese | WPRIM | ID: wpr-885339

ABSTRACT

Objective:To investigate the frequency and severity of systemic adverse reactions in children with allergic rhinitis (AR) undergoing subcutaneous immunotherapy (SCIT).Methods:The clinical data of 321 children with allergic rhinitis receiving SCIT at Department of Otorhinolaryngology, Changzhou Third People′s Hospital from January 2016 to January 2020 were retrospectively analyzed. There were 180 boys and 141 girls aged 5 to 14 years. Patients were injected subcutaneously with standardized dust mites allergen extract. The onset time, symptoms and signs and treatment of adverse reactions were documented. The relationship of adverse reactions with gender, age, treatment course and dosage of allergen injection were analyzed.Results:Patients received total 13 053 injections, and 115 adverse reactions (0.88%) occurred in 56 cases (17.45%). The incidence of adverse reactions in children aged 5-9 years was higher than in those aged 10-14 years, for both the number of cases and injections (χ2=4.41, P=0.04; χ2=9.13, P<0.01), but no significant differences were observed in gender of patients. The incidence of adverse reactions in the age group 2-3 years was lower than that in age groups<1 year and 1-<2 years in both of cases and injections (χ2=22.86, P<0.01; χ2=6.43, P=0.01; χ2=12.14, P<0.01; χ2=13.74, P<0.01). The incidence of adverse reactions in the high-dosage phase (100 000 SQ-U) was higher than that in the low-dosage phase (<100 000 SQ-U) (χ2=4.35, P=0.04). Conclusions:The study shows that the incidence of adverse reactions in children with allergic rhinitis receiving subcutaneous immunotherapy is less than 1% in the number of injections and most of them are grade Ⅰ adverse reactions. The study also shows that younger age, the early course of treatment and the high dosage of allergens are risk factors for adverse reactions.

3.
Article in Chinese | WPRIM | ID: wpr-879555

ABSTRACT

OBJECTIVE@#To assess the value of chromosomal microarray analysis (CMA) for fetal duodenal obstruction (DO).@*METHODS@#Fifty-one fetuses with DO identified by prenatal ultrasound were divided into DO only group and DO with other anomaly group. CMA was carried out on amniotic fluid or umbilical blood samples, and the outcome of pregnancy of all cases were followed up.@*RESULTS@#Eight fetuses (15.7%) were found with genomic abnormalities, which included 3 chromosomal aneuploidies and 5 copy number variations (CNVs), including one 17q12 microduplication syndrome, one 13q21.33q31.1 microdeletion, one 13q21.32q22.3 deletion, one 13q21.2q31.1 deletion and one 1q43q44 duplication. EDNRB from 13q and HNF1B from 17q12 are candidate genes for fetal DO. No significant difference was found in the detection rate of pathogenic CNVs between the DO only and DO with other anomaly groups (9.5% vs.11.1%, P> 0.05). There were 39 live borns, 1 stillbirth, and 11 artificial abortions (8 with abnormal CMA results).@*CONCLUSION@#There is a correlation between fetal DO and abnormal copy number of the genome, for which prenatal diagnosis is necessary. CMA not only can detect microdeletions/microduplications, but also identify pathogenic genes, which can facilitate prenatal diagnosis, genetic counseling and prognosis for the fetus.


Subject(s)
Chromosome Aberrations , DNA Copy Number Variations , Duodenal Obstruction/genetics , Female , Fetus , Humans , Microarray Analysis , Pregnancy , Prenatal Diagnosis
4.
Article in Chinese | WPRIM | ID: wpr-912157

ABSTRACT

Objective:To investigate the feasibility of magnetic anchor technique for endoscopic submucosal dissection (ESD) in the treatment of early esophageal cancer.Methods:A self-designed magnetic anchoring device (including an anchor magnet and a target magnet) was used to perform ESD on the hypothesized esophageal lesion mucosa of six isolated esophagus of Beagle dogs. The feasibility and convenience of the operation was evaluated.Results:ESD of 6 isolated esophagus of dogs was successfully completed. Through adjusting the position of anchor magnet, the pulling direction and force of the target magnet on the mucosa could be flexibly controlled, the mucosal peeling surface was fully exposed, and tissue tension was provided to ensure the smooth removal of the diseased mucosa. The entire operation was smooth, and the target magnet was conveniently retained. No target magnet slippage or mucosal laceration occurred during the operation.Conclusion:The magnetic anchor technique is safe and feasible for the ESD, effectively pulling the diseased mucosa in treatment of early esophageal cancer, which can greatly improve the endoscopic operation experience.

5.
Article in Chinese | WPRIM | ID: wpr-910158

ABSTRACT

Objective:To evaluate the value of whole exome sequencing (WES) in prenatal clinical application.Methods:A total of 1 152 cases of congenital abnormal [including structural malformation, nuchal translucency (NT) thickening and intrauterine growth restriction] with traditional prenatal diagnosis [including G-band karyotype analysis and chromosome microarray analysis (CMA)] negative were analyzed. The congenital abnormal fetuses were divided into retrospective group and prospective group according to the time of WES detection, that is whether the pregnancy termination or not. According to the specific location of fetal malformation and their family history, the cohort was divided into subgroups. The clinical prognosis of all fetuses were followed up, and the effect of WES test results on pregnancy decision-making and clinical intervention were analyzed. According to the follow-up results, the data of fetuses with new phenotypes in the third trimester or after birth were re-analyzed.Results:Among 1 152 families who received WES, 5 families were excluded because of nonbiological parents. Among the remaining 1 147 families, 152 fetuses obtained positive diagnosis (13.3%,152/1 147), including 74 fetuses in the retrospective group (16.1%,74/460) and 78 fetuses in the prospective group (11.4%,78/687). In fetuses with negative CMA and G-band karyotype analysis results but new phenotypes in the third trimester or after birth, the positive rate by WES data re-analysis was 4.9% (8/163). A total of 34 (21.3%, 34/160) fetuses were directly affected by the corresponding positive molecular diagnosis. Among 68 cases of live births with diagnostic variation grade 4, 29 cases (42.7%, 29/68) received appropriate medical intervention through rapid review of WES results.Conclusions:WES could increase the detection rate of abnormal fetuses with negative G-banding karyotype analysis and CMA by 13.3%. Prenatal WES could guide pregnancy decision-making and early clinical intervention. It might be an effective strategy to pay attention to the special follow-up of the third trimester and postnatal fetus and to re-analyze the WES data.

6.
Article in Chinese | WPRIM | ID: wpr-921966

ABSTRACT

OBJECTIVE@#To investigate the application value of whole exome sequencing technology in fetuses with congenital structural abnormalities.@*METHODS@#The chromosomal abnormalities of 1147 families were analyzed. According to the follow-up results, the data of fetuses with new phenotypes in late pregnancy or after birth were reanalyzed. Subgroups were divided according to the organs involved and whether single malformation or not. The gene regulatory network map was drawn by using string database and Cytoscape software. Fisher exact probability method was used to compare the difference of the diagnostic rate of pathogenic genes among the groups.@*RESULTS@#A total of 160 fetal cases received positive molecular diagnosed, involving 178 variant sites of 125 pathogenic genes, including 8 cases (4.9%, 8/163) by data reanalysis, and the overall positive diagnosis rate was 13.9%. Diagnostic rate was highest in the group of skeletal malformation (31.5%, 39/124) and lowest in that with thoracic malformation (0, 0/32). The gene clusters of fetal edema and intrauterine growth restriction were independent, and were not associated with the major structural malformations. The probability of each parent carrying the same recessive gene variant was 0.03 (39/1146) and 0.08 (4/53) with positive family history.@*CONCLUSION@#For fetuses with congenital structural abnormalities that are negative for conventional genetic tests, 13.9% of phenotypic associated pathogenic/likely pathogenic genetic variants can be detected by whole exome sequencing technology. Its application value for prenatal diagnosis varies in fetus with different organs involved. Reanalysis of sequencing data for cases with new phenotypes in late pregnancy or after birth can further improve the molecular diagnosis rate. Further investigations are needed to explore the related genetic mechanisms.


Subject(s)
Female , Fetal Diseases , Fetus/diagnostic imaging , Humans , Pregnancy , Prenatal Diagnosis , Technology , Ultrasonography, Prenatal , Whole Exome Sequencing
7.
Article in Chinese | WPRIM | ID: wpr-827996

ABSTRACT

To observe the efficacy of cinnamaldehyde on dextran sulfate sodium(DSS)-induced ulcerative colitis(UC) with Can-dida albicans(Ca) colonization and its effect on dectin-1/TLRs/NF-κB signaling pathway in mice. C57 BL/6 mice were randomly divided into normal group, DSS group, DSS+Ca group, cinnamaldehyde group and mesalazine group. Mice in DSS+Ca group were given Ca(1×10~8 CFU per mouse) through intragastrical administration for 4 consecutive days and then distilled water with 3.0% DSS for 7 consecutive days. In cinnamaldehyde group and mesalazine group, in addition to the induction method of the DSS+Ca group, mice were given 75 mg·kg~(-1) cinnamaldehyde and 200 mg·kg~(-1) mesalazine accompanied with 3.0% DSS for 7 consecutive days, respectively. Mice in normal group and DSS group were correspondingly administered with distilled water. The general conditions of the mice were observed daily, the diseased activity index(DAI) score was calculated, and fungal loads of feces were detected by plate method. The mice were sacrificed on day 12, colon length was measured, colon mucosa damage index(CMDI) score was calculated, and histopathological analysis was carried out by HE staining. Anti-saccharomces cerevisiae antibody(ASCA) and β-1,3-glucan in serum, and TNF-α, IL-1β, IL-6, IL-8, IL-10 in serum and colon tissue were detected by ELISA. The contents of β-1,3-glucan and macrophage infiltration in colon tissues were examined by immunofluorescence staining. The protein expressions of dectin-1, TLR2, TLR4 and NF-κB were detected by Western blot and immunohistochemistry staining. The results showed that cinnamaldehyde could significantly improve the general conditions of UC mice with Ca colonization, decrease DAI and histopathological scores, reduce intestinal mucosal congestion, erosion and colon shortening, decrease Ca load in mouse feces and tissues, down-regulate the contents of ASCA and β-1,3-glucan in serum, reduce the contents of TNF-α, IL-1β, IL-6, IL-8 and increase IL-10 in serum and colon tissues, inhibit macrophages infiltration and down-regulate the protein expression of dectin-1, TLR2, TLR4 and NF-κB in colon tissue. These results suggested that cinnamaldehyde had a therapeutic effect on UC mice with Ca colonization, which might be related to the inhibition of Ca proliferation, the regulation of dectin-1/TLRs/NF-κB signaling pathways and the coordination of the balance between pro-inflammatory and anti-inflammatory factors.


Subject(s)
Acrolein , Animals , Candida albicans , Colitis, Ulcerative , Colon , Dextran Sulfate , Disease Models, Animal , Lectins, C-Type , Mice , NF-kappa B , Signal Transduction
8.
Protein & Cell ; (12): 620-621, 2019.
Article in English | WPRIM | ID: wpr-757926

ABSTRACT

In the original publication, the label of Fig. 2C should be read as "GFAP/lectin/DAPI" not "DMP1/GFAP/lectin/DAPI".

9.
Protein & Cell ; (12): 298-309, 2018.
Article in English | WPRIM | ID: wpr-756940

ABSTRACT

The blood-brain barrier (BBB) is a tight boundary formed between endothelial cells and astrocytes, which separates and protects brain from most pathogens as well as neural toxins in circulation. However, detailed molecular players involved in formation of BBB are not completely known. Dentin matrix protein 1 (DMP1)-proteoglycan (PG), which is known to be involved in mineralization of bones and dentin, is also expressed in soft tissues including brain with unknown functions. In the present study, we reported that DMP1-PG was expressed in brain astrocytes and enriched in BBB units. The only glycosylation site of DMP1 is serine89 (S89) in the N-terminal domain of the protein in mouse. Mutant mice with DMP1 point mutations changing S89 to glycine (S89G), which completely eradicated glycosylation of the protein, demonstrated severe BBB disruption. Another breed of DMP1 mutant mice, which lacked the C-terminal domain of DMP1, manifested normal BBB function. The polarity of S89G-DMP1 astrocytes was disrupted and cell-cell adhesion was loosened. Through a battery of analyses, we found that DMP1 glycosylation was critically required for astrocyte maturation both in vitro and in vivo. S89G-DMP1 mutant astrocytes failed to express aquaporin 4 and had reduced laminin and ZO1 expression, which resulted in disruption of BBB. Interestingly, overexpression of wild-type DMP1-PG in mouse brain driven by the nestin promoter elevated laminin and ZO1 expression beyond wild type levels and could effectively resisted intravenous mannitol-induced BBB reversible opening. Taken together, our study not only revealed a novel element, i.e., DMP1-PG, that regulated BBB formation, but also assigned a new function to DMP1-PG.


Subject(s)
Animals , Astrocytes , Cell Biology , Metabolism , Blood-Brain Barrier , Cell Biology , Metabolism , Cells, Cultured , Extracellular Matrix Proteins , Genetics , Metabolism , Female , Glycosylation , Male , Mice , Proteoglycans , Metabolism , Reverse Transcriptase Polymerase Chain Reaction
10.
Article in Chinese | WPRIM | ID: wpr-775820

ABSTRACT

OBJECTIVE@#To explore the genetic etiology of fetuses with congenital anomalies of the kidney and urinary tract (CAKUT) by whole exome sequencing (WES).@*METHODS@#WES was performed on DNA extracted from cord blood samples of 26 fetuses with unexplained CAKUT with/without other structural anomalies. In the first 19 cases, sequencing was performed on fetal DNA only, and the turnaround time was 11-12 weeks. For the remaining 7 cases, the fetus and its parents were sequenced simultaneously, and the turnaround time was 8-9 weeks.@*RESULTS@#Of the 26 cases, pathogenic variants were identified in 4 (15.4%) cases, which respectively involved UMOD, NEK8, HNF1B, and BBS2 genes, and likely pathogenic variants were identified in 2 (7.7%) cases, which respectively involved HSPD1 and GRIN2B genes. Two of the 4 cases had other anomalies in addition to CAKUT. Thus, the detection rate was only 2/19 (10.5%) for isolated CAKUT and 4/7 (57.1%) for CAKUT with additional anomalies.@*CONCLUSION@#The application of WES as a prenatal diagnostic approach for CAKUT fetuses with or without other anomalies allowed early and accurate diagnosis and improved their clinical management.


Subject(s)
Exome , Female , Fetus , Humans , Kidney , Pathology , Pregnancy , Urinary Tract , Pathology , Urogenital Abnormalities , Genetics , Whole Exome Sequencing
11.
China Journal of Endoscopy ; (12): 106-108, 2018.
Article in Chinese | WPRIM | ID: wpr-702979

ABSTRACT

Objective?To observe the clinical effect of FURS combined with ultrasound guided all seeing needle treatment of low pole renal calculi.?Methods?From January 2016 to January 2017, 63 patients with low pole renal calculi were enrolled in this study. 16 patients with multiple stones and 47 cases with single stones were treated by FURS combined with ultrasound guided all seeing needle. We retrospectively analyzed all the patients clinical data, including the operation time, bleeding volume, stone clearance rate, the incidence of postoperative complications, then assess the safety and effectiveness of the surgical approach.?Results?The operation time was 30 ~ 60 min, the average time was 45 min, postoperative complications in 3 cases, 2 cases of pain; no blood transfusion; 2 cases of percutaneous nephrolithotomy. Postoperative hospital stay wad 2 ~ 3 d, an average of 2 d, postoperative residual stone in 3 cases, 2 weeks after the treatment of external lithotripsy, 1 case of stone clearance rate of 100.0%.?Conclusion?Retrograde FURS combined with ultrasound guided visual puncture for renal calculi is safe, effective and feasible.

12.
Modern Clinical Nursing ; (6): 53-56, 2018.
Article in Chinese | WPRIM | ID: wpr-698880

ABSTRACT

Objective To evaluate the effect of wireless wearable intelligent body temperature monitoring system on temperature monitoring of perioperative patients. Method The body temprature of 572 patients with abdoiminal surgery who hospitalized in our hospital from June 2017 to Juanuary 2018 was measured by mercury thermometers and wireless intelligent body temprature monitoring system four times a day for three days with toally 6864 times after surgery.The measured time and data by both ways were compared and its relativity were analyzed. Results The measured data by mercury thermometers and wireless intelligent body temprature monitoring system was compared with no statistical significance (P>0.05), but the time measured by wireless intelligent body temprature monitoring system was shorter (P<0.05). The measured data of two ways was postively related (r=0.962,P<0.05). Conclusions The measurement results by the wireless wearable intelligent body temperature monitoring system are the same as by mercury thermometers. The accuracy of the system is well validated, and it can improve the working efficiency of nurses.

13.
Article in Chinese | WPRIM | ID: wpr-692718

ABSTRACT

Objective To investigate the correlation between the level of presenilin-associated rhomboidlike protein (PARL) and the sperm motility,survival rate and deformity rate of sperm in workers exposed to aluminum.Methods A total of 162 male workers exposed to aluminum in a large aluminum enterprise in Guangxi were selected as the exposure group,and the 162 staff members of the service company were selected as the control group by matching the age and length of service.The concentration of aluminum in the working environment and the aluminum content in the blood and urine were determined by graphite furnace atomic absorption spectrometry and high performance liquid chromatography.Enzyme linked immunosorbent assay was used to measure the level of PARL protein in sperm and sperm function was evaluated.Results The average concentrations of aluminum in the batching,electrolysis and casting of aluminum exposure group were (6.72± 1.45),(7.23± 1.50) and (7.35± 1.72)mg/m3,which were significantly higher than those of the control group (F=8.314,P<0.001).The content of aluminum in blood and urine of exposed group were significantly higher than those of control group (P<0.05),while the levels of PARL of exposed group were significantly lower than those of control group (P<0.05).Moreover,the sperm survival rate and sperm motility of exposed group were significantly lower than those of the control group,and the sperm deformity rates of exposed group were significantly higher than those of the control group(P<0.05).Pearson correlation analysis showed that there was a positive correlation of sperm motility,sperm survival rate and protein level of PARL (rsprm motility=0.713,P=0.012;rsperm survival rate =0.628,P=0.008);while the sperm deformity rate and protein level of PARL showed a significant negative correlation (rsperm deformity rate =0.953,P =0.002).Conclusion The sperm function was significantly impaired in aluminum exposed workers,and the changes of sperm motility,survival rate and malformation rate were closely related to the protein level of PARL.

14.
Article in Chinese | WPRIM | ID: wpr-344192

ABSTRACT

<p><b>OBJECTIVE</b>To explore the genetic etiology of fetuses with ventricular septal defects (VSD) using chromosomal microarray analysis (CMA).</p><p><b>METHODS</b>A total of 248 fetuses were divided into isolated VSD group, VSD with other cardiac and/or great vessels malformation group, VSD with extra-cardiac anomalies group (including malformation and sonographic soft markers), and VSD with both cardiac and extra-cardiac anomalies group. Standard karyotyping was carried out for all fetuses, and CMA was performed for 6 fetuses with an abnormal karyotype and a proportion of fetuses with a normal karyotype. All cases were followed up, and neonates were followed up until 1 year of age.</p><p><b>RESULTS</b>Chromosomal abnormalities were identified in 60 (24.2%) of the 248 fetuses. For 6 of the fetuses subjected to further CMA analysis, the origin of abnormal chromosomes were clarified, among which 2 have overlapped with the critical region of Wolf-Hirschhorn syndrome. Candidate genes for VSD included WHSC1, LBX1, LDB3 and BBS10. For 143 fetuses with a normal karyotype, CMA has identified pathogenic copy number variations (CNVs) in 11 cases (7.7%). These included 9 well-known microdeletion or microduplication syndromes, including 22q11.2 microdeletion, 17p11.2 microdeletion (Smith-Magenis syndrome), 17p13.3 microdeletion (Miller-Dieker syndrome), 1p36 microdeletion, 1q21.1 microduplication and 4q deletion. Candidate genes for VSD included TBX1, LZTR1, FAT1, AKAP10, SKI, PRDM26, GJA5, ERCC4 and YWHAE. For 48.7% of the fetuses with benign CNVs, spontaneously closure has occurred within the first year of life.</p><p><b>CONCLUSION</b>CMA may increase the detection rate of submicroscopic imbalances by 7.7%. No significant correlation between different groups of VSD and the pathogenic CNVs was observed. Whole-genome CMA should be recommended to the fetuses with VSD but a normal karyotype. Nearly half of VSDs with benign CNVs may close spontaneously within the first year of life.</p>


Subject(s)
Chromosome Aberrations , Chromosome Deletion , DNA Copy Number Variations , Heart Septal Defects, Ventricular , Genetics , Humans , Infant , Infant, Newborn , Karyotyping , Microarray Analysis , Methods , Prenatal Diagnosis , Methods
15.
Article in Chinese | WPRIM | ID: wpr-335090

ABSTRACT

<p><b>OBJECTIVE</b>To assess the value of chromosome microarray analysis (CMA) for identifying the etiology of developmental delay/intellectual disability (DD/ID).</p><p><b>METHODS</b>A total of 489 children referred for DD/ID with or without other abnormalities were recruited. All patients showed a normal karyotype. DNA was extracted and hybridized with Affymetrix CytoScan 750K array by following the manufacturer's protocol. The data was analyzed with CHAS v2.0 software.</p><p><b>RESULTS</b>The children were classified as with isolated DD/ID (n=358), DD/ID with epilepsy (n=49), and DD/ID with other structural anomalies (n=82). Pathogenic copy number variants (CNVs) were identified in 126 cases (25.8%), which included 89 (24.9%, 89/358) of whose with isolated DD/ID, 13 (26.5%, 13/49) of those with DD/ID and epilepsy, and 24 (29.3%, 24/82) of whose with DD/ID and other structural anomalies [P=0.064 (24.9% vs. 26.5%), P=0.679 (24.9% vs. 29.3%), and P=0.113 (26.5% vs. 29.3%), respectively]. Among the 126 cases, 79 were identified as microdeletion/microduplication syndromes, which included 15q24 microdeletion syndrome, Xq28 microduplication syndrome, and Lowe syndrome. Forty-seven cases had de novo pathogenic CNVs. ABAT, PMM2, FTSJ1, DYNC1H1 and SETBP1 were considered as candidate genes for DD/ID.</p><p><b>CONCLUSION</b>CMA is an effective method for identifying the etiology of DD/ID and is capable of identifying microdeletion/microduplication syndromes as well as de novo pathogenic CNVs which may be missed by conventional karyotyping. Based on the results, candidate genes for DD/ID may be identified.</p>


Subject(s)
Child , Child, Preschool , Chromosomes , Genetics , Developmental Disabilities , Genetics , Female , Humans , Infant , Intellectual Disability , Genetics , Karyotyping , Methods , Male
16.
Article in Chinese | WPRIM | ID: wpr-335079

ABSTRACT

<p><b>OBJECTIVE</b>To assess the value of genome-wide high-resolution chromosomal microarray analysis (CMA) for the delineation of pathogenesis for fetal ventriculomegaly diagnosed by ultrasound or magnetic resonance imaging (MRI).</p><p><b>METHODS</b>Three hundred and forty-one cases of fetal ventriculomegaly were collected. The samples were grouped based on the extent of lateral ventricular dilatation, presence of additional features, site of occurrence, and the maternal age. All samples were subjected to karyotyping analysis. For those with a normal karyotype, DNA was extracted and hybridized with an Affymetrix CytoScan HD array. All cases were followed up.</p><p><b>RESULTS</b>Among the 341 fetuses, 21 (6.2%) were detected with an abnormal karyotype. For the 320 cases with a normal karyotype, 179 (55.9%) have accepted CMA analysis. Potentially pathogenic CNVs were identified in 12 (6.7%) of the 179 cases, whose sizes ranged from 198 kb to 8.71 Mb. These included a 1q21.3q23.1 deletion, a 2q37.3 deletion, a 3p14.1p13 deletion, a 6q25.3 deletion, a 8q11.23 duplication, a 10q21.1 deletion, a 15q11.2 deletion and a 16p13.11p12.3 duplication, a 22q13.33 duplication, a 22q11.21 duplication and a Xp21.1 duplication (Duchenne muscular dystrophy). Pathogenic CNVs were detected respectively in 7.5% and 3.1% of those with mild and severe ventriculomegaly (P=0.615), in 6.1% and 7.4% of those with isolated and non-isolated ventriculomegaly (P=0.732), in 5.6% and 7.9% of those with unilateral and bilateral ventriculomegaly (P=0.511), and in 6.7% of both elderly and non-elderly groups (P=1.000).</p><p><b>CONCLUSION</b>The detection rate for abnormal karyotypes among fetuses with ventriculomegaly was 6.2%. CMA can increase the detection rate by approximately 6.7%. There was no significant correlation between ventriculomegaly and presence of pathogenic CNVs. In clinical practice, fetuses with ventriculomegaly and a normal karyotype should be considered for CMA analysis.</p>


Subject(s)
Adult , Chromosome Aberrations , Female , Fetus , Congenital Abnormalities , Humans , Hydrocephalus , Genetics , Karyotyping , Methods , Microarray Analysis , Methods , Pregnancy , Prenatal Diagnosis , Young Adult
17.
Chinese Journal of Nephrology ; (12): 264-270, 2017.
Article in Chinese | WPRIM | ID: wpr-609918

ABSTRACT

Objective To explore the association of serum soluble Klotho (sKlotho) with nonfatal cardiovascular disease (CVD) and all-cause/CVD mortality in maintenance hemodialysis (MHD) patients.Methods A total of 132 MHD patients admitted during October 2011 were enrolled.Serum sKlotho was measured by ELISA.Demographic data,including age,gender and comorbid conditions,were obtained from their medical histories,and parameters including calcium,phosphorus and albumin were assessed.The occurrence time of nonfatal CVD and all-cause mortality were recorded during the 60 months follow-up.MHD patients were categorized into four groups according to the quartiles of sKlotho:group Ⅰ (sKlotho < 361.34 ng/L),group Ⅱ (361.34 ng/L≤sKlotho< 398.81 ng/L),group Ⅲ (398.81 ng/L≤sKlotho<445.99 ng/L) and group Ⅳ (sKlotho≥445.99 ng/L).Spearman correlation analysis and binary Logistic regression analysis were used to test the association between sKlotho and nonfatal CVD events.The impacts of sKlotho on all-cause mortality and CVD mortality were assessed by Kaplan-Meier method with log-rank test.Cox regression model was applied to evaluate the effect of sKlotho on MHD patients outcomes.Results All 132 MHD patients had sKlotho ranging from 304.02 ng/L to 550.62 ng/L.And 87 patients suffered from nonfatal CVD,with 192 episodes of nonfatal CVD during the follow-up period.The sKlotho had negative correlations with coronary artery disease (r=-0.286,P=0.001),congestive heart failure (r=--0.190,P=0.029),cerebrovascular accident (r=-0.240,P=0.006) and peripheral arterial occlusion (r=-0.243,P=0.005).The sKlotho were risk factors of coronary artery disease (OR=0.989,P=0.023) and peripheral artery occlusion (OR=0.988,P=0.046).35 patients died in the follow-up period,including 27 death from CVD.The all-cause mortality and CYD mortality rates were significantly different among four groups (P=0.036,P=0.047).Survival rates of all-cause death and CVD death varied among four groups (x2=8.076,P=0.044;X2=7.866,P=0.049).Patients in group Ⅳ had higher survival rates of allcause death and CVD death than those in group Ⅰ and group Ⅱ (all P < 0.05).Multivariate Cox regression analyses revealed diabetes and age were independent risk factors for all-cause mortality and CVD mortality (all P < 0.05),but sKlotho was not associated with the poor prognosis (HR=0.996,P=0.256;HR=0.996,P=0.287).Conclusions Patients with lower sKlotho have worse nonfatal CVD ratio,especially coronary artery disease and peripheral arterial occlusion.Reduced serum sKlotho is associated with all-cause and CVD mortality,but sKlotho is still not a predictive indicator of prognosis of MHD patients.

18.
Article in Chinese | WPRIM | ID: wpr-345369

ABSTRACT

<p><b>OBJECTIVE</b>To explore the genetic etiology of fetuses with multicystic dysplastic kidney (MCDK) by chromosome microarray analysis (CMA).</p><p><b>METHODS</b>Seventy-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.</p><p><b>RESULTS</b>Conventional 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.</p><p><b>CONCLUSION</b>CMA 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.</p>


Subject(s)
Adult , Chromosomes , Genetics , Female , Fetus , Humans , Male , Microarray Analysis , Methods , Multicystic Dysplastic Kidney , Genetics , Pregnancy , Prenatal Diagnosis , Methods , Young Adult
19.
Article in Chinese | WPRIM | ID: wpr-247685

ABSTRACT

<p><b>OBJECTIVE</b>To analyze patients with skeletal anomalies (SA) but a normal karyotype using chromosome microarray analysis (CMA).</p><p><b>METHODS</b>From 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.</p><p><b>RESULTS</b>Two 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.</p><p><b>CONCLUSION</b>Whole-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.</p>


Subject(s)
Bone and Bones , Congenital Abnormalities , Child , Child, Preschool , Chromosome Aberrations , DNA Copy Number Variations , Humans , Infant , Infant, Newborn , Karyotype , Oligonucleotide Array Sequence Analysis
20.
Article in Chinese | WPRIM | ID: wpr-496167

ABSTRACT

Objective To investigate the application of fetuses with talipes equinovarus (TE) using chromosomal microarray analysis (CMA) technology. Methods From May 2012 to June 2015, 54 fetuses were found with TE and with or without other structural anomalies by prenatal ultrasound. Karyotyping was taking for them all, and the fetuses with normal karyotypes took another CMA test. The data were analyzed with CHAS software. Finally all the cases were followed up to know about their pregnancy outcomes. Results One of the 54 cases was detected with abnormal karyotype which was trisomy 18 (2%, 1/54). CMA was undertaken to the remaining fetuses, they were divided into 2 groups, including isolated TE group (n=38) and complex TE group (n=15). The detection rate of clinical significant copy number variations (CNV) by CMA was 11% (6/53), while isolated and complex TE group were 5% (2/38) and 4/15, respectively (P=0.047). Of the 53 cases, 51 cases were successfully followed up. Eleven cases were found without TE after birth, and the false positive rate (FPR) of TE was 22%(11/51). Conclusions Whole-genome high-resolution CMA increased the detection rate by 11% in fetuses with TE. With the FPR and the detection rate of the clinical significant CNV of 2 groups, whole-genome CMA could be recommended to the fetuses with complex TE group but normal karyotypes. A series of ultrasonic tests should be suggested to the isolate TE group, while with the abnormal ultrasound, fetuses would be suggested to have CMA test for decreasing the rates of invasive prenatal diagnosis and FPR.

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