Här är programmet med presentation av föreläsarna och abstracts.
Här är programmet med presentation av föreläsarna och abstracts.
Här är programmet med presentation av föreläsarna och abstracts.
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Professor Maurizio Luisetti<br />
Professor Robert Stockley<br />
Maurizio Luisetti<br />
Centre for Diagnosis of Inherited<br />
Alpha1-antitrypsin Deficiency.<br />
Institute of Respiratory Diseases IRCCS<br />
San Matteo Hospital<br />
Foundation University of P<strong>av</strong>ia, Italy.<br />
Maurizio Luisetti, professor of respiratory<br />
<strong>med</strong>icine (acknowledgment by<br />
University of Turin). As chief of Center<br />
for Diagnosis of Alpha1-antitrypsin<br />
deficiency, IRCCS Policlincio San Matteo,<br />
he is also an experienced teaching<br />
professor. His scientific interest<br />
specially comprises alpha1-antitrypsin<br />
deficiency, genetics of interstitial lung<br />
disease and of common COPD, pulmonary<br />
alveolar proteinosis, markers<br />
of elastin degradation.<br />
DIAGNOSTICS OF ALPHA 1<br />
-<br />
ANTITRYPSIN DEFICIENCY<br />
The laboratory diagnosis of alpha 1<br />
-antitrypsin<br />
deficiency has evolved over the<br />
last 40 years, since the first cases of<br />
the disorder were reported. It is currently<br />
perfor<strong>med</strong> in specialized centres,<br />
and it requires a combination of<br />
different bi<strong>och</strong>emical methods: nephelometric<br />
alpha 1<br />
-antitrypsin concentration,<br />
isoelectric focusing, genotyping,<br />
and sequencing. The <strong>av</strong>ailability of<br />
matrices such as the dried blood spot<br />
h<strong>av</strong>e facilitated the implementation of<br />
laboratory analyses for alpha 1<br />
-antitrypsin<br />
deficiency, but h<strong>av</strong>e also challenged<br />
laboratories to develop more reliable<br />
and reproducible techniques starting<br />
from dried blood.<br />
In this setting I will also report on<br />
the diagnostic flow charts for alpha 1<br />
-<br />
antitrypsin deficiency detection that<br />
h<strong>av</strong>e been accordingly developed.<br />
Professor Robert Stockley MD DSc FRCP<br />
Professor of Medicine Queen Elizabeth<br />
Hospital Birmingham, UK<br />
Professor Stockley has a longstanding<br />
interest in COPD with particular<br />
reference to airway inflammation,<br />
proteinases and anti-proteinases, and<br />
especially the role of the neutrophils,<br />
bacteria and exacerbations and lectures<br />
widely on these aspects.<br />
Professor Stockley organises the UK<br />
alpha-1-antitrypsin deficiency database<br />
and established the International<br />
registry for the deficiency. He is currently<br />
co-ordinating multi-centre trials<br />
of augmentation therapy and alveolar<br />
regeneration in these patients.<br />
Professor Stockley is also a frequent<br />
writer and has edited several books.<br />
He is a highly praised member of the<br />
editorial board of many journals and<br />
has supervised 35 higher degree theses<br />
in clinical and basic science.<br />
Augmentation therapy with<br />
Prolastina.<br />
EXACTLE study.<br />
Augmentation therapy for Alpha-1-antitrypsin<br />
therapy has been <strong>av</strong>ailable in<br />
several countries for over 20 years although<br />
no effectively powered efficacy<br />
trial has been perfor<strong>med</strong>. This largely<br />
relates to the large number of patients<br />
needed to complete a study powered<br />
on the FEV1. However Emphysema is<br />
best detecetd by CT scanning and this<br />
measure relates well to the symptoms<br />
and exercise capacity of the patient<br />
and is the best predictor of mortality.<br />
The EXACTLE study compared<br />
the effect of augmentation vs placebo<br />
on the progression of emphysema as<br />
quantified by CT scanning.<br />
Dr. Heinz Steveling<br />
Dr. <strong>med</strong>. Thomas Köhnlein<br />
Heinz W. Steveling<br />
Assistant <strong>med</strong>ical Director Department<br />
Pulmonology Ruhrlandklinik University<br />
Essen-Duisburg<br />
The importance of early diagnosis<br />
in alpha-1 antitrypsin<br />
deficiency and the augmentation<br />
therapy.<br />
The Alpha-l antitrypsin deficiency<br />
(A1AD) is a genetic disorder resulting<br />
in severe lung emphysema. The current<br />
explanation for this rapidly developing<br />
disease in the third or fourth life<br />
decade of a patient is the imbalance<br />
between proteases and antiproteases<br />
in lung tissue and small airways.<br />
Most of the patients are discovered<br />
by chance when their doctor thinks of<br />
this disease. The younger age, the predominance<br />
of the lower parts of the<br />
lung and a fami1y history of emphysema<br />
and unexplained liver problems<br />
are hints to this disease.<br />
The diagnosis must be confir<strong>med</strong> by<br />
measuring the level of A1A (