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1.
Chinese Journal of Otorhinolaryngology Head and Neck Surgery ; (12): 126-132, 2023.
Article in Chinese | WPRIM | ID: wpr-971419

ABSTRACT

Objective: To introduce a classification of alar retraction, and to discuss the therapeutic strategy of alar retraction with cartilage graft and the satisfaction evaluation of patients after operation. Methods: A retrospective analysis was performed on 88 patients with alar retraction admitted to the Department of Plastic and Aesthetic (Burn) Surgery, the Second Xiangya Hospital of Central South University from January 2015 to December 2020, including 20 males and 68 females, aged 20 to 48 years, with an average age of 28.98 years. All patients underwent external rhinoplasty according to a series of treatment plans determined by the classification of alar retraction based on nostril exposure. Visual Analogue Scale (VAS) and Rhinoplasty Outcomes Evaluation (ROE) were used to conduct satisfaction survey before and 12 months after operation. Wilcoxon signed-rank test was used to analyze patient satisfaction. Results: A total of 88 patients were included in this study. According to the classification of alar retraction based on nostril exposure, 45 cases were mild, 23 cases were moderate, and 20 cases were severe. There were 16 cases of unilateral and 72 cases of bilateral alar retraction. The patients were followed up for 12 to 18 months, with an average of 13.37 months. The VAS score and ROE score after each type of surgery were higher than those before surgery, with statistically significant (all P<0.05). Among them, the difference in VAS score (6.75±1.29) and in ROE satisfaction (67.70±7.38) of patients with severe alar retraction were the most significant improvement. Conclusion: The classification of alar retraction based on nostril exposure in the frontal view can comprehensively evaluate the severity of alar retraction, and makes the treatment algorithms systematic and comprehensive. The satisfaction of patients is relatively high.


Subject(s)
Male , Female , Humans , Adult , Rhinoplasty , Retrospective Studies , Patient Satisfaction , Treatment Outcome , Esthetics , Nose/surgery
2.
Chinese Journal of Burns ; (6): 85-90, 2023.
Article in Chinese | WPRIM | ID: wpr-971155

ABSTRACT

Wound healing involves complex pathophysiological mechanism, among which angiogenesis is considered as one of the key steps in wound healing, and promoting wound angiogenesis can accelerate wound healing. In recent years, mesenchymal stem cell-derived extracellular vesicles have been proven to produce equivalent effects of wound healing promotion comparable to stem cell therapy, with the advantages of low antigenicity and high biocompatibility. The specific mechanism by which extracellular vesicles facilitate wound healing is still not fully understood and is thought to involve all stages of wound healing. This article focuses on the possible mechanism of extracellular vesicles of adipose-derived mesenchymal stem cells in promoting wound angiogenesis, so as to provide ideas for further study on the mechanism of extracellular vesicles to promote wound healing.


Subject(s)
Wound Healing/physiology , Mesenchymal Stem Cells , Extracellular Vesicles , Stem Cell Transplantation
3.
Chinese Journal of Pathology ; (12): 370-375, 2023.
Article in Chinese | WPRIM | ID: wpr-985682

ABSTRACT

Objective: To investigate the distribution and characteristics of gene mutations in osteosarcoma, and to analyze the frequency and types of detectable mutations, and to identify potential targets for individualized treatment of osteosarcoma. Methods: The fresh tissue or paraffin-embedded tissue samples of 64 cases of osteosarcoma that were surgically resected or biopsied and then subject to next generation sequencing, were collected from Beijing Jishuitan Hospital, China from November 2018 to December 2021. The tumor DNA was extracted to detect the somatic and germline mutations using targeted sequencing technology. Results: Among the 64 patients, 41 were males and 23 were females. The patient age ranged from 6 to 65 years with a median age of 17 years, including 36 children (under 18 years old) and 28 adults. There were 52 cases of conventional osteosarcoma, 3 cases of telangiectatic osteosarcoma, 7 cases of secondary osteosarcoma, and 2 cases of parosteosarcoma. The detection rate of gene mutations was overall 84.4% (54/64). There were 324 variations in 180 mutated genes, including 125 genes with copy number variations, 109 single nucleotide variants, 83 insertions or deletions, and 7 gene fusions. The most common mutated genes were TP53, VEGFA, CCND3, ATRX, MYC, RB1, PTEN, GLI1, CDK4 and PTPRD. Among them, TP53 had the highest mutation rate (21/64, 32.8%), single nucleotide variant was the main mutation type (14/23, 60.9%), and 2 cases carried the TP53 germline mutation. VEGFA and CCND3 showed copy number amplification simultaneously in 7 cases. Conclusions: The high-frequency mutation of TP53 suggests that it plays an important role in the pathogenesis and development of osteosarcoma. VEGFA, CCND3 and ATRX are mutated genes in osteosarcoma and worthy of further studies. Combination of pathologic diagnosis and next generation sequencing with clinical practice can guide individualized treatment for patients with refractory, recurrent and metastatic osteosarcoma.


Subject(s)
Adult , Male , Child , Female , Humans , Adolescent , Young Adult , Middle Aged , Aged , DNA Copy Number Variations , Osteosarcoma/pathology , Mutation , DNA, Neoplasm , High-Throughput Nucleotide Sequencing , Bone Neoplasms/pathology , Nucleotides
4.
Chinese Journal of Contemporary Pediatrics ; (12): 472-481, 2022.
Article in Chinese | WPRIM | ID: wpr-928632

ABSTRACT

OBJECTIVES@#To study the effect of parent-child cooperative music therapy on the core symptoms of children with autism spectrum disorder (ASD) and their mothers.@*METHODS@#In this prospective study, 112 children with ASD and their mothers were divided into a music therapy group and an applied behavior analysis (ABA) group using a random number table (n=56 each). The children in the ABA group were treated with ABA, and those in the music therapy group were given parent-child cooperative music therapy in addition to the ABA treatment. The duration of intervention was 8 weeks for both groups. Childhood Autism Rating Scale (CARS), Autism Behavior Checklist (ABC), Parenting Stress Index-Short form (PSI-SF), Family APGAR Index, and Herth Hope Index (HHI) were used to evaluate the core symptoms of children with ASD and the parenting stress, family APGAR index, and hope level of mothers before and after intervention.@*RESULTS@#A total of 100 child-mother dyads completed the whole study, with 50 child-mother dyads in each group. After intervention, the children in the music therapy group had significantly lower total score of ABC scale and scores of sensation, social interaction, and somatic movement, as well as a significantly lower total score of CARS than those in the ABA group (P<0.05). After intervention, compared with the mothers in the ABA group, the mothers in the music therapy group had significantly higher total score of PSI-SF and score of parent-child dysfunctional interaction, significantly higher total score of HHI and scores of each dimension, and significantly higher total score of APGAR and scores of cooperation and intimacy (P<0.05).@*CONCLUSIONS@#Parent-child cooperative music therapy combined with ABA can alleviate the core symptoms of children with ASD, reduce the parenting stress of their mothers, and improve family APGAR index and hope level.


Subject(s)
Child , Female , Humans , Autism Spectrum Disorder/therapy , Mothers , Music Therapy , Parent-Child Relations , Prospective Studies
5.
Chinese Journal of Gastroenterology ; (12): 274-278, 2021.
Article in Chinese | WPRIM | ID: wpr-1016225

ABSTRACT

Background: Intestinal flora disorder plays an important role in the pathogenesis of chronic constipation. Either microbial agents or fecal microbiota transplantation has therapeutic effect on chronic constipation by regulating the intestinal flora. Aims: To study the characteristics of intestinal flora structure in elderly chronic constipation patients. Methods: Thirty elderly patients with chronic constipation from January 2019 to December 2019 at Nanjing Central Hospital were enrolled, and 30 elderly healthy subjects were served as controls. Stool was collected, and 16S rRNA high-throughput sequencing method was used to analyze the structure of intestinal flora. Results: Alpha diversity analysis showed that there were no significant differences in Ace, Chao, Shannon and Simpson indices between chronic constipation group and healthy control group. Twenty dominant genera accounting for more than 80% of all genera were identified in the two groups, Bacteroides was the most abundant genus. Beta diversity analysis showed that the species composition between the two groups was different, the characteristics of the two groups were not similar (R=0.098, P=0.001). Relative abundances of Prevotella, Faecalibacterium and Lachnospira were higher in the healthy control group, while Ruminococcus, Shigella, Parabacteroides and Alistipes were higher in chronic constipation group. Numbers of species with significantly different relative abundance in healthy control group and chronic constipation group were 25 and 2, respectively. Compared with healthy control group, the abundance of Alistipes, Oscillospira, Ruminococcus and Parabacteroides were higher in chronic constipation group (P< 0.05), while Megasphaera was lower (P< 0.05). Conclusions: There is no difference in the diversity of intestinal flora between elderly chronic constipation patients and elderly healthy controls, however, significant difference is detected in species composition. Therefore, targeting at modifying intestinal flora may be a promising therapeutic strategy for chronic constipation.

6.
Chinese Journal of Gastroenterology ; (12): 532-539, 2021.
Article in Chinese | WPRIM | ID: wpr-1016175

ABSTRACT

Background: Gastric cancer is a common gastrointestinal malignant tumor. MiR-21 can regulate the expression of phosphatase and tensin homologue (PTEN) protein and induce apoptosis of various tumor cells. Aims: To explore effect of miR-21 on proliferation, apoptosis and invasion of gastric cancer cells by targeting PTEN. Methods: SGC-7901 cells in logarithmic growth phase were divided into miR-21 mimic group, miR-21 inhibitor group, negative control group and blank control group. RT-PCR and Western blotting were used to detect mRNA and protein expressions of miR-21 and PTEN, respectively. The luciferase reporter gene assay was used to validate the targeted regulatory relationship between miR-21 and PTEN. Gastric cancer SGC-7901 cells were divided into blank control group, NC group, miR-21 group, PTEN group and miR-21+PTEN group. The proliferation activity was determined by CCK-8 assay, apoptosis was detected by TUNEL assay, and invasion and migration ability of cells was detected by Transwell and scratch test, respectively. The expressions of Ki-67, PCNA, ratio of cleaved caspase-3, Bcl-2, Bax, PTEN, p-PI3K/PI3K and p-Akt/Akt proteins were detected by Western blotting. A tumorigenesis model of nude mice was established to detect the effect of overexpression of miR-21 on the volume and mass of transplanted tumor. Results: MiR-21 could negatively regulate expression of PTEN. Compared with NC group, cell proliferation, invasion and migration rates were significantly increased in miR-21 group (P<0.05), apoptosis rate was significantly decreased (P<0.05), expressions of Ki-67, PCNA, ratio of Bcl-2/Bax, p-PI3K/PI3K and p-Akt/Akt proteins were significantly increased (P<0.05), expressions of PTEN and cleaved caspase-3 was significantly decreased (P<0.05). Cell proliferation, invasion and migration rates were significantly decreased in PTEN group (P<0.05), apoptosis rate was significantly increased (P<0.05), expressions of Ki-67, PCNA, ratio of Bcl-2/Bax, p-PI3K/PI3K and p-Akt/Akt proteins were significantly decreased (P<0.05), expressions of PTEN and cleaved caspase-3 were significantly increased (P<0.05). Compared with PTEN group, cell proliferation, invasion and migration rates were significantly increased in miR-21+PTEN group (P<0.05), apoptosis rate was significantly decreased (P<0.05), expressions of Ki-67, PCNA, ratio of Bcl-2/Bax, p-PI3K/PI3K and p-Akt/Akt proteins were significantly increased (P<0.05), and expressions of PTEN and cleaved caspase-3 were significantly decreased (P<0.05). Compared with the control group, overexpression of miR-21 significantly increased the volume and mass of transplanted tumor in nude mice (P<0.05). Conclusions: MiR-21 can negatively regulate PTEN expression, activate PI3K/Akt signaling pathway, promote proliferation, invasion and migration of gastric cancer cells, and inhibit cell apoptosis.

7.
Chinese Journal of Contemporary Pediatrics ; (12): 779-785, 2021.
Article in English | WPRIM | ID: wpr-888481

ABSTRACT

OBJECTIVES@#To study the effects of parent-child painting and creative crafting therapy on the core symptoms of preschool children with mild-to-moderate autism spectrum disorder (ASD) and the parenting stress and hope level of their mothers.@*METHODS@#A total of 56 preschool children with mild-to-moderate ASD and their mothers were divided into an experimental group and a control group using the block randomization method, with 28 pairs in each group. The subjects in the control group received an applied behavior analytic intervention and those in the experimental group received parent-child painting and creative crafting therapy in addition to the intervention in the control group. The intervention time was 20 weeks for both groups. Autism Behavior Checklist (ABC), Social Responsiveness Scale (SRS), Parenting Stress Index-Short Form (PSI-SF), and Herth Hope Index (HHI) were used to evaluate the core symptoms of children and the parenting stress and hope level of their mothers before and after 20 weeks of intervention.@*RESULTS@#Forty-nine child-mother pairs completed the study (25 pairs in the intervention group and 24 pairs in the control group). The children in the experimental group had significantly lower scores of social interaction, language, social communication, and social motivation and total scores of ABC and SRS compared with those in the control group (@*CONCLUSIONS@#The combination of applied behavior analytic intervention with parent-child painting and creative crafting therapy can more effectively improve the core symptoms and social interaction of preschool children with mild-to-moderate ASD, reduce the parenting stress of mothers and improve their hope level.


Subject(s)
Child, Preschool , Female , Humans , Autism Spectrum Disorder/therapy , Mothers , Parent-Child Relations , Parenting , Prospective Studies
8.
Chinese Journal of Perinatal Medicine ; (12): 750-756, 2020.
Article in Chinese | WPRIM | ID: wpr-871124

ABSTRACT

Objective:To explore the value of prenatal MRI in the diagnosis of isolated mild and moderate bilateral ventriculomegaly and neural development of the fetuses after birth.Methods:This is a retrospective study involving 244 singleton fetuses with isolated mild or moderate lateral ventriculomegaly diagnosed by both prenatal ultrasound and MRI in Huzhou Maternity & Child Health Care from May 2013 to June 2017, consisting of 82 cases with bilateral ventriculomegaly (BVM) and 162 with unilateral ventriculomegaly (UVM). The two groups were further divided into two subgroups: mild (lateral ventricle width: 10.0-12.0 mm, bilateral 56 cases, unilateral 120 cases) and moderate group (lateral ventricle width: >12.0-<15.0 mm, bilateral 26 cases, unilateral 42 cases). In addition, 50 singleton fetuses without any abnormality in the nervous system in prenatal check were included in the control group during the same period. All neonates were reexamined by ultrasound within one week after birth, and followed up regularly at the age of 3, 6, 12 and 18 months. Gesell Development Schedules (GDS) were used to evaluate the central nervous system's function, and postnatal changes in lateral ventriculomegaly were observed. Statistical analysis was performed by t, F, Chi-square tests (or Fisher's exact test). Results:(1) There was no difference among intervals between MRI scan and delivery in the BVM, UVM, and the control groups. The disappearance rate of lateral ventriculomegaly after birth was 80.4% (45/56) in the mild BVM group, 42.3% (11/26) in the moderate BVM group, 88.3% (106/120) in the mild UVM group, and 57.1% (24/42) in the moderate UVM group ( χ2=35.183, P<0.001). (2) The GDS evaluation results in the BVM group at 6, 12, and 18 months after birth were worse than those in the UVM group (all P<0.0167). The GDS evaluation results in the BVM group were worse than those in the control group at 3 and 6 months after birth [3 months: normal: 58.5% (48/82) vs 86.0% (43/50), borderline: 22.0% (18/82) vs 10.0% (5/50), delay: 19.5% (16/82) vs 4.0% (2/50), χ2=11.425; 6 months: normal: 63.4% (52/82) vs 88.0% (44/50), borderline: 19.5% (16/82) vs 8.0% (4/50), delay: 17.1% (14/82) vs 4.0% (2/50), χ2=9.678; all P<0.0167]. (3) The GDS evaluation results in the moderate BVM group at 6, 12, and 18 months after birth were worse than those in the moderate UVM group [6 months: normal: 30.8% (8/26) vs 69.0% (29/42), borderline: 30.8% (8/26) vs 21.4% (9/42), delay: 38.5% (10/26) vs 9.5% (4/42), χ2=11.417; 12 months: normal: 53.8% (14/26) vs 88.1% (37/42), borderline: 23.1% (6/26) vs 9.5% (4/42), delay: 23.1% (6/26) vs 2.4% (1/42), χ2=11.199; 18 months: normal: 65.4% (17/26) vs 95.2% (40/42), borderline: 15.4% (4/26) vs 2.4% (1/42), delay: 19.2% (5/26) vs 2.4% (1/42), χ2=10.568; all P<0.0167]. The GDS evaluation results of the moderate BVM group at 3, 6, 12, and 18 months after birth were worse than the control group. (4) In the BVM group, the GDS scores at 18 months of age were better than those at three months of age ( χ2=8.224, P=0.016). Conclusions:(1) Most mild BVM would disappear spontaneously after birth, while more in mild UVM cases. (2) The postnatal GDS evaluation results of the BVM group is significantly worse than that of the UBM group at months of age; (3) Fetuses with less severe isolated BVM are more likely to have improved GDS score after birth.

9.
Chinese Journal of Medical Genetics ; (6): 1344-1348, 2020.
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)
Female , Humans , Male , Pregnancy , Chromosome Duplication/genetics , Fetus , In Situ Hybridization, Fluorescence , Polymorphism, Single Nucleotide , Prenatal Diagnosis , Translocation, Genetic/genetics
10.
Chinese Journal of Disease Control & Prevention ; (12): 1309-1312,1322, 2019.
Article in Chinese | WPRIM | ID: wpr-779512

ABSTRACT

Objective This study applied the theory of planned behavior to investigate the leisure exercise situation among patients with type 2 diabetes mellitus (T2DM) and its influencing factors. Methods The questionnaire was self-designed based on the theory of planned behavior, which had good reliability and validity. Structural equation modeling was used to estimate the determinants of leisure exercise and the potential intermediate effect. Results 774 patients with T2DM were enrolled in this study. 52.6% were over 60 years old. The median amount of leisure exercise was 0.0 thousand-step equivalent with quartile of (0.0, 2.0). Structural equation modeling showed that the effects of attitude (β=0.080) and intention (β=0.277) on leisure exercise were significant. Besides, perceived behavioral control (β=0.180) had an indirect effect on exercise through intention. Conclusions In general, most patients with type 2 diabetes have insufficient amount of exercise. Improving attitude, control and intention to exercise would be one crucial part of exercise health education among patients with T2DM.

11.
Chinese Journal of Experimental and Clinical Virology ; (6): 617-621, 2019.
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.
China Journal of Endoscopy ; (12): 23-30, 2018.
Article in Chinese | WPRIM | ID: wpr-702944

ABSTRACT

Objective To evaluate the value of endobronchial ultrasound elastography in diagnosis of mediastinal lymph nodes by measuring the parameters of endobronchial ultrasound elastography. Methods Between 2016 and 2017, 46 patients with 63 lesions underwent EBUS-TBNA examination were included. Conventional ultrasound and ultrasound elastography were performed respectively to examine 63 lymph nodes before aspiration. Then various features of conventional ultrasound and parameters of ultrasound elastography were analyzed and recorded. Then evaluate the value of ultrasound elastography by pathological results and three-month follow-up data. Result The diagnostic value of ultrasound elastography image type, elasticity score, strain ratio and blue area ratio for malignant lymph nodes were higher than that of conventional ultrasound features in accuracy, sensitivity and specificity (P < 0.05); The accuracy of the boundary was the highest in the diagnosis of malignant lymph nodes. In the ultrasound elastography parameters, the accuracy of the elasticity score was the highest, and the blue area ratio had the largest area under the curve. When the boundary was used as the joint index to judge malignant lymph nodes with elasticity score and area ratio respectively, significantly higher than the diagnostic accuracy of conventional ultrasound and ultrasound elastography alone (P < 0.05). Conclusion The value of ultrasound elastography parameter in mediastinal lymph nodes diagnosis is higher than the conventional ultrasound features and a combination of both applications can improve discrimination accuracy of benign and malignant lymph nodes.

13.
Journal of Preventive Medicine ; (12): 987-990, 2017.
Article in Chinese | WPRIM | ID: wpr-792660

ABSTRACT

Objective To learn the epidemiological characteristics of HIV/AIDS cases aged 15-24 years in Shaoxing for making targeted prevention and control measures among young people. Methods To analyze the HIV/AIDS cases' distribution, route of transmission and reported route according to the cases which were reported 2003-2016 and aged 15-24 years. Results There were 325 cases had been reported. The epidemic had spread outward to each county, and transient population was accounted for 64.00%, and the ratio of male to female was 2.46:1. Career was widely dispersed, and farmers/migrant workers accounted for 31.08% , and students accounted for 10.15% . Homosexual transmission accounted for 41.29% , and heterosexual transmission accounted for 51.08% . The cases that were locality census register/high school education or above/unmarried adolescent, and professional for business services and student's homosexual transmission ratio was higher than that of heterosexual transmission. Voluntary counseling and testing was the major detection route which accounted for 16.9%. Conclusion The results showed that the male who aged 15-24 years was the most susceptible population. It is necessary to carry out effective measures to prevent and control HIV/AIDS transmission among young people, especially MSM and out-of-school youth.

14.
Chinese Journal of Medical Genetics ; (6): 416-418, 2017.
Article in Chinese | WPRIM | ID: wpr-335113

ABSTRACT

<p><b>OBJECTIVE</b>To screen for genomic copy number variants (CNVs) in a fetus with one sibling affected with Prader-Willi syndrome using single nucleotide polymorphism (SNP) array.</p><p><b>METHODS</b>The fetus and its parents were subjected to chromosomal karyotyping and SNP array analysis.</p><p><b>RESULTS</b>A 5p15.33 microdeletions was identified in the fetus and its phenotypically normal mother with a size of 344 kb (113 576 to 457 213). The father was normal for both testing. Analysis of literature and CNVs database indicated the above CNV to be variant of unclear significance. The couple decided to continue with the pregnancy and gave birth to a healthy boy at full-term. No abnormalities were found during the follow-up.</p><p><b>CONCLUSION</b>This study may provide further data for the phenotype-genotype correlation of 5p15.33 microdeletion, which differs from Cri du Chat syndrome.</p>


Subject(s)
Adult , Female , Humans , Male , Pregnancy , Chromosome Deletion , Chromosomes, Human, Pair 5 , Genetics , DNA Copy Number Variations , Fetal Diseases , Diagnosis , Genetics , Prader-Willi Syndrome , Diagnosis , Embryology , Genetics , Prenatal Diagnosis
15.
Chinese Journal of Medical Genetics ; (6): 666-670, 2017.
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 , Female , Humans , Pregnancy , Chromosome Banding , Chromosome Deletion , Dandy-Walker Syndrome , Diagnosis , Genetics , Polymorphism, Single Nucleotide , Prenatal Diagnosis
16.
Chinese Journal of Medical Genetics ; (6): 714-717, 2017.
Article in Chinese | WPRIM | ID: wpr-344189

ABSTRACT

<p><b>OBJECTIVE</b>To screen for genomic copy number variants (CNVs) in a fetus with cardiac abnormalities and intrauterine growth retardation through single nucleotide polymorphism microarray (SNP array) and karyotyping analysis.</p><p><b>METHODS</b>The fetus and its parents were subjected to conventional G banding and SNP-array analysis. The results were confirmed with fluorescence in situ hybridization (FISH).</p><p><b>RESULTS</b>G-banding analysis showed that the fetus has a karyotype of 47,XX,+mar. The father has a karyotype of 46,XY,t(4;18) (p15.2q11.2), while the mother showed a normal karyotype. SNP-array detected two microduplications at 18p11.32q11.2 (20.5 Mb) and 4p16.3p15.2 (24.7 Mb) in the fetus. The supernumerary marker chromosome carried by the fetus has derived from the balanced translocation carried by its father. The result was confirmed by FISH.</p><p><b>CONCLUSION</b>Based on the two microduplications, the fetus was diagnosed as Wolf-Hirschhorn syndrome in conjunction with Edward syndrome. Verification of the origin of the supernumerary marker chromosome by SNP-array has provided a basis for prenatal genetic diagnosis.</p>


Subject(s)
Female , Humans , Pregnancy , Chromosome Banding , Genetic Testing , In Situ Hybridization, Fluorescence , Karyotyping , Polymorphism, Single Nucleotide , Prenatal Diagnosis , Trisomy 18 Syndrome , Genetics , Wolf-Hirschhorn Syndrome , Genetics
17.
Journal of Southern Medical University ; (12): 678-682, 2017.
Article in Chinese | WPRIM | ID: wpr-360207

ABSTRACT

<p><b>OBJECTIVE</b>To investigate the effects of intragastric administration of Clostridium butyricum in regulating serum uric acid, lipopolysaccharides (LPS), interleukin-6 (IL-6) and tumor necrosis factor-α (TNF-α) in rats with hyperuricemia rats.</p><p><b>METHODS</b>Forty SD rats were randomized into 4 equal groups, namely the normal control group, hyperuricemia model group, benzbromarone (3 mg/kg daily) intervention group and live Clostridium butyricum group (1.5×10CFU/day). Except for those in the control group, the rats were subjected to intragastric administration of yeast extract and oteracil potassium once daily for 12 weeks to induce hyperuricemia with corresponding treatments. The changes in serum uric acid, lipopolysaccharides , IL-6 and TNF-α in each group were detected.</p><p><b>RESULTS</b>The serum level of uric acid was significantly higher in rats fed with high-purine diet than in the control rats (P<0.01), demonstrating the successful establishment of hyperuricemia models. In rats with hyperuricemia, serum uric acid level was positively correlated with the levels of LPS, IL-6 and TNF-α, and their serum levels decreased significantly and progressively with time in Benzbromarone group and Clostridium butyricum group. Benzbromarone was more effective in decreasing serum uric acid in the rats, while Clostridium butyricum produced a stronger effect in down-regulating the inflammatory mediators.</p><p><b>CONCLUSION</b>Chronic inflammatory reaction exists in rats with hyperuricemia. Intragastric administration of Clostridium butyricum can effectively decrease serum uric acid level and inhibit the inflammatory cytokines, and thus contributes to immune homeostasis in the intestines.</p>

18.
Medical Journal of Chinese People's Liberation Army ; (12): 555-559, 2016.
Article in Chinese | WPRIM | ID: wpr-849945

ABSTRACT

Objective To evaluate the effects of regional seawater immersion on the pain behavior and its secondary neuropathological change in the rats model of skin/muscle incision and retraction (SMIR). Methods Forty-eight male SD rats were randomly assigned into 3 groups (16 each): the model control group (only to set up SMIR model, Group MC), normal saline immersion group (to set up SMIR model and the incision immersed with normal saline, Group NS), seawater immersion group (to set up SMIR model and the incision immersed with seawater, Group SW). Mechanical paw withdrawal threshold (MWT) was measured 1d before and 1d, 3d, 5d, 7d, 14d, 21d and 28d after operation, respectively. At 3d and 28d after the operation, 8 rats were randomly selected from each group, ipsilateral saphenous nerves were taken from 4 rats for HE staining, and dorsal root ganglion of ipsilateral L3/L4 were taken from another 4 rats for ultrastructural observation by electron microscopy. Results Compared with the other two groups, MWT values in Group SW significantly reduced at every observation time and remained significantly lower than the basic level at 28d. There were no differences in MWT values between Group MC and Group NS, and the MWT values of the two groups at 28d were comparable with preoperative basic level. The HE staining of Group SW showed saphenous nerves were injured, while of Group MC and Group NS were normal. A large number of vacuolar mitochondrion and autophagosomes were observed in dorsal root ganglion of Group SW and few swelling mitochondrion was found in the other two groups. Conclusions Regional seawater immersion can aggravate the pain evoked by SMIR and may result in chronic pain. Peripheral nerve injury, ultrastructure changes of dorsal root ganglion neurons in rats caused by regional seawater immersion may be involved in the mechanism of the change of pain behavior.

19.
Chinese Journal of Integrated Traditional and Western Medicine ; (12): 306-309, 2016.
Article in Chinese | WPRIM | ID: wpr-328312

ABSTRACT

<p><b>OBJECTIVE</b>To explore the effect of early goal-directed therapy (EGDT) combined with Yiqi Fumai Lyophilized Powder (YFLP) on central venous-arterial carbon dioxide difference [P(cv-a)CO2] and central venous oxygen saturation (S(cv)O2) in patients with septic shock.</p><p><b>METHODS</b>Totally 50 patients with septic shock were assigned to the control group and the treatment group according to random digit table, 25 cases in each group. Patients in the control group received treatment according to EGDT principle. Those in the treatment group were intravenously injected with YFLP (5.2 g adding in 500 mL normal saline) additionally. Changes of P(cv-a)CO2, S(cv)O2, lactic acid, central venous pressure (CVP), mean arterial pressure (MAP), and APACHE II score were observed in the two groups before and after treatment. The 6-h success rate and 28-day mortality were also observed.</p><p><b>RESULTS</b>Compared with before treatment in the same group, lactic acid and APACHE II score decreased, levels of S(cv)O2, MAP, CVP increased in the two groups after treatment (P < 0.01). P(cv-a)CO2 decreased more obviously after treatment in the treatment group, and lower than that in the control group after treatment (P < 0. 05, P < 0. 01). The 6-h success rate was 48% (12/25) in the control group and 76% (19/25) in the treatment group (P < 0.05). The 28-day mortality was 36% (9/25) in the control group and 12% (3/25) in the treatment group (P < 0.05).</p><p><b>CONCLUSION</b>EGDT combined with YFLP could significantly elevate S(cv)O2, decrease P(cv-a)CO2 and mortality in patients with septic shock, and obviously improve the clinical effect.</p>


Subject(s)
Humans , APACHE , Blood Pressure , Carbon Dioxide , Blood , Drugs, Chinese Herbal , Therapeutic Uses , Lactic Acid , Blood , Shock, Septic , Therapeutics
20.
Asian Pacific Journal of Tropical Medicine ; (12): 836-840, 2015.
Article in English | WPRIM | ID: wpr-820464

ABSTRACT

OBJECTIVE@#To observe the effect of preemptive local injection of ropivocaine with dexmedetomidine on activation of glial cells and on the mirror pain in rats and its mechanism.@*METHODS@#A total of 48 adult male Sprague-Dawley rats (weighing 180 g-220 g) were included in the study and randomized into 3 groups, Group S, Group R, and Group RD1. A rat model of persistent postoperative pain evoked by skin/muscle incision and retraction was established in the three groups. Before procedures and nerve extraction, Group S (n = 16) was injected 0.9% saline locally; Group R (n = 16) was injected 0.5% ropivocaine locally, and Group RD1 (n = 16) was injected 0.5% ropivocaine in combined with 1 μg dexmedetomidine locally. After the model being established in the three groups, 8 rats were used for behavior test until 28 d, and dorsal root ganglions (DRGs) of the other 8 rats were harvested on the 3rd day after surgery. Immunofluorescent and transmission electron microscopy were used to observe the activation of glial cells in DRG, and the behavior test results in the three groups were compared.@*RESULTS@#The results showed that mechanical pain threshold in ipsilateral hind-paws of the Group S, Group R, Group RD1 animals dropped to (3.640 ± 1.963) g, (5.827 ± 1.204) g, (7.482) ± 1.412 g at 3 d respectively; while in contralateral paws dropped to (7.100 ± 1.789) g, (17.687 ± 1.112) g, (16.213 ± 1.345) g on the 3 d respectively. Immunofluorescent showed that the glial cells were activated in bilateral side DRG after surgery in 3 groups, but ipsilateral paws expressed more active glial cells than contralateral paws. Transmission electron microscopy showed that mitochondria swelling/vacuolization and lysosomes were more obvious in ipsilateral paws than contralateral paws, but Group RD1 formula could reduce glial cells activity, mitochondria swelling/vacuolization and the amount of lysosomes.@*CONCLUSIONS@#Local injection of ropivocaine and/or dexmedetomidine can effectively inhibit the activation of glial cells in DRG, mitigate the pathological changes of neuron in DRG and reduce mirror image pain.

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