Activating mutations of BRAF have been identified in a variety of human cancers, most notably melanomas and papillary thyroid carcinomas (PTCs). The aim of the present study was to disclose the role of BRAF mutations in thyroid carcinoma development.Seventy-two thyroid tumors, including 60 PTCs, six follicular adenomas, five follicular carcinomas, and one anaplastic carcinoma, were studied. BRAF mutation screening focused on exon 15 and exon 11 of the gene by single-stranded conformational polymorphism and sequence analysis. Search of RET/PTC expression was conducted with the RT-PCR technique.The molecular genetic study of the BRAF gene showed the presence of a missense thymine to adenine transversion at nucleotide 1796, resulting in the V599E substitution, in 24 of 60 PTCs (40%), none of six follicular adenomas, and none of five follicular carcinomas or one anaplastic carcinoma. Moreover, nine of 60 PTCs (15%) presented RET/PTC expression. A genetico-clinical association analysis showed a statistically significant correlation between BRAF mutation and development of PTCs of the classic papillary histotype (P ؍ 0.038). On the contrary, no link could be detected between expression of BRAF V599E and age at diagnosis, gender, dimension, and local invasiveness of the primary cancer, presence of lymph node metastases, tumor stage, and multifocality of the disease.These data clearly confirm that BRAF V599E is the more common genetic alteration found to date in adult sporadic PTCs, that it is unique for this thyroid cancer histotype, and that it might drive the development of PTCs of the classic papillary subtype. (J Clin Endocrinol Metab 89: 2414 -2420, 2004)
Objective: RET proto-oncogene rearrangements (ret/PTCs) represent the most common genetic alterations found in papillary thyroid carcinomas (PTCs). Correlation of ret/PTC expression with clinical outcome is controversial. The aim of the present study was to analyze the frequency of RET rearrangements in adult PTCs, and to investigate if ret/PTCs influence biological behavior and clinical features of the cancers. Design: Ret/PTC rearrangements were looked for in tissue samples of 48 PTCs collected at our institution. Data about clinical and pathological features of the tumors were also reviewed. Three separate association analyses were carried out on the cohort evaluating the effects of, respectively, ret/PTC positivity, preferential RET tyrosine kinase domain (RET-TK) expression, and ret/PTC plus RET-TK positivity, on age, sex, tumor size, staging, number of neoplastic foci, and histological subtype. Methods: The genetic study was conducted with the RT-PCR -Southern blot technique. Standard Student's t-test and Fisher exact test were applied for the association analyses. Results: The molecular genetic study demonstrated the positivity of ret/PTC1 and ret/PTC3 in 13 of 48 tumors (27.1%), and an exclusive or preferential RET-TK expression in 17 cases (35.4%). None of the three genetico-clinical analyses showed any significant association between ret/PTC expression and the clinical and pathological features of the cancers. Conclusions: These data indicate that RET rearrangements may not play any distinctive role in driving histotype development and cancer progression in these neoplasms. Moreover, they weaken the possibility of using ret/PTC as a prognostic marker for papillary thyroid carcinomas.
Background:The handgrip strength test is widely used by clinicians; however, little has been investigated about its reliability when used in subjects with Parkinson disease (PD). The purpose of this study was to investigate the test-retest reliability of the handgrip strength test for subjects with PD. Methods: The PD group consisted of 15 patients, and the control group consisted of 15 healthy subjects. Each patient performed 3 pain-free maximal isometric contractions on each hand on 2 occasions, 1 week apart. Intraclass correlation coefficient (ICC), standard error of measurement (SEM), and 95% limits of agreement (LOA) were calculated. The 2-way analysis of variance (ANOVA) was conducted to determine the differences between sides and groups. Results: Test-retest reliability of measurements of grip strength was excellent for dominant (ICC = 0.97; P = .001) and non-dominant (ICC = 0.98; P = .001) hand of participant with PD and (ICC = 0.99; P = .001) and (ICC = 0.99; P = .001) respectively, of healthy group. Conclusions: The Jamar hand dynamometer had fair to excellent test-retest reliability to test grip strength in participants with PD.
Introduction In people with haemophilia (PWH) with severe arthropathy, total joint replacement (TJR) can be undertaken if conservative management fails. Post‐operative rehabilitation treatment is an important part of the comprehensive management of patients undergoing TJR. Aim To compare post‐operative standard rehabilitation (SR) and SR plus water rehabilitation (WR) in PWH undergoing TJR. Methods PWH who were admitted to our centre between June 2003 and December 2016 for rehabilitation after TJR were included in the study. Rehabilitation included SR (ie, manual and mechanical mobilization, scar tissue massage, light muscle strengthening exercises and walking training with and without crutches) with or without WR. WR exercises with floats of different size and volume were performed when possible. Range of motion (ROM), muscle strength, pain level, perceived health status and length of hospital stay were analysed retrospectively. Results A total of 184 patients (233 rehabilitation programmes were enrolled in the study, corresponding to 160 after total knee replacement [TKR], 37 after total ankle replacement [TAR] and 36 after total hip replacement [THR]). Fifty‐eight (25%) patients were treated with WR in addition to SR (32 for TKR, 19 for TAR and 7 for THR) with an average of 5.7 hours of WR. Muscle strength, pain and perceived health status improved significantly after rehabilitation. Conclusion This non‐randomized study seems to indicate that WR plus SR improves muscle strength, pain and perceived health status more than SR alone in PWH undergoing TJR. It would be necessary, however, to carry out randomized comparative studies to confirm these provisional conclusions.
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