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11.
Microdochectomy for single-duct discharge from the nipple 总被引:2,自引:0,他引:2
A P Locker M H Galea I O Ellis H W Holliday C W Elston R W Blamey 《The British journal of surgery》1988,75(7):700-701
Microdochectomy has been the accepted treatment for single-duct nipple discharge. Review of 97 consecutive patients undergoing microdochectomy between 1980 and 1987 revealed a total of eight patients with ductal carcinoma in situ. All of these had pre-operative mammography, results of which were highly suspicious of malignancy in six patients. Tiny foci of ductal carcinoma in situ were found in the two patients with normal mammograms. We suggest an expectant policy in cases where the mammogram is normal, omitting routine microdochectomy. 相似文献
12.
Nine young adults (median age 19.5 years) who suffered from amaurosis fugax (AF) are described. The attacks of AF were short in duration and preceded by premonitory symptoms in five cases and by a migrainous headache in two. In five patients the visual loss progressed in a lacunar pattern unlike the 'curtain' pattern characteristic of AF in older patients. Investigation revealed no evidence of an embolic or atheromatous aetiology. In two cases a minor abnormality was found on echocardiography. We conclude that AF in young adults has a different clinical pattern and may have a different aetiology, possibly migrainous, compared with that seen in older patients. The pattern of visual loss in some of the cases suggests that the choroidal circulation rather than the retinal circulation is primarily affected. 相似文献
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Using a two‐stage global scan design, we analyzed general population replicates 1 and 42 of the Genetic Analysis Workshop (GAW) 12 simulated data set using three methods: revisited Haseman‐Elston (HER), maximum likelihood variance estimation (ML), and variance components (VC). Three marker densities, 5‐, 10‐, and 15‐cM intervals, were examined in the first‐stage scan. We found that the 10‐cM interval appears to be the most cost‐effective approach in genotyping without sacrificing power when using a first stage significance level of 0.01. Subsequently, we performed the second‐stage scan at 1‐cM intervals for those putative positive regions identified in the first‐stage scan at a significance level of 0.01. We also compared the power to detect linkage using different numbers of sib pairs for a genome‐wide scan at a 10‐cM interval and found that power decreases nonlinearly as the number of sib pairs decreases. © 2001 Wiley‐Liss, Inc. 相似文献
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HLA-DR, DQ genotypes of celiac disease patients and healthy subjects from the West of Ireland 总被引:2,自引:0,他引:2
J. P. Michalski C. C. McCombs T. Arai R. C. Elston T. Cao C. F. McCarthy F. M. Stevens 《Tissue antigens》1996,47(2):127-133
Celiac disease (CD) has one of the strongest class II HLA associations of any human illness. We used DNA-RFLP typing to study the class II HLA genotypes of celiac disease patients from the West of Ireland, the geographic area with the highest rate of celiac disease in the world. We confirmed the high frequency of HLA-DR3 in this population, and we were also able to demonstrate the additional risk of developing celiac disease imparted by HLA-DR7. This was done by clearly distinguishing DR7, DQ2 haplotypes from DR7, DQ9 haplotypes, and by "subtraction analysis" of haplotype frequencies. As reported in other populations, most of the patients without DR3 were heterozygous for DR7 and DR11 or 12 (DR5), or had DR4. We used PCR-RFLP and direct sequencing of amplified DNA to examine HLA-DR4 subtypes. The frequency of HLA-DR4 was markedly decreased in patients compared with controls (p=0.000001) and there was a significant alteration of DR4 subtypes of the patients compared with controls (p=0.0227). Moreover, all of the CD patients (5 of 5) with DR4 had a haplotype associated with the DQB1*0302 allele compared with only 11 of 23 control subjects with DR4. Our results in this population with exceptionally high risk of CD strongly support the DQ heterodimer hypothesis and suggest that the recently described sequence difference between the DQB1*02 alleles of DR3 and DR7 may contribute to a synergistic increased risk when these haplotypes are inherited together. In addition, our findings suggest a role for HLA-DQ in DR4-associated CD. 相似文献
18.
Edward?J?HolloxEmail author Jane?Davies Uta?Griesenbach Juliana?Burgess Eric?WFW?Alton John?AL?Armour 《Journal of negative results in biomedicine》2005,4(1):9
Human beta-defensin 2 (DEFB4, also known as DEFB2 or hBD-2) is a salt-sensitive antimicrobial protein that is expressed in
lung epithelia. Previous work has shown that it is encoded in a cluster of beta-defensin genes at 8p23.1, which varies in
copy number between 2 and 12 in different individuals. We determined the copy number of this locus in 355 patients with cystic
fibrosis (CF), and tested for correlation between beta-defensin cluster genomic copy number and lung disease associated with
CF. No significant association was found. 相似文献
19.
Relationship between adherence to inhaled corticosteroids and poor outcomes among adults with asthma
Williams LK Pladevall M Xi H Peterson EL Joseph C Lafata JE Ownby DR Johnson CC 《The Journal of allergy and clinical immunology》2004,114(6):283-1293
BACKGROUND: Regular use of inhaled corticosteroids (ICSs) can improve asthma symptoms and prevent exacerbations. However, overall adherence is poor among patients with asthma. Objective To estimate the proportion of poor asthma-related outcomes attributable to ICS nonadherence. METHODS: We retrospectively identified 405 adults age 18 to 50 years who had asthma and were members of a large health maintenance organization in southeast Michigan between January 1, 1999, and December 31, 2001. Adherence indices were calculated by using medical records and pharmacy claims. The main outcomes were the number of asthma-related outpatient visits, emergency department visits, and hospitalizations, as well as the frequency of oral steroid use. RESULTS: Overall adherence to ICS was approximately 50%. Adherence to ICS was significantly and negatively correlated with the number of emergency department visits (correlation coefficient [ R ] = -0.159), the number of fills of an oral steroid ( R = -0.179), and the total days' supply of oral steroid ( R = -0.154). After adjusting for potential confounders, including the prescribed amount of ICS, each 25% increase in the proportion of time without ICS medication resulted in a doubling of the rate of asthma-related hospitalization (relative rate, 2.01; 95% CI, 1.06-3.79). During the study period, there were 80 asthma-related hospitalizations; an estimated 32 hospitalizations would have occurred were there no gaps in medication use (60% reduction). CONCLUSIONS: Adherence to ICS is poor among adult patients with asthma and is correlated with several poor asthma-related outcomes. Less than perfect adherence to ICS appears to account for the majority of asthma-related hospitalizations. 相似文献
20.
Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1) 总被引:10,自引:1,他引:10
Rousseau F; el Ghouzzi V; Delezoide AL; Legeai-Mallet L; Le Merrer M; Munnich A; Bonaventure J 《Human molecular genetics》1996,5(4):509-512
Thanatophoric dwarfism (TD) is a sporadic lethal skeletal dysplasia with
micromelic shortening of the limbs, macrocephaly, platyspondyly and reduced
thoracic cavity. In the most common subtype (TD1), femurs are curved, while
in TD2, straight femurs are associated with cloverleaf skull. Mutations in
the fibroblast growth factor receptor 3 (FGFR3) gene were identified in
both subtypes. While TD2 was accounted for by a single recurrent mutation
in the tyrosine kinase 2 domain, TD1 resulted from either stop codon
mutations or missense mutations in the extracellular domain of the gene.
Here, we report the identification of FGFR3 mutations in 25/26 TD cases.
Two novel missense mutations (Y373C and G370C) were detected in 8/26 and
1/26 TD1 cases respectively. Both mutations created cysteine residues in
the juxta extramembrane domain of the receptor. Sixteen cases carried the
previously reported R248C (9/26 cases), S249C (2/26 cases) or stop codon
FGFR3 mutations (5/26 cases). Our results suggest that TD1 is a genetically
homogeneous condition and give additional support to the view that newly
created cysteine residues in the extracellular domain of the protein play a
key role in the severity of the disease.
相似文献