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Biomedical subjects

M Mancuso

Publications and source records attributed to M Mancuso.

At least 37 records · Page 2Linked to original sources

Combined fluorescent antibody assay and viability staining for the assessment of the physiological states of Escherichia coli in seawaters.

AIMS: A comparison of methods that combine the use of immune sera with specific fluorescent probes for testing viability at single cell level was performed in order to estimate different living attributes of Escherichia coli in natural seawater samples. METHODS AND RESULTS: Cell culturability was assayed by plate method, respiratory activity and membrane integrity were determined by an indirect fluorescent antibody assay, combined with 5-cyano-2, 3 ditolyl tetrazolium chloride and propidium iodide, respectively. Results showed the coexistence of different physiological states within the E. coli population, of which a large fraction (46%) of cells was actively respiring. CONCLUSIONS: The methodological approach used offer interesting perspectives in water pollution monitoring, particularly when the differentiation between dead and living E. coli cells is required for a more precise assessment of the bacteriological quality of seawaters. SIGNIFICANCE AND IMPACT OF THE STUDY: The study suggests the importance of knowledge of the viability status of faecal bacteria in aquatic environments as a fundamental issue for the preservation of public health; the availability of rapid analytical procedures for this purpose may find significant applications in the evaluation of the sanitary risk consequent to water use.

Bacteriological Techniques↗

Quality of neurology residency programmes: an Italian survey.

In recent years there has been a growing interest in medical and particularly neurological education and how this should be related to the needs for patient care. To evaluate neurological training in Italy, we conducted a survey of the residency programmes aimed at different aspects of training. The survey was conducted in the 38 neurological Italian teaching hospitals and 27 of these answered. Six of the 27 centres organized all of the scheduled teaching courses. The quality of courses was considered 'not sufficient' in 11 schools and 'good' in 12. Seminars were regularly performed in 18 centres but in 60% of these the number was <1 per week. Questionnaires to evaluate the quality of teaching were lacking in all centres. Regarding the procedures performed by each resident there was a large variation between the different schools. A regular rotation of each resident in the neurophysiology services was performed in 14 schools. Ward and out patient activity varied widely and details are given. We conclude that there is marked heterogeneity in training programmes between different centres. Some important activities such as seminars and rotation in neurophysiology are performed poorly.

Data Collection↗

Effects of fish farming on microbial enzyme activities and densities: comparison between three Mediterranean sites.

AIM: The effects of fish farming on microbial enzyme activities and heterotrophic bacterial density were investigated in three Mediterranean sites before and after the start of mariculture. METHODS AND RESULTS: Microbial activities were measured on water and sediment samples by using fluorogenic substrates specific for leucine aminopeptidase, beta-glucosidase and alkaline phosphatase (AP); bacterial counts were determined by Marine agar plates. SIGNIFICANCE AND IMPACT OF THE STUDY: Comparison of activity and abundance values obtained before and after the experiment showed that fish farming mainly affected the levels of microbial activities; they were significantly enhanced both in water and sediments, reaching an increase of 183.66 times for AP in Castellammare Gulf. After mariculture, no significant variations were recorded in heterotrophic bacterial density in the waters, while significant changes were observed in the sediments. Effects induced appeared to be extended not only to stations in which cages were located, but also to control sites far from the direct influence of fish farming.

Animals↗

Mitochondrial DNA depletion: mutations in thymidine kinase gene with myopathy and SMA.

BACKGROUND: The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is an autosomal recessive disorder of early childhood characterized by decreased mtDNA copy number in affected tissues. Recently, MDS has been linked to mutations in two genes involved in deoxyribonucleotide (dNTP) metabolism: thymidine kinase 2 (TK2) and deoxy-guanosine kinase (dGK). Mutations in TK2 have been associated with the myopathic form of MDS, and mutations in dGK with the hepatoencephalopathic form. OBJECTIVES: To further characterize the frequency and clinical spectrum of these mutations, the authors screened 20 patients with myopathic MDS. RESULTS: No patient had dGK gene mutations, but four patients from two families had TK2 mutations. Two siblings were compound heterozygous for a previously reported H90N mutation and a novel T77M mutation. The other siblings harbored a homozygous I22M mutation, and one of them had evidence of lower motor neuron disease. The pathogenicity of these mutations was confirmed by reduced TK2 activity in muscle (28% to 37% of controls). CONCLUSIONS: These results show that the clinical expression of TK2 mutations is not limited to myopathy and that the myopathic form of MDS is genetically heterogeneous.

Child, Preschool↗

A ten-year (1989-1998) perspective study of the incidence of Type 1 diabetes in the district of Catania (Sicily) in a 0-14 year age group.

The aim of this report was to evaluate the incidence of Type 1 diabetes mellitus (T1DM) in the district of Catania (eastern Sicily) in children under 15 yr of age over a ten-yr period (01/01/1989 - 31/12/1998) in relation to age, sex, monthly-seasonal variability, calendar yr and spatial clustering. The estimated completeness of our register was 99.2%. The overall incidence rate was 12.38 per 100,000 during the period of the study. Twenty-four percent of cases were 0-4 yr at diagnosis, 42% were 5-9 yr and 34% were 10-14 yr. More males (no. 148) than females (no. 125) were newly diagnosed with a male/female ratio similar to the base population ratio in the range 0-14 yr and within age groups. The study revealed a non-random spatial distribution of T1DM incidence in children not accounted for by known demographic factors. A significant seasonal pattern and temporal trend of incidence were also detected.

Adolescent↗

Development of an enzyme assay for rapid assessment of Escherichia coli in seawaters.

AIMS: An analytical protocol has been developed and applied for the detection of glucuronidase activity in marine waters as a rapid alternative approach to assess the microbiological quality of seawaters. METHODS AND RESULTS: The fluorogenic substrate 4-methylumbelliferyl-beta-D-glucuronide is cleaved to a fluorescent product, methylumbelliferone, by the enzyme beta-glucuronidase, specific to Escherichia coli and closely related enterobacterial species (Shigella). The results suggest that this test is related to E. coli numbers, as estimated by immunofluorescence, more significantly than to faecal coliform numbers, obtained from culture media. CONCLUSIONS: The determination of the potential rate of glucuronidase activity may be used as a diagnostic tool for the indirect estimation of the presence of E. coli in seawaters. SIGNIFICANCE AND IMPACT OF THE STUDY: The method may be particularly useful in the early warning of seawater pollution, allowing the screening of coastal areas with different contamination levels in reduced time.

Bacteriological Techniques↗

Dissection and atherosclerosis of carotid arteries in the young: role of the apolipoprotein E polymorphism.

Twenty-seven young (<50 years old) patients with spontaneous carotid artery dissection in 11 cases and carotid atherosclerosis in 16 cases were evaluated to determine the apolipoprotein E polymorphism. At the DNA analysis the epsilon3/epsilon3 genotype was observed in all patients with dissection, in 13 of 16 (81.2%) patients with atherosclerosis and in 27 of 30 (90%) controls. Three of 16 (18.8%) patients with atherosclerosis and 3 of 30 (10%) controls presented with the epsilon4/epsilon3 genotype, and this difference was not statistically significant. Moreover, observation of the epsilon4/epsilon3 genotype was not significantly higher in patients with atherosclerosis compared with those with dissection. No homozygote epsilon4/epsilon4, epsilon2/epsilon2 or heterozygote epsilon2 genotype was observed. No correlation was found between the presence of the epsilon4/epsilon3 genotype and vascular risk factors. Therefore, the epsilon4 allele seems to be involved in carotid premature atherosclerosis development whereas it may appear to be protective for artery dissection occurrence. A larger sample size is needed to support this suggestion.

Adult↗

Immunofluorescence detection of Escherichia coli in seawater: a comparison of various commercial antisera.

Through a microscopical method, relying on the interaction between fluorescent antibodies and target antigen, it is possible to detect and enumerate Escherichia coli in seawaters. Various commercial monoclonal and polyclonal antisera have been tested in an indirect immunofluorescence (IIF) assay developed for microbiological monitoring of coastal waters. Prior to use, they have been titrated and screened for cross-reactions with a collection of clinical and environmental isolates. A comparison among counts obtained on field samples showed higher performance for microscopical than for plate methods, due to the ability of all antisera to label target cells specifically, regardless of their viability. Because of their different specificities, polyclonal antisera yielded better quantitative results than monoclonal antisera. The study further suggested the usefulness of the immunofluorescence assay as a rapid alternative analytical tool for the specific detection of bacterial pathogens in aquatic environments.

Colony Count, Microbial↗

Severe hypoglycaemia associated with a giant solitary fibrous tumor of the pleura.

Solitary fibrous tumors (SFT) of the pleura are a rare neoplasm, with benign biological behaviour. Recurrences are rare, and no distant metastases are described in the literature. SFT can secrete hormone-like substances, responsible for paraneoplastic syndromes. The authors describe a case of severe hypoglycaemia due to insulin-like growth factor II (IGF-2)'s secretion by a giant SFT of the pleura. Hypoglycaemia was controlled by the resection of the tumor. Diagnosis and surgical management of these neoplasms are also discussed.

Humans↗

Analysis of c-Ha-ras gene mutations in skin tumors induced in carcinogenesis-susceptible and carcinogenesis-resistant mice by different two-stage protocols or tumor promoter alone.

In the present study we describe the molecular analysis of c-Ha-ras gene mutations in 47 papillomas and 17 carcinomas developed in two lines of mice, carcinogenesis-susceptible (Car-S) and carcinogenesis-resistant (Car-R), selectively bred for extreme susceptibility or resistance to chemical skin carcinogenesis initiated and promoted with different doses of 7,12-dimethylbenz[a]anthracene (DMBA) and 12-O-tetradecanoylphorbol-13-acetate (TPA). This study also presents the analysis of c-Ha-ras gene mutations in 22 papillomas and 22 carcinomas in Car-S mice initiated with DMBA and promoted with benzoyl peroxide (BzPo) and in seven papillomas and one carcinoma from a group of uniniated Car-S mice that received only BzPo treatment. The data showed that a A(182)-->T transversion in the c-Ha-ras gene was present in 100% and 81% of the skin tumors developed in Car-S and Car-R mice, respectively, after DMBA initiation and TPA promotion, suggesting that differences in genetic susceptibility can influence the frequency of c-Ha-ras mutations in the skin tumors produced. The same A(182)-->T mutation with an incidence of 68% was found in papillomas from DMBA-initiated and BzPo-promoted Car-S mice. The difference in the mutation frequency between DMBA/BzPo and DMBA/TPA papillomas suggested that the promotion step contributes to the final mutation pattern. The tumor induction experiment with BzPo alone showed that this compound can induce tumor development in 26% of Car-S mice, and the molecular analysis of the tumors showed a broad mutation spectrum, including mutations in codons 12, 13, and 61 of the c-Ha-ras gene. Mol. Carcinog. 30:111-118, 2001.

Animals↗

Frequency and mortality of acute lung injury and acute respiratory distress syndrome after pulmonary resection for bronchogenic carcinoma.

OBJECTIVE: We reviewed the frequency and mortality of acute lung injury (ALI) and acute respiratory distress syndrome (ARDS) in our population of patients submitted to pulmonary resection for primary bronchogenic carcinoma. METHODS: From January 1993 to December 1999, a total of 1221 patients received pulmonary resection for primary bronchogenic carcinoma. Of these, 27 met the criteria of post-operative ALI/ARDS. There were 24 men and three women with a mean age of 64 years (range 45--79). Pre-operatively, predicted mean of PaO(2), PaCO(2) and %FEV1 were 72 mmHg (57--86), 37 mmHg (33--42) and 80% (37--114), respectively. Associated cardiac risk factors were present in eight patients. Three patients (11%) had pre-operative radiotherapy. Surgical-pathologic staging included 14 patients at Stage I, 8 patients at Stage II, four patients at Stage IIIa and one patient at Stage IIIb. RESULTS: ALI/ARDS occurred in 2.2% of our operated lung cancer patients. ALI was diagnosed in 10 patients and ARDS in 17 patients. The mean time of presentation following surgery was 4 days (range 1--10) and 6 days (1--13) for ALI and ARDS, respectively. According to the type of operation, the frequency was highest following right pneumonectomy (4.5%), followed by sublobar resection (3.2%), left pneumonectomy (3%), bilobectomy (2.4%), and lobectomy (2%). The frequency following extended operations was 4%. No differences were found between the ALI/ARDS group and the total population of resected lung cancer patients (control group) with respect to sex, mean age, pre-operative blood gases, %FEV1, surgical--pathologic staging and the use of pre-operative radiotherapy. Four patients with ALI (40%) and 10 patients with ARDS (59%) died. Mortality was highest following right pneumonectomy, extended operations and sublobar resections. Hospital mortality of the total population of operated lung cancer patients in the same period was 2.8% (34 patients). ALI/ARDS accounted for 41% of our hospital mortality. CONCLUSIONS: (1) ALI/ARDS is a severe complication following resection for primary bronchogenic carcinoma. (2) We did not detect any significant difference between the ALI/ARDS group and the control group regarding age, pre-operative lung function, staging and pre-operative radiotherapy. (3) ALI/ARDS is associated with high mortality, the highest mortality rates having been observed following right pneumonectomy and extended operation; it currently represents our leading cause of death following pulmonary resection for lung carcinoma. (4) ALI/ARDS may also occur after sublobar resections with an associated high mortality rate.

Carcinoma, Bronchogenic↗

Descending necrotizing mediastinitis: surgical management.

OBJECTIVE: Descending necrotizing mediastinitis (DNM) is a primary complication of cervical or odontogenical infections that can spread to the mediastinum through the anatomic cervical spaces. METHODS: Between April 1994 and April 2000, 13 patients, mean age 39.23+/-18.47 (median 38, range 16-67) years, with DNM were submitted to surgical treatment. Primary odontogenic abscess occurred in six, peritonsillar abscess in five and post-traumatic cervical abscess in two patients. Diagnosis was confirmed by computed tomography (CT) of the neck and chest. All patients underwent surgical drainage of the cervico-mediastinal regions by a bilateral collar incision associated with right thoracotomy in ten cases. RESULTS: Six patients out of 13 required reoperation. Two patients previously submitted only to cervical drainage required thoracotomy; four patients, which have been submitted to cervico-thoracic drainage, underwent contralateral thoracotomy in two cases and ipsilateral reoperation in two cases. Ten patients evolved well and were discharged without major sequelae; three patients died of multiorgan failure related to septic shock. Mortality rate was 23%. CONCLUSION: Early diagnosis by CT of the neck and chest suggest a rapid indication of surgical approach to DNM. Ample cervicotomy associated with mediastinal drainage via large thoracotomic incision is essential in managing these critically ill patients and can significantly reduce the mortality rate for this condition, often affecting young people, to acceptable values.

Abscess↗

Antral nodularity identifies children infected with Helicobacter pylori with higher grades of gastric inflammation.

BACKGROUND: The endoscopic pattern of antral nodularity is a peculiar finding in children with Helicobacter pylori infection. The aim of this study was to determine whether this finding is related to more severe gastritis. METHODS: One hundred seventy-four consecutive children (median age 8.7 years) referred for gastroscopy were studied. Biopsy specimens from the antrum and body of the stomach were taken to assess H pylori status, gastritis score, and lymphoid follicles. Clinical diagnosis, major symptoms and endoscopic findings were recorded. RESULTS: Eighty-four (48%) children (median age 10.5 years) had evidence of H pylori infection. The endoscopic pattern of antral nodularity was found only in children infected with H pylori (34/84, 40.5% vs. 0/90, 0%, p < 0.0001% 100% specificity, 40.5% sensitivity). Among all children infected with H pylori, the gastritis score was higher (p < 0.0001) in those with antral nodularity (n = 34) than in those without (n = 50). Completely normal gastric mucosal histology was never found in children infected with H pylori with antral nodularity. The presence and number of lymphoid follicles was strongly related to the finding of antral nodularity (p < 0.01). CONCLUSIONS: The endoscopic pattern of antral nodularity identifies children with H pylori infection, severe gastritis, and increased lymphoid follicles.

Biopsy↗

Mitochondrial DNA rearrangements in young onset parkinsonism: two case reports.

Parkinson's disease is a nosological entity of unknown origin for which, in some cases, a possible pathogenetic role for mitochondrial dysfunction has been postulated. Two young onset parkinsonian patients with mitochondrial DNA (mtDNA) deletions in skeletal muscle are reported on. Patient 1 also presented with increased blood creatine kinase and lactate concentrations and a family history which included a wide range of phenotypes affecting multiple systems. Patient 2 presented with multiple symmetric lipomatosis. Histopathological investigation showed ragged red fibres and COX negative fibres in muscle biopsies from both patients. The data support the hypothesis that mitochondrial DNA mutations may occur in some cases of parkinsonism, suggesting that a diagnosis of a mitochondrial disorder should be considered in the presence of consistent family history and clinical symptoms.

Adult↗

Sudden bilateral hearing loss and sporadic mitochondrial DNA deletion.

Several studies have indicated that a number of different mitochondrial DNA (mtDNA) mutations may be responsible for human pathologies. Sensorineural Hearing Loss (SNHL) may be associated with known syndromes (syndromal SNHL) or represent the only manifestation of mitochondrial damage (non-syndromal hearing loss). Moreover, mtDNA alterations may be responsible for aminoglycoside-induced deafness. We describe a patient harbouring a single sporadic mtDNA deletion, who presented with sudden adult-onset bilateral, although non-simultaneous SNHL, that was partially responsive to corticosteroids. Increased values of rest, and exercise, blood lactic acid were decisive for diagnosis, prompting muscle biopsy that revealed the mtDNA deletion. The case underscores the importance of investigating a mitochondrial disease in cases of SNHL of unknown origin and points out the importance of an increased blood level of lactic acid as a screening test.

DNA, Mitochondrial↗