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1.
Previous reports in the literature have described correlation of increasing repeat length with severity of the phenotype, in Kennedy syndrome. We describe male siblings with different repeat lengths, with lack of expression of the phenotype in the sibling with the longer repeat length. The phenotype was identical to motor neurone disease. There is variability of expression in Kennedy syndrome and repeat length even in siblings cannot be taken as a conclusive indicator of severity. CAG repeat length cannot be used to predict the natural history of Kennedy disease. The diagnosis of Kennedy syndrome should be considered in male patients presenting with atypical motor neurone disease. 相似文献
2.
SB Grover N Midha M Gupta U Sharma VH Talib 《Journal of Medical Imaging and Radiation Oncology》2005,49(2):175-178
The clinical manifestations of chronic disseminated histoplasmosis are non-specific and resemble those of other chronic infections and malignancies. We report the radiographic, sonographic and contrast-enhanced CT appearances of histoplasmosis in an adult male with non-insulin dependent diabetes mellitus, who was HIV negative and presented with weight loss and pyrexia. Imaging studies simulated tuberculosis with mediastinal lymphadenopathy, bilateral fibrotic lung lesions, hepatomegaly and bilateral hypoattenuating adrenal enlargement, without clinical or laboratory evidence of hypoadrenalism. Computed tomography-guided fine-needle aspiration biopsy of adrenal glands revealed Histoplasma capsulatum. We report our experience to increase awareness of the imaging spectrum of disseminated histoplasmosis and its similarity to tuberculosis as, with increasing incidence of AIDS, the chances of these infections are likely to increase. Moreover, awareness of this entity is important because it is known that untreated disseminated histoplasmosis is fatal. 相似文献
3.
Factors associated with severe asthma 总被引:2,自引:0,他引:2
OBJECTIVE:To study the role of various factors associated with development and severity of bronchial asthma in children between 5-15 years of age. SETTING: Tertiary Care Medical College Hospital. METHODS: A case control study was carried out during May 96 to April 98. Sixty children each suffering from mild (chronic) and severe asthma (chronic) and 60 controls were enrolled to study the association of various risk factors with development of asthma and for severe disease. RESULTS: On univariate analysis factors associated with significant risk for development of asthma included family history of asthma (p = 0.003), lack of exclusive breastfeeding (p = 0.05), past history of bronchiolitis (p = 0.02), associated allergic rhinitis (p = 0.04) and atopic dermatitis (p = 0.01). For development of severe asthma, associated factors were early onset of symptoms (p = 0.01), family history of asthma in grandparents (p = 0.04) and more than 10 cigarettes per day smoked by any family member. No significant effect of air pollution, overcrowding, pets and passive smoking were found on either development of asthma or it's severity. On multivariate analysis only age of onset below 48 months was associated with severe asthma (OR 2.13, 95% CI 1.00-4.54). Exclusive breastfeeding for more than 4 months was the most protective factor for development of asthma (OR 0.25, 95% CI 0.08-0.70). A strong association between development of asthma and past history of bronchiolitis or tuberculosis (OR 5.26, 95% CI 1.7-16.20) and presence of associated atopic dermatitis or rhinitis (OR 7.5, 95% CI 1.64-34.48) was observed. CONCLUSION: History of associated allergic diseases and past history of bronchiolitis were significantly associated with development of asthma. Exclusive breastfeeding for first 4 months of life was protective. The most significant factor associated with severe asthma was onset of illness before 48 months of age. There was no significant effect of air pollution, over crowding, pets at home or passive smoking on severity of asthma 相似文献
4.
5.
Purification of Hageman factor (HF, factor XII) from human plasma is a tedious procedure and the product is not always in the precursor form. Hojima has described a protein derived from corn kernels that inhibits the enzymatic properties of HF. This inhibitor binds to the precursor form of HF. Rapid purification of HF was achieved by using as the major purification step adsorption of this clotting factor to popcorn inhibitor bound to agarose. The product had a specific activity of 50.0 to 67.1 coagulant units of HF per milligram protein, and the yield was 33% to 40% of the HF content of the starting plasma. The purified protein displayed a single band upon unreduced or reduced sodium dodecyl sulfate polyacrylamide gel electrophoresis and less than 0.1% was in an activated form, as measured in coagulant assays. The technique described is more rapid and reliable than methods described earlier. 相似文献
6.
7.
PS SUKTHANKAR HK PARIKH BN BORGHAIN VH DESHMANE RS RAO DM PARIKH 《Medical Journal Armed Forces India》1998,54(3):196-198
A retrospective analysis of 127 surgically treated cases of T-1, T-2 carcinoma of oral tongue during the period 1987-1990 was undertaken. 68.5 per cent (87) underwent hemiglossectomy and 31.5 per cent (40) underwent wide excision. There were loco-regional recurrences in 22 per cent (27). In the hemiglossectomy group 9 per cent (8 of 87) had local recurrences compared to 25 per cent (10 of 40) of wide excision group, (P = 0.01). Mean disease free survival was 40 months and 33 months for hemiglossectomy group and wide excision group respectively, (P = 0.006). It is seen that local recurrences are significantly less for the hemiglossectomy group compared to the wide excision group.KEY WORDS: Disease free survival, Early cancer, Recurrence, Surgery, Tongue 相似文献
8.
Objective To study the clinical manifestations and incidence of opportunistic infections in HIV/AIDS seropositive proven hospitalized
children.
Methods Proven HIV seropositive children aged between 18 months to 12 years, admitted between April 2004 to June 2005 (15months) to
pediatric medical ward, KIMS, Hubli, were enrolled. Socio-demographic characteristics and clinical manifestations were recorded
in the predesigned proforma. A complete physical examination and laboratory investigations were performed at the time of admission.
Children were categorized as per 1994 revised CDC classification of pediatric HIV infection.
Results Number of HIV seropositive children admitted during study period was 71. Vertical transmission was noted in 94.37%, which
is the major route of transmission. The common symptoms noted were persistent fever (70.42%), persistent cough (59.15%), loss
of appetite (59.15%), loss of weight (56.33%) and recurrent diarrhea (30.99%). The common signs present were, hepatomegaly
(69.04%), skin lesions (59.15%), lymphadenopathy (57.75%) and severe malnutrition (54.93%). The common opportunistic infections
observed were tuberculosis (38.03%), recurrent diarrhea (30.99%), oral candidiasis (21.13%) and recurrent bacterial pneumonia
(12.68%). Six (8.45%) children died during the study period, which included 4 (5.63%) cases of HIV-encephalopathy.
Conclusion Vertical transmission was the major route of HIV infection. Persistent fever, cough, loss of appetite and loss of weight were
common presenting clinical features. Tuberculosis was the commonest opportunistic infection. 相似文献
9.
用抗小鼠EGF抗血清作第一抗体,用ABC免疫组织化学方法对生后3、6、9、12、15、21d龄和成年BALB/c小鼠肾脏内EGF的定位进行了研究。实验表明,EGF样免疫反应均定位于远端小管,且多集中于上述部位细胞的顶部。新生幼鼠和3d龄鼠的肾脏切片上EGF样免疫反应为阴性。6d龄切片上EG免疫反应甚弱。随年龄增长,EGF样免疫反应亦增强。21d龄小鼠肾脏较其他年龄组和成年鼠有较强的免疫反应。本研究 相似文献
10.