Αναζήτηση αυτού του ιστολογίου

Δευτέρα 22 Αυγούστου 2022

Integrated analysis of probability of type 2 diabetes mellitus with polymorphisms and methylation of SLC30A8 gene: a nested case-control study

alexandrossfakianakis shared this article with you from Inoreader
View on Web

Association of rare PPARGC1A variants with Parkinson’s disease risk

alexandrossfakianakis shared this article with you from Inoreader

Journal of Human Genetics, Published online: 22 August 2022; doi:10.1038/s10038-022-01074-5

Association of rare PPARGC1A variants with Parkinson's disease risk
View on Web

Cryptococcal Antigenemia in Advanced HIV: Pathophysiology, Epidemiology and Clinical Implications

alexandrossfakianakis shared this article with you from Inoreader
Abstract
Cryptococcal antigen (CrAg) is detectable in blood prior to the onset of symptomatic cryptococcal meningitis, a leading cause of death among people living with advanced HIV disease globally. Highly sensitive assays can detect CrAg in blood, and screening people living with HIV with low CD4 counts, followed by pre-emptive antifungal treatment, is recommended and widely implemented as part of a global strategy to prevent cryptococcal meningitis and end cryptococcal-related deaths. Cryptococcal antigenemia encompasses a spectrum of conditions from pre-clinical asymptomatic infection (CSF CrAg-negative), through subclinical (CSF CrAg-positive without overt meningism) to clinical symptomatic cryptococcal disease, usually manifesting as cryptococcal meningitis. This review summarizes current understanding of the pathophysiology, risk-factors for and clinical implications of cryptococcal antigenemia among people living with advanced HIV disease within t his spectrum. It also provides an update on global prevalence, recommended screening and treatment strategies, and future considerations for improving outcomes among patients with cryptococcal antigenemia.
View on Web

Docetaxel Targets Aggressive Methylation Profiles and Serves as a Radiosensitizer in High-Risk Meningiomas

alexandrossfakianakis shared this article with you from Inoreader
Abstract
Background
Meningioma is the most common primary intracranial tumor in adults. A subset of these tumors recur and invade the brain, even after surgery and radiation, resulting in significant disability. There is currently no standard-of-care chemotherapy for meningiomas. As genomic DNA methylation profiling can prognostically stratify these lesions, we sought to determine whether any existing chemotherapies might be effective against meningiomas with high-risk methylation profiles.
Methods
A previously published dataset of meningioma methylation profiles was used to screen for clinically significant CpG methylation events and associated cellular pathways. Based on these results, patient-derived meningioma cell lines were used to test candidate drugs in vitro and in vivo, including efficacy in conjunction with radiotherapy.
Results
We identi fied 981 genes for which methylation of mapped CpG sites was related to progression-free survival in meningiomas. Associated molecular pathways were cross-referenced with FDA-approved cancer drugs, which nominated Docetaxel as a promising candidate for further preclinical analyses. Docetaxel arrested growth in 17 meningioma cell sources, representing all tumor grades, with a clinically-favorable IC50 values ranging from 0.3 nM to 10.7 mM. The inhibitory effects of this medication scaled with tumor doubling time, with maximal benefit in fast-growing lesions. The combination of Docetaxel and radiation therapy increased markers of apoptosis and double-stranded DNA breaks, and extended the survival of mice engrafted with meningioma cells relative to either modality alone.
Conclusions
Global patterns of DNA methylation may be informative for the selection of chemotherapies against meningiomas, and existing drugs may enhance radiation sensitivity in high-risk cases.
View on Web

Long-term prognosis of burning mouth syndrome following treatment

alexandrossfakianakis shared this article with you from Inoreader
The purpose of this study was to evaluate the long-term prognosis of patients with burning mouth syndrome (BMS) after the termination or discontinuation of treatment and to identify the clinical characteristics that might affect that prognosis. Of 769 patients with an oral burning sensation, 202 with primary BMS who had been treated for at least 3 months were included. Among them, 28 patients who responded to the treatment and 25 patients who did not were assigned to responder and non-responder groups, respectively. (Source: International Journal of Oral and Maxillofacial Surgery)
View on Web

Effects of maxillomandibular advancement on respiratory function and facial aesthetics in obstructive sleep apnoea patients with versus without maxillomandibular deficiency

alexandrossfakianakis shared this article with you from Inoreader
The aim of this study was to compare the effects of maxillomandibular advancement (MMA) on respiratory function between obstructive sleep apnoea (OSA) patients with and without maxillomandibular deficiency, and to compare the changes in facial aesthetics after MMA between the two groups. MMA-treated patients who had both baseline and follow-up polysomnography (PSG) data and lateral cephalograms were enrolled in this retrospective study. In addition to PSG and cephalometric data, patient satisfaction with postoperative breathing and facial aesthetics, and overall satisfaction with the treatment were assessed. (Source: International Journal of Oral and Maxillofacial Surgery)
View on Web