Your browser doesn't support javascript.
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 83
Filtrar
Mais filtros










Base de dados
Intervalo de ano de publicação
1.
PeerJ ; 7: e7959, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31660280

RESUMO

Background: DegS is a periplasmic serine protease that is considered to be the initiator of the σE stress response pathway, and this protein plays an important role in the regulation of the stress response in E. coli. However, knowledge of the biological function and global regulatory network of DegS in Vibrio cholerae remains limited. In this study, we aimed to characterize the molecular functions and further investigate the regulatory network of degS in V. cholerae. Methods: A deletion mutant of degS was constructed in the V. cholerae HN375 strain. Bacterial colony morphology was observed by a plate-based growth experiment, and bacterial growth ability was observed by a growth curve experiment. High-throughput RNA sequencing (RNA-Seq) technology was used to analyze the differential transcriptomic profiles between the wild-type and degS mutant strains. Gene ontology (GO), pathway analysis and Gene-Act-network analysis were performed to explore the main functions of the differentially expressed genes. Quantitative real-time PCR (qRT-PCR) was performed to validate the reliability and accuracy of the RNA-Seq analysis. The complementation experiments were used to test the roles of degS and ropS in the small colony degS mutant phenotype. Results: When degS was deleted, the degS mutant exhibited smaller colonies on various media and slower growth than the wild-type strain. A total of 423 differentially expressed genes were identified, including 187 genes that were upregulated in the degS mutant compared to the wild-type strain and 236 genes that were relatively downregulated. GO categories and pathway analysis showed that many differentially expressed genes were associated with various cellular metabolic pathways and the cell cycle. Furthermore, Gene-Act network analysis showed that many differentially expressed genes were involved in cellular metabolic pathways and bacterial chemotaxis. The cAMP-CRP-RpoS signaling pathway and the LuxPQ signal transduction system were also affected by the degS mutant. The expression patterns of nine randomly selected differentially expressed genes were consistent between the qRT-PCR and RNA-seq results. The complementation experiments showed that the small colony degS mutant phenotype could be partially restored by complementation with the pBAD24-degS or pBAD24-rpoS plasmid. Discussion: These results suggest that the degS gene is important for normal growth of V. cholerae. Some of the differentially expressed genes were involved in various cellular metabolic processes and the cell cycle, which may be associated with bacterial growth. Several new degS-related regulatory networks were identified. In addition, our results suggested that the cAMP-CRP-RpoS signaling pathway may be involved in the small colony degS mutant phenotype. Overall, we believe that these transcriptomic data will serve as useful genetic resources for research on the functions of degS in V. cholerae.

2.
J Epidemiol ; 2019 Sep 21.
Artigo em Inglês | MEDLINE | ID: mdl-31548437

RESUMO

BACKGROUND: To investigate epidemiologic features of Kawasaki disease (KD) in Shanghai from 2013 through 2017 and identify risk factors for coronary artery lesions (CAL). METHODS: As in our previous three surveys, a set of questionnaires and diagnostic guidelines for KD were sent to 50 hospitals providing pediatric medical care in Shanghai. Medical records of KD patients diagnosed from January 2013 through December 2017 were retrospectively analyzed. Multivariate logistic regression analysis was performed to identify risk factors for CAL. RESULTS: A total of 4452 cases were enrolled. Male-to-female ratio was 1.7:1. The incidence of KD was 68.8 to 107.3 per 100,000 children aged <5 years from 2013 to 2017. Age at onset ranged from 15 days to 14.0 years (median: 1.8 years). KD occurred more frequently in spring and summer. Of 4325 patients (97.0%) receiving intravenous immunoglobulin (IVIG), 362 (8.4%) were resistant to initial IVIG. CAL occurred in 406 (9.1%) patients, including 118 (2.7%) with medium aneurysms and 31 (0.7%) with giant aneurysms. Recurrent cases were 60 (1.3%). No death was found in this survey. Higher platelet levels, lower albumin levels, male sex, incomplete KD, IVIG resistance, and receiving initial IVIG ≤4 days or >10 days, were independently associated with CAL. CONCLUSIONS: The incidence of KD in Shanghai had substantially increased while the proportion of CAL had substantially decreased as compared with our previous surveys. Higher platelet levels, lower albumin levels, male sex, incomplete KD, IVIG resistance, and receiving initial IVIG ≤4 days or >10 days, were risk factors for CAL.

3.
Mikrochim Acta ; 186(4): 208, 2019 03 02.
Artigo em Inglês | MEDLINE | ID: mdl-30826944

RESUMO

Poly(1,5-diaminonaphthalene) microparticles with abundant reactive amino and imino groups on their surface were synthesized by one-step oxidative polymerization of 1,5-diaminonaphthalene using ammonium persulfate as the oxidant. The molecular, supramolecular, and morphological structures of the microparticles were systematically characterized by IR and UV-vis spectroscopies, elementary analysis, wide-angle X-ray diffractometry, and transmission electron microscopy. The microparticles demonstrate electrical semiconductivity and high resistance to strong acid and alkali, and strong adsorption capability for lead(II), mercury(II), and silver(I) ions. The experimental conditions for adsorption of Pb(II) were optimized by varying the persulfate/monomer ratio, adsorption time, sorbent concentration, and pH value of the Pb(II) solution. The maximum adsorption capacity is 241 mg·g-1 for particles after a 24 h-exposure to a solution at an initial Pb(II) concentration of 29 mM. The adsorption data fit a Langmuir isotherm and follow a pseudo-second-order reaction kinetics. This indicates a chemical adsorption that is typical for a chelation interaction between Pb(II) and amino/imino groups on the sorbent. Graphical abstract Poly(1,5-diaminonaphthalene) microparticles with abundant functional amino and imino groups have been synthesized by one-step direct polymerization of non-volatile 1,5-diaminonaphthalene in aqueous medium for sustainable preparation of high-performance adsorbents to strongly adsorb lead(II), mercury(II), and silver(I) ions.

4.
Orphanet J Rare Dis ; 14(1): 29, 2019 02 07.
Artigo em Inglês | MEDLINE | ID: mdl-30732632

RESUMO

BACKGROUND: The RASopathies are a class of developmental disorders caused by germline mutations in the RAS-mitogen-activated protein kinase (MAPK) pathway. Hypertrophic cardiomyopathy (HCM) has been frequently described in children with RASopathy, but only a minority of patients have received formal genotyping. The purpose of this study was to evaluate the genetic basis and clinical outcome of pediatric patients with RASopathy-associated HCM. METHODS: We retrospectively reviewed the mutation spectrum and clinical outcome of all the patients with RASopathy derived from 168 pediatric HCM cases referred to our institution between January 2012 and July 2018. RESULTS: A heterozygous missense mutation in one of known RASopathy genes was identified in 46 unrelated children with HCM. Mutations in the PTPN11 gene were the most prevalent (19/46); this was followed by mutations in RAF1 (11/46), KRAS (5/46), RIT1 (4/46), BRAF (3/46), SOS1 (2/46), HRAS (1/46), and SHOC2 (1/46). Moreover, two compound heterozygous missense mutations in the LZTR1 gene were identified in one patient with the Noonan syndrome phenotype and HCM. The median age at the diagnosis of HCM was 3.0 months (range 0 months to 8.1 years). Twenty-one of the patients had significant left ventricular outflow tract obstruction and 32 had concomitant congenital heart disease. Three patients with a mutation in exon 13 of the PTPN11 gene died of cardiac failure at the ages of 3.0, 3.5, and 6.0 months. The remaining 44 patients were alive after an average follow-up time of 3.9 years (0.5 to 17.1 years, median 2.9 years) from the initial diagnosis of HCM, including 5 patients with spontaneous regression of their cardiac hypertrophy. CONCLUSIONS: RASopathy-associated HCM is a heterogeneous genetic condition characterized by early-onset cardiac hypertrophy and a high prevalence of co-existing congenital heart disease, which is most frequently related to specific mutations in the PTPN11 gene. Rapidly progressive HCM, resulting in an early death, is uncommon in RASopathy patients except those with specific mutations in exon 13 of the PTPN11 gene.


Assuntos
Cardiomiopatia Hipertrófica/genética , Cardiomiopatia Hipertrófica/patologia , Proteínas Quinases Ativadas por Mitógeno/genética , Criança , Pré-Escolar , Estudos de Coortes , Éxons/genética , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Proteínas Quinases Ativadas por Mitógeno/metabolismo , Mutação de Sentido Incorreto/genética , Proteína Tirosina Fosfatase não Receptora Tipo 11/genética , Estudos Retrospectivos , Transdução de Sinais/genética , Transdução de Sinais/fisiologia
5.
Microb Pathog ; 129: 206-212, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-30772476

RESUMO

Streptococcus pneumoniae infection is associated with very high morbidity and mortality throughout the world. Vaccines are an effective measure for the reduction of S. pneumoniae infection. In particular, protein vaccines are attracting increasing attention because of their good immunogenicity and wide coverage of serotypes. Therefore, identifying effective protein vaccine targets is important for protein vaccine development. SP0148 is a promising protein vaccine target for S. pneumoniae and is capable of reducing S. pneumoniae colonization in the nasopharynx of mice through the IL-17A pathway. However, the protective effects of SP0148 in fatal pneumococcal infection have not been evaluated. This study used subcutaneous and nasal immunization routes to systematically evaluate the protective effects of the SP0148 protein in fatal pneumococcal infection. Subcutaneous and nasal mucosal immunization with recombinant SP0148 protein produced effective immune protection against infection with a lethal dose of S. pneumoniae and significantly prolonged survival time and increased the survival rate of mice. Furthermore, nasal immunization with SP0148 induced mouse splenocytes to secrete high levels of the cytokines IFN-γ and IL-17A. Both recombinant SP0148 protein and its antiserum inhibited the adhesion of S.pneumoniae D39 to A549 human lung epithelial cells in a dose-dependent manner. In summary, SP0148 induced mice to produce protective immune responses to fatal S. pneumoniae infection, and our results could contribute to the accumulating data on the use of SP0148 protein vaccines.


Assuntos
Antígenos de Bactérias/imunologia , Proteínas de Bactérias/imunologia , Vacinas Pneumocócicas/imunologia , Pneumonia Pneumocócica/prevenção & controle , Streptococcus pneumoniae/imunologia , Células A549 , Administração Intranasal , Animais , Anticorpos Antibacterianos/sangue , Antígenos de Bactérias/genética , Aderência Bacteriana , Proteínas de Bactérias/genética , Modelos Animais de Doenças , Células Epiteliais/microbiologia , Feminino , Humanos , Injeções Subcutâneas , Interferon gama/metabolismo , Interleucina-17/metabolismo , Leucócitos Mononucleares/imunologia , Camundongos Endogâmicos C57BL , Vacinas Pneumocócicas/administração & dosagem , Vacinas Pneumocócicas/genética , Streptococcus pneumoniae/fisiologia , Análise de Sobrevida , Vacinas de Subunidades/administração & dosagem , Vacinas de Subunidades/genética , Vacinas de Subunidades/imunologia , Vacinas Sintéticas/administração & dosagem , Vacinas Sintéticas/genética , Vacinas Sintéticas/imunologia
6.
Nanoscale ; 10(36): 17341-17346, 2018 Sep 20.
Artigo em Inglês | MEDLINE | ID: mdl-30198037

RESUMO

Transition metal dichalcogenides have recently revealed interesting physical properties which lead to promising applications for functional devices. TaSe2, as a member of transition metal dichalcogenides, attracts a great deal of attention as a layered electric conductor with low dimension and metallic nature. Herein, we prepare a three-dimensional conductive quasi-array based on 2H-TaSe2 nanobelts, which are synthesized directly on a tantalum foil by one step surface-assisted chemical vapor transport method. The conductive quasi-arrays are used as substrate for in situ electrodeposition of polypyrrole to form cylinder-like composite nanostructures. It is shown that the TaSe2 nanobelts can improve conductivity and stability of polypyrrole by acting as conductive and robust skeleton. A symmetric supercapacitor constructed from the composites demonstrates high areal capacitance of 835 mF cm-2 at a scan rate of 2 mV s-1, wide potential window of 1.2 V, and excellent cycling stability with 98.7% capacitance retention after 10 000 cycles. Meanwhile, the assembly process of the supercapacitor is quite simple because it does not need any additional current collector, binder or conductive additive. The nanocomposites have been verified to be a very effective way to improve electrochemical performance of polypyrrole, and are promising to be applied as supercapacitors.

7.
Langmuir ; 34(36): 10569-10579, 2018 09 11.
Artigo em Inglês | MEDLINE | ID: mdl-30111117

RESUMO

Graphene oxide (GO) has been demonstrated as the most promising candidate for surface modification of polymer separation membranes for durable filtration applications. However, the adhesion between GO coating and polymer substrate, as the most essential issue for reliable applications, has been little explored. Herein, we developed a facile high-pressure assisted deposition method to physically anchor GO sheets on microfiltration (MF) and reverse osmosis (RO) membranes, and established a tape test procedure for assessing the adhesion of GO coating to polymer substrates based on the ASTM D3359. Through regulating the GO sources and coating process, we demonstrated that the adhesion depends sensitively on the GO flake size and deposition pressure, whereas the adhesion level dramatically improved from 0B to 5B, with decrease in the lateral size of GO and increase in the coating deposition pressure. The strong GO coatings showed evidently higher water flux than that of weak counterparts. The underlying mechanism was further analyzed and verified. Nanosize of GO and high deposition pressure favor the formation of the conformal morphologies of GO coatings on both MF and RO membranes, which allow strong interfacial van der Waals interaction because of the large contact areas and result in the strong GO coatings on membranes. These results potentially open up a versatile pathway to develop the strong graphene-based coatings on separation membranes.

8.
Chem Soc Rev ; 46(23): 7469, 2017 11 27.
Artigo em Inglês | MEDLINE | ID: mdl-29098211

RESUMO

Correction for 'The physics and chemistry of graphene-on-surfaces' by Guoke Zhao, Xinming Li, Meirong Huang et al., Chem. Soc. Rev., 2017, 46, 4417-4449.

9.
Chemosphere ; 186: 817-822, 2017 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-28822259

RESUMO

Kawasaki disease (KD) is a kind of pediatric vasculitis of unknown etiology which mainly affects the development of coronary artery aneurysms. Few studies have explored the potential environmental risk factors on KD incidence. We performed a time-series analysis to investigate the associations between air pollution and temperature and KD in Shanghai, China. We collected daily-hospitalized KD patients that were admitted in major pediatric specialty hospitals located in the urban areas of Shanghai from 2001 to 2010. The over-dispersed generalized additive model was used to estimate the effects of air pollutants on KD incidence on each day. Then, this model was combined with a distributed lag non-linear model to estimate the cumulative effects of temperature over a week. There were positive but statistically insignificant associations between three major air pollutants and KD incidence. The association between daily mean temperature and KD was generally J-shaped with higher risks on hot days. The cumulative relative risk of KD at extreme hot temperature (99th percentile, 32.4 °C) over a week was 1.91 [95% confidence interval (CI): 1.13, 3.23], compared with the referent temperature (10.0 °C). This study suggested that a short-term exposure to high temperature may significantly increase the incidence of KD, and the evidence linking air pollution and KD incidence was limited.


Assuntos
Poluição do Ar/estatística & dados numéricos , Exposição Ambiental/estatística & dados numéricos , Síndrome de Linfonodos Mucocutâneos/epidemiologia , Temperatura Ambiente , Poluentes Atmosféricos/análise , Poluição do Ar/análise , Criança , Pré-Escolar , China/epidemiologia , Feminino , Temperatura Alta , Humanos , Incidência , Masculino , Dinâmica não Linear , Fatores de Risco
10.
Chem Soc Rev ; 46(15): 4417-4449, 2017 07 31.
Artigo em Inglês | MEDLINE | ID: mdl-28678225

RESUMO

Graphene has demonstrated great potential in next-generation electronics due to its unique two-dimensional structure and properties including a zero-gap band structure, high electron mobility, and high electrical and thermal conductivity. The integration of atom-thick graphene into a device always involves its interaction with a supporting substrate by van der Waals forces and other intermolecular forces or even covalent bonding, and this is critical to its real applications. Graphene films on different surfaces are expected to exhibit significant differences in their properties, which lead to changes in their morphology, electronic structure, surface chemistry/physics, and surface/interface states. Therefore, a thorough understanding of the surface/interface properties is of great importance. In this review, we describe the major "graphene-on-surface" structures and examine the roles of their properties and related phenomena in governing the overall performance for specific applications including optoelectronics, surface catalysis, anti-friction and superlubricity, and coatings and composites. Finally, perspectives on the opportunities and challenges of graphene-on-surface systems are discussed.

11.
Genet Test Mol Biomarkers ; 21(6): 391-396, 2017 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-28394184

RESUMO

AIMS: We sought to understand the clinical course and molecular defects of infantile-onset Pompe disease (IOPD) among mainland Chinese patients. MATERIALS AND METHODS: Twenty-five Chinese patients with IOPD were enrolled and clinical data were retrospectively reviewed. The entire coding region of the GAA gene was amplified by polymerase chain reaction and analyzed by direct sequencing. RESULTS: The median age at symptom onset was 3.4 months (range: 1.0-7.1 months) and 4.9 months (range: 2.7-8.3 months) at diagnosis. Only one patient received enzyme replacement therapy (ERT) and this child survived beyond the age of 2 years. Of the 24 patients not receiving ERT, all, but one patient, died at a median age of 8.3 months (range: 4.0-12.2 months). Thirteen novel and two common GAA mutations were identified in this study. The allelic frequency of c.2662G > T (p.Glu888X) was 23.1% in northern Chinese patients and 4.2% in southern Chinese patients, whereas the allelic frequency of c.1935C > A (p.Asp645Glu) was 20.8% in southern and 3.8% in northern Chinese patients. CONCLUSIONS: We identified the most common mutations in southern and northern Chinese patients with IOPD.


Assuntos
Doença de Depósito de Glicogênio Tipo II/genética , Doença de Depósito de Glicogênio Tipo II/metabolismo , alfa-Glucosidases/genética , Alelos , Grupo com Ancestrais do Continente Asiático/genética , China , Feminino , Frequência do Gene/genética , Humanos , Lactente , Recém-Nascido , Masculino , Mutação , Reação em Cadeia da Polimerase , alfa-Glucosidases/metabolismo
12.
Orphanet J Rare Dis ; 12(1): 26, 2017 02 10.
Artigo em Inglês | MEDLINE | ID: mdl-28183324

RESUMO

BACKGROUND: Barth syndrome (BTHS) is a rare X-linked recessive disease characterized by cardiomyopathy, neutropenia, skeletal myopathy and growth delay. Early diagnosis and appropriate treatment may improve the prognosis of this disease. The purpose of this study is to determine the role of targeted next-generation sequencing (NGS) in the early diagnosis of BTHS in children with cardiomyopathy. METHODS: During the period between 2012 and 2015, a gene panel-based NGS approach was used to search for potentially disease-causing genetic variants in all patients referred to our institution with a clinical diagnosis of primary cardiomyopathy. NGS was performed using the Illumina sequencing system. RESULTS: A total of 180 Chinese pediatric patients (114 males and 66 females) diagnosed with primary cardiomyopathy were enrolled in this study. TAZ mutations were identified in four of the male index patients, including two novel mutations (c.527A > G, p.H176R and c.134_136delinsCC, p.H45PfsX38). All four probands and two additional affected male family members were born at full term with a median birth weight of 2350 g (range, 2000-2850 g). The median age at diagnosis of cardiomyopathy was 3.0 months (range, 1.0-20.0 months). The baseline echocardiography revealed prominent dilation and trabeculations of the left ventricle with impaired systolic function in the six patients, four of which fulfilled the diagnostic criteria of left ventricular noncompaction. Other aspects of their clinical presentations included hypotonia (6/6), growth delay (6/6), neutropenia (3/6) and 3-methylglutaconic aciduria (4/5). Five patients died at a median age of 7.5 months (range, 7.0-12.0 months). The cause of death was heart failure associated with infection in three patients and cardiac arrhythmia in two patients. The remaining one patient survived beyond infancy but had fallen into a persistent vegetative state after suffering from cardiac arrest. CONCLUSIONS: This is the first report of systematic mutation screening of TAZ in a large cohort of pediatric patients with primary cardiomyopathy using the NGS approach. TAZ mutations were found in 4/114 (3.5%) male patients with primary cardiomyopathy. Our findings indicate that the inclusion of TAZ gene testing in cardiomyopathy genetic testing panels may contribute to the early diagnosis of BTHS.


Assuntos
Síndrome de Barth/genética , Cardiomiopatias/genética , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Mutação de Sentido Incorreto/genética , Fatores de Transcrição/genética , Biologia Computacional , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Erros Inatos do Metabolismo/genética , Mutação/genética , Neutropenia/genética , Linhagem
13.
Eur J Pediatr ; 176(2): 253-260, 2017 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-28074279

RESUMO

The aim of this study was to investigate the pathological classifications, clinical features, and natural history of pediatric cardiac tumors to provide a basis for the selection of an appropriate therapeutic method. The medical records of in- or outpatients with cardiac tumors at four hospitals were classified to analyze various types of tumor growth locations, clinical manifestations, surgical indications, and long-term follow-up results. There were 166 patients, including 158 with primary cardiac tumors, six with metastatic cardiac tumors, and two with unclassified cardiac tumors. Among the 158 cases of primary cardiac tumor, 150 were benign and eight were malignant. The rhabdomyoma, fibroma, and myxoma are the most common types of benign cardiac tumors. The major clinical manifestations of cardiac tumors include outflow tract obstruction, arrhythmia, dyspnea, pericardial effusion, heart failure, and seizures. Among the 59 patients who underwent surgery, 49 had primary benign cardiac tumors, eight had primary malignant tumors, and two had malignant metastatic tumors. Post-surgery, nine of the patients had residual tumor tissues that did not significantly affect their hemodynamics. Following surgery, there were two cases of recurrence and nine deaths, including four of benign and five of malignant tumors with mortality rates of 8.2 and 50.0 %, respectively. Of the remaining 107 cases of patients who did not undergo surgery, five (4.7 %) died. CONCLUSION: The primary benign cardiac tumors are the predominant pediatric cardiac tumors, of which rhabdomyoma, fibroma, and myxoma are the most common types. If severe symptoms are nonexistent and the hemodynamics is unaffected, most of the patients can survive in the long term despite the tumors. What is known: • Pediatric cardiac tumors are rare and are predominantly primary and benign. • The symptoms of heart failure, arrhythmia, and outflow obstruction are the most severe complications of cardiac tumors. What is new: • The rhabdomyoma, fibroma, and myxoma are the most common types of primary benign cardiac tumors. • If severe symptoms are not present and the hemodynamics are unaffected, most of the patients can survive in the long term despite the tumors.


Assuntos
Fibroma/diagnóstico , Neoplasias Cardíacas/diagnóstico , Mixoma/diagnóstico , Rabdomioma/diagnóstico , Adolescente , Criança , Pré-Escolar , Feminino , Fibroma/epidemiologia , Fibroma/cirurgia , Seguimentos , Neoplasias Cardíacas/epidemiologia , Neoplasias Cardíacas/cirurgia , Humanos , Incidência , Lactente , Recém-Nascido , Masculino , Mixoma/epidemiologia , Mixoma/cirurgia , Estudos Retrospectivos , Rabdomioma/epidemiologia , Rabdomioma/cirurgia
14.
Thorac Cardiovasc Surg ; 65(1): 26-30, 2017 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-26935177

RESUMO

Objective To discuss the anatomical morphologies of the coronary arteries and frequencies of unusual coronary arteries in complete transposition of the great arteries and double outlet right ventricle (DORV) associated with a subpulmonic ventricular septal defect (VSD). Methods Between March 1999 and August 2012, 1,078 patients with complete transposition of the great arteries or DORV with subpulmonary VSD underwent arterial switch operations (ASOs) and were visually evaluated to classify their coronary artery morphology during open heart surgery. Results The coronary arteries could be classified into five patterns with several subtypes. Unusual coronary arteries were observed in 248 of the 1,078 cases, providing a frequency of 23.01%. The frequencies of the patients with transposition of the great arteries with intact ventricular septum (TGA/IVS), TGA/VSD, and DORV with subpulmonary VSD were 17.65, 23.28, and 31.84%, respectively. The most common morphologies were the right coronary artery (RCA) originating from sinus 1 and circumflex (CX) originating from sinus 2 (1R, AD; 2CX; 26.50%); the CX originating from sinus 2 (1AD; 2R, CX; 21.36%); the RCA, left anterior descending artery, and CX originating from single sinus 2 (2R, AD, CX; 13.24%). The in-hospital mortalities of the patients with or without unusual coronary arteries after ASO were 14.1 and 6.02%, respectively. Conclusion Patients with complete transposition of the great arteries or DORV with subpulmonary VSD have a high frequency of unusual coronary arteries, which might greatly impact on the mortality for ASO. Improving the preoperative diagnostic criteria for coronary artery morphology may significantly increase the success rate for ASOs.


Assuntos
Anomalias dos Vasos Coronários/patologia , Vasos Coronários/patologia , Dupla Via de Saída do Ventrículo Direito/patologia , Transposição dos Grandes Vasos/patologia , Transposição das Grandes Artérias/efeitos adversos , Transposição das Grandes Artérias/mortalidade , Criança , Pré-Escolar , China , Anomalias dos Vasos Coronários/classificação , Anomalias dos Vasos Coronários/mortalidade , Dupla Via de Saída do Ventrículo Direito/classificação , Dupla Via de Saída do Ventrículo Direito/mortalidade , Dupla Via de Saída do Ventrículo Direito/cirurgia , Feminino , Mortalidade Hospitalar , Humanos , Lactente , Recém-Nascido , Masculino , Estudos Retrospectivos , Fatores de Risco , Transposição dos Grandes Vasos/classificação , Transposição dos Grandes Vasos/mortalidade , Transposição dos Grandes Vasos/cirurgia , Resultado do Tratamento
15.
Am J Cardiol ; 118(6): 888-894, 2016 09 15.
Artigo em Inglês | MEDLINE | ID: mdl-27460667

RESUMO

Danon disease is an X-linked disorder with the clinical triad of cardiomyopathy, skeletal myopathy, and mental retardation. Early diagnosis of this disease remains a challenge, especially in the pediatric population. In this study, we developed a targeted panel-based next generation sequencing pipeline to identify mutations by sequencing of selected candidate genes in 136 pediatric patients with either hypertrophic cardiomyopathy (HC) or idiopathic dilated cardiomyopathy (IDC). This led to the identification of lysosome-associated membrane protein 2 (LAMP2) mutations in 4 of the 64 (6%) probands with HC, including 3 novel nonsense mutations (p.Q240X, p.S250X, and p.G22X). No LAMP2 mutation was detected in the other 72 probands with IDC. All 4 probands and one additional affected family member (2 men and 3 women) had an early-onset age and presented either HC alone or combined with Wolff-Parkinson-White syndrome and skeletal myopathy. Immunofluorescence staining and Western blot analysis revealed absent LAMP2 expression in both cardiac and skeletal muscle samples of the first proband and severely decreased LAMP2 expression in the skeletal muscle samples of the second proband. In conclusion, cardiomyopathy in the patients with Danon disease may occur during early childhood and tend to be HC rather than IDC in both affected men and women. Therefore, Danon disease should be considered as one of the leading causes of unexplained ventricular hypertrophy in pediatric patients. The inclusion of LAMP2 gene in cardiomyopathy genetic screening panels may contribute to early diagnosis of Danon disease.


Assuntos
Cardiomiopatia Hipertrófica/genética , Doença de Depósito de Glicogênio Tipo IIb/genética , Proteína 2 de Membrana Associada ao Lisossomo/genética , Mutação , Adolescente , Idade de Início , Western Blotting , Cardiomiopatia Dilatada/genética , Cardiomiopatia Hipertrófica/metabolismo , Estudos de Casos e Controles , Criança , Pré-Escolar , Códon sem Sentido , Feminino , Imunofluorescência , Genótipo , Doença de Depósito de Glicogênio Tipo IIb/metabolismo , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Lactente , Proteína 2 de Membrana Associada ao Lisossomo/metabolismo , Masculino , Músculo Esquelético/metabolismo , Miocárdio/metabolismo , Fenótipo , Análise de Sequência de DNA , Síndrome de Wolff-Parkinson-White/genética
16.
Congenit Heart Dis ; 11(4): 323-31, 2016 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-27029420

RESUMO

BACKGROUND: Open cardiac surgery has traditionally been the gold standard for repair of ventricular septal defect (VSD). The inherent risks and complications associated with open surgery and the incidence of postoperative residual VSD are significant disadvantages of the open surgical approach. OBJECTIVE: To evaluate the methodology and efficacy of transcatheter closure of postoperative residual VSD in children. METHODS: Patients with postoperative VSD who underwent percutaneous device closure in the period from August 2010 and February 2014 in our center were analyzed retrospectively. Twelve children, including 8 males and 4 females, with mean age of 8.13 ± 5.39 years (range 0.67-17 years) and mean weight of 29.63 ± 20.86 kg (range 5.5-66 kg) were included in the study. RESULTS: Ten cases had residual shunts situated at the margin of the patches while the other two had residual shunts because of multiple muscular VSD. The mean VSD diameter was 3.84 ± 1.86 mm (range 2.3-8.7 mm). On cardiac catheterization, the reported mean pulmonary circulatory blood volume/systemic circulation volume (Qp/Qs) ratio was 1.86 ± 0.91 (range 1.1-4.25) and the mean pulmonary artery pressure was 25.92 ± 12.42 mm Hg (range 7-52 mm Hg). Successful transcatheter closure was obtained in all twelve patients with postsurgery residual VSD. Two cases with residual muscular VSD underwent retrograde catheterization via the femoral artery while one case with residual VSD located at the lower margin of the patch was accessed via the internal jugular vein. The mean procedure time was 81.25 ± 25.86 minutes (range 40-120 minutes). There was no evidence of residual VSD, and no instances of new-onset valvular regurgitation were reported, with the only two exceptions being patients who had multiple muscular VSDs where clinically insignificant residual shunts were detected. CONCLUSION: Our retrospective study highlights the potential safety and therapeutic efficacy of transcatheter approach for closing postoperative residual VSD in children. RECOMMENDATIONS: More robust studies with longer-term follow-up of outcomes are required to firmly establish the safety profile and respective indications for use of various occluder devices for treating different categories of residual VSD.


Assuntos
Cateterismo Cardíaco , Procedimentos Cirúrgicos Cardíacos , Comunicação Interventricular/terapia , Adolescente , Fatores Etários , Cateterismo Cardíaco/efeitos adversos , Cateterismo Cardíaco/instrumentação , Procedimentos Cirúrgicos Cardíacos/efeitos adversos , Criança , Pré-Escolar , Feminino , Comunicação Interventricular/diagnóstico por imagem , Comunicação Interventricular/fisiopatologia , Comunicação Interventricular/cirurgia , Humanos , Lactente , Masculino , Estudos Retrospectivos , Dispositivo para Oclusão Septal , Resultado do Tratamento
17.
Pediatr Infect Dis J ; 35(1): 7-12, 2016 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-26372452

RESUMO

BACKGROUND: This study was to investigate the epidemiologic trends of Kawasaki disease (KD) and coronary arterial lesions (CALs) in Shanghai from 2008 through 2012. METHODS: Data were collected by using the network of the KD research group established during the first survey in Shanghai to conduct the third survey, covering the period from 2008 through 2012. Clinical records of 2304 patients with acute KD were retrospectively reviewed. Epidemiologic features of KD were investigated. Univariate and multivariate analyses were performed to identify the risk factors for CAL in patients with KD. The data were compared with the previous 2 surveys covering the periods from 1998 to 2002 and 2003 to 2007, respectively. RESULTS: The average incidence of KD was 30.3 to 71.9 per 100,000 children aged 0-4 years from 2008 through 2012. Age at onset ranged from 32 days to 11.7 years (median: 2.3 years). The occurrence of KD was more common in summer and spring. A total of 365 (15.9%) cases developed CAL defined as ectasia or aneurysm. Male, age ≤ 1 year, intravenous immunoglobulin (IVIG) unresponsiveness, a smaller administrative dosage and the delayed administration of IVIG (>10 days) were independent risk factors for CAL. The occurrence of CAL seemed less frequent in patients who received IVIG within 5 days after onset of illness. CONCLUSIONS: The incidence of KD in children has increased over time, and the development of CAL decreased in the past 5 years in Shanghai. Earlier treatment with IVIG (<5 days) was associated with reduced CAL among patients with KD.


Assuntos
Síndrome de Linfonodos Mucocutâneos/epidemiologia , Distribuição por Idade , Idade de Início , Criança , Pré-Escolar , China/epidemiologia , Vasos Coronários/patologia , Ecocardiografia , Feminino , História do Século XXI , Humanos , Imunoglobulinas Intravenosas/uso terapêutico , Incidência , Lactente , Recém-Nascido , Masculino , Síndrome de Linfonodos Mucocutâneos/diagnóstico , Síndrome de Linfonodos Mucocutâneos/tratamento farmacológico , Síndrome de Linfonodos Mucocutâneos/história , Vigilância em Saúde Pública , Recidiva , Fatores de Risco , Estações do Ano , Fatores Sexuais
18.
Eur J Pediatr ; 175(2): 195-201, 2016 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-26311567

RESUMO

UNLABELLED: Congenital extrahepatic portosystemic shunt (CEPS) is a rare malformation of the mesenteric vasculature, which may lead to severe complications. In this report, we describe a case series of three children with type II CEPS (presenting as hypoxemia) and hepatopulmonary syndrome (HPS). The first patient was a 4-year-old male who did not receive any specific treatment and subsequently died of brain abscess 5 years after the diagnosis. The second patient was a 10-year-old female with a 5-year history of cyanosis and dyspnea on exertion. She had partial regression of hypoxemia and improved exercise tolerance at 8 months after a surgical shunt closure. The third patient was a 4-year-old male with a 3-year history of cyanosis and decreased exercise tolerance. He had full regression of hypoxemia at 3 months after a transcatheter shunt closure. CONCLUSION: These results indicate that CEPS may present in children with unexplained hypoxemia, which may lead to devastating clinical consequences. Closure of portosystemic shunts may result in resolution of HPS in type II CEPS and the length of period for resolution varies depending on the severity of HPS. WHAT IS KNOWN: Congenital extrahepatic portosystemic shunt (CEPS) is a rare cause of hepatopulmonary syndrome (HPS). There have been few reports in the literature about the management and outcome of HPS in children with CEPS. WHAT IS NEW: CEPS may present in children with unexplained hypoxemia, which may lead to devastating clinical consequences. Closure of portosystemic shunts may result in resolution of HPS in type II CEPS.


Assuntos
Síndrome Hepatopulmonar/etiologia , Veia Porta/anormalidades , Malformações Vasculares/complicações , Angiografia , Criança , Pré-Escolar , Feminino , Síndrome Hepatopulmonar/cirurgia , Humanos , Hipóxia/etiologia , Masculino , Veia Porta/cirurgia , Malformações Vasculares/cirurgia
19.
Pak J Pharm Sci ; 28(6 Suppl): 2267-72, 2015 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-26687755

RESUMO

The Chinese commonly believe that tea helps maintain clear vision. This viewpoint has been recorded in Chinese medical books also. The key bioactive compounds in green tea leaves, (-)-epigallocatechin gallate (EGCG), L-theanine (theanine) and caffeine, were investigated for their abilities to attenuate the injury of retinal ganglion cells (RGC-5) induced by H2O2 and ultraviolet radiation. Theanine and caffeine promoted cell growth while concentrations of EGCG greater than 10µg/ml inhibited cell growth. The nine and caffeine both protected RGC-5 cells from injury as well as enhanced their recovery, while EGCG only protected the cells from injury and did not help them to recover. Tea is a unique drink, which is simultaneously enriched with EGCG, theanine and caffeine. The role of these compounds in optic nerve protection may partially explain why some tea drinkers feel enhanced vision.

20.
Acta Histochem ; 117(8): 803-10, 2015 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-26251197

RESUMO

Angiotensin1-7 (Ang1-7) is a biologically active member of the renin-angiotensin system, which has been reported to exhibit protective effect in myocardial ischemia reperfusion-induced injury. However, the molecular basis of this effect is not well understood. It has been proposed that oxidative stress-induced cardiomyocyte apoptosis is a major consequence of hypoxia/reoxygenation (H/R) injury. This study investigates the protective effect of Ang1-7 against H/R-induced oxidative stress in rat H9C2 cells. Our results showed that Ang1-7 (80nM) treatment significantly protected cells from H/R-induced oxidative injury via improving cell viability and reducing cell apoptosis. The protective effect of Ang1-7 was associated with the inhibition of ROS-associated mitochondrial dysfunction as well as the induction of Akt phosphorylation. These findings may significantly contribute to better understanding the protective effect of Ang1-7, particularly in hypoxia/reoxygenation-induced heart diseases and form the basis in the therapeutic development in treating cardiovascular diseases.


Assuntos
Angiotensina I/farmacologia , Cardiotônicos/farmacologia , Mitocôndrias Cardíacas/metabolismo , Estresse Oxidativo , Fragmentos de Peptídeos/farmacologia , Espécies Reativas de Oxigênio/metabolismo , Transdução de Sinais , Animais , Apoptose , Hipóxia Celular , Linhagem Celular , Sobrevivência Celular , Avaliação Pré-Clínica de Medicamentos , Mitocôndrias Cardíacas/efeitos dos fármacos , Miócitos Cardíacos , Oxigênio/fisiologia , Proteínas Proto-Oncogênicas c-akt/metabolismo , Ratos
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA