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51.
To evaluate the efficacy and safety of supratarsal injection of triamcinolone acetonide in the treatment of refractory allergic keratoconjunctivitis in childhood. Thirty-five patients (70 eyes) with severe allergic keratoconjunctivitis were included in this study. Fifteen patients (42.8%) had atopic keratoconjunctivitis (AKC) and 20 (57.2%) had vernal keratoconjuncivitis (VKC). All patients underwent a bilateral supratarsal injection of 20 mg triamcinolone acetonide. Mean follow-up was 28 months (range 14–38). All patients showed a significant symptomatic improvement and partial resolution of clinical features of keratoconjunctivitis within the first 2 weeks. Corneal complications related to keratoconjunctivitis disappeared in all patients. One patient with VKC experienced ocular hypertension. No patient with AKC showed side-effects. Severe relapse of the disease was noted in 10% of eyes with VKC and in 6.7% of eyes with AKC after a mean follow-up of 9 and 11 months, respectively. Supratarsal injection of triamcinolone acetonide is effective and safe in patients with severe chronic allergic keratoconjunctivits to relieve severe inflammation associated with this disease.  相似文献   
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BackgroundImmune checkpoint inhibitors (ICIs) are available for first- and further lines of treatment of patients with advanced non–small-cell lung cancer (NSCLC). These treatments are associated with adverse events called immune-related adverse events (IRAEs). The incidence, diagnosis, and treatment of IRAEs are quite acknowledged; however, the link between IRAEs and the efficacy of ICIs requires further clarification. The objectives of this study were to assess the association between IRAEs incidence and severity and ICIs efficacy in patients with advanced NSCLC.MethodsIn this retrospective study, clinical, biological, treatment, and outcome data were collected from patients with advanced NSCLC who received at least 1 cycle of ICIs from April 2013 to February 2017. The primary endpoint was to assess the association of IRAEs incidence with overall survival (OS). Secondary endpoints were the association of IRAEs with progression-free survival (PFS), objective response rate (ORR), and disease control rate (DCR).ResultsOverall, 270 patients were studied. The median OS was 14 months, median PFS was 2.6 months, ORR was 13%, and DCR was 51%. OS, PFS, and ORR were significantly better for patients with IRAEs compared with patients with no IRAEs, translating to median OS not reached versus 8.21 months, respectively (hazard ratio, 0.29; 95% confidence interval [CI], 0.18-0.46; P < .001); PFS was 5.2 versus 1.97 months (hazard ratio, 0.42; 95% CI, 0.32-0.57; P < .001); and ORR was 212.9% versus 5.7% (odds ratio, 4.9; 95% CI, 2.18-11.05; P < .001).ConclusionsThis report presents the largest case series showing longer OS and PFS and better ORR when IRAEs occurred in a population of patients with advanced NSCLC treated with ICIs. The biological background for this phenomenon is being explored prospectively.  相似文献   
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Renal tubular dysgenesis (RTD) is a rare and severe nephropathy characterized by persistent fetal anuria leading to oligohydramnios with the Potter sequence, and perinatal death. The diagnosis is based on the histological finding of absence or paucity of proximal tubules. A consanguineous family is described in which 2 siblings, born after pregnancies complicated by oligohydramnios were affected with RTD. Patients were small for gestational age at birth. The first patient died after a few hours, the second after a few days of life, with persistent anuria unresponsive to treatment. Histologically, there was marked reduction in the number of proximal tubule sections and no renin was detected by immunohistochemistry. An homozygous mutation of the gene encoding renin was identified in both patients. This study underlines the interest of the histological examination of the kidney for the diagnostic of RTD in anuric fetuses and newborns, and the possibility of mutation analysis of RAS genes for genetic counselling and early prenatal diagnosis.  相似文献   
55.

Purpose

This review provides an update on the genetics of male infertility with emphasis on the current state of research, the genetic disorders that can lead to non-syndromic male infertility, and the genetic tests available for patients.

Methods

A comprehensive review of the scientific literature referenced in PubMed was conducted using keywords related to male infertility and genetics. The search included articles with English abstracts appearing online after 2000.

Results

Mutations in 31 distinct genes have been identified as a cause of non-syndromic human male infertility, and the number is increasing constantly. Screening gene panels by high-throughput sequencing can be offered to patients in order to identify genes involved in various forms of human non-syndromic infertility. We propose a workflow for genetic tests which takes into account semen alterations.

Conclusions

The identification and characterization of the genetic basis of male infertility have broad implications not only for understanding the cause of infertility but also in determining the prognosis, selection of treatment options, and management of couples. Genetic diagnosis is essential for the success of ART techniques and for preserving future fertility as well as the prognosis for testicular sperm extraction (TESE) and adopted therapeutics.
  相似文献   
56.
PURPOSE: Analysis of the epidemiological, clinical and therapeutic characteristics of retinal detachment after ocular blunt trauma. MATERIAL AND METHODS: We retrospectively reviewed 48 patients with isolated retinal detachment after ocular blunt trauma, studying their epidemiological characteristics (age, sex and trauma circumstances), their clinic details and the surgical techniques used. RESULTS: The average age of our patients was 39.3 Years; most were male (75%). Assault and home accidents were the most common cause of ocular trauma (83.2%). Total retinal detachment was noted in 47.9%. Of the retinal breaks found, dialysis at the ora serrata was observed in 22%, atrophic holes in 33.9%, retinal breaks in 40.6% and giant tears in 4.2%. Most of the breaks were situated at the lower temporal quadrant. Forty one out of the 48 patients were operated on, with surgical treatment consisting in episcleral surgery in 38 cases and vitreoretinal surgery in three cases. Complete anatomical success was achieved in 92.7%. CONCLUSION: This survey shows that the prognosis of retinal detachment after ocular blunt trauma remains favorable given the young age and the absence of advanced vitreoretinal proliferation, but this should not affect the importance of prevention.  相似文献   
57.
BACKGROUND: The non-Hodgkin's lymphomas are a group of neoplasms characterized by proliferation of malignant lymphocytes. There is a wide variety of presenting signs and symptoms depending on the site of involvement and aggressiveness of the disease. Many organs in the body may be affected. Ocular and orbital localisations are rare, usually discovered in the older people and are exceptional in childhood. CASE REPORT: A 9-year old girl consulted for exophthalmia of the left eye without neither inflammation nor visual function alteration. The magnetic resonance imaging revealed a voluminous orbital tumour, probably a rhabdomyosarcoma. Two biopsies were done on the tumour without conclusion. The biopsy done on a frontal metastasis affirmed the diagnosis of non-Hodgkin's lymphoma. Chemotherapy led to tumour regression and involution of the exophthalmia. The aim of this study is to evaluate the clinical features and treatment of child orbital lymphoma.  相似文献   
58.
Hydatidosis is an anthropozoonosis mainly encountered in pastoral areas. It mostly affects the liver, lung, and rarely the bone and the soft tissues. Skeletal involvement is usually secondary to visceral hydatidosis. We report a case of a 49‐year‐old man presenting with one‐year history of a progressive left hip pain. On local examination, there was tenderness in the left gluteal region with reduction in the hip range of motion. Pelvic X‐ray revealed an expansive bone destruction involving the left hemi pelvis without periosteal reaction. A magnetic resonance imaging showed multiple cystic lesions extending from pelvic bones to the gluteal region. The possibility of hydatid disease was raised, and hydatid serology test was positive. No visceral involvement was found by additional examinations investigations revealed visceral hydatidosis. Thus, the diagnosis of a primary bone hydatid disease was established. No surgical excision was possible, and the patient was put on Albendazole. Echinococcosis should be ruled out while dealing with progressive expansive bony lesions. Surgical management remains a challenge especially if the involvement is very extensive.  相似文献   
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60.
This cross-sectional study aimed to assess pertussis seroprevalence among healthy healthcare workers (HCW) of the Children’s Hospital of Tunis, Tunisia. During the study period, 236 blood samples were obtained to determine HCW exposure to pertussis. Concentrations of immunoglobulin G (IgG) to pertussis toxin (PT) were measured using a commercial enzyme-linked immunosorbent assay. Cut-offs values used were 40 and 100?IU/ml, respectively indicative of an infection within the last year and a current/recent infection. Overall, seropositivity rate was 11.4% (95% CI 7.4–15.5) and 2.5% (95% CI 0.5–4.6) of ELISA results were indicative of a current infection. Seroprevalence was significantly most important in nurses (p?=?0.03) and in participants aged 21–31y (p?=?0.009). Our study confirmed that pertussis is circulating in hospital settings and affecting Tunisian HCW, in close contact with infants. Therefore, a booster dose of acellular pertussis vaccine needs to be considered.  相似文献   
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