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1.
Indian J Nephrol ; 33(2): 93-100, 2023.
Article in English | MEDLINE | ID: mdl-37234433

ABSTRACT

Introduction: Immune dysfunction contributes to the progression of idiopathic nephrotic syndrome (INS), but the details of the pathogenesis of progression remain unknown. This study of children with INS investigated the relationship of activation of the mechanistic target of rapamycin (mTOR) pathway (PI3K/AKT/mTOR/p70S6K) with the levels of T helper 2/regulatory T (Th2/Treg) cells. Materials and Methods: Twenty children with active INS (before steroid treatment), 20 children with remitting INS (INS-R, after steroid treatment), and 20 healthy control children (Ctrl) were enrolled. The levels of Th2/Treg cells in their peripheral circulatory systems were measured using flow cytometry, and the concentration of interleukin (IL)-4 was determined using a cytometric bead array (CBA). The levels of PI3K, AKT, mTOR, p70S6K, and transcription factors associated with Th2/Treg cells were measured using real-time polymerase chain reaction. Results: The INS group had a greater proportion of circulating Th2 cells; level of IL-4 protein; and levels of GATA, PI3K, AKT, mTOR, and p70S6K mRNAs than the Ctrl group (all P < 0.05), but a lower proportion of circulating Tregs and expression of Foxp3 (both P < 0.05). Patients in the INS-R group had normalization of these markers (all P < 0.05). Patients in the INS group had negative correlation in the percentage of Treg cells with Th2 cells and with IL-4 level and a negative correlation in the levels of GATA3 and Foxp3 mRNAs. Conclusions: Patients with active INS had an imbalance of Th2/Treg cells, which might result from the aberrant signaling of the mTOR pathway (PI3K/AKT/mTOR/p70S6K).

2.
Sichuan Da Xue Xue Bao Yi Xue Ban ; 53(2): 281-284, 2022 Mar.
Article in Chinese | MEDLINE | ID: mdl-35332730

ABSTRACT

The structure of pharmaceutical higher education in China needs to be adjusted under the guidance of Xi Jinping's new development philosophy, especially the concept of coordinated development, in order to meet the demands of the campaign to construct new medical education and to develop in coordination with the pharmaceutical industry. Based on the concept of coordinated development, we summarized herein the relationship between pharmaceutical higher education, pharmaceutical research and the pharmaceutical industry, analyzed the adaptability of pharmaceutical higher education and the pharmaceutical industry, and put forward suggestions for and implemented initially the reform of the pharmaceutical curriculum structure under the guidance of the concept of coordinated development. We hope this paper will, under the new circumstances, provide useful reference for the ongoing education reform of the curricular structure of pharmaceutical higher education and pharmaceutical research coordinated along with the development of the pharmaceutical industry.


Subject(s)
Education, Pharmacy , China , Curriculum , Drug Industry , Pharmaceutical Preparations
3.
Front Pediatr ; 9: 651544, 2021.
Article in English | MEDLINE | ID: mdl-33968853

ABSTRACT

Purpose: We investigated the pathogenesis of idiopathic nephrotic syndrome (INS) by measuring the effects two specific miRNAs on Th2 cells in children with this disease. Methods: After informed consent, we enrolled 20 children with active INS before steroid initiation, 20 children with INS in remission after steroid therapy, and 20 age-matched healthy controls. Flow cytometry was used to measure the levels of Th2 cells and a cytometric bead array was used to measure the levels of IgE, interleukin (IL)-4, and IL-13. RT-PCR was used to measure the levels of miR-24 and miR-27 in CD4+TCD25- cells. PBMCs were isolated using Ficoll density gradient centrifugation, and transfected with different mimic or inhibitor miRNAs. RT-PCR was used to measure the expression of different RNAs, and flow cytometry was used to determine the percentage of Th2 cells. Results: Relative to healthy controls, children with active INS had higher percentages of Th2 cells (P < 0.05), but there was no significant difference in controls and children in remission. The plasma levels of IgE, IL-4, and IL-13 were significantly increased in children with active INS (P < 0.05). There were lower levels of miR-24 and miR-27 in children with active non-atopic INS (P < 0.05). Transfection experiments indicated that upregulation of each miRNA decreased the percentage of Th2 cells and the level of IL-4 (P < 0.05), and down-regulation of each miRNA had the opposite effects (P < 0.05). Conclusion: Children with active INS, with or without atopy, had higher levels of IgE, possibly related to their higher levels of IL-13 and IL-4 due to a drift toward Th2 cells. miR-24 and miR-27 suppressed the expression of Th2 cells and have a critical function regulating Th2 cell expression in INS.

4.
Front Immunol ; 12: 803763, 2021.
Article in English | MEDLINE | ID: mdl-35140711

ABSTRACT

Background: Chronic granulomatous disease (CGD) is an inborn error of immunity (IEI), characterised by recurrent bacterial and fungal infections. It is inherited either in an X-linked (XL) or autosomal recessive (AR) mode. Phenome refers to the entire set of phenotypes expressed, and its study allows us to generate new knowledge of the disease. The objective of the study is to reveal the phenomic differences between XL and AR-CGD by using Human Phenotype Ontology (HPO) terms. Methods: We collected data on 117 patients with genetically diagnosed CGD from Asia and Africa referred to the Asian Primary Immunodeficiency Network (APID network). Only 90 patients with sufficient clinical information were included for phenomic analysis. We used HPO terms to describe all phenotypes manifested in the patients. Results: XL-CGD patients had a lower age of onset, referral, clinical diagnosis, and genetic diagnosis compared with AR-CGD patients. The integument and central nervous system were more frequently affected in XL-CGD patients. Regarding HPO terms, perianal abscess, cutaneous abscess, and elevated hepatic transaminase were correlated with XL-CGD. A higher percentage of XL-CGD patients presented with BCGitis/BCGosis as their first manifestation. Among our CGD patients, lung was the most frequently infected organ, with gastrointestinal system and skin ranking second and third, respectively. Aspergillus species, Mycobacterium bovis, and Mycobacteirum tuberculosis were the most frequent pathogens to be found. Conclusion: Phenomic analysis confirmed that XL-CGD patients have more recurrent and aggressive infections compared with AR-CGD patients. Various phenotypic differences listed out can be used as clinical handles to distinguish XL or AR-CGD based on clinical features.


Subject(s)
Genes, Recessive , Genes, X-Linked , Genetic Predisposition to Disease , Granulomatous Disease, Chronic/diagnosis , Granulomatous Disease, Chronic/etiology , Phenomics/methods , Phenotype , Alleles , Disease Management , Female , Genetic Association Studies , Genetic Testing , Granulomatous Disease, Chronic/complications , Granulomatous Disease, Chronic/therapy , Humans , Infections/etiology , Infections/therapy , Male , Sequence Analysis, DNA
5.
Sensors (Basel) ; 18(2)2018 Jan 26.
Article in English | MEDLINE | ID: mdl-29373550

ABSTRACT

Galloping of overhead transmission lines (OHTLs) may induce conductor breakage and tower collapse, and there is no effective method for long distance distribution on-line galloping monitoring. To overcome the drawbacks of the conventional galloping monitoring systems, such as sensitivity to electromagnetic interference, the need for onsite power, and short lifetimes, a novel optical remote passive measuring system is proposed in the paper. Firstly, to solve the hysteresis and eccentric load problem in tension sensing, and to extent the dynamic response range, an 'S' type elastic element structure with flanges was proposed. Then, a tension experiment was carried out to demonstrate the dynamic response characteristics. Moreover, the designed tension sensor was stretched continuously for 30 min to observe its long time stability. Last but not the least, the sensor was mounted on a 70 m conductor model, and the conductor was oscillated at different frequencies to investigate the dynamic performance of the sensor. The experimental results demonstrate the sensor is suitable for the OHTL galloping detection. Compared with the conventional sensors for OHTL monitoring, the system has many advantages, such as easy installation, no flashover risk, distribution monitoring, better bandwidth, improved accuracy and higher reliability.

6.
J Asian Nat Prod Res ; 20(11): 1075-1080, 2018 Nov.
Article in English | MEDLINE | ID: mdl-28944690

ABSTRACT

A new diterpenoid, 17-methyl-8, 13-labdadien-15, 16-olid-19-oic acid methyl ester (1), along with two known compounds 2 and 3, were isolated from the leaves of Platycladus orientalis (L.) Franco. The structures were confirmed based on the analysis of HR-MS, 1D-NMR, and 2D-NMR spectra and the configuration of 1 was confirmed by the single-crystal X-ray diffraction.


Subject(s)
Cupressaceae/chemistry , Diterpenes/chemistry , Plant Leaves/chemistry , Models, Molecular , Molecular Structure
7.
Sci Rep ; 7(1): 14961, 2017 11 02.
Article in English | MEDLINE | ID: mdl-29097719

ABSTRACT

Dissolved gas analysis (DGA) is widely used in monitoring and diagnosing of power transformer, since the insulation material in the power transformer decomposes gases under abnormal operation condition. Among the gases, acetylene, as a symbol of low energy spark discharge and high energy electrical faults (arc discharge) of power transformer, is an important monitoring parameter. The current gas detection method used by the online DGA equipment suffers from problems such as cross sensitivity, electromagnetic compatibility and reliability. In this paper, an optical gas detection system based on TDLAS technology is proposed to detect acetylene dissolved in transformer oil. We selected a 1530.370 nm laser in the near infrared wavelength range to correspond to the absorption peak of acetylene, while using the wavelength modulation strategy and Herriott cell to improve the detection precision. Results show that the limit of detection reaches 0.49 ppm. The detection system responds quickly to changes of gas concentration and is easily to maintenance while has no electromagnetic interference, cross-sensitivity, or carrier gas. In addition, a complete detection process of the system takes only 8 minutes, implying a practical prospect of online monitoring technology.

8.
Nanoscale Res Lett ; 11(1): 515, 2016 Dec.
Article in English | MEDLINE | ID: mdl-27882530

ABSTRACT

Dispersion stability of nanoparticles in the liquid media is of great importance to the utilization in practice. This study aims to investigate the effects of mechanical dispersion method on the dispersibility of functionalized TiO2 nanoparticles in the transformer oil. Dispersion methods, including stirring, ultrasonic bath, and probe processes, were systematically tested to verify their versatility for preparing stable nanofluid. The test results reveal that the combination of ultrasonic bath process and stirring method has the best dispersion efficiency and the obtained nanofluid possesses the highest AC breakdown strength. Specifically, after aging for 168 h, the size of nanoparticles in the nanofluid prepared by the combination method has no obvious change, while those obtained by the other three paths are increased obviously.

9.
Seizure ; 38: 17-22, 2016 May.
Article in English | MEDLINE | ID: mdl-27061881

ABSTRACT

PURPOSE: The ketogenic diet (KD) is an effective treatment for intractable epilepsy (IE), however the therapeutic mechanism is still unclear. This study was designed to investigate T helper type 17/regulatory T cell (Th17/Treg) levels in children with IE and age-matched healthy controls following KD. METHOD: Circulating levels of Th17/Treg cells were analyzed by flow cytometry. Plasma concentration of interleukin (IL)-17 was measured by cytometric bead array assay. Real-time PCR was performed to measure mRNA levels of mTOR, HIF1α and Th17/Treg associated factors in purified CD4(+)CD25(+) T and CD4(+)CD25(-) T cells. RESULTS: By one-way ANOVA, the proportion of circulating Th17 cells and expression of IL-17A and RORγt were significantly higher (P<.05), while the proportion of circulating Tregs and expression of Foxp3, GITR, CTLA-4 were significantly lower (P<.05) in IE patients than healthy subjects. However, these alternations were reversed following KD (P<.05). In CD4(+)CD25(+) T and CD4(+)CD25(-) T cells mTOR and HIF1α expression were significantly higher in IE patients (P<.05), however KD reduced mTOR and HIF1α expression (P<.05). The plasma IL-17A concentrations were higher in IE patients than controls (P<.05). KD partially reduced IL-17A levels (P<.05). CONCLUSION: Our results suggest that Th17/Treg imbalance is characteristic of childhood IE, and may contribute to IE pathogenesis. KD treatment is able to correct this imbalance, probably via inhabiting the mTOR/HIF-1α signaling pathway.


Subject(s)
Diet, Ketogenic/methods , Drug Resistant Epilepsy/blood , Drug Resistant Epilepsy/diet therapy , Interleukin-17/blood , T-Lymphocytes, Regulatory , Th17 Cells , Child , Child, Preschool , Female , Humans , Infant , Male , Treatment Outcome
10.
Rev Sci Instrum ; 86(10): 106103, 2015 Oct.
Article in English | MEDLINE | ID: mdl-26521000

ABSTRACT

A fiber Bragg grating (FBG) sensor based on chemically etched cladding to detect dissolved hydrogen is proposed and studied in this paper. Low hydrogen concentration tests have been carried out in mixed gases and transformer oil to investigate the repeatability and sensitivity. Moreover, to estimate the influence of etched cladding thickness, a physical model of FBG-based hydrogen sensor is analyzed. Experimental results prove that thin cladding chemically etched by HF acid solution improves the response to hydrogen detection in oil effectively. At last, the sensitivity of FBG sensor chemically etched 16 µm could be as high as 0.060 pm/(µl/l), increased by more than 30% in comparison to un-etched FBG.

11.
Zhongguo Dang Dai Er Ke Za Zhi ; 16(12): 1215-9, 2014 Dec.
Article in Chinese | MEDLINE | ID: mdl-25523568

ABSTRACT

OBJECTIVE: To 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. METHODS: Sixty-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. RESULTS: The 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). CONCLUSIONS: The 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.


Subject(s)
Asthma/immunology , DNA-Binding Proteins/genetics , Receptors, CXCR5/analysis , Repressor Proteins/genetics , T-Lymphocytes, Helper-Inducer/immunology , Child , Child, Preschool , 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
12.
Yao Xue Xue Bao ; 49(1): 101-5, 2014 Jan.
Article in English | MEDLINE | ID: mdl-24783514

ABSTRACT

The osmotic pressure of ammonium sulfate solutions has been measured by the well-established freezing point osmometry in dilute solutions and we recently reported air humidity osmometry in a much wider range of concentration. Air humidity osmometry cross-validated the theoretical calculations of osmotic pressure based on the Pitzer model at high concentrations by two one-sided test (TOST) of equivalence with multiple testing corrections, where no other experimental method could serve as a reference for comparison. Although more strict equivalence criteria were established between the measurements of freezing point osmometry and the calculations based on the Pitzer model at low concentration, air humidity osmometry is the only currently available osmometry applicable to high concentration, serves as an economic addition to standard osmometry.


Subject(s)
Ammonium Sulfate/chemistry , Osmometry/methods , Osmotic Pressure , Freezing , Humidity , Osmolar Concentration , Solutions
13.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 30(6): 649-53, 2013 Dec.
Article in Chinese | MEDLINE | ID: mdl-24327139

ABSTRACT

OBJECTIVE: To analyze the clinical features and SLC25A13 gene mutations of a child with citrin deficiency complicated with purpura, convulsive seizures and methioninemia. METHODS: The patient was subjected to physical examination and routine laboratory tests. Blood amino acids and acylcarnitines, and urine organic acids and galactose were analyzed respectively with tandem mass spectrometry and gas chromatographic mass spectrometry. SLC25A13 gene mutation screening was conducted by high resolution melt (HRM) analysis. RESULTS: The petechiae on the patient's face and platelet count (27×10(9)/L, reference range 100×10(9)/L-300×10(9)/L) supported the diagnosis of immunologic thrombocytopenic purpura (ITP). Laboratory tests found that the patient have abnormal coagulation, cardiac enzyme, liver function and liver enzymes dysfunction. Tandem mass spectrometry also found methionine to be increased (286 µmol/L, reference ranges 8-35 µmol/L). The patient did not manifest any galactosemia, citrullinemia and tyrosinemia. Analysis of SLC25A13 gene mutation found that the patient has carried IVS16ins3kb, in addition with abnormal HRM result for exon 6. Direct sequencing of exon 6 revealed a novel mutation c.495delA. The same mutation was not detected in 100 unrelated healthy controls. Further analysis of her family has confirmed that the c.495delA mutation has derived from her farther, and that the IVS16ins3kb was derived from her mother. CONCLUSION: The clinical features and metabolic spectrum of citrin deficiency can be variable. The poor prognosis and severity of clinical symptoms of the patient may be attributed to the novel c.495delA mutation.


Subject(s)
Amino Acid Metabolism, Inborn Errors/genetics , Calcium-Binding Proteins/deficiency , Calcium-Binding Proteins/genetics , Glycine N-Methyltransferase/deficiency , Organic Anion Transporters/deficiency , Organic Anion Transporters/genetics , Purpura/genetics , Seizures/genetics , Amino Acid Metabolism, Inborn Errors/pathology , DNA Mutational Analysis/methods , Female , Glycine N-Methyltransferase/genetics , Humans , Infant , Mitochondrial Membrane Transport Proteins/genetics , Pedigree , Purpura/pathology , Seizures/pathology
14.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 29(6): 642-7, 2012 Dec.
Article in Chinese | MEDLINE | ID: mdl-23225040

ABSTRACT

OBJECTIVE: To review clinical features of four male patients with glutaric academia type I and screen glutaryl-CoA dehydrogenase (GCDH) gene mutations. METHODS: The 4 patients underwent brain computer tomography (CT) and magnetic resonance imaging (MRI) analyses. Blood acylcarnitine and urine organic acid were analyzed with tandem mass spectrometry and gas chromatographic mass spectrometry. Genomic DNA was extracted from peripheral blood samples. The 11 exons and flanking sequences of GCDH gene were amplified with PCR and subjected to direct DNA sequencing. RESULTS: All patients have manifested macrocephaly, with head circumference measured 50 cm (14 months), 47 cm (9 months), 46 cm (5 months) and 51 cm (14 months), respectively. Imaging analyses also revealed dilation of Sylvian fissure and lateral ventricles, frontotemporal atrophy, subarachnoid space enlargement and cerebellar vermis abnormalities. All patients had elevated glutarylcarnitine (5.8 umol/L, 7.5 umol/L, 8.3 umol/L and 7.9 umol/L, respectively) and high urinary excretion of glutaric acid. Seven mutations were identified among the patients, among which c.146_149del4, IVS6-4_Ex7+4del8, c.508A>G (p.K170E), c.797T>C (p.M266T) and c.420del10 were first discovered. CONCLUSION: Macrocephaly and neurological impairment are the most prominent features of glutaric academia type I. Blood tandem mass spectrometry and urine gas chromatographic mass spectrometry analysis can facilitate the diagnosis. The results can be confirmed by analysis of GCDH gene mutations.


Subject(s)
Amino Acid Metabolism, Inborn Errors/diagnosis , Amino Acid Metabolism, Inborn Errors/genetics , Brain Diseases, Metabolic/diagnosis , Brain Diseases, Metabolic/genetics , Glutaryl-CoA Dehydrogenase/genetics , Mutation , Amino Acid Metabolism, Inborn Errors/metabolism , Amino Acid Sequence , Base Sequence , Brain Diseases, Metabolic/metabolism , Glutaryl-CoA Dehydrogenase/deficiency , Glutaryl-CoA Dehydrogenase/metabolism , Humans , Infant , Male , Molecular Sequence Data , Sequence Alignment
15.
Rheumatol Int ; 32(12): 3785-92, 2012 Dec.
Article in English | MEDLINE | ID: mdl-22187057

ABSTRACT

Helper T (Th) cells comprising Th1, Th2, Th17, and Treg are involved in the pathogenesis of various vascular inflammations, and information about Th cells in Henoch-Schonlein purpura (HSP) is still controversial. The aim of our study was to investigate the changes in CD4(+) T cell subsets and their roles in the pathogenesis of HSP. Thirty children with diagnosis of HSP and thirty age-matched healthy controls were enrolled in this study. Real-time PCR was used to evaluate the mRNA expression levels of transcriptional factors and cytokines of CD4(+) T cells. Proportions of Th1, Th2, Th17, and Treg cells in peripheral blood were detected by flow cytometry. Plasma cytokine concentrations were measured by ELISA. The proportions of Th2 and Th17 cells increased significantly in children with acute HSP (P < 0.05), while there were no significant differences between HSP and healthy controls regarding the proportions of Treg cells and Th1 cells (P > 0.05). mRNA levels of transcriptional factors and cytokines of Th2 and Th17 cells were significantly up-regulated (P < 0.05), while the differences were not significant as to those of Th1 and Treg cells (P > 0.05). Plasma concentrations of IL-17A, IL-4, and IL-6 in patients with HSP were found to be much higher than those of the control group (P < 0.05), and no differences between IFN-γ, IL-12, and TGF-ß were detected between the two groups (P > 0.05). Presence of higher proportions of Th2 and Th17 cells in patients with HSP could be closely correlated with aberrant creation of antibody and development of vessel vasculitis. The changes in cytokine milieu in peripheral blood may play an important role in the derangement of CD4(+) T cell subset.


Subject(s)
CD4-Positive T-Lymphocytes/immunology , IgA Vasculitis/immunology , T-Lymphocyte Subsets/immunology , CD4 Lymphocyte Count , CD4-Positive T-Lymphocytes/metabolism , Child , Child, Preschool , Female , Humans , IgA Vasculitis/metabolism , Interleukin-17/blood , Interleukin-4/blood , Interleukin-6/blood , Male , T-Lymphocyte Subsets/metabolism
16.
Zhongguo Dang Dai Er Ke Za Zhi ; 13(4): 303-8, 2011 Apr.
Article in Chinese | MEDLINE | ID: mdl-21507300

ABSTRACT

OBJECTIVE: Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) which resulted from mutation in SLC25A13 gene can present transient intrahepatic cholestasis, low birth weight, growth retardation, hypoproteinemia and so on. This study aimed to identify the mutation type of NICCD patients by DNA sequencing. METHODS: Twenty children diagnosed as NICCD were consented to enroll in this study. PCR assays were performed to amplify the eighteen exons and its flanking sequences of SLC25A13 gene, which were defined as the upstream and downstream 50 bp from starting and ending site of the exons. Then the PCR products were purified and followed by automated DNA sequencing. The IVS16ins3kb mutation was detected by nested PCR and RT-PCR. RESULTS: Seven genetic variations of SLC25A13, termed as 851del4, 1638ins23, IVS16ins3kb, IVS6+5G>A, c.775C>T (p.Q259X), c.1505C>T (p.P502L) and c.1311C>T (p.C437C), were identified in the subjects, of which c.775C>T (p.Q259X), c.1505C>T (p.P502L) and c.1311C>T (p.C437C) were reported for the first time in NICCD patients. And a compound mutation ofï¼»1638ins23+IVS16ins3kbï¼½was also identified. In 20 patients with NICCD, 6 patients were 851del4 homozygotes, 7 patients were compound heterozygotes, and 7 patients were heterozygotes of single mutation. 851del4 was the major mutation type (64%), followed by 1638ins23 (15%), IVS16ins3kb (12%) and IVS6+5G>A (6%). CONCLUSIONS: 851del4 is the major mutation type in Chinese patients with NICCD.


Subject(s)
Cholestasis, Intrahepatic/genetics , Mitochondrial Membrane Transport Proteins/genetics , Mutation , Female , Humans , Infant , Infant, Newborn , Male , Mitochondrial Membrane Transport Proteins/deficiency , Sequence Analysis, DNA
17.
Hum Immunol ; 72(5): 451-7, 2011 May.
Article in English | MEDLINE | ID: mdl-21315128

ABSTRACT

Tumor necrosis factor (TNF) and the TNF receptor superfamily (TNF-TNFR) plays very important roles in the pathogenesis of Kawasaki disease (KD) by leukocyte recruitment, upregulation of matrix-degrading enzymes and proinflammatory cytokines. This study aims to investigate whether potential polymorphisms in TNF receptor superfamily member 1A gene (TNFR1) are associated with KD and its effects on transcriptions activity of TNFR1. Genetic variations of TNFR1 promoter and coding regions in 132 unrelated patients with KD and 212 age-matched healthy controls recruited from a population of Chinese individuals were screened by direct sequencing. Bioinformatics analysis and function assays were performed to investigate the association between genetic variations and KD, and its effects on transcription activity of TNFR1. Five polymorphisms, termed -609T/G, -581A/G, -421G/A, -383A/C, and +36A/G, were identified in the subjects, of which -421A/G was reported for the first time. In particular, bioinformatics analysis and function assay confirmed that -609T allele resulted in allele-specific strengthening of TNFR1 transcription and was significantly associated with KD (p = 2.951E-08, odds ratio = 2.42, 95% confidence interval = 1.76-3.13). Furthermore, the haplotype TAGAA showed a relatively higher frequency in patients with KD compared with healthy controls (p = 3.446E-07, odds ratio = 2.26, 95% confidence interval = 1.65-3.11). Therefore, our results suggested that regulatory polymorphism -609T/G and the haplotype TAGAA may be related to increased susceptibility to KD in Chinese individuals.


Subject(s)
Mucocutaneous Lymph Node Syndrome/genetics , Receptors, Tumor Necrosis Factor, Type I/metabolism , Transcriptional Activation , Child , Child, Preschool , China , Female , Gene Frequency , Genetic Association Studies , Genetic Predisposition to Disease , Haplotypes , High-Throughput Nucleotide Sequencing , Humans , Infant , Male , Mucocutaneous Lymph Node Syndrome/immunology , Mucocutaneous Lymph Node Syndrome/physiopathology , Polymorphism, Genetic , Promoter Regions, Genetic/genetics , Receptors, Tumor Necrosis Factor, Type I/genetics , Regulatory Sequences, Nucleic Acid/genetics , Transcriptional Activation/genetics
18.
Zhonghua Er Ke Za Zhi ; 48(6): 469-72, 2010 Jun.
Article in Chinese | MEDLINE | ID: mdl-21055272

ABSTRACT

OBJECTIVE: CblC is the most common type of methylmalonic acidemia with homocysteinemia. MMACHC is the coding gene. This study aimed at understanding clinical features and gene mutations in 2 Chinese pedigrees who had late-onset methylmalonic acidemia complicated with homocysteinemia. METHOD: The clinical data of 2 cases were analyzed. The MMACHC gene mutation was detected using polymerase chain reaction (PCR) and DNA sequencing. RESULT: The age of onset was 13 years and 12 years, respectively. They both presented with nervous system symptoms. The main clinical features were developmental retardation and degradation, including motion, speech and intelligence. One patient complained of anemia. The other patient was misdiagnosed as having a viral encephalitis. Both patients showed remarkable elevation of methylmalonic acid and homocysteine levels in urine. Both had received therapy with vitamin B(12). The symptoms were rapidly relieved. The follow-up till now showed apparent improvement in the 2 cases. Three mutations in the MMACHC gene were found in the two Chinese pedigrees. Both patients were compound heterozygotes of two mutant alleles: one patient had a G-to-A transition at nucleotide 482 (G482A) that caused an arginine-to-glutamine substitution at position 161 of the protein (R161Q), and a deletion of AAG at nucleotide 658_660 (658_660delAAG) which resulted in lysine deleting at position 220 of the protein (K220del); the other patient had a G482A and a G-to-A transition at nucleotide 609 (G609A) that caused a tryptophan-to-termination codon substitution at position 203 of the protein (W203X). Otherwise, the authors also detected parents of two families. Each had a heterozygote of one mutation. CONCLUSION: Late-onset methylmalonic acidemia patients had a variety of clinical manifestation, the first symptom was mainly abnormality of nervous system. One case was accompanied with hematological abnormalities. Two patients were vitamin B(12) responsive. In this study, the mutations were all detected on the fourth exon, the G482A mutation was probably associated with late-onset cases.


Subject(s)
Amino Acid Metabolism, Inborn Errors/genetics , Carrier Proteins/genetics , Methylmalonic Acid/blood , Mutation , Adolescent , Asian People/genetics , Base Sequence , Child , Female , Humans , Oxidoreductases , Pedigree , Vitamin B 12
19.
Zhonghua Er Ke Za Zhi ; 48(8): 571-4, 2010 Aug.
Article in Chinese | MEDLINE | ID: mdl-21055298

ABSTRACT

OBJECTIVE: To analyze the clinical characteristics of severely and critically ill children with 2009 influenza A (H1N1) infection. METHOD: Clinical data of 150 cases with 2009 influenza A (H1N1) virus infection confirmed with the use of a real-time polymerase-chain-reaction assay on nasopharyngeal swab specimens were analyzed. RESULT: Among 150 severely and critically ill children with 2009 influenza A (H1N1) virus infection, 103 were male, 47 were female; the median age was 5 years, 81(55%) were 5 years of age or older; 21 (14%) had underlying chronic diseases. The most common presenting symptoms were fever (95%), cough (89%), vomiting (23%), wheezing (19%), abdominal pain (16%), lethargy (7%), seizures (6%), myalgia (6%), and diarrhea (6%). The common laboratory abnormalities were increased or decreased white blood cells counts (40%), elevated of CRP (33%), LDH (29%), CK (25%) and AST (19%). Clinical complications included pneumonia (65%), encephalopathy (12%), myocarditis (5%), encephalitis (1%) and myositis (1%). All patients had received antibiotics before admission or on admission; 73% of patients had received oseltamivir treatment, 23% of patients had received corticosteroids; 32 (21%) were admitted to an ICU, 13 patients were intubated and mechanically ventilated. Fourteen patients with dyspnea who were irresponsive to the treatment experienced bronchoalveolar lavage with flexible bronchoscopy, and the branching bronchial casts were removed in 5 patients. Totally 145 (97%) patients were discharged, five (3%) died, three previously healthy patients died from severe encephalopathy, one patient died from ARDS, one previously healthy patient died from secondary fungal meningitis. CONCLUSION: Severely and critically ill children with 2009 influenza A (H1N1) virus infection may occur mainly in older children without underlying chronic disease. The clinical spectrum and laboratory abnormality of the patients can have a wide range. Neurologic complications may be common and severe encephalopathy can lead to death in previously healthy children. Early use of bronchoalveolar lavage with flexible bronchoscopy may reduce death associated with pulmonary complications.


Subject(s)
Influenza, Human/pathology , Child , Child, Hospitalized , Child, Preschool , China/epidemiology , Critical Care , Critical Illness , Female , Humans , Infant , Influenza A Virus, H1N1 Subtype , Influenza, Human/diagnosis , Influenza, Human/drug therapy , Influenza, Human/epidemiology , Male
20.
Yao Xue Xue Bao ; 45(5): 647-51, 2010 May.
Article in English | MEDLINE | ID: mdl-20931770

ABSTRACT

Based on thermodynamic principle, the critical relative humidity of electrolytes is closely related to their solubility. The authors explored the relationship theoretically and calculated critical relative humidity of 21 electrolytes from their solubility in the light of Raoult's law and extended Wilson model. The results indicate that the critical relative humidity values calculated by Raoult's law can not accord with the reported ones and there is a systematic error in the high concentration range; while these calculated by extended Wilson model are comparable to the reported ones.


Subject(s)
Electrolytes/chemistry , Humidity , Solubility , Models, Chemical
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