Component resolved diagnosis by recombinant allergens in patients with allergies to inhalants.

Molecular characterization of IgE reactivity of specific individual components of allergenic extracts is now possible due to the technology of recombinant allergens derived from studies of molecular biology of allergic pathology. The identification of the immunoreactivity to single allergenic components in allergic subjects allows to specifically define her/his allergic profile and obtain the so-termed Component Resolved Diagnosis (CRD). Molecular allergens can be classified into those that induce the respiratory allergic reactivity and those that identify the food-related allergic pathology. It is also essential to identify those molecular allergens whose immunoreactivity is able to connect the two clinical conditions: respiratory symptoms and food allergy symptoms. The present study was conducted on 50 patients with a clinical history of hypersensitivity to pollen and/or allergy and positivity to Skin Prick Test. The sera were analyzed in our laboratories and the panel of recombinant allergens was applied in the case of positivity of the specific IgE. Of the 50 patients enrolled, 31 were selected as positive to 4 main pan-allergen Bet v1, Par j2, Art v1 and Phl p1; among these, 14 subjects showed one allergen-specific IgE towards natural extracts of tested foods even in absence of clinical history. CRD allows for an increased accuracy in allergy diagnosis and prognosis and plays an important role in: a) resolving genuine vs cross-reactive sensitization in poly-sensitized patients, b) assessing, in selected cases, the risk of severe, systemic vs mild, local reactions in food allergy, and c) identifying patients and triggering allergens for specific immunotherapy (ITS). In light of our results, we believe that the transition from a diagnostic based on the use of allergenic extracts to another one based on the use of single allergenic molecules that is able to define the specific allergenic profile of each patient, seems to be able to revolutionize the allergy diagnosis.

Knowledge and skills needs for health professions about pharmacogenomics testing field.

BACKGROUND: Promise in the future, a disease could be ranked into genetic categories, allowing bespoke tailoring of medicine to maximize therapeutic effects and to reduce the potential for adverse drug response. This new feature requires for health professionals to have competencies not only for the basic skills of their discipline, but also for the understanding on why, when, and how that knowledge should be applied to improve personalized therapies for their patients. Current opinion on basic competences of health professions includes knowledge and skills on two fundamental features: (1) genetics of disease, to allow the understanding and the identification of diseases associated to genetic variations, and to facilitate the development of new genomic tests; and (2) ethical, social and economical implications that are fundamental to identify those factors that might contribute to a successful integration of pharmacogenomics into international health and public policy. AIM: Briefly, we described (1) current knowledge on genetic variations that interact with therapies and the need to detect them; (2) the most common available methods for detecting mutations; and (3) ethical, social and economic issues related to pharmacogenetic testing and recording of genetic information (e.g., critical evaluation of the development of new tests, privacy, the current absence of public reimbursement, etc). CONCLUSIONS: These could be useful recommendations for academic institutions and educational programs to prepare health professionals with the necessary abilities for their future practice.

Quantitative PCR detection of t(11;14) bcl-1/JH in mantle cell lymphoma patients: comparison of peripheral blood and bone marrow aspirate samples.

OBJECTIVE: Mantle cell lymphoma (MCL) is a non-Hodgkin lymphoma (NHL) featured by participation of the lymph nodes, spleen, blood and bone marrow with a short remission period to standard therapies and a median overall survival of 4-5 years. PATIENTS AND METHODS: In this study, we compare the levels of bcl-1/JH fusion products detected by q-PCR in the concurrent peripheral blood (PB) and bone marrow (BM) aspirate samples from 7 patients with MCL. RESULTS: In patients with moderate to high levels of bcl-1/JH copies, the results of q-PCR analysis of PB and BM aspirate samples correlate well. In patients with high levels of bcl-1/JH copies, instead, PB levels are a good indication of tumor burden. Finally, in patients with low levels of bcl-1/JH copies, the t(11;14) may be detected by identification of neoplastic cells. CONCLUSIONS: Our data suggest that PB can be reliably used in place of BM aspirate both for detection of translocation status during minimal residual disease monitoring and for a possible molecular relapse, especially in those patients who have moderate to high levels of bcl-1/JH copies. If these results will be confirmed on a wider number of MCL patients, future study will be required to address the issue.

[Echocardiographic study of left ventricular function using automated border detection in normal subjects]. / Studio ecocardiografico della funzione ventricolare sinistra mediante automated border detection in soggetti normali.

BACKGROUND: Two-dimensional (2D) echocardiographic automated border detection (ABD) can provide on-line measurement of left ventricular cavity area and fractional area change. However, this new quantitative method has not been extensively validated. METHODS: Values of manually traced areas on 2D-echo images were compared with those obtained from ABD in 34 consecutive normal subjects (age 16-65 years). Only subjects with more than 70% of endocardial border circumferences clearly seen in both selected imaging planes were included in the study. We evaluated left ventricular end-diastolic and end-systolic area, and fractional area change obtained from mid-left ventricular short axis and apical 4-chamber view. Left ventricular volumes (area/length method) and ejection fraction were manually calculated off-line from apical 4-chamber view. RESULTS: From the short axis view, left ventricular cavity area measurements with ABD were obtained in 85% of subjects. The values closely correlated with off-line measurements: end-diastolic area 15.6 +/- 3.1 vs 14.8 +/- 3.3 cm2, r = 0.88 SEE = 1.58; end-systolic area 7.2 +/- 1.7 vs 6.7 +/- 1.7 cm2, r = 0.88 SEE = 0.80. A good correlation was also found for the apical 4-chamber view; end-diastolic area 25.9 +/- 5.9 vs 25.3 +/- 5.5 cm2, r = 0.97 SEE = 1.36; end-systolic area 16.3 +/- 4.1 vs 15.0 +/- 3.8 cm2, r = 0.92 SEE = 1.51. In this view ABD measurements were obtained in 79% of subjects. A significant correlation was also found between the end-diastolic volume and short axis (r = 0.54, SEE = 2.63; p 0.003) and apical 4-chamber (r = 0.66, SEE = 4.51; p = 0.0002) ABD diastolic area. Similarly, the end-systolic volume was significantly correlated with short axis (r = 0.57, SEE = 1.42; p = 0.001) and apical 4-chamber (r = 0.55, SEE = 3.54; p = 0.003) ABD systolic area. However, the on-line fractional area change correlated with off-line ejection fraction better from short axis view: (r = 0.72 SEE = 3.52) than from apical 4-chamber view (r = 0.45 SEE = 6.84). CONCLUSIONS: These data indicate that: 1) left ventricular areas measured by ABD correlate well with manually measured areas and volumes; 2) short axis ABD fractional area change may be a reliable substitute of off-line manually traced ejection fraction in normal subjects.

[Evaluation of atrial septum aneurysm with transesophageal echocardiography in cardioembolic cerebral ischemia]. / Valutazione ecocardiografica transesofagea dell'aneurisma del setto interatriale nell'ischemia cerebrale cardioembolica.

The prevalence and characteristics of atrial septal aneurysm were identified by transesophageal echocardiography (TEE) in a multicenter prospective study. One hundred and seventy-seven consecutive patients were evaluated in 2 years and 2 groups were compared: Group 1, 51 patients with documented cerebral ischemia event; Group 2, 126 patients affected by cardiac disease referred for other reasons. Group 1 included patients selected among 352 patients admitted to the Neurological and Geriatric Division of our Hospital in the period of this study. Patients with stroke-related carotid lesions and patients with a negative TC scan were excluded from this study. Atrial septal aneurysm was identified in 15 patients: 8 in Group 1 (16%), and 7 in Group 2 (5%), with a significant statistical difference between the groups (p = 0.02). All patients with atrial septal aneurysm underwent before TEE transthoracic echocardiography, leading to a correct diagnosis in 10 of 15 cases (66%); all patients underwent 24-hours ECG monitoring. A right to left shunt was detected by contrast echocardiography in 9 patients, 6 in Group 1 and 3 in Group 2, (NS). A more pronounced shunt was evident in Group 1. There was no difference between the 2 groups with regard to associated cardiac disease, arrhythmias and type of atrial septal aneurysm. The thickness of the septum was greater in Group 1, with significant statistical difference (p = 0.002). It is concluded that atrial septal aneurysm, diagnosed by TEE, is a potential source of embolic events.