1.Children's hearing behavior observations and high risk individual genetic screening for late-onset hearing loss early detection and intervention exploring a basic-level hospitals model.
Yilian GUO ; Xiangli ZENG ; Ting LIU ; Yudi ZOU ; Yanchou YE
Journal of Clinical Otorhinolaryngology Head and Neck Surgery 2015;29(18):1618-1621
OBJECTIVE:
To explore the methods to detect and intervene children's late-onset hearing loss early which are suitable for basic-level hospitals.
METHOD:
Udiology and imaging diagnosis had been given to the children who passed the newborn hearing screening but showed auditory behavior disorders in the growth process, and individualized interventions were given according to the results of diagnosis. Seven children with high risk for hereditary deafness were sent to superior hospital and had molecular screening of common mutations of inherited deafness carried out, then corresponding prevention guidance and intervention were given to them.
RESULT:
Fifty-two cases with late-onset hearing loss or verbal disorders were detected by auditory behavior observations,including 4 cases of auditory neuropathy, 4 cases of unilateral sensorineural deafness, 27 cases of secretory otitis media. 13 cases of bilateral sensorineural deafness and 4 cases of autism. Seven newborns with high risk of hereditary deafness were sent to the Third Affiliated Hospital of Sun Yat-Sen University and received molecular screening of common mutations of inherited deafness. One case with GJB2 compound heterozygous mutations was detected and followed up to 4 years old, he was found bilateral moderate hearing loss and accepted the hearing aids at 2 years old. Mitochondrial DNA 1555 a > G heterogeneity mutation in 2 cases and GJB2 235 delC single heterozygous mutations in 3 cases, no mutation in 1 case, all these 6 cases have been followed-up until now, their hearing are normal.
CONCLUSION
Children's auditory behavior observations and the superior hospitals referral performing high risk individual screening for newborns with high risk for hereditary deafness can detect children's late-onset hearing loss in time, this model is suitable for basic-level hospitals.
Behavior Observation Techniques
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Child
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Connexin 26
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Connexins
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genetics
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DNA Mutational Analysis
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DNA, Mitochondrial
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genetics
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Deafness
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diagnosis
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genetics
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Early Diagnosis
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Genetic Testing
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Hearing Tests
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Heterozygote
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Humans
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Infant, Newborn
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Male
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Mutation
2.The Changes of T Cells Subpopulations and Immunoglobulin and Their Relationship in Children Patients with Simple Nephrotic Syndrome.
qiu-ye, ZHANG ; zeng-yi, DONG ; mei-yu, YANG ; shu-lan, DONG ; xiu-ting, YANG
Journal of Applied Clinical Pediatrics 1992;0(06):-
Objective To search for the changes of T cells subpopulations and immunoglobulin and their relation-ship in children patients with simple nephrotic syndrome. Design Case-control research. Patients aud Participants 39 patients with simple nephrotic syndrome were divided into two groups:the incipient group and relapse group (6 cases were determined at the incipient and relapse time) .Thereare 28 patients in incipient group, 19 males and 9 females, at the age of 2 to 10 years old. There are20 patients in relapse group, 12 males and 8 females, at the age of 3 to 13 years old. There are 35health children in control group, 21 males and 14 females, 2~13 years old. Interventions T cells subpopulations were determined by indirect immunofluorescence of OKT linesmonoclonal antibodies. The serum IgG was determined by routine simple agar immunodiffusion tests. Results and Conclusions The CD_3~+ and CD_4~+ cells are of no change in the children patients withsimple nephrotic syndrome, and the CD_8~+ and CD_(10)~+ cells are obviously increased, the Values of CD_4~+/CD_8~+ are obviously lower than those in the control qroup, there are no difference between the incipientand relapse groups. The levels of serum IgG were decreased in the 85.3% children patients, IgM were inc-reased in 29.4% of that. The values of CD_4~+/CD_8~+ have positive correlation and negative correlationwith the levels of serum IgG and IgM respectively.
3.Clinical analysis of 18 primary intestinal T cell lymphoma misdiagnosed as Crohn′s disease
Baili CHEN ; Ting FENG ; Ziyin YE ; Rongping YANG ; Yao HE ; Zhirong ZENG ; Pinjin HU ; Minhu CHEN
Chinese Journal of Digestion 2015;(7):465-469
Objective To analyze clinical features and prognosis of primary intestinal T cell lymphoma (ITCL)which was misdiagnosed as Crohn′s disease (CD),and summarized the key points of differentiation between ITCL and CD.Methods From January 2003 to January 2014,clinical data of patients with ITCL once misdiagnosed as CD were retrospectively analyzed,which included demographic,clinical,pathological and prognostic data.The data of 177 patients diagnosed as CD from January 2012 to January 2014 were collected. The demographic,clinical,pathological and prognostic data of these two groups were analyzed and compared. The continuous variables were compared with t test or Mann-WhitneyU test,and the differences of classification variables between two groups were analyzed by Chi-square test or Fisher exact probability method.Results A
total of 18 patients (17 males and one female)with ITCL misdiagnosed as CD were enrolled in the study,and the median age at diagnosis was 38.5 (28.8 to 42.5)years and the median duration of diagnosis was 6.00 (3.75 to 13.25)months.The common primary symptoms were abdominal pain (12/18),diarrhea (13/18)and anemia (13/18).Intestinal perforation was primary symptom in two cases (2/18).However,B symptoms of lymphoma was observed in 16 patients,which included fever in 13 patients,weight loss in 16 patients and night sweat in one patient.One or more serious complications appeared in 12 patients,which included intestinal perforation in nine patients,severe gastrointestinal bleeding in seven patients and intestinal obstruction in two patients.In 177 patients with CD,104 patients were male (58.8%),and the median age at diagnosis was 22.0 (18.0 to 29.0) years.The primary symptoms were abdominal pain (88.7%,157/177),diarrhea (55.9%,99/177),anemia (63.8%,113/177),fever (33.3%,59/177)and weight loss (59.9%,106/177).During the disease course,30 patients (16.9%)had intestinal perforation (mainly chronic),12 patients (6.8%)had intestinal obstruction and seven patients (4.0%)had severe gastrointestinal bleeding.Compared to CD patients,male patients were more common in ITCL (χ2 =8.837,P <0.01),age at diagnosis was older (χ2 =314.5,P <0.01),the disease course was shorter (U=385.0,P <0.01),weight loss (χ2 =5.867,P <0.05)and fever (χ2 =10.609,P <0.01)were more common in clinical symptoms and intestinal perforation and severe gastrointestinal bleeding were more common in complications (χ2 =9.185,24.908,both P <0.01).The lesions of ITCL were multiple lesions, small bowel involved in eight cases,colon involved in 14 cases and one case with esophagus involved.Under endoscopy examination,most lesions appeared as ulcerations and were segmentally distributed.Compared to CD, lymphocyte proliferation was more common in the intestinal histopathological findings of ITCL (17/18 vs 19.7%(35/177);χ2 =42.844,P <0.01)and granuloma was rare (0 vs 42.8%(76/177),χ2 =12.665,P <0.01). Among 18 patients with ITCL,nine received chemotherapy and the median survival time was two months. Conclusions Primary ITCL had non-specific symptoms and was easily misdiagnosed as CD.More attention should be paid to the differential diagnosis of the two disease.
4.Numerical simulation of the distribution of shear stress on the bottom of parallel plate flow chamber under different inlet velocity conditions.
Ye ZENG ; Xiaoheng LIU ; Yi LAI ; Xianliang HUANG ; Bin MAO ; Ting GAO ; Yang SHEN
Journal of Biomedical Engineering 2010;27(4):785-789
The distribution of shear stress on the bottom of the parallel plate flow chamber under different inlet velocities was analyzed by numerical simulation. In the present experimental study, the projection planes of the relative errors at 0.7% level were obtained, and then the efficient region and the actual entrance length were further corrected by introducing the concept of relative error. The results showed that the efficient region of the chamber increased with the direction of length while the inlet velocity was increased, and the actual entrance length was much greater than that of the theoretical entrance length. Therefore, in accordance to the needed range of shear stress in experiment and to the needed efficient region area, the optimum design of the flow chamber is necessary.
Algorithms
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Blood Flow Velocity
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Blood Pressure
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physiology
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Computer Simulation
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Humans
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Models, Cardiovascular
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Numerical Analysis, Computer-Assisted
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Pulsatile Flow
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Rheology
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Shear Strength
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Stress, Mechanical
5.MiR-183-5p Promotes Proliferation, Metastasis and Angiogenesis in Breast Cancer Cells through Negatively Regulating Four and a Half LIM Protein 1
Yi LI ; Qing'an ZENG ; Jiliang QIU ; Ting PANG ; Fenglian YE ; Lin HUANG ; Xuexia ZHANG
Journal of Breast Cancer 2020;23(4):355-372
Purpose:
Four and a half LIM protein 1 (FHL1) is involved in breast cancer (BC) development, but the regulatory mechanism involved remain unclear. In the present study, we examined the role of FHL1 in BC development.
Methods:
The expression of FHL1, miR-183-5p, and miR-96-5p in BC tissues was analyzed using StarBase analysis. FHL1 expression in BC tissues, a normal human breast epithelial cell line, and BC cell lines was detected using quantitative reverse transcription polymerase chain reaction (qRT-PCR). The relationship between FHL1 and miR-183-5p/miR-96-5p was analyzed via Pearson's rank correlation, TargetScan, and a dual-luciferase reporter assay. BT549 and MDA-MB-231 cells were transfected with either FHL1 and miR-183-5p mimics, or siFHL1 and a miR-183-5p inhibitor, respectively. The viability, colony number, migration, invasion, and tube length of BT549 and MDA-MB-231 cells were examined using cell counting kit-8, colony formation, wound-healing, Transwell, and tube formation assays, respectively. The levels of FHL1, vascular endothelial growth factor (VEGF), p53, E-cadherin, N-cadherin, and vimentin were quantified using western blotting and qRT-PCR.
Results:
FHL1 expression was downregulated in BC tissues and cells, whereas miR-183-5p and miR-96-5p were upregulated in BC tissues (negative correlation with FHL1 expression).FHL1 overexpression inhibited the viability, colony number, migration, and invasion of BC cells and the expression of VEGF, N-cadherin, and vimentin, and increased the expression of FHL1, p53, and E-cadherin in BT549 cells. Furthermore, a miR-183-5p mimic reversed these effects of FHL1 overexpression, whereas FHL1 silencing caused opposite results to those observed in MDA-MB-231 cells; however, this was reversed by a miR-183-5p inhibitor.
Conclusion
Our study suggests that miR-183-5p promotes cell proliferation, metastasis, and angiogenesis by negatively regulating FHL1 in BC.
7.Correlation between nephropathy score and hormone threapy in minimal change disease
Hui WANG ; Mei-Hong YAO ; Ming-Yue WANG ; De-Hua ZENG ; Ye-Ting ZENG ; Min LI ; Zhi-Yong ZHENG
Chinese Journal of Clinical and Experimental Pathology 2019;35(2):173-177
Purpose To observe the clinical characteristics, expression of C4d and the morphology of podocyte lesions in steroid-sensitive minimal change disease (SS-MCD) ,steroidresistant minimal change disease (SR-MCD) and early focal segmental glomerulosclerosis (E-FSGS) ,as well as to analyze their differences among the three groups,and provide a novel method for effective evaluation the therapeutic effects of steroid and diagnosis of SR-MCD. Methods To study the clinical data from 24 cases of SS-MCD,30 cases of SR-MCD and 25 cases of E-FSGS as control,and all the biopsies were examined by light microscopy,immunohistochemistry and transmission electron microscopy. Meanwhile,the clinical characteristics,the morphology of podocyte lesion and the expression of C4d were observed. Results The average score of podocyte lesion of SR-MCD was higher than that of SS-MCD,but lower than that of E-FSGS (P< 0. 05) . C4d positive average score of SS-MCD was lower than that of both SR-MCD and E-FSGS (P < 0. 05) ,but there was no significant difference between SR-MCD and E-FSGS (P > 0. 05) . The sum of the average score of podocyte lesion and C4d positive average score of SS-MCD was lower than that of SRMCD and E-FSGS (P < 0. 01) ,however,there was also no significant difference between SR-MCD and E-FSGS(P > 0. 05) . The scores of IgM,C3d and C1q were not significantly different among the three groups. The area under the receiver operating curve (ROC) of the C4d positive score,podocyte lesion score and the sum of the two were 0. 753,0. 658 and 0. 803,respectively, and there was no significant difference between them and the optimal cutoff values were 3,1. 5,and 4. 5 points,respectively. Conclusions The C4d positive score,podocyte lesion score and the sum of the two scores of MCD (the last one is named for MCD nephropathy score in our study) can be used for evaluating the therapeutic effects of steroid and identification of SR-MCD,most especially MCD nephropathy score. The optimal cut-off values of the three kinds of scores are 3,1. 5,and 4. 5 points,respectively. When the values are exceeded,the clinicians should be reminded to follow-up and take appropriate treatment measures to patients.
8.Comparison of domestic video intubationscope and Macintosh direct laryngoscope in nasal intubation
Zeng-Ting LU ; Qi-Tao HE ; Ze-Hua TU ; Li-Xun WANG ; Rui-Yu LI ; Hao-Xiang HU ; Qian-Lin YE ; Jia-Liang YE
China Journal of Endoscopy 2018;24(4):17-22
Objective To compare the clinical effect of nasal intubation with domestic video intubationscope and Macintosh direct laryngoscope. Methods One hundred patients scheduled for oro-maxillo-facial operation, American Society of Anesthesiologists (ASA) grade I or II, aged 19 ~ 67 years, were randomly divided into the domestic video intubationscope group (group V) and the Macintosh direct laryngoscope group (group M), with 50 cases in each group. Nasal intubation was respectively performed with domestic video intubationscope (Group V) and Macintosh direct laryngoscope (group M). Cormark-Lehane grade (C-L classification), tracheal intubation time, first-time intubation success rate and tracheal intubation complications were recorded.Mean arterial pressure (MAP) and heart rate (HR) of before induction of anesthesia (T0), after induction of anesthesia (T1), at glottic exposure (T2), at intubation (T3), 1 min after intubation (T4) and 3 min after intubation (T5) were recorded. Results C-L classification in group V was significantly lower than that in group M (P < 0.05), intubation time in group V was significantly shorter than that in group M (P < 0.05), first-time intubation success rate in group V was significantly higher than that in group M (P < 0.05). Compared with T1, MAP was significantly higher at T3~ T4and HR was significantly faster at T3in group V, MAP was significantly higher at T2~ T4and HR was significantly faster at T2~ T3in group M (P < 0.05). Compared with group M, MAP and HR in group V were significantly lower at T2~ T4 (P < 0.05). The incidence of tracheal intubation complications in group V was significantly lower than that in group M (P < 0.05). Conclusions Compared with Macintosh direct laryngoscope,domestic video intubationscope in nasal intubation is better in glottic exposure,it could shorten tracheal intubation time ,increase first-time intubation success rate, maintain stable hemodynamics, has fewer tracheal intubation complications and is worthy of clinical application.
9.Comparison of domestic infantile type video intubationscope and stethoscope in positioning of double-lumen endobronchial tube
Lu ZENG-TING ; Cai YONG-HONG ; Wang LI-XUN ; Tu ZE-HUA ; Hu HAO-XIANG ; Ye QIAN-LIN ; Zhang KANG-CONG
China Journal of Endoscopy 2017;23(10):6-10
Objective To compare the effect of the domestic infantile type video intubationscope (VIS) and stethoscope in positioning of double-lumen endobronchial tube (DLT). Methods 100 cases of patients underwent elective thoracic surgery requiring single lung ventilation were randomly divided into two groups: domestic infantile type video intubationscope group (group V) and stethoscope group (group S), with 50 cases in each. After intubating with a DLT, the positions of DLT were judged and adjusted by VIS (group V) and stethoscope (group S) respectively, and then reviewed by fiberoptic bronchoscopy (FOB), the positioning time and accuracy were recorded. Results Comparing with the group S, the positioning time of DLT was significantly shorter and the total positioning accuracy of DLT was significantly higher in group V (P < 0.05). Conclusion It is easy and quickly, high accuracy with domestic infantile type video intubationscope in positioning of DLT, which is worthy of clinical popularization and application.
10.Preimplantation Genetic Diagnosis of X-linked Severe Combined Immunodeficiency
tao Hai WU ; ting Xiao SHEN ; jian Qing YE ; liang Yu LIU ; ping Yi ZHONG ; hong Yan ZENG ; wen Yan XU ; quan Can ZHOU
Journal of Sun Yat-sen University(Medical Sciences) 2017;38(6):955-960
[Objective]To establish a reliable and accurate preimplantation genetic diagnosis (PGD)method using multiple dis?placement amplification (MDA), which can be applied to the diagnosis of X-linked severe combined immunodeficiency disease (X-SCID).[Methods]Haplotype analysis for the X-SCID family was performedusing five short tandem repeats (STR) markers flanking the both sides of the interleukin-2 (IL-2) receptor gamma chain (IL2RG) gene. MDA technique was used for single-cell whole genomic amplification. The products were used as template in polymerase chain reaction (PCR) of informative STR markers found by linkage analysis for haplotype analysis as well as sequencing of the IL2RG gene exon 5.The amelogenin (AMEL) locus was used to do sex diag?nosis.[Results]Linked analysis revealed 3 STR markers were informative. The method was evaluated with 10 single lymphocytes and 10 single blastomeres. MDA was successful in all single cell. The detection efficiency of gene sequencing of pathogenic IL 2RG exon5 was 100%. The PCR efficiency of 3 STR informative markers and AMEL was 96.3%(77/80)and the average allele drop-out (ADO) rate was 11.5%(7/61). A cycle of PGD was performed on the family, and seven embryos were diagnosed, two of which were normal embry?os. Twin pregnancy occurred after transplantation which were given a healthy baby boy and a healthy baby girl.[Conclusion]In this study, multiple displacement amplification combined with specific amplification/sequencing of pathogenic gene and haplotype analysis in the single cell level of X-linked severe combined immunodeficiency disease were performed. The protocol can avoid misdiagnosis caused by contamination and ADO, and improve the diagnostic efficiency of PGD.