Analysis of GSTP1-1 polymorphism using real-time polymerase chain reaction.

Background: Glutathione transferases (GSTs) play an important role in the protection of cells from the products of oxidative stress as well as from several environmental carcinogens. The GSTP1-1 gene class is significantly overexpressed in many human tumors. Four allelic variants have been described for the GSTP1-1 gene (*A, *B, *C, *D) leading to different amino acid substitutions in position 105 and 114 of the protein sequence.

Cytogenetic alterations in lymphocytes of Alzheimer's disease and Parkinson's disease patients.

We investigated the presence of cytogenetic alterations in peripheral blood lymphocytes of Alzheimer's disease (AD) and Parkinson's disease (PD) patients. Detection of spontaneous structural and/or numerical chromosome damage has been assessed by micronucleus (MN) assay coupled with fluorescence in situ hybridization (FISH). The cytogenetic investigation was performed on 22 AD patients, 18 PD patients, and 20 controls.

Amantadine in Huntington's disease: open-label video-blinded study.

Huntington's disease (HD) is characterized by chorea, cognitive and behavioral changes. Amantadine, a non-competitive NMDA receptor antagonist, has shown an antidyskinetic effect on levodopa-induced dyskinesias, which are known to have strict pathogenetic analogies with choreic hyperkinesias. The antidyskinetic efficacy of amantadine and its effects on cognitive and behavioural symptoms were evaluated.

[Prognostic value of tumor location of urothelial tumors of the bladder, after total cystectomy].

Objective: Comparison of the various treatment protocols for bladder cancer requires identification of survival prognostic factors. Some clinical parameters, such as tumour sub-site, have still not been studied. The authors therefore analysed the prognostic value of this factor, in combination with known prognostic factors, after radical cystectomy for urothelial bladder tumour.

Genotype-phenotype correlation in italian patients with dystrophic epidermolysis bullosa.

Dystrophic epidermolysis bullosa (DEB) is a rare skin disorder that is clinically heterogeneous and is transmitted either in dominant (DDEB) or recessive (RDEB) mode. Nevertheless, all variants of DEB are caused by mutations in type VII collagen gene (COL7A1). We report an analysis of COL7A1 mutations in 51 Italian DEB patients, 27 affected with Hallopeau-Siemens RDEB, 19 with non Hallopeau-Siemens RDEB, two with DDEB, two with pretibial RDEB, and one with inversa RDEB.

[Tumor of the juxtaglomerular apparatus].

Renin-secreting tumours are rare tumours. The authors report a case of renin-secreting tumour discovered during investigation of HT associated with hypokalaemia and secondary hyperaldosteronism and recall the main clinical, laboratory, and radiological characteristics of this tumour, as well as its treatment.

[Management of severe renal trauma].

Objective: To analyse the progress in the management of severe renal trauma (Chatelain stage 3 and 4) over a period of 11 years.

Patients And Methods: From December 1989 to June 2001, 21 patients were treated for severe renal trauma. Up until 1995, all patients were operated urgently or on the 7th day (n = 12).

The Arg allele in position 192 of PON1 is associated with carotid atherosclerosis in subjects with elevated HDLs.

Human serum paraoxonase (PON1) is an HDL-associated enzyme involved in the protection of lipoproteins from oxidation. A polymorphism at position 192 (Gln/Arg) influences its activity in a substrate-dependent manner. The aim of the present study was to evaluate, in vivo, the contribution of the PON1-192 polymorphism to the protective effect of HDLs.

Variants of renal angiomyolipoma closely simulating renal cell carcinoma: difficulties in the histological diagnosis.

Renal angiomyolipoma is considered to be a benign renal tumor composed of atypical blood vessels, smooth muscles and fat cells. We report 2 cases of unilateral renal angiomyolipoma. In both cases, our preoperative diagnosis was renal cell carcinoma, because no low density area compatible with fat tissue was noted in the tumors on radiographic evaluation.

Role of GST P1-1 in mediating the effect of etoposide on human neuroblastoma cell line Sh-Sy5y.

The oxidative stress could have a dual action on glutathione S-transferase (GST) P1-1 metabolism: transcriptional induction and/or polymerization. The former should represent a form of adaptation to oxidative stress and contribute to protect the cell, the latter one should activate apoptosis via c-Jun N-terminal kinase (JNK). We studied the effect of etoposide on human neuroblastoma cell line SH-SY5Y and on an etoposide-resistant clone to investigate whether a pleiotropic effect of etoposide on the redox status of the cell exists which is able to interfere with apoptosis through the GST P1-1 system.

Oxidative damage and cytogenetic analysis in leukocytes of Parkinson's disease patients.

Background: Postmortem studies suggest excessive free radical toxicity in the substantia nigra of patients with PD. Increased lipid peroxidation and oxidative DNA damage have been reported in the CNS. Markers of oxidative stress have been identified in the blood of patients with PD.

Trout GH promoter analysis reveals a modular pattern of regulation consistent with the diversification of GH gene control and function in vertebrates.

In vertebrates, growth hormone (GH) gene expression requires the pituitary-specific transcription factor Pit-1/GHF1 but is differently regulated by a variety of factors in different vertebrate species. Here, we have studied the transcriptional activity of the trout GH (tGH) promoter, which is synergistically stimulated by cAMP and glucocorticoid. Gel shift assays indicated that Pit-1 binds as a dimer to three high affinity sites in the -226/+24 tGH region, and that recombinant cAMP response element (CRE)-binding protein (CREB) binds to a CRE situated between the two distal Pit-1 sites.

Influence of GSTM1 and GSTT1 genotypes on sister chromatid exchange induction by styrene in cultured human lymphocytes.

Glutathione S-transferases M1 (GSTM1) and T1 (GSTT1) are polymorphically expressed in humans; about 47% and 13% of Finns lack the GSTM1 and GSTT1 activity due to homozygous deletion of the respective genes (null genotypes). We previously observed that GSTT1 null genotype was associated with increased induction of sister chromatid exchanges (SCEs) by a metabolite of styrene, styrene-7,8-oxide, in human lymphocyte cultures, while GSTM1 genotype had no effect. In the present study, we examined the potential effect of these genotypes on SCE induction by the parent compound styrene.

Treatment of patients with tardive dystonia with olanzapine.

Tardive dystonia represents a complication of long-term use of neuroleptics and its treatment is often unsatisfactory. Atypical neuroleptics appear to improve tardive dystonia, and cases of tardive dystonia successfully managed with clozapine have been reported. The aim of this open-label video-blinded study was to evaluate the antidystonic efficacy of olanzapine, a new atypical neuroleptic with a low risk of agranulocytosis, in a group of four patients (one man and three women) with tardive cervical dystonia.

Antioxidant enzymes in blood of patients with Friedreich's ataxia.

Background And Aims: Increased generation of reactive oxygen species and mitochondrial dysfunction may underlie the pathophysiology of Friedreich's ataxia, the most common inherited ataxia, due to GAA expansion in a gene coding for a mitochondrial protein (frataxin), implicated in the regulation of iron metabolism. Because iron overload would cause oxidative stress in Friedreich's ataxia, we investigated the enzyme antioxidant system in the blood of 14 patients by determining superoxide dismutase, glutathione peroxidase, and glutathione transferase catalytic activities. We also studied the glutathione S-transferase genotype polymorphism in order to evaluate its possible influence on enzyme activity.

Apolipoprotein E genotyping: a comparative study between restriction endonuclease mapping and allelic discrimination with the LightCycler.

Background: The apolipoprotein E (apo E) polymorphism is associated with the risk of developing cardiovascular disease and the risk and the time of onset of Alzheimer's disease. Therefore, the interest in apo E genotyping is high, both for epidemiological research and for the purpose of diagnosing dyslipidemia or dementia. The aim of our study was to compare and evaluate two different methods for apo E genotyping, both on the basis of polymerase chain reaction (PCR).

Effects of interpersonal control, perspective taking, and attributions on older mothers' and adult daughters' satisfaction with their helping relationships.

Older mother-adult daughter dyads (N = 44) were interviewed separately about 3 variables hypothesized to affect satisfaction with the help provided to mothers by their daughters: feelings of interpersonal control, perspective-taking abilities, and attributions made about the self and other dyad member during positive and negative helping interactions. The most important predictors of partner satisfaction were mothers' and daughters' ability to accurately perceive the partner's feelings about the helping relationship and their feelings of interpersonal control. The most salient predictors of mothers' and daughters' own satisfaction were the attributions they made about the partner during a negative helping situation and their feelings of interpersonal control.

Influence of cigarette smoking on P53 gene mutations in bladder carcinomas.

Background: The aim of this study was to analyse the influence of cigarette smoking on bladder carcinomas.

Patients And Methods: 98 cases of bladder cancers were examined by single strand conformation polymorphism analysis of exons 5 to 9, followed by DNA direct sequencing.

Results: The incidence of p53 gene mutations was not significantly influenced by habitual smoking.

Collagen VII expression in glomerular sclerosis.

Glomerular sclerosis is the final stage of a variety of kidney diseases and matrix molecules not normally expressed in the extracellular matrix are synthesized and accumulate during the sclerotic process. Collagen type VII is the major component of the anchoring fibrils at the dermal-epidermal junction, but it is usually not present in normal glomeruli. The aim of this study was to investigate whether this type of fibrillary collagen, different from types I and III, is expressed in chronically diseased glomerular extracellular matrix.

Glutathione transferase P1 polymorphism in neuroblastoma studied by endonuclease restriction mapping.

Several members of the different glutathione transferase (GST) gene classes are polymorphic. Particular interest has been focused on the GSTP class because this gene class is up-regulated during the early stage of oncogenesis and is significantly overexpressed in many human tumors. It has also been shown that high levels of GSTP1 expression are associated directly with tumor drug resistance and with poor patient survival.

Serum levels of vascular endothelial growth factor as a prognostic factor in bladder cancer.

Purpose: Vascular endothelial growth factor is an overriding growth factor mediating tumor angiogenesis. We correlated serum vascular endothelial growth factor in patients with bladder cancer with clinical parameters.

Materials And Methods: Serum vascular endothelial growth factor in 58 patients with bladder cancer, including superficial and invasive tumors in 42 and 16, respectively, and 41 healthy controls was measured by sandwich enzyme immunoassay.

[Testicular trauma: report of 56 cases].

Objectives: To assess the diagnostic value of clinical examination and ultrasound in testicular trauma and to analyse the complications of the various treatments proposed (surgical and medical treatments), in order to more clearly define the place of medical treatment in this form of trauma in young adults.

Patients And Methods: 56 cases of testicular trauma in 50 patients were managed between January 1990 and January 2000. In the absence of clinical and ultrasonographic criteria of severity (haematocele, very large intratesticular haematoma, rupture of the tunica albuginea), medical treatment consisting of rest, anti-inflammatory drugs, and testicular support was instituted.

[Angiogenesis in bladder: prognosis indicator and therapeutic target].

Angiogenesis is a complex, multi-step process which leads to the formation of new blood capillaries (neovessels) from preexisting vessels. It is essential top the growth of solid tumours and tumour metastasis (tumour angiogenesis). This process is initiated by the synthesis, by tumour cells and non-malignant tumour-associated cells, of growth factors called antigenic factors or inducers.

A multiplex PCR-based DNA assay for the detection of paraoxonase gene cluster polymorphisms.

Paraoxonase (PON) is a high-density lipoprotein (HDL) associated protein which is supposed to protect low-density lipoprotein (LDL) against oxidation and to play a role in the development of atherosclerosis. Interindividual variability in serum PON activity is attributable to common variants in components of the PON gene cluster on chromosome 7. We describe experimental conditions that permit the simultaneous determination of three common PON polymorphisms (PON1-192, PON1-55 and PON2-311) that are tightly associated with an increased risk of atherosclerosis.