1.Rhabdomyolysis and respiratory insufficiency due to the common ETFDH mutation of c.250G>A in two patients with late-onset multiple acyl-CoA dehydrogenase deficiency
Chen HAI-ZHU ; Jin MING ; Cai NAI-QING ; Lin XIAO-DAN ; Liu XIN-YI ; Xu LIU-QING ; Lin MIN-TING ; Lin FENG ; Wang NING ; Wang ZHI-QIANG ; Xu GUO-RONG
Chinese Medical Journal 2019;132(13):1615-1618
2.Determination of GATA-4 in the testis of the mouse.
Jia-Zhou YANG ; Yu-Feng ZHAO ; Yan-Mei WANG ; Cai-Xia JING ; Nai-Zhou MIAO ; Qing-Yan AI
National Journal of Andrology 2010;16(10):901-904
OBJECTIVETo explore the characteristics and distribution of GATA-4 in the testis of male mice.
METHODSParaffin sections were obtained from the testes of 24 male B6SJLF1/J mice, aged 0 day (n = 6), 2 weeks (n = 6), 4 weeks (n = 6) and 6 weeks (n = 6), and the expressions of GATA-4 in the testis were observed by the immunohistochemical ABC method and DAB visualization at different times.
RESULTSPositive expressions of GATA4 were found in the Sertoli cells and Leydig cells of all the mice, but significantly higher in the 4- and 6-week-old than in the 0-day and 2-week-old groups (P < 0.01). And they were also observed in the germ cells of the 4- and 6-week-old mice, significantly higher in the latter than in the former (P < 0.01).
CONCLUSIONGATA-4 exists in the testis of male mice, which has provided a morphological base for sex determination and differentiation and hormone regulation in the testis.
Animals ; Cell Differentiation ; GATA4 Transcription Factor ; metabolism ; Germ Cells ; metabolism ; Leydig Cells ; metabolism ; Male ; Mice ; Sertoli Cells ; metabolism ; Testis ; cytology ; metabolism
3.The GATA family in reproduction.
Cai-xia JING ; Jia-zhou YANG ; Qing-yan AI ; Nai-zhou MIAO ; Yu-feng ZHAO ; Yan-mei WANG
National Journal of Andrology 2009;15(10):932-936
The GATA family proteins are a group of zinc finger transcription factors that are expressed in human and mammalian animals and play an important role in mammalian organ morphogenesis, cell proliferation and sex differentiation. GATA-4 and GATA-6 have been identified in the ovaries and testes of humans, mice, pigs and chickens. GATA-4 contributes to fetal male gonadal development by regulating the genes that mediate Müllerian duct regression and the onset of testosterone production. GATA-4 and GATA-6 are localized in and regulate the function of the ovarian and testicular somatic cells of fetal mice, especially granulosa cells, thecal cells, Sertoli cells and Leydig cells. GATA-4 is also present in the germ cells of fetal and prepubertal mice.
Animals
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Chickens
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Female
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GATA4 Transcription Factor
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metabolism
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GATA6 Transcription Factor
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metabolism
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Humans
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Male
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Mice
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Ovary
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embryology
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Reproduction
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Swine
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Testis
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embryology
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Transcription Factors
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classification
4.Study on the associated risk factors of rheumatic pain: a ILAR-China, WHO COPCORD Shantou study.
Qing-yu ZENG ; Zheng-yu XIAO ; Su-biao CHEN ; Ren CHEN ; Qiu-qiang LIN ; Qing-wen WANG ; Shao-bi HUANG ; Su-he XIE ; Kun LIN ; Jing-cai XU ; Nai-Zheng ZHANG
Chinese Journal of Epidemiology 2005;26(9):711-715
OBJECTIVETo validate the difference on the prevalence of rheumatic symptoms between north and south parts of the country and to study the associated risk factors of rheumatic complaints in Shantou city, China.
METHODSA total number of 10 638 people at above 16 years of age from four samples, were surveyed in 1987, 1992, 1995, and 1999. Protocol of International League Against Rheumatism (ILAR)-China collaborative study or WHO-ILAR community oriented program for control of rheumatic disease(COPCORD) core questionnaire was implemented. Data on related rheumatic symptoms were collected and analyzed.
RESULTSThe prevalence rate of rheumatic complaints had been increasing in Shantou area during the last decade (in 1987 11.6%, 1992 12.5%, 1995 16.0% and 1999 19.8%) but still lower than that seen in Beijing, China in 1987(40.0%). Rheumatic symptoms were more prevalent in females than in males, in elderly than in young people with most frequently involved site happened in low back area, followed by knee and neck. Lumbar pain was more frequent among rural residents, while neck pain was more prevalent in urban school students. Prevalence of knee pain was significantly higher in people living in multi-storey buildings without elevator than those living in single-storey houses. The peak values of Bone Mineral Density in Shantou population were (0.839 +/- 0.085) g/cm2 in men, and (0.723 +/- 0.064) g/cm2 in women, significantly higher than that reported in 13 other provinces and cities including Beijing. The sense of seeking for medical help was higher in population with higher prevalence of rheumatic symptoms than that in lower complaints group. However, no significant difference was found in the rates of disability among the different populations.
CONCLUSIONThe prevalence rate of rheumatic complaints was lower in Shantou than that in Beijing. Socio-economic status, environment, sex, age, occupation, ergonomics, bone mineral density, and awareness of seeking medical care might have been the associated risk factors to the prevalence of rheumatic complaints.
Adult ; Age Distribution ; Aged ; China ; Female ; Humans ; International Cooperation ; Male ; Middle Aged ; Pain ; epidemiology ; pathology ; Pain Management ; Residence Characteristics ; statistics & numerical data ; Rheumatic Diseases ; epidemiology ; pathology ; therapy ; Risk Factors ; Sex Distribution ; Surveys and Questionnaires ; World Health Organization
5.A "Triple Trouble" Case of Facioscapulohumeral Muscular Dystrophy Accompanied by Peripheral Neuropathy and Myoclonic Epilepsy.
Xiao-Dan LIN ; Jun-Jie HE ; Feng LIN ; Hai-Zhu CHEN ; Liu-Qing XU ; Wei HU ; Nai-Qing CAI ; Min-Ting LIN ; Ning WANG ; Zhi-Qiang WANG ; Guo-Rong XU
Chinese Medical Journal 2018;131(18):2164-2171
BackgroundFacioscapulohumeral muscular dystrophy (FSHD) is characterized by asymmetric muscular deficit of facial, shoulder-girdle muscles, and descending to lower limb muscles, but it exists in several extramuscular manifestations or overlapping syndromes. Herein, we report a "complex disease plus" patient with FSHD1, accompanied by peripheral neuropathy and myoclonic epilepsy.
MethodsStandard clinical assessments, particular auxiliary examination, histological analysis, and molecular analysis were performed through the new Comprehensive Clinical Evaluation Form, pulsed-field gel electrophoresis-based Southern blot, Multiplex Ligation-dependent Probe Amplification (MLPA), whole exome sequencing (WES), and targeted methylation sequencing.
ResultsThe patient presented with mild facial weakness, humeral poly-hill sign, scapular winging, peroneal weakness, drop foot, pes cavus, and myoclonic epilepsy. Furthermore, electrophysiology revealed severely demyelinated and axonal injury. The muscle and nerve biopsy revealed broadly fiber Type II grouping atrophy and myelinated nerve fibers that significantly decreased with thin myelinated fibers and onion bulbs changes. Generalized sharp and sharp-slow wave complexes on electroencephalography support the diagnosis toward myoclonic epilepsy. In addition, molecular testing demonstrated a co-segregated 20-kb 4q35-EcoRI fragment and permissive allele A, which corresponded with D4Z4 hypomethylation status in the family. Both the patient's mother and brother only presented the typical FSHD but lacked overlapping syndromes. However, no mutations for hereditary peripheral neuropathy and myoclonic epilepsy were discovered by MLPA and WES.
ConclusionsThe present study described a "tripe trouble" with FSHD, peripheral neuropathy, and myoclonic epilepsy, adding the spectrum of overlapping syndromes and contributing to the credible diagnosis of atypical phenotype. It would provide a direct clue on medical care and genetic counseling.
Adult ; Child ; Epilepsies, Myoclonic ; complications ; Evoked Potentials, Visual ; Humans ; Male ; Muscle, Skeletal ; Muscular Dystrophy, Facioscapulohumeral ; complications ; Peripheral Nervous System Diseases ; complications
6.Efficacy of Moxifloxacin against in Zebrafish Model .
Wen Juan NIE ; Zhong Yao XIE ; Shan GAO ; Tian Lu TENG ; Wen Qiang ZHOU ; Yuan Yuan SHANG ; Wei JING ; Wen Hui SHI ; Qing Feng WANG ; Xue Rui HUANG ; Bao Yun CAI ; Jun WANG ; Jing WANG ; Ru GUO ; Qi Ping GE ; Li Hui NIE ; Xi Qin HAN ; Ya Dong DU ; Nai Hui CHU
Biomedical and Environmental Sciences 2020;33(5):350-358
Objective:
Moxifloxacin (MFX) shows good activity against and can be a possible antibiotic therapy to treat infection; however, other studies have shown a lower or no activity. We aimed to evaluate MFX activity against using zebrafish (ZF) model .
Methods:
A formulation of labeled with CM-Dil was micro-injected into ZF. Survival curves were determined by recording dead ZF every day. ZF were lysed, and colony-forming units (CFUs) were enumerated. Bacteria dissemination and fluorescence intensity in ZF were analyzed. Inhibition rates of MFX and azithromycin (AZM, positive control) were determined and compared.
Results:
Significantly increased survival rate was observed with different AZM concentrations. However, increasing MFX concentration did not result in a significant decrease in ZF survival curve. No significant differences in bacterial burdens by CFU loads were observed between AZM and MFX groups at various concentrations. Bacterial fluorescence intensity in ZF was significantly correlated with AZM concentration. However, with increasing MFX concentration, fluorescence intensity decreased slightly when observed under fluorescence microscope. Transferring rates at various concentrations were comparable between the MFX and AZM groups, with no significant difference.
Conclusion
MFX showed limited efficacy against using ZF model. Its activity needs to be confirmed.
Animals
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Anti-Bacterial Agents
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pharmacology
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Disease Models, Animal
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Moxifloxacin
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pharmacology
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Mycobacterium Infections, Nontuberculous
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drug therapy
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Mycobacterium abscessus
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drug effects
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Zebrafish