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1.
Article in Chinese | WPRIM | ID: wpr-921977

ABSTRACT

OBJECTIVE@#To detect pathogenic variant in a child featuring Usher syndrome type II.@*METHODS@#Peripheral blood samples of the child and his parents were collected for the analysis of variants of hearing impairment-related genes. The findings were verified in 100 individuals with normal hearing.@*RESULTS@#The child was found to harbor compound heterozygous variants of the USH2A gene, namely c.8224-1G>C in intron 41 and c.5678C>G(p.Ser1893X) in exon 28, which were inherited respectively from his mother and father. Based on the American College of Medical Genetics and Genomics standards and guidelines, both c.8224-1G>C and c.5678C>G(p.Ser1893X) variants of USH2A gene were predicted to be pathogenic(PVS1+PM2+PM3).@*CONCLUSION@#The compound heterozygous variants c.8224-1G>C and c.5678C>G of the USH2A gene probably underlay the disease in this child. Above finding has enriched the spectrum of USH2A gene variants.


Subject(s)
Child , Exons , Extracellular Matrix Proteins/genetics , Family , Humans , Introns , United States , Usher Syndromes/genetics
2.
Article in Chinese | WPRIM | ID: wpr-879628

ABSTRACT

OBJECTIVE@#To assess the value of chromosomal microarray analysis (CMA) to verify a fetus with partial 18p deletion signaled by non-invasive prenatal testing.@*METHODS@#G-banding chromosomal karyotyping analysis was carried out on amniotic fluid sample of the fetus and peripheral blood samples from the parents. Amniotic DNA was also subjected to CMA analysis. The fetus was also subjected to systematic ultrasound scan.@*RESULTS@#The fetus was found to have a karyotype of 46,XX,18p+. CMA has revealed a 5 Mb deletion at 18p11.32-p11.31, a 2.9 Mb duplication at 18p11.31-p11.23, and a 2.5 Mb duplication at 18p11.23-p11.22. No chromosomal aberration or microdeletion/microduplication was detected in either parent.@*CONCLUSION@#Non-invasive prenatal testing and CMA are both sensitive for the detection of chromosomal microdeletions and microduplications. CMA can help with clarification of genotype-phenotype correlation and facilitate prenatal diagnosis and genetic counseling for the family.


Subject(s)
Chromosome Deletion , Chromosomes , Female , Fetus , Humans , Karyotyping , Pregnancy , Prenatal Diagnosis
3.
Article in Chinese | WPRIM | ID: wpr-781294

ABSTRACT

OBJECTIVE@#To explore the genetic basis of a child with idiopathic mental retardation.@*METHODS@#Clinical data and peripheral blood sample of the child were collected. Genomic DNA was extracted and subjected to copy number analysis using single nucleotide polymrophism array comparative genome hybridization (SNP-aCGH) and targeted capture and next generation sequencing (NGS).@*RESULTS@#No microdeletion/microduplication were detected by SNP-aCGH. NGS has detected homozygous c.722delA (p.Asp241fs) variant of the LISN1 gene, which is known to underlie autosomal recessive mental retardation-27 (MRT 27). Both parents are carriers of the variant, conforming to the autosomal recessive inheritance.@*CONCLUSION@#A novel pathogenic variant of the LINS1 gene has been identified, which probably underlies the MRT 27 in the patient.


Subject(s)
Child , Comparative Genomic Hybridization , High-Throughput Nucleotide Sequencing , Homozygote , Humans , Intellectual Disability , Genetics , Proteins , Genetics
4.
Article in Chinese | WPRIM | ID: wpr-871937

ABSTRACT

TORCH, which is considered as a series of pathogens, including the Toxoplasma gondii, Rubella virus, Cytomegalovirus or Herpes simplex virus, often infects the pregnant women to induce the the fetus or newborn infection by transplacental infection or exposure to contaminated genital tract secretions at delivery. Increasing evidence have been confirmed that the infection of TORCH may cause the miscarriage, premature birth, malformed fetus, stillbirth, intrauterine growth retardation, neonatal multiple organ dysfunction and other adverse pregnancy outcomes. For most TORCH-infections cases may lacking the effective treatments during pregnancy, and it is important to achieve the effacing monitoring of TORCH infections before and during pregnancy. The laboratory testing of TORCH has the great significance. However, the consensus opinions still need to improve the the standardization of TORCH testing process and the correct interpretation. Based on the characteristics of the TORCH detection method, this article gives a consensus opinion on the standardized detection and clinical application of TORCH from the laboratory perspective according to the characteristics and types of infection of different pathogens.

5.
Article in Chinese | WPRIM | ID: wpr-798657

ABSTRACT

Objective@#To explore the genetic basis of a child with idiopathic mental retardation.@*Methods@#Clinical data and peripheral blood sample of the child were collected. Genomic DNA was extracted and subjected to copy number analysis using single nucleotide polymrophism array comparative genome hybridization (SNP-aCGH) and targeted capture and next generation sequencing (NGS).@*Results@#No microdeletion/microduplication were detected by SNP-aCGH. NGS has detected homozygous c. 722delA(p.Asp241fs) variant of the LISN1 gene, which is known to underlie autosomal recessive mental retardation - 27 (MRT 27). Both parents are carriers of the variant, conforming to the autosomal recessive inheritance.@*Conclusion@#A novel pathogenic variant of the LINS1 gene has been identified, which probably underlies the MRT 27 in the patient.

6.
Article in Chinese | WPRIM | ID: wpr-827751

ABSTRACT

OBJECTIVE@#To provide genetic testing and prenatal diagnosis for a woman with Sheldon-Hall syndrome.@*METHODS@#The woman was subjected to targeted capture and next-generation sequencing for variant of genes associated with skeletal disorders. And the result was verified in her parents and fetus.@*RESULTS@#The woman was found to harbor a c.188G>A variant of the TNNT3 gene, which was also found in her affected mother and the fetus. Her grandmother and grandmother's brother had similar manifestations, which was in line with an autosomal dominant inheritance. The same variant was not found in her father.@*CONCLUSION@#The c.188G>A variant of the TNNT3 gene probably underlay the distal joint contracture in this pedigree, based on which prenatal diagnosis was attained.

7.
Article in Chinese | WPRIM | ID: wpr-826472

ABSTRACT

OBJECTIVE@#To explore the genetic basis for a child with global developmental delay and neurofibromatosis type 1 (NF1).@*METHODS@#The patient underwent clinical examination. Whole exome sequencing (WES) was carried out to detect pathogenic genetic variants.@*RESULTS@#The child had cafe au lait spots all over her body, pigmentation in the back, and global developmental delay as assessed by Gese II. Cranial MRI revealed globular abnormal density in the lower hemisphere of left posterior cranial fossa. WES detected a novel variant of the NF1 gene, c.6513-6515del (p.Tyr2171), which was strongly correlated with her clinical phenotype. The same variant was not found in either parent and was unreported previously.@*CONCLUSION@#The c.3842T>G variant of the NF1 gene probably underlay the NF1 and global developmental delay in this child, for whom prompt symptomatic treatment and regular follow-up were recommended.

8.
Article in Chinese | WPRIM | ID: wpr-879495

ABSTRACT

OBJECTIVE@#To explore the origin and mechanism of small supernumerary marker chromosomes (sSMC) in three fetuses.@*METHODS@#The three fetuses were predicted to have carried chromosomal abnormalities by non-invasive prenatal testing (NIPT). G-banding chromosomal karyotyping analysis were carried out on amniotic fluid samples of the fetuses and peripheral blood samples from their parents. Single nucleotide polymorphism array (SNP-array) was used to determine the origin, size and genetic effect of sSMCs.@*RESULTS@#In fetus 1, SNP array has detected two microduplications respectively at 4p16.3p15.2 (24.7 Mb) and 18p11.32q11.2 (20.5 Mb) which, as verified by fluorescence in situ hybridization (FISH), have derived from a balanced 46,XY,t(4;18)(p15.2q11.2) translocation carried by its father. Fetus 2 has carried a de novo microduplication of 15q11.2-q13.3 (9.7 Mb). The sequence of SMC in fetus 3 has derived from 21q11.2-q21.1 (8.3 Mb), which was inherited from its mother.@*CONCLUSION@#Both NIPT and SNP-array are highly accurate for the detection of sSMC. SNP-array can delineate the origin and size of abnormal chromosomes, which in turn can help with clarification of sSMC-related genotype-phenotype correlation and facilitate prenatal diagnosis and genetic counseling for the family.


Subject(s)
Chromosome Duplication/genetics , Female , Fetus , Humans , In Situ Hybridization, Fluorescence , Male , Polymorphism, Single Nucleotide , Pregnancy , Prenatal Diagnosis , Translocation, Genetic/genetics
9.
Article in Chinese | WPRIM | ID: wpr-771990

ABSTRACT

OBJECTIVE@#To detect mutation of NDP gene in a pedigree affected with Norrie disease.@*METHODS@#Sanger sequencing was used to analyze the NDP gene at Xp11.3. Prenatal diagnosis was performed on amniotic fluid sample after the causative gene was detected.@*RESULTS@#Sanger sequencing has revealed a c.2T>C (p.M1T) missense mutation of the NDP gene in the proband and the fetus. The same variation was not found in ClinVar and HGMD database.@*CONCLUSION@#The c.2T>C mutation of the NDP gene probably underlies the Norrie disease in this pedigree.


Subject(s)
Blindness , Eye Proteins , Female , Genetic Diseases, X-Linked , Humans , Nerve Tissue Proteins , Nervous System Diseases , Pedigree , Pregnancy , Prenatal Diagnosis , Retinal Degeneration , Spasms, Infantile
10.
Article in Chinese | WPRIM | ID: wpr-776734

ABSTRACT

OBJECTIVE@#To explore the clinical features and molecular basis for a child featuring infantile epilepsy and developmental disorders.@*METHODS@#Clinical data and peripheral blood samples of the child and his parents were collected. The coding regions of genes associated with nervous system development were subjected to target region capture sequencing.@*RESULTS@#The child developed generalized spasm at 3 months and was diagnosed with epilepsy at 6 months of age. He was treated with Depakin but was diagnosed with mental retardation and developmental retardation at 3 years of age. A novel heterozygous c.3842T to G variant of the SYNE1 gene was detected. His father was found to carry the same variant and had a history of convulsions in infancy but with no mental or developmental anomalies.@*CONCLUSION@#A novel variant of SYNE1 gene was identified in this child, and the prognosis may be poor.


Subject(s)
Child, Preschool , Developmental Disabilities , Genetics , Epilepsy , Genetics , Humans , Infant , Intellectual Disability , Genetics , Male , Mutation , Nerve Tissue Proteins , Genetics , Nuclear Proteins , Genetics , Seizures
11.
Article in Chinese | WPRIM | ID: wpr-805387

ABSTRACT

Objective@#To understand the current situation of human cytomegalovirus(HCMV) infection in local pregnant women and its impact on pregnancy outcomes, so as to provide reference for strengthening health care during pregnancy and promoting the policy of "fewer and better children"@*Methods@#A total of 2 000 pregnant women underwent prenatal examination who had delivery in the Maternal and Child Health Hospital of Huzhou from July 2017 to December 2018. HCMV IgM, IgG and IgG- avidity index (AI) were detected by enzyme-linked immunosorbent assay (ELISA), and HCMV DNA was detected by real-time polymerase chain reaction (PCR) -fluorescent probe. We also analyzed the positive status of HCMV and its relationship with pregnancy outcome.@*Results@#Among the 2 000 pregnant women, 1 941 cases (97.05%) were positive for HCMV IgG, 26 cases (1.30%) had active infection with HCMV, of whom 5 cases (0.25%) were serum HCMV IgM/IgG dual positive, 24 cases (1.20%) were urine HCMV DNA positive. HCMV IgG AI test result showed that 3 cases of AI ≤30%, which means that they had primary infections. The detection rates of HCMV DNA positive and HCMV IgM/IgG dual positive were 12.12%, 4.54% in 66 pregnant women with adverse pregnancy and 0.83%, 0.10% in 1 934 pregnant women with normal pregnancy. The difference was significant (χ2=68.663, 50.499, P<0.01). Logistic regression analysis showed that HCMV IgM/IgG dual positive (OR=12.743, 95%CI: 1.202-135.100, P=0.035), HCMV-DNA positive (OR=10.426, 95%CI: 3.635-29.909, P<0.01) were independent risk factors for adverse pregnancy outcomes. In addition, low education level, living in rural areas and having a history of adverse pregnancy also increased the incidence of adverse pregnancy outcomes.@*Conclusions@#HCMV infection is prevalent in pregnant women in this area, but only a few of them had active infection. HCMV active infection is a risk factor for adverse pregnancy outcomes.

12.
Article in Chinese | WPRIM | ID: wpr-800866

ABSTRACT

Objective@#To explore the clinical features and molecular basis for a child featuring infantile epilepsy and developmental disorders.@*Methods@#Clinical data and peripheral blood samples of the child and his parents were collected. The coding regions of genes associated with nervous system development were subjected to target region capture sequencing.@*Results@#The child developed generalized spasm at 3 months and was diagnosed with epilepsy at 6 months of age. He was treated with Depakin but was diagnosed with mental retardation and developmental retardation at 3 years of age. A novel heterozygous c. 3842T>G variant of the SYNE1 gene was detected. His father was found to carry the same variant and had a history of convulsions in infancy but with no mental or developmental anomalies.@*Conclusion@#A novel variant of SYNE1 gene was identified in this child, and the prognosis may be poor.

13.
Article in Chinese | WPRIM | ID: wpr-708993

ABSTRACT

Objective To investigate the distribution of methyleneterahydrofolate reductase (MTHFR) C677T gene polymorphisms and serum homocysteine (Hcy) levels in pregnant women. Method A total of 2 066 women with singleton pregnancies undergoing prenatal examinations in the Maternity and Child Health Care Hospital of Huzhou from January 2017 to October 2017 were recruited for the study.The MTHFR C677T genotype was detected by PCR-fluorescence probing, and the serum Hcy levels were detected by the cyclic enzyme method. According to the MTHFR C677T genotype detection analysis, the results were divided into the CC-type, CT-type, and TT-type groups. Statistical analyses were performed using the Hardy-Weinberg genetic equilibrium test, chi-square test, variance analysis, and t test. Result Among the 2066 pregnant women, the CC, CT, and TT genotype frequencies for the MTHFR C677T gene were 39.35%,46.52%,and 14.13%,respectively.The Cand T allele frequencies were 62.61% and 37.39%, respectively. The statistical significance values for the Shanxi, Zibo, Shanghai, Suzhou, Shangzhi, Xi'an, Huizhou, and Nanning areas were as follows: χ2=161.999, 166.083; 111.005, 112.517; 416.146, 441.245;14.262,14.23;36.368,35.871;199.498,204.771;19.641,16.377;and 66.79,61.593,respectively;P<0.05. The level of serum Hcy was(7.48±2.20)μmol/L,and the abnormal rate was 3.53%.The level of serum Hcy and the abnormal rate among the 3 genotypes were distributed as follows: TT>CT>CC. The difference was statistically significant(F=120.968, χ2=52.572, P=0.000). Conclusion The distribution of genotype frequencies for MTHFR C667T in 2 066 pregnant women was different in various geographical regions.The level of serum Hcy was associated with the MTHFR C677T gene. Observing MTHFR C677T gene polymorphisms and serum Hcy levels is helpful for monitoring and guiding folic acid supplementation during pregnancy,and establishing reasonable individual health preventive measures.It is an important method to improve the quality of life of the offspring and the family happiness index.

14.
Article in Chinese | WPRIM | ID: wpr-806658

ABSTRACT

Objective@#To observe the infection status and the distribution of the gene subtypes of human papillomavirus (HPV) in Huzhou.@*Methods@#Cervical exfoliated cells were collected from the women who attended the physical examination and the cervical HPV examination from June 2017 to December 2017 in Huzhou Maternal and Child Health-Care hospital. A total of 2 830 women were tested for 21 HPV genotypes (including HPV-16, 18, 31, 59, 66, 53, 33, 58, 45, 56, 52, 35, 68, 51, 39, 82, 26, 73, 6, 11, 81), using real-time polymerase chain reaction (RT-PCR), investigated the infection status and subtype distribution.@*Results@#Among the 2 830 women, 269 were positive for HPV, the total infection rate was 9.51% (269/2 830). The infection rate of single gene and double gene was 86.99% (234/269) and 11.90% (32/269), respectively. The infection rate of high-risk subtypes was 9.11% among the detected women (258/2 830), accounting for 83.77% of HPV gene detections (258/308). The HPV-58, 16, 52 were the most commonly found gene subtypes among the high-risk HPV. The rate of HPV infection and high-risk subtypes of HPV infection in women was the highest in the 56-60 year old group, and the lowest in the 31-35 year old group. In different age groups, the difference in high-risk HPV infection rate was statistically significant, the total infection rate had no statistical significance.@*Conclusions@#In Huzhou area, the HPV infection rate of women found through normal physical examination was 9.51%, the high risk type was 58, 16 and 52, and the 56-60 year old group was the high incidence group. This study provides the HPV infection status and HPV gene subtype distribution characteristics in women in Huzhou, which has important guiding value for the vaccine development and application, and for prevention of HPV infection.

15.
Article in Chinese | WPRIM | ID: wpr-688240

ABSTRACT

<p><b>OBJECTIVE</b>To assess the value of whole-genome amplification (WGA) and next generation sequencing (NGS) for the pre-implantation screening of discarded embryos.</p><p><b>METHODS</b>In total 476 discarded embryos were collected. After continued culture, 23 high-quality blastocysts were obtained. Blastocysts graded as 4BC or above based on Gardner classification were subjected for blastula biopsy. Five to ten nourish ectoderm cells were hatched with a biopsy needle. Following WGA and NGS, deletion and/or duplication of chromosomal fragments and numerical chromosomal aberrations were analyzed.</p><p><b>RESULTS</b>In total 148 trophoblast cells were obtained from the 23 blastocysts. Following WGA, 60 amplification products were selected for NGS. The results showed that there were 39 abnormal chromosomes derived from 14 blastocysts, which gave an abnormal rate of blastocyst of 60.87% (14/23).</p><p><b>CONCLUSION</b>WGA combined with NGS can enable pre-implantation genetic screening for discarded embryos, which may improve the efficacy of in vitro fertilization as well as reduce the risk for birth defects.</p>

16.
Article in Chinese | WPRIM | ID: wpr-735065

ABSTRACT

Objective To explore the clinical application value of chemiluminescence detection of urine asymmetric dimethylarginine ( ADMA ) in pregnancy-induced hypertension ( PIH ) . Methods Collected the 24 h urine from 60 normal pregnancy women and 72 PIH pregnancy women who were admitted to Huzhou Maternal and Child Health Hospital from May 2014 to April 2015 by the case-control study , Determination of urine ADMA content by chemiluminescence ( CLIA ) and high performance liquid chromatography ( HPLC ) , the results between two assays were analyzed by the Rank sum test , receiver operating characteristic ( ROC) curve and pearson correlation analysis .Results Compared with the normal control group , the urine ADMA concentration in the PIH group was significantly increased by HPLC and CLIA, and the concentration of ADMA by CLIA in the PIH group was 68.18(57.25,81.55)μmol/L higher than that of the normal control group 30.11(22.69,42.97)μmol/L(Z=-8.139,P<0.001),and the concentration of ADMA by HPLC in the PIH group by HPLC was 71.11(57.65,82.89)μmol/L higher than that of the normal control group 28.11(21.06,42.99)μmol/L(Z=-8.356,P<0.001).The difference was statistically significant .The two methods of urine ADMA concentration were highly positively correlated with PIH blood pressure.The correlation coefficient r values were 0.746 and 0.763, respectively, the P values were 0.007 and 0.008 respectively.Conclusions CLIA can better detect the ADMA concentration in urine of pregnant women with PIH , and has a good clinical diagnosis ability .The ADMA concentration in urine is related to the blood pressure level of PIH .

17.
Article in Chinese | WPRIM | ID: wpr-344200

ABSTRACT

<p><b>OBJECTIVE</b>To explore the genetic etiology of two fetuses with Dandy-Walker malformation using single nucleotide polymorphism microarray (SNP-array).</p><p><b>METHODS</b>The fetuses and their parents were subjected to G banding karyotype analysis. The fetuses were also subjected to SNP-array analysis.</p><p><b>RESULTS</b>The parents of both fetuses showed a normal karyotype. One fetus has a 46,X,?i(X)(q10), while for another conventional cell culture has failed. SNP-array showed that one fetus carried a 6p25.3p25.2 microdeletion, and another carried a Xp22.33p22.2 deletion and a Yq11.221q11 duplication. The abnormal fragments have involved FOXC1, SHOX and STS genes, which are associated with Dandy-Walker malformation.</p><p><b>CONCLUSION</b>Alteration of 6p25.3p25.2, Xp22.33p22.2 copy numbers probably underlies the Dandy-Walker syndrome in the fetuses. The disorder may be attributed to abnormal expression of FOXC1, SHOX, and STS genes. SNP-array can provide an important supplement for prenatal diagnosis.</p>


Subject(s)
Adult , Chromosome Banding , Chromosome Deletion , Dandy-Walker Syndrome , Diagnosis , Genetics , Female , Humans , Polymorphism, Single Nucleotide , Pregnancy , Prenatal Diagnosis
18.
Article in Chinese | WPRIM | ID: wpr-505776

ABSTRACT

Objective To investigate the prevalence of thyroid diseases in women within 20-week gestation,and to discuss necessity of thyroid diseases screening in women within 20-week gestation.Methods 4986 singleton pregnant women performing prenatal examination in the Maternity and Child Health Care Hospital of Huzhou were recruited into this study.TSH,FT4,and TPOAb levels were detected with ABBOTT ARCHITECT i4000SR.Results ① The median value of TSH rised,the median value of FT4 went down with increase of the gestational weeks.There was significant difference of median value of TSH and FT4 between early and second trimester of pregnancy(P<0.01).② Rate of abnormal thyroid function was 12.88%,which was higher in the sec ond trimester of pregnancy than that in early pregnancy,and the difference had statistical significance (P<0.05).③ Positive rate of TPOAb in pregnant women was 11.41%.TPOAb levels were positively correlated with TSH,and no correlation with FT.TSH levels were negatively correlated with FT4.Prevalance of clinical hypothyroidism and subclinical hypothyroidism in TPOAb positive group was significantly higher than that in TPOAb negative group,and the difference had significant difference (P<0.05).Conclusions Prevalence of thyroid diseases during pregnancy is high.TPOAb is a risk factor and important predictor for hypothyroidism during pregnancy.It is very necessary to perform thyroid diseases screening for pregnant women as early as possible to ensure safety of pregnant women and their babies.

19.
Article in Chinese | WPRIM | ID: wpr-505624

ABSTRACT

Objective To explore the value of prenatal MRI in the diagnosis of fetal simple expansion of lateral ventricle(ventriculomegaly), and follow up the nervous system development status after birth. Methods Simple expansion of the lateral ventricle fetus by prenatal MRI examination were collected in Huzhou Maternal and Child Care Hospital from May 2013 to June 2015, 126 cases of live births in expansion group, 50 normal cases were recruited in the same period as the control group. In expansion group, fetal subgroup analysis was done:(1) unilateral or bilateral lateral ventricle expasion:one group was 98 cases was lateral ventricle expansion (77.8%, 98/126), expansion of bilateral ventricle group was 28 cases (22.2%, 28/126). (2) Prenatal MRI in the diagnosis of the lateral ventricle of expansion: expansion of the lateral ventricle width was greater than 10.0 mm, if both sides were expanding, the expand width was the heavier one side, divided into 3 subgroups: ①Expansion in group A (lateral ventricle width 10.0-12.0 mm) were 88 cases (69.8%, 88/126).②Expansion in group B (lateral ventricle width 12.1-15.0 mm) were 29 cases (23.0%, 29/126). ③Expansion of group C (lateral ventricle width> 15.0 mm) were 9 cases (7.12%, 9/126). All 176 cases were followed up after birth at the 3rd, 6th, 12th, 18th month (corrected age was used for premature babies), and Gesell developmental schedules (GDS) were used to evaluate the neurobehavioral development. Results (1) The MRI results after birth:21 cases were followed up by MRI after birth. In group A, 11 cases had MRI and 9 were normal (the ventricular width0.05). (3) The GDS results among the subgroups:in each evaluation after birth, there were no statistically significant differences between group A and the control group (all P>0.05). The GDS results of group B at the 3rd and 6th month were lower than those of the control group (P0.05). And for group C, statistically significant differences were found compared to the control group at each follow-up time (all P0.05). But when the result at the 3rd month was compared to the results of the 12th or 18th month, the differences were statistically significant (P0.05). There was no statistically significant difference between the results at the 12th and 18th month (P>0.05). (5) The GDS results in unilateral and bilateral ventricle expansion:at the 18th month, among the 98 unilateral cases, 86 (87.8%, 86/98) had normal GDS results(>85 scores);8 (8.2%, 8/98) had borderline results (75-85 scores);4 (4.1%, 4/98) had delayed results (0.05). Conclusions Among the simple expansion of lateral ventricle, those whose ventricular width are≤12.0 mm may not need clinical treatment. If the width is between 12.1 to 15.0 mm, closely follow-up and targeted rehabilitation training after birth are recommended. When the width is more than 15.0 mm, the risk of the central nervous system function delay is significantly increased, and early intervention might improve the prognosis.

20.
Journal of Breast Cancer ; : 132-141, 2017.
Article in English | WPRIM | ID: wpr-207536

ABSTRACT

PURPOSE: Uridine-cytidine kinase (UCK) 2 is a rate-limiting enzyme involved in the salvage pathway of pyrimidine-nucleotide biosynthesis. Recent studies have shown that UCK2 is overexpressed in many types of cancer and may play a crucial role in activating antitumor prodrugs in human cancer cells. In the current study, we evaluated the potential prognostic value of UCK2 in breast cancer. METHODS: We searched public databases to explore associations between UCK2 gene expression and clinical parameters in patients with breast cancer. Gene set enrichment analysis (GSEA) was performed to identify biological pathways associated with UCK2 gene expression levels. Survival analyses were performed using 10 independent large-scale breast cancer microarray datasets. RESULTS: We found that UCK2 mRNA expression was elevated in breast cancer tissue compared with adjacent nontumorous tissue or breast tissue from healthy controls. High UCK2 levels were correlated with estrogen receptor negativity (p<0.001), advanced tumor grade (p<0.001), and poor tumor differentiation (p<0.001). GSEA revealed that UCK2-high breast cancers were enriched for gene sets associated with metastasis, progenitor-like phenotypes, and poor prognosis. Multivariable Cox proportional hazards regression analyses of microarray datasets verified that high UCK2 gene expression was associated with poor overall survival in a dose-response manner. The prognostic power of UCK2 was superior to that of TNM staging and comparable to that of multiple gene signatures. CONCLUSION: These findings suggest that UCK2 may be a promising prognostic biomarker for patients with breast cancer.


Subject(s)
Biomarkers , Breast Neoplasms , Breast , Dataset , Estrogens , Gene Expression , Humans , Neoplasm Metastasis , Neoplasm Staging , Phenotype , Prodrugs , Prognosis , RNA, Messenger , Uridine Kinase
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