Genetic Predisposition
Mostrando 1-12 de 250 artigos, teses e dissertações.
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1. The impact of the genetic background in a patient with papillary thyroid cancer and familial adenomatous polyposis
SUMMARY Thyroid cancer is the most common endocrine malignancy, and papillary thyroid carcinoma (PTC) is the main subtype. The cribriform morular variant is a histological phenotype of PTC characterized by its relationship with familial adenomatous polyposis (FAP). Description of the case: We report the genetic assessment of a 20-year-old female patient diag
Archives of Endocrinology and Metabolism. Publicado em: 2022
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2. Association between the CTLA4 +49A/G (rs231775) and CT60 (rs3087243) gene variants with vitiligo: study on a Mexican population
Abstract Background: Vitiligo is characterized by an autoimmune response targeting melanocytes, thus resulting in skin depigmentation. There are several genetic components involved in the development of vitiligo, of which various gene polymorphisms are currently considered as risk factors. For example, the CTLA4 (T-lymphocyte antigen 4) +49A/G (rs231775) an
Anais Brasileiros de Dermatologia. Publicado em: 2022
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3. CTLA4 +49AG (rs231775) and CT60 (rs3087243) gene variants are not associated with alopecia areata in a Mexican population from Monterrey Mexico,
Abstract Background: Alopecia areata is an autoimmune disease that produces non-scarring hair loss around the body. Gene variants of the cytotoxic T-lymphocyte antigen 4 (CTLA4) gene, a negative regulator of T-cell response, have been associated with a predisposition to autoimmune diseases in different populations; however, the involvement of these genetic
An. Bras. Dermatol.. Publicado em: 2020-06
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4. Canine POMC deletion (P187fs) allele frequency in Labrador Retrievers in Brazil
RESUMO: O Labrador Retriever é uma das principais raças caninas com maior predisposição à obesidade. Vários fatores, especialmente as interrelações entre a alimentação, exercício e fatores sociais, influenciam a probabilidade de um cão se tornar obeso. Além disso, fatores genéticos são também responsáveis pela obesidade em cães, e no Labrad
Pesq. Vet. Bras.. Publicado em: 02/12/2019
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5. METALLOTHIONEIN-2A (RS1610216&RS28366003) GENE POLYMORPHISMS AND THE RISK OF STOMACH ADENOCARCINOMA
RESUMO CONTEXTO: O câncer gástrico é a quarta causa mais comum de câncer em todo o mundo. Também em contraste com os enormes avanços na cura, a chance de viver é muito baixa, mesmo em casos de cirurgia. Ter uma predisposição genética desempenha um papel importante no desenvolvimento do câncer. A associação entre polimorfismos do gene metalotio
Arq. Gastroenterol.. Publicado em: 07/11/2019
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6. How diseases became “genetic”
Resumo O presente artigo tem o objetivo de examinar as origens do termo “doença genética. No final do século XIX e início do XX, a vaga ideia que a doença manifesta entre familiares refletia uma “predisposição” familiar, foi substituída pela visão que essas doenças possuem causas específicas, enquanto a genética mendeliana forneceu as pista
Ciênc. saúde coletiva. Publicado em: 26/09/2019
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7. Methylation status of the PPP1R13L promoter region among lung cancer patients and healthy controls. Analytical cross-sectional study
ABSTRACT BACKGROUND: There is evidence that genetic predisposition and epigenetic alteration (e.g. DNA methylation) play major roles in lung cancer. In our genetic epidemiological studies, rs1970764 in oncogene PPP1R13L was most consistently associated with lung cancer risk. Here, we explored the role of PPP1R13L methylation in lung cancer development. DE
Sao Paulo Med. J.. Publicado em: 29/08/2019
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8. Pheochromocytoma and paraganglioma: implications of germline mutation investigation for treatment, screening, and surveillance
ABSTRACT Objective Paraganglioma (PGL) and pheochromocytoma (PCC) are rare neuroendocrine tumors that were considered to be predominantly sporadic. However, with the identification of novel susceptibility genes over the last decade, it is currently estimated that up to 40% of cases can occur in the context of a hereditary syndrome. We aimed to characterize
Arch. Endocrinol. Metab.. Publicado em: 29/07/2019
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9. Nasal Polyposis: More than a Chronic Inflammatory Disorder-A Disease of Mechanical Dysfunction- The São Paulo Position
Abstract Introduction The importance of our study lies in the fact that we have demonstrated the occurrence ofmechanical dysfunction within polypoid tissues, which promotes the development of polyps in the nasal cavity. Objective To change the paradigm of nasal polyposis (NP). In this new conception, the chronic nasal inflammatory process that occurs in
Int. Arch. Otorhinolaryngol.. Publicado em: 18/07/2019
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10. Isthmocele: an overview of diagnosis and treatment
RESUMO A istmocele ou nicho uterino é representada por uma descontinuidade miometrial ou um defeito anecoico triangular na parede uterina anterior, com a base se comunicando com a cavidade uterina no local de uma cicatriz anterior de cesárea. O defeito pode ser classificado como pequeno ou grande, dependendo da espessura da parede miometrial deficiente. Em
Rev. Assoc. Med. Bras.. Publicado em: 03/06/2019
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11. Refractory ascites and graft dysfunction in early renal transplantation
Resumo A ocorrência de ascite no pós-Transplante Renal (TR) é infrequente, podendo ser consequência de complicações cirúrgicas ou médicas. Caso clínico: 61 anos, masculino, antecedentes de hipertensão arterial, carcinoma da língua e hábitos alcoólicos 12-20g/dia. Doença renal crônica secundária à doença renal poliquística autossômica domi
J. Bras. Nefrol.. Publicado em: 18/03/2019
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12. Hereditary melanoma: a five-year study of Brazilian patients in a cancer referral center - phenotypic characteristics of probands and pathological features of primary tumors
Abstract: BACKGROUND: Approximately five to 10% of all melanomas occur in families with hereditary predisposition and the main high-risk melanoma susceptibility gene is the CDKN2A. OBJECTIVES: To describe, after a five-years study, the clinical data of patients (probands) from familial melanoma kindreds, and the pathological characteristics of their melano
An. Bras. Dermatol.. Publicado em: 2018-06