Pathogenic Variant Filtering for Mitochondrial Genome Haplotype Reporting

Marshall,C.; Sturk-Andreaggi,K.; Ring,J.D.; Dür,A.; Parson,W.; Given the enhanced discriminatory power of the mitochondrial DNA (mtDNA) genome (mitogenome) over the commonly sequenced control region (CR) portion, the scientific merit of mitogenome sequencing is generally accepted. However, many laboratories remain beholden to CR sequencing due to privacy policies and legal requirements restricting the use of disease information or coding region (codR) information. In this report, we present an approach to obviate the reporting of sensitive codR data in forensic haplotypes. [Read More]

Platelet and Plasma Phosphatidylcholines as Biomarkers to Diagnose Cerebral Amyloid Angiopathy

Foidl,B.M.; Oberacher,H.; Marksteiner,J.; Humpel,C.; Alzheimer’s disease is a severe neurodegenerative brain disorder and characterized by deposition of extracellular toxic beta-amyloid (42) plaques and the formation of intracellular tau neurofibrillary tangles. In addition, beta-amyloid peptide deposits are found in the walls of small to medium blood vessels termed cerebral amyloid angiopathy (CAA). However, the pathogenesis of CAA appears to differ from that of senile plaques in several aspects. The aim of the present study was to analyze different lipids [phosphatidylcholines (PCs) and lysoPCs] in platelets and plasma of a novel mouse model of sporadic CAA (1). [Read More]

Platinum-Quality Mitogenome Haplotypes from United States Populations

Taylor,C.R.; Kiesler,K.M.; Sturk-Andreaggi,K.; Ring,J.D.; Parson,W.; Schanfield,M.; Vallone,P.M.; Marshall,C.; A total of 1327 platinum-quality mitochondrial DNA haplotypes from United States (U.S.) populations were generated using a robust, semi-automated next-generation sequencing (NGS) workflow with rigorous quality control (QC). The laboratory workflow involved long-range PCR to minimize the co-amplification of nuclear mitochondrial DNA segments (NUMTs), PCR-free library preparation to reduce amplification bias, and high-coverage Illumina MiSeq sequencing to produce an average per-sample read depth of 1000 x for low-frequency (5%) variant detection. [Read More]

Quantification of anidulafungin and micafungin in human body fluids by high performance-liquid chromatography with UV-detection

Welte,R.; Oberacher,H.; Schwarzler,B.; Joannidis,M.; Bellmann,R.; The echinocandins anidulafungin (ANID) and micafungin (MICA) are recommended for treatment of invasive Candida infections. As target-site concentrations of antimicrobial agents are crucial for eradication of pathogens, we established and validated high-performance liquid chromatography-UV detection (HPLC-UV) assays for quantification of ANID and MICA in human plasma, ascites fluid, pleural effusion, and in cerebrospinal fluid (CSF). Sample pre-purification was performed by protein precipitation with acetonitrile followed by solid phase extraction. [Read More]

Spatio-temporal assessment of illicit drug use at large scale: evidence from 7 years of international wastewater monitoring

Gonzalez-Marino,I.; Baz-Lomba,J.A.; Alygizakis,N.A.; Andres-Costa,M.J.; Bade,R.; Bannwarth,A.; Barron,L.P.; Been,F.; Benaglia,L.; Berset,J.D.; Bijlsma,L.; Bodik,I.; Brenner,A.; Brock,A.L.; Burgard,D.A.; Castrignano,E.; Celma,A.; Christophoridis,C.E.; Covaci,A.; Delemont,O.; deVoogt,P.; Devault,D.A.; Dias,M.J.; Emke,E.; Esseiva,P.; Fatta-Kassinos,D.; Fedorova,G.; Fytianos,K.; Gerber,C.; Grabic,R.; Gracia-Lor,E.; Gruner,S.; Gunnar,T.; Hapeshi,E.; Heath,E.; Helm,B.; Hernandez,F.; Kankaanpaa,A.; Karolak,S.; Kasprzyk-Hordern,B.; Krizman-Matasic,I.; Lai,F.Y.; Lechowicz,W.; Lopes,A.; LopezdeAlda,M.; Lopez-Garcia,E.; Love,A.S.C.; Mastroianni,N.; McEneff,G.L.; Montes,R.; Munro,K.; Nefau,T.; Oberacher,H.; O’Brien,J.W.; Oertel,R.; Olafsdottir,K.; Pico,Y.; Plosz,B.G.; Polesel,F.; Postigo,C.; Quintana,J.B.; Ramin,P.; Reid,M.J.; Rice,J.; Rodil,R.; Salgueiro-Gonzalez,N.; Schubert,S.; Senta,I.; Simoes,S.M.; Sremacki,M.M.; Styszko,K. [Read More]