1.Progress in research on syndromic deafness associated with variants of CREBBP gene.
Chinese Journal of Medical Genetics 2025;42(3):368-374
CREBBP gene encodes the transcriptional co-activator CREB-binding protein. This protein can participate in cell growth, differentiation and development through a variety of signal transduction pathways. Variants in this gene may cause syndromic deafness by affecting signal transduction pathways and development of skeletal and nervous systems. This review has summarized the structure and function of the CREBBP gene and the pathogenetic mechanism of syndromic deafness caused by CREBBP gene variants, with an aim to provide a basis for clinical diagnosis and treatment.
Humans
;
CREB-Binding Protein/chemistry*
;
Deafness/genetics*
;
Mutation
;
Animals
;
Syndrome
;
Signal Transduction
2.Long-term Toxicity Study of Compound Zedoary Turmeric Oil Cream for External Use in Rats
Xiaoqian ZHAO ; Ying QIAN ; Shanshan HU ; Xuan LIANG ; Mingjing ZHANG ; Zehui CHEN ; Yingbiao TIAN
China Pharmacy 2016;27(7):882-885
OBJECTIVE:To investigate toxic reaction of Compound zedoary turmeric oil cream in experimental rats with long-term consecutive transdermal administration,and to provide reference for safe use of it in the clinic. METHODS:60 SD rats were randomly divided into blank control (cream matrix) group,Compound zedoary turmeric oil cream intact skin and damaged skin low-dose and high-dose(5%,10%)groups,with 12 rats in each group,half male and half female. All of them were given relevant medicine twice a day. 92 d consecutive medication later,general situation of rats were observed,and body weight,blood routine(WBC,RBC,HGB,LYMPH,etc.)and blood biochemical indicators(AST,ALT,PA,etc.)were all detected;systemati-cal observation of organs,organ coefficient calculation and histopathology examination were carried out. RESULTS:There was no statistical significance in those indicators between Compound zedoary turmeric oil cream groups and blank control group (P>0.05),except hemoglobin decreased in intact skin low-dose group,while hemoglobin decreased,LYMPH and PA increased in dam-aged skin high-dose group(P<0.05). Pathology results showed that Compound zedoary turmeric oil cream had no significant toxici-ty for the main organs. CONCLUSIONS:Compound zedoary turmeric oil cream has no long-term toxicity to experimental rats.
3.Effects of Compound Antler capsule on NO secretion of macrophages and proliferation of T lymphocytes in mouse
Dongya CHEN ; Geyuan LI ; Ping YU ; Zhongming LV ; Mingjing YANG ; Jie LIANG
Chinese Journal of Biochemical Pharmaceutics 2015;(3):18-20,24
Objective To explore the effects of Compound Antler capsule on the NO secretion of macrophages, cell cycle and[Ca2 +]i of mouse T lymphocytes.Methods ICR mice were randomly divided into 4 groups:experimental groups were respectively given Compound Antler capsule 233, 467, 1400 mg/kg via intragastric administration once a day and the control group were given the same volume of water for 30 days.NO concentration of mouse peritoneal macrophages was measured by Griess assay.The cell cycle distribution of activated mouse spleen lymphocytes was measured by flow cytometry.Fluorescent probe Fluo 4-AM was used to mark Ca2 + in lymphocytes, and the changes of its fluorescence intensity were observed with the multiscan spectrum.Results The result showed that NO concentration in experimental groups was higher than that in control group (P<0.01).More activated spleen lymphocytes of 467, 1400 mg/kg dose groups were entried into S and G2/M phase than control group (P<0.05).After activated by ConA for 8 min, the intracellular[Ca2 +]i in mouse spleen lymphocytes of 233, 1400 mg/kg dose group was higher than that of control group, respectively (P<0.05).After activated by LPS for 1, 4, 8 min, the[Ca2 +]iin mouse spleen lymphocytes of 233 mg/kg dose group was higher than that of control group, especially at 1 min(P<0.01).Conclusion Compound Antler capsule can improve NO secretion of macrophages and facilitate the entry of mouse spleen lymphocytes from the G0/G1 into the S phase.It also can increase the [ Ca2 +] i of activated lymphocytes to promote their proliferation.Thus Compound Antler capsule can improve the immune regulating ability.
4.The prevalence and risk factors for non-suicidal self injury among middle school students
Sugai LIANG ; Jing YAN ; Cuizhen ZHU ; Mingjing SITU ; Na DU ; Yi HUANG
Chinese Journal of Behavioral Medicine and Brain Science 2014;(11):1013-1016
Objective To investigate the prevalence and risk factors of non?suicidal self injury among middle school students. Methods Data were collected from 2 140 middle school students with the mean age of 13.92 by stratified sampling method. All students were evaluated with Beck Depression Scale (BDI),Barratt Im?pulsiveness Scale ( BIS ) , Adolescent Self?Rating Life Events Check List ( ASLEC ) , Adolescents Health related Risk Behaviors Inventory ( AHRBI ) , Chinese version of Family Adaptability and Cohesion Evaluation Scales ( FACES II?CV) ,and self?made investigate questionnaire. Results The prevalence of non?suicidal self injury a?mong local middle school students was 23.2%,total 495 adolescents were endorsed non?suicidal self injury,and 49.7% were girls.The results of in multivariable logistic regression showed the main risk factors for non?suicidal self injury among adolescents were being female,depressive symptoms,impulsiveness,negative life events and health re?lated risk behaviors. Conclusion Non?suicidal self injury is high among Chinese adolescent in the city of Dujian?gyan,and it is necessary to take effective interventions.
5.Analysis in 13 315 newborns hearing screening.
Yue HUANG ; Rongjun LIANG ; Chunxiu WEN ; Jinmei GAN ; Qun LV ; Xiaoling LAN ; Mingjing JIANG ; Yuhua MO ; Xiaojuan XIE ; Xiong ZOU
Journal of Clinical Otorhinolaryngology Head and Neck Surgery 2014;28(15):1165-1167
OBJECTIVE:
Explore the model of universal NICU newborns' hearing screening in high-risk neonates, preliminary understanding factor of hearing damage.
METHOD:
Transient evoked otoacoustic emissions (TEOAE) and automatic auditory brainstem response (AABR) were used to detect newborns' hearing in 13 315 objects, that is newborns' hearing screening in NICU with TEOAE test who not pass, 42 days after will use AABR rescreening. Children's Hearing Center of Guangxi Child Health Hospital will diagnose the newborns that did not pass in 3 months.
RESULT:
In these 13 315 newborns, 5 151 subjects who did not pass the initial screening, 1910 subjects who also did not pass after 42 days, 1167 subjects cannot pass the rescreening after 3 months, 642 subjects were diagnosed congenital hearing impairment by Brainstem Auditory Evoked Potential Test, the rate is 4.82%.
CONCLUSION
TEOAE and AABR are the suitable model of universal newborns' hearing screening in high-risk neonates.
Evoked Potentials, Auditory, Brain Stem
;
Female
;
Follow-Up Studies
;
Hearing Tests
;
Humans
;
Infant, Newborn
;
Intensive Care Units, Neonatal
;
Male
;
Neonatal Screening

Result Analysis
Print
Save
E-mail