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1.
Diabetes Metab Syndr Obes ; 16: 2141-2151, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37484515

RESUMO

Purpose: The objective of this study was to employ machine learning (ML) models utilizing non-invasive factors to achieve early and low-cost identification of MetS in a large physical examination population. Patients and Methods: The study enrolled 9171 participants who underwent physical examinations at Northern Jiangsu People's Hospital in 2009 and 2019, to determine MetS based on criteria established by the Chinese Diabetes Society. Non-invasive characteristics such as gender, age, body mass index (BMI), systolic blood pressure (SBP), and diastolic blood pressure (DBP) were collected and used as input variables to train and evaluate ML models for MetS identification. Several ML models were used for MetS identification, including logistic regression (LR), k-nearest neighbors algorithm (k-NN), naive bayesian (NB), decision tree (DT), random forest (RF), artificial neural network (ANN), and support vector machine (SVM). Results: Our ML models all showed good performance in the 10-fold cross-validation except for the SVM model. In the external validation, the NB model exhibited the best performance with an AUC of 0.976, accuracy of 0.923, sensitivity of 98.32%, and specificity of 91.32%. Conclusion: This study proposed a new non-invasive method for early and low-cost identification of MetS by using ML models. This approach has the potential to serve as a highly sensitive, convenient, and cost-effective tool for large-scale MetS screening.

2.
Healthcare (Basel) ; 11(5)2023 Mar 03.
Artigo em Inglês | MEDLINE | ID: mdl-36900755

RESUMO

The ageing population is increasing rapidly in Taiwan, where the ageing rate exceeds even that of Japan, the United States and France. The increase in the disabled population and the impact of the COVID-19 pandemic have resulted in an increase in the demand for long-term professional care, and the shortage of home care workers is one of the most important issues in the development of such care. This study explores the key factors that promote the retention of home care workers through multiple-criteria decision making (MCDM) to help managers of long-term care institutions retain home care talent. A hybrid model of multiple-criteria decision analysis (MCDA) combining Decision-Making Trial and Evaluation Laboratory (DEMATEL) and the analytic network process (ANP) was employed for relative analysis. Through literature discussion and interviews with experts, all factors that promote the retention and desire of home care workers were collected, and a hierarchical MCDM structure was constructed. Then, the hybrid MCDM model of DEMATEL and the ANP was used to analyze the questionnaire data of seven experts to evaluate the factor weights. According to the study results, the key direct factors are improving job satisfaction, supervisor leadership ability and respect, while salary and benefits are the indirect factor. This study uses the MCDA research method and establishes a framework by analyzing the facets and criteria of different factors to promote the retention of home care workers. The results will enable institutions to formulate relevant approaches to the key factors that promote the retention of domestic service personnel and to strengthen the intention of Taiwan's home care workers to stay in the long-term care industry.

3.
Front Public Health ; 10: 915637, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35937212

RESUMO

Objective: To investigate injury trends, injury distribution, and disease burden from three surveillance hospitals in Urumqi from 2006 to 2018. Method: Injury data from the National Injury Surveillance System (NISS) from three hospitals in Urumqi (2006 to 2018) were collected to analyze changes in the characteristics of outpatient injury cases. Years of potential life lost (YPLL) were calculated to determine the disease burden of the injury cases. Results: A total of 161,400 injury cases were recorded over 13 years, and the average age of the patient seeking medical attention was 32.4 years old. Male patients outnumbered female patients with a ratio of 1.6:1, but the proportion of female patients was greater after 45 years of age. The highest number of cases occurred in patients 15-29 years of age, accounting for 26.8% of all injury cases. Injury in females occurred most frequently in the home. A total of 41.4% of injury cases occurred while doing housework. The top three causes of injury were falls (49.7%), blunt force of an object, (13.7%), and motor vehicle accidents (MVA) (13.5%). Years of potential life lost from injury accounted for 7.39% of the total YPLL in the three hospitals. Conclusion: Males should be targeted for injury prevention and intervention in Urumqi. The prevention of falls, blunt force of objects, and MVA should be made a priority. Injury prevention strategies and targeted projects should be developed to reduce the disease burden of injury.


Assuntos
Acidentes por Quedas , Hospitais , Acidentes por Quedas/prevenção & controle , Adulto , Efeitos Psicossociais da Doença , Feminino , Humanos , Masculino
4.
Front Public Health ; 10: 875373, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35719610

RESUMO

Objectives: Regular sports participation is a gendered phenomenon in China. Women have reported much higher constraints than men on time, partner, psychology, knowledge, and interest. This study explores personal, family, lifestyle, and health factors associated with sports participation. Study Design: This study is a cross-sectional study. Methods: Data were collected from the national reprehensive China Family Panel Studies (CFPS) database (2018) to analyze personal information, family background, lifestyle, and health in relation to women's sports participation. Multiple classification logistic regression was used to quantify the association between independent variables and sports time. Results: Women with high personal income and education, who were unmarried, in faster economic development areas have more awareness and more time for sports participation. Women who were overweight and self-rated as unattractive spent less time on sports participation. Women with a small family population and no children have more time for sports participation. Less time on the internet and moderate sleep contribute to active sports participation. Women with chronic diseases and high medical costs are less likely to participate in sports. Conclusions: Negative body aesthetic perception, the burden of family environment, modernization of lifestyle, and the normalization of sub-health are essential factors affecting women's sports participation. The government should understand the inner and outer barriers to women's participation in sports, develop policies and regulations to protect and support women's sports participation, and guide and monitor the effective implementation of women's sports activities.


Assuntos
Governo , China , Estudos Transversais , Escolaridade , Feminino , Humanos , Masculino , Fatores Socioeconômicos
6.
Eur Arch Otorhinolaryngol ; 279(4): 1885-1890, 2022 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-34129085

RESUMO

PURPOSE: This study was conducted to evaluate outcomes in patients presenting with fungus ball of the maxillary sinus (MSFB) and frontal sinusitis who were treated via middle meatal antrostomy alone. METHODS: This was a randomized, controlled study with a parallel group design. Patients with MSFB and frontal sinusitis were randomly assigned to the maxillary middle meatal antrostomy (MMMA) or control (MMMA + frontal sinusotomy) groups. Patient demographics, complaints, imaging findings were analyzed, and surgical outcomes were evaluated using the Lund-Kennedy endoscopic score (LKES) and the 22-item Sino-Nasal Outcome Test (SNOT-22) questionnaire. RESULTS: In total, 40 patients were separated into two groups, with similar symptoms including nasal obstruction, mucopurulent rhinorrhea, maxillary or frontal pain, blood stained nasal discharge, nasal cacosmia and orbital pain being observed in both groups. Total LKES and SNOT-22 scores were significantly improved in both groups at 6 months post-treatment, with no significant differences in these scores between groups within a mean 6.8-month follow-up. CONCLUSION: These results suggest that frontal sinusotomy is not required to resolve frontal sinusitis associated with MSFB. As such frontal sinusitis appears to be a reactive process caused by fungal ball obstruction, it regresses spontaneously following fungus ball removal, drainage of the maxillary sinus, and middle meatal antrostomy.


Assuntos
Seio Frontal , Sinusite Frontal , Sinusite Maxilar , Doença Crônica , Endoscopia/métodos , Seio Frontal/diagnóstico por imagem , Seio Frontal/cirurgia , Sinusite Frontal/complicações , Sinusite Frontal/diagnóstico por imagem , Sinusite Frontal/cirurgia , Fungos , Humanos , Seio Maxilar/diagnóstico por imagem , Seio Maxilar/cirurgia , Sinusite Maxilar/etiologia , Sinusite Maxilar/cirurgia , Resultado do Tratamento
7.
Nat Commun ; 12(1): 5472, 2021 09 16.
Artigo em Inglês | MEDLINE | ID: mdl-34531406

RESUMO

Dual-energy X-ray absorptiometry (DXA) is underutilized to measure bone mineral density (BMD) and evaluate fracture risk. We present an automated tool to identify fractures, predict BMD, and evaluate fracture risk using plain radiographs. The tool performance is evaluated on 5164 and 18175 patients with pelvis/lumbar spine radiographs and Hologic DXA. The model is well calibrated with minimal bias in the hip (slope = 0.982, calibration-in-the-large = -0.003) and the lumbar spine BMD (slope = 0.978, calibration-in-the-large = 0.003). The area under the precision-recall curve and accuracy are 0.89 and 91.7% for hip osteoporosis, 0.89 and 86.2% for spine osteoporosis, 0.83 and 95.0% for high 10-year major fracture risk, and 0.96 and 90.0% for high hip fracture risk. The tool classifies 5206 (84.8%) patients with 95% positive or negative predictive value for osteoporosis, compared to 3008 DXA conducted at the same study period. This automated tool may help identify high-risk patients for osteoporosis.


Assuntos
Absorciometria de Fóton/métodos , Algoritmos , Densidade Óssea , Aprendizado Profundo , Fraturas Ósseas/diagnóstico por imagem , Osteoporose/diagnóstico por imagem , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Fraturas Ósseas/fisiopatologia , Fraturas do Quadril/diagnóstico por imagem , Fraturas do Quadril/fisiopatologia , Humanos , Vértebras Lombares/diagnóstico por imagem , Vértebras Lombares/fisiopatologia , Masculino , Pessoa de Meia-Idade , Osteoporose/fisiopatologia , Medição de Risco/métodos , Medição de Risco/estatística & dados numéricos , Fatores de Risco , Sensibilidade e Especificidade
8.
Ear Nose Throat J ; 100(5_suppl): 618S-623S, 2021 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31914815

RESUMO

OBJECTIVE: This study describes a surgical approach wherein a lobulated pedicled nasal mucosa flap technique was employed for endoscopic dacryocystorhinostomy (EDCR) as a means of treating nasolacrimal duct obstructions. This study also assessed the long-term outcomes of this EDCR approach when implemented without stenting. METHODS: This was a retrospective study of a total of 63 patients (67 eyes) treated for nasolacrimal duct obstructions between January 2011 and November 2016. All patients had undergone ophthalmic diagnosis followed by EDCR treatment using a lobulated pedicled nasal mucosa flap without stenting. Patients were then monitored for both anatomical patency and sustained symptom relief during the follow-up period in order to assess objective and subjective study outcomes. RESULTS: Patients were followed for a mean of 25.3 ± 1.2 months (range: 24-28 months), with a 100% anatomical patency success rate (67/67) and a 94.03% symptomatic cure rate (63/67). There were no instances of complications. CONCLUSIONS: The use of a lobulated pedicled nasal mucosa flap technique for EDCR without stenting is a straightforward, effective, and safe approach that keeps bone exposure to a minimum while offering a high rate of satisfactory outcomes, making it a procedure worthy of consideration as a means of treating patients suffering from nasolacrimal duct obstructions.


Assuntos
Dacriocistorinostomia/métodos , Obstrução dos Ductos Lacrimais/terapia , Mucosa Nasal/transplante , Ducto Nasolacrimal/cirurgia , Retalhos Cirúrgicos , Adulto , Dacriocistorinostomia/instrumentação , Endoscopia/métodos , Feminino , Humanos , Masculino , Estudos Retrospectivos , Resultado do Tratamento
9.
Nutrients ; 12(3)2020 Mar 20.
Artigo em Inglês | MEDLINE | ID: mdl-32245095

RESUMO

Study on the impact of pretreatment malnutrition on treatment outcomes in locally advanced head and neck cancer (LAHNC) patients is still lacking. We prospectively collected various malnutrition assessment methods including nutrition indexes, inflammatory biomarkers, and lean body mass index (LBMI) data before treatments. The one year mortality rate was assessed, and the factors associated with this outcome were investigated. Furthermore, the association between malnutrition assessment methods was examined. A total of 113 patients were enrolled. By prognostic stratification based on the prognostic nutritional index (PNI) and platelet-to-lymphocyte ratio (PLR) combination, the low PNI/high PLR group had highest and the high PNI/low PLR group had the lowest mortality rate. Furthermore, the PNI was positively correlated with the LBMI, and the PLR was inversely correlated with the LBMI. PNI and PLR were found to be independent prognostic factors of one year mortality and also associated with the loss of muscle.


Assuntos
Neoplasias de Cabeça e Pescoço/complicações , Neoplasias de Cabeça e Pescoço/epidemiologia , Desnutrição/epidemiologia , Desnutrição/etiologia , Avaliação Nutricional , Adulto , Idoso , Biomarcadores , Quimiorradioterapia , Feminino , Neoplasias de Cabeça e Pescoço/patologia , Neoplasias de Cabeça e Pescoço/terapia , Humanos , Masculino , Desnutrição/diagnóstico , Pessoa de Meia-Idade , Mortalidade , Estado Nutricional , Prognóstico , Vigilância em Saúde Pública
10.
Medicine (Baltimore) ; 99(7): e19139, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-32049836

RESUMO

This study aimed to examine the effect of a diabetes pay-for-performance (P4P) program on all-cause mortality in patients with newly diagnosed type 2 diabetes mellitus. Using a Taiwanese representative nationwide cohort, we recruited 5478 patients with newly diagnosed type 2 diabetes enrolled in the P4P program within 5 years after a diagnosis of diabetes between January 1, 2002 and December 31, 2010 and individuals not enrolled in the P4P program were recruited as the control group matched 1:1 with the study group. We used multivariate Cox proportional hazard models analysis to investigate the effect of the P4P program and adherence on all-cause mortality. A total of 250 patients died in the P4P group compared to 395 in the control group (mortality rate 104 vs 169 per 10,000 person-years, respectively, P < .0001). The control group also had more comorbidities. Patients enrolled in the P4P program demonstrated significant long-term survival benefits, of which the adjusted hazard ratio (aHR) for all-cause mortality was 0.58 [95% CI (0.48-0.69)]. In the study group, better adherence to the P4P program resulted in a greater reduction in mortality, with aHRs [95% CI] of 0.48 [0.38-0.62] and 0.36 [0.26-0.49] in subjects with a minimum 1-year and 2-year good P4P adherence, respectively. Participating in the P4P program within 5 years after the diagnosis of diabetes resulted in a significant reduction in all-cause mortality, and this effect was particularly pronounced in the patients with better adherence to the P4P program.


Assuntos
Diabetes Mellitus Tipo 2/mortalidade , Gerenciamento Clínico , Cooperação do Paciente/estatística & dados numéricos , Reembolso de Incentivo , Adulto , Idoso , Estudos de Casos e Controles , Estudos de Coortes , Comorbidade , Diabetes Mellitus Tipo 2/economia , Diabetes Mellitus Tipo 2/terapia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Taiwan/epidemiologia
11.
Drug Des Devel Ther ; 11: 3503-3510, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-29263648

RESUMO

AIM: Human cytochrome P450 3A4 is the most abundant isoform of P450 enzyme in the liver. It plays an important role in the metabolism of wide variety of xenobiotic and endogenous substrates. So far, there are few reports about the functional characterization of CYP3A4 variants in terms of specific substrates. The aim of this study was to systematically investigate the genetic polymorphisms of 23 CYP3A4 alleles and evaluate their catalytic activities on the metabolism of lidocaine in vitro. METHODS AND RESULTS: The wild-type and 22 CYP3A4 variants were expressed in Spodoptera frugiperda 21 insect cells. Then the insect microsomes were incubated with the CYP3A4-specific substrate lidocaine. Reactions were performed with 50-3,000 µM for 60 min at 37°C. Lidocaine and its metabolite monoethylglycinexylidide were analyzed by ultra-performance liquid chromatography-tandem mass spectrometry system. Of the 23 CYP3A4 allelic variants tested, 2 variants (CYP3A4*17 and CYP3A4*30) had no detectable enzyme activity; and 5 variants (CYP3A4*2, CYP3A4*5, CYP3A4*9, CYP3A4*16 and CYP3A4*24) showed significantly decreased intrinsic clearance values compared with wild-type CYP3A4*1. CONCLUSION: As the first study of all these CYP3A4 alleles for lidocaine metabolism, our results in vitro assessment may provide novel insights into the allele-specific and substrate-specific activity of CYP3A4 and may also offer a reference to the personalized treatment of lidocaine in a clinical setting.


Assuntos
Alelos , Citocromo P-450 CYP3A/genética , Citocromo P-450 CYP3A/metabolismo , Variação Genética/genética , Lidocaína/metabolismo , Animais , Humanos , Microssomos/enzimologia , Microssomos/metabolismo , Spodoptera/citologia
12.
Int J Clin Pharmacol Ther ; 55(10): 825-831, 2017 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-28793958

RESUMO

OBJECTIVE: To assess and compare the pharmacokinetic properties and bioavailability of a newly developed formulation of amisulpride with those of a conventional formulation in healthy Chinese volunteers under fasting state. MATERIALS AND METHODS: A single-dose, two-sequence crossover study was designed. 20 healthy subjects (14 males and 6 females) were randomized into two groups. A single oral dose of amisulpride (200 mg) was given after an overnight fast of 12 hours. Blood samples were taken at scheduled time spots and separated by a washout period of 14 days. Plasma concentration of amisulpride was measured by high-performance liquid chromatography-fluorescence detector (HPLC-FLD) method. RESULTS: The pharmacokinetic parameters of AUC0-tlast, AUC0-∞, and Cmax for the 20 subjects after a single oral dose of the trial preparation or the reference preparation were 4,767.2 and 4,856.3 ng×h×mL-1; 4,891.7 and 5,043.2 ng×h×mL-1; 584.7 and 586.3 ng×mL-1, respectively. The relative bioavailability was 98.9 ± 14.5%. No significant difference was found among the main pharmacokinetic parameters in the two preparations by ANOVA. The 90% confidence intervals for the geometric mean ratios (test/reference) of Cmax and AUC0-tlast were 90.7 - 109.1% and 92.5 - 103.6%, respectively, meeting the predetermined criteria (80 - 125%) for bioequivalence. No serious adverse events were reported. CONCLUSION: The study demonstrated that the two preparations met the regulatory criteria for bioequivalence and both formulations were well tolerated.
.


Assuntos
Medicamentos Genéricos/farmacocinética , Sulpirida/análogos & derivados , Comprimidos/farmacocinética , Administração Oral , Adulto , Amissulprida , Área Sob a Curva , Povo Asiático , Disponibilidade Biológica , Química Farmacêutica/métodos , Estudos Cross-Over , Feminino , Meia-Vida , Voluntários Saudáveis , Humanos , Masculino , Sulpirida/farmacocinética , Equivalência Terapêutica , Adulto Jovem
13.
PLoS One ; 12(4): e0175365, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28388631

RESUMO

Helicobacter pylori (H. pylori) infection may induce inflammatory cytokines or adipokines that influence bone turnover and bone fracture risk. This study aimed to evaluate the association among H. pylori infection, adipokines, and 10-year fracture risk using the Fracture Risk Assessment Tool scale. From August 2013 to February 2016, a community-based cohort was surveyed by Keelung Chang-Gung Memorial Hospital. Subjects were included if they were older than 40 years and not pregnant. All participants underwent a standardized questionnaire survey, physical examination, urea breath test, and blood tests. A total of 2,689 participants (1,792 women) were included in this cross-sectional study. In both sexes, participants with a high fracture risk were older and had higher adiponectin values than participants without a high fracture risk (mean age, female: 72.9 ± 5.6 vs. 55.8 ± 7.3 years, P < 0.0001; male: 78.9 ± 4.7 vs. 58.1 ± 8.9 years, P < 0.001) (adiponectin, female: 10.8 ± 6.3 vs. 8.7 ± 5.2 ng/ml, P < 0.001; male: 9.7 ± 6.1 vs. 5.5 ± 3.8 ng/ml, P < 0.001). Adiponectin was correlated with high fracture risk in both sexes, but H. pylori infection and leptin was not. In logistic regression analysis, adiponectin could not predict high fracture risk when adjusting the factor of body mass index (BMI) in men group. In conclusion, H. pylori infection and leptin could not predict 10-year fracture risk in either sex. Adiponectin was correlated with bone fracture risk in both sexes and the correlation might be from the influence of BMI.


Assuntos
Adiponectina/metabolismo , Fraturas Ósseas/complicações , Infecções por Helicobacter/metabolismo , Helicobacter pylori/isolamento & purificação , Leptina/metabolismo , Idoso , Estudos Transversais , Feminino , Infecções por Helicobacter/complicações , Humanos , Masculino , Pessoa de Meia-Idade
14.
Medicine (Baltimore) ; 96(50): e9180, 2017 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-29390327

RESUMO

Osteoporosis and metabolic syndrome (MS) share similar risk factors. Previous studies of association between bone marrow density (BMD) and MS are controversial. Moreover, some studies revealed that MS is associated with BMD but not with bone fracture. In clinical practice, patients pay more attention to bone fracture risk than BMD values. Hence, this study aimed to evaluate the association between MS and the 10-year bone fracture risk probability using a fracture risk assessment tool (FRAX) from community-based data. From March 2014 to August 2015, 2689 participants (897 men and 1792 women) were enrolled in this study. Inflammatory cytokines, such as tumor necrosis factor alpha and C-reactive protein, and adipokines were included for analysis.The mean age was 60.2 ±â€Š10.7 years in men and 58.9 ±â€Š9.6 years in women. The percentage of MS was 27.6% in men and 27.9% in women. Participants were divided into 2 groups, those with or without MS. Compared with women without MS, women with MS had a higher rate of fracture risk (22.8% vs 16.3%, P = .001). In contrast, men with MS had a lower rate of fracture risk then men without MS (5.6% vs 12.3%, P = .004). However, MS loss the association with a high bone fracture risk in men based on multivariate logistical regression analysis, after adjusting for confounding factor of body mass index (BMI). Conclusively, the result of regression analysis between MS and the bone fracture risk may be different in men and women, and BMI was an important confounding factor to interfere with the regression analysis.


Assuntos
Fraturas Ósseas/etiologia , Síndrome Metabólica/complicações , Biomarcadores/sangue , Densidade Óssea , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Medição de Risco , Fatores de Risco , Taiwan
15.
Taiwan J Obstet Gynecol ; 54(6): 722-5, 2015 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-26700992

RESUMO

OBJECTIVE: To evaluate the efficacy of the World Health Organization Fracture Risk Assessment Tool, excluding bone mineral density (pre-BMD FRAX), in identifying Taiwanese postmenopausal women needing dual-energy X-ray absorptiometry (DXA) examination for further treatment. MATERIALS AND METHODS: The pre-BMD FRAX score was calculated for 231 postmenopausal women who participated in public health education workshops in the local Keelung community, Taiwan. DXA scanning and vertebral fracture assessment (VFA) were arranged for women classified as intermediate or high risk for fracture using the pre-BMD FRAX fracture probability. RESULTS: Pre-BMD FRAX classified 26 women as intermediate risk and 37 as having high risk for fracture. Subsequent DXA scans for these 63 women showed that 36 were osteoporotic, 19 were osteopenic, and eight had normal bone density. Concurrent VFA revealed 25 spine factures in which 14 were osteoporotic, seven were osteopenic, and four had normal bone density. The efficacy of the pre-BMD FRAX score to identify those patients with low bone mass by DXA was 87.3% (55/63). When VFA was combined with BMD to identify those patients with high risk (osteopenia, osteoporosis, or spinal fracture), the efficacy of the pre-BMD score increased to 93.7% (59/63). According to the National Osteoporosis Foundation, the overall concordance between pre-BMD FRAX and BMD, expressed through the kappa index, was 0.967. Compared with the evaluation when BMD was used alone, there was a significant increase in efficacy in identifying women who need treatment using BMD plus VFA or FRAX plus BMD. Furthermore, the highest efficacy was achieved when FRAX with BMD and VFA was used. CONCLUSION: The pre-BMD FRAX score not only efficiently predicts postmenopausal patients who are potentially at risk and might require treatment but also reduces unnecessary DXA use. Concurrent VFA during DXA use increases spine fracture detection. This improvement in diagnostic efficacy allows clinicians to provide the most appropriate therapeutic recommendation.


Assuntos
Absorciometria de Fóton , Avaliação das Necessidades , Fraturas por Osteoporose/diagnóstico , Fraturas por Osteoporose/prevenção & controle , Pós-Menopausa , Medição de Risco/métodos , Idoso , Idoso de 80 Anos ou mais , Densidade Óssea , Doenças Ósseas Metabólicas/diagnóstico , Feminino , Humanos , Pessoa de Meia-Idade , Fraturas da Coluna Vertebral/diagnóstico , Taiwan , Procedimentos Desnecessários
16.
BMJ Open ; 5(5): e007506, 2015 May 19.
Artigo em Inglês | MEDLINE | ID: mdl-25991456

RESUMO

OBJECTIVES: Aetiological assessment of 71 probands whose clinical presentation suggested a genetic syndrome or auditory neuropathy. METHODS: Sanger sequencing was performed on DNA isolated from peripheral blood or lymphoblastoid cell lines. Genes were selected for sequencing based on each patient's clinical presentation and suspected diagnosis. Observed DNA sequence variations were assessed for pathogenicity by review of the scientific literature, and mutation and polymorphism databases, through the use of in silico tools including sorting intolerant from tolerant (SIFT) and polymorphism phenotyping (PolyPhen), and according to the recommendations of the American College of Medical Genetics and Genomics for the interpretation of DNA sequence variations. Novel DNA sequence variations were sought in controls. RESULTS: DNA sequencing of the coding and near-coding regions of genes relevant to each patient's clinical presentation revealed 37 sequence variations of known or uncertain pathogenicity in 9 genes from 25 patients. 14 novel sequence variations were discovered. Assessment of phenotypes revealed notable findings in 9 patients. CONCLUSIONS: DNA sequencing in patients whose clinical presentation suggested a genetic syndrome or auditory neuropathy provided opportunities for aetiological assessment and more precise genetic counselling of patients and families. The failure to identify a genetic aetiology in many patients in this study highlights the extreme heterogeneity of genetic hearing loss, the incompleteness of current knowledge of aetiologies of hearing loss, and the limitations of conventional DNA sequencing strategies that evaluate only coding and near-coding segments of genes.


Assuntos
Genótipo , Perda Auditiva Central/genética , Perda Auditiva/genética , Audição , Mutação , Fenótipo , Polimorfismo Genético , Sequência de Bases , DNA , Perda Auditiva/etiologia , Perda Auditiva Central/etiologia , Humanos , Análise de Sequência de DNA , Síndrome
17.
Zhonghua Liu Xing Bing Xue Za Zhi ; 26(1): 47-50, 2005 Jan.
Artigo em Chinês | MEDLINE | ID: mdl-15921595

RESUMO

OBJECTIVE: To introduce Menopause-Specific Quality of Life (MENQOL) into China, and to evaluate the quality of its Chinese Version. METHODS: MENQOL was translated into Chinese language and the reverse translation was done by several specialists. After retest study on 30 cases, validity, reliability and responsiveness were implemented in 409 cases with menopause syndrome in the multicenter study. RESULTS: 7 components were extracted in factor analysis, and the total cumulative contribution was 59.476%. By correlation analysis, 7 components were divided into four domains: vasomotor, psychosocial, physical and sexual items, same as in the English Version. The test-retest reliability of four domains were 0.806, 0.804, 0.941, 0.940 respectively. Cronbach alpha of four domains were 0.7258, 0.8234, 0.8475, 0.8641 respectively. There had been significant changes after treatment noticed. CONCLUSION: The measurement properties of MENQOL-Chinese Version including effectueness, reliability were met with satisfaction and seemed to be adaptable to Chinese menopause women.


Assuntos
Climatério , Indicadores Básicos de Saúde , Menopausa , Qualidade de Vida , China , Climatério/fisiologia , Climatério/psicologia , Feminino , Humanos , Menopausa/fisiologia , Menopausa/psicologia , Pessoa de Meia-Idade , Satisfação Pessoal , Psicometria , Saúde da Mulher
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