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1.
Heliyon ; 10(9): e29803, 2024 May 15.
Artigo em Inglês | MEDLINE | ID: mdl-38694069

RESUMO

Background: Timely bystander cardiopulmonary resuscitation is the key to improving the survival rate of out-of-hospital cardiac arrest. Civil servants are potential bystander CPR providers. This study aimed to explore civil servants' willingness to implement CPR in Chongqing, identify the influencing factors and mechanisms affecting civil servants' willingness to perform CPR, and then seek countermeasures to improve civil servants' willingness to implement CPR. Methods: We introduced the theory of perceived risk into the theory of planned behavior, developed a 7-point Likert scale based on the extended theory of planned behavior, and conducted a questionnaire survey on civil servants in Chongqing, China. Descriptive statistical analysis and one-way ANOVA were employed to explore respondents' willingness and differences. Structural equation modeling was used to analyze the relationship between attitude, subjective norm, perceived behavioral control and perceived risk and respondents' willingness to implement CPR. Results: A total of 1235 valid questionnaires were included for analysis. 50.1 % of respondents were willing to implement CPR. Male, over 40 years old, living with the elderly, having previous experience performing CPR on another person, and having higher CPR knowledge scores were associated with a more positive willingness to perform CPR. Attitude, subjective norm and perceived behavioral control had significant positive effects on willingness, and the standardized regression coefficients were 0.164, 0.326 and 0.313, respectively. The perceived risk has a significant negative effect on willingness, and the standardized regression coefficient was -0.109. The four latent variables accounted for 44.2 % of the variance in the willingness of civil servants to implement CPR. Conclusions: The willingness of civil servants in Chongqing to implement CPR needs to be improved, and the countermeasures to enhance the subjective norm and perceived behavioral control of civil servants should be emphasized, such as developing a social support network for rescuing conduct, establishing regular training mechanisms and improving the practical applicability and popularization of the Chinese-style "Good Samaritan Law" etc., to improve the willingness of civil servants in Chongqing to implement CPR.

2.
Chemosphere ; 358: 142175, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38679173

RESUMO

Carbamazepine (CBZ) is a widely used anticonvulsant drug that has been detected in aquatic environments. This study investigated the toxicity of its by-products (CBZ-BPs), which may surpass CBZ. Unlike the previous studies, this study offered a more systematic approach to identifying toxic BPs and inferring degradation pathways. Furthermore, quadrupole time-of-flight (QTOF) and density functional theory (DFT) calculations were employed to analyze CBZ-BP structures and degradation pathways. Evaluation of total organic carbon (TOC) and total nitrogen (TN) mineralization rates, revealed carbon (C) greater susceptibility to mineralization compared with nitrogen (N). Furthermore, three rules were established for CBZ decarbonization and N removal during degradation, observing the transformation of aromatic compounds into aliphatic hydrocarbons and stable N-containing organic matter over time. Five potentially highly toxic BPs were screened from 14 identified BPs, with toxicity predictions guiding the selection of commercial standards for quantification and true toxicity testing. Additionally, BP207 emerged as the most toxic, supported by the predictive toxicity accumulation model (PTAM). Notably, highly toxic BPs feature an acridine structure, indicating its significant contribution to toxicity. These findings offered valuable insights into the degradation mechanisms of emerging contaminants and the biosafety of aquatic environments during deep oxidation.


Assuntos
Carbamazepina , Peróxido de Hidrogênio , Poluentes Químicos da Água , Carbamazepina/toxicidade , Carbamazepina/química , Poluentes Químicos da Água/toxicidade , Peróxido de Hidrogênio/química , Raios Ultravioleta , Nitrogênio , Anticonvulsivantes/toxicidade , Anticonvulsivantes/química
3.
BMJ Open ; 14(1): e078987, 2024 01 18.
Artigo em Inglês | MEDLINE | ID: mdl-38238051

RESUMO

BACKGROUND: Chongqing, the most populous city in Southwest China. This study aims to examine the equity of health resource allocation in Chongqing using the latest statistics, analyse possible shortcomings and propose strategies to address these issues. METHODS: This cross-sectional study used healthcare resource, population, area and gross domestic product data from the Seventh National Census Bulletin of Chongqing, the National County Statistical Yearbook, the Chongqing Municipal Bureau of Statistics and the Chongqing Health Statistical Yearbook 2022. We also studied the equity of health resource allocation in Chongqing by using the Gini coefficient, Lorenz curve and Theil index, and used the Analytical Hierarchy Process and Technique for Order of Preference by Similarity to Ideal Solution (AHP-TOPSIS) method to comprehensively evaluate the health resources in the four major regions of Chongqing. RESULTS: The Gini coefficient of health resources in Chongqing in 2021 was the highest when allocated according to geographical area, between 0.4285 and 0.6081, both of which exceeded 0.4, and the Gini coefficient of medical equipment was the highest and exceeded 0.6. The inter-regional Theil index of each resource was greater than the intraregional Theil index, and the contribution of inter-regional differences ranged from 64.83% to 80.21%. The results of the AHP-TOPSIS method showed that the relative proximity between health resources and ideal solutions in four regions of Chongqing ranged from 0.0753 to 0.9277. CONCLUSION: The allocation of health resources in Chongqing exhibits pronounced inequities, particularly in the distribution of medical equipment according to geographical area. Moreover, there exists a substantial gap in the equity of health resource allocation among the four regions of Chongqing. As such, this study emphasises the need for Chongqing, China, to prioritise the equitable allocation of health resources and increase consideration of geographic factors. Implementing measures to promote equitable allocation of health resources, particularly in geographic terms, is critical.


Assuntos
Equidade em Saúde , Recursos em Saúde , Humanos , Estudos Transversais , Alocação de Recursos , China , Instalações de Saúde
4.
Chemosphere ; 336: 139245, 2023 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-37330068

RESUMO

Drawing on the robust activation activity and affinity that transition metal ions and MoS2 exhibit towards peroxymonosulfate (PMS), 1T/2H hybrid molybdenum disulfide doped with Fe3+ (Fe3+/N-MoS2) was synthesized to activate PMS for the treatment of organic wastewater. The ultrathin sheet morphology and 1T/2H hybrid nature of Fe3+/N-MoS2 were confirmed by characterization. The (Fe3+/N-MoS2 + PMS) system demonstrated excellent performance in the degradation of carbamazepine (CBZ) above 90% within 10 min even under high salinity conditions. By electron paramagnetic resonance and active species scavenging experiments, it was inferred that SO4•─ palyed a dominant role in the treatment process. The strong synergistic interactions between 1T/2H MoS2 and Fe3+ efficiently promoted PMS activation and generated active species. Additionally, the (Fe3+/N-MoS2 + PMS) system was found to be capable of high activity for CBZ removal in high salinity natural water, and Fe3+/N-MoS2 exhibited high stability during recycle tests. This new strategy of Fe3+ doped 1T/2H hybrid MoS2 for more efficient PMS activation provides valuable insights for the removal of pollutants from high salinity wastewater.


Assuntos
Molibdênio , Águas Residuárias , Salinidade , Peróxidos , Carbamazepina
5.
Planta Med ; 89(7): 729-734, 2023 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-36513370

RESUMO

The bulbs of Allium sativum known as garlic are widely used as food or seasoning. In China they have been used as a traditional Chinese medicine (TCM) since ancient times for the treatment of scabies, tuberculosis, pertussis, diarrhea and dysentery. A. sativum has reportedly shown platelet aggregation inhibition and has been used in the treatment of cardiovascular diseases. However, there are only few studies focussing on the aerial parts, which are normally discarded during harvest. In this study, two new ionone glycosides, dasuanxinosides D and E (1, 2: ), are isolated from the aerial parts together with 13 known compounds including alkanes derivatives and alkyl glycosides (3 - 15: ), which are reported for the first time from this plant. Their structures are identified by extensive NMR and HRMS analyses. The isolated compounds are evaluated for their inhibitory effect on adenosine diphosphate (ADP)-induced platelet aggregation in vitro.


Assuntos
Alho , Alho/química , Norisoprenoides/farmacologia , Glicosídeos/farmacologia , Agregação Plaquetária , Componentes Aéreos da Planta
6.
Front Public Health ; 10: 964248, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36504965

RESUMO

Background: Since 1987, the Chinese government has promoted public mental health by continuously implementing mental health related policies. This research attempts to reveal the distribution and characteristics of mental health related policies. In addition, it can help stakeholders evaluate whether the environment for policy implementation has improved and identify key points in the development of the overall mental health system. Methods: We used a bibliometric approach to analyze the evolution of mental health related policies in China from 1987 to 2020. A total of 239 mental health related policies were collected from Beida Fabao and official Internet websites of governmental departments. Co-wording, social networks, and citation analysis were applied to explore the evolutionary features of such policies. Results: The evolution of policy development showed that the number of mental health related policies in China has been increasing and their content has been enriched. Over time, mental health related policies not only gradually expanded its focus on common mental disorders, but also included an increasing number of keywords related to service provision, organization and administration. However, most policies were implemented independently by separate agencies and the number of policies jointly implemented by different agencies only accounted for 32.64% of all the policies implemented. The Ministry of Health (MOH) is at the core of the collaborative network associated with implementing mental health related policies in China. Conclusion: The environment associated with the implementation of mental health related policies in China is gradually improving. However, cross-sector collaboration among different agencies needs to be strengthened and financial support for related resources needs more attention. A clear division of responsibilities among various agencies and a sustainable financing mechanism are essential to the development and implementation of mental health related policies.


Assuntos
Política de Saúde , Saúde Mental , Humanos , Bibliometria , China , Governo
7.
Nutrients ; 14(19)2022 Oct 08.
Artigo em Inglês | MEDLINE | ID: mdl-36235839

RESUMO

OBJECT: The correct use of nutrition labels for prepackaged food helps university students develop healthy eating habits and prevent the occurrence of chronic non-communicable diseases. This study evaluates the understanding and use of nutrition labels of prepackaged food by university students in four different fields of study in Chongqing, China. METHODS: This cross-sectional study used an online survey platform conducted in July 2022 in colleges and universities in Chongqing, China. The convenience sampling method was used to select students in four different fields of study, including medicine, humanities, science and technology, and arts and sports. Ten questions were used to assess participants' understanding of nutrition labels. A score of six or above (60%) indicates that the respondent has a basic understanding of the nutritional labels of prepackaged food. Descriptive statistics and generalized linear models (GLMs) were used to assess participants' understanding and use of nutrition labels for prepackaged foods and their influencing factors. RESULTS: A total of 1262 valid questionnaires was collected. The average age of the participants was 21.8 years (SD: 2.43), 50.1% were male, 80.8% were ethnic Han, and 50.9% were from rural areas. Only 21.3% of the university students in Chongqing had a good understanding of the nutrition labels of prepackaged food, where medical students were the highest (39.9%) and science and engineering students were the lowest (15.6%). Gender, ethnicity, grade, major, and whether received courses related to nutrition were influential factors in the understanding and use of nutrition labels of prepackaged food. Medical students also had more positive attitudes toward nutritional labels of prepackaged food. CONCLUSIONS: Understanding and use of nutrition labels for prepackaged food by university students in Chongqing are unsatisfactory. Student's major was a significant influencing factor in nutrition label comprehension, with medical students having the greatest understanding. Based on these results, we suggest that nutrition and health courses should be popularized among non-medical students to narrow the differences between different fields of study. For university students in all fields of study, education and publicity of nutrition labels of prepackaged food are needed, not only in the classroom but also in daily life.


Assuntos
Conhecimentos, Atitudes e Prática em Saúde , Estudantes de Medicina , Adulto , China , Estudos Transversais , Feminino , Rotulagem de Alimentos , Humanos , Masculino , Inquéritos e Questionários , Universidades , Adulto Jovem
8.
Front Public Health ; 10: 826800, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35309188

RESUMO

Background: The World Health Organization has proposed an initiative to "end tuberculosis (TB)." Unfortunately, TB continues to endanger the health of people worldwide. We investigated the impact of public health services (PHS) in China on TB incidence. In this way, we provided policy ideas for preventing the TB epidemic. Methods: We used the "New Public Management Theory" to develop two indicators to quantify policy documents: multisector participation (MP) and the Assessable Public Health Service Coverage Rate (ASCR). The panel data from 31 provinces in Chinese mainland were collected from 2005 to 2019 based on 1,129 policy documents and the China Statistical Yearbook. A fixed-effect model was used to determine the impact of MP and the ASCR on TB incidence. Results: From 2005 to 2019, the average MP increased from 89.25 to 97.70%, and the average ASCR increased from 53.97 to 78.40% in Chinese mainland. However, the development of ASCR between regions was not balanced, and the average level in the western region was lower than that in the eastern coastal provinces. With an increase in MP and the ASCR, the TB incidence had been decreasing gradually in recent years. The panel analysis results showed that MP (ß = -0.76, p < 0.05). and ASCR (ß = -0.40, p < 0.01) had a negative effect on TB incidence, respectively. Even if the control variables were added, the negative effects of MP (ß = -0.86, p < 0.05) and ASCR (ß = -0.35, p < 0.01) were still statistically significant. Conclusions: Promoting the participation of multiple departments, as well as emphasizing the quality of PHS delivery, are important ways to alleviate the TB epidemic. The settings of evaluation indices for PHS provision should be strengthened in the future.


Assuntos
Objetivos , Tuberculose , China/epidemiologia , Serviços de Saúde , Humanos , Tuberculose/epidemiologia , Tuberculose/prevenção & controle , Organização Mundial da Saúde
9.
Nat Prod Res ; 36(23): 5940-5949, 2022 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-35263203

RESUMO

Three new flavonoid glycosides, Dasuanxinoside F-H (1-3), were isolated from the aerial parts of Allium sativum, together with eight known compounds which were firstly reported in this plant, including three flavonoid glycosides (4-6) and five phenylethanoid glycosides (7-11). Their structures were identified by UV-vis, IR, 1D and 2D NMR spectra, as well as HR-ESI-MS analyses. The inhibitory effect of the isolated compounds on platelet aggregation induced by adenosine diphosphate (ADP) was evaluated in vitro. The results showed that most compounds displayed different degrees of inhibition. Among them, 2, 5, 8 and 9 exhibited the strongest activity on platelet aggregation.


Assuntos
Alho , Glicosídeos , Glicosídeos/química , Alho/química , Flavonoides/química , Agregação Plaquetária , Componentes Aéreos da Planta/química , Estrutura Molecular
10.
J Glob Health ; 12: 11002, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35356653

RESUMO

Background: Creating an enabling environment (EE) can help foster the development and health of children. The Chinese government implemented a new health care reform (NHR) in 2009 in a move to promote an EE for health. The purpose of this study was to evaluate the impact of the NHR on EE for children's health. Methods: An interrupted time-series analysis was used to evaluate the changes in the EE before and after 2009 in China. This study analysed the EE through five quantitative indicators, including policy element coverage rate (PECR), service meeting with children's needs rate (SMCNR), multisector participation rate (MPR), and accountability mechanism clarity rate (AMCR), based on the content analysis of available public policy documents (updated as of 2019) from 31 provinces in mainland China, and the number of health care personnel of maternity and child care centres per 10 000 population (HP per 10 000 population), based on the 2002-2019 China Health Statistical Yearbook and China Statistical Yearbook. Results: The average values of PECR, SMCNR, and MPR increased rapidly to 90.96%, 82.46%, and 81.31%, respectively, in 2019, representing a higher value compared to the AMCR (7.38%). The NHR promoted the EE, in which HP per 10 000 population showed the fastest increase (ß1 = 0.03, P < 0.01; ß3 = 0.10, P < 0.01), followed by SMCNR (ß1 = 0.94, P < 0.01; ß3 = 1.83, P < 0.01), AMCR (ß1 = 0.13, P < 0.01; ß3 = 0.24, P = 0.14), MPR (ß1 = 1.35, P < 0.01; ß3 = 2.47, P < 0.01) and PECR (ß1 = 1.43, P < 0.01; ß3 = 1.47, P < 0.01). Conclusions: The NHR has a positive impact on the EE, especially on the human resources and service provision for children. Efforts should be intensified to improve the clarity of the accountability mechanism of the health-related sectors.


Assuntos
Saúde da Criança , Reforma dos Serviços de Saúde , Criança , China , Feminino , Humanos , Análise de Séries Temporais Interrompida , Gravidez
11.
Healthcare (Basel) ; 9(8)2021 Aug 18.
Artigo em Inglês | MEDLINE | ID: mdl-34442195

RESUMO

Regional regulatory policies (RPs) are a major factor in the prevention and control of chronic diseases (PCCDs) through the implementation of various measures. This study aimed to explore the impacts of RPs on PCCDs, with a focus on the mediating roles of community service. The soundness of the regulatory mechanism (SORM) was used to measure the soundness of RPs based on 1095 policy documents (updated as of 2015). Coverage provided by community service institutions (CSIs) and community health centres (CHCs) was used to represent community service coverage derived from the China Statistical Yearbook (2015), while the number of chronic diseases (NCDs) was used to measure the effects of PCCDs based on data taken from the 2015 China Health and Retirement Longitudinal Study survey. To assess the relationship between SORM, NCDs and community service, a negative binomial regression model and mediation analysis with bootstrapping were conducted. Results revealed that there was a negative correlation between SORM and NCDs. CSIs had a major effect on the relationship between RPs and PCCDs, while CHCs had a partial mediating effect. RPs can effectively prevent and control chronic diseases. Increased effort should also be aimed at strengthening the roles of CSIs and CHCs.

12.
Artigo em Inglês | MEDLINE | ID: mdl-33920527

RESUMO

This study aimed to analyze the changes in the 10 major categories of women's healthcare services (WHSs) in Shanghai (SH) and New York City (NYC) from 1978 to 2017, and examine the relationship between these changes and maternal mortality ratio (MMR). Content analysis of available public policy documents concerning women's health was conducted. Two indicators were designed to represent the delivery of WHSs: The essential women's healthcare service coverage rate (ESCR) and the assessable essential healthcare service coverage rate (AESCR). Spearman correlation was used to analyze the relationship between the two indicators and MMR. In SH, the ESCR increased from 10% to 90%, AESCR increased from 0% to 90%, and MMR decreased from 24.0/100,000 to 1.01/100,000. In NYC, the ESCR increased from 0% to 80%, the AESCR increased from 0% to 60%, and the MMR decreased from 24.7/100,000 to 21.4/100,000. The MMR significantly decreased as both indicators increased (p < 0.01). Major advances have been made in women's healthcare in both cities, with SH having a better improvement effect. A common shortcoming for both was the lack of menopausal health service provision. The promotion of women's health still needs to receive continuous attention from governments of SH and NYC. The experiences of the two cities showed that placing WHSs among policy priorities is effective in improving service status.


Assuntos
Atenção à Saúde , Serviços de Saúde , China/epidemiologia , Cidades , Feminino , Humanos , Cidade de Nova Iorque/epidemiologia , Políticas
13.
Chin Med J (Engl) ; 133(7): 792-799, 2020 Apr 05.
Artigo em Inglês | MEDLINE | ID: mdl-32149767

RESUMO

BACKGROUND: Regulatory policy (RP) is known as a major factor to improve health care system performance. A significant difference in maternal mortality rates (MMRs) was observed between New York city (NYC) and Shanghai (SH), both first-class international metropolises. This study aims to adopt a quantitative evaluation model to analyze whether RP differences contribute to the different MMRs of the two cities. METHODS: Based on collection of all publicly released policy documents regarding maternal health in the two cities, we assessed and compared the status of their maternal health care RPs from 2006 to 2017 through a series of quantitative indicators as regulatory elements coverage rate (RECR), departmental responsibility clarity rate (DRCR), and accountability mechanism clarity rate (AMCR), based on two characteristics of comprehensiveness and effectiveness of RPs. Pearson correlation analysis, principal component analysis, and linear regression analysis were used to test the relationships between the indicators and MMR in SH and NYC. RESULTS: By 2017, disparities of maternal health care RP are found between SH and NYC, from the indicators of RECR (100% vs. 77.0%), DRCR (38.9% vs. 45.1%), and AMCR (29.2% vs. 22.5%). From 2006 to 2017, RECR, DRCR, and AMCR in SH have shown a higher growth of 8.7%, 53.2%, and 45.2%, compared with growth of 25.0%, 12.5%, and 2.9% in NYC. The three indicators were found all negatively correlated with MMR in SH (Coefficients = -0.831, -0.833, and -0.909, and P < 0.01), while only RECR and DRCR had negative correlation with MMR in NYC (Coefficients = -0.736 and -0.683, and P < 0.05). Linear regression showed that the principal components of the three indicators were found with significant impact on MMRs both in SH (R = 0.914, R = 0.836, P < 0.001) and NYC (R = 0.854, R = 0.357, P = 0.04). CONCLUSION: Compared with NYC, the more comprehensive and effective maternal health care RPs in SH had a stronger impact on MMR control, which contributed to the differences between the two cities' MMRs to some extent. The methods and indicators we adopted for assessment are reasonable and comparable.


Assuntos
Mortalidade Materna , China , Cidades , Feminino , Humanos , Modelos Lineares , Cidade de Nova Iorque , Gravidez , Análise de Regressão
14.
Proc Natl Acad Sci U S A ; 117(10): 5472-5477, 2020 03 10.
Artigo em Inglês | MEDLINE | ID: mdl-32086392

RESUMO

Studies on myotonic dystrophy type 1 (DM1) have led to the RNA-mediated disease model for hereditary disorders caused by noncoding microsatellite expansions. This model proposes that DM1 disease manifestations are caused by a reversion to fetal RNA processing patterns in adult tissues due to the expression of toxic CUG RNA expansions (CUGexp) leading to decreased muscleblind-like, but increased CUGBP1/ETR3-like factor 1 (CELF1), alternative splicing activities. Here, we test this model in vivo, using the mouse HSALR poly(CUG) model for DM1 and recombinant adeno-associated virus (rAAV)-mediated transduction of specific splicing factors. Surprisingly, systemic overexpression of HNRNPA1, not previously linked to DM1, also shifted DM1-relevant splicing targets to fetal isoforms, resulting in more severe muscle weakness/myopathy as early as 4 to 6 wk posttransduction, whereas rAAV controls were unaffected. Overexpression of HNRNPA1 promotes fetal exon inclusion of representative DM1-relevant splicing targets in differentiated myoblasts, and HITS-CLIP of rAAV-mycHnrnpa1-injected muscle revealed direct interactions of HNRNPA1 with these targets in vivo. Similar to CELF1, HNRNPA1 protein levels decrease during postnatal development, but are elevated in both regenerating mouse muscle and DM1 skeletal muscle. Our studies suggest that CUGexp RNA triggers abnormal expression of multiple nuclear RNA binding proteins, including CELF1 and HNRNPA1, that antagonize MBNL activity to promote fetal splicing patterns.


Assuntos
Processamento Alternativo , Ribonucleoproteína Nuclear Heterogênea A1/genética , Ribonucleoproteína Nuclear Heterogênea A1/metabolismo , Distrofia Miotônica/genética , Animais , Proteínas CELF1/genética , Proteínas de Ligação a DNA/metabolismo , Modelos Animais de Doenças , Feto , Humanos , Camundongos , Camundongos Transgênicos , Distrofia Miotônica/metabolismo , Distrofia Miotônica/patologia , Proteínas de Ligação a RNA/metabolismo
17.
Chin Med J (Engl) ; 131(13): 1569-1574, 2018 Jul 05.
Artigo em Inglês | MEDLINE | ID: mdl-29941710

RESUMO

BACKGROUND: Myoclonic epilepsy with ragged red fibers (MERRF) syndrome is characterized by myoclonus, generalized epilepsy, cerebellar ataxia, and ragged red fibers (RRFs) in the muscle. T-to-C transition at nucleotide position 14709 in the mitochondrial tRNA glutamic acid (tRNAGlu) gene has previously been associated with maternally inherited diabetes and deafness. However, the association between MERRF and mitochondrial T14709C mutation (m.T14709C) has never been reported before. METHODS: Clinical information of a 17-year-old patient was collected; muscle biopsy and next-generation sequencing (NGS) of whole mitochondrial and neuromuscular disease panel were then conducted. Finally, sanger sequencing was carried out to confirm the mutations. RESULTS: The patient presented a typical MERRF phenotype with muscle weakness, epileptic seizure, clonic episodes, cerebellar ataxia, and spinal scoliosis. Muscle biopsy showed RRFs which indicated abnormal mitochondrial functions. NGS of whole mitochondrial gene revealed m.T14709C mutation, confirmed by Sanger sequencing. CONCLUSION: We present a sporadic patient with typical MERRF presentation carrying the mutation of m.T14709C, which expanded the spectrum of m.T14709C.


Assuntos
DNA Mitocondrial/genética , Síndrome MERRF/genética , Mutação , Adolescente , Surdez , Humanos , Masculino
18.
Chin Med J (Engl) ; 131(4): 448-453, 2018 Feb 20.
Artigo em Inglês | MEDLINE | ID: mdl-29451150

RESUMO

BACKGROUND: Pompe disease is a rare lysosomal glycogen storage disorder linked to the acid alpha-glucosidase gene (GAA). A wide clinical and genetic variability exists between patients from different ethnic populations, and the genotype-phenotype correlations are still not well understood. The aim of this study was to report the clinicopathological and genetic characteristics of five Chinese patients with late-onset Pompe disease (LOPD) who carried novel GAA gene mutations. METHODS: Clinical and pathological data of patients diagnosed with glycogen storage disease at our institution from April 1986 to August 2017 were collected, and next-generation sequencing of frozen muscle specimens was conducted. RESULTS: Of the five patients included in the study, the median disease onset age was 13 years, with a median 5 years delay in diagnosis. The patients mainly manifested as progressive weakness in the proximal and axial muscles, while one patient developed respiratory insufficiency that required artificial ventilation. In muscle biopsies, vacuoles with variable sizes and shapes appeared inside muscle fibers, and they stained positive for both periodic acid-Schiff and acid phosphatase staining. Ten GAA gene mutations, including seven novel ones (c.796C>A, c.1057C>T, c.1201C>A, c.1780C>T, c.1799G>C, c.2051C>A, c.2235dupG), were identified by genetic tests. CONCLUSIONS: The seven novel GAA gene mutations revealed in this study broaden the genetic spectrum of LOPD and highlight the genetic heterogeneity in Chinese LOPD patients.


Assuntos
Doença de Depósito de Glicogênio Tipo II/genética , Mutação , alfa-Glucosidases/genética , Adolescente , Adulto , Feminino , Doença de Depósito de Glicogênio Tipo II/patologia , Humanos , Masculino , Adulto Jovem
19.
Chin Med J (Engl) ; 130(19): 2279-2282, 2017 Oct 05.
Artigo em Inglês | MEDLINE | ID: mdl-28937031

RESUMO

BACKGROUND: Congenital myasthenic syndromes (CMSs) are a group of clinically and genetically heterogeneous disorders caused by impaired neuromuscular transmission. The defect of AGRN was one of the causes of CMS through influencing the development and maintenance of neuromuscular transmission. However, CMS reports about this gene mutation were rare. Here, we report a novel homozygous missense mutation (c.5302G>C) of AGRN in a Chinese CMS pedigree. METHODS: We performed a detailed clinical assessment of a Chinese family with three affected members. We screened for pathogenic mutations using a disease-related gene panel containing 519 genes associated with genetic myopathy (including 17 CMS genes). RESULTS: In the family, the proband showed limb-girdle pattern of weakness with sparing of ocular, facial, bulbar, and respiratory muscles. Repetitive nerve stimulation showed a clear decrement of the compound muscle action potentials at 3 Hz only. Pathological analysis of the left tibialis anterior muscle showed predominance of type I fiber and the presence of scattered small angular fibers. The proband's two elder sisters shared a similar but more severe phenotype. By gene analysis, the same novel homozygous mutation (c.5302G>C, p. A1768P) of AGRN was identified in all three affected members, whereas the same heterozygous mutation was found in both parents, revealing an autosomal recessive transmission pattern. All patients showed beneficial responses to adrenergic agonists. CONCLUSIONS: This study reports a Chinese pedigree in which all three children carried the same novel AGRN mutation have CMS only affecting limb-girdle muscle. These findings might expand the spectrum of mutation in AGRN and enrich the phenotype of CMS.


Assuntos
Síndromes Miastênicas Congênitas/genética , Feminino , Humanos , Masculino , Mutação/genética , Síndromes Miastênicas Congênitas/metabolismo , Linhagem , Receptores Colinérgicos/genética , Receptores Colinérgicos/metabolismo , Sinapses/genética , Sinapses/metabolismo
20.
Int J Neurosci ; 127(6): 524-530, 2017 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-27426719

RESUMO

OBJECTIVE: We were interested in further confirming whether D-dimers (DD) are indeed elevated in cerebral venous sinus thrombosis (CVST) as reported in those studies. METHODS: CVST patients who had a plasma D-dimer test (139 cases) were included and divided into two groups: elevated D-dimer group (EDG) (>0.5 µg/mL; 65 cases) and normal D-dimer group (NDG) (≤0.5 µg/mL; 74 cases). The two groups were compared in terms of demographic data, clinical manifestation, laboratory and imaging data, using inferential statistical methods. RESULTS: The chi-squared and Fisher exact test showed that, compared to the NDG (74 cases), patients with elevated D-dimer levels were more likely to have a shorter symptom duration (SD) (30 ± 83.9 versus 90 ± 58.9 d, p = 0.003), more risk factors (75.4% versus 52.7%, p = 0.006), higher multiple venous sinus involvement (75.4% versus 59.5%, p = 0.037), increased fibrinogen (43.1% versus 18.9%, p = 0.037) and higher levels of blood glucose (18.3% versus 11%, p = 0.037). According to correlation analyses, D-dimer levels were positively correlated with number of venous sinuses involvement (NVS) (r = 0.321, p = 0.009) in the EDG. Multivariate logistic regression analysis showed that SD (OR, 0.025; 95% CI, 1.324-6.043; p = 0.000), NVS (OR, 1.573; 95% CI, 1.15-2.151; p = 0.005) and risk factors (OR, 3.321; 95% CI, 1.451-7.564; p = 0.004) were significantly different between the two groups. CONCLUSION: D-dimer is elevated in patients with acute/subacute CVST.


Assuntos
Produtos de Degradação da Fibrina e do Fibrinogênio/metabolismo , Trombose Venosa/sangue , Adolescente , Adulto , Fatores Etários , Idoso , Colesterol/sangue , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Fatores de Risco , Índice de Gravidade de Doença , Estatística como Assunto , Adulto Jovem
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