Summary
Background
The inherited deficiency of C1‐inhibitor (C1‐
INH
), which can be quantitative (type I) or qualitative (type
II
), is characterized by recurrent attacks of oedema, and it is known ...as hereditary angioedema due to C1‐
INH
deficiency (
HAE
‐C1‐
INH
). The frequency of symptoms varies widely among patients and in the same patient during life.
Objective
To identify laboratory markers of disease severity in
HAE
‐C1‐
INH
patients.
Methods
We studied 162 patients with differently severe
HAE
‐C1‐
INH
during remission, 31
HAE
‐C1‐
INH
patients during attacks, and 81 normal controls, evaluating complement parameters, spontaneous plasma kallikrein activity, the capacity of plasma to inhibit exogenous kallikrein activity, and cleavage of high‐molecular‐weight kininogen (
HK
). Sixty‐five
HAE
‐C1‐
INH
patients were screened for mutations in the C1‐
INH
gene.
Results
As expected, plasma C1‐
INH
levels and activity and C4 levels were low in the
HAE
‐C1‐
INH
patients. Spontaneous plasma kallikrein activity in patients in remission was higher than in controls (
P
= 0.001) and increased during acute attacks (
P
= 0.01), whereas the capacity of inhibiting kallikrein activity was lower in patients in remission than in controls (
P
= 0.001) and further reduced during attacks (
P
= 0.001).
HAE
‐C1‐
INH
patients in remission had higher levels of cleaved
HK
than controls (
P
= 0.001), and these further increased during acute attacks (
P
= 0.001). Cleaved
HK
levels were higher in highly symptomatic
HAE
‐C1‐
INH
patients than in those with less frequent attacks (
P
= 0.001). Thirty‐five different mutations in the C1‐
INH
gene were equally distributed in patients with different attack frequencies.
Conclusions
Measuring plasma levels of cleaved
HK
may be a sensitive mean of assessing disease severity in
HAE
‐C1‐
INH
patients.
Abstract
Background
Current guidelines for AF management underline a complex approach to detecting and treating atrial fibrillation (AF). Hypertrophic cardiomyopathy (HCM) is commonly associated with ...AF.
Purpose
To assess the clinical characteristic and prognosis in patients with HCM and AF.
Methods and results
Overall, 1739 adult patients with HCM (711/40.9% female; median age at diagnosis: 55.5 years) were enrolled in the EURObservational Research Programme – Cardiomyopathy/Myocarditis Long-Term Registry. Baseline clinical characteristics and adverse cardiovascular endpoints at 1-year follow-up were analysed.
Results
At baseline, AF was found in 478 (27.5%) subjects (paroxysmal: 54.7%, persistent: 17.6%, permanent: 27.7%). Newly diagnosed AF was identified during 1-year follow-up in 48 (2.8%) subjects with HCM.
The presence of AF was associated with higher age (59.6±13.8 vs 50.8±16.1, p<0.001); BMI (27.7±5.1 vs 26.6±4.6 kg/m2, p<0.001); more advanced NYHA class (NYHA I/II and III/IV: 75.1 and 24.9 vs 86.2 and 13.8%, p<0.001); more frequent history of diabetes (14.6 vs 8.4%, p<0.001); arterial hypertension 43.4 vs 34.6%, p<0.001); renal impairment (15.4 vs 6.35%, p<0.001); and history of sustained VT (10.8 vs 6.35%, p<0.001). AF patients were characterized by lower left ventricular ejection fraction (LV EF) (59±12 vs 63±11%, P<0.001), left atrium (LA) dilatation (48.9±9.1 vs 42.4±7.7%, p<0.001), increased pulmonary artery systolic pressure (37.8±13.7 vs 29.6±12.6 mmHg, p<0.001), distribution of LV hypertrophy (p=0.032) and more advanced LV diastolic dysfunction (p<0.001).
On multivariate logistic regression analysis, independent predictors of AF in the HCM population were: age at enrolment (OR 1.068, P<0.001); LVEF (OR 0.978, p<0.001); and LA diameter (OR 1.094, p<0.001).
Oral anticoagulation (OAC) was administered in 69.5% of patients with AF (vitamin K antagonist: 48.5%; direct OAC: 21%). ICD was implanted in 26.8% in AF and 16.9% in non-AF subjects (p<0.001). PVI was performed in 9.9% of AF patients only.
The annual incidence of stroke/TIA was higher in AF than in the non-AF population (2.64 vs 0.85%, p=0.009). There was a trend towards increased death from any cause in the AF population (3.39 vs 1.74%, p=0.05). There were no differences in SCD-risk score between AF and non-AF subjects.
Conclusion
The study reveals a high prevalence of AF in patients with HCM that corresponds with more advanced symptoms, increased prevalence of comorbidities, structural and functional heart remodelling along with inadequate anticoagulation and a significant increase in the risk of stroke. The clinical characteristics of HCM-AF patients indicate that the ESC recommended complex AF approach “CC To ABC” is appropriate in this population.
Funding Acknowledgement
Type of funding sources: None.
Cardiomyopathies comprise a heterogeneous group of diseases, often of genetic origin. Genetic counselling and testing are recommended but the practices in real-life have not been evaluated.
We ...assessed the current practice of genetic counselling and testing in the prospective ESC EORP cardiomyopathy registry.
3208 adult patients from sixty-nine centres in 18 countries were enrolled. Genetic counselling was performed in 60.8% of all patients (75.4% in hypertrophic (HCM), 39.2% in dilated (DCM), 70.8% in arrhythmogenic right ventricular (ARVC) and 49.2% in restrictive cardiomyopathy (RCM), P<0.001). Comparing European geographical areas, genetic counselling was performed from 42.4% to 83.3% (P<0.001). It was provided by a cardiologist (85.3%), geneticist (15.1%), genetic counsellor (11.3%), or a nurse (7.5%), (P<0.001). Genetic testing was performed in 37.3% of all patients (48.8% in HCM, 18.6% in DCM, 55.6% % in ARVC and 43.6% in RCM, P<0.001). Index patients with genetic testing were younger at diagnosis, had more familial disease, family history of sudden cardiac death or implanted cardioverter defibrillators but less comorbidities than those not tested (P<0.001 for each comparison). At least 1 disease-causing variant was found in 41.7% of index patients with genetic testing (43.3% in HCM, 33.3% in DCM, 51.4% in ARVC and 42.9% in RCM, P=0.13).
This is the first detailed report on the real-life practice of genetic counselling and testing in cardiomyopathies in Europe. Genetic counselling and testing were performed in a substantial proportion of patients but less often than recommended by European guidelines, and much less in DCM than in HCM and ARVC, despite evidence for genetic background.
The aim of this study was to identify possible markers to distinguish differences between land animals by using the microscopic method in association with computer image analysis. For this purpose ...bone fragments from poultry and mammals were obtained and analysed by microscopic method. Through a digital camera and an image analysis software 85 bone lacunae images have been processed and elaborated in order to obtain for each lacuna a monochrome mask on which several measurements were performed. Data were analysed by ANOVA and LDA. Results obtained in the present study indicated that of 32 descriptors processed by image analysis software, only 12 were significantly (P<0.001) different between mammalian and poultry. However, when morphometric measurements were analysed by LDA, 86% of lacunae were correctly classified into the animal class of origin (i.e. mammalian as mammalian and poultry as poultry). By contrast 14% of lacunae were incorrectly classified. In conclusion, data here presented indicate that some of descriptors used by image analysis appears promising not only for a reliable distinction between the different origins of animal meal at the level of vertebrate classes, but also for further characterisation and identification of processed animal proteins in animal feeds.
Effect of milk feeding system on carcass and meat quality of Frisa Valtellinese kids [Lombardy] Piasentier, E. (Udine Univ. (Italy). Dipartimento di Scienze Animali); Volpelli, L.A. (Udine Univ. (Italy). Dipartimento di Scienze Animali); Sepulcri, A. (Udine Univ. (Italy). Dipartimento di Scienze Animali) ...
Italian journal of animal science,
01/2005, Letnik:
4, Številka:
2s
Journal Article
Recenzirano
Odprti dostop
Sixteen Frisa Valtellinese kids were fed on natural milk (N) suckled from their dams or on milk replacer (A) and slaughtered at approximately 17 kg live weight. The administration of milk replacer ...increased gross dressing percentage (45.6 vs 48.6% for N and A), as a consequence of lower gut content. The rearing system had a scarce effect on cut yield, while the carcass of A kids showed a higher fatness (fatness score: 3.5 vs 2.5 points). The most important quality traits of the meat (final pH, colour, cooking loss, shear force, proximate composition) were not modified by diet; however, the meat of naturally fed kids was richer in C18:3 and C20:5, with a more favourable ratio n-3/n-6 (0.77 vs 0.45).
Sedici capretti di razza Frisa Valtellinese sono stati allattati naturalmente (N) o con sostituto del latte (A) e macellati a circa 17 kg di peso. L´alimentazione artificiale ha prodotto un aumento della resa lorda di macellazione (45,6 vs 48,6% per N e A), a causa soprattutto del minor contenuto dell´apparato digerente. Il sistema di allattamento ha avuto una scarsa influenza sulla resa in tagli, mentre la carcassa dei capretti A ha mostrato un maggior rivestimento adiposo (stato d´ingrassamento: 3,5 vs 2,2 punti). I principali parametri di qualità della carne (pH finale, colore, perdite alla cottura, resistenza al taglio, analisi tipo) non sono stati modificati dalla dieta; tuttavia, la carne dei capretti allattati naturalmente è risultata più ricca di C18:3 e C20:5, con un più favorevole rapporto n-3/n-6 (0,77 vs 0,45)
The meetings focused on updates of the status of national collections, improved accessibility to the EPDB, the constitution of the DEPC and the opportunities within the new EU programme on genetic ...resources. At the 7th Meeting, developments since the previous meeting were also reported, and AEGIS (A European Genebank Integrated System) described.
Conservation of grapevine genetic resources is an important and long lasting task. Here, partners of the InWiGrape Activity of the European Cooperative Programme for Plant Genetic Resources have ...proposed a set of descriptors that will assist in identification, conservation and study of genetic resources of Vitis vinifera L. subsp. sylvestris. A distribution map of Vitis vinifera L. subsp. sylvestris populations in Europe was produced, with on-line access through the European Vitis Database. The several different aspects of conservation of Vitis vinifera L. subsp. sylvestris including bibliographical references, identification in the wild, in situ and ex situ conservation have been discussed. The descriptors and the map will assist different stakeholders, working on biodiversity and ecosystems in more effective conservation of wild grapevine genetic resources.
PDF
