O objetivo deste estudo foi investigar os efeitos do hipotiroidismo experimental sobre o leito vascular da aorta torácica. Para a análise histológica foram realizadas colorações de hematoxilina-eosina, picrosirius e Weigert. Na análise de expressão proteica, foram realizadas as quantificações para colágeno I e III, elastina, MMP-9 e MMP-2, TIMP-1 e TIMP-2. As análises histológicas demonstraram uma diminuição da AST das aortas dos animais hipo e juntamente a esta alteração, foi constatada a diminuição da expressão proteica de colágeno do tipo I. Em relação à elastina, foi possível observar aumento da expressão deste elemento nas aortas dos animais hipotiroideos. Na avaliação da expressão proteica para MMP-9, foi possível verificar uma redução desta proteína no grupo hipotiroideo, assim como um aumento da expressão de TIMP-2. Frente aos presentes resultados, é possível sugerir que o estado hipometabólico desencadeado pelo hipotiroidismo afeta as CMLVs comprometendo mecanismos de síntese/degradação, alterando o importante arranjo da MEC presente na aorta torácica. / The aim of this study was to investigate hypothyroidism effects on thoracic aorta wall. For histological analyses were performed stains like hematoxilin-eosin, picrosirius and Weigert. In the protein expression assays were performed quantification for collagen I and III, elastin, MMP-9, MMP-2, TIMP-1 and TIMP-2. The histological analyses showed a decrease in aortas CSA and also a decrease in protein expression of collagen I in the hypo group. As regards to elastin, was possible to see an increase of this protein expression in hypo animals. In the evaluation for MMP-9 expression, was found a decrease in this protein and for TIMP-2 an increase in hypothyroidism group. Facing to these results, is possible to suggest that the hypometabolic state triggered by hypothyroidism, affects the VSMCs compromising mechanisms of synthesis/degradation and changing the important constitution of thoracic aorta ECM.

In the present study samples were collected from abdominal linea alba aponeurosis of 30 patients (15 males and 15 females) aged from twenty to sixty years [30-59], (Mean=44.9±SD=7.3), with hernia of the anterior abdominal wall to evaluate the immunohistochemistry expression and morphometry of the elastic fibers. Nine of the patients were submitted to surgery at the Hospital de Clínicas in Porto Alegre (HCPA), ten of then at the Santa Casa de Misericórdia do Rio de Janeiro (SCMRJ), seven of them at the author’s private clinic (CA) in Caxias do Sul, and four of them at the Hospital Pompeia (HP) in Caxias do Sul. All patients had a hernia of the anterior abdominal wall. Fourteen of these cases were umbilical hernias, ten epigastric hernias and six incisional hernias. Specimens were collected from the midline three centimeters above the umbilical scar and from two centimeters below it. At the laboratory, the specimens were subdivided in two parts. One of these specimens was stained with orcein and the elastic fibers were counted by digital analysis using the applicative Image Pro Plus (Media Cybernetics, Silver Spring, USA). The other specimen was submitted to evaluation through immunohistochemistry analysis utilizing monoclonal anti-Emilin Antibody to EMILIN1 GP115 Elastin microfibril interface located protein TNF (Proteintech Group), in 1:100 dilution. Findings obtained from these patients were compared to findings obtained in a control group of non formolized cadavers from the Medical Examiner’s Office of Caxias do Sul. In this cadaver control group without hernias, aged from twenty to sixty years [20-59] (Mean= 40.5±SD=11.8), the same studies were carried out as in the surgical group with hernias to evaluate the differences in quantity and morphometry of elastic fibers between the two groups. Results show that the total amount of elastic fibers was 35% higher in patients with hernia of the anterior wall of the abdomen than in the cadaver control group with no hernias (p<.05). / In the present study samples were collected from abdominal linea alba aponeurosis of 30 patients (15 males and 15 females) aged from twenty to sixty years [30-59], (Mean=44.9±SD=7.3), with hernia of the anterior abdominal wall to evaluate the immunohistochemistry expression and morphometry of the elastic fibers. Nine of the patients were submitted to surgery at the Hospital de Clínicas in Porto Alegre (HCPA), ten of then at the Santa Casa de Misericórdia do Rio de Janeiro (SCMRJ), seven of them at the author’s private clinic (CA) in Caxias do Sul, and four of them at the Hospital Pompeia (HP) in Caxias do Sul. All patients had a hernia of the anterior abdominal wall. Fourteen of these cases were umbilical hernias, ten epigastric hernias and six incisional hernias. Specimens were collected from the midline three centimeters above the umbilical scar and from two centimeters below it. At the laboratory, the specimens were subdivided in two parts. One of these specimens was stained with orcein and the elastic fibers were counted by digital analysis using the applicative Image Pro Plus (Media Cybernetics, Silver Spring, USA). The other specimen was submitted to evaluation through immunohistochemistry analysis utilizing monoclonal anti-Emilin Antibody to EMILIN1 GP115 Elastin microfibril interface located protein TNF (Proteintech Group), in 1:100 dilution. Findings obtained from these patients were compared to findings obtained in a control group of non formolized cadavers from the Medical Examiner’s Office of Caxias do Sul. In this cadaver control group without hernias, aged from twenty to sixty years [20-59] (Mean= 40.5±SD=11.8), the same studies were carried out as in the surgical group with hernias to evaluate the differences in quantity and morphometry of elastic fibers between the two groups. Results show that the total amount of elastic fibers was 35% higher in patients with hernia of the anterior wall of the abdomen than in the cadaver control group with no hernias (p<.05).

Objetivo: Comparar os resultados encontrados no exame otoscópico em pacientes com síndrome de Williams e participantes sem a síndrome, a fim de estabelecer correlação entre anormalidades na elastina e retrações da membrana timpânica. Desenho do estudo: Estudo de prevalência, controlado. Local: Serviço de Otorrinolaringologia do Hospital de Clínicas de Porto Alegre Pacientes: Pacientes com diagnóstico definitivo de Síndrome de Williams e controles. Avaliação: Avaliação otoscópica digital de pacientes com Síndrome de Williams e controles, e classificação do grau da retração da membrana timpânica por dois avaliadores independentes. Principal medida de desfecho: Concordância entre avaliadores, prevalência de retrações em ambos os grupos. Resultados: A concordância entre os avaliadores foi de 71,1% para a retração da pars tensa e 65% para a retração da pars flaccida (p<0,001). As retrações da pars tensa e da pars flaccida apresentaram um resíduo ajustado de -2,8 (p=0.011) e -2,6 (p=0,022), respectivamente, em paciente portadores da síndrome de Williams, em comparação com os pacientes sem a síndrome. Conclusão: Neste estudo as retrações da membrana timpânica não foram significativamente prevalentes em pacientes com alterações na elastina.

In the present study samples were collected from abdominal linea alba aponeurosis of 30 patients (15 males and 15 females) aged from twenty to sixty years [30-59], (Mean=44.9±SD=7.3), with hernia of the anterior abdominal wall to evaluate the immunohistochemistry expression and morphometry of the elastic fibers. Nine of the patients were submitted to surgery at the Hospital de Clínicas in Porto Alegre (HCPA), ten of then at the Santa Casa de Misericórdia do Rio de Janeiro (SCMRJ), seven of them at the author’s private clinic (CA) in Caxias do Sul, and four of them at the Hospital Pompeia (HP) in Caxias do Sul. All patients had a hernia of the anterior abdominal wall. Fourteen of these cases were umbilical hernias, ten epigastric hernias and six incisional hernias. Specimens were collected from the midline three centimeters above the umbilical scar and from two centimeters below it. At the laboratory, the specimens were subdivided in two parts. One of these specimens was stained with orcein and the elastic fibers were counted by digital analysis using the applicative Image Pro Plus (Media Cybernetics, Silver Spring, USA). The other specimen was submitted to evaluation through immunohistochemistry analysis utilizing monoclonal anti-Emilin Antibody to EMILIN1 GP115 Elastin microfibril interface located protein TNF (Proteintech Group), in 1:100 dilution. Findings obtained from these patients were compared to findings obtained in a control group of non formolized cadavers from the Medical Examiner’s Office of Caxias do Sul. In this cadaver control group without hernias, aged from twenty to sixty years [20-59] (Mean= 40.5±SD=11.8), the same studies were carried out as in the surgical group with hernias to evaluate the differences in quantity and morphometry of elastic fibers between the two groups. Results show that the total amount of elastic fibers was 35% higher in patients with hernia of the anterior wall of the abdomen than in the cadaver control group with no hernias (p<.05). / In the present study samples were collected from abdominal linea alba aponeurosis of 30 patients (15 males and 15 females) aged from twenty to sixty years [30-59], (Mean=44.9±SD=7.3), with hernia of the anterior abdominal wall to evaluate the immunohistochemistry expression and morphometry of the elastic fibers. Nine of the patients were submitted to surgery at the Hospital de Clínicas in Porto Alegre (HCPA), ten of then at the Santa Casa de Misericórdia do Rio de Janeiro (SCMRJ), seven of them at the author’s private clinic (CA) in Caxias do Sul, and four of them at the Hospital Pompeia (HP) in Caxias do Sul. All patients had a hernia of the anterior abdominal wall. Fourteen of these cases were umbilical hernias, ten epigastric hernias and six incisional hernias. Specimens were collected from the midline three centimeters above the umbilical scar and from two centimeters below it. At the laboratory, the specimens were subdivided in two parts. One of these specimens was stained with orcein and the elastic fibers were counted by digital analysis using the applicative Image Pro Plus (Media Cybernetics, Silver Spring, USA). The other specimen was submitted to evaluation through immunohistochemistry analysis utilizing monoclonal anti-Emilin Antibody to EMILIN1 GP115 Elastin microfibril interface located protein TNF (Proteintech Group), in 1:100 dilution. Findings obtained from these patients were compared to findings obtained in a control group of non formolized cadavers from the Medical Examiner’s Office of Caxias do Sul. In this cadaver control group without hernias, aged from twenty to sixty years [20-59] (Mean= 40.5±SD=11.8), the same studies were carried out as in the surgical group with hernias to evaluate the differences in quantity and morphometry of elastic fibers between the two groups. Results show that the total amount of elastic fibers was 35% higher in patients with hernia of the anterior wall of the abdomen than in the cadaver control group with no hernias (p<.05).

Objetivo: Comparar os resultados encontrados no exame otoscópico em pacientes com síndrome de Williams e participantes sem a síndrome, a fim de estabelecer correlação entre anormalidades na elastina e retrações da membrana timpânica. Desenho do estudo: Estudo de prevalência, controlado. Local: Serviço de Otorrinolaringologia do Hospital de Clínicas de Porto Alegre Pacientes: Pacientes com diagnóstico definitivo de Síndrome de Williams e controles. Avaliação: Avaliação otoscópica digital de pacientes com Síndrome de Williams e controles, e classificação do grau da retração da membrana timpânica por dois avaliadores independentes. Principal medida de desfecho: Concordância entre avaliadores, prevalência de retrações em ambos os grupos. Resultados: A concordância entre os avaliadores foi de 71,1% para a retração da pars tensa e 65% para a retração da pars flaccida (p<0,001). As retrações da pars tensa e da pars flaccida apresentaram um resíduo ajustado de -2,8 (p=0.011) e -2,6 (p=0,022), respectivamente, em paciente portadores da síndrome de Williams, em comparação com os pacientes sem a síndrome. Conclusão: Neste estudo as retrações da membrana timpânica não foram significativamente prevalentes em pacientes com alterações na elastina.

In the present study samples were collected from abdominal linea alba aponeurosis of 30 patients (15 males and 15 females) aged from twenty to sixty years [30-59], (Mean=44.9±SD=7.3), with hernia of the anterior abdominal wall to evaluate the immunohistochemistry expression and morphometry of the elastic fibers. Nine of the patients were submitted to surgery at the Hospital de Clínicas in Porto Alegre (HCPA), ten of then at the Santa Casa de Misericórdia do Rio de Janeiro (SCMRJ), seven of them at the author’s private clinic (CA) in Caxias do Sul, and four of them at the Hospital Pompeia (HP) in Caxias do Sul. All patients had a hernia of the anterior abdominal wall. Fourteen of these cases were umbilical hernias, ten epigastric hernias and six incisional hernias. Specimens were collected from the midline three centimeters above the umbilical scar and from two centimeters below it. At the laboratory, the specimens were subdivided in two parts. One of these specimens was stained with orcein and the elastic fibers were counted by digital analysis using the applicative Image Pro Plus (Media Cybernetics, Silver Spring, USA). The other specimen was submitted to evaluation through immunohistochemistry analysis utilizing monoclonal anti-Emilin Antibody to EMILIN1 GP115 Elastin microfibril interface located protein TNF (Proteintech Group), in 1:100 dilution. Findings obtained from these patients were compared to findings obtained in a control group of non formolized cadavers from the Medical Examiner’s Office of Caxias do Sul. In this cadaver control group without hernias, aged from twenty to sixty years [20-59] (Mean= 40.5±SD=11.8), the same studies were carried out as in the surgical group with hernias to evaluate the differences in quantity and morphometry of elastic fibers between the two groups. Results show that the total amount of elastic fibers was 35% higher in patients with hernia of the anterior wall of the abdomen than in the cadaver control group with no hernias (p<.05). / In the present study samples were collected from abdominal linea alba aponeurosis of 30 patients (15 males and 15 females) aged from twenty to sixty years [30-59], (Mean=44.9±SD=7.3), with hernia of the anterior abdominal wall to evaluate the immunohistochemistry expression and morphometry of the elastic fibers. Nine of the patients were submitted to surgery at the Hospital de Clínicas in Porto Alegre (HCPA), ten of then at the Santa Casa de Misericórdia do Rio de Janeiro (SCMRJ), seven of them at the author’s private clinic (CA) in Caxias do Sul, and four of them at the Hospital Pompeia (HP) in Caxias do Sul. All patients had a hernia of the anterior abdominal wall. Fourteen of these cases were umbilical hernias, ten epigastric hernias and six incisional hernias. Specimens were collected from the midline three centimeters above the umbilical scar and from two centimeters below it. At the laboratory, the specimens were subdivided in two parts. One of these specimens was stained with orcein and the elastic fibers were counted by digital analysis using the applicative Image Pro Plus (Media Cybernetics, Silver Spring, USA). The other specimen was submitted to evaluation through immunohistochemistry analysis utilizing monoclonal anti-Emilin Antibody to EMILIN1 GP115 Elastin microfibril interface located protein TNF (Proteintech Group), in 1:100 dilution. Findings obtained from these patients were compared to findings obtained in a control group of non formolized cadavers from the Medical Examiner’s Office of Caxias do Sul. In this cadaver control group without hernias, aged from twenty to sixty years [20-59] (Mean= 40.5±SD=11.8), the same studies were carried out as in the surgical group with hernias to evaluate the differences in quantity and morphometry of elastic fibers between the two groups. Results show that the total amount of elastic fibers was 35% higher in patients with hernia of the anterior wall of the abdomen than in the cadaver control group with no hernias (p<.05).

Objetivo: Comparar os resultados encontrados no exame otoscópico em pacientes com síndrome de Williams e participantes sem a síndrome, a fim de estabelecer correlação entre anormalidades na elastina e retrações da membrana timpânica. Desenho do estudo: Estudo de prevalência, controlado. Local: Serviço de Otorrinolaringologia do Hospital de Clínicas de Porto Alegre Pacientes: Pacientes com diagnóstico definitivo de Síndrome de Williams e controles. Avaliação: Avaliação otoscópica digital de pacientes com Síndrome de Williams e controles, e classificação do grau da retração da membrana timpânica por dois avaliadores independentes. Principal medida de desfecho: Concordância entre avaliadores, prevalência de retrações em ambos os grupos. Resultados: A concordância entre os avaliadores foi de 71,1% para a retração da pars tensa e 65% para a retração da pars flaccida (p<0,001). As retrações da pars tensa e da pars flaccida apresentaram um resíduo ajustado de -2,8 (p=0.011) e -2,6 (p=0,022), respectivamente, em paciente portadores da síndrome de Williams, em comparação com os pacientes sem a síndrome. Conclusão: Neste estudo as retrações da membrana timpânica não foram significativamente prevalentes em pacientes com alterações na elastina.

O objetivo deste estudo foi investigar os efeitos do hipotiroidismo experimental sobre o leito vascular da aorta torácica. Para a análise histológica foram realizadas colorações de hematoxilina-eosina, picrosirius e Weigert. Na análise de expressão proteica, foram realizadas as quantificações para colágeno I e III, elastina, MMP-9 e MMP-2, TIMP-1 e TIMP-2. As análises histológicas demonstraram uma diminuição da AST das aortas dos animais hipo e juntamente a esta alteração, foi constatada a diminuição da expressão proteica de colágeno do tipo I. Em relação à elastina, foi possível observar aumento da expressão deste elemento nas aortas dos animais hipotiroideos. Na avaliação da expressão proteica para MMP-9, foi possível verificar uma redução desta proteína no grupo hipotiroideo, assim como um aumento da expressão de TIMP-2. Frente aos presentes resultados, é possível sugerir que o estado hipometabólico desencadeado pelo hipotiroidismo afeta as CMLVs comprometendo mecanismos de síntese/degradação, alterando o importante arranjo da MEC presente na aorta torácica. / The aim of this study was to investigate hypothyroidism effects on thoracic aorta wall. For histological analyses were performed stains like hematoxilin-eosin, picrosirius and Weigert. In the protein expression assays were performed quantification for collagen I and III, elastin, MMP-9, MMP-2, TIMP-1 and TIMP-2. The histological analyses showed a decrease in aortas CSA and also a decrease in protein expression of collagen I in the hypo group. As regards to elastin, was possible to see an increase of this protein expression in hypo animals. In the evaluation for MMP-9 expression, was found a decrease in this protein and for TIMP-2 an increase in hypothyroidism group. Facing to these results, is possible to suggest that the hypometabolic state triggered by hypothyroidism, affects the VSMCs compromising mechanisms of synthesis/degradation and changing the important constitution of thoracic aorta ECM.

INTRODUÇÃO: A síndrome de Williams-Beuren (SWB) resulta de uma deleção de aproximadamente 1.5 Mb na região 7q11.23. A haploinsuficiência ocasiona alterações do desenvolvimento neurológico assim como malformações em múltiplos sistemas. OBJETIVOS: Testar utilidade de marcadores polimórficos para o diagnóstico da síndrome, determinar a proporção de pacientes com microdeleção, comparar características clínicas entre pacientes com e sem microdeleção e investigar origem parental. MÉTODOS: Selecionamos 32 pacientes com avaliação clínica para SWB atendidas no ICr. Critérios de inclusão: presença de dismorfismo craniofacial acompanhado ou não de alterações cardiovasculares, comportamento característico ou hiperacusia. Para a genotipagem do trio - afetado, mãe e pai, utilizamos os marcadores D7S1870, Eln 17/éxon18 e Hei. Análise em gel de poliacrilamida à 7% com imagens digitalizadas. RESULTADOS: Os marcadores D7S1870, Hei e Eln17/éxon18 foram 78% informativos e 22% não informativos. O marcador mais informativo foi o D7S1870 69%, seguido do Hei 55% e ELN 17/éxon18 em 43%. Houve microdeleção em 56% e ausência em 22%. A origem parental da deleção foi 9 materna e 8 paterna. As alterações craniofaciais e cardiovasculares não tiveram diferenças estatisticamente significantes entre portadores e não portadores da microdeleção. O comportamento amigável resultou numa diferença estatística muito significante (p=0,006) onde 88% tinham e 28% não tinham microdeleção. A hiperacusia teve diferença estatística significante (p=0,020) presente em 55% dos pacientes com microdeleção. CONCLUSÃO: Os dados obtidos demonstraram que os marcadores utilizados são úteis no diagnóstico da SWB e acessível para utilização em serviço público. / INTRODUCTION: Williams-Beuren syndrome (WBS) results of ~1.5 Mb commonly deleted region chromosome 7q11.23 in 90-95% of all clinically typical cases. The clinical manifestations can be variable and is a developmental disorder with multisystem manifestations caused by haploinsufficiency for contiguous genes in this region. OBJECTIVE: Polimorphic markers were tested to determine the proportion of patients with and without microdeletion, to compare the clinical features and to establish the parental origin of the deletion. METHODS: 32 probands with WBS ascertained according to well-established diagnostic criteria. Genotyping using polimorphic markers D7S1870, Eln 17/éxon18 and Hei was performed on DNA from the patients and their available parents. RESULTS: The three markers were informative in 78% and non informative in 22%. The best marker was D7S1870 with 69%, followed by Hei in 55% and ELN 17/éxon18 in 43%.The microdeletion was present in 56% and absent in 22%. Craniofacial and cardiovascular alterations did not have significant statistical differences between probands with or without microdeletion. Two following characteristics (friendly personality and hyperacusia) were more frequent in the deleted group and these differences were statistical significant (p=0,006 and 0,02 respectively). CONCLUSIONS: Polimorphic markers used here demonstrated its viability and utility for the confirmation diagnosis of SWB in a public service.

INTRODUÇÃO: A síndrome de Williams-Beuren (SWB) resulta de uma deleção de aproximadamente 1.5 Mb na região 7q11.23. A haploinsuficiência ocasiona alterações do desenvolvimento neurológico assim como malformações em múltiplos sistemas. OBJETIVOS: Testar utilidade de marcadores polimórficos para o diagnóstico da síndrome, determinar a proporção de pacientes com microdeleção, comparar características clínicas entre pacientes com e sem microdeleção e investigar origem parental. MÉTODOS: Selecionamos 32 pacientes com avaliação clínica para SWB atendidas no ICr. Critérios de inclusão: presença de dismorfismo craniofacial acompanhado ou não de alterações cardiovasculares, comportamento característico ou hiperacusia. Para a genotipagem do trio - afetado, mãe e pai, utilizamos os marcadores D7S1870, Eln 17/éxon18 e Hei. Análise em gel de poliacrilamida à 7% com imagens digitalizadas. RESULTADOS: Os marcadores D7S1870, Hei e Eln17/éxon18 foram 78% informativos e 22% não informativos. O marcador mais informativo foi o D7S1870 69%, seguido do Hei 55% e ELN 17/éxon18 em 43%. Houve microdeleção em 56% e ausência em 22%. A origem parental da deleção foi 9 materna e 8 paterna. As alterações craniofaciais e cardiovasculares não tiveram diferenças estatisticamente significantes entre portadores e não portadores da microdeleção. O comportamento amigável resultou numa diferença estatística muito significante (p=0,006) onde 88% tinham e 28% não tinham microdeleção. A hiperacusia teve diferença estatística significante (p=0,020) presente em 55% dos pacientes com microdeleção. CONCLUSÃO: Os dados obtidos demonstraram que os marcadores utilizados são úteis no diagnóstico da SWB e acessível para utilização em serviço público. / INTRODUCTION: Williams-Beuren syndrome (WBS) results of ~1.5 Mb commonly deleted region chromosome 7q11.23 in 90-95% of all clinically typical cases. The clinical manifestations can be variable and is a developmental disorder with multisystem manifestations caused by haploinsufficiency for contiguous genes in this region. OBJECTIVE: Polimorphic markers were tested to determine the proportion of patients with and without microdeletion, to compare the clinical features and to establish the parental origin of the deletion. METHODS: 32 probands with WBS ascertained according to well-established diagnostic criteria. Genotyping using polimorphic markers D7S1870, Eln 17/éxon18 and Hei was performed on DNA from the patients and their available parents. RESULTS: The three markers were informative in 78% and non informative in 22%. The best marker was D7S1870 with 69%, followed by Hei in 55% and ELN 17/éxon18 in 43%.The microdeletion was present in 56% and absent in 22%. Craniofacial and cardiovascular alterations did not have significant statistical differences between probands with or without microdeletion. Two following characteristics (friendly personality and hyperacusia) were more frequent in the deleted group and these differences were statistical significant (p=0,006 and 0,02 respectively). CONCLUSIONS: Polimorphic markers used here demonstrated its viability and utility for the confirmation diagnosis of SWB in a public service.