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1.
Chinese Journal of School Health ; (12): 1521-1524, 2020.
Article in Chinese | WPRIM | ID: wpr-829315

ABSTRACT

Objective@#To explore prevalence of childhood neglect and autonomic nervous function, and its association in sixth graders students in Harbin, and to provide clues to improve physical and mental health of children and adolescents.@*Methods@#Cluster sampling method was used to select 1 259 students from grade 6 in 5 schools in two districts of Harbin, and Childhood Trauma Questionnaire-Short Form (CTQ-SF) and TOHO University Medical Index (TMI) were filled in.@*Results@#The total rate of childhood neglect was 45.7%, of which the rate of emotional neglect and physical neglect were 18.8%, 40.8%. The rate of autonomic nerves disorder was 47.2%. The rate of autonomic nerves disorder in students suffered from neglect, emotional neglect, physical neglect are higher than those without any of neglect(χ2=50.52, 32.02, 43.61, P<0.01), and with the increase of the degree of neglect, the rate of autonomic nervous disorder were gradually increasing(χ2=47.99, 47.07, 49.24, P<0.01). After controlled for gender, neglect, emotional neglect, physical neglect were positively associated with autonomic nerves disorder(OR=1.53-2.34, P<0.05), and the odd ratio for autonomic nerves disorder among those with mild-to-moderate,moderate-to-severe and extremely servere neglect was 1.37, 1.83, 5.10 compared to those with none or mild neglect.@*Conclusion@#Childhood neglect is closely related to adolescent the autonomic nerves disorder in sixth graders students in Harbin. Moreover, the more serious the childhood neglect is, the higher the detection rate of autonomic nerves disorder is. In order to improve the physical and mental health of children and adolescents, it is necessary to pay attention to childhood neglect and early assessment of their autonomic function.

2.
Journal of Zhejiang University. Medical sciences ; (6): 634-637, 2010.
Article in Chinese | WPRIM | ID: wpr-319846

ABSTRACT

<p><b>OBJECTIVE</b>To evaluate the application of contrast-enhanced ultrasonography (CEUS) in diagnosis of inflammatory pseudotumor of liver (IPL).</p><p><b>METHODS</b>The contrast-enhanced untrasonography was performed in 32 cases of IPL and the results were retrospectively analyzed.</p><p><b>RESULT</b>Among total 32 cases, 21 had absent contrast enhancement (type I); 6 had rimlike or stringlike enhancement during arterial phase and presented hypoechoic lesions during the late phase (type II); 2 had diffuse and homogeneous enhancement during early arterial phase,persisting hyperechoic during the late phase (type III); 3 had enhancement during arterial phases and washed out more quickly than liver parenchymal (type IV).</p><p><b>CONCLUSION</b>The perfusion pattern of IPL with CEUS varies, the predominant type is no contrast enhancement; type IV may be confused with atypical hepatic carcinoma, in that case the needle biopsy is necessary.</p>


Subject(s)
Adult , Female , Humans , Male , Middle Aged , Young Adult , Granuloma, Plasma Cell , Diagnostic Imaging , Liver , Diagnostic Imaging , Liver Diseases , Diagnostic Imaging , Retrospective Studies , Ultrasonography
3.
Chinese Journal of Nephrology ; (12)2005.
Article in Chinese | WPRIM | ID: wpr-559419

ABSTRACT

T, p.R394W in exon 9.

4.
Chinese Journal of Medical Genetics ; (6): 5-9, 2005.
Article in Chinese | WPRIM | ID: wpr-321172

ABSTRACT

<p><b>OBJECTIVE</b>Synpolydactyly (SPD, MIM 186000), also known as syndactyly type II, is a dominantly inherited limb malformation with incomplete penetrance and variable expressivity. Polyalanine tract expansion in HOXD13 has been shown to be the disease-causing mutation in SPD. The present study was designed to identify mutation in HOXD13 and to provide prenatal diagnosis, in a large Chinese SPD family consisting of 54 individuals.</p><p><b>METHODS</b>The proband and 4 other affected individuals in the family were evaluated physically and radiologically to ascertain the SPD phenotype. Genomic DNA was extracted from peripheral blood samples obtained from 18 family members (9 affected and 9 unaffected), and from amniotic fluid and chorionic villus samples obtained from the proband during her two consecutive pregnancies. With the use of a pair of specific primers, a fragment of 161bp was amplified by polymerase chain reaction (PCR) to cover the imperfect GCN triplet repeat sequence in exon 1 of HOXD13 encoding the 15-residue polyalanine tract. The PCR products were detected by agarose gel electrophoresis, and sequenced after cloning into pMD18T vector. To confirm prenatal diagnosis, haplotype analysis was also performed by allele-typing three microsatellite markers, including the intronic CA repeats in HOXD13.</p><p><b>RESULTS</b>Digital and radiographic findings indicated a typical SPD phenotype in the family. These included 3/4 finger syndactyly and 4/5 toe syndactyly with an extra digit in the syndactylous web. Unilateral finger syndactyly in the proband, unilateral toe syndactyly in 2 individuals, bilateral brachydactyly of the fifth toes in 1 individual, and clinodactyly of the fifth fingers in 4 individuals were also observed, indicating variable expressivity. Gel electrophoresis of the PCR products showed an additional longer fragment in all 9 affected individuals but not in the unaffected ones. Sequence analysis of the longer fragment revealed a 9-alanine expansion. The expansion was detectable in DNA from the amniotic fluid and chorionic villus samples. Furthermore, haplotype analysis ruled out potential contamination of the maternal DNA. These suggested that the two fetuses carried the same polyalanine expansion.</p><p><b>CONCLUSION</b>HOXD13 polyalanine expansion was detected in a large Chinese family with SPD and prenatal diagnosis of two affected fetuses was achieved. This is the first report on prenatal diagnosis of SPD by detecting the HOXD13 polyalanine expansion in the Han population of the Chinese mainland.</p>


Subject(s)
Female , Humans , Male , Pregnancy , Base Sequence , China , DNA Mutational Analysis , Family Health , Homeodomain Proteins , Genetics , Molecular Sequence Data , Mutation , Pedigree , Peptides , Genetics , Polydactyly , Diagnosis , Genetics , Polymerase Chain Reaction , Prenatal Diagnosis , Methods , Transcription Factors , Genetics , Trinucleotide Repeat Expansion
5.
Chinese Journal of Pediatrics ; (12): 759-761, 2004.
Article in Chinese | WPRIM | ID: wpr-314406

ABSTRACT

<p><b>OBJECTIVE</b>Cleidocranial dysplasia (CCD) is a rare skeletal disease with autosomal dominant inheritance associated with mutation in RUNX 2. The authors report a Chinese girl with CCD in whom the mutation in RUNX 2 was identified.</p><p><b>METHODS</b>Clinical diagnosis was based on physical examination, radiological findings, and biochemical tests. For mutation detection, genomic DNA was extracted from peripheral blood using standard method. All 7 coding exons of RUNX 2 and their flanking intronic sequences were amplified by polymerase chain reaction (PCR), and the PCR products were then subjected to automatic DNA sequencing.</p><p><b>RESULTS</b>The affected girl showed typical clinical manifestations of CCD, including patent fontanelles, absent clavicles, short stature and dental anomalies. Direct sequencing of PCR-amplified fragments revealed a recurrent missense mutation, R190W (568 C > T), in RUNX 2. The mutation was further confirmed by Hae III restriction analysis.</p><p><b>CONCLUSION</b>A Chinese case of CCD was confirmed and the disease-causing mutation was linked to a recurrent point mutation in RUNX 2.</p>


Subject(s)
Female , Humans , Cleidocranial Dysplasia , Genetics , Core Binding Factor Alpha 1 Subunit , Genetics , Mutation
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