Skin testing correlates negatively with high-activity ACP1 *B/*C genotype.

BACKGROUND: Previous studies have shown a negative association between ACP1 *B/*C genotype and total IgE level. ACP1 (acid phosphatase locus 1) is a polymorphic phosphotyrosine phosphatase that interacts with IL4-RA and is involved in T cell receptor signaling. METHODS: In the present paper, we have studied the relationship between *B/*C genotype which shows high ACP1 activity and skin testing in 300 adult subjects referred for allergic manifestations. ACP1 genotypes were determined by DNA analysis. RESULTS: There is a significant negative correlation between the intensity of skin test reaction and *B/*C genotype (p = 0.01). The proportion of *B/*C genotype is lower in allergic subjects with intense skin reaction than in allergic subjects with moderate skin reaction and in healthy controls. CONCLUSIONS: This new observation confirms by a different approach the relationship between ACP1 polymorphism and allergic manifestations, suggesting that high ACP1 activity protects against these manifestations.

Antimitochondrial autoantibodies in myocardial hypertrophy: comparison between hypertrophic cardiomyopathy, hypertensive heart disease, and athlete's heart.

Antimitochondrial autoantibodies (AMA) were tested by indirect immunofluorescence in three groups of subjects with different types of myocardial hypertrophy: 35 patients affected with hypertrophic cardiomyopathy (HC), 20 patients with cardiac hypertrophy secondary to essential hypertension, and 35 active endurance athletes with exercise-induced left ventricular hypertrophy. Forty-two healthy subjects served as a control group. Left ventricular hypertrophy was considered a left ventricular mass (LVM) echocardiographically calculated (Devereux formula), exceeding 244 gm or a LVM index exceeding 122 gm/m2 (greater than 2 SD from a previously studied normal population). AMA were found in 15 of 35 (43%) patients with HC and in 6 of 20 (30%) patients with hypertensive heart disease (p less than 0.01); in contrast, AMA were not present in the sera of athletes or in the sera of controls. Although the significance of AMA in subjects with pathologic myocardial hypertrophy has not yet been established, their absence in the sera of athletes strengthens the opinion that cellular changes, as a compensatory response of the myocardium to a work overload, have a physiologic fashion in these cases. Moreover, identification of AMA in the sera of athletes with disproportionate severe left ventricular hypertrophy of uncertain origin may be helpful to ensure a single diagnosis.

Equivocal and borderline myocardial hypertrophy in relatives of patients with hypertrophic cardiomyopathy: possible implications in genetics of the disease.

To determine the occurrence of familial and sporadic forms of hypertrophic cardiomyopathy (HC) 74 first-degree relatives of 21 patients with proven HC were studied by M-mode and two-dimensional echocardiography. A diagnosis of HC was made in 11 relatives (15%) while it was excluded in 61 of them (82%); 2 subjects (3%) were considered neither affected nor unaffected (borderline left ventricular hypertrophy suggestive of HC). Inspection of pedigrees revealed 38% of familial forms of HC with an autosomal dominant pattern of inheritance in 5/8 families (62%). Furthermore, among those relatives judged unaffected by means of full echocardiographic criteria for HC, an attempt was made to find out whether minor changes of left ventricular geometry were present for their possible implications in genetics of HC (latent or potential forms, low phenotypic expression of the disease). Eleven out of 61 unaffected relatives had a left ventricular wall thickness radius ratio greater than 0.50 (equivocal hypertrophy), a value that was higher than two standard deviations of the control group. Assessment of clinical significance of borderline and equivocal hypertrophy in relatives of patients with HC is required for a better understanding of genetic transmission of this disease. In this view the occurrence of sporadic and familial forms of HC might be revisited.

[On the genesis of the first heart sound: phono-echocardiographic study in patients with A-V block (author's transl)]. / Sulla genesi del primo tono cardiaco: studio fono-ecocardiografico in corso di blocco atrioventricolare.

A phono-echocardiographic study of acustic and morphologic events was performed in three patients with atrioventricular block in order to assess the role of the mitral valve in the changes of the amplitude of the first heart and, more generally, in the genesis of the first heart sound. Simultaneous recording of the electrocardiogram, the apical phonocardiogram and the mitral echocardiogram showed: 1) the coincidence between the C point of the echocardiogram and the onset of the earlier high frequency vibrations of the first heart sound (M1); 2) a close correlation between the intensity of the first heart sound and the position of the mitral valve at the onset of ventricular systole (P less than 0.001); 3) longer duration of the first heart sound in those beats when there was superimposition of P wave in QRS. The authors illustrate the recent reports about the genesis of the first heart sound and emphasize the main role of the mitral valve suggesting that the position of the mitral leaflets at the onset of ventricular systole influences the mechanism of acceleration and deceleration of blood and vibrations of the "cardiohemic system".