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1.
EMBO J ; 42(24): e114060, 2023 Dec 11.
Artículo en Inglés | MEDLINE | ID: mdl-38009297

RESUMEN

Hepatocellular carcinoma (HCC) formation is a multi-step pathological process that involves evolution of a heterogeneous immunosuppressive tumor microenvironment. However, the specific cell populations involved and their origins and contribution to HCC development remain largely unknown. Here, comprehensive single-cell transcriptome sequencing was applied to profile rat models of toxin-induced liver tumorigenesis and HCC patients. Specifically, we identified three populations of hepatic parenchymal cells emerging during HCC progression, termed metabolic hepatocytes (HCMeta ), Epcam+ population with differentiation potential (EP+Diff ) and immunosuppressive malignant transformation subset (MTImmu ). These distinct subpopulations form an oncogenic trajectory depicting a dynamic landscape of hepatocarcinogenesis, with signature genes reflecting the transition from EP+Diff to MTImmu . Importantly, GPNMB+ Gal-3+ MTImmu cells exhibit both malignant and immunosuppressive properties. Moreover, SOX18 is required for the generation and malignant transformation of GPNMB+ Gal-3+ MTImmu cells. Enrichment of the GPNMB+ Gal-3+ MTImmu subset was found to be associated with poor prognosis and a higher rate of recurrence in patients. Collectively, we unraveled the single-cell HCC progression atlas and uncovered GPNMB+ Gal-3+ parenchymal cells as a major subset contributing to the immunosuppressive microenvironment thus malignance in HCC.


Asunto(s)
Carcinoma Hepatocelular , Neoplasias Hepáticas , Humanos , Animales , Ratas , Carcinoma Hepatocelular/metabolismo , Neoplasias Hepáticas/metabolismo , Hepatocitos , Carcinogénesis/genética , Transformación Celular Neoplásica/genética , Transformación Celular Neoplásica/patología , Terapia de Inmunosupresión , Microambiente Tumoral , Factores de Transcripción SOXF , Glicoproteínas de Membrana/genética
2.
Biomed Chromatogr ; 37(1): e5512, 2023 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-36101977

RESUMEN

Tryptophan (TRP) and its metabolites exhibit significant biological effects and are strongly associated with age-related disease and mortality. However, reports on quantitatively analyzing these metabolites in older individuals are not available. We used ultra-high-performance liquid chromatography-tandem mass spectrometry to optimize and validate a method for isotope dilution analysis of TRP metabolites in older individuals. The targeted analytes are TRP, serotonin or 5-hydroxytryptamine, kynurenine, kynurenic acid, xanthurenic acid, indole-3-acetic acid, indole-3-propionic acid, and tryptamine. The serum sample was purified using solid-phase extraction and was separated on a Waters HSS T3 column (100 mm × 2.1 mm, 1.8 µm). The analytes were detected in the multiple reaction monitoring mode under positive ionization. TRP was confirmed and measured after being diluted 100 times. This method exhibited satisfactory linearity (r > 0.99). The intrabatch and interbatch accuracies (85.7-114%) and precisions (<15%) were acceptable. The standard-normalized matrix effects ranged from 51.6 to 145%. This method was successfully applied to a cohort of 1021 older Chinese individuals, and this study may enable further understanding of the metabolic phenotypes associated with TRP in other populations.


Asunto(s)
Espectrometría de Masas en Tándem , Triptófano , Humanos , Triptófano/metabolismo , Espectrometría de Masas en Tándem/métodos , Pueblos del Este de Asia , Quinurenina , Ácido Quinurénico , Cromatografía Líquida de Alta Presión/métodos , Serotonina
3.
Am J Orthod Dentofacial Orthop ; 164(3): e64-e71, 2023 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-37341669

RESUMEN

INTRODUCTION: Motivations, perceptions, and psychosocial states of adult patients with orthodontic disorders in China have not been widely studied. The study assessed the psychosocial states and perceptions of adult patients undergoing orthodontic treatments with different motivations. METHODS: Two hundred forty-three adult patients (mean age, 30.2 ± 7.4 years; women, 79.0%) undergoing orthodontic treatment were recruited from a tertiary stomatology hospital. The patients answered a patient-centered questionnaire regarding motivations and perceptions of orthodontic treatment and the Psychosocial Impact of Dental Aesthetics Questionnaire. Data were analyzed using the chi-square test on the basis of multiple responses. Multiple linear regression analyses were performed to determine the association between motivation factors and the Psychosocial Impact of Dental Aesthetics Questionnaire subscale scores (P <0.05). RESULTS: Patients with various motivations were as follows: occlusal function reason (70.4%), dental esthetic reason (54.7%), facial esthetic reason (24.3%), and following others' suggestions (18.5%). Patients with esthetic or occlusal motivations exhibited significantly greater need and interest for orthodontic treatment (P <0.001). Multiple linear regression analyses revealed that the scores of social impact, psychological impact, and esthetic concern subscales were significantly associated with both dental and facial esthetic motivations (P <0.001). CONCLUSIONS: The primary motivations of Chinese patients were observed to be improved esthetics and occlusal function. Patients with esthetic or occlusal motivations exhibited significantly greater need and interest in treatment. Patients with facial or dental esthetic motivations experienced greater impacts of psychosocial states. Therefore, the patient motivations and impacts of esthetic-related psychosocial states on them should be considered during treatment.


Asunto(s)
Maloclusión , Humanos , Adulto , Femenino , Adulto Joven , Maloclusión/terapia , Maloclusión/psicología , Motivación , Estética Dental , Atención Odontológica , Encuestas y Cuestionarios , Autoimagen
4.
Horm Metab Res ; 53(1): 49-55, 2021 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-32886944

RESUMEN

The present study was aimed to evaluate the association of lipoprotein lipase (LPL) gene (S447X and Hind III) polymorphisms and T2DM. Relevant studies were identified through systematic search PubMed, Cochrane Library, Embase, Wanfang, CNKI databases. A total of 22 studies (8 studies for LPL S447X and 14 studies for Hind III) were included. The results showed that the LPL S447X polymorphism was associated with the low risk of T2DM under dominant and allelic genetic models. Subgroup analysis by ethnicity showed that the LPL S447X polymorphism was associated with a decreased risk of T2DM in the Asian population (under dominant, heterozygous and allelic genetic models). In addition, we found that X allele carriers of S447X polymorphism is associated with low levels of TC, TG, and LDL. In subgroup analysis, Hind III polymorphism was associated with low risk of T2DM in Asian populations (under dominant, heterozygote, allele genetic models). Moreover, the carriers of H allele of Hind III have lower levels of TG, and higher levels of HDL-C. This meta-analysis demonstrated that 447X carriers and H allele in LPL gene associated with low risk of T2DM, which may due to in part to the change of serum level of TC, TG, LDL, and HDL.


Asunto(s)
Diabetes Mellitus Tipo 2/enzimología , Diabetes Mellitus Tipo 2/genética , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Lipoproteína Lipasa/genética , Polimorfismo Genético , Diabetes Mellitus Tipo 2/sangre , Humanos , Lípidos/sangre , Modelos Genéticos , Polimorfismo de Nucleótido Simple/genética , Factores de Riesgo
5.
Z Rheumatol ; 80(10): 1004-1009, 2021 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-33258022

RESUMEN

OBJECTIVE: The aim of this study is to assess the quality and reliability of online videos on ankylosing spondylitis (AS) exercises from the five most popular video websites in China. DESIGN: Cross-sectional and descriptive study. METHODS: We searched the video websites of Youku, Tencent, Tudou, IQiYi, and bilibili on February 15, 2020, using the keywords "Ankylosing spondylitis exercise" "Ankylosing spondylitis rehabilitation" and "Ankylosing spondylitis therapy" A total of 114 videos were included in the study and evaluated according to the Global Quality Scale (GQS) and modified DISCERN tool. RESULTS: According to the GQS, the videos were classified as high quality (12.3%, n = 14), intermediate quality (63.2%, n = 72), and low quality (24.6%, n = 28). Using the modified DISCERN tool, the videos were divided into useless (53.5%, n = 61), useful (35.1%, n = 40), and misleading (11.4%, n = 13). CONCLUSION: The analysis shows that the quality and reliability of online videos related to exercise therapy for Ankylosing spondylitis (AS) should be improved and supervised in China. Hospitals, universities, and medical doctors should make more useful and high-quality videos to provide effective exercise guidance for AS patients.


Asunto(s)
Medios de Comunicación Sociales , Espondilitis Anquilosante , China , Estudios Transversales , Terapia por Ejercicio , Humanos , Reproducibilidad de los Resultados , Espondilitis Anquilosante/terapia , Grabación en Video
6.
Eur J Clin Invest ; 50(12): e13352, 2020 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-32683694

RESUMEN

BACKGROUND: To evaluate the effects of exercise programmes on pain, function and disease activity in patients with ankylosing spondylitis (AS). MATERIALS AND METHODS: We searched PubMed, Embase, CNKI and Wanfang from inception to February 2020. Randomized controlled trials comparing exercises with nonexercise interventions in AS patients were applied. Studies that assessed the visual analogue scale (VAS) pain score, the Bath Ankylosing Spondylitis Disease Activity Index (BASDAI), the Bath Ankylosing Spondylitis Functional Index (BASFI), C-reactive protein (CRP) and erythrocyte sedimentation rate (ESR) were included. Outcomes of home-based exercise intervention were also reported independently. RESULTS: Ten studies met the inclusion criteria in all, including 534 patients (278 exercise, 256 control). Compared with the nonexercise group, exercise group had statistically significant improvements in pain (weighted mean difference [WMD]: -1.02 [95% CI: -1.50 to -0.55]) (I2 : 31%, P <.0001), BASDAI (WMD: -0.85 [95% CI: -1.09 to -0.61]) (I2 : 20%, P <.00001), and BASFI (WMD: -0.66 [95% CI: -0.95 to -0.38]) (I2 : 0%, P <.00001), but not in CRP and ESR. What's more, home-based exercise programmes had positive impacts on BASFI, BASDAI and pain. CONCLUSIONS: For patients with AS, exercise programmes improve pain, function and disease activity. To confirm the results, more well-designed randomized controlled trials with large number of patients are required.


Asunto(s)
Dolor de Espalda/rehabilitación , Terapia por Ejercicio/métodos , Espondilitis Anquilosante/rehabilitación , Dolor de Espalda/fisiopatología , Humanos , Ensayos Clínicos Controlados Aleatorios como Asunto , Índice de Severidad de la Enfermedad , Espondilitis Anquilosante/fisiopatología
7.
Future Oncol ; 16(25): 1921-1930, 2020 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-32915667

RESUMEN

Aim: To explore FBXW7 protein-coding transcript isoform (α, ß and γ) expression, their functions and prognostic value in ovarian serous cystadenocarcinoma (OSC). Materials & methods: FBXW7 transcript data were collected from The Cancer Genome Atlas and the Genotype-Tissue Expression project. IOSE, A2780 and SKOV3 cells were used for in vitro and in vivo studies. Results: FBXW7α and FBXW7γ are dominant protein-coding transcripts that were downregulated in OSC. FBXW7γ overexpression reduced the protein expression of c-Myc, Notch1 and Yap1 and suppressed OSC cell growth in vitro and in vivo. FBXW7γ expression was an independent indicator of longer disease-specific survival (HR: 0.588; 95% CI: 0.449-0.770) and progression-free survival (HR: 0.708; 95% CI: 0.562-0.892). Conclusion: FBXW7γ is a tumor-suppressive and might be the only prognosis-related FBXW7 transcript in OSC.


Asunto(s)
Empalme Alternativo , Biomarcadores de Tumor , Cistadenocarcinoma Seroso/etiología , Cistadenocarcinoma Seroso/mortalidad , Proteína 7 que Contiene Repeticiones F-Box-WD/genética , Regulación Neoplásica de la Expresión Génica , Neoplasias Ováricas/etiología , Animales , Línea Celular Tumoral , Cistadenocarcinoma Seroso/metabolismo , Cistadenocarcinoma Seroso/patología , Modelos Animales de Enfermedad , Trompas Uterinas/metabolismo , Femenino , Humanos , Estimación de Kaplan-Meier , Ratones , Metástasis de la Neoplasia , Estadificación de Neoplasias , Neoplasias Ováricas/metabolismo , Neoplasias Ováricas/patología , Pronóstico , Isoformas de ARN , ARN Mensajero/genética , Ensayos Antitumor por Modelo de Xenoinjerto
8.
Mod Rheumatol ; 30(1): 149-154, 2020 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-30561239

RESUMEN

Objectives: The aim of this study is to assess the current situations of standard exercise treatment and predictors of non-standard exercise in Chinese patients with ankylosing spondylitis (AS). An analysis of the effect of standard exercise on health-related quality of life (HR-QoL) was also conducted.Methods: In the cross-sectional study, a total of 259 AS patients were constantly invited to participate in this study and complete the questionnaire under the researchers' supervision in a clinical setting including sociodemographic variables, clinical variables, psychological variables, and HR-QoL. Data were analyzed by Mann-Whitney U test, Chi-square test as well as multivariable analysis of Binary Stepwise Logistic Regression.Results: The data showed that just 20.5% of them could complete the standard exercise. Exercise adherence was associated with employment, educational level, marital status, place of residence, treatment of Tumor Necrosis Factor-α inhibitor, knowledge about exercise, disease duration, clinical variables, and anxiety. The HR-QoL in the group of standard exercise was better than that in the non-standard exercise group. Logistic Regression Analysis showed that lower educational level, less knowledge about benefits of exercise treatment and higher score of Bath Ankylosing Spondylitis Disease Activity Index (BASDAI) were the independent risk factors of exercise treatment non-adherence.Conclusion: AS patients educated less than 9 years or with higher BASDAI score were more likely not to adhere to standard exercise treatment. Non-adherence to exercise treatment among AS patients is exceedingly common, particularly in patients without knowledge about benefits of exercise treatment. Standard exercise treatment can also improve HR-QoL of AS patients.


Asunto(s)
Terapia por Ejercicio/métodos , Ejercicio Físico/fisiología , Cooperación del Paciente , Calidad de Vida , Espondilitis Anquilosante/rehabilitación , Adulto , China , Estudios Transversales , Femenino , Humanos , Masculino , Factores de Riesgo , Espondilitis Anquilosante/fisiopatología , Espondilitis Anquilosante/psicología , Encuestas y Cuestionarios
9.
Entropy (Basel) ; 21(1)2019 Jan 10.
Artículo en Inglés | MEDLINE | ID: mdl-33266763

RESUMEN

Due to the rapid urbanization development, the precipitation variability in the Taihu Lake basin (TLB) in East China has become highly complex over the last decades. However, there is limited understanding of the spatiotemporal variability of precipitation complexity and its relationship with the urbanization development in the region. In this article, by considering the whole urbanization process, we use the SampEn index to investigate the precipitation complexity and its spatial differences in different urbanization areas (old urban area, new urban area and suburbs) in TLB. Results indicate that the precipitation complexity and its changes accord well with the urbanization development process in TLB. Higher urbanization degrees correspond to greater complexity degrees of precipitation. Precipitation in old urban areas shows the greatest complexity compared with that in new urban areas and suburbs, not only for the entire precipitation process but also the precipitation extremes. There is a significant negative correlation between the annual precipitation and its SampEn value, and the same change of precipitation can cause a greater complexity change in old urbanization areas compared with the new urban areas and suburbs. It is noted that the enhanced precipitation complexity in a new urban area during recent decades cannot be ignored facing the expanding urbanization.

10.
Zhongguo Dang Dai Er Ke Za Zhi ; 21(12): 1208-1211, 2019 Dec.
Artículo en Zh | MEDLINE | ID: mdl-31874661

RESUMEN

Floating-Harbor syndrome (FHS) is an autosomal dominant genetic disease caused by SRCAP mutation. This article reports the clinical features of a boy with FHS. The boy, aged 11 years and 7 months, attended the hospital due to short stature for more than 8 years and had the clinical manifestations of unusual facial features (triangularly shaped face, thin lips and long eyelashes), skeletal dysplasia (curvature finger), expressive language disorder, and retardation of bone age. Genetic detection revealed a novel heterozygous mutation, c.7330 C>T(p.R2444X), in the SRCAP gene. The boy was diagnosed with FHS based on these clinical manifestations and gene detection results. FHS is rare in clinical practice, which may lead to missed diagnosis and misdiagnosis, and gene detection may help with the clinical diagnosis of FHS in children.


Asunto(s)
Anomalías Múltiples , Anomalías Craneofaciales , Trastornos del Crecimiento , Defectos del Tabique Interventricular , Adenosina Trifosfatasas , Niño , Humanos , Masculino
11.
Entropy (Basel) ; 20(12)2018 Dec 12.
Artículo en Inglés | MEDLINE | ID: mdl-33266682

RESUMEN

Detecting the spatial heterogeneity in the potential occurrence probability of water disasters is a foremost and critical issue for the prevention and mitigation of water disasters. However, it is also a challenging task due to the lack of effective approaches. In the article, the entropy index was employed and those daily rainfall data at 520 stations were used to investigate the occurrences of rainstorms in China. Results indicated that the entropy results were mainly determined by statistical characters (mean value and standard deviation) of rainfall data, and can categorically describe the spatial heterogeneity in the occurrence of rainstorms by considering both their occurrence frequencies and magnitudes. Smaller entropy values mean that rainstorm events with bigger magnitudes were more likely to occur. Moreover, the spatial distribution of entropy values kept a good relationship with the hydroclimate conditions, described by the aridity index. In China, rainstorms are more to likely occur in the Pearl River basin, Southeast River basin, lower-reach of the Yangtze River basin, Huai River basin, and southwest corner of China. In summary, the entropy index can be an effective alternative for quantifying the potential occurrence probability of rainstorms. Four thresholds of entropy value were given to distinguish the occurrence frequency of rainstorms as five levels: very high, high, mid, low and very low, which can be a helpful reference for the study of daily rainstorms in other basins and regions.

12.
Chemistry ; 22(41): 14480-3, 2016 Oct 04.
Artículo en Inglés | MEDLINE | ID: mdl-27481204

RESUMEN

Graphene-based hybrid nanostructures possess many advantages in the field of electrochemical energy applications. In this work, a facile and efficient hydrothermal approach has been developed for the preparation of NiFe alloy nanoparticles/rGO hybrid nanostructures, in which the nanoparticles are well combined with rGO nanosheets and the size of the nanoparticles is about 100 nm. Moreover, the electrochemical oxygen evolution reaction (OER) tests confirmed that the obtained NiFe/rGO hybrid nanostructures possess notably higher activity than both the rGO-free NiFe nanoparticles and pure Ni/rGO hybrids, and the optimal NiFe ratio is 2:1. The OER overpotential at 20 mA cm(-1-2) with Ni2 Fe/rGO is as low as 0.285 V, which is 96 mV lower than that of pure Ni/rGO hybrids. Meanwhile, the Ni2 Fe/rGO catalyst has excellent stability. Therefore, this work contributes a facile and efficient method to prepare a NiFe alloy nanoparticles/rGO hybrid structure for potential applications in the field of electrochemical energy devices, such as electrochemical water splitting cells, rechargeable metal/air batteries, etc.

13.
Eur Phys J E Soft Matter ; 38(8): 88, 2015 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-26264396

RESUMEN

We present a structural and a multi-scale rheophysical investigation of magneto-sensitive materials based on biopolymers, namely aqueous solutions of sodium alginate incorporating magnetic maghemite nanoparticles, functionalized with adsorbed negative citrate ions. The large alginate ionic strength impacts the structure and the rheology of these nanocomposites in zero magnetic field. In given physico-chemical conditions, the system is fluid and homogeneous on macroscopic scales while it is diphasic on microscopic ones, containing micro-droplets coming from the demixion of the system. These micro-droplets are liquid and deformable under magnetic field. Their under-field elongation and their zero-field relaxation are directly observed by optical microscopy to determine their interfacial tension, their magnetic susceptibility and their internal viscosity. A structural analysis of the solutions of alginate chains and of the phase-separated mixtures of alginate and nanoparticles by Small Angle Scattering completes the local description of the system.


Asunto(s)
Alginatos/química , Biopolímeros/química , Nanopartículas de Magnetita/química , Ácido Glucurónico/química , Ácidos Hexurónicos/química , Campos Magnéticos , Nanocompuestos/química , Concentración Osmolar , Reología , Viscosidad
14.
Sleep Breath ; 19(4): 1475-81, 2015 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-25855471

RESUMEN

PURPOSE: 2,3-Oxidosqualene cyclase (OSC), an important enzyme of cholesterol biosynthesis, catalyzes the highly selective cyclization of 2,3-monoepoxysqualene to lanosterol. Intermittent hypoxia (IH) is a hallmark feature in obstructive sleep apnea (OSA) which is increasingly recognized as an independent risk factor for liver injury. The aim of this study was to determine the effect of IH on OSC expression and evaluate the role of OSC in the IH-induced apoptosis in hepatic cell line human liver cell (HL-02). METHODS: HL-02 cells were exposed to normoxia or IH. Cell Counting Kit-8 (CCK-8) assay was used to value cell proliferation, and flow cytometry was used to determine cell apoptosis. The expression of OSC messenger RNA (mRNA) was evaluated by quantitative real-time PCR, and the expression of OSC protein was determined by Western blot. To further investigate the function of OSC in IH-induced apoptosis, oxidosqualene cyclase-enhanced green fluorescence protein (OSC-EGFP) plasmid was constructed to over-express OSC protein. Triglyceride content in HL-02 cells was analyzed by oil red staining or Triglyceride Quantification Kit. RESULTS: We found that IH inhibited HL-02 cell proliferation and accelerated cell apoptosis. IH decreased OSC expression, and over-expression of OSC could protect HL-02 cells against the IH-induced hepatic cell injury. Moreover, over-expression of OSC could attenuate IH-induced cellular triglyceride accumulation. CONCLUSIONS: These findings suggest that OSC are involved in IH-induced hepatic cell injury. These results may contribute to the further understanding of the mechanism underlying the liver injury in OSA patients.


Asunto(s)
Hepatocitos/fisiología , Hipoxia/fisiopatología , Metabolismo de los Lípidos/fisiología , Apnea Obstructiva del Sueño/fisiopatología , Escualeno/análogos & derivados , Apoptosis/fisiología , Línea Celular , Proliferación Celular/fisiología , Colesterol/sangre , Humanos , Transferasas Intramoleculares/fisiología , Factores de Riesgo , Escualeno/sangre , Triglicéridos/sangre
15.
Disabil Rehabil ; 46(8): 1502-1514, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-37125688

RESUMEN

PURPOSE: To identify parameters and measurement methods of exercise therapy adherence, as well as barriers and facilitators affecting adherence among children and adolescents with juvenile idiopathic arthritis (JIA). METHODS: Studies were eligible for inclusion if patients were 0-18 years of age, had JIA, and the focus of the research was on exercise therapy patterns, measurement/parameters of exercise adherence, and barriers/facilitators for exercise adherence. Two reviewers independently identified and categorized the barriers and facilitators to exercise therapy adherence using the International Classification of Functioning, Disability, and Health (ICF). RESULTS: Twenty articles were included in this review. Among patients with JIA, 29%-99% adhered to exercise therapy. The most commonly measured parameters of adherence were session completion and behavior component, with a self-report log serving as the most common means of assessment. Time pressure, symptoms related to JIA, lack of enjoyment, and insufficient motivation were the main barriers. Facilitators were commonly identified as adequate motivation, effective symptoms management, and social support. CONCLUSIONS: Future interventions should consider the identified factors to promote exercise engagement in children and adolescents with JIA. Strategies for promoting exercise adherence in children and adolescents with JIA is needed.


Despite its potential as an effective means of improving health and function in patients with juvenile idiopathic arthritis (JIA), the level of exercise participation in this population is not ideal.Future interventions should focus on improving personal factors associated with exercise therapy adherence, such as motivation.To facilitate the participation in the exercise of children and adolescents with JIA, supportive exercise environments should be provided.


Asunto(s)
Artritis Juvenil , Niño , Humanos , Adolescente , Artritis Juvenil/terapia , Terapia por Ejercicio/métodos , Ejercicio Físico , Cooperación del Paciente , Autoinforme
16.
Zhonghua Yi Xue Za Zhi ; 93(14): 1089-92, 2013 Apr 09.
Artículo en Zh | MEDLINE | ID: mdl-23902843

RESUMEN

OBJECTIVE: To explore the ABCC8, KCNJ11, and GLUD1 gene mutations of the 11 patients diagnosed as congenital hyperinsulinism (CHI). METHODS: A total of 11 CHI children hospitalized in Beijing Children's Hospital from November 2008 to February 2012 and their parents were chosen as the study subjects. Direct sequencing of PCR-DNA was used to analyze the 39 exons of ABCC8 gene, non-translational region and exon of KCNJ11 gene and 6, 7, 10, 11 and 12 exons of GLUD1 gene. RESULTS: An P629PfsX17 heterozygous mutation of ABCC8 gene was detected in case 1 and his father, an W288X heterozygous mutation of ABCC8 gene was detected in case 4 and his father, A640V and Q1196X mutations in ABCC8 gene in case 5 whose father only carried the Q1196X mutation. In case 6 and his father, an R269H mutation was found in GLUD1 gene. The genotype of 4 children's mothers was normal. No mutations were found in other 7 patients and their parents. CONCLUSIONS: The ABCC8 gene mutations are the main pathogenic mechanisms of Chinese children with CHI. In Chinese, P629PfsX17, W288X, A640V and Q1196X heterozygous mutation of ABCC8 gene and R269H heterozygous mutation of GLUD1 gene may lead to CHI. The inheritance mode of the mutations may be paternally or de novo.


Asunto(s)
Hiperinsulinismo Congénito/genética , Glutamato Deshidrogenasa/genética , Mutación , Canales de Potasio de Rectificación Interna/genética , Receptores de Sulfonilureas/genética , Análisis Mutacional de ADN , Femenino , Genotipo , Heterocigoto , Humanos , Lactante , Recién Nacido , Masculino , Linaje
17.
Orphanet J Rare Dis ; 18(1): 21, 2023 01 31.
Artículo en Inglés | MEDLINE | ID: mdl-36721237

RESUMEN

Congenital hyperinsulinism (CHI) is a genetically heterogeneous disease, in which intractable, persistent hypoglycemia is induced by excessive insulin secretion and increased serum insulin concentration. To date,15 genes have been found to be associated with the pathogenesis of CHI. Glutamate dehydrogenase hyperinsulinism (GDH-HI) is the second most common type of CHI and is caused by mutations in the glutamate dehydrogenase 1 gene. The objective of this review is to summarize the genetic mechanisms, diagnosis and treatment progress of GDH-HI. Early diagnosis and treatment are extremely important to prevent long-term neurological complications in children with GDH-HI.


Asunto(s)
Hiperinsulinismo Congénito , Glutamato Deshidrogenasa , Niño , Humanos , Glutamato Deshidrogenasa/genética , Insulina , Hiperinsulinismo Congénito/diagnóstico , Hiperinsulinismo Congénito/genética , Mutación/genética
18.
J Multidiscip Healthc ; 16: 3749-3759, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-38076587

RESUMEN

Purpose: To identify the difficulties and burdens related to the experience of caring for children. Methods: A phenomenological approach was used in this qualitative study. Semi-structured and adolescents with idiopathic nephrotic syndrome (INS) in mainland China. Interviews lasting 35-90 minutes were conducted with 13 parental caregivers of youth with INS. The Colaizzi's analysis was used in data analysis. Results: The mean age of parental caregivers was 40.3 ± 6.1 years, and the average caregiving year of 3.2 ± 3.3 years. Most INS patients were male (69.2%), had a mean age of 7.6 ± 4.2 years. Based on the analysis of the data, five major themes emerged. These were: persistent emotional burden; neglected physical burden; overwhelming financial burden; absence of social support system and burden related to loss of normal life. Conclusion: Health professionals must develop strategies to provide stage-by-stage, targeted health education and psychological support services to parental caregivers of INS youth in China. The government must subsidize routine medications and frequent hospitalizations to minimize the financial burden on parental caregivers of INS youth. Moreover, anti-discrimination policies must be established to protect caregivers from explicit discrimination in public places.

19.
Chemistry ; 18(30): 9423-9, 2012 Jul 23.
Artículo en Inglés | MEDLINE | ID: mdl-22714952

RESUMEN

In this work, we utilize the galvanic displacement synthesis and make it a general and efficient method for the preparation of Au-M (M = Au, Pd, and Pt) core-shell nanostructures with porous shells, which consist of multilayer nanoparticles. The method is generally applicable to the preparation of Au-Au, Au-Pd, and Au-Pt core-shell nanostructures with typical porous shells. Moreover, the Au-Au isomeric core-shell nanostructure is reported for the first time. The lower oxidation states of Au(I), Pd(II), and Pt(II) are supposed to contribute to the formation of porous core-shell nanostructures instead of yolk-shell nanostructures. The electrocatalytic ethanol oxidation and oxygen reduction reaction (ORR) performance of porous Au-Pd core-shell nanostructures are assessed as a typical example for the investigation of the advantages of the obtained core-shell nanostructures. As expected, the Au-Pd core-shell nanostructure indeed exhibits a significantly reduced overpotential (the peak potential is shifted in the positive direction by 44 mV and 32 mV), a much improved CO tolerance (I(f)/I(b) is 3.6 and 1.63 times higher), and an enhanced catalytic stability in comparison with Pd nanoparticles and Pt/C catalysts. Thus, porous Au-M (M = Au, Pd, and Pt) core-shell nanostructures may provide many opportunities in the fields of organic catalysis, direct alcohol fuel cells, surface-enhanced Raman scattering, and so forth.

20.
Langmuir ; 28(18): 7168-73, 2012 May 08.
Artículo en Inglés | MEDLINE | ID: mdl-22501031

RESUMEN

It is a known fact that Pd-based bimetallic nanostructures possess unique properties and excellent catalytic performance. In this work, the Au-Pd alloy and core-shell nanostructures have been prepared by a simple one-pot hydrothermal coreduction route, and their formation process and mechanism are discussed in detail. A reducing capacity-induced controlled reducing mechanism is proposed for the formation process of Au-Pd bimetallic nanostructures. CTAB plays a key role in the formation of alloy Au-Pd nanostructures. When CTAB is absent, the products are typical core-shell nanostructures. Moreover, the as-prepared nanostructures exhibit excellent electrocatalytic ORR performance in alkaline media, especially for Au-Pd alloy nanostructures. The overpotential of oxygen reduction gets reduced significantly, and the peak potential is positive-shifted by 44 and 34 mV in comparison with the core-shell ones and Pd/C catalyst, respectively. Thus, the controllable preparation and excellent electrocatalytic properties will make them become a potentially cheaper Pd-based cathodic electrocatalyst for DAFCs in alkaline media.

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