Search results for "HP"
showing 10 items of 1505 documents
Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing.
2017
Postzygotic activating mutations of PIK3CA cause a wide range of mosaic disorders collectively referred to as PIK3CA-related overgrowth spectrum (PROS). We describe the diagnostic yield and characteristics of PIK3CA sequencing in PROS. We performed ultradeep next-generation sequencing (NGS) of PIK3CA in various tissues from 162 patients referred to our clinical laboratory and assessed diagnostic yield by phenotype and tissue tested. We identified disease-causing mutations in 66.7% (108/162) of patients, with mutant allele levels as low as 1%. The diagnostic rate was higher (74%) in syndromic than in isolated cases (35.5%; P = 9.03 × 10−5). We identified 40 different mutations and found stro…
Phylogenetic analysis of an epidemic outbreak of acute hepatitis C in HIV-infected patients by ultra-deep pyrosequencing.
2017
Abstract Background The incidence of acute hepatitis C (AHC) among HIV-infected men who have sex with men (MSM) has increased significantly in the last 10 years. Several studies point to a social and sexual network of HIV-positive MSM that extends internationally. Objectives The aim of our study was to investigate the dynamics of HCV transmission in an outbreak of AHC in HIV-infected MSM in Barcelona by ultra-deep pyrosequencing. Study design Between 2008 and 2013, 113 cases of AHC in HIV-infected MSM were diagnosed in the Infectious Diseases Unit, Hospital Clinic, Barcelona. Massive sequencing was performed using the Roche 454 GS Junior platform. To define possible transmission networks, m…
Preimplantation genetic testing for aneuploidy in patients with partial X monosomy using their own oocytes: is this a suitable indication?
2019
Objective To describe the outcome of preimplantation genetic testing (PGT-A) using their own oocytes in patients with mosaic Turner Syndrome (MTS). The impact of the assisted reproduction technique (ART) performed (PGT-A or oocyte donation) and the type of absence of the X chromosome (total or partial) were considered. Design Retrospective observational multicenter study. Setting University-affiliated private in vitro fertilization center. Patient(s) Fifty-six patients with MTS with whom 65 ovarian stimulation cycles for PGT-A (fluorescence in situ hybridization/arrays-next generation sequencing) were performed. The study included 90 women with MTS and 20 women with pure Turner Syndrome (PT…
Polyphenolic Extract from Tarocco (Citrus sinensis L. Osbeck) Clone "Lempso" Exerts Anti-Inflammatory and Antioxidant Effects via NF-kB and Nrf-2 Act…
2018
Citrus fruits are often employed as ingredients for functional drinks. Among Citrus, the variety, “Lempso„, a typical hybrid of the Calabria region (Southern Italy), has been reported to possess superior antioxidant activity when compared to other common Citrus varieties. For these reasons, the aim of this study is to investigate in vitro the nutraceutical value of the Tarocco clone, “Lempso„, highlighting its anti-inflammatory and antioxidant potential. A post-column 2,2′-diphenyl-1-picrylhydrazyl (DPPH•) radical scavenging assay for the screening of antioxidant compounds in these complex matrices was developed. Subsequently, polyphenolic extract was tes…
Colon bioaccessibility under in vitro gastrointestinal digestion of a red cabbage extract chemically profiled through UHPLC‐Q‐Orbitrap HRMS
2020
Red cabbage is a native vegetable of the Mediterranean region that represents one of the major sources of anthocyanins. The aim of this research is to evaluate the antioxidant capability and total polyphenol content (TPC) of a red cabbage extract and to compare acquired data with those from the same extract encapsulated in an acid-resistant capsule. The extract, which was qualitatively and quantitatively profiled by UHPLC-Q-Orbitrap HRMS analysis, contained a high content of anthocyanins and phenolic acids, whereas non-anthocyanin flavonoids were the less abundant compounds. An in vitro gastrointestinal digestion system was utilized to follow the extract&rsquo
Exploring diversity and biotechnological potential of lactic acid bacteria from tocosh - traditional Peruvian fermented potatoes - by high throughput…
2018
Lactic acid bacteria (LAB) diversity associated with tocosh, Peruvian traditional fermented potatoes, was for the first time investigated by culturing and high throughput sequencing (HTS) approaches. They were applied on three samples i.e. freshly harvested potatoes, one-month and eight-months production. While by culture-dependent approach a few Lactobacillus (Lb) species (Lb. sakei, Lb. casei, Lb. farciminis, Lb. brevis, Lb. fermentum) and Leuconostoc (Ln) mesenteroides were identified, twenty-four OTUs belonging to six LAB genera were considered in tocosh samples by HTS, being Lactobacillus dominant in all three samples. LAB predominated on fresh potatoes, while Clostridium, Zymophilus a…
Recentrifuge: Robust comparative analysis and contamination removal for metagenomics
2017
Metagenomic sequencing is becoming widespread in biomedical and environmental research, and the pace is increasing even more thanks to nanopore sequencing. With a rising number of samples and data per sample, the challenge of efficiently comparing results within a specimen and between specimens arises. Reagents, laboratory, and host related contaminants complicate such analysis. Contamination is particularly critical in low microbial biomass body sites and environments, where it can comprise most of a sample if not all. Recentrifuge implements a robust method for the removal of negative-control and crossover taxa from the rest of samples. With Recentrifuge, researchers can analyze results f…
Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.
2016
BACKGROUND Molecular diagnostics in the genetic myopathies often requires testing of the largest and most complex transcript units in the human genome (DMD, TTN, NEB). Iteratively targeting single genes for sequencing has traditionally entailed high costs and long turnaround times. Exome sequencing has begun to supplant single targeted genes, but there are concerns regarding coverage and needed depth of the very large and complex genes that frequently cause myopathies. OBJECTIVE To evaluate efficiency of next-generation sequencing technologies to provide molecular diagnostics for patients with previously undiagnosed myopathies. METHODS We tested a targeted re-sequencing approach, using a 45…
Deep learning in next-generation sequencing
2020
Highlights • Machine learning increasingly important for NGS. • Deep learning can improve many NGS applications.
New 1,4-Dihydropyridines Down-regulate Nitric Oxide in Animals with Streptozotocin-induced Diabetes Mellitus and Protect Deoxyribonucleic Acid agains…
2015
Diabetes mellitus (DM) and its complications cause numerous health and social problems throughout the world. Pathogenic actions of nitric oxide (NO) are responsible to a large extent for development of complications of DM. Search for compounds regulating NO production in patients with DM is thus important for the development of pharmacological drugs. Dihydropyridines (1,4-DHPs) are prospective compounds from this point of view. The goals of this study were to study the in vivo effects of new DHPs on NO and reactive nitrogen and oxygen species production in a streptozotocin (STZ)-induced model of DM in rats and to study their ability to protect DNA against nocive action of peroxynitrite. STZ…