SOD1 p.D12Y variant is associated with amyotrophic lateral sclerosis/distal myopathy spectrum.

BACKGROUND AND PURPOSE: The aim of our study was to describe patients with the p.D12Y variant (previously reported as D11Y) in SOD1 showing heterogeneous clinicopathological features. METHODS: We performed clinical, electrophysiological, magnetic resonance imaging (MRI) and muscle pathology studies in four SOD1 p.D12Y variant-positive patients. RESULTS: The SOD1 p.D12Y clinical manifestations ranged from a benign phenotype characterized by distal distribution of muscular weakness and long survival to classic forms of amyotrophic lateral sclerosis with poor prognosis. Two patients with the distal clinical phenotype showed MRI and muscle pathology alterations indicating a concurrent muscle involvement. In one of these patients significant myopathic changes were associated with rimmed vacuolar pathology. CONCLUSIONS: We expand the clinical spectrum of SOD1 p.D12Y variant, including predominant lower motor neuron forms with long survival and classic forms with aggressive course. Some patients may have concomitant distal myopathy without other explanations. Given clinical, MRI and muscle pathology alterations, SOD1 should be considered in the differential diagnosis of molecularly undefined distal myopathies with rimmed vacuoles.

Iloprost administration in acrodermatitis of Hallopeau complicated by acquired toes syndactyly: a case report and review of the literature.

OBJECTIVE: Acrodermatitis Continua of Hallopeau (ACH) is a variant of pustular psoriasis often very difficult to treat. Secondary syndactyly, also called "pseudosyndactyly", is rare and can be a complication of burns, dystrophic epidermolysis bullosa or trauma. If left untreated, joint complications and definitive functional impairments may occur. CASE REPORT: We report a case of a 74-year-old man with acrodermatitis continua of Hallopeau involving the toes and complicated by syndactyly. ACH regression following Iloprost administration was also observed. DISCUSSION: Published studies are mainly limited to case reports only, due to the rarity of the disease. Therefore, there are no clear-cut therapeutic management guidelines available for this chronic and sometimes debilitating disease. ACH is often recalcitrant to the available therapies. Topical and systemic treatments have been described in literature with no long-lasting results. CONCLUSIONS: To our knowledge, this is the first report of foot syndactyly associated to ACH. In our patient, ACH symptoms regressed with Iloprost administration: this finding has never been previously described in literature. If confirmed by other clinical experiences, Iloprost could be a further therapeutic option in ACH.

Post-occupational health surveillance of asbestos workers.

BACKGROUND: Italian law requires an extensive health surveillance of workers after cessation of their employment status in the case of occupational exposure to carcinogens, including asbestos. Nonetheless, Italian law does not specify the timeframe of these clinical checks, nor who has financial and organizational responsibility for this surveillance. A literature search confirmed a lack of consensus around the objectives and methods to follow up workers with past occupational exposure to asbestos. OBJECTIVES: To develop an updated evidence-based methodology for an appropriate health surveillance programme. METHODS: We present an overview of the field experience developed by the Veneto Region from 2000 to 2011, and new studies that could contribute to establishing a national policy for the medical surveillance of workers with past asbestos exposure. RESULTS: There were three specific topics: (1) definition of a reliable method to identify asbestos workers (through multiple sources and procedures that meet current confidentiality regulations); (2) detection of asbestos fibres in biological media (to support the etiological diagnosis of asbestos-related diseases); (3) creation of a national protocol of health surveillance (through the assessment of policies developed by other Regions in this field, and recruiting from these regions a cohort of past-exposed workers: the epidemiological study should offer relevant suggestions for specific surveillance approaches, based on either estimated cumulative asbestos exposure or detection of x-ray patterns of pleural plaques and/or asbestosis). CONCLUSIONS: These studies will support the Regions in setting up health care policies directed at workers with past asbestos exposure.

D11Y SOD1 mutation and benign ALS: a consistent genotype-phenotype correlation.

We describe three sporadic ALS patients in which a D11Y SOD1 mutation was detected. All three patients disclosed a prolonged survival and a stereotypical distal limbs involvement in the initial stages of the disease. By this report we demonstrate that D11Y SOD1 mutation is associated with a peculiar phenotype and we confirm its probable pathogenetic role.

[Obesity and Eating Disorders. Indications for the different levels of care. An Italian Expert Consensus Document]. / Documento di Consensus. Obesità e Disturbi dell'Alimentazione Indicazioni per i diversi livelli di trattamento.

This paper is an Italian Expert Consensus Document on multidimensional treatment of obesity and eating disorders. The Document is based on a wide survey of expert opinion. It presents, in particular, considerations regarding how clinicians go about choosing the most appropriate site of treatment for a given patient suffering from obesity and/or eating disorders: outpatient, partial hospitalization, residential rehabilitation centre, inpatient hospitalization. In a majority of instances obesity and eating disorders are long-term diseases and require a multiprofessional team-approach. In determining an initial level of care or a change to a different level of care, it is essential to consider together the overall physical condition, medical complications, disabilities, psychiatric comorbidity, psychology, behaviour, family, social resources, environment, and available services. We first created a review manuscript, a skeleton algorithm and two rating scales, based on the published guidelines and the existing research literature. As the second point we highlighted a number of clinical questions that had to be addressed in the specific context of our National Health Service and available specialized care units. Then we submitted eleven progressive revisions of the Document to the experts up to the final synthesis that was approved by the group. Of course, from point to point, some of the individual experts would differ with the consensus view. The document can be viewed as an expert consultation and the clinical judgement must always be tailored to the particular needs of each clinical situation. We will continue to revise the Document periodically based on new research information and on reassessment of expert opinion to keep it up-to-date. The Document was not financially sponsored.

[Feasibility of a screening programme for lung cancer among workers previously heavily exposed to asbestos]. / Valutazione di un programma per la diagnosi precoce di cancro polmonare negli ex esposti ad asbesto.

BACKGROUND: We evaluated the feasibility and costs of a screening programme with spiral CT for the early diagnosis of lung cancer among workers previously heavily exposed to asbestos. METHODS: We invited 2000 workers, 1165 (58%) of whom accepted. Women and individuals with incomplete information were excluded; 1119 subjects (mean age, 57 years) entered the main analysis. Subjects with non-calcified lung nodules and/or dubious pleural plagues (No=338) entered a post-screening diagnostic protocol based on radiological follow-up. RESULTS: Twenty-five biopsies were performed (13 pulmonary, 9 pleural, 3 combined) revealed 5 cases of lung cancer (including 1 in stage IA). The positive predictive value of the screening test was low (31%) despite its known high sensitivity (100%) and specificity (99%). Incidence of lung cancer was similar to that registered among male residents of the Veneto Region aged 55 to 59 years. The cost of the programme was Euro 1,000 per screened subject and Euro 245,000 per diagnosis (total cost, Euro 1,181,310). The total radiation dose administered to healthy subjects was about 1,100 mSv (220 mSv per lung cancer diagnosis). CONCLUSIONS: This screening programme was ineffective due to the low participation rate, the small number of diagnoses, low predictive value, and high costs.

[Working and health conditions and preventive measures in a random sample of 5000 workers in the Veneto Region examined by telephone interview]. / Condizioni di lavoro e di salute e attività di prevenzione in un campione di 5000 lavoratori del veneto esaminati con questionario mediante intervista telefonica.

BACKGROUND: A survey was carried out in 2000 by the European Foundation for the Improvement of Living and Working Conditions in a random sample of workers from 15 countries of the European Union in order to obtain information on occupational exposure, health problems and preventive measures taken at the workplaces. OBJECTIVES: To obtain similar information in workers in the Veneto Region and compare the results with those of the third European Survey on Working Conditions (ESWC). The results of the survey on Veneto Region workers were further analyzed, investigating the distribution by risk factors in each work sector, and the association between risk factors and reported health problems. METHODS: The ESWC questionnaire was adapted to the requirements of a telephone interview and a sample of 5000 workers (size based on the budget) between 15 and 64 years of age was randomly extracted from the regional list of telephone subscribers. The questionnaire was administered by trained interviewers. No statistical tests were used in the comparison between ESWC and Veneto Region results due to the lack of a priori hypotheses. Odds ratio (OR) was calculated in estimating the association between risk factors and symptoms; and p-value for OR trend across the increasing level of exposure was also obtained. RESULTS: Workers reported to be exposed for more than a quarter of their work time to: vibrations (20%), noise (19%), dusts, fumes vapours, chemicals (18%), repetitive hand/arm movements (50%), tiring/painful positions (46%); working at very high speed or tight deadlines (60%). 54.4% of the subjects reported working with computers. Taking as a reference the third ESWC in 2000, among Veneto Region workers in 2005 exposure was lower as regards physical, chemical and ergonomic risk factors, and similar as regards working at very high speed. The more frequently reported work-related health problems were: stress (26.9%), backache (17.8%), overall fatigue (11.9%), muscular pains in upper limbs (6.8%), headache (6.1%), sight problems (5.4%), anxiety (5.5%), muscular pain in lower limbs (4.3%), irritability (4.0%), hearing problems (2.3%). Except for stress, all symptoms/health problems were two-three times more frequently reported in the ESWC than in the Veneto Region survey where, conversely, the number of persons with at least one new sick- leave spell was higher. Lastly, there was no difference as regards preventive measures taken at the workplace: information on risks (78.2%), wearing personal protective equipment (28.7%), training paid by employer (28.7%). Among the Veneto Region workers, the most often reported risk factors were exposure to physical and chemical risk factors in industry/agriculture, and shift-work and working at very high speed in the services. The most commonly adopted preventive measures were information on risks and wearing of personal protective equipment in industry, and training in services. Moreover, among the Veneto Region workers, a significant exposure-dependent increase was reported for respiratory problems, allergies, dermatitis, hearing loss, accidents, back pain, pain in the upper and lower limbs, and headache. The risk of stress, anxiety, sleeping problems, stomach pain and headache increased when skills were not adequate to cope with job demand. In contrast, the perception of improved health conditions increased with increasing skill discretion, decision authority, social support (which are dimensions of control of job demand), but not with information on risk, training, or use of personal protective equipment. CONCLUSIONS: Data from the present survey provide useful insights on working and health conditions of workers in the Veneto Region, revealing problems that were subsequently investigated using other sources of information, as reported in the studies published elsewhere in this volume.

[Comparison of four measurements of sickness absence in workers in the Veneto Region: interpretation and applicability. Data from Italian National Social Security Institute, 1997-2002]. / Quattro misure di assenze dal lavoro per malattia nei lavoratori del veneto, dati INPS 1997-2002: interpretazione dei risultati e applicabilità.

BACKGROUND: In 2005, 52% of workers in the Veneto Region reported one or more sick leave spells in the previous 12 months, compared with 16% reported in the European Survey on Working Condition in 2000 (ESWC), although health conditions were better in the Veneto Region than in the ESWC. OBJECTIVES: Since the above findings were based on answers to a questionnaire, we used an objective source of information in order to further investigate the problem. METHODS: The source of data consisted of the sick leave records of workers in the Veneto Region, 1997-2002, which were obtained from the Italian National Social Security Institute (INPS). Four measurements were used: (1) frequency = number of sick-leave spells during the study period/number of insured persons at risk for sickness absence during the study period; (2) cumulative incidence = number of persons with at least one new sick-leave spell during the study period/number of insured persons at risk for sickness absence during the study period; (3) sick-leave rate = number of sick-leave days during the study period/number of insured persons at risk for sickness absence during the study period; (4) duration of absence = number of sick-leave days in new sick leave spells during the study period/number of new sick-leave spells during the study period. Cumulative incidence could only be analyzed by statistical methods (binomial regression). RESULTS: The first three measurements gave overlapping results. The values were highest in industry, lowest in agriculture, and intermediate in crafts and services; they were highest in middle-aged subjects and lowest in younger and older individuals; the time trend increased up to 1999 and then decreased slowly. Cumulative incidence was 52.0%, 38.0%, 36.4% and 22.9%, in industry, services, crafts, and agriculture, respectively, and 42.8% in the total population. The results of binomial regression confirmed the above pattern, as well as an excess in women, in white collar workers, and in various occupational categories which, however, were probably not due to occupational exposures since in each occupational category the risk was always higher in industry than in crafts. By contrast, the sick-leave rate was higher in crafts and agriculture and lower in services and industry; it increased exponentially with age and did not show real differences between males and females. CONCLUSIONS: The choice of measurements influences the results; duration of absence could be used to detect areas of suspected work-related diseases, while cumulative incidence might be more helpful to detect areas of suspected absenteeism/presenteeism.

[Occupational injuries and sickness absence: association with job demand, decision latitude, and life style in 2174 workers in the Veneto Region]. / Infortuni sul lavoro e assenze dal lavoro per malattia: associazioni con carico lavorativo, autonomia decisionale e stili di vita in 2174 lavoratori del veneto.

BACKGROUND: Stress was the most frequent (26,9%) health problem reported in a survey on the perception of working and health conditions in 5000 workers in the Veneto Region. OBJECTIVES: The aim of the study was to investigate in the Veneto Region the association between occupational stress and events occurred in the previous 12 months: occupational accidents, or sickness absence for 10 or more consecutive days. METHODS: Perceived occupational stress is correlated, according to Karasek's model, to high job demand (JD) and low decision latitude (DL). Using Karasek's questionnaire (to which questions on smoking and alcohol consumption were added), we examined 2174 subjects working in 30 companies with between 10 and 500 employees, who belonged to the occupational categories of industry and services that are more prevalent in the Veneto Region. The questionnaire was administered by the occupational physician during health surveillance. The subjects were classified on the basis of current exposure to psychosocial factors or, for subjects reporting an event, their exposure at that time. We identified the tertiles of JD and DL; data were submitted to the analysis of multiple logistic regression, estimating odds ratio (OR) and 95% confidence interval (CI). The population attributable risk (PAR) was calculated using the formula (pc (OR-1)/OR), where pc is the fraction of exposed cases. RESULTS: An elevated risk of occupational accidents was found in subjects with regular consumption of alcohol (OR = 2.0; IC = 1.2-3.5), in smokers smoking 10-20 (2.3; 1.3-3.8) or >20 cigarettes/day (3.8; 1.8-7.9), in the highest tertile of JD (2.29; 1.35-3.89) and in the lowest tertile of DL (1.6; 1.0-2.6). PAR was 37.6% for occupational factors (high JD and low DL), 44.5%for non-occupational factors (cigarette smoking and alcohol consumption), and 82.1% overall. The risk of sickness absence increased in subjects smoking 10-20 cigarettes (1.63 = 1.1-2.40), in the highest tertile of JD (1.5; 1.0-2.2) and in the lowest tertile of DL (1.6; 1.1-2.2). PAR was 26.1% for occupational factors (high JD and low DL), 7.6% for non-occupational factors (smoking), and 30.4% overall. While the risk of sick absence increased mainly with the reduction of DL, the risk of occupational accidents increased with increasing JD and, to a lesser extent, with decreasing DL. The current approach to accident prevention is based only on technical and administrative aspects, in spite of the fact that 80% of accidents are not attributable to malfunctioning of machinery. Injury prevention should address technical, personal and psychosocial risk factors together as a whole.

[Association between causes of lNPS compensated disability and occupational category (Veneto Region, 1994-2002): a surveillance method for occupational diseases?]. / Associazione tra causa di invalidita pensionabile INPS e comparto lavorativo (Veneto, 1994-2002): un metodo di sorveglianza delle malattie professionali?

BACKGROUND: According to Italian law, workers are insured against disability through the National Social Security Institute (INPS), whose records contain information on diseases causing disability and occupational histories. OBJECTIVES: Using the INPS data, our objective was to identify any excess risk of disabling diseases in relation to the occupational categories. METHODS: Insurance covers all private sector employees, a small proportion of public sector employees, agricultural labourers, domestic workers, self-employed workers (craftsmen, commercial dealers,farmers), and few other occupational categories. For each insured worker, a database was created containing registry data, occupational history and, for compensated workers, the disease code, for each year from 1994 to 2002. A cohort study design was adopted, in which references were self-employed workers (with mixed exposure) to whom different categories of employees in agriculture, industry, crafts, and services were compared. Data were analyzed by means of Poisson regression, estimating the Incidence Rate Ratio (IRR) and confidence interval (CI) at 99.99%, instead of 95%, in order to set the threshold of error for the entire study at 0.05. RESULTS: In the construction industry there were significantly high risks of disability in both industry and crafts for tumours (industry: IRR = 2.07; IC = 1. 67-2.57; crafts: 2.57; 1.89-3.18), circulatory disorders (industry: IRR = 2.24; IC = 1.65-3.04; crafts.: 3.06; 2.16-4.32), and bone and joint diseases (industry. IRR = 5.0; IC = 3.15-7.94; crafts: 6.58; 5.04-8.59). CONCLUSIONS: The advantage of this approach is to recruit a large number of subjects at limited cost. The procedure here proposed is a mainly exploratory approach aimed at establishing new study hypotheses: disability, in fact, is acknowledged by INPS when its cause is not occupational according to the current literature.

[Safety and health in workers employed in industry. Data from Industrial Accidents Compensation Board (INAIL) and National Social Security Institute (INPS), Veneto Region, 1994-2002]. / Sicurezza e salute dei lavoratori dell'Industria attraverso i dati INAIL e INPS, Veneto, 1994-2002.

BACKGROUND: A decreasing time trend for occupational injuries and sickness absence would be the effect of the new legislation (D.Lgs. 626/94 and successive laws) on prevention in occupational settings. Conversely, the reduction of INPS disability would reflect a health improvement due to non-occupational causes. OBJECTIVES: The aim of the study was to investigate the efficacy of the new legislation among employees in industry (where the law was mainly applied), via the time trend of three standardized rates in the Veneto Region. METHODS: The numerator for the rate of occupational accidents (cases occurring in industry workers in the Veneto Region, broken down for sex, age and calendar years) was supplied by INAIL. The denominator for the above rate, as well as numerators and denominators for disability and sickness absence were supplied by INPS. Data were available from 1994 to 2002 for accidents and disability, and from 1997 to 2002 for sickness absence. In every year from 1994 to 2002, the rates were standardized for age and sex with the direct method, using an internal "standard" population. The time trend of year-specific standardized rates was analyzed by Joinpoint regression software. RESULTS: Among industrial workers in the Veneto Region, occupational accidents increased by 0.4% yearly, while disability decreased by 2.56% from 1994 to 2002. Sick absence increased up to 1999, then decreased. CONCLUSIONS: This epidemiological pattern is difficult to explain. The increase in accidents could be due to the increase of non-European Union workers and/or to the fact that accidents on the way to or from work were recognized as occupational accidents by INAIL starting from 2000. Both these phenomena could have contributed to increase the rate that was otherwise diminishing. On the other hand, this same situation could be due to insufficient efficacy of the legislation (D.Lgs. 626/94 and successive laws) for preventing occupational accidents and diseases.

[A procedure for estimating the rate of occupational accidents in non-European-Union workers with irregular immigrant status]. / Una procedura per la stima del tasso di infortunio nei lavoratori extracomunitari irregolari.

BACKGROUND: Statistics on occupational accidents provided by the Italian Institute for Occupational Diseases and Accidents (INAIL, Italian acronym) include only events that occurred in workers with regular employment status. OBJECTIVES: The aim of the study was to establish a procedure in order to estimate the rate of occupational accidents in non-European-Union (non-EU) workers with irregular employment status and/or irregular immigrant status. METHODS: The sources of data were the clinical records of the Emergency Department of San Bonifacio Hospital, and the population data of District 4 of Local Health Authority 20 of Verona, which was considered the catchment area of this hospital. RESULTS: Among 419 cases of accidents occurred in the numerator of the rate. The denominator of the rate was estimated by calculating: (1) the subjects of working age resident in District 4 (= 83714); (2) the total number of non-EU workers, assuming that the percentage was similar to that in San Bonifacio Municipality (= 0.115); the number of irregular non-EU workers, assuming that the percentage was similar to that in north-eastern Italy (= 0.103). Non-EU workers with irregular employment status and/or irregular immigrant status should, according to these calculations, be 992 (= 83714 x 0.115 x 0.103). The rate--147.2 (= 146/992) occupational accidents per 1000 irregular non-EU workers--is more than twice as high as that calculated in 2004 in Italy in regular non-EU workers (approximately 65 accidents per 1000). The difference can be explained by the fact that irregular workers find employment mainly in agriculture, building and the metallurgic industry, which have a high frequency of accidents, and are more willing to accept risky work and longer work shifts. CONCLUSIONS: On the assumption that the rate of occupational accidents in the 500,000 irregular workers living in Italy in 2004 was 147.2 per 1000 (as in the catchment area of the San Bonifacio Hospital), the number of accidents would be 73,600, against the 116,000 that occurred among regular non-EU workers in 2004 according to INAIL. Official INAIL statistics on occupational accidents therefore show a considerable underestimation.

Expression and heterodimer-binding activity of Ku70 and Ku80 in human non-melanoma skin cancer.

BACKGROUND: Experimental data suggest that exposure to ultraviolet radiation may indirectly induce DNA double-strand breaks. AIM: To investigate the contribution of the non-homologous end-joining repair pathway in basal and squamous cell carcinomas. METHODS: Levels of Ku70 and Ku80 proteins were determined by immunohistochemical analysis and Ku70-Ku80 heterodimer-binding activity by electrophoretic mobility shift assay. Matched pathological normal margins and skin from healthy people were used as controls. RESULTS: A significant increase in Ku70 and Ku80 protein levels was found for both tumour types as compared with normal skin (p<0.001). Squamous cell carcinoma showed increased immunostaining as compared with basal cell tumours (p<0.02). A direct correlation was found between Ku70 and Ku80 protein levels and expression of the proliferation markers Ki-67/MIB-1 (p<0.02 and p<0.002, respectively) in basal cell carcinoma. DNA binding activity was increased in basal cell carcinoma samples as compared with matched skin histopathologically negative for cancer (p<0.006). In squamous cell carcinomas, however, the difference was significant only with normal skin (p<0.02) and not with matched pathologically normal margins. CONCLUSIONS: Overall, an up regulation of the Ku70 and Ku80 protein levels seems to correlate only with tumour proliferation rate. As non-homologous end joining is an error-prone mechanism, its up regulation may ultimately increase genomic instability, contributing to tumour progression.

Cutaneous lymphoadenoma: a rare clinicopathological entity.

Cutaneous Lymphadenoma (Benign Lymphoepithelial tumour of the skin) is a rare tumour, with distinctive clinical and histological features. To date, very few cases of this entity have been reported. We present a case of cutaneous lymphoadenoma in a 52-year-old man and a short review of the literature, summarizing the principal clinical and morphological characteristics of this rare tumour.

Gynecomastia and the complete circumareolar approach in the surgical management of skin redundancy.

Gynecomastia is a benign enlargement of the male breast due to a physiological or pathological factor that interferes with the balance between estrogens and androgens in the serum. Gynecomastia itself requires no treatment unless the persistent enlargement of the male breast is a source of embarrassment and/or distress for the adolescent or adult man. The indications for the surgical treatment of gynecomastia are founded on two main objectives: (1) the restoration of male chest shape and (2) diagnostic evaluation of suspected breast lesions. The diagnostic evaluation begins with an adequate history and a thorough breast examination helped by laboratory tests and instrumental research. Several approaches for surgical treatment have been described in the literature. Some problems arise in patients who have significant enlargement and ptosis of the breast that will require skin reduction and in some patients requiring nipple-areola complex reduction. The authors believe that the complete circumareolar technique with purse-string suture creates the best aesthetic results, with fewer complications, in patients with moderate and severe ptotic glandular breast enlargements that have skin redundancy combined with areolar enlargement. From 1995 through 1999, a total of 10 male patients with moderate to severe gynecomastia were treated surgically using a complete circumareolar approach. All patients achieved a good aesthetic contour of the chest. Only two patients required a revision of the circumareolar scar to correct postoperative enlargement.

[Anatomo-functional study of non-rheumatic mitral insufficiency with transesophageal echocardiography]. / Studio anatomo-funzionale dell'insufficienza mitralica non reumatica con ecocardiografia transesofagea.

Reconstruction surgery of the mitral valve has become an alternative to mitral replacement in patients with pure mitral regurgitation. Preoperative assessment of the anatomic and functional aspects of the valvular lesion is of the utmost importance in conservative surgery. Transesophageal echocardiography is a new approach to investigating the mitral valve, and our study was undertaken with the purpose of determining its importance in the exploration of mitral regurgitation of non-rheumatic origin. Subjects included were twenty patients with pure and isolated mitral regurgitation (MR): 14 males and 6 females with an average age of 47 +/- 13 years. All the patients underwent a first transesophageal 2D and color Doppler echocardiographic examination, and 5 of them underwent a second one during cardiovascular surgery. Mitral anulus diameter, mitral valve cordae tendinae status, valvular leaflet length and coaptation were examined and color Doppler regurgitation jet area was measured. Mitral anulus diameter was 40.2 +/- 8.06 mm (diastolic) and 41.9 +/- 8.53 mm (systolic) and was above the values considered to be normal. Anterior leaflet length was 30.8 +/- 3.12 mm and posterior leaflet length was 22.9 +/- 4.74 mm; regurgitation jet area was between 1.2 cm2 and 13.52 cm2 with an average of 5.44 cm2. In the group with MR of mixomatous origin, systolic anulus diameter showed a linear correlation with regurgitation jet area (r = 0.79). In the 6 patients who underwent cardiac catheterization, angiographic semiquantitative evaluation of the MR confirmed that based on color Doppler jet area. In all twenty patients transesophageal echocardiography enabled us to identify the mechanism responsible for mitral insufficiency.(ABSTRACT TRUNCATED AT 250 WORDS)