1,721,099 research outputs found
Identification of Novel FBN1 Mutations in Patients with Marfan Syndrome using DHPLC Analysis.
No full textIdentification of Novel FBN1 Mutations in Patients with Marfan Syndrome using DHPLC Analysis.
M. Grasso 1, S. Ansaldi 1, A. Mori 1, A. Pisani 1, L. Lanzarini 2, A. Pilotto 1,
C. Lucchelli 1, L. Tavazzi 2, E. Arbustini 1;
1 Cardiovascular Pathology and Molecular Diagnostic Lab, Transplant
Research Area, IRCCS Policlinico San Matteont, Pavia, Italy, 2
Cardiology Division, IRCCS Policlinico San Matteo, Pavia, Italy.
Marfan Syndrome (MFS, MIM#154700) is an autosomal dominant
inherited connective tissue disorder (prevalence:1/5000) caused
by mutations in the fibrillin-1 gene (FBN1, 15q21). The disorder is
characterised by highly variable phenotypic manifestations, mainly in
cardiovascular, ocular and skeletal systems. The FBN1 (230 Kb, 65
exons, 2871 amino acids) has revealed more than 500 mutations.
We describe 11 novel mutations that were identified in 12 probands
(one with sporadic and ten with familial disease). The MFS diagnosis
was evaluated following the revised diagnostic criteria of the Ghent
nosology. The FBN1 gene was analysed using DHPLC technology
(Transgenomic) and automated sequencing (ABI 3100).All family members were tested for the mutations found. These mutations were absent in 50 controls. Our results suggest that DHPLC is a reliable and cost-effective
technique for the screening of such a large gene and that FBN1 screening could be a helpful tool to confirm and possibly anticipate the clinical diagnosis in familial cases
181 QUESTIONS & ANSWERS IN HEART FAILURE Heart failure 181 Questions & Answers.
No full textOn decided to be innovative and original, and, with liberal recourses to some much-needed Italian winw, the concept of 181 Question and answers in Heart failure took shape. The idea was to write a practical book posing the questions we ask ourselvels every day in our profession, and to pool our experience to provide-preferably palatable- food for thought for today's harried cardiologist
Transient prolonged postischemic ventricular dilatation documented by 99mTc MIBI scan
No full textWe describe two cases of prolonged postischemic ventricular dilatation during myocardial scintigraphy with 99mTc MIBI, the new perfusion tracer that has only negligible redistribution. Ventricular dilatation, caused by true chamber dilatation and/or subendocardial ischemia, was still present over two hours after the induced ischemic episode, suggesting a prolonged duration of such a commonly believed fleeting scintigraphic finding
High sensivity and specificity of denaturing high performance liquid chromatography (DHPLC) for mutation analysis of the FBN1 gene in patients with Marfan syndrome.
No full textHigh sensivity and specificity of denaturing high performance liquid chromatography (DHPLC) for mutation analysis of the FBN1 gene in patients with Marfan syndrome.
A. Mori 1 , S. Ansaldi 1 , M. Grasso 1 , A. Pilotto 1 , C. Lucchelli 1 , L.
Lanzarini 2 , M. Diegoli 3 , L. Tavazzi 2 , E. Arbustini 1 ;
1 Cardiovascular Pathol. and Molec. Diagn. - Res.Transplantation
Lab. , IRCCS Policlinico S.Matteo, Pavia, Italy, 2 Cardiology Division,
IRCCS Policlinico S.Matteo, Pavia, Italy, 3 Department of Pathology
- University of Pavia, Pavia, Italy.
Marfan syndrome is an autosomal dominant inherited disorder of the
connective tissue that principally involves the cardiovascular,ocular
and skeletal systems. The incidence is estimated to be 1:5000, with
25% sporadic cases. The leading cause of death is related to the
cardiovascular involvement, in particular aortic root dilatation and
rupture.
The disease is caused by alteration in FBN1 gene (65 exons, located
at 15q15-q21.1). Causal mutations are scattered throughout the gene
and are largely unique to individual families.
The FBN1 gene was analyzed in 29 unrelated patients suspected
to be affected by Marfan syndrome. To develop an efficient and
faster method capable of identify all possible mutations in this gene,
we introduced DHPLC technology in the analysis of 25 exons in
which mutations recur. We first analysed the FBN1 exons and exon-
flanking non coding regions gene coding regions with automated
sequencing of all 65 exons (ABI PE- 373 DNA Sequencer) to
identify mutations and polymorphisms. Then, DHPLC analysis
was carried out on the WaveTM DNA Fragment Analysis System
(Transgenomic, Cheshire, UK). DNA fragment elution profiles were
displayed using the Transgenomic WAVEMAKER-TM software.
Chromatograms were analysed and amplified fragments showing
alterations were re-confirmed by automated sequencing. Overall, by
direct sequencing we indentify 19 variants (14 in coding regions and
5 in intronic sequences). A corresponding number of heteroduplex
297 profiles was detected with DHPLC with 100% correspondence to the
variant-containing regions previously identified by direct sequencing.
Our results confirms that DHPLC is a highly sensitive and specific
technology for DNA sequence variant detection
Ischemic Heart Disease. 130 Questions & Answers
No full textSeveral aspects of ischemic heart disease are treated following the format of "Question and Answer". The following topics are addressed: definition and epidemiology, diagnosis, prognosis, treatment and follow up.
The most updated knowledge is discussed using the more recent guidelines on the relevant topics as major scientific sourc
Il Ritmo della Vita
No full textIl volume prende in esame tre aspetti legati alla scoperta di una nuova corrente che partecipa al potenziale d'azione delle cellule del nodo del seno. é una corrente denominata lf e determina la frequenza cardica. La scoperta è importante per tre motivi: contribuisce alle conoscenze dell'attività elettrica del cuore; ha permesso la sintesi di un nuovo farmaco in grado di modulare la corrente lf, e quindi di avere un effetto bradicardizzante selettivo, e infine, riporpone un concetto già noto come l'importanza della frequenza cardiaca. Il volume, quindi, raconta la scoperta, analizza il meccanismo d'azione e l'efficienza clinica dell'ivabradina, il farmaco in questione, e ripropone, attraverso la storia, l'arte e la musica, la frequnza cardiaca quale orologio biologico che scandisce il ritmo della vita
ST-Segment-Elevation Myocardial Infarction. 128 Questions & Answers
No full textSeveral aspects of ST-segment elevation myocardial infarction are treated following the format of "Question and Answer". The following topics are addressed: pathophysiology and epidemiology, different clinical pfases, hospital management, complications, discharge and post-MI care and secondary prevention.
The most updated knowledge is discussed using the more recent guidelines on the relevant topics as major scientific sourc
Quantitation of exercise-rest 99mTc-MIBI uptake ratio by circumferential profiles: preliminary report.
No full text- …
