1,721,023 research outputs found
Il ruolo dei fattori genetici nella suscettibilità individuale all'aterosclerosi coronarica
No full textAn improved gas liquid chromatographic method for the determination of fecal neutral sterols
No full textThe analysis of fecal neutral sterols has been improved by use of a highly selective gas-liquid chromatography column packed with SP-2401. This chromatographic column allows separation of cholesterol and cholestanol and Δ5-5α plant sterol homologs without employing silver nitrate thinlayer chromatography. Furthermore, there is no need to derivatize neutral sterols before injection. The main fecal neutral sterols are well resolved; retention times are reproducible; detector response is reproducible, linear, and sensitive to 0.2 μg. This method, successfully used for fecal samples, may be suggested as a routine method for the clinical study of cholesterol metabolism
Genome wide search for linkage mapping of susceptibility genes for familial combined hyperlipidemia (FCHL)
No full textSupplemento
Analisi mutazionale dei geni ApoA1 e LPL nella dislipidemia aterogena in età pediatrica
No full textLe dislipidemie aterogene sono alterazioni del metabolismo lipidico associate ad elevato rischio cardiovascolare. Esse sono caratterizzate da bassi valori di HDL ed elevati livelli di trigliceridi, con numerosi geni potenzialmente coinvolti e dunque complessa analisi mutazionale.
In una casistica pediatrica di 55 bambini con valori di colesterolo HDL 150 mg/dL, abbiamo preliminarmente effettuato l'analisi mutazionale di 2 geni candidati, APOAI e LPL. L'analisi mutazionale è stata condotta per sequenziamento e ottimizzata utilizzando una piattaforma strumentale automatizzata in formato 96-well. Come popolazione di controllo è stata utilizzata una popolazione costituita da 174 bambini senza dislipidemia aterogena.
Nel gene APOAI sono state identificate le seguenti variazioni di sequenza: 1 nel promotore (-75G>A) e 19 introniche (8 delle quali nuove).
Nel gene LPL sono state identificate le seguenti variazioni di sequenza: 1 al 5'UTR (-281T>G), 8 esoniche tra cui 4 missenso (N291S, L 365V, D9N, S45N( nuova)) e 15 introniche. Le varianti missenso e la -281T >G erano già state precedentemente descritte associate a fenotipi iperlipidemici e bassi livelli di HDL.
La frequenza delle varianti identificate nella popolazione target è stata confrontata con quella nella popolazione di controllo mediante un saggio di single nucleotide primer extension.
Le varianti più interessanti risultano (già nel gruppo alquanto ridotto da noi esaminato) essere le seguenti: nel gene ApoAl, la -75G>A (frequenza=0.182, "odds ratio"=2.04, p=9.969); nel gene L PL, la N291S, significativamente associata al fenotipo di dislipidemia aterogena (frequenza=0.04, "odds ratio"=8.24, p=0.010) e la S447X (frequenza=0.064, "odds ratio"=0.47, p=0.081), quest'ultima descritta con un aumento di funzione della proteina, cui conseguono bassi livelli sierici di trigliceridi e diminuito rischio cardiovascolare.
L'identificazione e la caratterizzazione delle lesioni molecolari, anche estendendo I' analisi ad altri geni candidati ed ampliando la popolazione in studio, risultano indispensabili per una caratterizzazione genetica di questa sindrome
Going Beyond Counting First Authors in Author Co-citation Analysis
Full text linkThe present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation
counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings
are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that
only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into
account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed
Contribution of mutations in low density lipoprotein receptor (LDLR) and lipoprotein lipase (LPL) genes to familial combined hyperlipidemia (FCHL): A reappraisal by using a resequencing approach
No full textBackground:Defective low-density lipoprotein receptor (LDLR) and lipoprotein lipase (LPL) alleles havebeen implicated in familial combined hyperlipidemia (FCHL). However, their contribution might havebeen influenced by diagnostic criteria. This study was aimed to reassess the frequency of rare andcommon variants inLDLRandLPLin FCHL individuals classified with stringent criteria.Methods: LDLRandLPLwere resequenced in 208 FHCL and 171 controls. Variants were classified as loss-(LOF) or gain-of-function (GOF) based uponin silicoprediction, familial segregation and availablefunctional data.Results:Eight LOF variants were detected inLDLR, 6 of which were missense and 2 were predicted todisrupt normal splicing; all were present at heterozygous state. They were found in 10 FCHL but not incontrols, thus indicating that 4.8% of FCHL individuals should be reclassified as FH. LDL-C (positive) andBMI (negative) were the strongest predictors ofLDLRmutations with LDL-C 181 mg/dl being the bestthreshold for diagnosing the presence of dysfunctionalLDLRalleles. The cumulative prevalence of def-initeLPLdefective alleles (1 rare and 2 common heterozygous missense variants) was comparable be-tween FCHL and controls (10.1% vs. 10.5%). Conversely, theLPLGOF variant p.Ser474* showed a lowerfrequency in FCHL than in controls (13.5% vs. 24.0%, p1⁄40.008). Overall, LOFLPLvariants did not show aTG-modulating effect.Conclusions:Ourfindings indicate that, in well characterized FCHL individuals, variants inLDLRandLPLprovide a small contribution to this dyslipidemia, thus limiting the need for such genetic testing.©2015 Elsevier Ireland Ltd. All rights reserve
Continuous case finding of familial hypercholesterolemia (FH): screening of a cohort of italian children with hypercholesterolemia.
No full textVariations on the Author
Full text link“Variations on the Author” discusses two of Eduardo Coutinho’s recent films (Um Dia na Vida, from 2010, and Últimas Conversas, posthumously released in 2015) and their contribution to the general question of documentary authorship. The director’s filmography is characterized by a consistent yet self-effacing form of authorial self-inscription: Coutinho often features as an interviewer that rather than express opinions propels discourses; an interviewer that is good at listening. This mode of self-inscription characterizes him as an author who is not expressive but who is nonetheless markedly present on the screen. In Um Dia na Vida, however, Coutinho is completely absent form the image, while Últimas Conversas, on the contrary, includes a confessional prologue that moves the director from the margins to the center of his films. This article examines the ways in which these works stand out in the filmography of a director who offers new insights into the notion of cinematic authorship
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