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1.
BMC Plant Biol ; 24(1): 854, 2024 Sep 12.
Artigo em Inglês | MEDLINE | ID: mdl-39266948

RESUMO

Casuarina equisetifolia trees are used as windbreaks in subtropical and tropical coastal zones, while C. equisetifolia windbreak forests can be degraded by seawater atomization (SA) and seawater encroachment (SE). To investigate the mechanisms underlying the response of C. equisetifolia to SA and SE stress, the transcriptome and metabolome of C. equisetifolia seedlings treated with control, SA, and SE treatments were analyzed. We identified 737, 3232, 3138, and 3899 differentially expressed genes (SA and SE for 2 and 24 h), and 46, 66, 62, and 65 differentially accumulated metabolites (SA and SE for 12 and 24 h). The Kyoto Encyclopedia of Genes and Genomes (KEGG) enrichment analysis showed that SA and SE stress significantly altered the expression of genes related to plant hormone signal transduction, plant-pathogen interaction, and starch and sucrose metabolism pathways. The accumulation of metabolites associated with the biosynthetic pathways of phenylpropanoid and amino acids, as well as starch and sucrose metabolism, and glycolysis/gluconeogenesis were significantly altered in C. equisetifolia subjected to SA and SE stress. In conclusion, C. equisetifolia responds to SA and SE stress by regulating plant hormone signal transduction, plant-pathogen interaction, biosynthesis of phenylpropanoid and amino acids, starch and sucrose metabolism, and glycolysis/gluconeogenesis pathways. Compared with SA stress, C. equisetifolia had a stronger perception and response to SE stress, which required more genes and metabolites to be regulated. This study enhances our understandings of how C. equisetifolia responds to two types of seawater stresses at transcriptional and metabolic levels. It also offers a theoretical framework for effective coastal vegetation management in tropical and subtropical regions.


Assuntos
Água do Mar , Estresse Fisiológico , Estresse Fisiológico/genética , Água do Mar/química , Transcriptoma , Regulação da Expressão Gênica de Plantas , Metaboloma , Plântula/genética , Plântula/fisiologia , Metabolômica , Multiômica
2.
Ecotoxicol Environ Saf ; 207: 111275, 2021 Jan 01.
Artigo em Inglês | MEDLINE | ID: mdl-32920316

RESUMO

In-situ immobilization is an effective and economically viable strategy for remediation of soil extensively polluted with heavy metals. The long-term sustainability is critical for the remediation practice. In the present study, a ten-year experiment was performed in a Cd-polluted agricultural field to evaluate the long-term stability of lime, silicon fertilizer (SF), fused calcium magnesium phosphate fertilizer (FCMP), bone charcoal, steel slag, and blast furnace slag with one-off application. All amendments had no significant effect on biomass but significantly reduced Cd uptake by Artemisia selengensis at higher dose. Among them, SF and FCMP applied at 1% could reduce Cd uptake by more than 40% to meet the Chinese maximum permissible limit for Cd content in food products (50 µg kg-1). These amendments stimulated high Cd immobilization by increasing the soil pH and decreasing the soil acid-extractable Cd content, which were closely associated with Cd uptake. In addition, the two amendments altered the soil microbial structure and stimulated metabolism pathways, including amino acid, carbohydrate, and lipid metabolism, which are beneficial for soil function and quality. The results proved that SF and FCMP at 1% are stable and ecologically safe amendments, suitable for long-term Cd immobilization, and provide a strategy to mitigate the risk of food product contamination in heavy-metal-polluted soil.


Assuntos
Cádmio/análise , Monitoramento Ambiental , Poluentes do Solo/análise , Biomassa , Cádmio/metabolismo , Compostos de Cálcio , Carvão Vegetal/química , Poluição Ambiental , Recuperação e Remediação Ambiental , Fertilizantes , Metais Pesados/química , Óxidos , Fosfatos , Solo/química
3.
Genomics ; 112(5): 3056-3064, 2020 09.
Artigo em Inglês | MEDLINE | ID: mdl-32454169

RESUMO

Here, the complete mitochondrial genome (mitogenome) of Drawida gisti was sequenced and compared with the mitogenomes of other Metagynophora species. The circular mitogenome was 14,648 bp in length and contained two ribosomal RNA genes (rRNAs), 13 protein-coding genes (PCGs), and 22 transfer RNA genes (tRNAs). The types of constitutive genes and the direction of the coding strand that appeared in Drawida mitogenome were identical to those observed in other Metagynophora species, except for a missing lengthy non-coding region. The conservative relationships between Drawida species were supported by the overall analyses of 13 PCGs, two rRNAs, and 22 tRNAs. A comparison of the Metagynophora mitogenomes revealed that the ATP8 gene possessed the highest polymorphism among the 13 PCGs and two rRNAs. Phylogenetic analysis suggested that the Moniligastridae contained Drawida, which is a primitive Metagynophora group. Our study provides a step forward toward elucidating the evolutionary linkages within Drawida and even Metagynophora.


Assuntos
Genoma Mitocondrial , Oligoquetos/genética , Animais , Composição de Bases , Uso do Códon , DNA Mitocondrial/química , Genes de RNAr , Proteínas Mitocondriais/genética , Oligoquetos/classificação , Filogenia , RNA de Transferência/química , RNA de Transferência/genética
4.
Bull Environ Contam Toxicol ; 107(6): 1236-1242, 2021 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-34164721

RESUMO

Cadmium accumulation in rice is a major source of Cd exposure in humans worldwide. A three-year field experiment was conducted to investigate the ecological safety and long-term stability of biochar combined with lime or silicon fertilizer for Cd immobilization in a polluted rice paddy. The results showed that the application of combined ameliorants could reduce the Cd content in brown rice to meet the Chinese maximum permissible limit for Cd content in food products (0.2 mg/kg). In addition, such amendments stimulated metabolic pathways in soil bacteria, including carbon metabolism, citrate cycle, pyruvate metabolism, biosynthesis of amino acids, and glycolysis/gluconeogenesis, revealing improvements in soil biological activity and soil health. Therefore, the results provide a practical strategy for the safe utilization of farmland with mild levels of heavy metal pollution.


Assuntos
Oryza , Poluentes do Solo , Cádmio/análise , Poluição Ambiental , Fertilizantes , Humanos , Solo , Poluentes do Solo/análise
5.
Mol Biol Rep ; 47(10): 8265-8269, 2020 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-32929651

RESUMO

The earthworm (Drawida gisti) is an ecologically important sentinel species for soils that is widely distributed throughout Eastern Asia; however, the molecular tools required for genetic diversity studies of this earthworm are still rare. The aim of the study was to develop and characterize microsatellite markers in D. gisti and to evaluate their transferability to other Drawida species. We employed a RAD-seq approach to develop 12 microsatellite markers for D. gisti. The characterization and analysis of loci was achieved using 24 individuals of D. gisti from a natural population. The number of alleles per locus ranged from four to eleven, with an average of 6.5. Observed and expected heterozygosities varied from 0.708 to 0.958, and from 0.568 to 0.883, respectively. No loci presented significant deviations from the Hardy-Weinberg equilibrium, while linkage disequilibrium was detected between three loci. Cross-species amplification tests suggested that the transferability of ten loci was positive for the two congeners D. japonica and D. ghilarovi. This set of microsatellite markers may be used to evaluate the genetic diversity and population structures of D. gisti and related species in the future.


Assuntos
Alelos , Loci Gênicos , Heterozigoto , Repetições de Microssatélites , Oligoquetos/genética , Polimorfismo Genético , Animais
6.
Zhongguo Dang Dai Er Ke Za Zhi ; 22(7): 796-803, 2020 Jul.
Artigo em Zh | MEDLINE | ID: mdl-32669181

RESUMO

OBJECTIVE: To study the biomarkers for human coronary artery endothelial cell (HCAEC) injury induced by Kawasaki disease (KD) using isobaric tags for relative and absolute quantitation (iTRAQ) proteomics. METHODS: HCAECs cultured with the serum of children with KD were used as the KD group, and those cultured with the serum of healthy children was used as the healthy control group. The iTRAQ technique was used to measure the expression of proteins in two groups. The data on proteins were analyzed by bioinformatics. Western blot was used for the validation of protein markers. RESULTS: A total of 518 significantly differentially expressed proteins were identified (with an absolute value of difference fold of >1.2, P<0.05). The gene ontology analysis showed that the differentially expressed proteins were significantly enriched in biological processes (including cellular processes, metabolic processes, and biological regulation), cellular components (including cell parts, cells, and organelles), and molecular functions (including binding, catalytic activity, and molecular function regulators). The KEGG analysis showed that the proteins were significantly enriched in the signaling pathways of ribosomes, PI3K-Akt signaling pathway, and transcriptional dysregulation in cancer. The PPI network showed that the top 9 protein markers in relation density were PWP2, MCM4, MCM7, MCM5, MCM3, MCM2, SLD5, HDAC2, and MCM6, which were selected as the protein markers for coronary endothelial injury in KD. Western blot showed that the KD group had significantly lower expression levels of the protein markers HDAC2, PWP2, and MCM2 than the healthy control group (P<0.05). CONCLUSIONS: The serum of children with KD significantly changes the protein expression pattern of HCAECs and affects the signaling pathways associated with the cardiovascular system, which provides a new basis for the pathophysiological mechanism and therapeutic targets of KD.


Assuntos
Síndrome de Linfonodos Mucocutâneos , Proteômica , Criança , Biologia Computacional , Vasos Coronários , Células Endoteliais , Humanos , Fosfatidilinositol 3-Quinases
7.
Med Sci Monit ; 25: 5350-5355, 2019 Jul 19.
Artigo em Inglês | MEDLINE | ID: mdl-31322139

RESUMO

BACKGROUND Emergency endoscopic intestinal stenting has been applied with increasing frequency in colorectal cancer patients with acute intestinal obstruction. However, its clinical effectiveness as compared to emergency surgery remains controversial. MATERIAL AND METHODS The clinical data of 96 patients with acute intestinal obstruction caused by colorectal cancer from April 2012 to April 2018 were retrospectively collected. Statistical technique success rate, clinical success rate, operative time, average indwelling time of stent, complications, transition time to second-stage surgery, postoperative hospital stay, sputum rate, and postoperative infection rate were studied. RESULTS Endoscopic colonoscopy was successfully performed in 94 patients. The success rate of stent placement was 97.9%, and the average operative time was 35 minutes (range, 25-85 minutes). Forty-two patients underwent stage I colectomy after relief of the obstruction. The average stent retention time was 7 days (range, 5-15 days). Two patients suffered from anastomotic infection. Their intestinal preparation time, hospital stay, fistula rate, and infection rate were lower than those of patients undergoing emergency operation for colon cancer intestinal obstruction. A total of 52 patients with colon cancer underwent palliative stent placement. Three patients had complications, including 1 case of stent displacement in the palliative care group and 2 cases with perforation in the bridge surgery group. CONCLUSIONS Emergency endoscopic placement of an intestinal stent is safe and effective in the treatment of patients with acute intestinal obstruction caused by colorectal cancer. It is also a safe and simple procedure for patients receiving advanced palliative treatment, which greatly improves their quality of life and is easy for patients' families to accept.


Assuntos
Endoscopia/métodos , Obstrução Intestinal/cirurgia , Stents/efeitos adversos , Doença Aguda , Adulto , Idoso , Idoso de 80 Anos ou mais , Neoplasias do Colo/cirurgia , Colonoscopia/métodos , Neoplasias Colorretais/complicações , Neoplasias Colorretais/cirurgia , Feminino , Humanos , Tempo de Internação , Masculino , Pessoa de Meia-Idade , Cuidados Paliativos/métodos , Complicações Pós-Operatórias/etiologia , Qualidade de Vida , Estudos Retrospectivos , Stents/tendências , Resultado do Tratamento
8.
Blood Cells Mol Dis ; 61: 26-36, 2016 10.
Artigo em Inglês | MEDLINE | ID: mdl-27667163

RESUMO

OBJECTIVE: This study aims to investigate the role of T follicular helper (TFH) cells in the immunopathogenesis of pediatric immune thrombocytopenia (ITP), as well as differences in TFH expansion and its regulation between newly diagnosed ITP (nITP) and chronic pediatric ITP (cITP). METHODS: Eighty-five children with ITP and 20 age-matched healthy controls were enrolled into this study. TFH cell frequencies and TFH cell-associated regulatory factors before and after treatment were analyzed by flow cytometry, RT-PCR and ELISA. RESULTS: The percentages of TFH cells were significantly elevated in both nITP and cITP compared with controls. RT-PCR revealed significant differences in Bcl-6, c-Maf, Blimp-1, ICOSL, TACI and BAFFR mRNA expression in CD4(+) T or CD19(+) B cells between patients and controls, and further between nITP and cITP, before and after treatment. Moreover, there were significant differences in serum IL-4, IL-21 and BAFF between patients and controls. CONCLUSION: The overactivation of TFH cells may contribute to the immunopathogenesis of pediatric ITP. IL-21 and IL-4 serum levels may affect the differentiation of TFH cells in ITP patients. The aberrant balance between BAFFR-BAFF/TACI-BAFF may be a factor that caused the persistent high expression of ICOSL in pediatric cITP, which consequently lead to the over activation of TFH cells in pediatric cITP.


Assuntos
Púrpura Trombocitopênica Idiopática/patologia , Linfócitos T Auxiliares-Indutores/patologia , Fator Ativador de Células B/sangue , Estudos de Casos e Controles , Proliferação de Células , Pré-Escolar , Doença Crônica , Ensaio de Imunoadsorção Enzimática , Feminino , Citometria de Fluxo , Humanos , Lactente , Interleucina-4/sangue , Interleucinas/sangue , Contagem de Linfócitos , Masculino , Reação em Cadeia da Polimerase , Púrpura Trombocitopênica Idiopática/diagnóstico , Linfócitos T Auxiliares-Indutores/metabolismo
9.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 33(3): 286-91, 2016 Jun.
Artigo em Zh | MEDLINE | ID: mdl-27264805

RESUMO

OBJECTIVE: To investigate the clinical phenotype and ACAT1 gene mutation in a family affected with beta-ketothiolase deficiency (BKTD). METHODS: Clinical features and laboratory test data were collected. The probands were monozygotic twin brothers. Genomic DNA was isolated from peripheral blood leukocytes obtained from the probands and their family members. Molecular genetic testing of the ACAT1 gene was carried out. RESULTS: The probands have presented with fever, vomiting and severe ketoacidosis. By arterial blood gas testing, pH was determined to be 7.164, bicarbonate was 4.0 mmol/L, and urine ketone was ++++. Urinary organic acid gas chromatography-mass spectrometry analysis showed excessive excretion of 3-hydroxybutyric acid, 2-methyl-3-hydroxybutyric acid and tiglylglycine. Increased 3-hydroxybutyrylcarnitine (C4-OH), tiglylcarnitine(C5:1) and 3-hydroxyisovalerylcarnitine (C5-OH) levels. The clinical phenotype of proband's parents were both normal, but an elder sister turned out to be an affected patient. Genetic analysis has identified two heterozygous mutations [c.622C>T(p.R208X) and c.653C>T (p.S218F)] in the proband, which were respectively detected in the mother and father. The c.653C>T (p.S218F) mutation was not found among the 100 healthy controls and has not been included in the Human Gene Mutation Database(HGMD). CONCLUSION: The primary clinical manifestations of BKTD is ketoacidosis. Urine organic acid and blood acylcarnitine analyses play an important role in the diagnosis of the disease. The compound heterozygous of ACAT1 gene mutations probably underlie the BKTD in our patient.


Assuntos
Acetil-CoA C-Acetiltransferase/genética , Acetil-CoA C-Aciltransferase/deficiência , Erros Inatos do Metabolismo dos Aminoácidos/genética , Mutação , Acetil-CoA C-Aciltransferase/genética , Biologia Computacional , Feminino , Humanos , Lactente , Masculino , Fenótipo
10.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 33(1): 48-52, 2016 Feb.
Artigo em Zh | MEDLINE | ID: mdl-26829733

RESUMO

OBJECTIVE: To explore pathogenic mutation in a family affected with 2-hydroxyglutaric aciduria. METHODS: Exons of 3 candidate genes, including L2HGDH, D2HGDH and SLC25A1, were amplified with polymerase chain reaction and subjected to direct sequencing. RESULTS: DNA sequencing has found that the proband and his affected younger brother have both carried a heterozygous mutation c.845G>A (p.R282Q) in the exon 7 of the L2HGDH gene. The same mutation was not detected in the his sister who was healthy. Pedigree analysis has confirmed that the above mutation was inherited from the mother. No mutation was detected in exons and flanking sequences of the D2HGDH and SLC25A1 genes. CONCLUSION: Mutation of the L2HGDH gene probably underlies the 2-hydroxyglutaric aciduria in this family.


Assuntos
Oxirredutases do Álcool/genética , Encefalopatias Metabólicas Congênitas/enzimologia , Encefalopatias Metabólicas Congênitas/genética , Mutação , Sequência de Bases , Encéfalo/diagnóstico por imagem , Encefalopatias Metabólicas Congênitas/diagnóstico por imagem , Criança , Feminino , Humanos , Masculino , Dados de Sequência Molecular , Linhagem , Radiografia , Adulto Jovem
12.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 32(1): 26-30, 2015 Feb.
Artigo em Zh | MEDLINE | ID: mdl-25636094

RESUMO

OBJECTIVE: To analyze PCCA and PCCB gene mutations in 10 Chinese patients with propionic acidemia(PA). METHODS: Genomic DNA was extracted from peripheral blood leukocytes. The 39 exons and flanking sequences of the PCCA and PCCB genes were amplified with polymerase chain reaction and subjected to direct DNA sequencing. RESULTS: DNA sequencing has revealed that 7 patients have carried a PCCA gene mutation, 2 patients carried PCCB gene mutation and 1 patient carried mutations in both PCCA and PCCB genes. Ten PA mutations were confirmed, including 8 affecting the PCCA gene and 2 affecting the PCCB gene. Three PCCA mutations c.245G>A, IVS15+5del5, c.1288C>T and 2 PCCB mutations c.838insC, c.1087T>C were found for the first time. CONCLUSION: Among Chinese patients with propionic acidemia patients, their genetic mutations are mainly found on the PCCA gene.


Assuntos
Metilmalonil-CoA Descarboxilase/genética , Mutação , Acidemia Propiônica/genética , Pré-Escolar , Feminino , Humanos , Lactente , Masculino
13.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 32(2): 218-21, 2015 Apr.
Artigo em Zh | MEDLINE | ID: mdl-25863090

RESUMO

OBJECTIVE: To analyze the clinical features and mutation of MUT gene in a Chinese patient with isolated methylmalonic acidemia. METHODS: The clinical characteristics and laboratory tests data were collected. Genomic DNA was extracted from peripheral blood leukocytes. The 13 exons and their flanking sequences of the MUT gene were amplified with polymerase chain reaction and subjected to direct DNA sequencing. RESULTS: The patient has featured failure to thrive, lethargy, seizure, hypotonia, severe ketoacidosis and hyperammonemia. Tandem mass results showed reduction of multiple acylcarnitine. Urine organic acid testing showed pronounced increase in methylmalonate excretion. Homocysteine was normal. The patient showed no response to vitamin B12 treatment. The above results suggested that the patient had isolated methylmalonic acidemia. DNA sequencing analysis confirmed that the patient has carried two MUT gene mutations, c.755dupA and a novel mutation c.944dupT. CONCLUSION: Inherited metabolic disease screening plays an important role in the diagnosis of clinical diseases. However, to confirm the results will need gene mutation analysis.


Assuntos
Erros Inatos do Metabolismo dos Aminoácidos/enzimologia , Metilmalonil-CoA Mutase/genética , Mutação , Erros Inatos do Metabolismo dos Aminoácidos/genética , Sequência de Bases , Feminino , Humanos , Recém-Nascido , Dados de Sequência Molecular
14.
Zhongguo Zhong Xi Yi Jie He Za Zhi ; 35(1): 81-7, 2015 Jan.
Artigo em Zh | MEDLINE | ID: mdl-25790680

RESUMO

OBJECTIVE: To observe the anti-renal fibrosis effect of Paidu Baoshen Pill (PBP) on 5/6 nephrectomized rats and to explore its mechanism. METHODS: Totally 50 SD male healthy rats were randomly divided into the normal control group (n = 10), the sham-operation group (n = 10), and the nephrectomy model group (n = 30) according to the proportion of 1:1:3. Rats in the sham-operation group had their renal capsule isolated without nephrectomy. Rats in the nephrectomy model group had their kidneys 5/6 nephrectomized. Then 24 h urine was collected and 24 h urinary protein (24 h UP) detected. Serum blood urea nitrogen (BUN) and serum creatitine (SCr) were also tested. According to the SCr level 30 rats of the model group were further randomly divided into the model group, the PBP group, and the Niaoduqing Granule (NG) group, 10 in each group. Rats in the PBP group and the NG group were respectively administered with PBP (at the daily dose of 1.0 g/kg) and NG (at the daily dose of 3.33 g/kg) by gastrogavage (they were dissolved in distilled water). At the same time, 2 mL distilled water was administered by gastrogavage to rats in the normal control group, the sham-operation group, and the nephrectomy model group, once daily for 4 successive weeks. Mental conditions, activities, hair color, shape of stool, and the body weight were observed during administration. After 4 weeks, urine was collected to detect 24 h UP. Blood was sampled to detect SCr, BUN, transforming growth factor ß1 (TGF-ß1), type III procollagen (PC III), collagen type IV (Col IV), laminin (LN), and fibronectin (FN). After rats were killed, their left remnant renal tissues were collected for pathological examinations. The protein expression quantity of TGF-ß1 and FN was detected by immunohistochemical method. mRNA expression levels of TGF-ß1 and FN were detected using real time fluorescent quantitative PCR. RESULTS: There was no statistical difference in the above indices between the normal control group and the sham-operation group (P > 0.05). Compared with the sham-operation group, rats' general condition was poorer in the model group, their body weight grew slower, and 24 h UP increased; serum levels of BUN, SCr, TGF-ß1, PC III, Col IV, LN, and FN increased; the residual renal pathological lesion was serious; expression levels of TGF-ß1, TGF-ß1, mRNA, FN, and FN mRNA increased in the renal tissue (all P < 0.01). Compared with the model group, rats' general condition was better, their body weight grew faster, 24 h UP reduced (P < 0.05), blood levels of BUN and SCr decreased significantly (P < 0.01), serum levels of TGF-ß1, PC III, CoL IV, LN, and FN decreased (P < 0.05, P < 0.01); the residual renal pathological lesion was attenuated in the PBP group and the NG group; expression levels of TGF-ß1, TGF-ß1, mRNA, FN, and FN mRNA decreased (P < 0.01). Compared with the NG group, blood levels of SCr and FN, and expression levels of FN and FN mRNA decreased more in the PBP group (P < 0.05). CONCLUSIONS: PBP had the effect of anti-renal fibro- sis in 5/6 nephrectomized rats. Down-regulating expression levels of TGF-ß1, and FN from gene transcription and protein translation levels might be one of its mechanisms.


Assuntos
Medicamentos de Ervas Chinesas/uso terapêutico , Nefropatias/tratamento farmacológico , Animais , Nitrogênio da Ureia Sanguínea , Colágeno Tipo IV , Fibronectinas , Rim , Laminina , Masculino , Nefrectomia , Ratos , Fator de Crescimento Transformador beta1
15.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 31(3): 268-71, 2014 Jun.
Artigo em Zh | MEDLINE | ID: mdl-24927999

RESUMO

OBJECTIVE: To detect potential mutations of Y9ASS1, ASL and SLC25A13 genes in four patients manifesting citrullinemia. METHODS: Genomic DNA was extracted from peripheral blood leukocytes. Exons and their flanking sequences of the three genes were amplified with polymerase chain reaction and subjected to direct DNA sequencing. RESULTS: Based on DNA sequence analysis, one case was diagnosed with argininosuccinate synthetase deficiency, and the mutation type (ASS1 gene) was c.236C>T (p.S79F) + c.431C>G (p.P144R). Two cases were diagnosed with argininosuccinic aciduria (ASL gene), and their gene mutations were c.434A>G (p.D145G) + c.1366C>T (p.R456W) and c.331C>T (p.R111W) + IVS8+2insT, respectively. A thirteen months boy who carried a heterozygous 851del4 mutation (SLC25A13 gene) was diagnosed with citrullinemia adult-onset type II. CONCLUSION: Through analysis of relevant pathogenic genes, four patients have been diagnosed.


Assuntos
Argininossuccinato Liase/genética , Argininossuccinato Sintase/genética , Citrulinemia/enzimologia , Citrulinemia/genética , Proteínas de Transporte da Membrana Mitocondrial/genética , Mutação Puntual , Adulto , Sequência de Aminoácidos , Argininossuccinato Liase/metabolismo , Argininossuccinato Sintase/metabolismo , Sequência de Bases , Feminino , Humanos , Lactente , Masculino , Proteínas de Transporte da Membrana Mitocondrial/metabolismo , Dados de Sequência Molecular , Linhagem
16.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 31(5): 565-9, 2014 Oct.
Artigo em Zh | MEDLINE | ID: mdl-25297582

RESUMO

OBJECTIVE: To identify the types of OTC gene mutations in three male patients with late onset ornithine transcarbamylase deficiency (OTCD, MIM #311250). METHODS: Genomic DNA was extracted from peripheral blood leukocytes. The 10 exons and their flanking sequences of the OTC gene were amplified with polymerase chain reaction and subjected to direct DNA sequencing. RESULTS: Based on DNA sequence analysis, all of the three patients have carried OTC gene mutations. Patients 1 and 2 were both hemizygous for mutation c.586G> A(p.D196N). A novel mutation c.800G> C(p.S267T) were confirmed in patient 3. CONCLUSION: p.S267T mutation has affected the conserved amino acid motif of the OTC protein, and is therefore a pathogenic mutation.


Assuntos
Mutação , Doença da Deficiência de Ornitina Carbomoiltransferase/epidemiologia , Doença da Deficiência de Ornitina Carbomoiltransferase/genética , Ornitina Carbamoiltransferase/genética , Idade de Início , Sequência de Aminoácidos , Sequência de Bases , Criança , Humanos , Lactente , Masculino , Dados de Sequência Molecular , Análise de Sequência de DNA , Homologia de Sequência de Aminoácidos
17.
Zhongguo Dang Dai Er Ke Za Zhi ; 16(4): 370-4, 2014 Apr.
Artigo em Zh | MEDLINE | ID: mdl-24750832

RESUMO

OBJECTIVE: To study the expression of leukocyte-associated Ig-like receptor-1(LAIR-1) in children with immune thrombocytopenia (ITP), in order to explore the possible role of LAIR-1 in the pathogenesis of childhood ITP. METHODS: Expression levels of LAIR-1 on CD4(+) T cells, CD8(+) T cells and CD19(+)CD20(+) B cells of peripheral blood were measured in 40 children with ITP by flow cytometry. Serum level of solubility LAIR-1 (sLAIR-1) was measured using ELISA. Real-time PCR was used to measure LAIR-1 mRNA expression. Thirty-two healthy children served as the control group. RESULTS: The percentages of CD19(+)CD20(+) B cells in the ITP group were significantly higher than in the control group (P<0.05). In contrast, the percentage of CD4(+) T cells in the ITP group was significantly lower than in the control group (P<0.05). The expression levels of LAIR-1 on CD4(+) T cells and CD8(+) T cells were significantly lower in the ITP group than in the control group (P<0.05). Serum sLAIR-1 level and LAIR-1 mRNA expression in the ITP group significantly increased compared with the control group (P<0.05). CONCLUSIONS: LAIR-1 expression on CD4(+) and CD8(+) T cells decreases and serum sLAIR-1 level increases in children with ITP, suggesting that LAIR-1 may play an important role in immune imbalance in these children.


Assuntos
Púrpura Trombocitopênica Idiopática/imunologia , Receptores Imunológicos/fisiologia , Linfócitos T CD4-Positivos/imunologia , Linfócitos T CD8-Positivos/imunologia , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , RNA Mensageiro/análise , Receptores Imunológicos/sangue , Receptores Imunológicos/genética
18.
Zhongguo Dang Dai Er Ke Za Zhi ; 16(12): 1215-9, 2014 Dec.
Artigo em Zh | MEDLINE | ID: mdl-25523568

RESUMO

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.


Assuntos
Asma/imunologia , Proteínas de Ligação a DNA/genética , Receptores CXCR5/análise , Proteínas Repressoras/genética , Linfócitos T Auxiliares-Indutores/imunologia , Criança , Pré-Escolar , Feminino , Humanos , Imunoglobulina E/sangue , Lactente , Interleucinas/sangue , Masculino , Fator 1 de Ligação ao Domínio I Regulador Positivo , Proteínas Proto-Oncogênicas c-bcl-6 , RNA Mensageiro/análise
19.
Discov Nano ; 19(1): 40, 2024 Mar 07.
Artigo em Inglês | MEDLINE | ID: mdl-38453741

RESUMO

The slip systems and motion behavior of dislocations induced by nano-indentation technique in GaN-based LDs were investigated. Dislocations with burgers vector of b = 1/3 <11 2 ¯ 3> were introduced on either {11 2 ¯ 2} <11 2 ¯ 3>, or {1 1 ¯ 01} <11 2 ¯ 3> pyramidal slip systems in the upper p-GaN layer. Besides, {0001} <11 2 ¯ 0> basal slip system was also activated. The AlGaN/InGaN multi-layers in device can provide mismatch stresses to prevent dislocations from slipping through. It was observed that the density of dislocations induced by the indenter significantly decreased from the upper to the lower regions of the multi-layers. The a + c dislocations on pyramidal slip planes were mostly blocked by the strained layers.

20.
Heliyon ; 10(1): e23439, 2024 Jan 15.
Artigo em Inglês | MEDLINE | ID: mdl-38148824

RESUMO

Objective: Peripheral blood routine parameters (PBRPs) are simple and easily acquired markers to identify ulcerative colitis (UC) and Crohn's disease (CD) and reveal the severity, whereas the diagnostic performance of individual PBRP is limited. We, therefore used four machine learning (ML) models to evaluate the diagnostic and predictive values of PBRPs for UC and CD. Methods: A retrospective study was conducted by collecting the PBRPs of 414 inflammatory bowel disease (IBD) patients, 423 healthy controls (HCs), and 344 non-IBD intestinal diseases (non-IBD) patients. We used approximately 70 % of the PBRPs data from both patients and HCs for training, 30 % for testing, and another group for external verification. The area under the receiver operating characteristic curve (AUC) was used to evaluate the diagnosis and prediction performance of these four ML models. Results: Multi-layer perceptron artificial neural network model (MLP-ANN) yielded the highest diagnostic performance than the other three models in six subgroups in the training set, which is helpful for discriminating IBD and HCs, UC and CD, active CD and remissive CD, active UC and remissive UC, non-IBD and HCs, and IBD and non-IBD with the AUC of 1.00, 0.988, 0.942, 1.00, 0.986, and 0.97 in the testing set, as well as the AUC of 1.00, 1.00, 0.773, 0.904, 1.00 and 0.992 in the external validation set. Conclusion: PBRPs-based MLP-ANN model exhibited good performance in discriminating between UC and CD and revealing the disease activity; however, a larger sample size and more models need to be considered for further research.

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