Mutation
Mostrando 25-36 de 21608 artigos, teses e dissertações.
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25. Isolation and molecular characterization of Campylobacter jejuni from chicken and human stool samples in Egypt
Abstract Two hundred broiler chicken samples, 160 laying chicken samples and 75 human stool samples were collected in Egypt. The samples were microbiologically examined, and the C. jejuni isolates were confirmed biochemically and by PCR targeting the mapA gene of C. jejuni. The prevalence of the cadF virulence gene was then determined using PCR. A total of 1
Food Sci. Technol. Publicado em: 2021-03
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26. The effect of mutation status, pathological features and tumor location on prognosis ın patients with colorectal cancer
SUMMARY OBJECTIVE: Colorectal cancer is the most common malignancy of the gastrointestinal tract. It is the third most common tumor in both genders and the second reason of cancer-related deaths. In recent years, tumor location has gained importance as a prognostic indicator. In this study, we aimed to analyze if there was a prognostic effect of tumor locat
Rev. Assoc. Med. Bras.. Publicado em: 2021-02
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27. The BRAFV600E mutation analysis and risk stratification in papillary thyroid carcinoma
ABSTRACT Objective: Although the prognostic role of BRAFV600E mutation in papillary thyroid carcinoma (PTC) is controversial, the American Thyroid Association (ATA) includes the mutational status in their risk stratification system. To evaluate the impact of the BRAFV600E mutation status on PTC risk stratification. Subjects and methods: PTC patients attend
Arch. Endocrinol. Metab.. Publicado em: 2020-12
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28. Prevalence and clinical characteristics of X-linked hypophosphatemia in Paraná, southern Brazil
ABSTRACT Objective: The aim of this cross-sectional study was to estimate the prevalence of XLH in Paraná, a state in southern Brazil, and report the clinical features and complications of the disease. Materials and methods: We invited all endocrinologists (n = 205), nephrologists (n = 221), orthopedic surgeons (n = 1020), and pediatricians (n = 1000) in
Arch. Endocrinol. Metab.. Publicado em: 2020-12
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29. A two-year follow-up of asfotase alfa replacement in a patient with hypophosphatasia: clinical, biochemical, and radiological evaluation
SUMMARY Hypophosphatasia (HPP) is a rare disease with a high mortality rate in its severe forms. It is caused by mutations within the gene encoding the tissue-nonspecific alkaline phosphatase (TNSALP), an enzyme responsible for bone mineralization. In 2015, the Food and Drug Administration approved the use of asfotase alfa, the first medication showing benef
Arch. Endocrinol. Metab.. Publicado em: 2020-10
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30. Treatment of insomnia with repetitive transcranial magnetic stimulation (rTMS) in a patient with posttraumatic stress disorder (PTSD)
SUMMARY Hypophosphatasia (HPP) is a rare disease with a high mortality rate in its severe forms. It is caused by mutations within the gene encoding the tissue-nonspecific alkaline phosphatase (TNSALP), an enzyme responsible for bone mineralization. In 2015, the Food and Drug Administration approved the use of asfotase alfa, the first medication showing benef
Arch. Clin. Psychiatry (São Paulo). Publicado em: 2020-10
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31. Clinical and molecular profile of a Brazilian cohort of patients with classical BCR-ABL1-negative myeloproliferative neoplasms
ABSTRACT Background: The classical BCR-ABL1-negative myeloproliferative neoplasms (MPNs) are Polycythemia Vera (PV), Essential Thrombocythemia (ET) and Primary Myelofibrosis (PMF). In developing countries, there are few reports that truly reveal the clinical setting of these patients. Therefore, we aimed to characterize a single center MPN population with a
Hematol., Transfus. Cell Ther.. Publicado em: 2020-09
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32. Detection of somatic TP53 mutations and 17p deletions in patients with chronic lymphocytic leukemia: a review of the current methods
ABSTRACT Chronic lymphocytic leukemia is the most common hematologic malignancy among adults in Western countries. Several studies show that somatic mutations in the TP53 gene are present in up to 50% of patients with relapsed or refractory chronic lymphocytic leukemia. This study aims to review and compare the methods used to detect somatic TP53 mutations a
Hematol., Transfus. Cell Ther.. Publicado em: 2020-09
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33. Multidisciplinary diagnostics of chronic lymphocytic leukemia: European Research Initiative on CLL - ERIC recommendations
ABSTRACT Recent advances in chronic lymphocytic leukemia (CLL) includes description of disease genomic landscape, inclusion of prognostic relevant genetic tests in CLL workflow and evaluation of minimal residual disease (MRD)1 in parallel with the increase availability of novel therapy agents.In this review, the theoretical and practical aspects of response
Hematol., Transfus. Cell Ther.. Publicado em: 2020-09
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34. Neonatal presentation of growth hormone deficiency in CHARGE syndrome: the benefit of early treatment on long-term growth
SUMMARY CHARGE syndrome is a complex disorder involving multiple congenital anomalies and is caused by heterozygous mutations in the CHD7 gene. Growth retardation is a characteristic finding and about 10% of cases present growth hormone (GH) deficiency. GH treatment of short stature in CHARGE syndrome has shown some benefit, but normal height is rarely attai
Arch. Endocrinol. Metab.. Publicado em: 2020-08
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35. Hormone therapy after risk-reducing surgery in patients with BRCA1/BRCA2 mutation: evaluation of potential benefits and safety
RESUMO Mulheres portadoras de mutações nos genes BRCA 1 e 2 possuem risco aumentado para cânceres de ovário e mama e, portanto, são candidatas às cirurgias redutoras de risco, incluindo a salpingo-ooforectomia e a mastectomia. A salpingo-ooforectomia redutora de risco (SORR) é considerada a medida profilática mais efetiva para prevenção do câncer
Rev. Assoc. Med. Bras.. Publicado em: 2020-08
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36. EIF1AX c.338-2A>T splice site mutation in a patient with trabecular adenoma and cytological indeterminate lesion
SUMMARY The EIF1AX gene mutations have been recently associated with papillary thyroid carcinoma and anaplastic thyroid cancer. According with these reports, the gene as been considered as a drive gene for thyroid cancer development. However, the occurrence of these alterations in benign thyroid lesions is not known and is still under investigation. Some aut
Arch. Endocrinol. Metab.. Publicado em: 2020-04