HLA-linked spinocerebellar ataxia: a clinical and genetic study of large Italian kindreds.

Five families with late onset autosomal dominant spinocerebellar ataxia, were studied. Linkage between the disease and HLA loci on the short arm of chromosome 6 was shown in the two largest pedigrees. Clinical study of 26 patients and neuropathological study in one are reported. The disease was characterized by cerebellar and pyramidal involvement variably associated with cranial nerve and peripheral nervous system disorders. A remarkable concordance of the main clinical features was observed in patients with similar disease duration. Comparison with previous reports of HLA-linked spinocerebellar ataxia kindreds showed differences in clinical phenotypes. Although these might be due to genetic variation, the hypothesis is suggested that the phenotype might appear more homogeneous if disease duration is taken into account.

[Vectorcardiographic study of an unusual form of hypertrophic cardiomyopathy]. / Studio vettorcardiografico di una inusuale forma di cardiomiopatia ipertrofica.

The many aspects of heart electrical activity in hypertrophic cardiomyopathy have recently been described in numerous occasions. A vectorcardiographic study was made of two sisters with an echocardiographic diagnosis of hypertrophy of the free wall of the left ventricle. Both the ECG and the VCG shown evidence of pseudonecrosis and pseudoischaemia associated with left intraventricular conduction disturbances and left atrial dilatation. It is felt that echocardiography, and the two-dimensional examination in particular, is essential in the diagnosis of myocardial hypertrophy, but it is pointed out that ECG, and above all VCG, may sometimes indicate its site and extent with a good degree of approximation.

[Mono- and bi-dimensional echocardiographic study of a bicuspid aortic valve]. / Studio ecocardiografico mono e bidimensionale della valvola aortica bicuspide.

With M-mode echocardiography a bicuspid aortic valve can be diagnosed by its eccentric diastolic echoes, particularly when the eccentricity index exceeds 1, 3. However, many false positives and false negatives have been reported. Two-dimensional echocardiography, which identifies the commissures and the closure lines, can make the diagnosis more accurate. With this technique we studied 15 patients with a bicuspid aortic valve and 20 normal subjects. We found 3 different patterns according to the position of the closure line, which can be "horizontal", "vertical" and "oblique". Whenever the closure line is "horizontal", that is perpendicular to the direction of the ultrasonic beam, the M-mode echoes from the valve in diastole appear to be centrally located within the aortic root (false negatives). On the contrary, if the closure line is "vertical", that is parallel to the echo beam, "the echoes" are eccentric (diagnostic images). When the closure line is obliquely oriented, the ultrasonic images can be either central or eccentric. Two-dimensional echocardiography identified 5 "horizontal", 3 "vertical" and 7 "oblique" closure lines. It thus helped clarify the M-mode errors and proved to be more reliable for the diagnosis of bicuspid aortic valve.

[Echocardiographic study of hypertrophic cardiomyopathy localized in the free wall of the left ventricle]. / Studio ecocardiografico di una cardiomiopatia ipertrofica localizzata nella parete libera del ventricolo sinistro.

Previous studies have shown that the Hypertrophic Cardiomyopathy may involve the left ventricle free wall, without involving the intraventricular septum. We describe two young sisters who were suspected of having Hypertrophic Cardiomyopathy because of their family history and because of abnormal electrocardiographic findings. M-mode echocardiography showed normal ventricular septal thickness, increased thickness of the left ventricular posterior wall, decreased diastolic posterior wall velocity, normal left ventricular outflow tract. Two-dimensional echocardiography showed that hypertrophy was limited to left ventricular free wall, especially to the lateral and anterior segments. Echocardiography can thus identify unusual forms of hypertrophic cardiomyopathy.

Thermal strain measurement by one-beam laser speckle interferometry.

A method of one-beam laser speckle interferometry was applied to the measurement of transient thermal strain fields in an aluminum plate heated at a small region. A ruby pulse laser minimized the effect of thermal air turbulence on speckle correlation. High quality isothetic fringe patterns were obtained. The result compares well with available existing data.