2.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
;
Transaminases
;
genetics
3.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
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etiology
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Humans
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Hypoglycemia
;
etiology
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Male
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Multiple Acyl Coenzyme A Dehydrogenase Deficiency
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diagnosis
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Muscle Weakness
;
etiology
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.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
7.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
8.Effect of xuebijing oral effervescent tablet on endotoxin induced fever and disseminated intravascular coagulation rabbit model.
Shan-Shan GUO ; Ying-Jie GAO ; Xue-Chuan TIAN ; Ya-Hong JIN ; Fang-Zhou LIU ; Xiao-Lan CUI
Acta Pharmaceutica Sinica 2013;48(8):1241-1246
In order to discover the mechanism of Xuebijing oral effervescent tablet (XBJOET) to treat infectious diseases, the effect of XBJOET on endotoxin induced rabbit fever and disseminated intravascular coagulation (DIC) was investigated. Auricle microcirculation in rabbit was detected by laser speckle blood perfusion imager system; coagulation function was measured by coagulation analyzer, fibrinolytic system was quantified by Elisa assay and micro thrombosis in tissues was observed with HE staining under light microscope. The results demonstrated that the body temperature of rabbit decreased significantly at 1-3 h after administration with 4.8, 2.4 and 1.2 g x kg(-1) XBJOET to endotoxin induced DIC rabbit model, the auricle microcirculation blood flow in model group (54.45 +/- 14.53) PU was lower than that in control group (77.18 +/- 12.32) PU. The auricle microcirculation blood flow increased markedly and there was significant difference between model group and 1.2 g x kg(-1) XBJOET group. There was significant difference between model group and control group in the content of PAI1 and FIB. The PAI1 levels in model and control groups were (30.48 +/- 2.46) ng x mL(-1) and (20.93 +/- 3.25) ng x mL(-1), respectively. The FIB levels in model and control group were (3.34 +/- 1.09) g x L(-1) and (4.84 +/- 1.10) g x L(-1), respectively. The content of PAI1 in rabbit plasma decreased notably, there were significant differences between model group and 4.8, 2.4 g x kg(-1) XBJOET groups. On the contrary the content of FIB increased. XBJOET possessed pharmacological activities of curing infectious fever and DIC, the mechanism of which is related to amelioration of microcirculation disturbance, inhibition of fibrinolytic system activation and coagulation and micro thrombosis elimination.
Administration, Oral
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Animals
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Blood Coagulation
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drug effects
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Body Temperature
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drug effects
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Disseminated Intravascular Coagulation
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blood
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chemically induced
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Drugs, Chinese Herbal
;
administration & dosage
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pharmacology
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Ear Auricle
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blood supply
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Endotoxins
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Female
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Fever
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chemically induced
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drug therapy
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physiopathology
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Fibrinogen
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metabolism
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Male
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Microcirculation
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Partial Thromboplastin Time
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Plasminogen Activator Inhibitor 1
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blood
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Prothrombin Time
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Rabbits
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Tablets
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Thrombosis
;
pathology
9.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
10.Relationship between aryl hydrocarbon receptor G1661A gene polymorphism and level of urinary 1-hydroxypyrene of coke oven workers.
Hong-mei ZHANG ; Cui-e XUE ; Jie ZHAO ; Ji-sheng NIE ; Ping ZENG ; Jian-ya SUN ; Qiao NIU
Chinese Journal of Industrial Hygiene and Occupational Diseases 2008;26(1):20-23
OBJECTIVETo study the relationship between polymorphism of aryl hydrocarbon receptor (AhR) gene in G1661A and the level of urinary 1-hydroxypyrene among coke oven workers.
METHODS295 male subjects were studied, including 214 workers working in coke oven plant and 81 controls working in raw material plant who were not generally exposed to polycyclic aromatic hydrocarbons occupationally. General in-formation of subjects were collected in a specific questionnaire including age, smoking and drinking habits, the history of occupation and so on. The AhR genotypes were detected by allele specific amplification (ASA), and the levels of urinary 1-hydroxypyrene were measured by high performance liquid chromatography with a fluorescence detector.
RESULTSThe frequencies of G/G, G/A and A/A genotype were 52.8% (113/214), 27.6% (59/214) and 19.6% (42/214) in exposed group and 67.9% (55/81), 19.8% (16/81) and 12.3% (10/81) in control group, respectively. No significant difference was found in three genotypes between the exposed and control group. Allele frequencies of G and A were 66.6% (285/428) and 33.4% (143/428) in exposed group and 77.8% (126/162) and 22.2% (36/162) in control group, and no statistical differences were found in allele frequency between exposed and control group. After the length of service and external exposure orders in general linear model were adjusted, results of covariance analysis showed that logarithmic transformed urinary 1-hydroxypyrene levels were (3.62 +/- 0.12), (3.43 +/- 0.12) and (3.44 +/- 0.08) micromol/mol Cr in individuals with A/A, G/A and G/G, respectively. The logarithmic transformed urinary 1-hydroxypyrene levels were (3.24 +/- 0.09) and (3.43 +/- 0.10) micromol/mol Cr in individuals with allele of G and A. No statistical differences were found in level of 1-hydroxypyrene among A/A, G/A and G/G genotype individuals, and between allele G and allele A after external exposure orders and length of service were adjusted.
CONCLUSIONThe polymorphism of aryl hydrocarbon receptor G1661A has no significant impact on levels of urinary 1-hydroxypyrene.
Adult ; Coke ; Genotype ; Humans ; Male ; Middle Aged ; Polymorphism, Genetic ; Pyrenes ; pharmacokinetics ; Receptors, Aryl Hydrocarbon ; genetics ; Urine ; chemistry