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1.
Disabil Rehabil ; 46(8): 1502-1514, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-37125688

RESUMO

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.


Assuntos
Artrite Juvenil , Criança , Humanos , Adolescente , Artrite Juvenil/terapia , Terapia por Exercício/métodos , Exercício Físico , Cooperação do Paciente , Autorrelato
2.
J Multidiscip Healthc ; 16: 3749-3759, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-38076587

RESUMO

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.

3.
EMBO J ; 42(24): e114060, 2023 Dec 11.
Artigo em Inglês | MEDLINE | ID: mdl-38009297

RESUMO

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.


Assuntos
Carcinoma Hepatocelular , Neoplasias Hepáticas , Humanos , Animais , Ratos , Carcinoma Hepatocelular/metabolismo , Neoplasias Hepáticas/metabolismo , Hepatócitos , Carcinogênese/genética , Transformação Celular Neoplásica/genética , Transformação Celular Neoplásica/patologia , Terapia de Imunossupressão , Microambiente Tumoral , Fatores de Transcrição SOXF , Glicoproteínas de Membrana/genética
4.
Am J Orthod Dentofacial Orthop ; 164(3): e64-e71, 2023 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-37341669

RESUMO

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.


Assuntos
Má Oclusão , Humanos , Adulto , Feminino , Adulto Jovem , Má Oclusão/terapia , Má Oclusão/psicologia , Motivação , Estética Dentária , Assistência Odontológica , Inquéritos e Questionários , Autoimagem
5.
Orphanet J Rare Dis ; 18(1): 21, 2023 01 31.
Artigo em Inglês | MEDLINE | ID: mdl-36721237

RESUMO

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.


Assuntos
Hiperinsulinismo Congênito , Glutamato Desidrogenase , Criança , Humanos , Glutamato Desidrogenase/genética , Insulina , Hiperinsulinismo Congênito/diagnóstico , Hiperinsulinismo Congênito/genética , Mutação/genética
6.
Biomed Chromatogr ; 37(1): e5512, 2023 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-36101977

RESUMO

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.


Assuntos
Espectrometria de Massas em Tandem , Triptofano , Humanos , Triptofano/metabolismo , Espectrometria de Massas em Tandem/métodos , População do Leste Asiático , Cinurenina , Ácido Cinurênico , Cromatografia Líquida de Alta Pressão/métodos , Serotonina
7.
World J Clin Cases ; 10(30): 11031-11036, 2022 Oct 26.
Artigo em Inglês | MEDLINE | ID: mdl-36338241

RESUMO

BACKGROUND: Cri du chat syndrome (CdCS), also known as 5p deletion syndrome (5p-) is a syndrome caused by partial deletion of the 5p chromosome in human beings. The incidence accounts for 1/50000 and the cause of CdCS is related to partial deletion of chromosome 5 short arm (p). CdCS is a sporadic event. Only one case of CdCS was detected by chromosome screening in 125 and 170 pregnant Iranian women[1]. The most prominent clinical manifestations of CdCS are typical high-pitched cat calls, severe mental retardation or mental retardation and is most harmful to both language and growth retardation[2]. CdCS is a chromosome mutation disease which occurs during embryonic development and the symptoms of some cases are extremely atypical. It is difficult to make an early diagnosis and screening in clinic. We can suspect the disease from its atypical manifestations in the weak crying of cats, and chromosome karyotype analysis can find some questionable gene deletion fragments to assist the clinical diagnosis and prognosis of CdCS. CASE SUMMARY: A 2-d-old male child who was admitted to our hospital with a poor postnatal reaction and poor milk intake. The baby's crying and sucking is weak, reaction and feeding time is poor and the baby has nausea and vomiting. Karyotype analysis showed that the chromosomes were 46, XY, deletion (5) p15. Whole genome microarray analysis (named ISCN2013) showed that the chromosomes of the child were male karyotypes and contained three chromosomal abnormalities. Among them, loss of 5p15.2pter (113576-13464559) was associated with cat call syndrome. After 3 mo of follow-up, the child still vomited repeatedly, had poor milk intake, did not return to normal growth, had developmental retardation and a poor directional response. CONCLUSION: Therefore, when cat crying and laryngeal sounds occur in the neonatal period, it should be considered that they are related to CdCS. Chromosome karyotype and genome analysis are helpful for the diagnosis of CdCS.

8.
Cell Death Dis ; 13(3): 261, 2022 03 24.
Artigo em Inglês | MEDLINE | ID: mdl-35322024

RESUMO

Liver cancer arises from the evolutionary selection of the dynamic tumor microenvironment (TME), in which the tumor cell generally becomes more heterogeneous; however, the mechanisms of TME-mediated transcriptional diversity of liver cancer remain unclear. Here, we assess transcriptional diversity in 15 liver cancer patients by single-cell transcriptome analysis and observe transcriptional diversity of tumor cells is associated with stemness in liver cancer patients. Tumor-associated fibroblast (TAF), as a potential driving force behind the heterogeneity in tumor cells within and between tumors, was predicted to interact with high heterogeneous tumor cells via COL1A1-ITGA2. Moreover, COL1A1-mediated YAP-signaling activation might be the mechanistic link between TAF and tumor cells with increased transcriptional diversity. Strikingly, the levels of COL1A1, ITGA2, and YAP are associated with morphological heterogeneity and poor overall survival of liver cancer patients. Beyond providing a potential mechanistic link between the TME and heterogeneous tumor cells, this study establishes that collagen-stimulated YAP activation is associates with transcriptional diversity in tumor cells by upregulating stemness, providing a theoretical basis for individualized treatment targets.


Assuntos
Fibroblastos Associados a Câncer , Neoplasias Hepáticas , Fibroblastos Associados a Câncer/patologia , Humanos , Neoplasias Hepáticas/genética , Neoplasias Hepáticas/patologia , Transdução de Sinais , Análise de Célula Única , Microambiente Tumoral/genética
9.
Orphanet J Rare Dis ; 16(1): 467, 2021 11 04.
Artigo em Inglês | MEDLINE | ID: mdl-34736508

RESUMO

Congenital hyperinsulinism (CHI), a major cause of persistent and recurrent hypoglycemia in infancy and childhood. Numerous pathogenic genes have been associated with 14 known genetic subtypes of CHI. Adenosine triphosphate-sensitive potassium channel hyperinsulinism (KATP-HI) is the most common and most severe subtype, accounting for 40-50% of CHI cases. Short-chain 3-hydroxyacyl-coenzyme A dehydrogenase hyperinsulinism (SCHAD-HI) is a rare subtype that accounts for less than 1% of all CHI cases that are caused by homozygous mutations in the hydroxyacyl-coenzyme A dehydrogenase (HADH) gene. This review provided a systematic description of the genetic pathogenesis and current progress in the diagnosis and treatment of SCHAD-HI to improve our understanding of this disease.


Assuntos
3-Hidroxiacil-CoA Desidrogenases/genética , Hiperinsulinismo Congênito , Hiperinsulinismo , Criança , Hiperinsulinismo Congênito/diagnóstico , Hiperinsulinismo Congênito/tratamento farmacológico , Hiperinsulinismo Congênito/genética , Homozigoto , Humanos , Mutação/genética
10.
Endokrynol Pol ; 72(5): 584-585, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34292572

RESUMO

INTRODUCTION: The aim of the study was to discuss therapeutic effect and prognosis of pancreatectomy in the treatment of congenital hyperinsulinism (CHI). MATERIAL AND METHODS: A total of 23 Chinese children with CHI, who had undergone pancreatectomy, were selected as the study objects. The clinical data, the results of the ¹8Fluoro-L-3-4 dihydroxyphenylalanine positron emission tomography/computerized tomography (¹8F-DOPA PET/CT) scanning, and the diagnosis, treatment, and follow-up were analysed retrospectively. RESULTS: Among the 23 cases, 14 patients were diagnosed with focal-type CHI via a ¹8F-DOPA PET/CT scan prior to the operation, with the lesions removed via partial pancreatectomy. After the operation, ten patients (71%) had normal blood glucose levels, while frequent feeding was required in four patients (29%) to control the hypoglycaemia. Three cases were diagnosed as diffuse-type CHI via preoperative scanning, two of which were treated by subtotal pancreatectomy. The other case was treated by near-total pancreatectomy, and the blood glucose level was normal following the operation. The remaining six cases were not diagnosed via the pancreatic scanning prior to the operation due to the limitation of certain conditions. Here, pancreatectomy was performed directly due to severe hypoglycaemia. CONCLUSIONS: ¹8F-DOPA PET/CT scanning was a reliable method for determining the histological type and localizing the lesion before the operation. Partial pancreatectomy for focal-type CHI had a high cure rate.


Assuntos
Hiperinsulinismo Congênito/diagnóstico por imagem , Hiperinsulinismo Congênito/cirurgia , Pancreatectomia , Tomografia por Emissão de Pósitrons combinada à Tomografia Computadorizada/métodos , Tomografia Computadorizada por Raios X/métodos , Povo Asiático , Glicemia , Criança , China , Hiperinsulinismo Congênito/diagnóstico , Di-Hidroxifenilalanina/administração & dosagem , Feminino , Humanos , Masculino , Pancreatectomia/efeitos adversos , Compostos Radiofarmacêuticos , Estudos Retrospectivos
11.
Iran J Public Health ; 50(5): 1056-1064, 2021 May.
Artigo em Inglês | MEDLINE | ID: mdl-34183964

RESUMO

BACKGROUND: To observe the relationship between Tumor Necrosis Factor-alpha (TNF-α) and Neuropeptide Y (NPY) expression and neurological function score in epileptic children. METHODS: Fifty-four epileptic children diagnosed and treated in Xuzhou Children's Hospital, China from Feb 2017 to Mar 2018 were collected and included in a research group (RG), while 30 healthy children who underwent physical examination at the same time were included in the control group (CG). ELISA was used to detect the expression of TNF-α and NPY in the serum of children in the two groups, and those before treatment were compared. The National Institute of Health stroke scale (NIHSS) and Hamilton Anxiety (HAMA) scores before and after treatment were observed, and Pearson correlation was used to analyze the relationship between the expression levels of TNF-α and NPY in the serum as well as NIHSS and HAMA scores. RESULTS: The expression levels of TNF-α and NPY in the serum of children in the RG were significantly higher than those in the CG (P<0.001). The expression level of TNF-α was positively correlated with the NIHSS and HAMA scores (r=0.748, P<0.001) (r=0.772, P<0.001). The expression level of NPY was positively correlated with the NIHSS and HAMA scores (r=0.768, P<0.001) (r=0.643, P<0.001). CONCLUSION: TNF-α and NPY are highly expressed in epileptic children and are positively correlated with neurological function score.

12.
Ann Palliat Med ; 10(5): 5706-5713, 2021 May.
Artigo em Inglês | MEDLINE | ID: mdl-34107714

RESUMO

BACKGROUND: At present, the treatment of acute ischaemic stroke (AIS) by aticepase (rt-PA) in emergency veins has become the main treatment mode in hospital, but the research on early hemorrhage complications in patients with emergency thrombolysis is rarely reported. This research aims to study the earlier warning index of early hemorrhage complications in patients with emergency thrombolysis. METHODS: A retrospective analysis was performed on the clinical data of rt-PA intravenous thrombolysis-treated AIS patients in the advanced stroke center of the emergency department of a tertiary grade hospital from January 2018 to May 2020. Patients were divided into a hemorrhage group and non-hemorrhage group according to the hemorrhage situation within 24 hours after thrombolytic therapy. The differences between the 2 groups in terms of pre-thrombolysis risk factors were analyzed. Logistic regression analysis was used to analyze the independent risk factors associated with post-thrombolysis hemorrhage. RESULTS: After intravenous thrombolysis, the hemorrhage group had 91 cases and the non-hemorrhage group had 146 cases. Logistic regression analysis showed that atrial fibrillation, systolic blood pressure before thrombolysis, platelet count, and antiplatelet drugs were independent risk factors for hemorrhage after intravenous thrombolysis (P<0.05). CONCLUSIONS: Patients with AIS have a higher incidence of hemorrhage after intravenous thrombolysis. Atrial fibrillation, systolic blood pressure before thrombolysis, platelet count, and antiplatelet drugs were independent risk factors for hemorrhage after intravenous thrombolysis. These independent risk factors can provide a basis for clinical nurses to evaluate hemorrhage risk in AIS patients after intravenous thrombolysis.


Assuntos
Isquemia Encefálica , AVC Isquêmico , Acidente Vascular Cerebral , Isquemia Encefálica/tratamento farmacológico , Serviço Hospitalar de Emergência , Fibrinolíticos/efeitos adversos , Hemorragia , Humanos , Estudos Retrospectivos , Fatores de Risco , Acidente Vascular Cerebral/tratamento farmacológico , Terapia Trombolítica/efeitos adversos , Resultado do Tratamento
13.
World J Clin Cases ; 9(13): 3130-3139, 2021 May 06.
Artigo em Inglês | MEDLINE | ID: mdl-33969100

RESUMO

BACKGROUND: Acute urinary retention (AUR) is rare during pregnancy. CASE SUMMARY: We report on three pregnant women with AUR between the 10th and 18th wk of gestation. Case 1 was first diagnosed as urinary tract infection and developed a urinary tract infection due to urinary retention caused by urethral obstruction. Case 2 had a history of previous abdominal surgery for pelvic tuberculosis, leading to severe adhesions and a persistent retroverted uterus. In case 3, healthcare providers focused on the patient's gastrointestinal symptoms and did not investigate her inability to void. Case 1 required manual disimpaction of the uterus and the knee-chest position. The other cases required immediate catheterization. The condition resolved in cases 1 and 2; these patients had normal pregnancies. Case 3 had severe complications at the time of consultation, leading to an abortion. CONCLUSION: Retroverted uterus is the most common cause of AUR. Prompt recognition and diagnosis are required. Clinicians should be aware of the risk factors, etiology, and clinical presentation of AUR in the first and second trimester of pregnancy.

14.
Cancer Res ; 81(11): 3036-3050, 2021 06 01.
Artigo em Inglês | MEDLINE | ID: mdl-33619115

RESUMO

Most primary liver cancer (PLC) cases progress mainly due to underlying chronic liver inflammation, yet the underlying mechanisms of inflammation-mediated PLC remain unclear. Here we uncover a TNF receptor II (TNFR2)-hnRNPK-YAP signaling axis in hepatic progenitor cells (HPC) essential for PLC development. TNFR2, but not TNF receptor I (TNFR1), was required for TNFα-induced activation of YAP during malignant transformation of HPCs and liver tumorigenesis. Mechanistically, heterogeneous nuclear ribonuclear protein K (hnRNPK) acted downstream of TNFα-TNFR2 signaling to directly interact with and stabilize YAP on target gene promoters genome-wide, therefore coregulating the expression of YAP target genes. Single-cell RNA sequencing confirmed the association of TNFR2-hnRNPK with YAP expression and the pathologic importance of HPC. Accordingly, expressions of TNFR2, hnRNPK, and YAP were all upregulated in PLC tissues and were strongly associated with poor prognosis of PLC including patient survival. Collectively, this study clarifies the differential roles of TNFRs in HPC-mediated tumorigenesis, uncovering a TNFR2-hnRNPK-centered mechanistic link between the TNFα-mediated inflammatory milieu and YAP activation in HPCs during PLC development. SIGNIFICANCE: This work defines how hnRNPK links TNFα signaling and Hippo pathway transcription coactivator YAP in hepatic progenitor cells during primary liver tumorigenesis.


Assuntos
Proteínas de Ciclo Celular/metabolismo , Regulação Neoplásica da Expressão Gênica , Ribonucleoproteínas Nucleares Heterogêneas Grupo K/metabolismo , Neoplasias Hepáticas/tratamento farmacológico , Neoplasias Hepáticas/patologia , Receptores Tipo II do Fator de Necrose Tumoral/metabolismo , Células-Tronco/patologia , Fatores de Transcrição/metabolismo , Animais , Apoptose , Biomarcadores Tumorais/genética , Biomarcadores Tumorais/metabolismo , Proteínas de Ciclo Celular/genética , Proliferação de Células , Feminino , Ribonucleoproteínas Nucleares Heterogêneas Grupo K/genética , Humanos , Neoplasias Hepáticas/genética , Prognóstico , Ratos , Ratos Sprague-Dawley , Receptores Tipo II do Fator de Necrose Tumoral/genética , Transdução de Sinais , Células-Tronco/metabolismo , Fatores de Transcrição/genética , Células Tumorais Cultivadas , Fator de Necrose Tumoral alfa/genética , Fator de Necrose Tumoral alfa/metabolismo
15.
Endocrine ; 72(1): 116-123, 2021 04.
Artigo em Inglês | MEDLINE | ID: mdl-33502730

RESUMO

OBJECTIVE: This study aimed to analyze the clinical and genetic characteristics of Chinese children with congenital hyperinsulinemia (CHI) that is spontaneously relieved. METHODS: The patient group comprised 200 children with CHI that were treated at the Beijing Children's Hospital from January 2006 to December 2018. The patients were divided into two groups according to their prognosis: the spontaneous remission group (n = 92) and the nonspontaneous remission group (n = 108). The clinical characteristics, pathogenic genes, diagnosis and treatment process, and follow-up data of both groups were analyzed retrospectively. RESULTS: Of the 200 children with CHI, 92 achieved spontaneous remission. The age of spontaneous remission was between one month and nine years, and 47 of the children were relieved before the age of one year. The median age of onset was 85 days (range: 1-2825 days) in the spontaneous remission group and 2 days (range: 1-210 days) in the nonspontaneous remission group (P < 0.05). The mean birth weight was 3.44 ± 0.76 kg for the spontaneous remission group and 3.95 ± 0.75 kg for the nonspontaneous remission group (P < 0.05). Of the 92 children in the spontaneous remission group, 65 were treated with diazoxide with effective rate of 81.5% (53/65). In 12 cases in which diazoxide treatment failed, octreotide was used with an effective rate of 83.3% (10/12). Of the 108 children in the nonspontaneous remission group, 88 were treated with diazoxide with an effective rate of 43.2 % (38/88), and 29 children were treated with octreotide with an effective rate of 48.28% (14/29). Of the 30 children in the spontaneous remission group that underwent mutation analysis of CHI-related pathogenic genes, 10 children (10/30, 33.3%) carried mutations. Of the 48 children in the nonspontaneous remission group that underwent mutation analysis of CHI-related pathogenic genes, 37 children (37/48, 77.1%) were found to carry mutations. All of the differences in the indices mentioned above were statistically significant. CONCLUSIONS: The rate of spontaneous remission of CHI was significantly higher in children with late age of CHI onset, light birth weight, effective diazoxide treatment, and no common pathogenic gene mutations. Spontaneous remission was also possible for a small number of children that carried mutations in the ABCC and KCNJ11 genes and in whom diazoxide treatment failed.


Assuntos
Hiperinsulinismo Congênito , Criança , China , Hiperinsulinismo Congênito/tratamento farmacológico , Hiperinsulinismo Congênito/genética , Análise Mutacional de DNA , Diazóxido/uso terapêutico , Humanos , Lactente , Mutação , Estudos Retrospectivos
16.
Horm Metab Res ; 53(1): 49-55, 2021 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-32886944

RESUMO

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.


Assuntos
Diabetes Mellitus Tipo 2/enzimologia , Diabetes Mellitus Tipo 2/genética , Estudos de Associação Genética , Predisposição Genética para Doença , Lipase Lipoproteica/genética , Polimorfismo Genético , Diabetes Mellitus Tipo 2/sangue , Humanos , Lipídeos/sangue , Modelos Genéticos , Polimorfismo de Nucleotídeo Único/genética , Fatores de Risco
17.
Z Rheumatol ; 80(10): 1004-1009, 2021 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-33258022

RESUMO

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.


Assuntos
Mídias Sociais , Espondilite Anquilosante , China , Estudos Transversais , Terapia por Exercício , Humanos , Reprodutibilidade dos Testes , Espondilite Anquilosante/terapia , Gravação em Vídeo
18.
Am J Transl Res ; 12(10): 6599-6607, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33194056

RESUMO

OBJECTIVE: This study aims to report the clinical features and gene mutation of a rare MODY10 patient in China. METHODS: This study summarizes the clinical data of a MODY10 child in the Endocrine Department of our hospital and an analysis and discussion of the results of the gene sequencing of the child. RESULTS: The child was a two-year-old boy. The main reason for his visit to our hospital was "founding hyperglycemia for 3 days". The fasting blood glucose was between 8.1-10.7 mmol/L, and two-hour postprandial blood glucose was between 10.6-12.6 mmol/L. Glycosylated hemoglobin was 8.5%, fasting C-peptide was 0.6 ng/mL, fasting insulin was 2.9 µIU/mL, and the islet antibody series were all negative. Whole-genome/exon sequencing results: Exon 3 of the insulin gene in the child carried a c.309-314del CCAGCT insGCGC heterozygous mutation. The mutation was a nonsense mutation, and family sequencing showed that the mutation originated from the mother of the child. The mother of the child was diagnosed with diabetes when she was a year old and developed bilateral fundus hemorrhage and right retinal detachment at the age of 23. CONCLUSION: Among Chinese children, the insulin gene c.309-314del CCAGCT insGCGC mutation may induce MODY10. For diabetic children with a negative islet autoantibody, gene detection and analysis is helpful for the diagnosis and typing of MODY.

19.
Future Oncol ; 16(25): 1921-1930, 2020 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-32915667

RESUMO

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.


Assuntos
Processamento Alternativo , Biomarcadores Tumorais , Cistadenocarcinoma Seroso/etiologia , Cistadenocarcinoma Seroso/mortalidade , Proteína 7 com Repetições F-Box-WD/genética , Regulação Neoplásica da Expressão Gênica , Neoplasias Ovarianas/etiologia , Animais , Linhagem Celular Tumoral , Cistadenocarcinoma Seroso/metabolismo , Cistadenocarcinoma Seroso/patologia , Modelos Animais de Doenças , Tubas Uterinas/metabolismo , Feminino , Humanos , Estimativa de Kaplan-Meier , Camundongos , Metástase Neoplásica , Estadiamento de Neoplasias , Neoplasias Ovarianas/metabolismo , Neoplasias Ovarianas/patologia , Prognóstico , Isoformas de RNA , RNA Mensageiro/genética , Ensaios Antitumorais Modelo de Xenoenxerto
20.
Nanoscale ; 12(37): 19404-19412, 2020 Oct 01.
Artigo em Inglês | MEDLINE | ID: mdl-32955068

RESUMO

Electrocatalytic water decomposition is the key to sustainable energy, and the design and synthesis of cost-effective electrocatalysts is the main objective of electrocatalytic water splitting. In this paper, multi-interfacial FeOOH@NiCo2O4 hybrid nanoflowers are prepared through a two-step hydrothermal reaction. In such heterostructures, NiCo2O4 nanoflowers are coated with a layer of FeOOH nanoparticles. In addition, the obtained electrocatalyst could provide abundant electroactive sites and the formation of FeOOH@NiCo2O4 nanointerfaces can also improve the charge transfer rate. As a result, under the HER and OER conditions, the prepared catalysts show an outstanding electrocatalytic performance. Moreover, in a two-electrode water splitting system, the FeOOH@NiCo2O4 heterostructure, as a dual-function electrocatalyst, needs a cell voltage of only 1.58 V at a current density of 10 mA cm-2. This study provides a facile and feasible method to construct different kinds of heterostructures as bifunctional electrocatalysts with multiple interfaces by a simple hydrothermal method.

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