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Biomedical subjects

P Toti

Publications and source records attributed to P Toti.

At least 19 recordsLinked to original sources
PubMed2006

Mortality from second tumour among long-term survivors of retinoblastoma: a retrospective analysis of the Italian retinoblastoma registry.

Survivors of retinoblastoma (Rb) are at high risk of dying from second malignant tumour. The occurrence of second malignant neoplasm (SMN) and related mortality in a cohort of 1111 cases from the Italian Retinoblastoma Registry was analysed, considering the possible role of both genetic and iatrogenic causes. Rb patients had a greater than 10-fold excess in overall mortality compared with the general population (standardized mortality ratio (SMR) 10.73, 95% CI 9.00-12.80). Their excess risk attributable to cancers other than Rb was 14.93 95% CI 10.38-21.49). Survivors of hereditary Rb had an SMR for all causes of 16.25 (95% CI 13.20-20.00), whereas their SMR for all cancers was 25.72 (95% CI 17.38-38.07). Survivors of unilateral sporadic Rb had an SMR of 4.12 from all cancers (95% CI 1.55-10.98) and a much higher excess for overall mortality (SMR 13.34, 95% CI 10.74-16.56). As expected, survivors of hereditary Rb had higher mortality from cancers of the bone (SMR 391.90, 95% CI 203.90-753.20) and soft tissue (SMR 453.00, 95% CI 203.50-1008.40), small intestine (SMR 1375.50, 95% CI 344.00-5499.70), nasal cavity (SMR 13.71, 95% CI 1.93-97.35) and cancers of the brain and central nervous system (SMR 41.14, 95% CI 13.2-127.55).

Cohort Studies↗
PubMed2006

Human placenta and fetal membranes express nerve growth factor mRNA and protein.

The present study investigated whether trophoblast, decidua and fetal membranes express nerve growth factor (NGF) mRNA and peptide. Tissue specimens were collected in the first and third trimester of pregnancy from women undergoing voluntary pregnancy interruption (no.= 6; from 8 to 12 gestational weeks) and from women having an elective caesarean section at term (no.= 6; week 39-40 of pregnancy). Using reverse transcriptase-polymerase chain reaction (RT-PCR), trophoblast, amnion/chorion and maternal decidua showed the expression of NGF mRNA both in early gestation and at term. By immunohistochemistry, the immunoreactive NGF was found in the cyto and syncytial trophoblast cells, chorionic mesodermic cells and in decidua. Vessel endothelial cells were stained in maternal compartments, while fetal vessels were unstained. These results, showing the expression and localization of NGF, support the current concept that human placenta is a potent neuroendocrine organ throughout gestation.

Decidua↗
PubMed2006

Pleomorphic adenoma of the lacrimal gland in an 18-year-old girl irradiated for bilateral retinoblastoma.

PURPOSE: To report a case of pleomorphic adenoma of the lacrimal gland following irradiation for bilateral retinoblastoma. MATERIALS AND METHODS: Case report. A 4-month-old girl, with bilateral retinoblastoma, underwent enucleation of the right eye, systemic chemotherapy and bilateral external beam irradiation with a lateral field. The right anophthalmic socket (because of infiltration of the optic nerve) and the left eye (for relapse) were irradiated;. 17 years later, she developed a mass in the superotemporal quadrant of the left orbit. The mass was completely excised. RESULTS: Pleomorphic adenoma is rare in children and teenagers; it usually presents as a painless, slow growing mass in healthy adults. In this case, it developed as a second primary tumor after irradiation for retinoblastoma.

Adenoma, Pleomorphic↗
PubMed2005

Germline mosaicism in Rett syndrome identified by prenatal diagnosis.

Rett syndrome is an X-linked neurodevelopmental dominant disorder that affects almost exclusively girls. The vast majority of cases are sporadic and are caused by de novo mutations in the MECP2 gene, located in Xq28. Only few familial cases have been reported: in four cases, the mother was an asymptomatic carrier and in other four cases, the germline mosaicism in the mother was postulated. Owing to the above reported cases of germline mosaicism, we decided to offer prenatal diagnosis to all expectant mothers with a Rett daughter despite the absence of the causative mutation in parents' blood. We describe here the outcome of the first nine cases of prenatal diagnosis followed by our center. In eight cases, the fetus did not carry the mutation. In one case, the female fetus did carry the same mutation of the affected sister. The couple decided to interrupt the pregnancy and to devolve fetal tissues for research purposes. Our results indicate that prenatal diagnosis should be proposed to all couples with a Rett daughter, even when the mutation is apparently de novo. Moreover, one positive prenatal test among the first nine cases indicates that germline mosaicism may be seriously considered for the assessment of recurrence risk during genetic counseling.

Adult↗
PubMed2005

Nestin expression in normal adrenal gland and adrenocortical tumors.

Human adrenocortical cells have been shown to express cytokeratins and vimentin. Nestin is an intermediate filament protein that is mainly expressed in the developing nervous system and that has been recently reported in rat adrenal gland as well. Using immunohistochemical and biochemical approaches, the present study demonstrates that nestin is constantly expressed in situ in the cortex of normal human adrenal glands. Nestin expressing cells were prevalently located in the zona reticularis but some positive cells could be spotted in the zona fasciculata as well. Moreover, patches of nestin-positive cells have been constantly detected on sections of cortical adenomas. In contrast, adrenal carcinomas displayed a variable number of nestin-immunoreactive cells that in some cases were virtually absent. Samples of renal clear cell carcinoma metastasis in the adrenals were also examined which did not show nestin-immunoreactivity. We propose that a positive nestin-immunoreaction could be useful in differential diagnosis of clear cell tumors in adrenal glands.

Adenocarcinoma, Clear Cell↗
PubMed2003

Human placenta and fetal membranes express follistatin-related gene mRNA and protein.

Activin A is a placental glycoprotein and possible biological actions during pregnancy, suggested by experimental data, are the modulation of cytotrophoblast differentiation, placental hormonogenesis and uterotonins secretion. Follistatin-related gene (FLRG) is a 70 amino acids protein which binds activin A with high affinity, and which modulates its biological effects on target tissues by preventing the activin A interaction with its receptors. The present study investigated whether trophoblast, decidua and fetal membranes express FLRG mRNA (by RT-PCR) and peptide (by immunohistochemistry). Tissue specimens were collected at first and third trimester of pregnancy, from patients undergoing voluntary pregnancy interruption (no.=6; from 8 to 12 gestational weeks) and elective caesarean section at term (no.=6; 39-40 weeks of pregnancy). FLRG mRNA was expressed by the various gestational tissues both at early gestation and at term pregnancy. Immunoreactive protein was found in the trophoblast cells, epithelial amniotic and chorionic cells and maternal decidua; nevertheless, the most intense FLRG stain was detected in the walls of decidual and placental blood vessels. In conclusion, FLRG mRNA and peptide are expressed by placenta and fetal membranes. Its different immunolocalization with respect to follistatin and activin A supports a different role for FLRG in modulating activin A actions into gestational tissues.

Adult↗
PubMed2001

Absence of the inferior labial and lingual frenula in Ehlers-Danlos syndrome.

The diagnosis of Ehlers-Danlos syndrome is based on distinctive phenotypical characteristics such as hyperelastic skin and hypermobile joints. To date, no congenital physical markers exist for identifying patients with Ehlers-Danlos syndrome. Absence of the inferior labial (100% sensitivity; 99.4% specificity) and lingual frenulum (71.4% sensitivity; 100% specificity) was found to be associated with classical and hypermobility types of Ehlers-Danlos syndrome.

Adolescent↗
PubMed2001

Early neonatal brain injury in histologic chorioamnionitis.

The relation between clinical or histologic chorioamnionitis and early neonatal adverse neurologic outcome was investigated (n = 483). Histologic, but not clinical, evidence of chorioamnionitis was found to be a significant predictor of periventricular echodensity (odds ratio, 2.4; 95% CI, 1.8-3.2), echolucency (3.3; 1.9-5.6), ventriculomegaly (2.7; 1.8-4.2), intraventricular hemorrhage > or =3 (3.5; 2.4-5.2), and seizures (2.3; 1.4-3.7).

Age Factors↗
PubMed2001

Infantile hypertrophic pyloric stenosis and asymptomatic joint hypermobility.

A significant association with asymptomatic joint hypermobility was observed in 37 children with a history of infantile hypertrophic pyloric stenosis (P =.0016) and their parents (mothers, P <.0001; fathers, P <.05). The subjects with articular hypermobility showed an increased frequency of absent mandibular frenulum, thereby suggesting the presence of a previously unrecognized, systemic abnormality of the extracellular matrix.

Extracellular Matrix↗
PubMed2001

Chorioamnionitis and fetal/neonatal brain injury.

Chorioamnionitis (CA) is the leading cause of preterm birth and neonatal complications. Even in the absence of a proven infection, fetuses and neonates present a systemic inflammatory response which can be identified by radiological and morphological examination of the thymus. The frequent occurrence of brain injury in neonates with CA is probably linked to systemic, unspecific mechanisms which have not yet been completely clarified. Only by relating placental pathology to clinical evaluation of the newborn will it be possible to achieve a better understanding of these infections and to reduce long-term morbidity and mortality.

Brain Diseases↗
PubMed2001

Cyclooxygenase-2 immunoreactivity in the ischemic neonatal human brain. An autopsy study.

Cyclooxygenase-2 (COX-2) is known to be expressed in rat brain and up-regulated by ischemia. The administration of COX inhibitors before as well as soon after the ischemic insult reduces the extension of cerebral damage in rats. Overexpression of COX-2 has also been shown in the ischemic brain of adult human patients, while no information concerning COX-2 expression in neonatal ischemia is available. Intrapartum asphyxia and perinatal brain injury may result in cerebral palsy, mental retardation or epilepsy. COX-2 expression in the brain of neonates delivered after severe birth asphyxia was investigated using immunohistochemistry. Meningeal vessel walls of term and preterm babies widely expressed COX-2 immunoreactivity, as did periventricular large vessels in preterms. A number of brain cells (mature and immature cortical, periventricular and basal ganglia neurons, and oligodendrocytes of the cerebral white matter in brains from term neonates) also expressed COX-2. The present findings suggest that COX-2 may take part in enhancing neonatal brain damage via different mechanisms, such as those involving excitotoxicity and production of reactive oxygen species.

Acute Disease↗
PubMed2000

Hepatitis C virus infection and myositis: a polymerase chain reaction study.

Muscle biopsy tissue from a patient with chronic hepatitis, who was hepatitis C virus (HCV) positive and showed slight weakness of the right arm and leg associated with increased serum creatine kinase levels, was studied using immunocytochemical and polymerase chain reaction (PCR) techniques. Muscle biopsy showed changes compatible with an inflammatory myopathy. Immunohistochemical studies included the use of monoclonal antibodies against human T lymphocytes, macrophages, immunoglobulins, major histocompatibility complex class I molecules (MHC-I), and the neoantigens of the terminal C5b-9 complement membrane attack complex (MAC). In addition to confirming the potential importance of cytotoxic T cells and MHC-I antigen expression in inducing muscle pathology, we demonstrated MAC deposition and the presence of HCV-RNA in the muscle of our patient, suggesting that direct involvement of the virus leading to complement activation might be important in inducing muscle damage.

Adult↗
PubMed2000

Acute thymic involution in fetuses and neonates with chorioamnionitis.

Chorioamnionitis represents the leading cause of preterm birth and related pathologic conditions as well as of fetal death and frequently occurs in symptom-free mothers. Recent radiologic findings have indicated that thymus size is significantly reduced in preterm infants born to mothers with subclinical, histologically proven chorioamnionitis. However, an accurate morphologic description of the thymus gland in fetuses and neonates with chorioamnionitis is lacking, although it is known that infection and other stress processes may cause lymphocyte depletion in the thymuses of infants and older babies (acute stress involution). We describe morphologic modifications in the thymus of fetuses with histologically proven chorioamnionitis and newborn infants with chorioamnionitis and proven sepsis. The main findings included (1) decreased organ volume (ANOVA, P < .0024); (2) reduced corticomedullary ratio (P < 10(-6)); (3) significant changes in the relationship between thymic parenchyma and thymic interstitial tissue with resulting increased organ complexity (P = .03); (4) severe reduction of thymocytes; and (5) other degenerative processes such as monocyte/macrophage infiltration of Hassall's bodies. These results indicate that chorioamnionitis, with or without sepsis, is associated with significant morphologic modifications in the thymus. We wish to note that the described thymic pathology is only one aspect of the fetal systemic inflammatory response syndrome with which chorioamnionitis is associated.

Abortion, Spontaneous↗
PubMed1999

Congenital cystic adenomatoid malformation of the lung associated with esophageal atresia and tracheoesophageal fistula.

Bronchopulmonary malformations associated with esophageal atresia (EA) and tracheoesophageal fistula (TEF) are extremely rare. The authors describe a case of type II congenital cystic adenomatoid malformation (CCAM) of the right lower lobe associated with EA and TEF (Vogt-Gross type C) in a full-term female infant. The CCAM presented as an incidental radiologic finding, and a contralateral tension pneumothorax developed shortly after surgical repair of the EA. Early recognition of this rare association is essential for correct operative management.

Cystic Adenomatoid Malformation of Lung, Congenita↗
PubMed1999

Scarring in papillary carcinoma of the thyroid: report of two new cases with exuberant nodular fasciitis-like stroma.

AIMS: To describe two new cases of papillary carcinoma of the thyroid with exuberant nodular fasciitis-like stroma, one of which was characterized by previously unreported transformation into a poorly differentiated lesion. Moreover, we explore the presence of TGF-beta to help to clarify the pathogenesis of the collagen formation. METHODS AND RESULTS: The case characterized by an aggressive behaviour exhibited areas of transformation into a poorly differentiated (insular) carcinoma of the thyroid. In both cases, as revealed by immunohistochemistry, neoplastic cells produced and secreted high amounts of TGF-beta. On the contrary, TGF-beta immunoreaction was never present in the normal thyroid or in papillary carcinomas without collagen bundles, while a weak, exclusively intracellular reaction was present in a patchy manner in cases showing intratumoral fibrous bundles. CONCLUSIONS: The rare variant of papillary thyroid carcinoma characterized by exuberant stroma may give rise to more aggressive lesions, as do other histotypes of differentiated thyroid carcinomas. TGF-beta, the fundamental cytokine which mediates scarring and activation of myofibroblasts, most probably induces the exuberant stroma.

Adult↗