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31.
Congenital contractural arachnodactyly (CCA) was described by Beals and Hecht as an autosomal dominant disorder distinct from Marfan syndrome and comprising joint contractures, arachnodactyly, scoliosis, and a distinct “crumpled ear” deformity. While the disorder is similar to Marfan syndrome, it was split from it due to the distinct physical appearance of the patients and, more importantly, the lack of heart and eye findings. Since the original report, several CCA patients have been found to have mitral valve prolapse, structural cardiac anomalies, and occasionally aortic root dilatations similar to those seen in Marfan syndrome. We report on a patient with CCA with bilateral ectopia lentis and aortic root dilatation. Our review of the literature of CCA showed that serial echo-cardiography and careful eye examinations have not become a standard of medical practice in this condition. Partly this may be due to a lack of documented cases of CCA having severe ectopia lentis and cardiac complications. This patient underscores the need for periodic eye and echocardiographic evaluations of all CCA patients. 相似文献
32.
Tatsuya Ohno Masaru Wakatsuki Dang Huy Quoc Thinh Ngo Thanh Tung Dyah Erawati Nana Supriana C.R. Beena Devi Shingo Kato Kullathorn Thephamongkhol Yaowalak Chansilpa Miriam Joy C. Calaguas Xu Xiaoting Cao Jianping Parvin Akhter Banu Chul-Koo Cho Kumiko Karasawa Takashi Nakano Hirohiko Tsujii 《Journal of radiation research》2016,57(1):44-49
The aim of this study was to evaluate the toxicity and efficacy of radiotherapy concurrent with weekly cisplatin for T3–4 and N0–1 nasopharyngeal cancer. Between 2005 and 2010, 70 patients with nasopharyngeal cancer (T3–4 N0–1 M0, World Health Organization Type 2–3) from Vietnam, Indonesia, Malaysia and Thailand were registered. Patients were treated with 2D radiotherapy concurrent with weekly cisplatin (30 mg/m2). Neither adjuvant nor induction chemotherapy was given. Ninety-three percent of the patients completed at least four cycles of weekly cisplatin during radiotherapy. The median total doses for the primary tumor and positive lymph nodes were 70 and 66 Gy, respectively. The median overall treatment time of concurrent chemoradiotherapy was 52 days. No treatment-related deaths occurred. Grade 3–4 acute toxicities of mucositis, nausea/vomiting and leukopenia were observed in 34%, 4% and 4% of patients, respectively. With a median follow-up time of 52 months for the 40 surviving patients, the 3-year local control, locoregional tumor control, distant metastasis–free survival and overall survival rates were 80%, 75%, 74% and 80%, respectively. In conclusion, the current results illustrate that our concurrent chemoradiotherapy regimen was feasible, but disease control remained insufficient. Further research is encouraged in order to improve clinical outcomes. 相似文献
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34.
Elfride I. Sianturi MSc Dyah A. Perwitasari PhD Sitti N. Soltief Md. Atiqul Islam Bas Geboers PhD Katja Taxis 《Health & social care in the community》2021,29(1):127-134
Indonesia, the fourth most populated country in the world, has experienced a fivefold increase in Human Immunodeficiency Virus (HIV)-infected individuals since 2001. Little is known about health literacy in people living with HIV (PLHIV) in Indonesia. This study aimed to determine the level of health literacy among PLHIV in Indonesia and assess associations between sociodemographic variables, beliefs about medicines, stigma and health literacy. We conducted a cross-sectional study using questionnaires in PLHIV in Papua, Indonesia. The short version of the Test of Functional Health Literacy in Adults (S-TOFHLA), Beliefs about Medicines Questionnaire (BMQ) and HIV stigma scale as well as questions on demographic information were completed by the participants from two hospitals in Papua, Indonesia. In a multivariate logistic regression analysis, we assessed the association between sociodemographic variables, stigma, beliefs about medicine and low health literacy. Overall, 331 participants were included, 62.0% female, 67.0% Papuans. A total of 38.5% of participants had low health literacy. PLHIV with multi-dose regimen were less likely to have low health literacy than those taking a fixed-dose combination (OR = 0.51; 95%CI = 0.32–0.82). PLHIV who had social support in medicine-taking were more likely to have low health literacy (OR = 1.78; 95%CI = 1.07–2.97). More awareness about medication overuse (OR = 1.17; 95%CI = 1.06–1.29) and medication harm (OR = 1.10; 95%CI = 1.01–1.20) were also associated with having low health literacy. Overall, interventions targeting health literacy may be a promising strategy to improve self-management. 相似文献
35.
Emmy Pramesthi Dyah Soelistijani Nyilo Purnami M. S. Wiyadi 《Indian journal of otolaryngology and head and neck surgery》2018,70(3):355-361
Tinnitus is the perception of hearing the sound without any sound stimulus. It is a symptom of abnormality in a form of conductive disorder when it comes from the outer ear canal and middle ear. A tinnitus complaint has a normal hearing threshold but it has been not fully recognized its causes. Thus, an objective evaluation is needed to locate the abnormality by using OAE and BERA test. To analyze the association of TEOAE, DPOAE, and BERA to locate cochlear and retrocochlear disorders in tinnitus patients with normal hearing threshold. The study was conducted from August to November 2010 until the number of samples was fulfilled in Outpatient Clinic and Audiology Unit in Department of Otolaryngology-Head and Neck Surgery, Dr. Soetomo General Hospital Surabaya. The inclusion criteria in this study included: patients aged 20–50 years old, hearing threshold of?≤?25 dB, type A tympanogram. The comparison and the association test of TEOAE, DPOAE and BERA in tinnitus group were: TEOAE–BERA analysis result using Mc Nemar obtained p?=?0.006, Kappa p?=?0.047, likelihood ratio p?=?0.066, and the result of DPOAE–BERA analysis using Mc Nemar obtained p?=?0.008, Kappa p?=?0.439, likelihood ratio p?=?0.336. There was a difference in the results of DPOAE examination between tinnitus patients with normal hearing threshold and the control group. There was no difference in TEOAE and BERA test results between tinnitus patients with normal hearing threshold and the control group. This indicates an abnormality in the cochlear. 相似文献
36.
Dyah Aryani PerwitasariFredrick Dermawan PurbaSusan Fitria CandradewiMarwin MarwinAgung PermataMuhammad Barik Ulfa FazaBayu Priyo SeptiantoroAdrian A Kaptein 《Asian Pacific journal of cancer prevention》2023,24(4):1125-1130
Objective: This study aims to develop a mapping algorithm for EORTC QLQ-C30 to EQ-5D-5L which can produce utility values in patients with cancer. Methods: We used a cross sectional study design with 300 cancer patients. The research instruments used were EORTC QLQ-C30 and EQ-5D-5L. Data were collected by interviewing cancer patients who were hospitalized in the Kasuari Installation of Dr Kariadi Hospital Semarang, Indonesia. The Ordinary Least Squares (OLS) regression method was used to predict the utility value of EQ-5D-5L. This study uses two models to predict utility values, namely model 1 with all domains, and model 2 with domains that affect the EQ-5D-5L. The predictive power of regression on the model is evaluated by calculating the mean absolute error (MAE) and root mean square error (RMSE) values. Result: The highest score in the functional domain is the ‘emotional function’ domain (mean: 85.89; SD: 16.04) and the highest symptom domain is ‘weakness’ (mean: 36.21; SD:21.69). The predicted utility values of models 1 and 2 are 0.683. The mean absolute error (MAE) and root mean square error (RMSE) values of model 1 are 0.128 and 0.173, while in model 2 the MAE and RMSE values obtained are 0.125 and 0.168. Conclusion: The development of the mapping algorithm from the EORTC QLQ-C30 to EQ-5D-5L instrument shows a predictive value of utility in a sample of patients with cancer at Dr. Kariadi Hospital, Semarang, Indonesia. The utility prediction in both model is similar, however model 2 involves fewer domains and symptoms. 相似文献
37.
Fang‐Yuan Li Ayman W. El‐Hattab Erawati V. Bawle Richard G. Boles Eric S. Schmitt Fernando Scaglia Lee‐Jun Wong 《Human mutation》2010,31(8):E1632-E1651
Systemic primary carnitine deficiency (CDSP) is caused by recessive mutations in the SLC22A5 (OCTN2) gene encoding the plasmalemmal carnitine transporter and characterized by hypoketotic hypoglycemia, and skeletal and cardiac myopathy. The entire coding regions of the OCTN2 gene were sequenced in 143 unrelated subjects suspected of having CDSP. In 70 unrelated infants evaluated because of abnormal newborn screening (NBS) results, 48 were found to have at least 1 mutation/unclassified missense variant. Twenty‐eight of 33 mothers whose infants had abnormal NBS results were found to carry at least 1 mutation/unclassified missense variant, including 11 asymptomatic mothers who had 2 mutations. Therefore, sequencing of the OCTN2 gene is recommended for infants with abnormal NBS results and for their mothers. Conversely, 52 unrelated subjects were tested due to clinical indications other than abnormal NBS and only 14 of them were found to have at least one mutation/unclassified variant. Custom designed oligonucleotide array CGH analysis revealed a heterozygous ~1.6 Mb deletion encompassing the entire OCTN2 gene in one subject who was apparently homozygous for the c.680G>A (p.R227H) mutation. Thus, copy number abnormalities at the OCTN2 locus should be considered if by sequencing, an apparently homozygous mutation or only one mutant allele is identified. ©2010 Wiley‐Liss, Inc. 相似文献
38.
Cahyanur R Setyawan W Sudrajat DG Setyowati S Purnamasari D Soewondo P 《Acta medica Indonesiana》2011,43(2):122-128
Acromegaly is a rare disorder caused by excessive growth hormone. Majority of acromegaly are due to pituitary adenoma. It is estimated that 5% of pituitary adenoma become invasive and may grow to gigantic sizes (>4 cm in diameter). We would like to describe a man with giant invasive adenoma. We describe the case of 52-year-old man with acromegaly. The patient was presented to medical care because of hemichorea. He also had visual field defect, uncontrolled diabetes, and dyslipidemia. Hormonal profile showed increment of GH 2-hour after a standard 75-g oral glucose load and of high IGF-1 level with low level of FSH and LH. The next was performed by pituitary imaging. Magnetic resonance imaging showed a macroadenoma with diameter 2.3x3.5x6.6 cm3 that fills the sella tursica, and enlarges into suprasella, genu of corpus collosum, and invades third ventricle. This report describes a rare case of acromegalic patient with giant invasive adenoma. This could be a demonstrative case and lesson for diagnosis and manage acromegalic patient. 相似文献
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Aim: to obtain prevalence of insulin resistance among siblings of subjects with type 2 DM and their metabolic abnormality profiles as measured by their BMI, waist circumference (WC), blood pressure, glucose intolerance, concentration of triglyceride, HDL cholesterol, and uric acid. Methods: a preliminary, cross sectional study conducted among 30 siblings from seven type 2 DM subjects under medical treatment in Dr. Cipto Mangunkusumo Hospital and other places where the subjects lived. Those subjects underwent interviews, physical examination including weight, height, abdominal circumference, blood pressure and laboratory examinations including glucose tolerance test, fasting insulin, triglycerides, HDL cholesterol and uric acid level. Data processed to obtain body mass index (BMI), homeostasis model assessment of insulin resistance (HOMA-IR) and HOMA-IR cut-off, which is determined based on 75 percentile. The criteria of hypertension, dyslipidemia, central obesity and hyperglycemia are based on Asian modification NCEP/ATP III criteria for metabolic syndrome. Hyperuricemia is diagnosed based on uric acid level >7mg/dl in men and >6 mg/dl in women. Results: the prevalence of insulin resistance among siblings of type 2 DM in this study is 26.67% with the proportion in each family varies from 0% to 75%. The most metabolic component found in this study is central obesity (56.7%), followed by hypertension (46.7%), decreased HDL cholesterol level (26.6%), hyper-triglyceridemia (26.6%) and hyperglycemia (20%). As many as three-quarters of subjects with insulin resistance have BMI >25 kg/m2. Among subjects with insulin resistance, all have central obesity, half of them have hypertension, decreased HDL cholesterol level and hyper-triglyceridemia. While hyperglycemia is found in 37.5% subjects. Conclusion: the prevalence of insulin resistance among siblings of type 2 DM in this study was 26.67% with the proportion in each family varies between 0-75%. Central obesity is the most metabolic component commonly found. 相似文献