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F Torricelli

Publications and source records attributed to F Torricelli.

34 records · Page 2Linked to original sources
PubMed1992

Sister-chromatid exchanges in human lymphocytes induced by dimethoate, omethoate, deltamethrin, benomyl and their mixture.

Dimethoate and omethoate, two common organophosphorus insecticides, induced a dose-related increase in the frequency of sister-chromatid exchanges (SCEs) in human lymphocytes in vitro (P of the regression lines less than 0.01). Two other common pesticides, the pyrethroid insecticide deltamethrin and the systemic fungicide benomyl, induced a modest increase in SCEs which bordered on statistical significance (P = 0.053 and 0.055, respectively). Mixtures of the four pesticides at total concentrations of 41.5 and 83 micrograms/ml (composed of 43% dimethoate, 43% omethoate, 12% deltamethrin and 1.2% benomyl) induced a dose-dependent increase in SCEs (P less than 0.01). The effects of these mixtures of pesticides were variable using lymphocytes from different individuals, although these differences did not attain statistical significance. Moreover, low concentrations of the four pesticides that did not increase SCEs significantly when tested alone, were positive for SCE induction when tested as a mixture. The experiments show that sub-threshold doses of pesticides may increase SCEs when present in a mixture.

Adult↗
PubMed1991

Ring chromosome 14 syndrome. Report of two cases, including extended evaluation of a previously reported patient and review.

A case of r(14) chromosome is described and new information is added to a previously reported patient. The r(14) syndrome is reviewed on the basis of 37 known patients. The major features include prenatal and postnatal growth retardation, mental retardation, seizures, microcephaly, and distinct facial dysmorphism, including elongated face, narrow palpebral fissures, epicanthus, and broad nasal bridge. Other characteristic anomalies found only in some patients are retinal anomalies, lymphoedema of hands and feet, and prones to pulmonary infections.

Chromosomes, Human, Pair 14↗
PubMed1987

[Y chromosome abnormalities and azoospermia. Description of 2 cases].

We describe clinical features and laboratory findings in two azoospermic males with a large Yq deletion involving both the fluorescent and part of the non-fluorescent segment. This report give strong support to the localization of fertility factors in the euchromatic Yq portion.

Adult↗
PubMedDate not supplied

Genetic toxicity of a mixture of fifteen pesticides commonly found in the Italian diet.

To determine the toxicological effects of complex mixtures of pesticides, we obtained data on 100 pesticide residues in common foods of central Italy. Fifteen pesticides were more regularly detected at higher levels (dithiocarbamates, benomyl/carbendazim, thiabendazole, diphenylamine, chlorthalonil, procymidone, fenarimol, chlorpropham, vinchlozolin, methidathion, chlorpyriphos-ethyl, parathion-methyl, parathion, chlorfenviphos, pirimiphos-ethyl). Using itemized data on daily food consumption in Italy, we calculated that the average exposure for an adult subject was 716 micrograms/day, ranging from 148 micrograms of dithiocarbamates to 1 microgram of pirimiphos-ethyl. We made a mixture of these 15 pesticides at concentrations proportional to the ratio determined in foods and tested it with the Salmonella-microsome assay, with and without metabolic activation with PCB-induced rat liver S9. No mutagenic activity was observed at concentrations up to 500 micrograms/plate. We also tested the same mixture at concentrations ranging from 0.1 to 20 micrograms/ml on human lymphocytes in vitro, and observed a slight but statistically significant increase in sister-chromatid exchanges at 1 microgram/ml. We also administered the mixture in corn oil by gavage to Wistar rats at doses of 1, 10, and 100 micrograms/kg. After 24 hr the ratio between bone marrow polychromatic and normochromatic lymphocytes (a sign of cellular toxicity) was decreased by the exposure, but we did not observe a significant increase in the frequency of micronuclei. We conclude that the pesticide mixture did not have appreciable genotoxic activity in the assays used.

Adult↗
PubMedDate not supplied

Inherited susceptibility to aminoglycoside ototoxicity: genetic heterogeneity and clinical implications.

PURPOSE: Aminoglycoside-induced ototoxicity appears to have a genetic susceptibility in some individuals, and the A1555G mutation in the mitochondrial 12S ribosomal RNA gene has been shown to be responsible for this susceptibility in all familial cases. An Italian family with 5 family members who became deaf after aminoglycoside exposure presented to us, and molecular analysis excluded the A1555G mutation. The purpose of this study is to identify the molecular basis for the aminoglycoside susceptibility in this family. PATIENTS AND METHODS: Two sisters and three of their children developed severe to profound high-frequency hearing loss after aminoglycoside exposure. DNA was extracted from the blood of these individuals and their unaffected relatives, and analyzed for mitochondrial DNA mutations. The region around nucleotide 961 was also cloned and individual clones were sequenced. RESULTS: Sequencing of the 12S ribosomal RNA gene revealed a thymidine deletion at position 961, with a complex pattern of sequence around this mutation. Sequencing of individual clones around the 961 mutation demonstrated a varying number of inserted cytosines in different mitochondrial molecules. CONCLUSION: This family establishes the nucleotide 961 thymidine deletion associated with a varying number of inserted cytosines in the mitochondrial 12S ribosomal RNA gene as the second pathogenic mutation that can predispose to aminoglycoside ototoxicity. It demonstrates the clinical relevance of taking a family history before administering aminoglycosides to any patient. In addition, it would be desirable for sporadic patients with aminoglycoside-induced hearing loss to be screened with molecular tests for the presence of the 1555 and 961 mutations. Such screening could significantly decrease the prevalence of aminoglycoside-induced hearing loss.

Adult↗
PubMedDate not supplied

Occurrence of full-thickness macular hole complicating Stargardt disease with ABCR mutation.

PURPOSE: To report an unusual episode of full-thickness macular hole complicating Stargardt disease with an ABCR mutation. METHODS: Case report . RESULTS: Fundus examination of a 20-year-old healthy man showed typical fundus manifestation with yellowish-round or fish-like flecks associated with vitreous macular adhesion and a round punched-out area in the right eye. Optical coherence tomography (OCT) illustrated a full-thickness macular hole. Molecular genetic examination of the ABCR gene showed two heterozygous missense mutations: R1108C (CGC-->TGC) in exon 22 and a splicing mutation IVS6--> 1GT - described in the literature in association with Stargardt disease. CONCLUSIONS: Macular hole was once described in other inherited retinal degenerations (Best disease and Bietti crystal line retinopathy). The pathogenesis gives rise to a host of speculations: widespread alteration of the retinal pigment epithelium; inflammatory mechanisms; a minor trauma which might cause subretinal fibrosis. Surgical procedures were not performed on our patient after his ophthalmologic history and findings were considered.

ATP-Binding Cassette Transporters↗
PubMedDate not supplied

[Genetic anomalies of pancreatic carcinoma and clinical applications].

Pancreatic cancer is a dismal disease. The 5-years overall survival ranges from 1% to 5%. Surgery is the only curative treatment available. Survival of selected patients with small lesion (< 2 cm) confined to the pancreas is improved to 19-41%. Presently the major effort is on studies of the cancer development phenomena to improve detection of patients with early lesions. The analysis of oncogene and tumor-suppressor gene activation may enable us to better define and cure this disease. Molecular genetic new tecnquiques performed on pancreatic juice, duodenal juice and stool, probably are the most promising new approach for early diagnosis of pancreatic cancer. This could be the right path to diagnose pancreatic malignant lesions at a curable stage, and to discriminate patients with a more favourable prognosis candidates to be submitted to adjuvant therapy with a curative intent, and also to discriminate real pancreatic cancer from patients with chronic pancreatitis.

Humans↗
PubMedDate not supplied

[Clinical inferential process in psychoanalysis].

OBJECTIVE: Despite the highest importance of studying the inferential process in psychotherapy, few systematic studies deal with the ways in which psychotherapists work with the material offered by their patients and construct clinical hypotheses about it. The purpose of this study is to present empirical findings about similarities and differences in the way psychoanalysts from different theorethical orientations and level of clinical experience produce their clinical inferences. METHODOLOGY: The sample includes 20 psychoanalysts selected according to their theoretical orientation (Freudian and Lacanian psychoanalysts) and their level of clinical experience (less than ten years and more than twenty years of clinical practice). They listened to the same tape-recorded first session of psychotherapy and were asked to report their clinical hypotheses, clues, and hunches about the material. They also answered a questionnaire about their inferential work. RESULTS: Freudian psychoanalysts produced more single hypothesis and the same number of combined hypothesis than lacanian psychoanalysts. The level of experience was a factor when it came to producing combined hypothesis, no matter their theoretical framework. 90 per cent of the interviewed made their first clinical inference before the first 9 minutes of the session (regardless of their experience and framework), and agreed on the core themes of the clinical case. CONCLUSIONS: there are similarities and differences in the inferential work according to the theoretical orientation and clinical experience of the psychoanalysts. Their level of experience has a positive matching with their capacity to produce more combined inferences. Most of the clinical inferences are psychological and relational, and they are produced at the very beginning of the session.

Adult↗
PubMedDate not supplied

[Part-time work at a hospital: study of atypical workers].

According to act 626/1994, employers have the duty to inform and train workers and their representatives. The implementation of training activities requires the following points: planning the training progra according to the needs of the target population, use of the methods aimed at promoting learning and the adoption of safe behaviour, setting-up of evaluation tools. The disciplines of risk perception and communication and adult training may provide useful contribution in this frame. At the light of the preliminary experiences in this field, the importance of the following items for workers, workers representatives and employers is emphasized: probabilistic causality models, role of cognitive and emotional factors in the learning process, definition of carcinogenic according to national and internationals organisation, meaning of TLV with respect to carcinogenic exposure, interaction between carcinogens in the case of multiple exposition, risk evaluation, preventive measures, transfer of carcinogen risk from workplace to domestic environment, due to lack of compliance with basic hygienic rules such proper use of work clothes.

Adult↗
PubMedDate not supplied

Evaluation of maternal serum alpha-fetoprotein and ultrasound examination to screen fetal chromosomal abnormalities.

Maternal serum alpha-fetoprotein (MSAFP), anatomic anomalies and precocious defects of foetal growth were shown as possible "indicators" of foetal chromosomal pathology, in particular Down's syndrome, and thus suggested for prenatal screening of risk patients for this chromosomal abnormalities. The Authors carried out a retrospective study on 1472 patients who underwent amniocentesis for prenatal diagnosis. Between the 15th and the 20th week, a dosage of MSAFP was effected, in order to evaluate if the serum concentration of this substance could predict Down's syndrome. A contemporary study by echographic monitoring was effected on 500 patients from the 1st trimester of pregnancy, in order to detect possible foetal growth retardation precociously and to determine the karyotype in these cases. Results are very interesting and suggest both the dosage of MSAFP and the ecographic monitoring for prenatal screening of trisomy 21, especially in maternal age classes younger than 40 years, where the cost/benefit ratio of screening for maternal age is less favourable.

Adult↗
PubMedDate not supplied

Identification of hematopoietic progenitor cells in human amniotic fluid before the 12th week of gestation.

Due to technical difficulties in performing amniocentesis before the 12th week of pregnancy, very little is known about the components of human amniotic fluid before that time. Amniocentesis was performed between the 7th-11th week of gestation in 25 informed and consenting patients, who had to undergo therapeutic interruption of pregnancy. The cells from the amniotic fluid were stained, counted on a hemocytometer, and checked for vitality. The origin of these cells was determined from cellular cultures the intracellular content of the hemoglobin and the chloroacetate esterase content of the hemoglobin and the chloroacetate esterase contents were also studied. Taking advantage of the "in vitro" adhesive properties of these cells to the bone marrow stromal feeder layer, we obtained clonal growth of an erythroid nature from 18 out of 33 samples. At the 17th week of gestation, an increased number of cells and a decrease in their vitality was found. Between the 7th and 12th week, the cellular composition of the fluid was totally different from that found later in the pregnancy. Small nucleated, round cells were identified as hematopoietic progenitor cells. At the beginning of the 11th week, a cellular population, typically used to perform prenatal diagnosis of chromosomal abnormalities from the 14th week of pregnancy appeared. Since hematopoietic progenitor cells were found in the amniotic fluid before the 12th week of gestation, these cells most probably come from the hematopoietic cells of the yolk sac through the thin membrane of the yolk sac at this time.

Amniotic Fluid↗
PubMedDate not supplied

Familial AL-amyloidosis in three Italian siblings.

BACKGROUND AND METHODS: Familial occurrence of immunoglobulin-related (AL) amyloidosis has occasionally been reported. In this work we describe the concomitance of systemic amyloidosis and monoclonal gammopathy (one case of Waldenström's macroglobulinemia and two cases without multiple myeloma or related diseases) in three Italian siblings, two males and one female. RESULTS AND CONCLUSIONS: All of them showed a common pattern of polyneuropathy to different degrees; two presented a sicca syndrome and one also suffered from nephropathy. Two of them showed the same HLA typing with the same light chain type (k), but had different presenting symptoms. Polyneuropathy and a history of peptic disease in two cases was suggestive of type III familial amyloidotic polyneuropathy (FAP) occurring in the setting of a familial monoclonal component. However, immunohistochemical studies on different tissue specimens using anti-apolipoprotein A1 and anti-transthyretin antibodies were negative. Further screening of DNA samples for transthyretin (TTR) gene mutations was also negative. Clinical and laboratory investigations ruled out reactive or senile amyloidosis and immunohistochemical studies with anti-light chain antibodies on amyloidotic tissue specimens were positive. As a consequence, this family represents a new case of familial AL-amyloidosis.

Aged↗