Publications by authors named "Ying-Jun Xie"
The proband with congenital heart disease and abnormal thumb was clinically diagnosed as Holt-Oram syndrome (HOS). A novel variant, T-box transcription factor 5 (TBX5) c.755 + 1 G > A, was identified in the proband via whole exome sequencing and validated using Sanger sequencing.
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- * Findings indicate that diabetes mellitus (DM) is present in 6.54% of individuals with β-thalassemia major, with a notably higher prevalence of 7.90% in the Middle East region.
- * Additionally, the study reported other disorders related to glucose metabolism: impaired fasting glucose (17.21%), impaired glucose tolerance (12.46%), and various endocrine disorders (43.92%), confirming that the prevalence rates remained stable over time and were not significantly affected by publication bias.
Article Synopsis
- The study investigates the genetic causes behind fetal posterior fossa abnormalities (PFAs) identified through prenatal ultrasound between 2012 and 2016.
- It involved analyzing 74 cases of PFAs, revealing various types such as Blake's pouch cyst and Dandy-Walker malformation, with notable rates of chromosomal abnormalities found across these cases.
- Findings suggest that combining chromosomal microarray and karyotype analysis can improve prenatal diagnosis and management of PFAs, particularly when other structural abnormalities are present.
Article Synopsis
- - A case of Norrie disease was identified through prenatal ultrasound, where initial eye examinations at 22 and 31 weeks showed no issues, but significant abnormalities were detected at 36 weeks.
- - Genetic confirmation was achieved via Sanger sequencing of the DNP gene from the fetal cord blood, along with histological analysis.
- - The case is notable because it adds to the limited documentation of prenatal ultrasound diagnoses of Norrie disease, highlighting the normal eye development observed until late in the pregnancy before rapid disease progression.
Article Synopsis
- - The study assessed how effective chromosomal microarray analysis is for fetuses with ventricular septal defects (VSDs) that either occur alone or with other abnormalities, despite having a normal karyotype.
- - Out of 52 fetuses analyzed, 34.6% had copy number variants (CNVs), with a mix of benign and pathogenic findings, including some cases leading to additional malformations post-birth.
- - The findings suggested that while pathogenic CNVs were more common in nonisolated VSDs, the differences in detection rates compared to isolated VSDs were not statistically significant, indicating the utility of this analysis in prenatal diagnoses.
Objective: To evaluate whether discrepant copy number variations (CNVs) contribute to the risk for discordant congenital anomalies in monochorionic diamniotic (MCDA) twins.
Methods: We conducted a parallel testing using both G-banding for standard karyotyping and chromosomal microarray analysis (CMA) with Affymetrix CytoScan HD array in MCDA twins with discordant malformations.
Results: During the study period, 193 MCDA twins with discordant malformations were detected and followed up.
Background: Conventional karyotyping has been a routine method to identify chromosome abnormalities in products of conception. However, this process is being transformed by single nucleotide polymorphism (SNP) array, which has advantages over karyotyping, including higher resolution and dispensing with cell culture. Therefore, the purpose of this study was to evaluate the advantage of high-resolution SNP array in identifying genetic aberrations in products of conception.
View Article and Find Full Text PDF[Investigation of ultrasound markers in screening fetal trisomy 21].
Zhonghua Fu Chan Ke Za Zhi
February 2013
Article Synopsis
- The study aimed to evaluate how effective ultrasound markers are in screening for fetal trisomy 21 over a ten-year period, using data from 138 diagnosed fetuses.
- It found that a high percentage (95.7%) of the fetuses displayed sonographic anomalies, with 87% showing ultrasound markers, which can be categorized into isolated and non-isolated markers.
- The most common ultrasound markers identified included nasal bone hypoplasia and thickened nuchal fold, emphasizing the clinical importance of these markers in early detection of trisomy 21.
[Spectral karyotyping of seven prenatally detected marker chromosomes and complex chromosome aberrations].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
August 2012
Objective: To perform spectral karyotyping (SKY), fluorescence in situ hybridization (FISH) and conventional karyotyping on prenatally detected marker chromosomes and complex chromosomal aberrations.
Methods: Five marker chromosomes and 2 complex chromosome aberrations diagnosed by G banding were collected. SKY was performed to verify the composition of marker chromosomes.
[Clinical features of abnormal chromosome karyotypes in twin pregnancies complicated with structural abnormalities].
Zhonghua Fu Chan Ke Za Zhi
September 2011
Objective: To investigate the clinical features of the abnormal chromosome karyotypes in twin pregnancies complicated with fetal malformations.
Methods: Totally 181 twin pregnancies (362 fetuses) in which one or two fetuses had abnormalities diagnosed by ultrasound were referred to the First Affiliated Hospital of Sun Yat-Sen University from January, 2000 to September, 2010. They were divided into different groups according to (1) maternal age: the cases with maternal age ≥ 35 were divided into advanced pregnancy group (105 fetuses), and those with maternal age < 35 were divided into young pregnancy group (203 fetuses); (2) conceived method: those conceived by assisted reproductive technology were divided into assisted reproductive group (81 fetuses), and the natural conception pregnancies were divided into natural conception group (227 fetuses); (3) chorionicity: the monochorionic twin (MCT) pregnancies were divided into MCT group (123 fetuses), and the dichorionic twin (DCT) pregnancies were divided into DCT group (185 fetuses); (4) structural abnormalities: 205 fetuses with structural abnormalities were divided into the abnormal fetal group, and 103 fetuses without structural abnormalities were divided into the normal fetal group.
[Combined use of molecular cytogenetic techniques to detect a small chromosomal translocation].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
October 2011
Objective: Comprehensive use of molecular cytogenetic techniques for the detection of 1 case of small chromosome translocation.
Methods: Following conventional chromosome preparation, G-banding karyotype analysis, spectral karyotyping (SKY), whole chromosome painting, two-color fluorescence in situ hybridization (FISH) and subtelomeric probe FISH were performed.
Results: G-banded karyotype was 46, XX, ?(22q11.
Objective: To study the clinical application value of middle segment pancreatectomy in the treatment of benign tumors of the amphi-neck of the pancreas.
Methods: Fifteen cases were retrospectively analyzed treated from November 2005 to June 2009. There were 3 male and 12 female aging from 30 to 50 years.
[Gene therapy targeting for carcinoma regulated by E2F-1 promoter].
Zhonghua Wai Ke Za Zhi
December 2006
Article Synopsis
- The study aimed to explore how an adenoviral vector with an E2F-1 promoter selectively affects tumor cells while sparing non-proliferating normal cells.
- Researchers tested several recombinant adenoviruses, validating the effectiveness of the E2F-1 promoter in expressing genes selectively in tumor cells through techniques like PCR and Western Blot.
- Results showed that the E2F-1 promoter can selectively regulate gene expression and suppress tumor cell proliferation without harming normal cells, highlighting its potential for targeted cancer gene therapy.