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Biomedical subjects

R Bussani

Publications and source records attributed to R Bussani.

At least 19 recordsLinked to original sources
PubMed2001

Intractable fever and cortical neuronal glycogen storage in glycogenosis type 2.

Glycogenosis type 2 is an autosomal recessive glycogen storage disorder caused by deficiency of lysosomal acid alpha-glucosidase. Different phenotypes are recognized. The authors describe two children affected by the late infantile form; both presented terminal hyperthermia not caused by infections. Autopsy performed in one case showed diffuse glycogen storage in the CNS neurons. In light of current interest in enzyme replacement therapy, this finding casts some doubt on how effective enzyme replacement therapy will be unless it can be targeted directly into the CNS.

Cerebral Cortex↗
PubMed2001

Evidence that human cardiac myocytes divide after myocardial infarction.

BACKGROUND: The scarring of the heart that results from myocardial infarction has been interpreted as evidence that the heart is composed of myocytes that are unable to divide. However, recent observations have provided evidence of proliferation of myocytes in the adult heart. Therefore, we studied the extent of mitosis among myocytes after myocardial infarction in humans. METHODS: Samples from the border of the infarct and from areas of the myocardium distant from the infarct were obtained from 13 patients who had died 4 to 12 days after infarction. Ten normal hearts were used as controls. Myocytes that had entered the cell cycle in preparation for cell division were measured by labeling of the nuclear antigen Ki-67, which is associated with cell division. The fraction of myocyte nuclei that were undergoing mitosis was determined, and the mitotic index (the ratio of the number of nuclei undergoing mitosis to the number not undergoing mitosis) was calculated. The presence of mitotic spindles, contractile rings, karyokinesis, and cytokinesis was also recorded. RESULTS: In the infarcted hearts, Ki-67 expression was detected in 4 percent of myocyte nuclei in the regions adjacent to the infarcts and in 1 percent of those in regions distant from the infarcts. The reentry of myocytes into the cell cycle resulted in mitotic indexes of 0.08 percent and 0.03 percent, respectively, in the zones adjacent to and distant from the infarcts. Events characteristic of cell division--the formation of the mitotic spindles, the formation of contractile rings, karyokinesis, and cytokinesis--were identified; these features demonstrated that there was myocyte proliferation after myocardial infarction. CONCLUSIONS: Our results challenge the dogma that the adult heart is a postmitotic organ and indicate that the regeneration of myocytes may be a critical component of the increase in muscle mass of the myocardium.

Antibodies, Monoclonal↗
PubMed2001

Absence of connections between spinal nerves and the spinal cord in a twin fetus: a very rare malformation occasionally evidenced at autopsy.

We describe a rare case of spinal cord malformation in a dichorionic diamniotic twin fetus aborted at 20 weeks' gestation due to acute chorioamnionitis with placental dysmaturity probably caused by a maternal viral infection. At autopsy, there were no connections between the spinal nerves and the spinal cord. The spinal cord lacked the posterior median fissure and gray matter; only a few neurons were present in the anterior and lateral gray columns. No chromosome anomalies were found. Although we cannot reconstruct the pathogenetic chain of events leading to this malformation, we believe that it is correlated with a maternal viral infection. We hypothesize that this viral infection altered the delicate balance between the factors inducing and those inhibiting fetal spinal neural differentiation.

Abortion, Spontaneous↗
PubMed2001

Dermal exposure assessment of polycyclic aromatic hydrocarbons: in vitro percutaneous penetration from coal dust.

To understand the dermal uptake of chemicals bound to soil and dust, information on the neat substance is helpful but does not seem sufficient. Because of its content of polycyclic aromatic hydrocarbons (PAHs) coal is suspected to be carcinogenic. However, experimental carcinogenity studies on coal dust never succeeded in demonstrating a higher incidence of cancer in treated animals. The aim of the study was to assess dermal penetration through human skin of PAHs from coal dust. A sample of coal dust was grinded and sieved, using the particle size of < 30 microm. An in vitro static diffusion cell system validated by in vitrolin vivo comparison has been used to study dermal penetration through human skin of PAHs from coal dust compared with their percutaneous absorption as pure compounds. No percutaneous penetration of PAHs was observed in the cells where coal dust was applied, while dermal penetration was demonstrated for PAHs applied in an acetone solution. Results agree with the literature that PAHs are poorly absorbed through the skin from solids. Dermal risk assessment of PAHs should take into account not only the degree and the extent of skin contamination, but also their bioavailability, which is heavily influenced by the physico-chemical characteristics of the matrix.

Administration, Cutaneous↗
PubMed2000

An uncommon cause of lower limb weakness.

We describe a case of a severely mentally disabled patient diagnosed as suffering from Guillain-Barré syndrome and treated with repeated plasma exchange. However, the abrupt onset of a cardiovascular collapse prompted a more in-depth diagnostic workup which demonstrated that the neurologic symptoms were likely to be ascribed to poisoning with heavy metals from a large number of ingested coins and other metallic items.

Aluminum↗
PubMed2000

Early screening for fetal cardiac anomalies by transvaginal echocardiography in an unselected population: the role of operator experience.

OBJECTIVES: To examine the accuracy of early transvaginal fetal echocardiography performed in an unselected population by operators with different levels of experience and to compare the results with those obtained from a referral population. DESIGN: Prospective study. METHODS: A series of 4785 unselected fetuses and 221 referred fetuses were screened at 13-15 weeks' gestational age by transvaginal echocardiography. For each fetus, visualization of the four-chamber view plus the origin of the great arteries was attempted. Color Doppler imaging was only performed in cases of cardiac malformations already identified by two-dimensional echocardiography. The scans were performed by seven operators with different levels of experience. Reliability was assessed by conventional transabdominal echocardiography at 20-22 weeks, by postnatal follow-up in the first 3 months of life, and/or by autopsy in all cases of termination or fetal death. RESULTS: The rate of complete visualization (four-chamber view plus great arteries) was 47.5% in the unselected population, and 76.9% in the referral population. There were four (0.08%) true positives among the unselected fetuses, and five (2.3%) among referrals, mostly with enlarged nuchal translucency or other malformations. Among the unselected fetuses, nine false negatives were detected by transabdominal echocardiography. Improvement in the operators' ability to recognize cardiac anomalies in unselected population was disappointing and was influenced more by individual approach than by the number of examinations performed. CONCLUSIONS: Early screening for cardiac anomalies among unselected fetuses is ill-advisable. The usefulness of an early approach is confirmed in high risk fetuses or in the presence of enlarged nuchal translucency when performed by expert operators.

Adult↗
PubMed1999

Skin absorption in vitro of glycol ethers.

OBJECTIVES: The increased use of glycol ethers (GEs) for water-based paints and cleaning products, combined with a lack of information about many of these products, particularly with regard to the effects of percutaneous exposure, led us to evaluate the skin absorption rates of a group of glycol ethers in vitro. METHODS: Skin permeation was calculated using the Franz cell method with human skin. A physiological solution was used as the receiving phase. The amount of solvent passing through the skin was analysed with a gas chromatographic technique employing flame ionization detection. A permeation profile was obtained and steady state, lag time and permeation constant flux was calculated for each of the following solvents: ethylene glycol monoethyl ether (EGMEE), propylene glycol mono-methyl ether (PGMME); propylene glycol mono-methyl ether acetate (PGMMEac); 2-propylene glycol 1-butyl ether (2PG1BE), ethylene glycol dimethyl ether (EGDME), ethylene glycol diethyl ether (EGDEE) and diethylene glycol dimethyl ether (DEGDME). All solvents were tested in their pure form and with 70% acetone. RESULTS: For all solvents tested the lag time was less than 2 h, and for the majority of them was about 60 min. Flux at steady state ranged between 0.017 +/- 0.005 and 3.435 +/- 1.897 mg/cm(2)/h and permeation rate was from 0.0192 to 1.02 x 10(-3) cm/h. The presence of acetone in the solution caused a reduction in lag time and an increase in permeation rate, higher for EGMEE, lower for EGDEE, indicating the enhancing effect of this mixture of solvents. CONCLUSIONS: Our results confirm the high percutaneous absorption of the GEs tested. The Franz method might be helpful for obtaining a grading of skin notation for hydrophilic substances: in the case of glycol ethers, it can give us precise information about permeation risk, particularly important in the evaluation of exposure. In the case of solvents with high dermal absorption, the air concentration is no longer a sufficient measure of the total exposure to workers, and therefore merely respecting threshold limit values (TLVs) in the air is not necessarily enough to protect them.

Adult↗
PubMed1999

Neoplastic thrombotic endocarditis of the tricuspid valve in a patient with carcinoma of the thyroid. Report of a case.

A rare case of neoplastic thrombotic endocarditis of the tricuspid valve in a patient with poorly differentiated follicular carcinoma of the thyroid is described. Although some previous reports documented extension of the follicular thyroid carcinoma into the great veins of the neck to the right cardiac chambers, this seems to be the first report of a neoplastic thrombotic lesion of the tricuspid valve in a patient with thyroid carcinoma. In our institute, where about 2,500 autopsies are performed yearly, and about 600 valvular lesions are discovered, such a lesion was never detected. In patients with carcinoma, a neoplastic thrombotic endocarditis may be a source of microembolic neoplastic spread leading to a possible pulmonary colonisation.

Adenocarcinoma, Follicular↗
PubMed1999

Systemic Bartonella henselae infection with hepatosplenic involvement.

BACKGROUND: Systemic manifestations of Bartonella henselae infection are rare in the immunocompetent host. The infection generally has initial symptoms of prolonged fever and multiple granulomatous lesions in liver and spleen. METHODS: Retrospective analysis of the records of all patients with hypoechogenic lesions in the liver and/or spleen diagnosed from 1990 through 1996 in three pediatric clinics in northern Italy. RESULTS: Among the 13 patients reviewed, 9 had evidence of B. henselae infection and hepatosplenic involvement: five had prolonged and unexplained fever lasting from 3 to 16 weeks, and four had typical cat-scratch disease and peripheral lymphadenitis. All patients had increased sedimentation rate and normal aminotransferase serum activity. Five children had a liver biopsy, by laparotomy in three and by needle in two. In all, the predominant liver lesion was a necrotizing granuloma. All patients were treated with broad-spectrum antibiotics. Fever lasted from 3 to 16 weeks, and hepatic and splenic lesions resolved in all with residual splenic calcification in one. CONCLUSIONS: Systemic B. henselae infection represents an important cause of inflammatory hypoechogenic hepatosplenic lesions in children. Serology provides rapid diagnosis, avoiding multiple and invasive investigations. Hepatosplenic involvement can be found even in children with typical cat-scratch disease without apparent systemic manifestations. The frequency of liver and/or splenic involvement in cat-scratch disease is probably underestimated.

Adolescent↗
PubMed1999

Predictive factors of nodal metastases in oral cavity and oropharynx carcinomas.

OBJECTIVE: To estimate the value of tumor (T)-related parameters (singly or in association) in predicting the presence of occult metastases in oral cavity and oropharynx carcinomas. STUDY DESIGN: We considered tumor size (T size), Broders' grading of histologic differentiation (G), invasive cell grading (ICG), and thickness. For every single factor, we evaluated the correlation between the parameter and occult metastases in N0 neck disease, the correlation between the parameter and metastases independently from node (N) class, and the relation between the parameter and extracapsular spread. On the basis of previous results, we gave a score to each parameter that showed higher significativity the sum of which we called global score (GS). We compared the predictivity of metastasis of the GS to that of the single parameters to obtain a more efficacious index. METHODS: Sixty-one patients with carcinomas of the oral cavity and oropharynx who underwent surgery on T and N were examined. RESULTS: Our preliminary results have highlighted a significant correlation between G, ICG, and the presence of occult metastases. No correlation between T size and metastases was highlighted. The GS obtained from G and ICG turned out to be highly significant. A strong correlation was found between the ICG score and extracapsular spread: a high risk of extracapsular spread was found in patients with an ICG score > or =13. CONCLUSION: We perform elective neck dissection in T1-T2 N0 neck disease with ICG > or =13 and GS1 > or =9.

Humans↗
PubMed1999

Does the length of stay in the intensive care unit influence the diagnostic accuracy? A clinical-pathological study.

To evaluate the rate of diagnostic errors leading to preventable deaths among patients admitted to our intensive care unit (ICU), we retrospectively reviewed the medical and autopsy records of all patients who died in the ICU between 1 January 1991 and 31 December 1993. Excluded were patients with traumatic injuries, cerebrovascular accidents and primary cardiac arrest. According to their length of stay (LOS) in the ICU, patients were subdivided into Group A (LOS 0-24 hours), Group B (LOS > 24 hours-14 days), and Group C (LOS > 14 days). Errors were divided into Type 1 (failure to recognize a treatable life-threatening condition); Type 2 (failure to recognize a life-threatening condition, which treated, however, would unlikely alter the outcome), and Type 3 (failure to recognize a condition unrelated to the outcome). Overall, 159 consecutive patients were enrolled. Type 1 errors were 5% in Group A, 4% in Group B and 9% in Group C. Type 2 errors were 18% in Group A, 34% in Group B, and 30% in Group C. Fully correct diagnoses or Type 3 errors were present in 77% of patients in Group A, 62% of patients in Group B, and 61% of patients in Group C. Clinical errors of any type were not related with the LOS in the ICU or in the hospital, age and the number of underlying chronic diseases.

Adult↗
PubMed1999

Cardiac tamponade: an unusual, fatal complication of infective endocarditis.

Infective endocarditis still occurs in Western countries and so far, it has been an important medical problem. The spectrum of infective endocarditis complications may be extremely wide. We report two unusual cases of infective endocarditis complicated with heart rupture and pericardial effusion. In one case, the infective process spread from the aortic valve developing a sinus of Valsalva aneurysm with subsequent aortic perforation. The perforation reached the right auricular epicardial region with subsequent epicardial rupture and hemopericardium. In the other patient, an infective process of the aortic cusps induced the formation of multiple abscesses in the left ventricle and in the right atrium. An annular abscess of the tricuspid valve was found. From the right atrium, an infected fistula spread through the atrial wall and perforated the epicardial surface of the right auricle. Aside from the rare occurrence of these complications in patients affected with infective endocarditis, these cases are of clinical interest because they raise the problem of the need of greater sensitivity to the diagnosis of endocarditis and proper diagnostic approach.

Aged↗