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排序方式: 共有699条查询结果,搜索用时 164 毫秒
1.
2.
Three patients with paralysed horizontal gaze are presented. Involuntary use of convergence to assist horizontal gaze was noted as a late feature. All patients showed (1) unilateral or bilateral horizontal gaze palsy (two patients had one and a half syndrome, the other had bilateral nuclear sixth nerve palsies), (2) adduction of both eyes on attempted gaze into the paralysed field, (3) miosis which coincided with adduction. Convergence substitution should be considered in the differential diagnosis of gaze induced strabismus. 相似文献
3.
Sickle cell disease is a world-wide problem which has been noted to cause high tone sensorineural hearing loss. We report a case with sudden onset bilateral hearing loss which progressed to total sensorineural deafness. To our knowledge there has been no report of such a case occurring previously. 相似文献
4.
We describe a case of an infant with complete congenital absence of the extraocular muscles, noted at surgery and confirmed by multiplane MR, which found no evidence of extraocular muscle tissue. This almost certainly represents an extreme form of bilateral congenital fibrosis syndrome. 相似文献
5.
The radiologic manifestations of alveolar soft-part sarcoma 总被引:5,自引:0,他引:5
J G Lorigan F N O'Keeffe H L Evans S Wallace 《AJR. American journal of roentgenology》1989,153(2):335-339
Alveolar soft-part sarcoma is a rare soft-tissue tumor of unknown cellular origin that is characterized histologically by its organized "pseudoalveolar" pattern. The radiologic findings in 11 patients with this neoplasm were reviewed. The six men and five women were 16-48 years old (mean, 27 years). Nine patients had untreated primary tumors (thigh, four; forearm, two; and buttock, rectus abdominis muscle, and infratemporal fossa, one each) and two had locally recurrent masses (one each in the retroperitoneum and retrocrural space). All patients were evaluated by conventional radiography, two by sonography, eight by CT, five by angiography, and three by MR. Conventional radiographs showed the soft-tissue mass in only four patients; four lesions caused destruction of adjacent bone and two had soft-tissue calcification. Unenhanced CT showed low-attenuation lesions in four of five patients. The lesions were hypervascular on contrast-enhanced CT or angiography in each of nine patients studied. Prominent draining veins were shown by CT or angiography in five patients. Three lesions had a prolonged capillary stain on angiography. Alveolar soft-part sarcoma should be considered in the differential diagnosis of a hypervascular soft-tissue mass, particularly in the thigh of a young adult. 相似文献
6.
Baldwin T Henri S Curtis J O'Keeffe M Vremec D Shortman K Handman E 《Infection and immunity》2004,72(4):1991-2001
Using a metacyclic promastigote ear infection model of cutaneous leishmaniasis, we examined the phenotype, parasite load, and cytokine production of dendritic cells in the skin and draining lymph nodes of resistant C57BL/6J and susceptible BALB/c mice. Five dendritic cell populations were isolated from the skin and lymph nodes, and the main difference between the groups of mice was an increased number of plasmacytoid dendritic cells in the lymph nodes of the susceptible mice. Although similar cell types were present in the skin emigrants of both strains, there was a 10-fold larger number of cells in BALB/c mouse skin early in infection than in C57BL/6J mouse skin. None of the dendritic cells in the lymph nodes harbored parasites until 3 weeks after infection, with the Langerhans cells having the largest load and the plasmacytoid dendritic cells having the smallest load but the longest lasting infection. Although parasites could be detected in the lymph nodes a few hours after infection, none of the skin emigrants harbored parasites, indicating that they are not the vehicle that ferries the parasites from the skin to the lymph nodes. The presence of larger numbers of plasmacytoid cells in infected BALB/c mice, the more protracted infection of these cells, and their production of alpha interferon point to a complex and important role for the plasmacytoid cells in leishmaniasis. 相似文献
7.
Timothy W. Smith Jennifer L. O'Keeffe Kenneth D. Allred 《Journal of behavioral medicine》1989,12(1):1-11
The Framingham Type A Scale (FTAS) is one of three primary measures of Type A behavior. Unlike the structured interview (SI) and Jenkins Activity Survey (JAS), the FTAS is correlated with neuroticism. Further, neuroticism and FTAS scores predict angina-like chest pain complaints but not more definitive coronary heart disease (CHD) end points. Thus, the FTAS may be unique among Type A measures in its susceptibility to the neuroticism-symptom reporting confound. The present study examined associations of the SI, JAS, and FTAS with neuroticism and symptom reporting in two independent samples of undergraduate males. Unlike the SI and JAS, the FTAS was correlated with neuroticism and symptom reporting. Further, the correlations of FTAS scores and symptoms were due to shared variance with neuroticism. The findings are discussed in terms of a possible alternative interpretation of the Framingham Study and the need to consider neuroticism in studies of personality and health. 相似文献
8.
Yang GC; Croaker D; Zhang AL; Manglick P; Cartmill T; Cass D 《Human molecular genetics》1998,7(6):1047-1052
Lethal white foal syndrome (LWFS) is a congenital anomaly of horses
characterized by a white coat colour and aganglionosis of the bowel, which
is similar to Hirschsprung disease (HSCR). We decided to investigate
possible mutations of the endothelin-B receptor gene ( EDNRB ) in LWFS as
recent studies in mutant rodents and some patients have demonstrated EDNRB
defects. First, we identified a full-length cDNA for horse EDNRB . This
cDNA fragment contained a 1329 bp open reading frame which encoded 443
amino acid residues. The predicted amino acid sequence was 89, 91 and 85%
identical to human, bovine and mouse as well as rat EDNRB respectively, but
only 55% identical to the human, bovine and rat endothelin A receptor
(EDNRA). Secondly, sequence analysis, together with allele-specific PCR and
the amplification- created restriction site (ACRS) technique, revealed a
dinucleotide TC-- >AG mutation, which changed isoleucine to lysine in
the predicted first transmembrane domain of the EDNRB protein. This was
associated with LWFS when homozygous and with the overo phenotype when
heterozygous.
相似文献
9.
F Hecht A Grix B K Hecht C Berger H Bixenman S Szucs D O'Keeffe H J Finberg 《Cancer Genetics and Cytogenetics》1984,11(1):107-111
A fetal tumor was suspected at 31 weeks of gestation. The occurrence of polyhydramnios led to an ultrasound examination, which revealed deformation of the fetal head, face, eye, and neck. This was confirmed by computerized tomography. Amniocentesis yielded cells with an inverted duplication of chromosome #1. This abnormality of chromosome #1 marked the malignant teratoma cells in the amniotic fluid. Cytogenetic analysis of tumor tissue and of normal tissue obtained postnatally confirmed that the abnormality of chromosome #1 observed in amniotic fluid cells was confined to the tumor. The constitutional karyotype was normal. To our knowledge, this is the first report of the direct chromosomal detection of malignancy before birth. 相似文献
10.
Relationship between HLA-DRB1 and DQ alleles and the genetic susceptibility to type 1 diabetes 总被引:6,自引:0,他引:6
Objective To study the relationship between human leukocyte antigen (HLA)-DRB1 and DQ alleles and the genetic susceptibility of type 1 diabetes in North Chinese children. Methods Polymerase chain reaction (PCR) techniques were used to amplify the second exon of DRB1 and DQ alleles, after which sequence specific olignucleotide probe (SSOP) dot blot hybridization techniques were used to analyze the amplified products. Results DRB1*0301, DQA1*0301, DQB1*0201 alleles and DRB1*0301-DQA1*0501-DQB1*0201 haplotype were significantly increased in patients, while DQA1*0103 and DQB1*0601 alleles were significantly increased in controls. The distribution of DR4 and DR9 haplotypes in patients and controls were not significantly different, but DR3/DR4 and DR4/DR9 heterozygotes were significantly increased in patients. Conclusions DRB1*0301, DQA1*0301 and DQB1*0201 confer susceptibility while DQA1*0103 and DQB1*0601 confer protection to type 1 diabetes. DRB1*0301-DQA1*0501-DQB1*0201 haplotype offers a predisposition to type 1 diabetes in North Chinese. Although the distribution of DR4 and DR9 in patients and controls had no significant difference, DR3/DR4 and DR3/DR9 heterozygotes were significantly increased in patients, showing that the susceptive effects of DR3 and DR4 or DR4 and DR9 haplotypes could be added up. 相似文献