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1.
Arch. endocrinol. metab. (Online) ; 65(1): 112-116, Jan.-Feb. 2021. tab
Artigo em Inglês | LILACS | ID: biblio-1152878

RESUMO

SUMMARY Pseudohypoparathyroidism comprehends an assorted group of genetically rare disorders that share end-organ resistance to parathyroid hormone. Genetic and epigenetic modifications on guanine nucleotide-binding protein alpha-stimulating gene locus are the most common underlying mechanisms associated with pseudohypoparathyroidism. Biochemical and molecular analysis stratify pseudohypoparathyroidism into types 1A, 1B, 1C, and 2. We describe an unusual case of sporadic pseudohypoparathyroidism type 1B. A 34-year-old Caucasian woman was admitted to the emergency department, with persistent asthenia, limb paresthesias, and tactile hyposensitivity. Her physical examination, previous personal and family histories were unsuspicious, except for mild, intermittent and self-limited complaints of paresthesia during her two pregnancies, but no detailed workup was done. No typical features of Albright hereditary osteodystrophy were observed. The initial laboratory investigation showed elevated parathyroid hormone level (311.2 pg/mL), hypocalcemia (albumin-corrected serum calcium 4.3 mg/dL), hypocalciuria, hyperphosphatemia, hypophosphaturia, and vitamin D deficiency. Combined calcium, vitamin D, and magnesium supplementation was commenced, with symptomatic and analytical improvement. Albeit resolution of vitamin D deficiency, the patient relapsed with mild and intermittent lower limb paresthesias. Pseudohypoparathyroidism was confirmed by molecular identification of the 3-kb STX16 deletion. The treatment was readjusted, and one year later, symptomatic remission was attained. Clinical and biochemical features, and their respective course, along with lack of distinctive features of Albright hereditary osteodystrophy pointed to pseudohypoparathyroidism type 1B. A careful follow-up is needed to avoid complications and recurrence. Once correction of hypocalcemia and hyperphosphatemia is achieved, with no reported complications and recurrence, a good prognosis is anticipated, comparable to the general population.


Assuntos
Humanos , Feminino , Pseudo-Hipoparatireoidismo , Pseudo-Hipoparatireoidismo/diagnóstico , Pseudo-Hipoparatireoidismo/genética , Deficiência de Vitamina D , Hipocalcemia , Hipocalcemia/genética , Hormônio Paratireóideo
2.
Arch Endocrinol Metab ; 65(1): 112-116, 2021 Nov 01.
Artigo em Inglês | MEDLINE | ID: mdl-33320452

RESUMO

Pseudohypoparathyroidism comprehends an assorted group of genetically rare disorders that share end-organ resistance to parathyroid hormone. Genetic and epigenetic modifications on guanine nucleotide-binding protein alpha-stimulating gene locus are the most common underlying mechanisms associated with pseudohypoparathyroidism. Biochemical and molecular analysis stratify pseudohypoparathyroidism into types 1A, 1B, 1C, and 2. We describe an unusual case of sporadic pseudohypoparathyroidism type 1B. A 34-year-old Caucasian woman was admitted to the emergency department, with persistent asthenia, limb paresthesias, and tactile hyposensitivity. Her physical examination, previous personal and family histories were unsuspicious, except for mild, intermittent and self-limited complaints of paresthesia during her two pregnancies, but no detailed workup was done. No typical features of Albright hereditary osteodystrophy were observed. The initial laboratory investigation showed elevated parathyroid hormone level (311.2 pg/mL), hypocalcemia (albumin-corrected serum calcium 4.3 mg/dL), hypocalciuria, hyperphosphatemia, hypophosphaturia, and vitamin D deficiency. Combined calcium, vitamin D, and magnesium supplementation was commenced, with symptomatic and analytical improvement. Albeit resolution of vitamin D deficiency, the patient relapsed with mild and intermittent lower limb paresthesias. Pseudohypoparathyroidism was confirmed by molecular identification of the 3-kb STX16 deletion. The treatment was readjusted, and one year later, symptomatic remission was attained. Clinical and biochemical features, and their respective course, along with lack of distinctive features of Albright hereditary osteodystrophy pointed to pseudohypoparathyroidism type 1B. A careful follow-up is needed to avoid complications and recurrence. Once correction of hypocalcemia and hyperphosphatemia is achieved, with no reported complications and recurrence, a good prognosis is anticipated, comparable to the general population.


Assuntos
Hipocalcemia , Pseudo-Hipoparatireoidismo , Deficiência de Vitamina D , Adulto , Feminino , Humanos , Hipocalcemia/genética , Hormônio Paratireóideo , Pseudo-Hipoparatireoidismo/diagnóstico , Pseudo-Hipoparatireoidismo/genética , Pseudo-Hipoparatireoidismo
3.
RELAMPA, Rev. Lat.-Am. Marcapasso Arritm ; 29(2): 49-56, mai.-jun.2016. tab, graf
Artigo em Português | LILACS | ID: lil-794470

RESUMO

O presente estudo examinou pacientes submetidos a implante de marcapasso dupla-câmara em decorrência de doença do nó sinusal ou bloqueio atrioventricular de 3o ou 2o graus do tipo 2 na doençarenal crônica em estágios 2, 3 e 4. O estudo teve como objetivo registrar os eventos arrítmicos durante 12 mesesde acompanhamento e comparar a incidência e a gravidade deles nas diferentes fases da doença renal crônica.Método: No total, 305 pacientes foram avaliados a cada 4 meses até 12 meses de acompanhamento. Os eventosarrítmicos foram avaliados em cada visita de acompanhamento. Resultados: Dentro do mesmo grupo de estágio da doença renal crônica não houve diferença entre as causas doença do nó sinusal e bloqueio atrioventricular, a respeito da ocorrência de qualquer arritmia. No entanto, menor incidência de taquicardia atrial/fibrilação atrial foi observada para todas as comparações entre todos os pacientes e os mesmos subgrupos em pacientes no estágio 2 (total: 58%; doença do nó sinusal: 63%; bloqueio atrioventricular: 51%), comparativamente aos estágios 3 (total:87%, P < 0,0001; doença do nó sinusal: 89%, P = 0,0020; bloqueio atrioventricular: 84%, P = 0,0019) e 4 (total: 85%, P < 0,0001; doença do nó sinusal: 81%, P = 0,0409; bloqueio atrioventricular: 90%, P < 0,0001). Em relação à taquicardia ventricular não sustentada/taquicardia ventricular sustentada, foi observada incidência mais elevada para todas as comparações entre todos os pacientes e os mesmos subgrupos em pacientes no estágio 4 (total: 32%; doença do nó sinusal: 16%; bloqueio atrioventricular: 16%), comparativamente aos estágios 3 (total: 11%, P = 0,0007; doença do nó sinusal: 9%, P = 0,0110; bloqueio atrioventricular: 14%, P = 0,0441) e 2 (total: 3%, P < 0,0001; doença do nó sinusal: 3%, P < 0,0001; bloqueio atrioventricular: 4%, P < 0,0001). Conclusão: Nossos resultados sugerem que quanto mais avançado o estágio da doença renal crônica maior a incidência de arritmias malignas...


The present study evaluated patients who had received a dual chamber pacemaker implant due to sinus node disease or 3rd/2nd degree type 2 atrioventricular block in chronic kidney disease stages 2, 3 and 4. The study was aimed at registering arrhythmic events for 12 months of follow-up and comparing their incidence and severity in different stages of chronic kidney disease. Method: Three hundred and five patients were evaluated every 4 months up to 12 months of follow-up. Arrhythmic events were assessed at each follow-up visit. Results: Within the same chronic kidney disease stage group there was no difference between the causes ofsinus node disease and atrioventricular block for the occurrence of any arrhythmia. However, a lower incidence of atrial fibrillation/tachycardia was observed for all comparisons among all patients and the same subgroups in stage 2 patients (total: 58%; sinus node disease: 63%; atrioventricular block: 51%) compared to stages 3 (total: 87%,P < 0.0001; sinus node disease: 89%, P = 0.0020; atrioventricular block: 84%, P = 0.0019) and 4 (total: 85%,P < 0.0001; sinus node disease: 81%, P = 0.0409; atrioventricular block: 90%, P < 0.0001). Regarding nonsustained/ sustained ventricular tachycardia, a higher incidence was observed for all comparisons among all patients and the same subgroups in stage 4 patients (total: 32%; sinus node disease: 16%; atrioventricular block: 16%) compared to stages 3 (total: 11%, P = 0.0007; sinus node disease: 9%, P = 0.0110; atrioventricular block: 14%, P = 0.0441) and 2 (total: 3%, P < 0.0001; sinus node disease: 3%, P < 0.0001; atrioventricular block: 4%,P < 0.0001). Conclusion: Our findings suggest that the more advanced the stage of chronic kidney disease, thegreater the incidence of malignant arrhythmias...


Assuntos
Humanos , Arritmias Cardíacas/complicações , Arritmias Cardíacas/diagnóstico , Insuficiência Renal Crônica/complicações , Nó Sinoatrial/fisiopatologia , Marca-Passo Artificial , Pacientes , Átrios do Coração/cirurgia , Bloqueio Sinoatrial/fisiopatologia , Estudos de Coortes , Fatores de Risco , Interpretação Estatística de Dados , Resultado do Tratamento , Ventrículos do Coração/cirurgia
4.
Acta Med Port ; 29(9): 549-555, 2016 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-28060693

RESUMO

INTRODUCTION: Obsessive-compulsive disorder is a psychiatric disorder stated as one of the most debilitating diseases in the developedworld. However, not much is known about how this disease impairs patients' quality of life in children. MATERIAL AND METHODS: We conducted a research in PubMed and Thomson Reuters Web Of Science using the following terms: 'Quality of life', 'Obsessive-compulsive disorder', 'Child', 'Pediatrics' and 'Adolescent'. Of the 138 papers retrieved with this search, five articles corresponded to the aim of this review. We analyzed quality of life in children with obsessive-compulsive disorder comparing with general population and searching the relation with other clinical variables such as sex, age, comorbidities, symptoms dimension, symptoms severity, family accommodation and quality of life. RESULTS: Albeit studies results not being concordant regarding the different dimensions analyzed, our findings pointed to an overall decrease of quality of life in children with obsessive-compulsive disorder. The presence of co-morbidities, symptoms severity and obsessions with harm/aggression content are the variables that have a higher influence in quality of life levels. DISCUSSION: The small number of articles found and the fact that their methodology was extremely heterogeneous made it difficult to state robust conclusions. Despite that, our findings agree with other studies in adults. CONCLUSION: Quality of life in children and adolescents with obsessive-compulsive disorder must be better explored in future researches. We suggest the introduction of quality of life as a routinely used instrument in patient's assessment and in treatment response evaluation.


Introdução: A perturbação obsessiva-compulsiva foi apontada como uma das doenças mais debilitantes do mundo desenvolvido. Contudo, muito pouco é conhecido sobre esta doença relativamente ao modo como ela afeta a qualidade de vida das crianças. Material e Métodos: Conduzimos uma pesquisa na PubMed e Thomson Reuters Web Of Science usando os seguintes termos de pesquisa: 'Quality of life', 'Obsessive-compulsive disorder', 'Child', 'Pediatrics' e 'Adolescent'. Dos 138 artigos obtidos, cinco correspondiam aos objetivos desta revisão. Analisámos a qualidade de vida de crianças com perturbação obsessiva-compulsiva comparando com a população geral e procurando a relação com outras variáveis clinicas como o sexo, idade, comorbilidades, categoria de sintomas, severidade dos sintomas e acomodação familiar. Resultados: Apesar dos estudos não serem concordantes relativamente às diferentes dimensões analisadas, os nossos resultados apontam para um decréscimo global da qualidade de vida em crianças com perturbação obsessiva-compulsiva. A presença de comorbilidades, a severidade dos sintomas e as obsessões de agressão/dano são as variáveis que têm maior influência na qualidade de vida dos pacientes. Discussão: O reduzido número de artigos encontrados e o facto de estes apresentarem uma metodologia extremamente heterogénea torna difícil alcançar conclusões robustas. Apesar disto, os nossos resultados são concordantes com estudos realizados em adultos. Conclusão: A qualidade de vida em crianças e adolescentes deve ser melhor explorada em futuros estudos. Sugerimos a introdução da qualidade de vida como instrumento usado rotineiramente para avaliar a resposta ao tratamento e evolução do paciente.


Assuntos
Transtorno Obsessivo-Compulsivo , Qualidade de Vida , Criança , Humanos
5.
Genet Mol Res ; 12(4): 6983-95, 2013 Dec 20.
Artigo em Inglês | MEDLINE | ID: mdl-24391056

RESUMO

Endophytic microorganisms represent promising alternatives for obtaining new drugs of biotechnological importance. In this study, the endophytic species Acremonium cavaraeanum (A1a) isolated from Cocos nucifera was cultivated for the production of secondary metabolites, and its extracts and fractions were evaluated by the dilution method (MIC). The EtOAc extracts and MeOH fractions were tested against Gram-positive and -negative bacteria, and had an MIC of 125 µg/mL when evaluated in the EtOAc extract (EBI). The EtOAc extract (EBII) had an MIC of 62.25 µg/mL for Staphylococcus aureus and an MIC between 125 and 250 µg/mL for Gram-negative bacteria. The methanolic fractions showed activity with MIC between 125 and 250 µg/mL for all bacteria tested. The IGS region of the rDNA repeat unit of genomic DNA was analyzed by PCR/RFLPs, including endonucleases PstI, BamHII, HinfI, and EcoRI. The physical maps showed different restriction sites for the 6 Acremonium sp isolates, and revealed 5 RFLP patterns. The results showed that isolates of the same Acremonium species exhibited variation in this specific region. The sequences of ITS1-5.8S-ITS2 regions were aligned by Clustal W using the neighbor joining method, which grouped the isolates into 5 distinct clusters. This study aimed to evaluate the genetic diversity of A. cavaraeanum crops exhibiting antibacterial activity. The results of this study indicate that different fungal genetic isolates have biotechnological potential for the production of active bio-compounds against several human pathogens.


Assuntos
Acremonium/genética , DNA Espaçador Ribossômico/genética , Proteínas Fúngicas/farmacologia , Bactérias Gram-Negativas/efeitos dos fármacos , Bactérias Gram-Positivas/efeitos dos fármacos , Acremonium/isolamento & purificação , Antibacterianos/isolamento & purificação , Mapeamento Cromossômico , Cocos/microbiologia , Extração Líquido-Líquido , Testes de Sensibilidade Microbiana , Polimorfismo de Fragmento de Restrição
6.
Int Endod J ; 44(8): 759-63, 2011 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-21470250

RESUMO

AIM: To evaluate the bond strength of self-adhesive resin cements (SARCs) to glass fibre posts with or without a silane coupling agent. METHODOLOGY: The SARCs tested were: Maxcem Elite (MXE; Kerr), RelyX Unicem clicker (UNI; 3M ESPE), seT capsule (SET; SDI), and SmartCem 2 (SC2; Dentsply Caulk). The conventional cement RelyX ARC (ARC; 3M ESPE) was evaluated as a reference. Rectangular-shaped flat posts were obtained (Angelus). After silanizing or not the posts, resin cement cylinders were built on the post surfaces. The cylinders were tested in shear after 24 h. Bond strength data were submitted to two-way anova and Student-Newman-Keuls' test (5%). Failure modes were classified under magnification as adhesive failure, mixed failure involving the cement or mixed failure involving the post. RESULTS: For ARC, MXE and SET, the silanated groups had higher bond strengths. For SC2 the silane had no influence, while for UNI silanization decreased the bond strength. The conventional ARC had the lowest bond strength when the posts were not silanated; UNI showed the highest values. When the posts were silanated, SET had the highest values, followed by MXE, ARC and SC2; UNI had the lowest values. A predominance of adhesive failures was detected for all groups, with higher number of mixed failures when the posts were silanated. CONCLUSION: As the silane impaired or generally had no effect on the bond strength of SARCs to the glass fibre posts, and also as the bond strength of all SARCs was higher than the conventional cement when the posts were not silanated, it seems that silanization of glass fibre posts is not necessary when SARCs are used.


Assuntos
Colagem Dentária/métodos , Técnica para Retentor Intrarradicular , Cimentos de Resina , Silanos , Análise do Estresse Dentário , Vidro , Teste de Materiais , Cimentos de Resina/química , Resistência ao Cisalhamento
7.
Interface comun. saúde educ ; 13(29): 409-420, abr.-jun. 2009. ilus
Artigo em Português | LILACS, Sec. Est. Saúde SP | ID: lil-518777

RESUMO

An analysis model proposed by Jean-Marie Floch is presented as a possible tool for creating and evaluating visual communication within the field of healthcare, and in particular for educational campaigns. Starting from introductory questions relating to semiotics, certain concepts common to discursive semiotics and esthetic semiotics are laid out, as postulated by Floch. A model based on the semantic opposites of euphoria and dysphoria is then presented. The paper ends by demonstrating the application of the model to a poster from a preventive campaign against smoking-related diseases.


Apresenta-se um modelo de análise proposto por Jean-Marie Floch como possibilidade para a criação e avaliação da comunicação visual na área da saúde, especialmente em campanhas educativas. Parte-se de questões introdutórias acerca da semiótica, expõem-se alguns conceitos comuns à semiótica discursiva e a semioestética, conforme postulado por Floch, e apresenta-se o modelo que tem a euforia e a disforia como oposição semântica de base. Ao final, mostra-se a aplicação do modelo em um cartaz de uma campanha preventiva contra doenças provocadas pelo fumo.


Se presenta un modelo de análisis propuesto por Jean-Marie Floch como posibilidad para la creación y valuación de la comunicación visual en el área de la salud, especialmente en campañas educativas. Se parte de cuestiones introductorias acerca de la semiótica, se exponen algunos conceptos comunes a la semiótica discursiva y a la semiótica estética, tal como postula Floch y se presenta el modelo que tiene la euforia y la ansiedad como oposición semántica de base. Al final se muestra la aplicación del modelo en el cartel de una campaña preventiva contra enfermedades provocadas por el tabaco.


Assuntos
Prevenção de Doenças , Promoção da Saúde , Publicidade
8.
J Hazard Mater ; 133(1-3): 183-95, 2006 May 20.
Artigo em Inglês | MEDLINE | ID: mdl-16297545

RESUMO

Explosibility and ignitability studies of air/cork dust mixtures were conducted in a near-spherical 22.7 L explosibility test chamber using pyrotechnic ignitors and in a furnace of 1.23 L. The suspension dust burned as air-dispersed dust clouds and the uniformity of the dispersion inside the chamber was evaluated through optical dust probes. The range of tested particle sizes went from a mass median diameter of 47.4 to 438.3 microm and the covered dust cloud concentration was up to 700-800 g/m(3). Measured explosion parameters included minimum explosible concentration, maximum explosion pressure, maximum rate of pressure rise and minimum autoignition temperature. The effect of dust particle size on flammability was evaluated and it was found that the minimum explosible concentration is around 40 g/m(3) and it is relatively independent of particle size below 180 microm. Maximum explosion pressure of 7.2 bar and maximum rate of pressure rise of 179 bar/s were detected for the smallest tested sizes. The limitations on the rates of devolatilization of the solid particles became rate controlling at high burning velocities, at high dust loadings and for large particle sizes. The effect of initial pressure on the characteristic parameters of the explosion was studied by varying the initial absolute pressure from 0.9 bar to 2.2 bar, and it was found that as initial pressure increases, there is a proportional increase of minimum explosion limit, maximum explosion pressure, and maximum rate of pressure rise. The influence of the intensity of the ignition energy on the development of the explosion was evaluated using ignition energies of 1000 J, 2500 J and 5000 J, and the experimental data showed that the value of 2500 J is the most convenient to use in the determination of minimum explosion concentration. The behavior of the cork dust explosion in hybrid methane air mixtures was studied for atmospheres with 2% and 3.5% (v/v) of methane. The effect of methane content on the characteristic parameters of the explosions was evaluated. The conclusion is that, the hazard and explosion danger rise with the increase of methane concentration, characterized by the reduction of the minimum dust explosion concentration. The minimum autoignition temperature obtained with the thermal ignition tests was 540 degrees C and the results have shown that this value is independent of particle size, for particles with mass median diameters below 80 microm.


Assuntos
Poeira , Explosões , Casca de Planta/química , Quercus/química , Metano/química , Microscopia Eletrônica de Varredura , Tamanho da Partícula , Pressão , Temperatura
9.
Exp Parasitol ; 93(4): 191-7, 1999 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-10600444

RESUMO

Our aim was to investigate the possible involvement of nitric oxide (NO) in peripheral denervation during the acute phase of murine experimental Trypanosoma cruzi infection. Wistar male rats were infected with the Y strain of T. cruzi. One group of animals was also treated with the NO synthase inhibitor N-nitro-l-arginine. A group of uninfected animals was the control. At the 18th day of infection the animals were sacrificed. Quantification of neurons in the colon and heart and tissue parasitism in the heart was performed. Serum concentration of nitrate was measured and a histochemical technique for assessing NADPH-diaphorase activity in the colon was also performed. The infected animals presented a statistically significant decrease in the number of peripheral neurons in the colon and heart and a 2-fold increase in serum NO(3) concentration compared with controls. The animals treated with N-nitro-l-arginine showed almost an absence of NO(3) concentration in the serum and did not show loss of neurons compared with controls. These treated animals displayed a 15-fold increase in tissue parasitism compared with nontreated infected animals. The NADPH-diaphorase activity was much more intense in the muscle layers of the colon of the infected animals than in those of the controls. Taken together, these data suggest that NO is involved in the peripheral denervation observed in the acute phase of experimental T. cruzi infection.


Assuntos
Sistema Nervoso Autônomo/patologia , Doença de Chagas/patologia , Neurônios/patologia , Óxido Nítrico/fisiologia , Doença Aguda , Animais , Colo/enzimologia , Colo/inervação , Colo/patologia , Inibidores Enzimáticos/farmacologia , Átrios do Coração/inervação , Átrios do Coração/parasitologia , Átrios do Coração/patologia , Masculino , Músculo Liso/enzimologia , Músculo Liso/patologia , Plexo Mientérico/patologia , Miocárdio/patologia , NADPH Desidrogenase/metabolismo , Nitratos/sangue , Óxido Nítrico Sintase/antagonistas & inibidores , Nitroarginina/farmacologia , Ratos , Ratos Wistar
10.
Cancer Genet Cytogenet ; 111(2): 152-6, 1999 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-10347554

RESUMO

Germ-line mutations in the adenomatous polyposis coli (APC) gene are responsible for familial adenomatous polyposis (FAP). In the present study, we have used the protein truncation test to screen for mutations in exon 15 and exons 1-14 of the APC gene and denaturing gradient gel electrophoresis to analyze exons 1-14. We have studied nine unrelated FAP kindreds, eight with the classical phenotype and one with an atypical phenotype, with several family members exhibiting fewer than 50 colonic polyps. The combined use of these two methodologies allowed the identification of seven novel mutations, with two unrelated families sharing the same mutation. All mutations were chain terminating: six resulted from small deletions, one from a small insertion, and one was a point mutation, resulting in a premature stop codon. Seven mutations were located in exon 15 of the APC gene, one was in exon 10, and the remaining one, which corresponded to the kindred with an atypical phenotype, was located in exon 4.


Assuntos
Polipose Adenomatosa do Colo/genética , Proteínas do Citoesqueleto/genética , Genes APC , Mutação , Proteína da Polipose Adenomatosa do Colo , Proteínas do Citoesqueleto/metabolismo , Análise Mutacional de DNA , Eletroforese/métodos , Feminino , Humanos , Masculino , Linhagem , Fenótipo , Portugal
11.
Ribeirao Preto; s.n; 1999. 1 p.
Não convencional em Português | LILACS, Sec. Est. Saúde SP, HANSEN, Hanseníase, SESSP-ILSLACERVO, Sec. Est. Saúde SP | ID: biblio-1236116
12.
Am J Gastroenterol ; 93(10): 1991-2, 1998 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-9772075

RESUMO

It remains debatable whether young patients with colorectal tumors should undergo genetic testing with the aim of identifying new hereditary nonpolyposis colorectal cancer families. We describe a case of a young woman with colon cancer with no clinical criteria of hereditary nonpolyposis colorectal cancer, whose genetic analysis showed that the tumor displayed microsatellite instability, and in whom a truncated protein in hMSH2 gene was found, which was also present in two at-risk relatives.


Assuntos
Neoplasias do Colo/genética , Neoplasias Colorretais Hereditárias sem Polipose/genética , Reparo do DNA/genética , Proteínas de Ligação a DNA , Repetições de Microssatélites , Adulto , Feminino , Humanos , Proteína 2 Homóloga a MutS , Mutação , Linhagem , Proteínas Proto-Oncogênicas/genética , Fatores de Risco
13.
Am J Gastroenterol ; 93(9): 1572-4, 1998 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-9732950

RESUMO

The Muir-Torre syndrome is a rare autosomal dominant disorder characterized by the association of visceral malignancies with typical skin lesions. This syndrome is now considered a subtype of the more common hereditary nonpolyposis colorectal cancer syndrome (HNPCC). This last condition has been ascribed to mutations in four mismatch repair genes, and similar mutations, mostly located at hMSH2 gene, are now being described in some Muir-Torre patients. We describe the case of a 64-yr-old woman with no family history of colorectal cancer, who developed two visceral malignancies belonging to the usual spectrum of hereditary nonpolyposis colorectal cancer (colon and stomach), beginning at age 41. She additionally developed several skin tumors, including multiple keratoacanthomas, thus fulfilling Muir-Torre diagnostic criteria. Because of her cutaneous phenotype, she was screened for DNA mismatch repair gene mutations by in vitro synthetized protein assay (IVSP) and a truncating mutation was identified at hMSH2. We further discuss the clinical significance of the Muir-Torre phenotype, the association of this syndrome with hMSH2 mutations and the important implications of genetic diagnosis for the patient and her offspring.


Assuntos
Neoplasias Colorretais Hereditárias sem Polipose/genética , Proteínas de Ligação a DNA , Proteínas de Neoplasias/genética , Neoplasias Primárias Múltiplas/genética , Proteínas Proto-Oncogênicas/genética , Neoplasias Cutâneas/genética , Feminino , Humanos , Pessoa de Meia-Idade , Proteína 2 Homóloga a MutS , Fenótipo , Síndrome
14.
Acta Med Port ; 11(1): 25-32, 1998 Jan.
Artigo em Português | MEDLINE | ID: mdl-9580364

RESUMO

Familial adenomatous polyposis of the colon (FAP) is a dominant autosomic disease in which virtually 100% of the affected individuals develop colorectal cancer before the age of forty. The gene responsible for this disease (APC gene) is mutated in the germ line of these patients. The genetic diagnosis of FAP was initially done using linkage analysis. Because 95% of the mutations in APC gene result in a stop codon which will originate a truncated protein, previous authors have proposed that the mutation analysis should be performed using an in vitro synthesized protein (IVSP) assay. In this study we searched for germinal mutations in exon 15 of the APC gene in subjects belonging to families with FAP, using the IVSP assay. Eighty individuals belonging to 23 families were included in this series. We started by studying exon 15 which encompasses 6500/8535 bp and which corresponds to 75% of the coding region. This exon was divided into four fragments, which were amplified by PCR and the product was used in a transcription/translation assay. Mutations resulting in a truncated protein were detected in 9/23 (39%) of the families. This corresponds to 20/42 (48%) of individuals analysed in these nine families. All the mutations were located in the 5' region of exon 15, with seven of them being in the first fragment and the remaining two in the same place of the second fragment. With the exception of two healthy individuals at risk, all the others with a detected mutation, already exhibited clinical manifestations. One of these two individuals was later confirmed to harbor colonic polyps, strengthening the diagnostic accuracy of this IVSP analysis. We also identified 10 other healthy subjects at risk with a negative genetic diagnosis, who were therefore removed from surveillance programs. In conclusion, our results show that IVSP analysis has a high sensitivity as a diagnostic tool and should be used as the first screening method to identify those individuals who have inherited the genetic defect, even before they have developed any symptoms. This will enable us to try new drugs which may potentially delay or prevent the development of colonic polyps.


Assuntos
Polipose Adenomatosa do Colo/genética , Proteínas do Citoesqueleto/genética , Genes APC , Proteína da Polipose Adenomatosa do Colo , Adolescente , Adulto , Fatores Etários , Idoso , Criança , Feminino , Mutação em Linhagem Germinativa , Humanos , Masculino , Pessoa de Meia-Idade , Linhagem , Fenótipo , Reação em Cadeia da Polimerase , Sensibilidade e Especificidade
15.
J Med Genet ; 33(3): 244-7, 1996 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-8728702

RESUMO

Owing to the large size of the APC gene, responsible for familial adenomatous polyposis, direct screening for individual mutations is not a practical approach. In the present study we establish the methodology of fluorescence based semi-automated DNA analysis to perform presymptomatic diagnosis of members at risk from 11 Portuguese FAP families with three (CA)n markers flanking the APC gene, MBC, CB26, and YN5.64, and four intragenic RFLPs. Haplotypes were constructed on the basis of individual genotypes and their segregation through generations were followed. The study was informative for 12% of subjects using only intragenic RFLPs and increased to 90% when we used the three (CA)n flanking markers. We report two of the 11 families under study in our laboratory and show recombinant events leading to a precise localisation of the CB26 marker between D5S82 and the APC gene. In one family there was a loss of (CA) units of one allele of the CB26 marker from an unaffected mother to her son.


Assuntos
Polipose Adenomatosa do Colo/genética , Genes APC , Íntrons , Polimorfismo de Fragmento de Restrição , Sequências Repetitivas de Ácido Nucleico , Automação , DNA/sangue , DNA/genética , DNA/isolamento & purificação , Feminino , Marcadores Genéticos , Genótipo , Haplótipos , Humanos , Masculino , Linhagem , Portugal , Medição de Risco
16.
Aesthetic Plast Surg ; 11(2): 87-93, 1987.
Artigo em Inglês | MEDLINE | ID: mdl-3630840

RESUMO

The authors report on a 25-year retrospective study of 488 cases of prominent (protruding) ears corrected by the island technique of Pitanguy.


Assuntos
Orelha Externa/anormalidades , Cirurgia Plástica/métodos , Adolescente , Adulto , Cartilagem/cirurgia , Criança , Pré-Escolar , Procedimentos Cirúrgicos Dermatológicos , Feminino , Humanos , Lactente , Masculino , Estudos Retrospectivos
17.
Rev. Col. Bras. Cir ; 10(1): 29-34, 1983.
Artigo em Português | LILACS | ID: lil-14909

RESUMO

Em um periodo de 11 anos, 70 pacientes do sexo feminino foram tratados de ulcera gastrica: 29 clinicamente e 41 cirurgicamente. Entre as operadas, detectaram-se 8 casos de ulceras malignas (19,5%). EM face deste significativo indice de malignidade, indica-se a resseccao da ulcera, qualquer que seja a operacao a ser executada. E por apresentar a menor incidencia de recidiva ulcerosa, a gastrectomia parcial e recomendada, apesar de haver situacoes em que a vagotomia superseletiva sem piloroplastia ou a vagotomia troncular + piloroplastia tenham indicacoes satisfatorias.Nestas ultimas, todavia deve haver sempre a ulcerectomia associada, pois este e o artificio mais seguro para que nao passe despercebida uma ulcera maligna


Assuntos
Adulto , Pessoa de Meia-Idade , Humanos , Feminino , Úlcera Gástrica , Procedimentos Cirúrgicos Operatórios , Seguimentos
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