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1.
Huan Jing Ke Xue ; 45(3): 1448-1456, 2024 Mar 08.
Artigo em Chinês | MEDLINE | ID: mdl-38471860

RESUMO

Microplastics, as an emerging pollutant, have garnered global attention. Urban areas are key hotspots for the generation of microplastic pollution, whereas urban water bodies act as vital conduits for the dissemination of microplastics to other freshwater environments. In this study, the Dongshan Canal in the urban area of Yichang City was selected as the research subject. Through field sampling, microscopic observation, and Fourier infrared spectroscopy analysis conducted in July and October 2022, the occurrence characteristics and potential pollution sources of microplastics in the water body of the Dongshan Canal were identified and analyzed. The ecological risk and annual emission volume of microplastics in the water body were quantitatively assessed using the risk index (H), pollution load index (PLI) model, and proportional flow method. The results indicated that the average abundances of microplastics in the surface water of the Dongshan Canal were (7 295±1 051) n·m-3 (July) and (5 145±762.6) n·m-3 (October). Fibrous microplastics (27.63%-63.23%), microplastics with a size of <0.5 mm (75.68%-96.2%), and colored microplastics (22.73%-61.83%) dominated the samples, with PE (30.1%) and PET (26.33%) being the predominant materials. The assessment results from the two models classified the ecological risk index of the Dongshan Canal as class Ⅲ, whereas the overall pollution load fell into class I, with certain sampling points reaching class Ⅱ. Estimates revealed that the Dongshan Canal transports approximately 3.37 t of microplastics to the Yangtze River annually. Overall, the microplastic pollution level in the Dongshan Canal of Yichang City could be considered moderate, with potential sources of pollution including laundry wastewater, personal care products, and plastic waste.

2.
Int Breastfeed J ; 19(1): 15, 2024 Feb 27.
Artigo em Inglês | MEDLINE | ID: mdl-38413997

RESUMO

BACKGROUND: Early and exclusive breastfeeding may reduce neonatal and post-neonatal mortality in low-resource settings. However, prelacteal feeding (PLF), the practice of giving food or liquid before breastfeeding is established, is still a barrier to optimal breastfeeding practices in many South Asian countries. We used a prospective cohort study to assess the association between feeding non-breastmilk food or liquid in the first three days of life and infant size at 3-5 months of age. METHODS: The analysis used data from 3,332 mother-infant pairs enrolled in a randomized controlled trial in northwestern rural Bangladesh conducted from 2018 to 2019. Trained interviewers visited women in their households during pregnancy to collect sociodemographic data. Project staff were notified of a birth by telephone and interviewers visited the home within approximately three days and three months post-partum. At each visit, interviewers collected data on breastfeeding practices and anthropometric measures. Infant length and weight measurements were used to produce length-for-age (LAZ), weight-for-age (WAZ), and weight-for-length (WLZ) Z-scores. We used multiple linear regression to assess the association between anthropometric indices and PLF practices, controlling for household wealth, maternal age, weight, education, occupation, and infant age, sex, and neonatal sizes. RESULTS: The prevalence of PLF was 23%. Compared to infants who did not receive PLF, infants who received PLF may have a higher LAZ (Mean difference (MD) = 0.02 [95% CI: -0.04, 0.08]) score, a lower WLZ (MD=-0.06 [95% CI: -0.15, 0.03]) score, and a lower WAZ (MD=-0.02 [95% CI: -0.08, 0.05]) score at 3-5 months of age, but none of the differences were statistically significant. In the adjusted model, female sex, larger size during the neonatal period, higher maternal education, and wealthier households were associated with larger infant size. CONCLUSION: PLF was a common practice in this setting. Although no association between PLF and infant growth was identified, we cannot ignore the potential harm posed by PLF. Future studies could assess infant size at an earlier time point, such as 1-month postpartum, or use longitudinal data to assess more subtle differences in growth trajectories with PLF. TRIAL REGISTRATION: ClinicalTrials.gov: NCT03683667 and NCT02909179.


Assuntos
Aleitamento Materno , Comportamento Alimentar , Lactente , Recém-Nascido , Gravidez , Humanos , Feminino , Bangladesh/epidemiologia , Estudos Prospectivos , Fatores Socioeconômicos
3.
Int J Gen Med ; 16: 2943-2960, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37457750

RESUMO

Purpose: Cervical cancer (CC) has the fourth highest incidence and mortality rate among female cancers. Lactate is a key regulator promoting tumor progression. Long non-coding RNAs (lncRNAs) are closely associated with cervical cancer (CC). The study was aimed to develop a prognostic risk model for cervical cancer based on lactate metabolism-associated lncRNAs and to determine their clinical prognostic value. Patients and Methods: In this study, CESC transcriptome data were obtained from the TCGA database. 262 lactate metabolism-associated genes were extracted from MsigDB (Molecular Characterization Database). Then, correlation analysis was used to identify LRLs. Univariate Cox regression analysis was performed afterwards, followed by least absolute shrinkage and selection operator (LASSO) regression analysis and multiple Cox regression analysis. 10 lncRNAs were finally identified to construct a risk score model. They were divided into two groups of high risk and low risk according to the median of risk scores. The predictive performance of the models was assessed by Kaplan-Meier (K-M) analysis, subject work characteristics (ROC) analysis, and univariate and multivariate Cox analyses. To assess the clinical utility of the prognostic model, we performed functional enrichment analysis, immune microenvironment analysis, mutation analysis, and column line graph generation. Results: We constructed a prognostic model consisting of 10 LRLs at CC. We observed that high-risk populations were strongly associated with poor survival outcomes. Risk score was an independent risk factor for CC prognosis and was strongly associated with immune microenvironment analysis and tumor mutational load. Conclusion: We developed a risk model of lncRNAs associated with lactate metabolism and used it to predict prognosis of CC, which could guide and facilitate the progress of new treatment strategies and disease monitoring in CC patients.

4.
PLoS One ; 18(4): e0283853, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37083833

RESUMO

With the development of economic globalization, urban agglomerations have become growth poles and core areas of economic development. By building knowledge innovation networks in urban agglomerations, we can effectively improve the strength of inter-city knowledge innovation links and better realize the integrated and synergistic development of the region. This study selected core cities in the Yangtze River Delta urban agglomeration as the study area, constructed the knowledge innovation network based on inter-city dissertation cooperation data from 2010 to 2020, and analyzed the characteristics and evolution of its knowledge network by combining social network analysis and geospatial analysis. The research results show that: (1) with changes in policies and investment in scientific research and innovation, intra-regional thesis cooperation in the Yangtze River Delta urban agglomeration has been increasing and the scale of the knowledge innovation cooperation network is growing; (2) in addition to the core cities radiating innovation resources outward to drive the development of other node cities, other cities are continuously improving their own innovation capabilities, taking the initiative to strengthen knowledge innovation cooperation with core cities and enhancing their own position in the network; (3) there are no longer isolated cities within the Yangtze River Delta urban agglomeration, and a multi-core knowledge network structure centered on Shanghai, Nanjing, Hangzhou, and Suzhou has initially formed, but the network is still spatially heterogeneous; (4) there are still problems within the Yangtze River Delta urban agglomeration such as uneven development of knowledge innovation and low participation of peripheral cities, which need to be addressed jointly by all regions. The article concludes with some suggestions for countermeasures to provide a reference for the Yangtze River Delta urban agglomeration to continuously strengthen intra-regional knowledge cooperation in the future, enhance regional competitiveness, and ultimately achieve synergistic development among cities.


Assuntos
Rios , Urbanização , China , Cidades , Desenvolvimento Econômico
5.
Pediatr Pulmonol ; 58(2): 449-456, 2023 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-36251577

RESUMO

BACKGROUND: Congenital lung malformations (CLMs) are being detected more frequently during pregnancy. There is controversy regarding the optimal treatment for an asymptomatic child with prenatally diagnosed CLMs. Due to the paucity of information from clinical trials, we developed decision analytic models to compare two treatment strategies for such patients-elective surgical resection versus expectant management. METHODS: We built decision analytic models stratified by lesion size. We used data from English language literature identified through PubMed searches along with estimates from expert opinions of surgical colleagues. We analyzed results for two hypothetical asymptomatic 6-month-old children with CLMs; one has a large lesion occupying more than 50% of the involved lobe, while the other has a small lesion occupying less than 50% of the involved lobe. We used quality-adjusted life years (QALYs) to measure effectiveness. RESULTS: For an asymptomatic child with a small or large lesion, expectant management resulted in a small gain of 0.09 or 0.15 QALYs, respectively. Sensitivity analyses showed that surgical resection would be preferred if the probability of remaining asymptomatic was low. CONCLUSIONS: In contrast to current practice, expectant management may be a better alternative for asymptomatic children born with CLMs. More longitudinal studies are required to improve the accuracy of the model.


Assuntos
Pneumopatias , Anormalidades do Sistema Respiratório , Gravidez , Criança , Feminino , Humanos , Lactente , Anormalidades do Sistema Respiratório/cirurgia , Pneumopatias/congênito , Diagnóstico Pré-Natal , Pulmão/diagnóstico por imagem , Pulmão/cirurgia , Pulmão/anormalidades , Técnicas de Apoio para a Decisão
6.
BMC Public Health ; 22(1): 2167, 2022 11 24.
Artigo em Inglês | MEDLINE | ID: mdl-36434563

RESUMO

BACKGROUND: This study aims to explore appropriate model for predicting the disease burden of pneumoconiosis in Tianjin by comparing the prediction effects of Autoregressive Integrated Moving Average (ARIMA) model, Deep Neural Networks (DNN) model and multivariate Long Short-Term Memory Neural Network (LSTM) models. METHODS: Disability adjusted life year (DALY) was used to evaluate the disease burden of occupational pneumoconiosis. ARIMA model, DNN model and multivariate LSTM model were used to establish prediction model. Three performance evaluation metrics including Root Mean Squared Error (RMSE), Mean Absolute Error (MAE) and Mean Absolute Percentage Error (MAPE) were used to compare the prediction effects of the three models. RESULTS: From 1990 to 2021, there were 10,694 cases of pneumoconiosis patients in Tianjin, resulting in a total of 112,725.52 person-years of DALY. During this period, the annual DALY showed a fluctuating trend, but it had a strong correlation with the number of pneumoconiosis patients, the average age of onset, the average age of receiving dust and the gross industrial product, and had a significant nonlinear relationship with them. The comparison of prediction results showed that the performance of multivariate LSTM model and DNN model is much better than that of traditional ARIMA model. Compared with the DNN model, the multivariate LSTM model performed better in the training set, showing lower RMES (42.30 vs. 380.96), MAE (29.53 vs. 231.20) and MAPE (1.63% vs. 2.93%), but performed less stable than the DNN on the test set, showing slightly higher RMSE (1309.14 vs. 656.44), MAE (886.98 vs. 594.47) and MAPE (36.86% vs. 22.43%). CONCLUSION: The machine learning techniques of DNN and LSTM are an innovative method to accurately and efficiently predict the burden of pneumoconiosis with the simplest data. It has great application prospects in the monitoring and early warning system of occupational disease burden.


Assuntos
Redes Neurais de Computação , Pneumoconiose , Humanos , Previsões , Incidência , China/epidemiologia , Efeitos Psicossociais da Doença , Modelos Estatísticos , Pneumoconiose/epidemiologia
7.
J Gastroenterol Hepatol ; 37(7): 1389-1399, 2022 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-35430757

RESUMO

BACKGROUND AND AIM: Gallbladder and biliary diseases (GBDs) are one of the most prevalent medical issues in the digestive system. This study was designed to describe the characteristics of prevalence, death, and disability-adjusted life years (DALYs) of GBDs during 1990-2019 using data from the Global Burden of Diseases, Injuries, and Risk Factors Study 2019. METHODS: Prevalence, death, and DALYs for GBDs in different locations, years, sex, and age groups were estimated using DisMod-MR 2.1 and a generic Cause of Death Ensemble Modeling approach. Countries and territories were categorized according to socio-demographic index (SDI) quintiles. RESULTS: The prevalence cases (127 345 732 to 193 493 378), death cases (82 430 to 124 941), and DALYs (4 604 821 to 6 352 738) of GBDs increased from 1990 to 2019. However, the age-standardized rates of indicators decreased over the 30-year period (prevalence, 2851.84 to 2350.78 per 100 000 population; death, 2.40 to 1.65 per 100 000 population; DALYs, 106.76 to 78.25 per 100 000 population). In 2019, the high and middle-high SDI regions had higher age-standardized prevalence rates, the low SDI region had the highest age-standardized death rate, and the middle SDI region had the highest DALYs and age-standardized DALYs rate of GBDs. Being female, older age, and high body mass index were important risk factors for the burden of GBDs. CONCLUSIONS: Globally, there were improvements in overall health with regard to GBDs over the 30 years. However, the prevention of GBDs should be promoted in middle, middle-high, and high SDI regions, while more medical resources should be provided to improve treatment levels in low SDI region.


Assuntos
Doenças da Vesícula Biliar , Carga Global da Doença , Feminino , Doenças da Vesícula Biliar/epidemiologia , Saúde Global , Humanos , Incidência , Masculino , Anos de Vida Ajustados por Qualidade de Vida , Fatores de Risco
8.
Int J Epidemiol ; 51(5): 1666-1676, 2022 10 13.
Artigo em Inglês | MEDLINE | ID: mdl-35234893

RESUMO

BACKGROUND: Peptic ulcer disease is one of the most common diseases in gastroenterology clinics. However, reported data about the global burden of peptic ulcer disease are still scarce. METHODS: This was a secondary data analysis on the prevalence, mortality and disability-adjusted life years (DALYs) due to peptic ulcer disease by sex, age group and socio-demographic index (SDI) at the global level in 21 regions and 204 countries and territories between 1990 and 2019 using the Global Burden of Diseases, Injuries, and Risk Factors Study 2019. RESULTS: Globally, the prevalence cases of peptic ulcer disease increased from 6 434 103 (95% uncertainty interval 5 405 963 to 7 627 971) in 1990 to 8 090 476 (6 794 576 to 9 584 000) in 2019. However, the age-standardized prevalence rate decreased from 143.4 (120.5 to 170.2) per 100 000 population in 1990 to 99.4 (83.9 to 117.5) per 100 000 population in 2019. Moreover, the age-standardized mortality rate decreased by 59.4% (55.3 to 63.1) and the DALYs rate fell by 60.6% (56.8 to 63.9) from 1990 to 2019. Across SDI quintiles, low-middle and low SDI quintiles had the highest age-standardized prevalence, mortality and DALYs rates from 1990 to 2019. CONCLUSION: The age-standardized prevalence, mortality and DALYs estimates of peptic ulcer disease decreased from 1990 to 2019 globally, but more efforts are needed for the prevention, early diagnosis and treatment of peptic ulcer disease in low SDI and low-middle SDI groups of countries.


Assuntos
Carga Global da Doença , Úlcera Péptica , Saúde Global , Humanos , Úlcera Péptica/epidemiologia , Prevalência , Anos de Vida Ajustados por Qualidade de Vida , Fatores de Risco
9.
J Evid Based Med ; 14(3): 218-231, 2021 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-34463038

RESUMO

In the past years, network meta-analysis (NMA) has been widely used among clinicians, guideline makers, and health technology assessment agencies and has played an important role in clinical decision-making and guideline development. To inform further development of NMAs, we conducted a bibliometric analysis to assess the current status of published NMA methodological studies, summarized the methodological progress of seven types of NMAs, and discussed the current challenges of NMAs.


Assuntos
Publicações , Metanálise em Rede
10.
BMC Pharmacol Toxicol ; 22(1): 38, 2021 06 26.
Artigo em Inglês | MEDLINE | ID: mdl-34172094

RESUMO

BACKGROUND: Subtilisin QK is a serine protease in the subtilisin family, and is fermented by Bacillus subtilis QK02. The fibrinolytic activity of subtilisin QK was measured by detecting low molecular weight degradation products using a spectrophotometric method developed by Japan Bio Science Laboratory Co., Ltd. Subtilisin QK powder can maintain its fibrinolytic activity for more than 24 months when it is stored at room temperature and protected from light. Our previous results showed that subtlisin QK directly degraded cross-linked fibrins in the fibrin plate assay and effectively inhibited thrombosis in the mouse thrombus model. The aim of this study was to determine the acute toxicity, potential subchronic toxicity, and safety pharmacology of subtilisin QK in Sprague-Dawley (SD) rats. METHODS: In the acute toxicity study, a single oral dose of 100,000 FU/kg was administered to 10 female and 10 male SD rats. In the 28-day subchronic toxicity, 60 female and 60 male SD rats were randomly assigned to four experimental groups (daily oral dose of 0, 2500, 7500 and 25,000 FU/kg). In the safety pharmacology study, 20 female and 20 male SD rats were randomly assigned to four experimental groups (single oral dose of 0, 500, 1500 and 5000 FU/kg). RESULTS: No death occurred and no adverse effects were observed in the acute toxicity study at a dose of 100,000 FU/kg. In the 28-day subchronic toxicity study, several hematological and blood biochemical parameters showed increases or decreases; however, due to the lack of a dose-response relationship, these differences were considered unrelated to treatment. In the safety pharmacology study, no adverse effects were observed on the central nervous of SD rats post-administration up to a dose of 5000 FU/kg subtilisin QK. CONCLUSION: The results showed that oral consumption of subtilisin QK is of low toxicological concern. No adverse effects were observed at doses of 2500, 7500, and 25,000 FU/kg in the 28-day subchronic toxicity, and the no-observed-adverse-effect level (NOAEL) of subtilisin QK was 25,000 FU/kg.


Assuntos
Fibrinolíticos/toxicidade , Subtilisinas/toxicidade , Administração Oral , Animais , Feminino , Fibrinolíticos/farmacologia , Masculino , Ratos Sprague-Dawley , Subtilisinas/farmacologia , Testes de Toxicidade Aguda , Testes de Toxicidade Subcrônica
11.
Sci Rep ; 11(1): 7776, 2021 04 08.
Artigo em Inglês | MEDLINE | ID: mdl-33833338

RESUMO

This study investigated associations between cardiometabolic diseases, frailty, and healthcare utilization and expenditure among Chinese older adults. The participants were 5204 community-dwelling adults aged at least 60 years from the China Health and Retirement Longitudinal Study. Five cardiometabolic diseases were assessed including hypertension, dyslipidemia, diabetes, cardiac diseases and stroke. Frailty status was based on five criteria: slowness, weakness, exhaustion, inactivity, and shrinking. Participants were deemed frailty if they met at least three criteria. As the number of cardiometabolic diseases increased, so did the prevalence of frailty, and the proportion of healthcare utilization, including outpatient visit and inpatient visit. Moreover, the total healthcare expenditure and the odds of catastrophic health expenditure were increased with the number of cardiometabolic disorders. After adjusting for covariates, cardiometabolic diseases were positively associated with higher odds of frailty, incurring outpatient and inpatient visit. And individuals with 2 or more cardiometabolic diseases had a higher odds of catastrophic health expenditure than persons with non-cardiometabolic disease. Participants who were frailty were more likely to report higher odds of healthcare utilization. These findings suggest that both cardiometabolic diseases and frailty assessment may improve identification of older adults likely to require costly, extensive healthcare.


Assuntos
Fragilidade/epidemiologia , Avaliação Geriátrica , Gastos em Saúde/estatística & dados numéricos , Cardiopatias/epidemiologia , Aceitação pelo Paciente de Cuidados de Saúde/estatística & dados numéricos , Idoso , China/epidemiologia , Feminino , Idoso Fragilizado , Humanos , Hipertensão/epidemiologia , Vida Independente , Estudos Longitudinais , Masculino , Pessoa de Meia-Idade , Prevalência , Inquéritos e Questionários
12.
Eur Radiol ; 29(5): 2233-2242, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-30523453

RESUMO

OBJECTIVES: To identify CT markers for screening of early type 2 diabetes and assessment of the risk of incident diabetes using a radiomics method. METHODS: The medical records of 26,947 inpatients were reviewed. A total of 690 patients were selected and allocated to a primary cohort, a validation cohort, and a prediction cohort and used to build prediction models for diabetes. Three radiomics signatures were constructed using CT image features extracted from three regions of interest, i.e., in the pancreas, liver, and psoas major muscle. By incorporating radiomics signatures and other markers, we built a radiomics nomogram that could be used to screen for early diabetes and predict future diabetes. RESULTS: Of the three abdominal organs for which radiomics signature were constructed, that of the pancreas showed the best discriminatory power for early diabetes screening and prediction (C-statistics of 0.833, 0.846, and 0.899 for the primary cohort, validation cohort, and prediction cohort, respectively). The sensitivity and specificity of the nomogram for prediction of 3-year incident diabetes were 0.827 and 0.807, respectively. CONCLUSIONS: This study presents alternative radiomics markers that have potential for use in screening for undiagnosed type 2 diabetes and prediction of 3-year incident diabetes. KEY POINTS: • CT images may provide useful information to evaluate the risk of developing diabetes. • Radiomics score for diabetes prediction is based on subtle changes of abdominal organs detected by CT. • The radiomics signature of pancreas, a combination of five features of CT images, is efficient for early diabetes screening and prediction of future diabetes (AUC > 0.8).


Assuntos
Diabetes Mellitus Tipo 2/diagnóstico , Tomografia Computadorizada Multidetectores/métodos , Nomogramas , Radiografia Abdominal/métodos , Medição de Risco/métodos , Tecido Adiposo/diagnóstico por imagem , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Reprodutibilidade dos Testes
13.
Biomed Environ Sci ; 30(12): 927-931, 2017 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-29335064

RESUMO

Little information is available about the effects of exposure to pulsed microwaves on neuronal Ca2+ signaling under non-thermal conditions. In this study, rat pheochromocytoma (PC12) cells were exposed to pulsed microwaves for 6 min at a specific absorption rate (SAR) of 4 W/kg to assess possible real-time effects. During microwave exposure, free calcium dynamics in the cytosol, mitochondria, and nucleus of cells were monitored by time-lapse microfluorimetry using a genetically encoded calcium indicator (ratiometric-pericam, ratiometric-pericam-mt, and ratiometric-pericam-nu). We established a waveguide-based real-time microwave exposure system under accurately controlled environmental and dosimetric conditions and found no significant changes in the cytosolic, mitochondrial, or nuclear calcium levels in PC12 cells. These findings suggest that no dynamic changes occurred in [Ca2+]c, [Ca2+]m, or [Ca2+]n of PC12 cells at the non-thermal level.


Assuntos
Cálcio/metabolismo , Núcleo Celular/efeitos da radiação , Citosol/efeitos da radiação , Micro-Ondas , Mitocôndrias/efeitos da radiação , Animais , Núcleo Celular/metabolismo , Citosol/metabolismo , Microscopia Confocal , Mitocôndrias/metabolismo , Células PC12 , Ratos
14.
Atten Percept Psychophys ; 79(2): 459-472, 2017 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-27943121

RESUMO

A visual search for targets is facilitated when the target objects are on a different depth plane than other masking objects cluttering the scene. The ability of observers to determine whether one of four letters presented stereoscopically at four symmetrically located positions on the fixation plane differed from the other three was assessed when the target letters were masked by other randomly positioned and oriented letters appearing on the same depth plane as the target letters, or in front, or behind it. Three additional control maskers, derived from the letter maskers, were also presented on the same three depth planes: (1) random-phase maskers (same spectral amplitude composition as the letter masker but with the phase spectrum randomized); (2) random-pixel maskers (the locations of the letter maskers' pixel amplitudes were randomized); (3) letter-fragment maskers (the same letters as in the letter masker but broken up into fragments). Performance improved with target duration when the target-letter plane was in front of the letter-masker plane, but not when the target letters were on the same plane as the masker, or behind it. A comparison of the results for the four different kinds of maskers indicated that maskers consisting of recognizable objects (letters or letter fragments) interfere more with search and comparison judgments than do visual noise maskers having the same spatial frequency profile and contrast. In addition, performance was poorer for letter maskers than for letter-masker fragments, suggesting that the letter maskers interfered more with performance than the letter-fragment maskers because of the lexical activity they elicit.


Assuntos
Mascaramento Perceptivo , Desempenho Psicomotor/fisiologia , Disparidade Visual/fisiologia , Percepção Visual/fisiologia , Adolescente , Adulto , Atenção/fisiologia , Feminino , Humanos , Masculino , Estimulação Luminosa , Adulto Jovem
15.
Sci China Life Sci ; 58(9): 829-38, 2015 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-26432548

RESUMO

A couple with a proband child of GJB2 (encoding the gap junction protein connexin 26)-associated hearing impairment and a previous pregnancy miscarriage sought for a reproductive solution to bear a healthy child. Our study aimed to develop a customized preconception-to-neonate care trajectory to fulfill this clinical demand by integrating preimplantation genetic diagnosis (PGD), noninvasive prenatal testing (NIPT), and noninvasive prenatal diagnosis (NIPD) into the strategy. Auditory and genetic diagnosis of the proband child was carried out to identify the disease causative mutations. The couple then received in-vitro-fertilization treatment, and eight embryos were obtained for day 5 biopsy. PGD was performed by short-tandem-repeat linkage analysis and Sanger sequencing of GJB2 gene. Transfer of a GJB2c.235delC heterozygous embryo resulted in a singleton pregnancy. At the 13th week of gestation, genomic DNA (gDNA) from the trio family and cell-free DNA (cfDNA) from maternal plasma were obtained for assessment of fetal chromosomal aneuploidy and GJB2 mutations. NIPT and NIPD showed the absence of chromosomal aneuploidy and GJB2-associated disease in the fetus, which was later confirmed by invasive procedures and postnatal genetic/auditory diagnosis. This strategy successfully prevented the transmission of hearing impairment in the newborn, thus providing a valuable experience in reproductive management of similar cases and potentially other monogenic disorders.


Assuntos
Conexinas/genética , Perda Auditiva/diagnóstico , Diagnóstico Pré-Implantação/métodos , Aneuploidia , Biópsia , Sistema Livre de Células , Conexina 26 , Análise Mutacional de DNA , Saúde da Família , Feminino , Fertilização in vitro , Perda Auditiva/genética , Testes Auditivos , Humanos , Masculino , Mutação , Linhagem , Gravidez , Resultado da Gravidez , Diagnóstico Pré-Natal/métodos
16.
Fa Yi Xue Za Zhi ; 23(1): 26-9, 2007 Feb 15.
Artigo em Chinês | MEDLINE | ID: mdl-17330755

RESUMO

OBJECTIVE: To investigate the basic principles and important rules of forensic identification of adverse drug events and to accumulate basic data and to provide references for forensic identification of similar cases. METHODS: Thirty-three cases of adverse drug events in our forensic identification files were retrospectively reviewed, analyzed, and summarized. RESULTS: There were 27 live and 6 dead victims included in this study. Our study showed a gradually increasing numbers of adverse drug cases in forensic identification year by year with a slight female predominance (20/33 cases, 60.6%). Of the 33 victims, nearly two-thirds (21/33, 63.6%) were due to hospital errors including only one case of drug overdose (1/21, 4.8%), whereas the rest were not related to the hospital errors. Eight cases (8/33, 24.2%) were caused by illegal medical practitioners due to improper use of medication. CONCLUSION: Investigators need to pay more attention to the characteristics and complexities of adverse drug events on a case by case basis encountered in increasing numbers of more and more such forensic identification.


Assuntos
Efeitos Colaterais e Reações Adversas Relacionados a Medicamentos , Medicina Legal , Imperícia/legislação & jurisprudência , Erros Médicos/legislação & jurisprudência , Adulto , Prova Pericial , Feminino , Administração de Serviços de Saúde/legislação & jurisprudência , Humanos , Masculino , Imperícia/estatística & dados numéricos , Erros Médicos/prevenção & controle , Pessoa de Meia-Idade , Estudos Retrospectivos , Fatores de Risco , Distribuição por Sexo , Adulto Jovem
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