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S Di Mauro

Publications and source records attributed to S Di Mauro.

At least 19 recordsLinked to original sources
PubMed2006

A novel system for large-scale gene expression analysis: bacterial colonies array.

In the present work, we report the use of bacterial colonies to optimize macroarray technique. The devised system is significantly cheaper than other methods available to detect large-scale differential gene expression. Recombinant Escherichia coli clones containing plasmid-encoded copies of 4,608 individual expressed sequence tag (ESTs) were robotically spotted onto nylon membranes that were incubated for 6 and 12 h to allow the bacteria to grow and, consequently, amplify the cloned ESTs. The membranes were then hybridized with a beta-lactamase gene specific probe from the recombinant plasmid and, subsequently, phosphorimaged to quantify the microbial cells. Variance analysis demonstrated that the spot hybridization signal intensity was similar for 3,954 ESTs (85.8%) after 6 h of bacterial growth. Membranes spotted with bacteria colonies grown for 12 h had 4,017 ESTs (87.2%) with comparable signal intensity but the signal to noise ratio was fivefold higher. Taken together, the results of this study indicate that it is possible to investigate large-scale gene expression using macroarrays based on bacterial colonies grown for 6 h onto membranes.

Algorithms↗
PubMed2004

Ischemic stroke and fibrinogen in the elderly.

Senescence is accompanied by an important increase in prevalence and incidence of ischemic stroke. The plasma level of fibrinogen tends to increase with age in the elderly similarly to the prevalence of stroke. The aim of our study was to evaluate the age-related increase in fibrinogen plasma level in the elderly and to assess the presence of eventual differences between normal subjects and patients with previous ischemic stroke associated with precerebral atherosclerosis. Eighty inpatients (41 males and 39 females), consecutively admitted to our Geriatric Unit, were included to this study. The patient group was formed 32 subjects (20 males and 12 females) aged 50-79 years, suffering from cerebrovascular disease with one or several previous ischemic stroke episodes, having occurred at least 1 year earlier. The control group consisted of 48 normal subjects (21 males and 27 females) aged 50-79 years. Both control and patient groups were subdivided into three subgroups, according to their age: Group 1 (50-59 years), Group 2 (60-69 years)and Group 3 (70-79 years). The statistical comparison was carried out by means of the Mann-Whithney nonparametric test. In normal controls, a mild age effect is evident because only Group 3 shows fibrinogen levels significantly higher than those of Group 1. On the contrary, in patients with ischemic stroke, an age effect is already evident between Group 2 and Group 1; of course, also the comparison between patient Group 3 and Group I shows a statistically significant difference. Moreover, the levels of fibrinogen were significantly increased in patient Group 2 and 3 when compared to those of their respective age-matched controls. Our data are in agreement with those already available in the literature and demonstrate that fibrinogen in normal aging changes with age and shows a 19 %increase between age Group 1 and Group 3. Patients with ischemic stroke show an earlier and more evident age-related increase in fibrinogen than normal controls. Even if it is not possible to know, if the increase in fibrinogen is a consequence or not of the ischemic stroke, we can affirm that certainly the increased levels of fibrinogen should be considered as an important risk factor in the elderly for cerebrovascular disease and deserve treatment.

Aged↗
PubMed2004

[Nutritional habits and colon-rectal tumours].

Following a review of the literature, the relationship between diet and the onset of colorectal cancer is analysed starting from the consideration that in Italy about 20,000 people every year from carcinoma of the colon and 50% of these do not survive. The authors proceed to analyse the epidemiological data which point to diet as an aetiological factor in the cancerogenesis of a variety of tumours in spite of the fact that none of the individual nutritional components has been specifically identified as a triggering and/or protective agent, with the exception perhaps of alcohol in the cancer-cirrhosis sequence. They conclude by stating that, while continuing to give the correct importance to integrated surgical, chemo and radio treatment, to prevent the onset of tumours of the large intestine it is useful to associate the support of a complete nutritional education, which should be begun as soon as possible, with the canonical screening techniques. This educational programme should stress the importance of diet as a contributor of protective principles such as fruit, vegetables, vitamins and non-absorbable fibres which reduce contact time between the carcinogenic substances derived from a prevalently meat diet (cholesterol stimulates the production of biliary salts by increasing the quota of taurodesoxycolic and lithocolic acid and other carcinogenic factors represented by conservants and chemical additives such as nitrates and nitrites which can have a carcinogenetic activity) and the intestinal mucosa.

Colorectal Neoplasms↗
PubMed2003

Antibodies against ox-LDL serum levels in patients with hepatocellular carcinoma.

AIM: Hepatocellular carcinoma (HCC) is a malignancy with high incidence worldwide. The related cachexia is induced by proinflammatory cytokines, responsible for a wide number of metabolic disorders, essentially including lipidic and oxidative metabolism. Oxidized LDL (ox-LDL), produced by LDL-cholesterol oxidation, are one of the risk factors for atheromatosis. Also, ox-LDL act on the deliverance of some cytokines involved in the development and progression of a lot of human tumours. The removal of ox-LDL from the blood is performed by the liver. The intracellular amount of ox-LDL, through various cytokines, might induce HCC by reduction of the apoptotic mechanism of protection. Our aim was to evaluate the behaviour of serum antibodies against ox-LDL levels in order to study their possible changes and influences on a study series composed of HCC patients. METHODS: We enrolled 41 patients (29 males, mean age 67.45+/-8.28 years and 12 females, mean age 64.62+/-7.2 years) with primitive HCC and 30 healthy control subjects (15 males and 15 females, mean age 61.86+/-2.51 years). Diagnosis of HCC was performed on the basis of clinical, laboratory and instrumental findings (Ultrasonography, Computed Tomography and Magnetic Nuclear Resonance, liver biopsy). Of the 41 HCC patients, 30 were affected by hepatitis C virus (HCV), 5 were HBsAg and HBcAg positive and 6 virus B and C negative but consumers of more than 150 g/day of alcohol. Liver biopsy confirmed the presence of HCC derived from cirrhosis in 10 of HCV positive patients, as well as in the patients with high alcohol consumption. Serum IgG antibodies versus the ox-LDL levels have been evaluated by ELISA method and oLAB reactive by Biomedica-Austria. Data have been analysed by 2 tailed Student's "t" test and a value of p<0.05 was considered significant. RESULTS: Lipid pattern values were within the normal ranges except for the Lp(a), that presented low serum levels in both groups. Twenty-five patients presented HCC as well as severe chronic active hepatitis. Serum mean levels of ox-LDL antibodies (ox-LDL Ab), still being within the normal ranges, were significantly lower than in control subjects (p<0.001) in both sexes. CONCLUSION: We hypothesize that the lower ox-LDL Ab serum levels in our HCC patients may be related to the smaller feeding of HCC patients or to the greater uptake of these modified lipoproteins by the hepatic reticular endothelial system. This phenomenon might result especially in the release of cytokines and growth factors for hepatocytes that may induce HCC development and progression.

Aged↗
PubMed2001

Coenzyme Q10 reverses pathological phenotype and reduces apoptosis in familial CoQ10 deficiency.

Two brothers with myopathic coenzyme Q10 (CoQ10) deficiency responded dramatically to CoQ10 supplementation. Muscle biopsies before therapy showed ragged-red fibers, lipid storage, and complex I + III and II + III deficiency. Approximately 30% of myofibers had multiple features of apoptosis. After 8 months of treatment, excessive lipid storage resolved, CoQ10 level normalized, mitochondrial enzymes increased, and proportion of fibers with TUNEL-positive nuclei decreased to 10%. The authors conclude that muscle CoQ10 deficiency can be corrected by supplementation of CoQ10, which appears to stimulate mitochondrial proliferation and to prevent apoptosis.

Adolescent↗
PubMed2001

Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome C oxidase deficiency.

Cytochrome c oxidase (COX) deficiency is one of the major causes of Leigh Syndrome (LS), a fatal encephalopathy of infancy or childhood, characterized by symmetrical lesions in the basal ganglia and brainstem. Mutations in the nuclear genes encoding COX subunits have not been found in patients with LS and COX deficiency, but mutations have been identified in SURF1. SURF1 encodes a factor involved in COX biogenesis. To date, 30 different mutations have been reported in 40 unrelated patients. We aim to provide an overview of all known mutations in SURF1, and to propose a common nomenclature. Twelve of the mutations were insertion/deletion mutations in exons 1, 4, 6, 8, and 9; 10 were missense/nonsense mutations in exons 2, 4, 5, 7, and 8; and eight were detected at splicing sites in introns 3 to 7. The most frequent mutation was 312_321del 311_312insAT which was found in 12 patients out of 40. Twenty mutations have been described only once. We also list all polymorphisms discovered to date.

Amino Acid Sequence↗
PubMed2001

Immunosenescence: a review.

Aging involves the morphological and functional integrity of all organs, including the cellular and humoral immunological functions. The main alterations can be listed as follows: (i) Thymic involution resulting in the decreased number of lymphoid precursor T- and B-cells. (ii) Reduced proliferative capacity of T-cells; loss of lymphocyte subgroups as a consequence of the shortening of telomeres. (iii) Qualitative deficiency of B-lymphocytes with a reduced response to exogenous antigens. (iv) Compromised activity of the accessory cells, both directly by depressing the chemotactic and phagocytic responses, and indirectly by increasing the prostaglandin production which inhibit the proliferation of T-cells. (v) Alterations in the production and secretion of various cytokines. (vi) Other factors like the general physiological conditions, the nutritional state, psychological habit and various hormone levels.

Journal Article↗
PubMed2001

Immunosenescence and cancer: a review.

The human neoplastic pathologies are age-dependent. The increased occurrence of tumors observed with advancing age may be determined by the accumulation of certain phenomena promoting different phases of neoplastic processes. In these events, important roles can be attributed to mutations of the genome that accumulate during aging and to the immunosenescence. It may be hypothesized that certain tumors controlled by the immune system may become more frequent in the elderly as a consequence of the decreased functionality of this important defense system of the organism. Nevertheless, the problems of the interrelationships between the immunosenescence and tumors are seriously contradictory. Therefore, on the one hand, one has to establish how much the immunodeficit of the elderly patient may be responsible for the neoplastic pathology, while on the other hand, one cannot neglect important environmental and pathophysiological factors in these cases.

Journal Article↗
PubMed2001

[Trans-anal resection of low rectal neoplasms].

BACKGROUND: The rising incidence of colorectal neoplasms, and in particular those localised in the lower rectum is stressed and the therapeutic opportunities offered by the trans-anal resection technique are underlined. METHODS: The indispensable conditions for adopting a surgical approach are pointed out. These are identified as the size of the neoplasm, which should not exceed 4 cm, the fixity, site, the polypoid and non-ulcerated nature of the lesion, and the involvement of not more than 1/4 of the circumference of the bowel. Using these inclusion criteria, the authors operated on five patients in the 4th Division of General Surgery at G. Martino Polyclinic in Messina, using trans-anal resection of low rectal neoplasm. RESULTS: No hemorrhagic complications or lesions in the visceral wall occurred. All patients underwent a follow-up of up to 36 months and to date no patient has presented long-term metastasis; local recidivation was observed in one patient after 14 months and this was treated using the trans-anal method. CONCLUSIONS: The authors affirm that trans-anal resection may be regarded as the elective treatment of patients with neoplasms confined to the visceral wall and without dissemination; it is palliative in cases where the tumour is larger than 4 cm, with lymph node involvement. But even in this case, and in more advanced situations, this method allows mortality due to occlusive complications to be reduced and ensures a better quality of residual life.

Adenocarcinoma↗
PubMed2001

[Use of monofilament prosthesis in inguinal hernia treatment: cost-benefit ratio].

BACKGROUND: The authors aimed to demonstrate the real advantages in terms of cost and patient comfort of inguinal hernia surgery using monofilament prostheses. METHODS: A retrospective survey was carried out on two groups of patients: the first group, consisting of 1032 patients who underwent inguinal hernia surgery under general anesthetic between 1985 and 1995 at the Institute of General Surgery at the University Polyclinic of Messina, included cases of both emergency and elective surgery that did not use monofilament prosthesis. The second group, consisting of 348 patients operated under local anesthesia between 1996 and 1999 at the IV Division of General Surgery at the University Polyclinic of Messina, included cases of both emergency and elective surgery using tension-free techniques and polypropylene mesh. The numbers of recidivations and complications were compared, together with the relative costs of the methods used in both groups. CONCLUSIONS: In the light of these experimental results, it is clear that the use of biocompatible alloplastic materials in monofilament considerably reduces the risks of recidivation, without no significant increase in the number of dehiscences, infections or postoperative complications. Moreover, there was a striking reduction in costs linked not only to the shorter hospitalisation of patients and the reduced use of painkillers, but also a fall in the number of future hospital admissions owing to recidivation.

Cost-Benefit Analysis↗
PubMed1999

Two cases of prenatal analysis for the pathogenic T to G substitution at nucleotide 8993 in mitochondrial DNA.

We report the outcome of two prenatal analyses for the T to G mutation at nucleotide 8993 in the mitochondrial DNA. This mutation is associated with neurogenic muscle weakness, ataxia and retinitis pigmentosa (NARP) and the neurodegenerative condition, Leigh syndrome. One prospective mother was the sister of a severely affected individual, and had previously had an unaffected child and a stillborn child. The second prospective mother had two unaffected children and two affected children. The mutation was not detected in the chorionic villus sample from one fetus nor in the amniocytes from the other fetus. Both pregnancies were continued, and the resulting children were healthy at two years and five years of age. Prenatal diagnosis of this mitochondrial DNA mutation is an option likely to be acceptable to some families to prevent the birth of a child at high risk for neurological disease.

Adult↗
PubMed1994

Ophthalmoplegia, demyelinating neuropathy, leukoencephalopathy, myopathy, and gastrointestinal dysfunction with multiple deletions of mitochondrial DNA: a mitochondrial multisystem disorder in search of a name.

This article describes a 37-year-old woman with progressive external ophthalmoplegia, peripheral neuropathy, and chronic intractable diarrhea. Laboratory studies disclosed lactic acidosis, ragged red fibers lacking cytochrome c oxidase, high-normal muscular mitochondrial enzymes, demyelinating neuropathy, leukoencephalopathy and multiple mitochondrial DNA deletions. This is the fourth patient described with this clinical syndrome, which represents a separate entity among multisystemic mitochondrial disorders. The patient described here is the first with this syndrome to have multiple mitochondrial DNA deletions.

Adult↗
PubMed1993

[Carcinoma of the gallbladder. State of the art].

The authors examine the most interesting data about gallbladder cancer. They emphasize the difficulties of an useful approach to this pathology: an early diagnosis is quite impossible and the surgical treatment very disappointing.

Female↗
PubMed1991

Dominantly inherited mitochondrial myopathy with multiple deletions of mitochondrial DNA: clinical, morphologic, and biochemical studies.

We studied a large family with a dominantly inherited mitochondrial myopathy characterized by progressive external ophthalmoplegia, dysphagia, cataract, lactic acidosis, exercise intolerance, and early death. Morphologic studies of muscle biopsies suggested mitochondrial heteroplasmy and revealed ragged-red fibers and decreased histochemical reactions for cytochrome c oxidase and succinate dehydrogenase. Biochemistry showed a partial defect of cytochrome c oxidase and a mild generalized reduction of other mitochondrial enzymes requiring mitochondrial DNA-encoded subunits. Southern blot analysis and PCR amplification showed mitochondrial DNA deletions in muscle of all affected members, but not in lymphocytes or fibroblasts, suggesting a tissue-specific distribution. Deletions were multiple and seemed to increase with time and to correlate with the severity of the disease.

Adult↗
PubMed1991

Clinical syndromes associated with ragged red fibers.

Among 40 patients with ragged red fibers in muscle biopsy, all but two met criteria for one of the recognized mitochondrial myopathies: Kearns-Sayre syndrome (6 patients); other ophthalmoplegias (17): MELAS (3); MERRF (2); limb myopathy (5); and exercise intolerance (3). Two patients had MNGIE (mitochondrial myopathy with neuropathy, gastrointestinal symptoms and encephalopathy) and one had spinal muscular atrophy. The myopathy had features of facioscapulohumeral dystrophy in 4 patients. This analysis provides 4 lines of evidence to reinforce the view that, despite occasional "overlap" cases, distinct syndromes can be recognized. First, there are clinical differences. Second, KSS is almost never familial but MELAS and MERRF are often familial. Third, in this series, as in others, all deletions of mtDNA were found in patients with either KSS or non-familial PEO. With a possible single exception, none of the familial cases had KSS and no familial cases included a deletion of mtDNA. Others have found evidence of mtDNA point mutations in MERRF, and maternal inheritance suggests that point mutations will be found in MELAS. Finally, postmortem findings differ in KSS, MELAS, and MERRF. For all of these reasons, we believe it is useful to separate cases on clinical grounds. Deletions and point mutations of mtDNA are becoming defining characteristics of these syndromes.

Adult↗