Correlation between MRI findings and long-term outcome in patients with severe brain trauma.

Our aim was to relate MRI findings in patients with severe traumatic brain injury (TBI) to clinical severity and long-term outcome. We studied 37 patients with severe TBI, who were submitted to clinical assessment for disability and cognition and to MRI 60-90 days after trauma. Clinical assessment was also performed 3, 6 and 12 months later. The number and volume of lesions in various cerebral structures were calculated semiautomatically from FLAIR and fast field-echo images. Possible correlations between total and regional lesion volume and clinical deficits were then investigated. The frontal and temporal lobes were most frequently involved. Total lesion volume on FLAIR images correlated significantly with clinical outcome, whereas that on FFE images did not. Regional analysis showed that FLAIR lesion volume in the corpus callosum correlated significantly with scores on disability and cognition scales at the first clinical assessment. FLAIR lesion volume in the frontal lobes correlated significantly with clinical scores 1 year later.

Increased plasma concentration of atrial natriuretic hormone in myotonic dystrophy.

Atrial natriuretic hormone (ANH) concentrations were measured in 16 patients affected with myotonic dystrophy (MyD) undergoing 24-hour Holter ECG and in 15 age-matched normal subjects. Although the MyD patients did not show overt left ventricular function impairment, their plasma ANH levels were found to be higher (183.76 +/- 113.25 pg/ml) compared to those of the control subjects (39.73 +/- 9.95 pg/ml, p < 0.001). Nine patients with arrhythmias and some echocardiographic alterations formed subgroup A. Seven patients without cardiac alterations formed subgroup B. No significant difference in ANH emerged between the two subgroups. This evidence suggests that high plasma ANH levels in MyD cannot always be related to overt or latent heart failure and to arrhythmias.

Malignant cardiac involvement in a family with myotonic dystrophy.

BACKGROUND: In patients with myotonic dystrophy, histopathological and electrophysiologic abnormalities of cardiac conduction system may lead to sudden cardiac death due to atrioventricular block or to ventricular electrical instability. METHODS: Four members of a family affected by myotonic dystrophy are reported, which underwent a cardiological examination including invasive electrophysiological study and prolonged follow-up. Other 3 members of the same family had died suddenly. No clinical data are available for 2 of these patients, while paroxysmal atrial flutter and non sustained ventricular tachycardia had been detected at Holter in the third one. RESULTS: Signs of atrioventricular conduction impairment, poorly predictable with non invasive electrocardiography, were found in the 4 patients undergoing intracardiac electrophysiologic study. In 2/4 patients, both having dizzy spells and the most impaired atrioventricular conduction, a pace-maker was implanted. Polymorphic, non sustained ventricular response was induced in 2/4 patients, 1 of them with spontaneous high grade ventricular arrhythmias. CONCLUSIONS: The respective role of atrioventricular conduction impairment and ventricular vulnerability in determining sudden death has not been stated so far in these patients. The observed polymorphic non sustained response should not be "a priori" disregarded as aspecific, since it could be the electrophysiological counterpart of a peculiar anatomic arrhythmogenic substrate. A comprehensive study, including invasive electrophysiology, is advisable in all patients with myotonic dystrophy whenever a member of their family presents with cardiac involvement, to assess the most probable life-threatening arrhythmogenic mechanism.

Tarsal tunnel syndrome in skiers. Case report.

We describe a case of tarsal tunnel syndrome recently observed in a skier. It is the second case to be reported. Our aim is to stress the relevance of this syndrome to foot pain in these athletes.

Left ventricular myocardial function in myotonic dystrophy.

Myotonic dystrophy is an autosomal dominant disease affecting many organ systems, including the heart. Abnormalities of the cardiac conduction system are a frequent and well-documented finding in this neuromuscular disease, whereas overt signs of heart failure are rarely reported. However, controversy exists about the prevalence of preclinical left ventricular (LV) dysfunction in patients with myotonic dystrophy who have no symptoms of heart failure. To address this issue, load-independent LV function indexes were compared in patients with myotonic dystrophy and in normal subjects. LV measurements were obtained with M-mode echocardiography in 43 consecutive patients with myotonic dystrophy (mean age 35 +/- 14 years) who had no clinical evidence of heart failure, and in 35 sex- and age-matched controls. A cuff sphygmomanometer was used to determine blood pressure. No difference was found between patients and control subjects in the percentage of LV ejection fraction predicted for end-systolic stress (103 +/- 7 vs 103 +/- 7%; p = 0.97) or in the end-systolic stress/volume index ratio (2.9 +/- 0.5 vs 2.7 +/- 0.4 dyne7/cm3; p = 0.09). Similarly, no significant difference in LV myocardial function was detected between the 19 patients with a mild degree of the neuromuscular disease and in the 24 with a moderate or severe degree of the disease. Finally, LV myocardial function was compared between patients with myotonic dystrophy and atrioventricular or intraventricular conduction disturbances (n = 8) and those without these disturbances (n = 35), but no significant difference in the percentage of LV ejection fraction predicted for end-systolic stress or in the end-systolic stress/volume index ratio could be detected.(ABSTRACT TRUNCATED AT 250 WORDS)

Effect of stress on cardiovascular regulation in neurological diseases with dysautonomia.

Ten patients with Multiple Sclerosis (MS) and ten with Myotonic Dystrophy (MD) underwent an evaluation of cardiovascular reflexes by classic tests, tilt table test and mental stressors. Sympathetic and parasympathetic changes were detected by classical tests in MS patients. Mental stressors appeared able to reveal blood pressure control impairment in MD patients. Lower differential blood pressure was observed during mental stressors administration in MS with brainstem lesions at MRI.

Intellectual functions and personality in subjects with noncongenital myotonic muscular dystrophy.

Mental retardation and personality disorders are commonly described among the symptoms of myotonic dystrophy. Nevertheless, this tendency is not supported by systematic studies performed on large samples, whose results are controversial. We studied the cognitive functions and personalities of a group of 28 patients, in whom myotonic dystrophy had commenced in juvenile or adult life. The severity of the disease was variable, but all subjects were self-sufficient. Only 7.1% of subjects showed low intelligence with deterioration of perceptual-motor functions. This was not correlated with the severity of their disease. Women had a substantially lower mean Wechsler-Bellevue score than men. The personality function study of the entire group showed no change of psychiatric relevance but did present a depressive attitude with marked somatic concern and difficulties in establishing relationships in social life.

Insulin resistance in myotonic dystrophy.

The aim of the present study was to obtain a comprehensive picture of the rate of insulin secretion and of tissue sensitivity to the endogenous hormone in myotonic dystrophy patients (MyD). The minimal model approach was utilized for the analysis of frequently sampled intravenous glucose tolerance test data (FSIGT). This method provided the characteristic parameters: SI, insulin sensitivity index; SG fractional glucose disappearance independent of dynamic insulin; n, fractional insulin clearance; phi 1 and phi 2 first and second phase insulin delivery sensitivities to glucose stimulation. In MyD patients SI was reduced (p less than 0.01) by 71% to 1.4 +/- 0.3 x 10(-4) min-1/(microU/ml), whereas in controls it was 4.85 +/- 0.77; SG was within the normal range: 0.044 +/- 0.012 min-1 in MyD patients and 0.036 +/- 0.017 min-1 in controls; phi 1 increased in MyD patients (7.4 +/- 1.3 min (microU/ml)/(mg/dl) versus 4.1 +/- 1.2 in controls); phi 2 increased in MyD patients (126 +/- 47 x 10(4) min-2/(microU/ml)/(mg/dl) versus 17 +/- 6 in controls; p less than 0.05). MyD patients showed a normal tolerance with the glucose disappearance constant, KG within the normal range: 2.75 versus 2.62% min-1 in controls. In MyD patients insulin resistance was associated with a higher than normal insulin delivery for both secretory phases, although the second phase was responsible for releasing a greater amount of hormone. In conclusion MyD patients try to compensate for overall insulin resistance by a more marked pancreatic response.

Ambulatory electrocardiographic monitoring in myotonic dystrophy (Steinert's Disease). A study of 22 patients.

Ambulatory electrocardiographic monitoring (AEM) was performed in 22 patients (range 13-62 years; mean age 38.2 +/- 12.7) with grades I, II and III of myotonic dystrophy in order to evaluate the occurrence of potentially dangerous cardiac arrhythmias and conduction disturbances. All patients had previously undergone echocardiographic examination to determine whether structure and function abnormalities were present. In 6 patients with normal resting electrocardiogram, AEM revealed: first degree A-V block (4 cases), class IVa Lown ventricular arrhythmias (3 cases) and episodes of atrial fibrillation (4 cases). In 2 of 3 cases with abnormal scalar electrocardiogram new abnormalities (first degree A-V block and further prolongation of P-R interval) were demonstrated by AEM. Only 1 patient had mild signs of left ventricular dysfunction at echo. Disorders of cardiac conduction and rhythm are characteristic of myotonic dystrophy and can predispose to severe cardiac events. In this respect AEM is shown to be an early and sensitive tool in identifying patients at risk.