2.Paroxysmal muscle weakness, liver enlargement, and hypoglycemia in a boy.
Ya-Jie CUI ; Chun-Lan SONG ; Yi-Bing CHENG
Chinese Journal of Contemporary Pediatrics 2017;19(10):1104-1108
A boy aged 11 years was admitted due to intermittent weakness and difficulty in walking for 6 years, and hepatomegaly, glycopenia and unconsciousness for 4 years. The laboratory examinations showed severe metabolic acidosis, hypoglycemia, and abnormal liver function. CT scan showed marked liver enlargement with fat density shadow. The boy was given fluid infusion, correction of acidosis, intravenous injection of glucose, L-carnitine, compound vitamin B, and coenzyme Q10, but he was in a persistent coma and it was difficult to correct refractory metabolic acidosis and hypoglycemia. The boy died. Blood and urinary organic acid screening and gene detection confirmed that the boy had late-onset glutaric aciduria type II (GAIIc) caused by electron-transferring-flavoprotein dehydrogenase (ETFDH) gene defect. GAIIc is an inherited metabolic disease with a low incidence, resulting in a high misdiagnosis rate. GAIIc should be considered for children with recurrent weakness or reduced activity endurance, hypoglycemia, and marked liver enlargement with abnormal liver function. Urinary organic acid analysis and blood tandem mass spectrometry can help with the early diagnosis of GAIIc, and ETFDH gene analysis helps to make a confirmed diagnosis.
Child
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Hepatomegaly
;
etiology
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Humans
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Hypoglycemia
;
etiology
;
Male
;
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
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diagnosis
;
Muscle Weakness
;
etiology
3.Oliguria and acute renal dysfunction in a six-month-old infant.
Ya-Jie CUI ; Chun-Lan SONG ; Yi-Bing CHENG
Chinese Journal of Contemporary Pediatrics 2017;19(2):203-207
The infant (a girl aged 6 months) was admitted to the hospital because of oliguria and acute renal dysfunction. The laboratory examination results showed serious metabolic acidosis and increased blood urea nitrogen and serum creatinine levels. The patient continued to be anuric after 10 days of treatment with continuous renal replacement therapy (CRRT). she died a day later. The family history showed that the patient's sister died of acute renal failure 6 months after birth. The genomic sequencing results showed AGXT mutation in the patient and confirmed the diagnosis of primary hyperoxaluria type 1 (PH1). Her parents were heterozygous carriers. PH1 should be considered when the children have abnormal renal function or recurrent renal calculi or have a family history of these symptoms. AGXT gene analysis is an important method for PH1 diagnosis.
Acute Kidney Injury
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etiology
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Female
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Humans
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Hyperoxaluria, Primary
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complications
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Infant
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Mutation
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Oliguria
;
etiology
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Transaminases
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genetics
4.Role of MiR-20a-3p in Axonal Repair in Rats with Spinal Cord Injury
Yan-jun ZHANG ; Zhi-jie WANG ; Tian-yi WANG ; Xue-ming CHEN ; Li-bin CUI ; Song-jie XU ; Xin YUAN ; Ya-dong LIU ; Peng ZHAO ; Qi-chao WU ;
Chinese Journal of Rehabilitation Theory and Practice 2019;25(3):307-313
Objective:To study the molecular biology mechanisms of Wistar rats after spinal cord injury, and find out key microRNAs. Methods:A total of 15 Wistar rats were divided into control group (
5.Myocardial protective effect of L-carnitine in children with hand, foot and mouth disease caused by Coxsackie A16 virus.
Ya-Jie CUI ; Chun-Lan SONG ; Fang CHEN ; Peng LI ; Yi-Bing CHENG
Chinese Journal of Contemporary Pediatrics 2017;19(8):908-912
OBJECTIVETo investigate the myocardial protective effect of L-carnitine in children with hand, foot and mouth disease (HFMD) caused by Coxsackie A16 virus and possible mechanisms.
METHODSA total of 60 HFMD children with abnormal myocardial enzyme after Coxsackie A16 virus infection were enrolled and randomly divided into L-carnitine group and fructose-1,6-diphosphate group (fructose group), with 30 children in each group. The two groups were given L-carnitine or fructose diphosphate in addition to antiviral and heat clearance treatment. Another 30 healthy children who underwent physical examination were enrolled as control group. The changes in myocardial zymogram, malondialdehyde (MDA), superoxide dismutase (SOD), and apoptosis factors sFas and sFasL after treatment were compared between groups.
RESULTSThere was no significant difference in treatment response between the L-carnitine group and the fructose group (P>0.05). One child in the fructose group progressed to critical HFMD, which was not observed in the L-carnitine group. Before treatment, the L-carnitine group and the fructose group had significantly higher indices of myocardial zymogram and levels of MDA, sFas, and sFasL and a significantly lower level of SOD than the control group (P<0.05), while there were no significant differences in these indices between the L-carnitine group and the fructose group (P>0.05). After treatment, the L-carnitine group and the fructose group had significant reductions in the indices of myocardial zymogram and levels of MDA, sFas, and sFasL and a significant increase in the level of SOD (P<0.05); the fructose group had a significantly higher level of creatine kinase (CK) than the control group and the L-carnitine group, and there were no significant differences in other myocardial enzyme indices, MDA, sFas, and sFasL between the L-carnitine group and the fructose group, as well as between the L-carnitine and fructose groups and the control group (P>0.05). SOD level was negatively correlated with aspartate aminotransferase, lactate dehydrogenase (LDH), CK, and creatine kinase-MB (CK-MB) (r=-0.437, -0.364, -0.397, and -0.519 respectively; P<0.05), and MDA level was positively correlated with LDH and CK-MB (r=0.382 and 0.411 respectively; P<0.05).
CONCLUSIONSL-carnitine exerts a good myocardial protective effect in children with HFMD caused by Coxsackie A16 virus, possibly by clearing oxygen radicals and inhibiting cardiomyocyte apoptosis.
Carnitine ; therapeutic use ; Child, Preschool ; Coxsackievirus Infections ; complications ; Female ; Hand, Foot and Mouth Disease ; drug therapy ; etiology ; metabolism ; Heart ; drug effects ; Humans ; Infant ; Male ; Malondialdehyde ; analysis ; Myocardium ; metabolism ; pathology ; Superoxide Dismutase ; metabolism
6.The expression of platelet-derived growth factor (PDGF) receptor-beta and its correlation with extracellular matrix in hepatic tissue in hepatic fibrosis rats.
Cui-hua LU ; Yue-xiang CHEN ; Zhong-bing ZHANG ; Wei-fen XIE ; Jie-fei HUANG ; Run-zhou NI ; Ya-jun GUO ; Li-xin WEI ; You-xin JIN
Chinese Journal of Hepatology 2004;12(11):663-665
OBJECTIVETo investigate the expression of PDGF receptor-beta and its correlation with extracellular matrix in hepatic tissue during hepatic fibrosis.
METHODSThe model of hepatic fibrosis in rats was induced by carbon tetrachloride. PDGF receptor-beta subunit, collagen I, collagen III and a-SMA in hepatic tissues of these rats were examined using immunohistochemistry. The correlation between PDGF receptor-beta subunit and collagen I, III was analyzed using SAS software after the results of immunohistochemistry were semi-quantified.
RESULTSPDGF receptor-beta subunit and a-SMA were not detected in normal controls. Collagen I and III were distributed in the portal tracts and beneath the endothelia of the central veins and of the Disse spaces. Two weeks after CCl4 injection, the PDGF receptor-beta and a-SMA were detected, and the expression of collagen I and III increased. At the end of 4 and 6 weeks, the above four proteins were further increased. Two weeks after CCl4 injection, PDGF receptor-beta had no apparent correlation with collagen I and III. However, PDGF receptor-beta had a significant correlation with collagen I and III 2 weeks later, and the correlation coefficient was 0.74 and 0.60 respectively at 4 weeks, and 0.83 and 0.67 respectively at 6 weeks. PDGF receptor-beta had a significant correlation with a-SMA during the whole process of hepatic fibrosis and the correlation coefficient was 0.62, 0.69 and 0.81, respectively at the time of 2, 4 and 6 weeks after CCl4 injection.
CONCLUSIONThe PDGF receptor-beta was overexpressed during the process of hepatic fibrosis development, and it significantly correlated with collagen I and collagen III.
Animals ; Carbon Tetrachloride ; Carbon Tetrachloride Poisoning ; Collagen Type I ; biosynthesis ; genetics ; Collagen Type III ; biosynthesis ; genetics ; Extracellular Matrix ; metabolism ; Liver ; metabolism ; Liver Cirrhosis, Experimental ; chemically induced ; metabolism ; Male ; Rats ; Rats, Sprague-Dawley ; Receptor, Platelet-Derived Growth Factor beta ; biosynthesis ; genetics
7.Evaluation of 80-W and 120-W GreenLight laser vaporization for benign prostatic hyperplasia in high-risk patients.
Ya-Chen ZANG ; Yu-Xi SHAN ; Bo-Xin XUE ; Dong-Rong YANG ; Jie GAO ; Chuan-Yang SUN ; Yong CUI
National Journal of Andrology 2012;18(5):436-440
OBJECTIVETo investigate and compare the effectiveness and safety of 80-W GreenLight laser vaporization and GreenLight high-performance system (HPS) 120-W laser vaporization for the treatment of benign prostatic hyperplasia (BPH) in high-risk patients.
METHODSWe allocated 290 high-risk patients with BPH to two groups to receive 80-W (n = 220) and HPS 120-W GreenLight laser vaporization (n = 70). We recorded and compared the pre-, intra- and post-operative clinical data of the two groups.
RESULTSThe operations were successful in both of the groups. There were statistically significant differences in the prostate volume, IPSS, Qmax and PVR before and after surgery (P < 0.01), but not between the two groups (P > 0.05). The operation time, lasing time and energy consumption were (56.5 +/- 22.6) min, (31.2 +/- 10.3) min and (159.8 +/- 29.0) kJ in the 80-W group, as compared with (45.1 +/- 20.4) min, (24.6 +/- 8.3) min and (134.2 +/- 23.3) kJ in the 120 W group, with significant differences between the two (P < 0.01).
CONCLUSIONGreenLight laser vaporization of the prostate is a safe and effective procedure for the treatment of BPH, and the new HPS 120-W laser therapy, with its advantages of easier operation and shorter surgical time, is an even better minimally invasive option for elderly high-risk patients.
Aged ; Aged, 80 and over ; Humans ; Laser Therapy ; adverse effects ; methods ; Male ; Prostatic Hyperplasia ; surgery ; Treatment Outcome
8.Alterations of CD4+CXCR5+Tfh cells and its transcription regulatory factors in children with asthma.
Ya-Jie CUI ; Guo-Hong CHEN ; Jun-Ling WANG ; Lin MA ; Xiao-Ling GUO ; Jian-Xiang LIAO ; Cheng-Rong LI ; Guo-Bing WANG
Chinese Journal of Contemporary Pediatrics 2014;16(12):1215-1219
OBJECTIVETo study the alterations of follicular T helper cells (CD4(+)CXCR5(+)Tfh cells, Tfh) on circulating T lymphocytes in children with asthma, and to study the expression of transcription regulatory factors BCL-6 and BLIMP-1 mRNA.
METHODSSixty-four children with asthma and 25 healthy controls were enrolled in this study. On the basis of the disease, the children with asthma were classified into acute phase group (n=36) and remission phase group (n=28). The flow cytometry was used to detect the proportion of CD4(+)CXCR5(+)Tfh cells on CD4(+)T lymphocytes. Real-time PCR was performed to detect the levels of BCL-6 mRNA and BLIMP-1 mRNA. The double -antibody Sandwich ELISA was used to detect plasma concentrations of total IgE, IL-2, IL-6 and IL-21.
RESULTSThe proportion of CD4(+)CXCR5(+)Tfh cells was significantly higher in the acute group than in the control group and the remission group (P<0.05). Transcription levels of BCL-6 mRNA were significantly higher, while the inhibitory factors BLIMP-1 mRNA was significantly lower in the acute group than in the remission group and control group (P<0.05). The plasma concentration of IL-6 in the acute group increased significantly compared with the control group (P<0.05). Plasma concentrations of total IgE and IL-21 increased significantly, in contrast, plasma IL-2 concentration decreased significantly in the acute group, compared with the control group and the remission group (P<0.05). Correlation analysis showed that both IL-21 and IL-6 concentrations were positively correlated with the proportion of CD4(+)CXCR5(+)Tfh cells (r=0.76, r=0.46 respectively; P<0.05), while IL-2 level was negatively correlated with the proportion of Tfh cells (r=-0.68, P<0.05).
CONCLUSIONSThe abnormal proportion of CD4(+)CXCR5(+)Tfh cells might be involved in the immunological pathogenesis of acute asthma in children. The increased expression of BCL-6 mRNA and decreased expression of BLIMP-1 mRNA as well as the alterations of plasma total IgE, cytokines IL-2, IL-6 and IL-21 in microenvironment might be account for the increased proportion of CD4(+)CXCR5(+)Tfh cells in children with acute asthma.
Asthma ; immunology ; Child ; Child, Preschool ; DNA-Binding Proteins ; genetics ; Female ; Humans ; Immunoglobulin E ; blood ; Infant ; Interleukins ; blood ; Male ; Positive Regulatory Domain I-Binding Factor 1 ; Proto-Oncogene Proteins c-bcl-6 ; RNA, Messenger ; analysis ; Receptors, CXCR5 ; analysis ; Repressor Proteins ; genetics ; T-Lymphocytes, Helper-Inducer ; immunology
9.Effects of jin chai antiviral capsule on IFITM3 expression in mice.
Ju-Ying ZHONG ; Xiao-Lan CUI ; Yu-Jing SHI ; Shan-Shan GUO ; Ying LIU ; Fang-Zhou LIU ; Ying-Jie GAO ; Ya-Hong JIN ; Hong-Xin CAO
Acta Pharmaceutica Sinica 2012;47(7):904-908
This study is to investigate the treatment of Jin Chai antiviral capsule for influenza virus FM1/47 (H1N1) infection. The model of pneumonia was established by dropping influenza virus into the nose of normal mice, real-time PCR and Western blot technique were used to detect the virus load and the interferoninducible transmembrane protein3 (IFITM3) in lung of mice at the 1st day, 3rd day, 5th day and 7th day after affected. The results showed that Jin Chai antiviral capsule in large, middle, small dose groups can decrease virus load significantly at each time point, after being affected (P<0.05, P<0.01), Jin Chai antiviral capsule can increase the interferoninducible transmembrane protein3 in lung of mice, large dose groups are significantly higher in expression of IFITM3 compared with model group at each time point (P<0.05, P<0.01). Middle dose groups are significantly higher in expression of IFITM3 compared with model group at the 3th day and the 5th day (P<0.05), small dose groups are significantly higher in expression of IFITM3 compared with model group at the 3th day (P<0.05). It can be concluded that Jin Chai antiviral capsule exerts antiviral effects against influenzavirus by raised expression of IFITM3.
Animals
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Antiviral Agents
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administration & dosage
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pharmacology
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Capsules
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Dose-Response Relationship, Drug
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Drug Combinations
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Drugs, Chinese Herbal
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administration & dosage
;
pharmacology
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Female
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Influenza A Virus, H1N1 Subtype
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drug effects
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Lung
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metabolism
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Male
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Membrane Proteins
;
metabolism
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Mice
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Mice, Inbred ICR
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Orthomyxoviridae Infections
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metabolism
;
virology
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Plants, Medicinal
;
chemistry
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Pneumonia
;
metabolism
;
virology
;
Viral Load
;
drug effects
10.Sweat function evaluation for early diagnosis of diabetic peripheral neuropathy.
Jie SHEN ; Ying CAO ; Ya-Juan HAN ; Xiang-Rong LUO ; Cui-Hua XIE ; Ji-Min LI ; Yao-Ming XUE
Journal of Southern Medical University 2007;27(8):1210-1212
OBJECTIVETo evaluate the clinical value of sweat function examination in early diagnosis of diabetic peripheral neuropathy (DPN).
METHODSNinety-eight hospitalized type 2 diabetic patients with or without DPN (DN and DC groups) according to Michigan Diabetic Neruopathy Score (DNS) and 40 healthy volunteers (NC group) were evaluated for their sweat function of the feet in relation to the peripheral autonomic nerve with sweat printing method using Neuropad. The Neuropad color-changing time was recorded to assess the sensitivity and specificity of sweat printing methods relative to DNS for DNP evaluation, and the correlation of the Neuropad color-changing time to DNS score was analyzed.
RESULTSThe average Neuropad color-changing time was 4.0-/+0.6, 4.3-/+1.2 and 23.0-/+6.1 min in NC, DC, and DN groups, respectively, showing significant differences between the 3 groups (P<0.05). The morbidity rate detected by sweat printing method was 62.2%, similar to that detected by DNS (57.1%, P>0.05). The sensitivity of the sweat printing method for DPN diagnosis was 92.8%, with specificity of 78.5%, positive predictive value of 93.2%, and negative predictive value of 78.6%. DNS showed significant positive correlation with the Neuropad color-changing time (r=0.46, P<0.05).
CONCLUSIONSweat printing method provides an objective, simple and reliable method for sweat function evaluation of the feet of type 2 diabetic patients to help in early DPN diagnosis, and quantification of the results of sweat printing method can be indicative of the DPN severity.
Case-Control Studies ; Color ; Diabetic Neuropathies ; diagnosis ; physiopathology ; Early Diagnosis ; Foot ; physiopathology ; Humans ; Male ; Middle Aged ; Sweating ; physiology ; Time Factors