Search results for "PTL"

HPTLC Phenolic Profiles as Useful Tools for the Authentication of Honey

2018

The present study reveals the utility of high-performance thin-layer chromatographic (HPTLC) fingerprinting of phenolic constituents for the authentication of monofloral honeys. The obtained data enables a more complete assessment of honey quality and the identification of emerging threats to honey quality. The developed procedure facilitates differentiation of varietal honeys and detection of honey adulterations. We used an HPTLC fingerprint analysis to determine the characteristic patterns of different honey types (willow, buckwheat, heather, pine honeydew, and manuka honey). The HPTLC chromatograms were used to determine the differences in the botanical origin of the honey samples on the…

Association of Variants in the SPTLC1 Gene with Juvenile Amyotrophic Lateral Sclerosis

2021

Key Points Question What genetic variants are associated with juvenile amyotrophic lateral sclerosis (ALS)? Findings In this family-based genetic study, exome sequencing was performed in 3 patients diagnosed with juvenile ALS and failure to thrive; this identified de novo variants in SPTLC1 (p.Ala20Ser in 2 patients and p.Ser331Tyr in 1 patient). Variants in SPTLC1 are a known cause of hereditary sensory and autonomic neuropathy, type 1A, and these data extend the phenotype associated with this gene. Meaning De novo variants in the SPTLC1 gene are associated with juvenile ALS, a fatal neurological disorder.

PREVALENCE OF ANGPTL3 AND APOB GENE MUTATIONS IN SUBJECTS WITH COMBINED HYPOLIPIDEMIA

2011

Introduction. Mutations of the ANGPTL3 gene have been found responsible for a novel form of primary hypobetalipoproteinemia (pHBL), the combined hypolipidemia, characterized by low total cholesterol (TC) and low HDL-cholesterol (HDL-C) levels. The aim of this work is to define the role of ANGPTL3 gene as determinant of the combined hypolipidemia phenotype in two large cohorts of 913 American and Italian subjects with primary hypobetalipoproteinemia (TC <5th percentile). Materials and Methods. The cut-offs adopted to define the combined hypolipidemia phenotype were chosen taking into account the TC and HDL-C levels reported in the ANGPTL3 kindred described to date and are as follows: TC leve…

Identification of a novel ANGPTL3 mutation splicing associeted to severe hypobetalipoproteinemia

2012

Introduction. Primary hypobetalipoproteinemia (pHBL) is a monogenic heterogeneous condition inherited as a dominant or recessive trait characterized by total cholesterol (TC) and/or LDL cholesterol (LDL-C) and/or apolipoprotein B (APOB) levels below the 5th percentile of the reference population. Heterozygous APOB gene mutations are responsible for the majority of the dominant pHBL causing the familial hypobetalipoproteinemia (FHBL). Loss-of-function mutations in the PCSK9 gene also cause FHBL. Familial combined hypolipidemia is a recently discovered dyslipidemic phenotype characterized by low levels of TC, triglycerides (TG), LDL-C, and high-density lipoprotein cholesterol (HDL-C). The gen…

Antioxidant activity and chemical composition of three Tunisian Cistus: Cistus monspeliensis Cistus villosus and Cistus libanotis

2015

The chemical composition of three rockrose Cistus species, Cistus monspeliensis, Cistus libanotis and Cistus villosus, collected in Tunisia, was studied by HPTLC, focusing on the terpenes and phenols constituents. Diterpenes of Cistus are important as the main constituents of the leaf sticky aromatic resin, known as labdanum, which are highly appreciated in perfumery. Polyphenols in the methanolic extracts of each species were identified, quantified as total and as flavonoids and tannins, and tested for antioxidant activity. Diterpenes were evident in C. libanotis and C. monspeliensis, whereas they were practically absent in C. villosus; C. libanotis had higher phenolic amount, whereas anti…

Chromatographic Profiles of the main Secondary Metabolites in the Monarda fistulosa L. Aerial Part

2021

Two different methods of chromatographic analysis have been used in this study for the phytochemical evaluation of main secondary metabolites in the aerial part of bee balm (Monarda fistulosa L.) as the non-officinal medicinal plant of the Lamiaceae Martinov family. The high performance thin layer chromatography (HPTLC) fingerprinting method was developed for the qualitative analyses of phenolic and non-polar compounds in the bee balm herb after its maceration in the solvents of different polarity. Such polyphenols as rosmarinic, caffeic and chlorogenic acids were authentically identified in the methanol extract of herb using HPTLC. Aromatic monoterpenoid thymol was identified by the HPTLC …

HPTLC fingerprinting—rapid method for the differentiation of honeys of different botanical origin based on the composition of the lipophilic fractions

2018

Bee honey possess various nutritional and medicinal functions, which are the result of its diverse chemical composition. The numerous bioactive compounds in honey come from flower nectar

Maahanmuuttajalapset avaruusseikkailua kirjoittamassa : kirjoitusprosessin analyysi

2005

What does the translator do when she takes a moment? : scriptlog-aided analysis of long pauses and dictionary use in a translation process

2010

Käännösprosessin tutkiminen on viime vuosina siirtynyt yhä enemmän lopputekstin tutkimisesta itse prosessin eri osien ja piirteiden tutkimukseen. Tauot ovat yksi tämän prosessin eniten tutkituista piirteistä, mutta tähän asti tutkimukset ovat keskittyneet lähinnä kahden tai maksimissaan viiden sekunnin pituisten taukojen analysointiin. Tämän tutkielman tavoitteena on selvittää, millaista informaatiota käännösprosessin kulusta ja sisällöstä sekä sen kääntäjäkohtaisuudesta saadaan ottamalla tutkimuskohteeksi aiempia tutkimuksia pidemmät tauot sekä sanakirjojen käyttö käännösprosessin aikana. Tämän tutkielman aineisto kerättiin hyödyntämällä tietokoneohjelmaa nimeltä Scriptlog, joka tallentaa …

PoLA/CFPiP/PCS/PSLD/PSD/PSH guidelines on diagnosis and therapy of lipid disorders in Poland 2021

2021

Pomimo 30 lat (simwastatyna została dopuszczona w 1991 przez FDA do stosowania klinicznego [1]) starań ekspertów, towarzystw i organizacji pacjenckich zaburzenia lipidowe wciąż stanowią wyzwanie diagnostyczne, ale przede wszystkim terapeutyczne. Dotyczy to zarówno właściwej oceny ryzyka pacjentów, włączenia odpowiedniego leczenia, problemów z jego adherencją, ale także problemów z tak ważnym leczeniem niefarmakologicznym – dietą, redukcją masy ciała czy regularnym wysiłkiem fizycznym [2]. Nie można także umniejszać znaczenia inercji terapeutycznej, czy to polegającej na niewłaściwie dobranej terapii (najczęściej brakiem intensywnego leczenia statynami czy jeszcze rzadziej leczenia skojarzon…