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5; p value less then 0.01). Among the proteins increased in abundance in the HA cohort were glycoprotein MUC18, ephrin type-B receptor 4, matrix remodeling-associated protein 8, angiopoietin-related protein 2, K-cadherin, and plasma protease C1 inhibitor. These proteins have been linked to the extracellular matrix, cell adhesion, and vascular remodeling and repair processes. In silico network analysis identified the regulation of coagulation, antimicrobial humoral immune responses, and the IL-12 signaling pathway as enriched GO terms. To validate links of these preliminary biomarkers and IL-12 signaling with healthy aging, clinical studies using larger cohorts and functional characterization of the genes/proteins in cellular models of aging need to be conducted.
Southeast Michigan is home to the second largest Middle Eastern and North African (MENA) US population. There is increasing interest in understanding correlates of psychosocial outcomes and health behaviors in this growing population. One potentially important health correlate is ethnic identity (EI). This paper reports the development, validity, and initial correlates of a new measure of MENA identity named the MENA-IM.
We used convenience sampling at locations frequented by individuals of MENA descent in southeast Michigan. We also measured EI centrality, religiosity, cultural mistrust, substance use, and health status to assess convergent and divergent validity. Exloratory and Confirmatory Factor Analysis identified three subscales, which were valid for both Arab and Chaldean respondents and were named (1) MENA cultural affiliation, (2) MENA media use, and (3) multicultural affiliation. We also created and tested a 20-item, single-factor version.
We obtained data from 378 adults, 73% of whom identifineral, values on the measure were associated with better psychosocial and health status. How the measure performs with MENA populations outside of Michigan and how it may relate to other health outcomes merit investigation.
Approximately 15% of colorectal cancers (CRCs) are deficient in DNA mismatch repair proteins (dMMR), a characteristic that can occur in both sporadic and hereditary CRC. Due to sparse studies on dMMR CRC in the Brazilian population, we conducted a retrospective analysis of referral rates for Genetic Cancer Risk Assessment of this population and also describing clinical and molecular characterization of these tumors.
A retrospective, longitudinal, and unicenter study that included patients with dMMR CRC detected by IHC analysis from Pathology Database of our institution, from January 2015 to July 2017.
MMR IHC testing was performed in 998 CRC tumors, and 78 tumors (7.8%) had dMMR. The mean age at diagnosis was 56.8years (17-90), and most patients were female (41 out of 78, 52.6%). Of the 52 patients with right-sided CRC, 40 tumors (77%) had loss of the MLH1 and/or PMS2 expression, and 12 tumors (23%) had loss of MSH2 and/or MSH6 expression (p = 0.005). check details From 78 patients with dMMR CRC, only 43 patients (55.1%) were referred for genetic counseling (GC), and of them, only 33 patients (76.7%) really went to GC consultation. A total of 21 patients with dMMR CRC performed genetic testing.
Overall, genetic referral was less than expected in our population. Most of dMMR CRC patients did not receive GC, even in a cancer center, either due to the absence of referral or personal decision and few patients who pursued genetic counseling performed genetic testing.
Overall, genetic referral was less than expected in our population. Most of dMMR CRC patients did not receive GC, even in a cancer center, either due to the absence of referral or personal decision and few patients who pursued genetic counseling performed genetic testing.With scientific and molecular advancements related to disease pathogenesis, advances in gene and stem cell therapies, and the promise of lucrative markets for biopharmaceutical companies, there has been a rapid expansion in the number of potential new muscular dystrophy (MD) treatments. The first champion for a newly diagnosed MD patient and their caregivers is typically an MD-specific patient advocacy group (PAG). Muscular dystrophy PAGs have been among the most active in the rare disease drug development space. Notable achievements in the last decade include promulgating the first U.S. clinical research guidance, setting up registries and natural history studies, and investing in companies-some of which have brought potentially disease-modifying products to the market. This paper will discuss five key strategies that have been successfully employed by MD PAGs to advance treatments (1) creating a national registry, (2) understanding the barriers to identifying patients with certain subtypes of muscular dystrophy to participate in clinical trials, (3) partnering with the biopharmaceutical industry, (4) collaborating with the regulators, and (5) incorporating market access and use insights early in clinical development. While clearly helpful within the MD community, these tactics could also be employed by PAGs representing other types of rare diseases.The volumetric assessment and accurate grading of meningiomas before surgery are highly relevant for therapy planning and prognosis prediction. This study was to design a deep learning algorithm and evaluate the performance in detecting meningioma lesions and grade classification. In total, 5088 patients with histopathologically confirmed meningioma were retrospectively included. The pyramid scene parsing network (PSPNet) was trained to automatically detect and delineate the meningiomas. The results were compared to manual segmentations by evaluating the mean intersection over union (mIoU). The performance of grade classification was evaluated by accuracy. For the automated detection and segmentation of meningiomas, the mean pixel accuracy, tumor accuracy, background accuracy and mIoU were 99.68%, 81.36%, 99.88% and 81.36% for all patients; 99.52%, 84.86%, 99.93% and 84.86% for grade I meningiomas; 99.57%, 80.11%, 99.92% and 80.12% for grade II meningiomas; and 99.75%, 78.40%, 99.99% and 78.40% for grade III meningiomas, respectively.