Normal ultrasonic myocardial reflectivity in athletes with increased left ventricular mass. A tissue characterization study.

BACKGROUND. Ultrasonic integrated backscatter of myocardial walls is directly related to the morphometrically evaluated collagen content. The integrated backscatter is also increased in hypertrophic cardiomyopathy, probably because of fiber disarray. The purpose of this study was to investigate myocardial tissue reflectivity in subjects with physiological hypertrophy caused by intense physical training and to assess the relation between the acoustic properties of myocardial tissue and left ventricular wall thickness assessed by conventional two-dimensional echocardiography. METHODS AND RESULTS. Twenty-four young male athletes (14 professional cyclists and 10 weight lifters, all in full agonistic activity) were studied together with 10 normal age-matched controls with sedentary life. By means of a commercially available two-dimensional echocardiograph, standard measurements were obtained according to the recommendations of the American Society of Echocardiography. With a prototype implemented in our Institute, an on-line radiofrequency analysis of ultrasound signals was also performed to obtain quantitative operator-independent measurements of the integrated backscatter of the myocardial walls. The integrated values of the radiofrequency signal were normalized for the pericardial interface and expressed in percent integrated backscatter (%IB). Compared with control subjects, athletes showed greater thickness values of septum (controls, 9 +/- 1; cyclists, 14 +/- 2; weight lifters, 15 +/- 1 mm, mean +/- SD; p less than 0.01) and posterior wall (9 +/- 1, 12 +/- 2, and 12 +/- 1 mm, respectively; p less than 0.01) but similar values of %IB for both septum (23 +/- 4%, 21 +/- 7%, and 23 +/- 8%, p = NS) and posterior wall (10 +/- 2%, 9 +/- 2%, and 11 +/- 2%, p = NS). In athletes, no correlation was found between septal and posterior wall thickness and the corresponding regional myocardial reflectivity (r = 0.23, p = NS and r = 0.01, p = NS, respectively). Furthermore, we compared the quantitative ultrasonic data between two subsets of 10 athletes and 10 patients with hypertrophic cardiomyopathy and similar degrees of septal thickness (16 +/- 1 versus 17 +/- 1 mm, respectively, p = NS). Septal and posterior wall %IB results were significantly higher in patients with hypertrophic cardiomyopathy (53 +/- 13% and 36 +/- 9%, respectively) than in athletes (21 +/- 7% and 10 +/- 3%, respectively; p less than 0.01 for both). CONCLUSIONS. We conclude that 1) endurance athletes show a normal pattern of quantitatively assessed ultrasonic backscatter despite of a marked left ventricular hypertrophy and 2) athletes and patients with hypertrophic cardiomyopathy and similar degrees of myocardial wall thickness can be differentiated on the basis of quantitative analysis of backscattered signal.     

Systemic inflammatory diseases and silicone breast prostheses: report of a case of adult still disease and review of the literature

There has been a debate about the possibility of a link between silicone breast implants and the onset of systemic connective tissue diseases (eg, scleroderma, systemic lupus erythematosus, rheumatoid arthritis) and other inflammatory pathologies, such as silicone implant associated syndrome and adult Still disease. We report a case of adult Still disease in a patient with a silicone gel breast implant. The disease regressed with steroidal treatment, and the patient is now no longer steroid-dependent, although the implant is still in place.     

Ealuation of thrombolytic treatment of acute myocardial infarct using myocardial scintigraphy with Tc-99-MIBI. Immediate results and follow-up after one year

The aim of the study was to investigate Single Photon Emission Computed Tomography (SPECT) with technetium-99m esakis-2-methoxy isobutyl isonitrile (Tc-99m-MIBI) as a means of evaluating the results of intravenous thrombolytic treatment in patients with acute myocardial infarction. In addition, the evolution of myocardial perfusion pattern was studied. The study group included 15 patients (12 males and 3 females, mean age 57 +/- 8 years) with acute myocardial infarction admitted to the coronary care unit within 4 hours of the onset of symptoms. All patients were injected with 740 MBq of Tc-99m-MIBI before starting the thrombolytic therapy (rt-PA 100 mg i.v. in 3 hours); SPECT was performed 3 to 6 hours later. The tomographic study was repeated 5 days later. Ten patients were re-examined using Tc-99m-MIBI SPECT one year after the acute event. Taking into account the clinical, electrocardiographic and enzymatic data and the findings of two-dimensional echocardiography performed both on the fifth day and after one month, patients were divided into two groups: group A (8 patients) with probably effective reperfusion, group B (7 patients) probably unaffected by therapy. The infarct related vessel was patent in all group A patients and in 2 of the 7 patients of group B. The percent decrease in the perfusion defect size between the first and second scintigraphic studies showed a significant difference between the two groups: group A 61.2 +/- 6.8, group B 4.7 +/- 2.4% (p less than 0.002). A significant difference was also found when the results of the admission scintigraphy were compared with those of the control 1 year after: group A 80.8 +/- 8.7%, group B 20.8 +/- 13.8% (p less than 0.02). The percent decrease in the perfusion defect size between the 5-day and 1-year images was also significantly different in the two groups: group A 52.9 +/- 20.9%; group B 17.8 +/- 12% (p less than 0.02). The late perfusion improvement involved mainly the sub-epicardial layers. In conclusion, Single Photon Emission Computed Tomography with Tc-99m-MIBI clearly identified patients with effective reperfusion after thrombolytic treatment and distinguished them from subjects unaffected by therapy. Both, successfully and unsuccessfully treated patients showed a late perfusion improvement which was more evident in the successfully treated patients.     

A new germline RET mutation apparently devoid of transforming activity serendipitously discovered in a patient with atrophic autoimmune thyroiditis and primary ovarian failure

Gain-of-function RET mutations are responsible for multiple endocrine neoplasia syndromes (MEN) 2A and 2B and familial medullary thyroid carcinoma (FMTC), whereas loss-of-function mutations are found in Hirschsprung disease. We report a new RET point mutation [R694Q (CGG-->CAG)], serendipitously found in a 23-yr-old woman with hypothyroidism due to atrophic Hashimoto's thyroiditis and primary ovarian failure, without altered calcitonin secretion. Familial history and clinical and biochemical evaluation of first-degree relatives were negative for FMTC, MEN 2A and 2B, and Hirschsprung disease. Genetic analysis showed that the mutation was inherited from the mother, who was submitted 2 yr before to thyroidectomy for goitrous Hashimoto's thyroiditis. Histological revision and immunohistochemical studies documented normal C cell number and morphology. We cloned the mutation in an expression vector encoding a full-length RET protein. The construct was transiently expressed in 293T cells in parallel with a wild-type RET and a C634R MEN 2A-associated RET mutant. Proteins were harvested from transfected cells, and tyrosine phosphorylation levels were assayed. The mutation did not exert significant potentiating effects on RET kinase. A focus assay was also performed on NIH3T3 fibroblasts; the mutant did not exert significant transforming activity.In conclusion, a new RET mutation was found in two subjects without any evidence of MEN and FMTC. In keeping with clinical data, transfection studies confirmed lack of activating activity. This serendipitous discovery, apparently devoid of oncogenic potential, underscores the problems that may be encountered in genomic studies on RET.     

Electrophysiological responses to visuospatial regularity

Humans are quicker to detect reflectional than rotational or translational symmetry, despite the fact that these patterns are equally regular. We were interested in the neural correlates of these perceptual effects. Participants viewed random, reflection, rotation, and translation patterns while we recorded EEG from the scalp. Half the participants classified the pattern regularity overtly, the other half did not explicitly attend to pattern regularity but reported rare oddball trials, where two squares were embedded among the dots. The amplitude of a symmetry‐related ERP known as the sustained posterior negativity was most pronounced for reflection, then rotation and translation. We suggest that reflectional symmetry, despite its biological significance, may not be processed by unique visual mechanisms, but instead it could be a preferred stimulus for a more general regularity‐sensitive network in the extrastriate visual cortex.