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排序方式: 共有757条查询结果,搜索用时 31 毫秒
1.
Flavia M. N. P. Aslanian Maria Teresa Q. Marques Haroldo J. Matos Luciane F. S. Pontes Luis Cristvo S. Porto Lucia M. S. Azevedo Absalom L. Filgueira 《Journal der Deutschen Dermatologischen Gesellschaft》2006,4(10):842-847
Background: Lichen sclerosus (LS) has been identified with increased frequency in families,often associated with HLA markers, mainly DQ7. A genetic co‐etiology seems likely in this setting. Moreover, there is an association of LS with autoimmune disorders, such as the presence of anti‐thyroid peroxidase autoantibodies (anti‐TPO), a hallmark of autoimmune thyroid diseases. Patients and Methods: In 3 families affected by LS, we verified their HLA markers, and identified previously undiagnosed cases of LS and autoimmune disorders. 30 individuals were examined with history, skin biopsy, HLA class I and II typing by PCR‐SSP, and measurement of anti‐TPO, free thyroxine and thyroidstimulating hormones (TSH) levels. Results: There were 8 cases of LS, 50 % of them anti‐TPO+. Autoimmune disorders were found in 40 % (total) and in 87.5 % of those affected. Most common HLA markers were B*15, B*57, CW*03, CW*07, CW*18, DRB1*04, DRB1*07, DRB4*. The three latter have been previously associated with LS. Conclusion: New cases of LS and autoimmune disorders can be detected in first degree relatives of patients with LS. The presence of anti‐TPO antibodies strongly suggests autoimmune thyroiditis. There is intra‐familial association between the haplotype HLA‐B*15 ‐DRB1*04 ‐DRB4* and anti‐TPO,emphasizing their link with thyroiditis. New familial approaches might help to make clear the pathogenesis of LS and its association with autoimmune diseases. 相似文献
2.
Hardwick M Cavalli LR Barlow KD Haddad BR Papadopoulos V 《Cancer Genetics and Cytogenetics》2002,139(1):48-51
Recent studies using human breast cancer cell lines, animal models, and human tissue biopsies have suggested a close correlation between the expression of the peripheral-type benzodiazepine receptor (PBR) and the progression of breast cancer. This study investigates the genetic status of the PBR gene in two human breast cancer cell lines: MDA-MB-231 cells, which are an aggressive breast cancer cell line that contains high levels of PBR, and MCF-7 cells, which are a nonaggressive cell line that contains low levels of PBR. Both DNA (Southern) blot and fluorescence in situ hybridization analyses indicate that the PBR gene is amplified in MDA-MB-231 relative to MCF-7 cells. These data suggest that PBR gene amplification may be an important indicator of breast cancer progression. 相似文献
3.
Cavalli LR Singh B Isaacs C Dickson RB Haddad BR 《Cancer Genetics and Cytogenetics》2004,149(1):38-43
Loss of heterozygosity (LOH) of the wild-type BRCA1/2 allele is a reproducible event in breast tumors of BRCA1/2 mutation carriers, but it is unknown if this allelic loss occurs only in association with recognizable histopathologic abnormalities. We evaluated the early genomic changes that occur in the mammary glands of patients with increased predisposition to breast cancer due to germline mutations in the BRCA1/2 genes. We tested the hypothesis that these genomic changes may be detected, not only in histologically abnormal and malignant breast tissues, but also in morphologically normal tissues and in areas with pathologically benign changes. Samples were obtained from five breast cancer patients: four BRCA1 carriers and one BRCA2 carrier. In each case, nontumor tissue areas surrounding the tumor or from other locations of the breast were isolated using laser capture microdissection. We evaluated 29 areas showing normal terminal ductal lobular units (TDLUs) or histopathologically benign changes (in particular, sclerosing adenosis), using a panel of polymorphic dinucleotide microsatellite markers for the BRCA1 gene and other chromosome 17 loci, for the BRCA2 gene and other chromosome 13 loci, and for the FHIT gene on 3p14.2. Overall, we analyzed a total of 105 samples of nontumor tissues; LOH was detected in 59 of the 105 (56%). In the normal TDLUs, 15 of 30 samples (50%) showed LOH; in the tissues with benign proliferative changes, such as sclerosing adenosis, 44 of 75 samples showed LOH (59%). Our results suggest that there is a field effect of early genetic events preceding morphologic changes in the mammary glands of BRCA mutation carriers. 相似文献
4.
Matte U Yogalingam G Brooks D Leistner S Schwartz I Lima L Norato DY Brum JM Beesley C Winchester B Giugliani R Hopwood JJ 《Molecular genetics and metabolism》2003,78(1):37-43
In this study we have investigated a group of 29 Brazilian patients, who had been diagnosed with the lysosomal storage disorder, Mucopolysaccharidosis type I (MPS-I). MPS I is caused by a deficiency in the lysosomal hydrolase, alpha-L-iduronidase. Ninety percent of the MPS I patients in this study were genotyped and revealed 10 recurrent and thirteen novel IDUA gene mutations. Eight of these new mutations and three common mutations W402X, P533R, and R383H were individually expressed in CHO-K1 cells and analyzed for alpha-L-iduronidase protein and enzyme activity. A correlation was observed between the MPS I patient clinical phenotype and the associated mutant alpha-L-iduronidase protein/enzyme activity expressed in CHO-K1 cells. This was the first time that Brazilian MPS I patients had been thoroughly analyzed and highlighted the difficulties of mutation screening and clinical phenotype assessment in populations with high numbers of unique mutations. 相似文献
5.
Barroso Rosmeire Aparecida Navarro Ricardo Tim Carla Roberta de Paula Ramos Lucas de Oliveira Luciane Dias Araki Ângela Toshie Fernandes Karina Gonzales Camara Macedo Daniela Assis Lívia 《Lasers in medical science》2021,36(6):1235-1240
Lasers in Medical Science - Acne vulgaris is the most recurring skin condition in the world, causing great harm to the physical and psychological well-being of many patients. Antimicrobial... 相似文献
6.
7.
Zancanella Edilson do Prado Lucila Fernandes de Carvalho Luciane Bizari Machado Júnior Almiro J. Crespo Agrício Nubiato do Prado Gilmar Fernandes 《Sleep & breathing》2022,26(1):117-123
Sleep and Breathing - There are no studies comparing tests performed at home with those carried out in the laboratory, using the same device. The only studies that have been performed... 相似文献
8.
Rosalía Laporta Hernández M. Teresa Lázaro CarrascoAndrés Varela de Ugarte Piedad Ussetti Gil 《Archivos de bronconeumología》2014
Since the outcomes of lung transplants are still poorer than those obtained with others, such as heart, kidney or liver transplants, the challenge for medicine remains focused on prolonging functional graft survival. The procedure triggers significant post-surgical physiopathological changes in the lung parenchyma, the rib cage, the airways and pulmonary circulation. The patient is exposed to risks that must be identified and controlled, such as complications fully or partially attributable to immunosuppressive treatment, including cardiovascular disease, tumors and infections and, of course, chronic graft dysfunction. 相似文献
9.
10.
Valdeci Carlos Dionisio Cyntia Rogean de Jesus Alves de Baptista Adriana de Sales Rodrigues Luciane Aparecida Pascucci Sande de Souza 《Journal of Manual and Manipulative Therapy》2018,26(4):212-217
Objective: The study aim was to evaluate the immediate effect of rhythmic stabilization on local and distant muscles involved in a functional reach. Method: Prospective, observational cross-sectional study. Eight right-handed and non-impaired individuals (4 females and 4 males) aged 18–24 years (21.5 ± 1.58 years) were evaluated. Bilateral electromyographic recording of the biceps brachii, triceps brachii, multifidus lumbar, and rectus abdominis muscles was performed during three different tasks. Task 1 involved functional reach, while Task 2 involved rhythmic stabilization followed by a functional reach. Task 3 was similar to Task 2, but with 3 repetitions before a functional reach. Results: The results showed no difference between the tasks or sides. However, an interaction was observed between each side and muscles, with greater activation of the right multifidus lumbar muscle. Conclusion: Rhythmic stabilization during the task of reaching promotes an increase of multifidus activity ipsilateral to its application. Thus, this particular technique of proprioceptive neuromuscular facilitation can be useful for improving stability of the trunk and can be used in clinical practice for this purpose. Level of Evidence: 5. 相似文献