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1.
Artigo em Chinês | MEDLINE | ID: mdl-38403417

RESUMO

Objective: To explore the correlation between urinary arsenic and health effects through the determination and analysis of urinary arsenic levels in occupational arsenic exposed workers. Methods: In November 2021, 95 workers exposed to arsenic and its inorganic compounds and 31 administrative personnel from a non-ferrous metal smelter in Yunnan Province were selected as the contact group and control group, respectively. Urine forms of arsenic, blood tumor markers, liver function were detected, and micronucleus test was used to analyze the chromosome damage. The correlation between urine forms of arsenic and health effects were analyzed. Results: Compared with the control group, the concentrations of urinary trivalent inorganic arsenic (iAs(3+)) , pentavalent inorganic arsenic (iAs(5+)) , inorganic arsenic (iAs=ΣiAs(3+)+iAs(5+)) , monomethyl arsenic (MMA) , dimethyl arsenic (DMA) and urinary arsenic (ΣiAs+MMA+DMA) at the end of class in contact group were higher (P<0.05) . There was no statistically significant difference in blood tumor markers and liver function indicators between the two groups (P>0.05) . Compared with the control group, the peripheral blood micronucleus rate and cell micronucleus rate in the contact group were significantly increased (P<0.05) . The urinary arsenic, iAs(5+), inorganic arsenic and DMA were positively correlated with peripheral blood micronucleus rate in contact group (r(s)=0.48, 0.34, 0.37, 0.23, P<0.05) , and the urinary arsenic, iAs(5+), DMA were positively correlated with peripheral blood micronucleus rate (r(s)=0.48, 0.34, 0.26, P<0.05) . Conclusion: There is a significant correlation between different valence states of arsenic in the urine and abnormal health effects of occupational arsenic exposed workers. It is necessary to strengthen the detection of arsenic species in the urine of occupational arsenic exposed workers to better protect their health.


Assuntos
Arsênio , Arsenicais , Exposição Ocupacional , Humanos , Arsênio/urina , China , Arsenicais/efeitos adversos , Exposição Ocupacional/efeitos adversos , Exposição Ocupacional/análise , Biomarcadores Tumorais
2.
Zhonghua Er Ke Za Zhi ; 61(6): 503-508, 2023 Jun 02.
Artigo em Chinês | MEDLINE | ID: mdl-37312460

RESUMO

Objective: To analyze the clinical characteristics of patients with Mucopolysaccharidosis ⅣA (MPS ⅣA). Methods: A retrospective study was conducted on 111 patients with MPS ⅣA in Xinhua Hospital of Shanghai Jiao Tong University School of Medcine from December 2008 to August 2020, confirmed by enzyme activity and genetic testing. General situation, clinical manifestations and enzyme activity test results were analyzed. According to the clinical manifestations, it can be divided into severe, intermediate and mild group. The independent sample t test was used to compare the birth body length and weight of children with that of normal boys and girls, and group comparisons of enzyme activities were evaluated by median test. Results: One hundred and eleven unrelated patients, 69 males and 42 females, were classified into 3 subtypes: severe (n=85), intermediate (n=14), and mild (n=12). The age at symptom onset were 1.6 (1.0, 3.0) years, and at diagnosis were 4.3 (2.8, 7.8) years. Skeletal manifestations were observed in all patients and consisted mainly of pectus carinatum (96/111, 86.5%), motor dysfunction (78/111, 70.3%), spinal deformity (71/111, 64.0%), growth retardation (64/111, 57.7%), joint laxity (63/111, 56.8%) and genu valgum (62/111, 55.9%). Eighty-eight patients (88/111, 79.3%) with MPS ⅣA were also along with non-skeletal manifestations, mainly including snoring (38/111, 34.2%), coarse faces (34/111, 30.6%), and visual impairment (26/111, 23.4%). The most common skeletal manifestation was pectus carinatum (79 cases), and non-skeletal manifestation was snoring (30 cases) and coarse faces (30 cases) in severe patients, pectus carinatum (13 cases) and snoring (5 cases) in intermediate type, motor dysfunction (11 cases) and snoring (3 cases) and visual impairment (3 cases) in mild patients. The height and weight of severe patients began to fall below -2 s at 2-<5 years and 5-<7 years, respectively. At the age of 10-<15 years, the standard deviation score of the height of severe patients reached (-6.2±1.6) s in males and (-6.4±1.2) s in females, and the score of weight got (-3.0±1.1) s in males and (-3.5±0.5) s in females. The height of intermediate patients began to fall below -2 s at the age of 7-<10 years, and the standard deviation score of height were -4.6 s and -3.6 s in 2 males, and -4.6 s and -3.8 s in 2 females at the age of 10-<15 years. The weight remained within -2 s in 72.0% (18/25) of intermediate patients compared to age-matched healthy children. In the mild patients with MPS ⅣA, the mean standard deviation score of height and weight was within -2 s. The enzyme activities of mild patients (2.02 (1.05, 8.20) nmol/(17 h·mg)) were both significantly higher than that of intermediate (0.57 (0.47, 0.94) nmol/(17 h·mg)) and severe (0.22 (0, 0.59) nmol/(17 h·mg)) patients (Z=9.91, 13.98, P=0.005, 0.001), and the enzyme activity of intermediate patients was significantly higher than that of severe patients (Z=8.56, P=0.010). Conclusions: The clinical manifestations of MPS ⅣA are charactered by pectus carinatum, motor function impairment, spinal deformity and growth retardation. The clinical characteristics, growth rate and enzyme activity differ among the 3 subtypes of MPS ⅣA.


Assuntos
Mucopolissacaridoses , Mucopolissacaridose IV , Pectus Carinatum , Masculino , Criança , Feminino , Humanos , Adolescente , Estudos Retrospectivos , Ronco , China , Transtornos do Crescimento , Transtornos da Visão
3.
AJNR Am J Neuroradiol ; 44(6): 641-648, 2023 06.
Artigo em Inglês | MEDLINE | ID: mdl-37202113

RESUMO

BACKGROUND AND PURPOSE: Identifying the presence and extent of intracranial thrombi is crucial in selecting patients with acute ischemic stroke for treatment. This article aims to develop an automated approach to quantify thrombus on NCCT and CTA in patients with stroke. MATERIALS AND METHODS: A total of 499 patients with large-vessel occlusion from the Safety and Efficacy of Nerinetide in Subjects Undergoing Endovascular Thrombectomy for Stroke (ESCAPE-NA1) trial were included. All patients had thin-section NCCT and CTA images. Thrombi contoured manually were used as reference standard. A deep learning approach was developed to segment thrombi automatically. Of 499 patients, 263 and 66 patients were randomly selected to train and validate the deep learning model, respectively; the remaining 170 patients were independently used for testing. The deep learning model was quantitatively compared with the reference standard using the Dice coefficient and volumetric error. The proposed deep learning model was externally tested on 83 patients with and without large-vessel occlusion from another independent trial. RESULTS: The developed deep learning approach obtained a Dice coefficient of 70.7% (interquartile range, 58.0%-77.8%) in the internal cohort. The predicted thrombi length and volume were correlated with those of expert-contoured thrombi (r = 0.88 and 0.87, respectively; P < .001). When the derived deep learning model was applied to the external data set, the model obtained similar results in patients with large-vessel occlusion regarding the Dice coefficient (66.8%; interquartile range, 58.5%-74.6%), thrombus length (r = 0.73), and volume (r = 0.80). The model also obtained a sensitivity of 94.12% (32/34) and a specificity of 97.96% (48/49) in classifying large-vessel occlusion versus non-large-vessel occlusion. CONCLUSIONS: The proposed deep learning method can reliably detect and measure thrombi on NCCT and CTA in patients with acute ischemic stroke.


Assuntos
Isquemia Encefálica , Aprendizado Profundo , Trombose Intracraniana , AVC Isquêmico , Acidente Vascular Cerebral , Trombose , Humanos , AVC Isquêmico/diagnóstico por imagem , Acidente Vascular Cerebral/diagnóstico por imagem , Trombose Intracraniana/diagnóstico por imagem , Angiografia por Tomografia Computadorizada/métodos , Isquemia Encefálica/diagnóstico por imagem
4.
J Fr Ophtalmol ; 46(3): 239-248, 2023 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-36797093

RESUMO

PURPOSE: To evaluate the efficacy of 0.01% atropine to slow the progression of myopia in children. METHODS: We searched PubMed, Embase, ClinicalTrials.gov, CNKI, Cqvip and Wan fang databases from inception to January 2022, including RCTs (randomized controlled trials) and non-RCTs (non-randomized controlled trials). The search strategy was 'myopia' OR 'refractive error' and 'atropine.' Two researchers independently reviewed the articles, and stata12.0 was used for meta-analysis. The Jadad score was used to assess the quality of RCT, and the Newcastle-Ottawa scale was used for non-RCTs. RESULTS: Five RCTs and two non-RCTs (1 prospective non-randomized controlled study, 1 retrospective cohort study) were identified (including 1000 eyes). Results of the meta-analysis showed statistical heterogeneity among the 7 included studies (P=0. 026, I2 =47.1%). According to different durations of atropine use - 4 months, 6 months and greater than 8 months, subgroup analysis results showed that the axial elongation of all experimental groups relative to control groups were respectively -0.03mm (95% [CI], (confidence interval), -0.07 to 0.01), -0.07mm (95% [CI], -0.10 to -0.05), -0.09mm (95% [CI], -0.12 to -0.06). Each P was greater than 0.05, which indicated that there is little heterogeneity among the subgroups. CONCLUSIONS: In this meta-analysis of the short-term efficacy of atropine in myopia patients, it was found that there was little heterogeneity when grouped by usage time. It is suggested that the use of atropine in the treatment of myopia is not only related to its concentration but also related to the duration of use.


Assuntos
Atropina , Miopia , Criança , Humanos , Atropina/administração & dosagem , Olho , Miopia/tratamento farmacológico , Miopia/epidemiologia , Estudos Prospectivos , Refração Ocular , Estudos Retrospectivos
6.
Zhonghua Wei Chang Wai Ke Za Zhi ; 25(11): 997-1004, 2022 Nov 25.
Artigo em Chinês | MEDLINE | ID: mdl-36396375

RESUMO

Objective: A permanent stoma can seriously affect patients' quality of life. Clinicians need to consider the risk of a permanent stoma when making clinical decisions. This study analyzed preoperative predictors of a permanent stoma after laparoscopic intersphincteric resection for low rectal cancer (LISR), and a prediction model was constructed validated. Methods: This was a retrospective study that analyzed clinical data of 331 ultralow rectal cancer patients who were diagnosed with primary rectal adenocarcinoma by endoscopy and pathology, including 218 males and 113 female, (58.8±11.2) years and (23.7±3.1) kg/m2. The patients underwent LISR with a preventive stoma from January 2012 to December 2020. Patients with multiple primary colorectal cancers, who underwent emergency surgery for intestinal obstruction or bleeding or perforation, and did not complete 18 months follow up were exclucled. R software was used to randomly select 234 patients as the modeling group with a ratio of approximately 7:3, and the remaining 97 patients comprised the validation group. The stoma site was determined by the surgeon before the operation, and the ileum 30 cm from the ileocecal valve was selected. The rates of a permanent stoma for the entire group and the preoperative clinical factors that may affect the permanency of a stoma in the modeling group were determined. A permanent stoma was defined as failure to close the stoma at 18 months after surgery. Multivariate logistic regression analysis was used to analyze the preoperative independent risk factors for a permanent stoma after LISR. R software was used to create the nomogram model, and the predictive ability of the nomogram model was evaluated by receiver operating characteristic (ROC) curve analysis. Results: Among the 331 patients who underwent LISR, 37 (26 cases in the modeling group and 11 cases in the validation group, 11.2%) developed a permanent stoma for the following reasons: anastomotic stenosis due to leakage (16 cases, 43.2%), distant metastasis (16 cases, 43.2%), intolerant to stoma closure surgery (3 cases, 8.1%), stenosis due to postoperative radiation (1 case, 2.7%), and poor recovery of anorectal function (1 case, 2.7%). Univariate analysis showed that preoperative neoadjuvant chemoradiotherapy, poorly differentiated tumor, cT3 stage, and distant metastasis were associated with a permanent stoma. Multivariate logistic regression analysis showed that neoadjuvant chemoradiotherapy [OR=3.078, 95% confidence interval (CI): 1.326-7.147; P=0.009], cT3 stage (OR=2.257, 95%CI: 1.001-5.091; P=0.049), and stage IV cancer (OR=16.180, 95%CI: 2.753-95.102; P=0.002) were independent risk factors for permanent stoma after LISR. Based on the selected risk factors, a nomogram model for predicting permanent stoma was constructed. The area under the ROC curve of the modeling group was 0.793, the optimal cut-off value was 0.890, the sensitivity was 0.577, and the specificity was 0.885. The area under the ROC curve of the validation group was 0.953. The corrected curves of the modeling group and the validation group showed a good degree of fit. Conclusion: Neoadjuvant chemoradiotherapy, cT3 stage, and distant metastasis are independent predictors of a permanent stoma after LISR, and the nomogram model is helpful to predict the probability of a permanent stoma. Patients with high-risk factors should be adequately informed of the risk of a permanent stoma before colorectal surgery.


Assuntos
Laparoscopia , Neoplasias Retais , Feminino , Humanos , Masculino , Constrição Patológica/etiologia , Laparoscopia/efeitos adversos , Nomogramas , Qualidade de Vida , Neoplasias Retais/cirurgia , Neoplasias Retais/patologia , Estudos Retrospectivos , Fatores de Risco
7.
Zhonghua Lao Dong Wei Sheng Zhi Ye Bing Za Zhi ; 40(10): 721-726, 2022 Oct 20.
Artigo em Chinês | MEDLINE | ID: mdl-36348550

RESUMO

Objective: To investigate the cell cycle and apoptosis in hydroquinone (HQ) -induced malignant transformation of TK6 cells and its related regulatory mechanisms. Methods: TK6 cells were exposed to 20 µmol/L HQ, 24 h/time, once a week, for 19 weeks as experimental group and TK6 cells treated with phosphate buffer (PBS) for 19 weeks was used as control group from March 2014. In regulatory mechanism research, the cells were divided into four groups: control group, experimental group, control inhibitor group and experimental inhibitor group (inhibitor groups were added 10 µmol/L P600125) . Cell cycle and apoptosis were detected by flow cytometry. The protein expression of cell cycle-related proteins and JNK signaling pathway proteins were detected by Western blot. Results: Flow cytometry showed that compared with control group, the ratio of cells in the G0/G1 phase of the experimental group was significantly decreased (P=0.001) , and the ratio of cells in the S phase was significantly increased (P=0.002) . Western blotting demonstrated that the protein expressions of p-Rb (Ser780) , E2F1, Cyclin D1, p-p16 (Ser152) , JNK1, p-JNK1 (Thr183/Tyr185) , c-jun, p-c-jun (Ser63) (P=0.015, 0.021, 0.001, 0.001, 0.005, 0.001, 0.039, 0.003) were up-regulated, while the protein expressions of Rb (P=0.048) and p16 (P=0.002) were significantly down-regulated. After exposed to SP600125, compared with experimental group, there were no significant changes in cell cycle distribution (P=0.946) and apoptosis rate (P=0.923) in experimental inhibitor group. The expression of c-jun (P=0.040) protein was down-regulated, while the expression of Rb (P=0.027) protein was up-regulated in experimental inhibitor group. Conclusion: In HQ-induced TK6 cells malignant transformation, the cell cycle is arrested in the S phase, and the p16/pRb signaling pathway is inhibited, while the JNK signaling pathway is activated. However, the activated JNK signaling pathway may not be involved in the regulation of cell cycle.


Assuntos
Hidroquinonas , Sistema de Sinalização das MAP Quinases , Humanos , Hidroquinonas/toxicidade , Ciclo Celular , Transformação Celular Neoplásica , Apoptose
8.
Zhonghua Er Ke Za Zhi ; 60(10): 1066-1071, 2022 Oct 02.
Artigo em Chinês | MEDLINE | ID: mdl-36207855

RESUMO

Objective: To analyze the clinical and genetic characteristics of 33 children with congenital lipoid adrenal hyperplasia (CLAH) caused by StAR gene defects. Methods: The clinical, biochemical, genetic, and follow-up (until December 2021) data of 33 children diagnosed with CLAH from 2006 to 2021 were retrospectively analyzed in Xinhua Hospital, Shanghai Jiao Tong University School of Medicine. Results: Of the 33 children with CLAH, 17 had a karyotype of 46, XX and 16 had a karyotype of 46, XY; 31 were female and 2 were male by social gender. Classic type and non-classic type were found in 30 and 3 children respectively. The age at diagnosis was 9.0 (3.0, 34.5) months. All the 30 cases with classic CLAH presented within the first year of life with skin hyperpigmentation (28 cases, 93%), vomiting and(or) diarrhea (19 cases, 63%), no increase in body weight (8 cases, 27%), elevated adrenocorticotropic hormone levels (21cases (70%)>275 pmol/L), decreased cortisol levels (47 (31,126) nmol/L), hyponatremia ((126±13) mmol/L), hyperkalemia ((5.7±1.1) mmol/L), and normal 17α-hydroxyprogesterone levels (30 cases, 100%). All these with classic CLAH exhibited female external genitalia. Three children with non-classic CLAH (including 2 cases of 46, XY and 1 case of 46, XX) also showed signs and symptoms of adrenal insufficiency, but 2 of them had an age of onset later than 1 year of age, including 1 case of 46, XY with male external genitalia and 1 case of 46, XX with female external genitalia. The other 46, XY patient with non-classic CLAH presented with adrenal insufficiency at 2 months of age, showing micropenis and hypospadias. In the 17 females with 46, XX, 4 older than 10 years of age showed spontaneous pubertal development. A total of 25 StAR gene pathogenic variants were identified in 33 patients, with p.Q258* (18/66, 27%), p.K236Tfs*47 (8/66, 12%) and p.Q77* (6/66, 9%) being the common variantion. Six novel variants were found, including c.358T>G, c.713_714del, c.125del, c.745-1G>A, c.179-2A>C, and exon 1 deletion. Conclusions: Patients with classic CLAH typically present with signs and symptoms of primary adrenal insufficiency in the early infancy period and female external genitalia. p.Q258*, p.K236Tfs*47 and p.Q77* are common variants in CLAH patients.


Assuntos
Hiperplasia Suprarrenal Congênita , Insuficiência Adrenal , Hiperplasia Suprarrenal Congênita/diagnóstico , Hiperplasia Suprarrenal Congênita/genética , Hormônio Adrenocorticotrópico , Pré-Escolar , China , Transtorno 46,XY do Desenvolvimento Sexual , Feminino , Humanos , Hidrocortisona , Hidroxiprogesteronas , Hiperplasia , Lactente , Masculino , Mutação , Fosfoproteínas/genética , Estudos Retrospectivos
9.
Ultrasonics ; 126: 106821, 2022 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-35988512

RESUMO

In vivo ultrasound imaging with phased array transducers is of great importance for both clinical application and biomedical research. In this work, relaxor ferroelectric PMN-0.28PT single crystal with very high piezoelectric constant d33 ≥ 2000 pC/N and electromechanical coupling coefficient k33 âˆ¼ 0.92 is used to fabricate high-frequency phased array transducers. A 128-element 20-MHz phased array transducer is successfully fabricated, and the optimized performance of -6 dB average bandwidth of âˆ¼ 84 % and insertion loss of -43 dB are achieved. The axial and lateral imaging resolutions of the transducer are determined to be 81 µm and 243 µm, respectively. With Verasonics image platform, in vivo fisheye images are acquired, demonstrating the potential application of our developed high-frequency phased array transducer for biomedical research on small animals.


Assuntos
Transdutores , Animais , Desenho de Equipamento , Ultrassonografia
10.
Clin Radiol ; 77(10): e723-e731, 2022 10.
Artigo em Inglês | MEDLINE | ID: mdl-35811157

RESUMO

AIM: To investigate the performance of a generative adversarial network (GAN) model for staging liver fibrosis and its radiomics-based nomogram for predicting cirrhosis. MATERIALS AND METHODS: This two-centre retrospective study included 434 patients for whom input data of ultrasound images and histopathological data (obtained within 1 month of ultrasound examinations) were assigned to the training cohort (249 patients), the internal cohort (92 patients), and the external (93 patients) cohort. A data augmentation method based on a GAN model was used. The discriminative performance was evaluated for classifying fibrosis of S4 and ≥S3. Deep-learning radiomics features were extracted for the prediction of cirrhosis (S4). To perform feature reduction and selection, the least absolute shrinkage and selection operator (LASSO) algorithm was applied. Radiomics scores, along with clinical factors, were incorporated into a nomogram using multivariable logistic regression analysis. The performance of the models was estimated with respect to discrimination power, calibration, and clinical benefits. RESULTS: The areas under the receiver operating characteristic curve (AUCs) values of the GAN were 0.832/0.762 (≥S3), and 0.867/0.835 (S4) for internal/external test sets, respectively. The radiomics nomogram that intergrated radiomics scores and clinical factors showed good calibration and discrimination ability of 0.922 (AUC) in the training dataset, 0.896 in the internal dataset, and 0.861 in the external dataset. Decision curve analysis (DCA) demonstrated that the nomogram outperformed radiologist and haematological indices in terms of the most clinical benefits. CONCLUSIONS: The GAN model could be applied to discriminate fibrosis stages, and a favourable predictive accuracy for diagnosing cirrhosis was achieved using a deep-learning radiomics nomogram.


Assuntos
Aprendizado Profundo , Nomogramas , Humanos , Cirrose Hepática/diagnóstico por imagem , Estudos Retrospectivos , Ultrassonografia
11.
Zhonghua Xin Xue Guan Bing Za Zhi ; 50(7): 684-689, 2022 Jul 24.
Artigo em Chinês | MEDLINE | ID: mdl-35856225

RESUMO

Objective: To explore the value of the assessment of plasma trimethylamine N-oxide (TMAO) combined with N-terminal pro-B-type natriuretic peptide (NT-proBNP) on predicting the all-cause mortality, length of hospitalization, and hospital cost in ischemic heart failure (IHF) patients. Methods: This prospective cohort study included 189 patients (157 males, mean age (64.0±10.5) years) with a left ventricular ejection fraction<45% caused by coronary artery disease, who hospitalized in our department from March 2016 to December 2020. Baseline data, including demographics, comorbid conditions and laboratory examination, were analyzed. The cumulative rate of all-cause mortality was evaluated using the Kaplan-Meier method and compared between the groups according to the log-rank test. Relative risks were reported as hazard ratios (HR) and 95% confidence interval (95%CI) calculated using the Cox proportional-hazards analysis, with stepwise adjustment for covariables. Spearman correlation analysis was then performed to determine the relationship between TMAO combined with NT-proBNP and length of hospitalization and hospital cost. Results: There were 50 patients in the low TMAO+low NT-proBNP group, 89 patients in high TMAO or high NT-proBNP group, 50 patients in high TMAO+high NT-proBNP group. The mean follow-up period was 3.0 years. Death occurred in 70 patients (37.0%), 27 patients (54.0%) in high TMAO+high NT-proBNP group, 29 patients (32.6%) in high TMAO or high NT-proBNP group and 14 patients (28.0%) in low TMAO+low NT-proBNP group. TMAO, in combination with NT-proBNP, improved all-cause mortality prediction in IHF patients when stratified as none, one or both biomarker(s) elevation, with the highest risk of all-cause mortality in high TMAO+high NT-proBNP group (HR=3.62, 95%CI 1.89-6.96, P<0.001). ROC curve analysis further confirmed that TMAO combined with NT-proBNP strengthened the prediction performance on the risk of all-cause death (AUC=0.727(95%CI 0.640-0.813), sensitivity 55.0%, characteristic 83.1%). Spearman correlation analysis showed that IHF patients with high TMAO and high NT-proBNP were positively associated with longer duration of hospitalization (r=0.191,P=0.009), but not associated with higher hospital cost (r=0.030, P=0.686). Conclusions: TMAO combined with NT-proBNP are valuable prediction tool on risk stratification of patients with IHF, and those with two biomarkers elevation face the highest risk of mortality during follow-up period, and are associated with the longer hospital stay.


Assuntos
Insuficiência Cardíaca , Metilaminas , Peptídeo Natriurético Encefálico , Idoso , Biomarcadores/sangue , Feminino , Insuficiência Cardíaca/sangue , Insuficiência Cardíaca/diagnóstico , Hospitalização , Humanos , Masculino , Metilaminas/sangue , Pessoa de Meia-Idade , Peptídeo Natriurético Encefálico/sangue , Fragmentos de Peptídeos , Prognóstico , Estudos Prospectivos
12.
Zhonghua Er Ke Za Zhi ; 60(6): 522-526, 2022 Jun 02.
Artigo em Chinês | MEDLINE | ID: mdl-35658356

RESUMO

Objective: To investigate the spectrum of amino acid, organic acid, and fatty acid oxidative metabolic diseases in children diagnosed by detecting urinary organic acid levels using gas chromatography-mass spectrometry. Methods: From January 2005 to December 2021, clinical data of 2 461 children diagnosed with inherited metabolic diseases (IMD) by gas chromatography-mass spectrometry, in combination with tandem mass spectrometry and genetic testing in Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine were retrospectively analyzed. Results: Among 2 461 children, 1 446 were male and 1 051 were female. A total of 32 types of IMD were detected among 2 461 patients, which included 10 amino acid disorders in 662 cases (26.9%), 6 common diseases were hyperphenylalaninemia, citrin deficiency, ornithine carbamoyltransferase deficiency, maple syrup urine disease, alkaptonuria, and tyrosinemia-I, 17 types of organic acidemias in 1 683 cases (68.4%), 6 common diseases were methylmalonic acidemia, propionic acidemia, valeric acidemia-type Ⅰ, isovaleric acidemia, 3-methylcrotonyl-CoA carboxylase deficiency and multiple carboxylase deficiency and 5 fatty acid ß oxidative defects in 116 cases (4.7%), 2 common diseases were multiple acyl-CoA dehydrogenase deficiency and short-chain acyl-CoA dehydrogenase deficiency). Conclusion: Among the diseases diagnosed by analyzing urinary organic acid profiling with gas chromatography-mass spectrometry, the most common are organic acidemias, followed by amino acid disorders and fatty acid oxidation defects.


Assuntos
Erros Inatos do Metabolismo dos Aminoácidos , Doenças Metabólicas , Acidemia Propiônica , Erros Inatos do Metabolismo dos Aminoácidos/diagnóstico , Aminoácidos , Criança , China , Ácidos Graxos/metabolismo , Feminino , Cromatografia Gasosa-Espectrometria de Massas/métodos , Humanos , Masculino , Doenças Metabólicas/diagnóstico , Acidemia Propiônica/diagnóstico , Estudos Retrospectivos , Análise Espectral
13.
J Physiol Pharmacol ; 73(6)2022 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37087569

RESUMO

To observe the regulation of B-cell lymphoma-2 (Bcl-2)/Beclin 1 interaction through electroacupuncture (EA) intervention during reperfusion and to investigate the EA mechanism of apoptosis-autophagy interactive regulation against myocardial ischemia-reperfusion injury (MIRI). A total of 48 adult Sprague Dawley (SD) rats were randomly divided into the sham-operated group (group Sham), the model group (group Model), the EA group (group EA), and the JNK inhibitor (SP600125) group (group JNK), with 12 rats in each group. Biospecimens were collected randomly from six rats in each group four hours after reperfusion. Evans Blue and triphenyl tetrazolium chloride double-staining were applied to observe each group's myocardial damage area and risk area. We collected 4 ml of blood by abdominal aortic method to detect serum troponin cTnI level by enzyme-linked immunosorbent assay (ELISA). For the remaining six in each group, a part of myocardial tissue below the ligation line was stored in 4% paraformaldehyde for immunohistochemistry and TUNEL staining; the other amount of myocardial tissue was detected by Western blotting to determine the expression levels of Bcl-2, Beclin1, and the phosphorylation levels of Thr69, Ser70, and Ser87 in Bcl-2. In results: electroacupuncture (EA) intervention during reperfusion significantly reduced the myocardial infarction area, cTnI level, and myocardial apoptosis, upregulated Bcl-2 expression, downregulated Beclin 1 expression and inhibited phosphorylation levels of Thr69, Ser70, and Ser87 in Bcl-2. We concluded that EA effectively inhibited apoptosis by upregulating Bcl-2 expression and inhibiting the phosphorylation of Thr69, Ser70, and Ser87 in Bcl-2. This reduced the separation of Bcl-2 and Beclin 1, restrains excessive autophagy, alleviates MIRI, and has a protective effect on myocardial tissue.


Assuntos
Proteína Beclina-1 , Eletroacupuntura , Proteínas Proto-Oncogênicas c-bcl-2 , Traumatismo por Reperfusão , Reperfusão , Animais , Ratos , Traumatismo por Reperfusão Miocárdica/terapia , Ratos Sprague-Dawley , Reperfusão/métodos , Traumatismo por Reperfusão/metabolismo
14.
AJNR Am J Neuroradiol ; 43(1): 93-97, 2022 01.
Artigo em Inglês | MEDLINE | ID: mdl-34824099

RESUMO

BACKGROUND AND PURPOSE: Accurate and reliable detection of medium-vessel occlusions is important to establish the diagnosis of acute ischemic stroke and initiate appropriate treatment with intravenous thrombolysis or endovascular thrombectomy. However, medium-vessel occlusions are often challenging to detect, especially for unexperienced readers. We aimed to evaluate the accuracy and interrater agreement of the detection of medium-vessel occlusions using single-phase and multiphase CTA. MATERIALS AND METHODS: Single-phase and multiphase CTA of 120 patients with acute ischemic stroke (20 with no occlusion, 44 with large-vessel occlusion, and 56 with medium-vessel occlusion in the anterior and posterior circulation) were assessed by 3 readers with varying levels of experience (session 1: single-phase CTA; session 2: multiphase CTA). Interrater agreement for occlusion type (large-vessel occlusion versus medium-vessel occlusion versus no occlusion) and for detailed occlusion sites was calculated using the Fleiss κ with 95% confidence intervals. Accuracy for the detection of medium-vessel occlusions was calculated for each reader using classification tables. RESULTS: Interrater agreement for occlusion type was moderate for single-phase CTA (κ = 0.58; 95% CI, 0.56-0.62) and almost perfect for multiphase CTA (κ = 0.81; 95% CI, 0.78-0.83). Interrater agreement for detailed occlusion sites was moderate for single-phase CTA (κ = 0.55; 95% CI, 0.53-0.56) and substantial for multiphase CTA (κ = 0.71; 95% CI, 0.67-0.74). On single-phase CTA, readers 1, 2, and 3 classified 33/56 (59%), 34/56 (61%), and 32/56 (57%) correctly as medium-vessel occlusions. On multiphase CTA, 48/56 (86%), 50/56 (89%), and 50/56 (89%) medium-vessel occlusions were classified correctly. CONCLUSIONS: Interrater agreement for medium-vessel occlusions is moderate when using single-phase CTA and almost perfect with multiphase CTA. Detection accuracy is substantially higher with multiphase CTA compared with single-phase CTA, suggesting that multiphase CTA might be a valuable tool for assessment of medium-vessel occlusion stroke.


Assuntos
Isquemia Encefálica , AVC Isquêmico , Acidente Vascular Cerebral , Angiografia Cerebral , Angiografia por Tomografia Computadorizada , Humanos , Estudos Retrospectivos , Acidente Vascular Cerebral/diagnóstico por imagem , Trombectomia
15.
Zhonghua Yu Fang Yi Xue Za Zhi ; 55(10): 1181-1185, 2021 Oct 06.
Artigo em Chinês | MEDLINE | ID: mdl-34706501

RESUMO

Objective: To analyze the related polities about disease control and prevention system in China from 2000 to 2020, and to provide implication for the policy formulation of disease control and prevention system in the future. Methods: Policy documents were searched in the official websites of relevant government departments including the State Council, National Health Commission, National Development and Reform Commission, Ministry of Human Resources and Social Security, and Ministry of Finance by using the keywords related to disease control and prevention from 2000 to 2020. Thematic framework and content analysis were performed to analyze the eligible policy documents based on the theory of policy instruments. Results: A total of 37 policy documents were included in this study. The application of single policy instrument was common (81.1%), of which the capacity building instrument was the most frequently used (32.4%), followed by mandate instrument (21.6%) and inducement instrument (13.5%), while system-changing instrument (8.1%) and symbolic and hortatory instrument were less used (5.4%). The main policy themes were personnel system (15.2%) and system construction (15.2%), followed by personnel development (13.0%) and information construction (2.2%). Conclusion: In the policy formulation process, the government should strengthen the comprehensive application of multiple policy instruments. Particularly about the inducement instrument and symbolic and hortatory instrument to further stimulate the internal motivation of disease control and prevention system and institutions in China.


Assuntos
Política de Saúde , Formulação de Políticas , China , Governo , Humanos
16.
Zhonghua Yu Fang Yi Xue Za Zhi ; 55(10): 1186-1191, 2021 Oct 06.
Artigo em Chinês | MEDLINE | ID: mdl-34706502

RESUMO

Objective: To analyze the achievement of policy goals and actual changes of representative structure quality indicators related to disease control and prevention system during 2002-2018 in China. Methods: Quantified policy goals of structure quality including the number of workers, the proportion with bachelor degree and working environment were extracted from relevant policy documents and the data about representative structure quality indicators, including finance, human resources and working environment, were extracted from health statistics yearbooks. Comparative analysis was adopted in this study. Results: First, the designed policy goals were partly achieved. The number of workers per ten thousand people was lower than 1.75 in 2015. The target proportion of workers with bachelor degree was achieved by four year later in 2016. Only average building area per person was achieved according to the goal set in 2009. Second, it showed huge discrepancy among the proportion of financial subsidy, average personnel expenditure per person, and the number of workers at different levels of centers for disease control and prevention (CDC) from 2002 to 2018. The development of county-level CDCs was more restrained. Conclusion: Appropriate policy goals regarding financial support, human resources, and working environment should be strengthened at national level and quality improvement strategies should be established in the CDC system, particularly for county-level CDCs.


Assuntos
Recursos Humanos , Centers for Disease Control and Prevention, U.S. , China , Humanos , Estados Unidos
17.
Zhonghua Yu Fang Yi Xue Za Zhi ; 55(10): 1192-1195, 2021 Oct 06.
Artigo em Chinês | MEDLINE | ID: mdl-34706503

RESUMO

Objective: To analyze the change of the number of staff at the provincial center for disease control and prevention (CDC) in China before and after the new health care reform. Methods: The data was from publicly reported health statistics yearbooks from 2002 to 2018. Descriptive analysis and interrupted time series analysis (ITS) were conducted in Stata/SE 15. Results: The decreasing trend of total number and average number of CDC staff per ten thousand people further exacerbated in the eastern and central areas after the new health care reform, while the total number of CDC staff in the western area changed from a decreasing trend to an increasing tend and the decreasing trend of average number of CDC staff per ten thousand people slowed down. After controlling the provincial and time fixed effects, the ITS analysis showed that before the reform, the number of CDC staff in central area showed a decreasing trend (P=0.012). After the reform, no statistically significant changes were observed in the number of CDC staff in the eastern, central and western areas increased instantaneously (P>0.05), and the decreasing trend (slope) of the number of CDC staff in the eastern and central areas further increased. The number of CDC staff in the western area changed to an increasing trend (P>0.05). Conclusion: After the new health care reform, the total number and average number of CDC staff at the provincial level have not improved, therefore targeted reform strategies are needed to reverse the continuous reduction of CDC staff and reflect regional differences in the future.


Assuntos
Reforma dos Serviços de Saúde , China , Previsões , Humanos , Análise de Séries Temporais Interrompida
18.
Zhonghua Yu Fang Yi Xue Za Zhi ; 55(10): 1263-1269, 2021 Oct 06.
Artigo em Chinês | MEDLINE | ID: mdl-34706515

RESUMO

Through literature search in regular database and official websites of relevant countries, this paper combs and summarizes the main characteristics of disease prevention and control systems in five countries, the United States, Germany, South Korea, Australia and Japan, and the European Union at key levels including legal construction, organizational structure, financing, personnel construction and international cooperation, in order to provide decision support for the construction of disease prevention and control system in China in the future.


Assuntos
Cooperação Internacional , Austrália , China , Humanos , Japão , República da Coreia , Estados Unidos
19.
Zhonghua Er Ke Za Zhi ; 59(8): 695-699, 2021 Aug 02.
Artigo em Chinês | MEDLINE | ID: mdl-34333924

RESUMO

Objective: To explore the clinical characteristics, genotypes and long-term outcomes of individuals with 3-methylglutaconic aciduria. Methods: The clinical features, biochemical data, genetic test results and treatment outcomes of six children with 3-methylglutaconic aciduria admitted to the Department of Endocrinology, Genetics and Metabolism, Xinhua Hospital from February 2017 to February 2019 were retrospectively analyzed and the Gesell developmental diagnosis schedule was performed to evaluate the development of four patients. Results: Among 6 children with 3-methylglutaconic aciduria 2 were males and 4 were females.Four cases had 3-methylglutaconic aciduria type Ⅰ and 2 cases had 3-methylglutaconic aciduria with deafness,encephalopathy, and Leigh-like syndrome. Five of 6 patients were detected by newborn screening among whom 4 remained asymptomatic, and only one had a postmortem diagnosis. Among them, 4 patients remained asymptomatic, while two presented with clinical symptoms such as jaundice and dyspnea and the age of disease onset was 1 and 2 days respectively. The concentration of 3-methylglutaconic acid in urine of all affected individuals was between 22.38 and 77.09 mmol/molCr, which was above the normal value. Genetic tests were performed for all patients. Eleven variants were identified in 2 genes, of which 10 variants were novel and only c.442C>T p.(R148X) has been previously reported; Seven variants (c.656-2delA, EX5-EX6 Del, c.942+3A>G, c.373C>T p.(R125W), c.895-3C>G, c.667C>T p.(R223X) and c.894+5G>A) were in AUH gene. The others (c.548G>A p.(R138Q), c.442C>T p.(R148X), c.1339C>T p.(R447X) and c.973dupA p.(M325Nfs*5) were in SERAC1 gene. After being treated with leucine diet restriction and L-carnitine, 4 patients with AUH gene variation who were from asymptomatic phase developed normally, whereas those 2 patients with SERAC1 gene variation had a poor prognosis. During the follow-up, 2 patients exhibited varying degrees of psychomotor retardation, the rest had normal course of development. Conclusions: There are significant clinical heterogeneities among individuals with 3-methylglutaconic aciduria. The most common pathogenic variants are splicing variations, followed by nonsense, missense and frameshift mutations. Leucine-free diet and oral L-carnitine therapy are effective for some patients. Newborn screening is essential for early diagnosis and improvement of prognosis.


Assuntos
Encefalopatias , Erros Inatos do Metabolismo , Criança , Feminino , Glutaratos , Humanos , Recém-Nascido , Masculino , Mutação , Triagem Neonatal , Estudos Retrospectivos
20.
Zhonghua Yi Xue Za Zhi ; 101(31): 2465-2470, 2021 Aug 17.
Artigo em Chinês | MEDLINE | ID: mdl-34399561

RESUMO

Objective: To establish the standard operation procedure (SOP) for detection of oligoclonal band (OCB) in cerebrospinal fluid (CSF) and verify consistency by using this SOP in different laboratories. Methods: The SOP for detection of CSF-OCB fluid was successfully established by an expert feedback approach. Neuroimmunology laboratories in 3 representative Chinese three-tier research hospitals were selected for this study, and commercially available protein electrophoresis automation systems and detection SOP were set up. The quality control product was provided by the College of American Pathologists (CAP) and Sebiacompany were used for interior quality and compared to each other, respectively. Seventeen serum and CSF paired samples were tested and compared using the same SOP. Kappa test or Kendall W test were adopted to evaluate the inter-laboratory consistency among different hospitals. Results: The results of repeated testings in a single hospital suggested that the 2-and 4-fold dilution for CSF-OCB were reported as positive, while 64-and 128-fold dilution were reported as negative. Positive or negative inconsistencies were reported in 8-, 16-, and 32-fold dilution. After increasing the number of repetitions, the results showed that both 16-and 32-fold dilution were reported as negative, and 8-fold dilution exhibited negative results (2 positive results for 40 repetitions, coincidence rate=95%).The results of multi-center inter-laboratory quality assessment showed that the detection consistency rate among 3 hospitals was 100% (Kappa value =1). Conclusions: The SOP to detect CSF-OCB established in this study demonstrates a good repeatability and stability. Therefore,such SOP would be a good reference for diagnostic laboratories to detect CSF-OCB in China.


Assuntos
Esclerose Múltipla , Bandas Oligoclonais , Humanos , Imunoglobulina G , Laboratórios , Soro
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