Articles: signal-transducing-adaptor-proteins.
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Background and Objectives: Chronic kidney disease (CKD) is an important public health problem associated with, e.g., progressive renal insufficiency, bone mineral disorders, and increased inflammatory marker levels. The objective of this study was to compare selected biochemical parameters and to evaluate potential correlations between selected anthropometric parameters and levels of sclerostin and interleukin 6 (IL-6) in blood plasma. Materials and Methods: The study group consisted of 34 patients aged 59.8 ± 9.8 years, receiving hemodialysis therapy. ⋯ Conclusions: Patients receiving hemodialysis replacement therapy present with significantly higher levels of IL-6 in their blood. Anthropometric parameters (body weight, BMI, and waist circumference) have no impact on sclerostin and IL-6 levels in patients undergoing hemodialysis therapy. The results obtained are satisfactory, and the research will be continued.
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J. Neuropathol. Exp. Neurol. · Dec 2019
Case ReportsGOPC-ROS1 Fusion Due to Microdeletion at 6q22 Is an Oncogenic Driver in a Subset of Pediatric Gliomas and Glioneuronal Tumors.
ROS1 is a transmembrane receptor tyrosine kinase proto-oncogene that has been shown to have rearrangements with several genes in glioblastoma and other neoplasms, including intrachromosomal fusion with GOPC due to microdeletions at 6q22.1. ROS1 fusion events are important findings in these tumors, as they are potentially targetable alterations with newer tyrosine kinase inhibitors; however, whether these tumors represent a distinct entity remains unknown. ⋯ Two of 3 tumors showed pilocytic features with focal expression of synaptophysin staining and variable high-grade histologic features; the third tumor aligned best with glioblastoma and showed no evidence of neuronal differentiation. Copy number profiling revealed chromosome 6q22 microdeletions corresponding to the GOPC-ROS1 fusion in all 3 cases and methylation profiling showed that the tumors did not cluster together as a single entity or within known methylation classes by t-Distributed Stochastic Neighbor Embedding.
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Acta clinica Croatica · Dec 2019
POSITIVE EXPRESSION OF NEDD9 IN HEAD AND NECK CANCER IS RELATED TO BETTER SURVIVAL PERIOD.
The aim was to determine immunohistochemical expression of NEDD9 protein in head and neck squamous cell carcinoma (HNSCC) and the possible relation of its expression with primary tumor size (T), regional lymph node status (N), stage of disease (TNM) and survival period. A total of 131 patients with primary tumor localization in the area of oropharynx, hypopharynx and larynx, monitored for at least 5 years after initial surgical treatment were analyzed. The study included 128 male and three female patients, median age 62.0 (range 53.0-68.0) years. ⋯ Patients with positive NEDD9 expression had a significantly higher median (IQR) survival time 51.0 (15.0-60.0) months as compared to 22.5 (9.0-55.0) months in patients with negative NEDD9 expression (p=0.048). NEDD9 negative expression, controlled for the influence of other variables included in the Cox's proportional hazards model, had a significant hazard ratio (HR) of 2.10 (95% CI: 1.23-3.58; p=0.006). The results of our study showed that NEDD9 expression might be an independent prognostic marker in patients with HNSCC regarding data on overall survival and mortality.
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Multicenter Study
Association of Genetic Variants With Primary Open-Angle Glaucoma Among Individuals With African Ancestry.
Primary open-angle glaucoma presents with increased prevalence and a higher degree of clinical severity in populations of African ancestry compared with European or Asian ancestry. Despite this, individuals of African ancestry remain understudied in genomic research for blinding disorders. ⋯ In this genome-wide association study, variants at the APBB2 locus demonstrated differential association with primary open-angle glaucoma by ancestry. If validated in additional populations this finding may have implications for risk assessment and therapeutic strategies.
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Case Reports
The clinical responses of TNIP2-ALK fusion variants to crizotinib in ALK-rearranged lung adenocarcinoma.
Anaplastic lymphoma kinase (ALK) has been proven to be another driver oncogene that accounts for 3%-7% of non-small-cell lung cancer, and it is more common in young patients and nonsmokers. ALK rearrangements have been previously identified in about 5.1% of lung adenocarcinoma, including EML4-ALK fusion variants, KIF5B-ALK and TFG-ALK. However, a TNIP2-ALK fusion has not been reported in lung adenocarcinoma. Herein, we described a rare case of ALK-rearranged lung adenocarcinoma responding to crizotinib. ⋯ This case provides valuable information on the response to crizotinib of patients with TNIP2-ALK fusion and better understanding of ALK-TKI applications in the future. NGS is a new method that can offer effective detection of gene fusion and gene mutations.