Endocrine Abstracts

Background: AIP mutations cause sporadic and familial pituitary adenomas, but establishing the pathogenic role of missense AIP variants with unknown significance is difficult. The AIP interaction partner AHR – a xenobiotic-activated transcription factor – regulates transcription of xenobiotic-metabolising enzymes, mediates xenobiotic toxicity, and has been implicated in tumorigenesis.Aim: To describe the effect of AIP...

Background: Thyroxine-binding globulin (TBG) is the major human thyroid hormone transport protein. It is encoded by the SERPINA7 gene, located on the long arm of the X chromosome (Xq22.2). Inherited TBG abnormalities result in complete (TBG-CD) or partial (TBG-PD) TBG deficiency. We performed a comprehensive molecular analysis of the SERPINA7 gene in a Brazilian family with TBG-PD.Methods: Genomic DNA was extracted from the female proband, her father, di...

Introduction: Low-grade pituitary gliomas are extremely rare neoplasms, originating from the pituicytes of the posterior pituitary or infundibulum. The incidence of these tumors increases with age and peaks in the seventh decade of life. Gliomas are primary brain tumors of the supporting glial cells of the central nervous system, which derive from neuroglial stem cells or progenitor cells. They are responsible for nearly 30% of all primary brain tumors and 80% of all malignant...

Introduction: Primary hypobetalipoproteinemia corresponds to a series of congenital disorders that have a variable incidence from 3.2% to less than 1 in 1 million, depending on the type of genetic mutation. The diseases that comprise it occur due to different types of mutations in genes that will encode important proteins at different stages of lipid metabolism. Individuals with determinant mutations of severe phenotypes, such as Bassen-Kornzweig syndrome, as known as Abetalip...

Introduction: Prostate cancer is a public health problem worldwide. The cure is unlikely and therapeutic alternatives are limited. The Brazilian biodiversity represents a huge source of potential discovery of new drugs derived from plants. We therefore aimed to conduct a biomonitoring chemical study of plant extracts from Pouteria sp. previously shown to be cytotoxic in androgen-sensitive (LNCaP) and androgen-resistant (PC3) human prostate cancer cell lines.<p cla...

Introduction: The increasing incidence of type 1 diabetes (T1D) is a matter of concern because it negatively impacts both the quality of life and its duration, due to the great morbidity and mortality caused by its chronic complications.Objective: To evaluate clinical care provided to Brazilian youths with T1D in daily practice, according to the American Diabetes Association’s guidelines.Methods: This was a cross-sectional, mu...

Between 1970–1975 brazilian children with overweight were 8% and 11%, and obesity 2% and 3% for girls and boys, respectively. In 2008 overweight was 32% and 34%, and obesity 12% and 17% for girls and boys, respectively. In this study we have evaluated the nutritional profile of public school students in our town. A cross sectional observational study was developed in 2017. Mean height (3 determinations) was ascertained in the morning by trained physical educators in 1115 ...