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1.
J Gastrointest Cancer ; 52(3): 839-845, 2021 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-34128198

RESUMO

AIM: Gastric cancer is the third leading cause of cancer death and the fifth most common cancer worldwide. Screening is one of the most important ways to increase survival. The aim of this systematic review was to determinate barriers and facilitators for accessing gastric cancer screening. MATERIALS AND METHODS: In this systematic review, for identifying barriers and facilitators of gastric cancer screening, a comprehensive search was conducted in electronic databases such as PubMed, Web of Science, and Scopus in 2021. Combination keywords such as gastric cancer, screening, endoscopy, barriers, and facilitators were used for searching. Full text original studies in English language that are dealing with barriers and facilitators for accessing gastric cancer screening were included in this review. RESULTS: A total 13 articles included in this review. Ten barriers and ten facilitators were evaluated. The most common reported barriers were lack of signs, fear of screening procedure, fear of screening outcome, cost of screening, and embarrassment. The most frequent facilitator was socio demographic factors such as age, education, and employment. CONCLUSION: For promoting success in gastric cancer, screening programs, knowing barriers, and facilitators is  necessary. No signs and symptoms of disease have been shown as the major barriers toward gastric cancer screening in most studies.


Assuntos
Detecção Precoce de Câncer/psicologia , Conhecimentos, Atitudes e Prática em Saúde , Neoplasias Gástricas/diagnóstico , Neoplasias Gástricas/psicologia , Detecção Precoce de Câncer/métodos , Medo/psicologia , Humanos , Fatores Socioeconômicos
2.
J Mol Neurosci ; 69(4): 538-545, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31414351

RESUMO

Intellectual disability (ID) is characterized by limited mental ability and adaptive behavior that imposes a heavy burden on the patients' families and the health care system. This study was aimed at determining the molecular aspect of nonsyndromic ID, in a family from South Khorasan Province in Iran. Exome sequencing was performed, as well as complete clinical examinations of the family. Afterward, in silico studies have been done to examine the changes that occurred in the protein structure, in association with the ID phenotype. The PIGG (NC_000004.12) mutation was found on Chr 4:517639G>A, and this chromosomal location was proposed as the disorder-causing variant. This Arg658Gln alteration was confirmed by Sanger sequencing, using specific primers for PIGG. In conclusion, our study indicated a novel mutation in the PIGG in the affected family. This mutation is a novel variant (p. R658Q) with an autosomal recessive inheritance pattern. These findings could improve genetic counseling in the future.


Assuntos
Deficiência Intelectual/genética , Fosfotransferases (Aceptor do Grupo Álcool)/genética , Mutação Puntual , Sítios de Ligação , Feminino , Humanos , Deficiência Intelectual/patologia , Masculino , Linhagem , Fosfotransferases (Aceptor do Grupo Álcool)/química , Fosfotransferases (Aceptor do Grupo Álcool)/metabolismo , Ligação Proteica
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