Front Oncol
August 2024
Cancer therapy is facing increasingly significant challenges, marked by a wide range of techniques and research efforts centered around somatic mutations, precision oncology, and the vast amount of big data. Despite this abundance of information, the quest to cure cancer often seems more elusive, with the "war on cancer" yet to deliver a definitive victory. A particularly pressing issue is the development of tumor treatment resistance, highlighting the urgent need for innovative approaches.
View Article and Find Full Text PDFForensic Sci Int Genet
January 2024
Short tandem repeat (STR) markers on the X chromosome have a high potential for solving complex kinship analysis and individual identification cases. To achieve such purposes, allele and haplotype frequencies for the specific population are necessary. Nonetheless, such frequencies are not always available.
View Article and Find Full Text PDFOsteogenesis Imperfecta (OI) is a heterogeneous genetic disorder characterized by bone fragility and fracture. Mutations in 20 distinct genes can cause OI, and therefore, the genetic diagnosis of OI is frequently difficult to obtain because of the great number of genes that can be related with this disease. Studies that report the most frequently mutated genes in OI patients can help to improve molecular strategies for diagnosis of the disease.
View Article and Find Full Text PDFLate-onset Alzheimer's disease (LOAD) is a multifactorial neurodegenerative disorder that corresponds to most Alzheimer's disease (AD) cases. Inflammation is frequently related to AD, whereas microglial cells are the major phagocytes in the brain and mediate the removal of Aβ peptides. Microglial cell dsyregulation might contribute to the formation of amyloid plaques, a hallmark of AD.
View Article and Find Full Text PDFApproximately a hundred patients with terminal 10q deletions have been described. They present with a wide range of clinical features always accompanied by delayed development, intellectual disability and craniofacial dysmorphisms. Here, we report a girl and a boy with craniosynostosis, developmental delay and other congenital anomalies.
View Article and Find Full Text PDFActa Cir Bras
April 2015
Purpose: To assess the mutagenic potential of the oxygen inhalation therapy (HBO), by means of the micronucleus test, performed in peripheral blood of rats that underwent subtotal splenectomy with lower pole preservation (ESTPI), after HBO sessions or simulations.
Methods: Eighteen male Wistar rats, were distributed into three groups of six animals: group 1 - submitted to ESTPI and HBO sessions; group 2 - submitted to ESTPI and HBO simulations; group 3 - underwent cyclophosphamide administration. In groups 1 and 2, blood samples from the animals' tails were collected before surgery (T0) and immediately after the 13th HBO session or simulation (T1).
Acta Cir Bras
October 2013
Purpose: To analyze PCNA immunoexpression on the inferior pole of the spleen of splenectomized rats submitted to hyperbaric oxygenation (HBO).
Methods: Were analyzed fragments of the inferior pole of the spleen of 20 male Wistar rats submitted to splenectomy with preservation of the inferior pole. The rats were divided in two groups: group A (n=10) without HBO and group B (n=10) submitted to HBO at 2, 5 atmospheres per 120 minutes, twice a day for three days and once a day for seven days.
Background: Due to the association between the quantity of adipose tissue and concentrations of interleukin-6 (IL-6) and tumor necrosis factor (TNF-α), this work aimed to assess the effects of Roux-en-Y gastric bypass (RYGB) and sleeve gastrectomy (SG) procedures on serum IL-6 and TNF-α concentrations.
Methods: This study evaluated serum IL-6 and TNF-α levels, as well as routine anthropometric and biochemical values, before and 1 year post-bariatric surgery. Fifty percent of patients (n = 24) underwent RYGB, and 50 % (n = 24) underwent SG.
Collagen XVIII can generate two fragments, NC11-728 containing a frizzled motif which possibly acts in Wnt signaling and Endostatin, which is cleaved from the NC1 and is a potent inhibitor of angiogenesis. Collagen XVIII and Wnt signaling have recently been associated with adipogenic differentiation and obesity in some animal models, but not in humans. In the present report, we have shown that COL18A1 expression increases during human adipogenic differentiation.
View Article and Find Full Text PDFObjective: The purpose of this study was to evaluate the effect of the single nucleotide polymorphism (SNP) -634G>C at the 5' regulatory region of the vascular endothelial growth factor (VEGF) in the risk of proliferative diabetic retinopathy (PDR) in the Brazilian population of European ancestry with type 2 diabetes.
Research Design And Methods: A case-control study was conducted in 501 type 2 diabetic patients of European ancestry. Patients underwent a standardized clinical, ophthalmological, and laboratory evaluation.
Collagen XVIII, a proteoglycan, is a component of basement membranes (BMs). There are three distinct isoforms that differ only by their N-terminal, but with a specific pattern of tissue and developmental expression. Cleavage of its C-terminal produces endostatin, an inhibitor of angiogenesis.
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