The MyD88 rs6853 and TIRAP rs8177374 polymorphic sites are associated with resistance to human pulmonary tuberculosis.

Toll-like receptors recognize several components of Mycobacterium tuberculosis, the main causative agent of tuberculosis. The signaling pathways leading to activation of the immune response require the MyD88 and TIRAP genes. The hypothesis that polymorphic variants of these genes influenced resistance to pulmonary tuberculosis was tested by a case-control study (400 cases and 400 controls). Heterozygosity at the polymorphic sites MyD88 rs6853 (alleles: A, G) or TIRAP rs8177374 (S180L) (alleles: C, T) is associated with resistance to pulmonary tuberculosis (P: 7.8 × 10(-8) and 2 × 10(-6), respectively). Double heterozygosity confers higher protection levels (P: 10(-14) to 2 × 10(-16)). The logistic regression model displayed that the double homozygous genotype GG/TT predisposes to the disease (odds ratio (OR): 5.78) and the AG/TT genotype combination neutralizes the protective activity exerted by AG (OR: 3.05). The same model showed that the risk of developing the disease increases with age from 31-40 years to 71-80 years (OR: 1.32-13.59).

Measurement of mitral valve area in mitral stenosis: four echocardiographic methods compared with direct measurement of anatomic orifices.

OBJECTIVES: This study sought to compare the mitral valve areas of patients with rheumatic mitral valve stenoses as determined by means of four echocardiographic and Doppler methods with those obtained by direct anatomic measurements. BACKGROUND: There has been no systemic comparison between Doppler-determined valve areas and the true anatomic orifice in a single cohort. METHODS: In 30 patients with mitral stenosis, the mitral valve areas determined by two-dimensional echocardiographic planimetry, pressure half-time, flow convergence region and flow area were compared with the values directly measured on the corresponding excised specimen by means of a custom-built sizer. RESULTS: The correlation coefficient was r = 0.95 (SE 0.06, p < 0.0001) for two-dimensional planimetry; r = 0.80 (SE 0.09, p < 0.0001) for pressure half-time; r = 0.87 (SE 0.09, p < 0.0001) for flow convergence region; and r = 0.54 (SD 0.1, p < 0.002) for flow area. Two-dimensional echocardiographic planimetry, pressure half-time, flow convergence region and flow area overestimated the actual anatomic orifice by > 0.3 cm2 in 2, 1, 6 and 0 patients, respectively, and underestimated it by > 0.3 cm2 in 0, 4, 1 and 8 patients, respectively. CONCLUSIONS: Mitral valve areas determined by two-dimensional planimetry, pressure half-time and proximal flow convergence region reliably correlated with size of the anatomic orifice. The flow area method provided a less reliable correlation.

Hypertension, non-insulin-dependent diabetes, and intracellular sodium metabolism.

The present study was designed to investigate whether non-insulin-dependent diabetic hypertensive patients exhibit abnormalities in intracellular sodium metabolism similar to those described for essential hypertensive patients. Both normotensive and hypertensive non-insulin-dependent diabetic patients had similar average values of both Na+-Li+ countertransport and Na+-K+ cotransport compared with nondiabetic controls. Within the group of diabetic patients, hypertensive patients did not exhibit any abnormalities in either of the sodium transport pathways studied. The possible implications of these findings are addressed.

Incorrect echocardiographic diagnosis in patients with mechanical prosthetic valve dysfunction: correlation with surgical findings.

PURPOSE: To identify the rate of occurrence and type of incorrect echocardiographic diagnoses in patients with mechanical valve prostheses. PATIENTS AND METHODS: We studied 170 consecutive patients (73 women and 97 men) with a total of 208 prostheses who underwent surgery for mitral (n = 136) or aortic (n = 72) valve dysfunction between January 1991 and December 1997. Preoperative echocardiographic data were compared with surgical findings. Any major discrepancy between the echocardiographic reports and surgery was judged to be unconfirmed when the preoperative echocardiographic diagnosis was not confirmed at surgery, but the prosthesis was found to be dysfunctioning; and was judged to be erroneous when the preoperative echocardiographic diagnosis was not confirmed, and surgical inspection failed to reveal any other prosthetic abnormality. RESULTS: There were 25 (12%) diagnostic errors. Of the 136 mitral prostheses, there were 9 unconfirmed diagnoses of paravalvular regurgitation (6 had a fibrous tissue overgrowth, 1 had a thrombus with fibrous tissue overgrowth, 1 had endocarditis vegetations, and 1 had a ball variance) and 5 erroneous diagnoses. Eleven diagnostic errors were made in the 72 aortic prostheses: there were 9 unconfirmed diagnoses (paravalvular regurgitation was diagnosed as transvalvular in 7, and transvalvular regurgitation as paravalvular in 2 cases), and 2 erroneous diagnoses. CONCLUSIONS: Although echocardiography has gained great credibility among clinicians, special care should be taken when assessing patients in whom prosthetic valve dysfunction is suspected.

Echocardiographic follow-up in patients with mild to moderate mitral stenosis: is a yearly examination justified?

The result of this study showed that echocardiographic and Doppler parameters in patients with mild to moderate mitral stenosis did not undergo any major changes over a relatively long observation period, reflecting the substantial stability of the valve disease process. Thus, unless such patients experience clinical deterioration, a yearly echocardiographic examination appears to be unjustified.

Value of transthoracic two-dimensional echocardiography in predicting viability in patients with healed Q-wave anterior wall myocardial infarction.

The role of transthoracic echocardiography as a predictor of recovery after revascularization has not yet been established. Two-dimensional echocardiography was performed in 15 patients with a healed anterior wall myocardial infarction and severe, isolated stenosis of the left anterior descending coronary artery before, and 3 to 6 months after angiographically confirmed successful revascularization. The asynergic segments were classified into 2 groups according to 2 different echocardiographic patterns: those showing a normal acoustic reflectance with normal end-diastolic thickness (pattern A segments) and those showing an increase in acoustic reflectance and reduced end-diastolic thickness (pattern B segments). We hypothesized that pattern A segments were more likely to recover (viable myocardium) and that pattern B segments were consistent with irreversibility. A total of 240 segments in the 15 patients were evaluated before and after revascularization. Sixty-seven segments were asynergic; of these, 52 were judged to have pattern A and 15 pattern B. Of the 52 pattern A segments, 27 were hypokinetic and 25 akinetic. All of the pattern B segments were akinetic (n = 9) or dyskinetic (n = 6). Pattern A was predictive of postoperative recovery in 39 of 52 segments (75%) (p < 0.0001); pattern B was predictive of irreversibly damaged tissue in 13 of 15 segments (87%) (p < 0.0001). Thus, in patients with healed anterior wall myocardial infarction, resting transthoracic echocardiography is a simple and reliable predictor of the behavior of asynergic segments after revascularization.

Echographic diagnosis of pretibial myxedema in patients with autoimmune thyroid disease.

In the present study we have evaluated the use of pretibial ultrasound for the diagnosis of pretibial myxedema (PTM). We studied 76 patients, 58 with Graves' disease, 13 with Hashimoto's thyroiditis and five with idiopathic hypothyroidism. Thirty-two normal subjects were also studied as controls. Sixty-four patients had associated ophthalmopathy. The ultrasound scanner was equipped with 10- and 13-MHz probes. Punch biopsies were carried out in 11 patients and tissue sections examined on a light microscope. On clinical examination 21 patients (28%) had suspected PTM. By ultrasound, we measured the thickness of dermis and subcutaneous tissue (D1) and that including only deeper dermis (D2) in normal subjects to define the echographic parameters of normal pretibial skin. We then found increased skin thickness in 25 patients (33%), with mean D1 and D2 values significantly higher than those measured in controls (p < 0.00001). The echographic study was positive in 20 patients with ophthalmopathy (31%). Ultrasound showed increased skin thickness in 16 of 21 patients (76%) with clinically suspected PTM. Histopathological findings confirmed the presence of PTM in all the patients who underwent pretibial skin biopsy. We believe that the measurement of pretibial skin thickness by ultrasound may be useful for revealing the presence of PTM.

Aorto-atrial fistula through the septum in recurrent aortic dissection.

A case of aortic dissection (De Bakey type I) with a fistula to the right atrium through the interatrial septum, diagnosed by transthoracic and transesophageal echocardiography is reported. The patient presented with cardiac failure and a continuous murmur in the right second and third intercostal spaces. The patient underwent successful operative repair.

Additional diagnostic value of multiplane echocardiography over biplane imaging in assessment of mitral prosthetic valves.

OBJECTIVE: To evaluate how often multiplane transoesophageal echocardiography yields new or complementary data in mitral prostheses in comparison with the exclusive use of biplane imaging. PATIENTS: 73 consecutive patients with mitral prostheses who underwent multiplane transoesophageal echocardiograpy between January 1993 and December 1994. METHODS: Biplane images (transverse and longitudinal planes) and multiplane images (transverse, longitudinal, and intermediate planes) were recorded on two separate videotapes. The data provided by multiplane transoesophageal echocardiography were evaluated as (a) new data (abnormalities missed by biplane imaging); (b) complementary data (better delineating lesions already visualised by biplane imaging); or (c) redundant data (data already provided by biplane imaging). RESULTS: Multiplane transoesophageal echocardiography revealed new abnormalities in seven patients (9.5%) (thrombi in three and paraprosthetic leaks in the remaining four) and complementary data in nine (12.3%). In patients with paraprosthetic regurgitation, the possibility of continuously visualising the sewing ring by means of sequential angulations allowed the circumferential extension of the leak to be measured. In seven patients with paravalvar regurgitation who underwent surgery, the extension of the leak as measured by the multiplane approach closely corresponded with the surgical data. CONCLUSIONS: In comparison with the exclusive use of biplane imaging, the multiplane approach added new or complementary data in a significant proportion of patients with mitral prostheses. The ability to obtain the sequential adjacent planes allowed a more reliable appraisal of the extension of the leak and other abnormalities.

Hemangioendothelioma of the spleen: imaging findings at color Doppler, US, and CT.

The ultrasonographic, color Doppler, and computed tomography findings of an unusual vascular primary tumor of the spleen are reported. A brief clinical and histopathological analysis of this entity is discussed and the differential diagnosis of other primary lesions of the spleen is attempted.

CT of renal metastatic disease. A pictorial essay.

The routine use of computed tomography (CT) for the staging and follow-up of malignant neoplasm has improved the detection of secondary spread to the kidneys. This essay illustrates the gamut of the CT aspects of such secondary lesions. Seven main patterns of metastatic features are identified. Some of these patterns appear to reproduce the same radiological features seen in the corresponding primary lesions. Where feasible, differential diagnostic criteria are offered.

CT of secondary neoplasms. Unusual structural features--a pictorial essay.

The newer anticancer therapies, the routine employment of cross-sectional imaging modalities for staging and follow-up, and the increased survival rate of patients with neoplastic lesions have markedly widened the range of pathological and imaging features of secondary neoplasms. Moreover, the changes occurring in morphological and structural aspects of metastases may be the direct effect of the improved therapeutic tools, and in turn may offer revealing clues to the clinician regarding the outcome of therapy itself. The scope of this essay is to show the atypical computed tomographic (CT) aspects of a series of metastatic lesions. We selected the lesions on the basis of their unusual structural features, such as calcification; hemorrhage; superinfection; pseudocystic, cystic, and lipoid appearance; and hypervascularity. A highly detailed assessment of such changes is nowadays possible and appears mandatory.

Thin-section CT follow-up of metastatic ovarian carcinoma correlation with levels of CA-125 marker and clinical history.

Second-look laparotomy and CA-125 are the gold standard in follow-up of ovarian carcinoma. Since no definite role seems established for cross-sectional imaging in assessment of recurrence we employed thin-section computed tomography (CT), correlated with CA-125 levels and detailed knowledge of the clinical history as a follow-up protocol One hundred seventy-seven patients with ovarian carcinoma were selected because of: (a) pathologically proven remission after first-line chemotherapy, (b) follow-up by means of thin-section CT every 6 months for the fist 3 years and every 10 months subsequently, (c) monitoring CA-125 serum levels every 3 months for the first 3 years and every 6 months subsequently; (d) pathologic confirmation or clinical and laboratory follow-up after 12 months or longer for the CT findings. Fifty percent of the patients showed recurrence of disease. Our protocol yielded 93.2% true positive, dubious findings in 5.6% 1.0% false negatives, 97.7% true negative, and 2.3% false positive. With a tailored technique, CT was particularly sensitive in early diagnosis of peritoneal seeding, even in the absence of ascites or increases in the levels of CA-125. Repeated administration of contrast medium, water enemas, and repeated scanning of suspicious volumes with differing scanning parameters were the factors managed by the radiologist. We conclude that thin-section CT, correlated with CA-125 levels and careful review of the clinical history could represent a valid alternative to repeated explorative laparotomies in the follow-up of ovarian carcinomas.

US and CT findings of secondary neoplasms of the thyroid--a pictorial essay.

Although clinical series report a low (3%) incidence of metastases to the thyroid gland, autoptic studies have showed occurrences as high as 17%, probably because of the high vascularization of the thyroid. We selected 9 patients who had pathologically proven thyroid metastases at CT and US, during follow-up for a known primary neoplasm. The most common originating neoplastic primaries include mostly those that generally give rise to blood-borne metastases such as breast and lung cancers, mucoid adenocarcinoma of the stomach, colon cancer and renal cancer, as well as melanoma and leiomyosarcoma. Because of its diffusion, sensitivity, and noninvasiveness, ultrasonography can justifiably be introduced in the staging protocols of those neoplasm that more frequently give blood-borne metastases to the thyroid, but a US-guided biopsy is warranted for hypoechoic or otherwise suspicious nodules. This holds particularly true in disease-free patients or previously diagnosed with generally slow-growing malignancies (breast or kidney), since the secondary localization, often metachronous in our experience, may be effectively managed surgically. CT features, on the other hand, are extremely variable and are directly dependent on the histology of the primary lesion, as well as the size of the secondary lesions.

[Circadian variations in the incidence of transient ischemic myocardial episodes during hospitalization for acute myocardial infarct]. / Variazioni circadiane nell'incidenza di episodi di ischemia miocardica transitoria nel periodo pre-dimissione dopo infarto miocardico acuto.

The aim of this research was to evaluate the incidence and circadian variation of episodes of transient myocardial ischemia in the predischarge period after acute myocardial infarction (AMI). One hundred and ninety patients were selected in stable clinical condition, 83 with inferoposterior AMI, 61 with anterior AMI, 12 with lateral AMI (34 patients with non Q AMI). The patients with unstable clinical course during the first 48 hours after admission were excluded. All patients underwent dynamic electrocardiography (Pathfinder 3 Reynolds Medicals) between the tenth and the fifteenth day of the in-hospital phase. Sixteen/190 patients showed ECG changes due to transient myocardial ischemia, with a length higher than 60 sec and with an interval between episodes higher than 60 sec. Ten patients had ST depression, 6 patients had ST elevation. In total, the ischemic episodes were 25, silent 21 and symptomatic 4, with incidence from 1 to 4 during 24 hours, with a length from 1 to 17 min (mean 8 min); mean heart rate increased during ischemic episodes. Seventeen/25 ischemic episodes occurred between the twelfth and the twenty-fourth hours. A follow-up of 15 +/- 3 months was carried-out: 1 patient died after reinfarction, 1 patient died of non cardiac cause, 6 patients showed unstable angina (in 4 of them myocardial revascularization procedure was performed), 8 patients were asymptomatic; on the contrary, 32/174 patients without episodes of myocardial ischemia presented cardiac events, with lesser incidence than ischemic patients (p < 0.01). This retrospective analysis showed higher evidence of episodes due to transient myocardial ischemia during the afternoon and evening hours in the in-hospital phase after AMI.(ABSTRACT TRUNCATED AT 250 WORDS)

[Thyroid metastases: the echographic and computed tomographic aspects]. / Metastasi tiroidee: aspetti con ecografia e Tomografia Computerizzata.

PURPOSE: The modern integrated approach to neoplastic diseases permits to detect metastatic lesions in uncommon sites, such as the thyroid gland. We reviewed the ultrasonographic (US) and Computed Tomographic (CT) patterns of secondary thyroid lesions, comparing imaging findings with primary tumor histopathologic diagnosis. MATERIAL AND METHODS: We reviewed a series of 10 thyroid metastases diagnosed from 1986 to 1995 at staging (4 cases) or follow-up (6 cases) examinations; in the latter, metastases were diagnosed 39 to 89 months (mean: 58 months) after the primary tumor. The patients were 7 women and 3 men, 55 to 94 years old (mean: 65 years). The final diagnosis was made at cytology (4 cases), histology (5 cases) or surgery (1 case). RESULTS: The primary tumors were breast cancer (2 cases), melanoma (2 cases), small cell lung cancer, bronchioalveolar carcinoma, mucoid stomach adenocarcinoma, renal carcinoma, colon carcinoma and leiomyosarcoma (1 case each). The thyroid lesion was unifocal in 6 patients and multifocal in 2; the gland was diffusely involved in 2 patients. Dysphagia was found in all patients. Thyroid function was normal in 6/7 patients and one had hyperthyroidism; normofunctional goiter was found in another patients. US showed focal or diffusely infiltrating hypoechoic lesions; likewise, inhomogeneously hypodense areas with mild contrast enhancement were observed at CT. Thyroid secondary lesions exhibited variable patterns when necrotic, hemorrhagic or calcific areas were included; correlations with primary tumor-pathogenetic and histologic features were often observed. Survival rate was 2-60 months (mean: 19 months). CONCLUSION: Since imaging findings in thyroid metastases are often not specific and sometimes atypical, fine needle biopsy of suspicious lesions should be carried out for both staging and follow-up.

Thyroid ultrasonography in patients with a previous episode of amiodarone induced thyrotoxicosis.

Amiodarone induced thyrotoxicosis (AIT) occurs most frequently in euthyroid patients with nodular goiter or Graves' disease due to release of iodine from this iodine rich drug. However, some cases of AIT have been attributed to an inflammatory process of the thyroid gland due to amiodarone itself. We have studied the echographic pattern of the thyroid in 11 euthyroid patients who had an episode of AIT 32.4 +/- 3.6 months earlier due to amiodarone induced thyroiditis. There was a significant increase in dyshomogeneous echo patterns and hyperechogenecity which suggests fibrotic lesions. These findings were similar to those observed in 10 euthyroid patients who 77 +/- 12 months earlier had an episode of subacute thyroiditis (SAT). Thyroid volumes of control subjects and patients with a history of AIT and SAT were 10.9 +/- 1.4, 8.7 +/- 1.4 and 9.8 +/- 1.7, in the order. These values were not significantly different. These echographic findings, normal serum thyroid hormone and TSH concentrations and the absence of circulating antithyroid peroxidase antibodies suggest that underlying thyroid autonomy and Graves' disease were not the cause of the previous episode of AIT. The presence of hyperechogenic and dyshomogeneous patterns appears the result of the healing of the inflammatory AIT process.

[Multiplane transesophageal echocardiography. The experience with 250 patients]. / Ecocardiografia transesofagea multiplana. Esperienza su 250 pazienti.

BACKGROUND AND OBJECTIVES: Multiplane transesophageal echocardiography provides countless tomographic planes through an angle of 180 degrees, thus overcoming the restriction encountered even with biplane transesophageal echocardiography. However, the incremental diagnostic value and clinical usefulness of this technique over biplane transesophageal echocardiography has not been extensively studied. STUDY POPULATION AND METHODS: In order to evaluate its advantages over biplane imaging, 250 patients (129 male, 121 females) aged 14-86 years, underwent multiplane transesophageal echocardiography. Indications for the study were the following: source of embolism in 83 patients, suspected prosthetic dysfunction in 58 patients, valvular disease in 46 patients, congenital heart disease in 30 patients, aortic disease in 17 patients, intra- or paracardiac masses in 11 patients, and other reasons in 5. All the patients underwent an initial comprehensive diagnostic assessment using only the transverse (0 degree) and longitudinal (90 degrees) plane as the biplane imaging technique. "Off-axis" tomographic sections through the full 0 degree to 180 degrees angle were subsequently obtained by means of the gradual electrical rotation of the transducer. The echocardiographic information obtained by rotating the transducer was then compared to that obtained by biplane imaging to determine whether the additional information provided by "off-axis" sections a) carried diagnostic data; b) were to be considered useful but not diagnostic; or c) irrelevant. RESULTS: Additional diagnostic information was obtained in 24 out of the 250 patients (9.6%), including the source of embolism in 9 patients, mitral insufficiency in 6 patients, bicuspid aorta in 2 patients, aortic endocarditis in 2 patients, mitral prosthetic dysfunction in 4 patients and complex congenital heart disease in 1 patient. Additional useful but non-diagnostic information was obtained in 162 patients (64.8%). These data mainly allowed a more comprehensive assessment of the cardiac abnormality, enhancing confidence in the transesophageal diagnosis. Finally, data considered to be irrelevant were found in 64 patients (25.6%). CONCLUSIONS: The present study indicates that the wide range of tomographic planes provided by multiplane transesophageal echocardiography allows a more comprehensive evaluation of cardiac diseases and makes an accurate diagnosis possible in a significant number of cases.

Outward Na-K-Cl cotransport in human red blood cells: a methodological evaluation of method for epidemiologic investigations.

The present report evaluates a method for the determination of the maximal velocity of the outward sodium, potassium, chlorine (Na-K-Cl) cotransport in erythrocytes. The loading procedure was carried out using the ionophore nystatin. The technical error for this assay, based on concurrent analysis of randomized blind duplicate samples, was 8.04% of the sample mean and 27.5% of the sample standard deviation. The assay was stable over time and reproducible. Fasting was not necessary. The ratio of intra- to interindividual variances was small. The cells can be safely preserved in an appropriate preservation solution without modification of the ion transport assay. The assay appears to be adequate for use in large-scale field trials.