Introduction: Amyloidosis are systemic conditions and carpal tunnel syndrome (CTS) precedes the principal systemic complications and can be used as an early marker. Our objective was to determine the frequency of amyl...Introduction: Amyloidosis are systemic conditions and carpal tunnel syndrome (CTS) precedes the principal systemic complications and can be used as an early marker. Our objective was to determine the frequency of amyloid deposition in idiopathic CTS and its systemic impact. Methods: We retrospectively evaluated patients with CTS between September 2019 to January 2020. Samples from the anterior carpal ligament were pathologically evaluated and amyloid deposition was confirmed by apple-green birefringence on polarized light using Congo red stain. When amyloid was detected we performed genetic testing for transthyretin variants (ATTRv), immunofixation electrophoresis in serum and urine for light chains and multidisciplinary evaluation. Results: Thirty consecutive patients were included, 19 women, 11 men, mean age 70 years old (range 42 - 89 years). We identified 3 patients (10%) with amyloid deposits (mean age: 78.6 years, 2 men, 1 woman). Genetic testing for ATTRv and light chains studies were negative. During follow-up: The first patient required aortic valve replacement. The second patient developed progressive cardiac failure with syncopal episodes, atrioventricular block and atrial fibrillation and required a pacemaker and anticoagulation. The third patient had unexplained chronic edemas. The cardiac evaluation in all 3 patients revealed left ventricular hypertrophy and myocardial uptake (Perugini Score > 2) in their nuclear bone scintigraphies with technetium pyrophosphate. Two patients were treated with tafamidis and one patient died due to refractory cardiac insufficiency. Discussion: Our findings underline the importance of investigating amyloidosis in idiopathic CTS. The identification of deposits allows early diagnosis of cardiac amyloidosis leading to timely intervention and treatment.展开更多
The human papillomavirus (HPV) is the etiologic agent of genital cancer, but alone it is incapable of inducing oncogenesis. Rather, progression to invasive lesions is associated with host immunity and interference in ...The human papillomavirus (HPV) is the etiologic agent of genital cancer, but alone it is incapable of inducing oncogenesis. Rather, progression to invasive lesions is associated with host immunity and interference in the process of cellular apoptosis. Among the several genes involved in cell death, theFAS gene appears to be an important factor. The aim of this study was to evaluate whether there is an association between polymorphisms of the FAS-670 gene promoter region and preinvasive and invasive lesions of the cervix. The FAS gene was evaluated for the presence of polymorphisms using polymerase chain reaction and restriction fragment length polymorphism techniques in 225 blood samples for the control group, as well as cervical tissue from patients with cervical intraepithelial neoplasia grade 3 (CIN 3;75 cases) or invasive carcinoma (214 cases). The AG genotype of the FAS-670 gene promoter region was significantly more frequent in women with CIN 3, with an estimated risk of three times (OR = 3.0). No difference, however, was observed in the control group and women with cervical cancer. In women with cancer, the genotypes were similar in the different histological types and degree of tumor differentiation. Assessing allelic distribution (A or G), we observed no difference in frequency of genotypes in studied groups. These data suggest that polymorphism of the promoter region of the FAS-670 gene is associated with increased risk of CIN 3, but not for invasive cancer of the cervix.展开更多
文摘Introduction: Amyloidosis are systemic conditions and carpal tunnel syndrome (CTS) precedes the principal systemic complications and can be used as an early marker. Our objective was to determine the frequency of amyloid deposition in idiopathic CTS and its systemic impact. Methods: We retrospectively evaluated patients with CTS between September 2019 to January 2020. Samples from the anterior carpal ligament were pathologically evaluated and amyloid deposition was confirmed by apple-green birefringence on polarized light using Congo red stain. When amyloid was detected we performed genetic testing for transthyretin variants (ATTRv), immunofixation electrophoresis in serum and urine for light chains and multidisciplinary evaluation. Results: Thirty consecutive patients were included, 19 women, 11 men, mean age 70 years old (range 42 - 89 years). We identified 3 patients (10%) with amyloid deposits (mean age: 78.6 years, 2 men, 1 woman). Genetic testing for ATTRv and light chains studies were negative. During follow-up: The first patient required aortic valve replacement. The second patient developed progressive cardiac failure with syncopal episodes, atrioventricular block and atrial fibrillation and required a pacemaker and anticoagulation. The third patient had unexplained chronic edemas. The cardiac evaluation in all 3 patients revealed left ventricular hypertrophy and myocardial uptake (Perugini Score > 2) in their nuclear bone scintigraphies with technetium pyrophosphate. Two patients were treated with tafamidis and one patient died due to refractory cardiac insufficiency. Discussion: Our findings underline the importance of investigating amyloidosis in idiopathic CTS. The identification of deposits allows early diagnosis of cardiac amyloidosis leading to timely intervention and treatment.
文摘The human papillomavirus (HPV) is the etiologic agent of genital cancer, but alone it is incapable of inducing oncogenesis. Rather, progression to invasive lesions is associated with host immunity and interference in the process of cellular apoptosis. Among the several genes involved in cell death, theFAS gene appears to be an important factor. The aim of this study was to evaluate whether there is an association between polymorphisms of the FAS-670 gene promoter region and preinvasive and invasive lesions of the cervix. The FAS gene was evaluated for the presence of polymorphisms using polymerase chain reaction and restriction fragment length polymorphism techniques in 225 blood samples for the control group, as well as cervical tissue from patients with cervical intraepithelial neoplasia grade 3 (CIN 3;75 cases) or invasive carcinoma (214 cases). The AG genotype of the FAS-670 gene promoter region was significantly more frequent in women with CIN 3, with an estimated risk of three times (OR = 3.0). No difference, however, was observed in the control group and women with cervical cancer. In women with cancer, the genotypes were similar in the different histological types and degree of tumor differentiation. Assessing allelic distribution (A or G), we observed no difference in frequency of genotypes in studied groups. These data suggest that polymorphism of the promoter region of the FAS-670 gene is associated with increased risk of CIN 3, but not for invasive cancer of the cervix.
