Generation and Characterization of a Transgenic Mouse Carrying a Functional Human β -Globin Gene with the IVSI-6 Thalassemia Mutation.

Mouse models that carry mutations causing thalassemia represent a suitable tool to test in vivo new mutation-specific therapeutic approaches. Transgenic mice carrying the β-globin IVSI-6 mutation (the most frequent in Middle-Eastern regions and recurrent in Italy and Greece) are, at present, not available. We report the production and characterization of a transgenic mouse line (TG-β-IVSI-6) carrying the IVSI-6 thalassemia point mutation within the human β-globin gene.

Age-specific seroprevalences of merkel cell polyomavirus, human polyomaviruses 6, 7, and 9, and trichodysplasia spinulosa-associated polyomavirus.

Six new human polyomaviruses have been identified since 2008 (Merkel cell polyomavirus [MCPyV], human polyomavirus 6 [HPyV6], HPyV7, HPyV9, trichodysplasia spinulosa polyomavirus [TSPyV], and Malawi polyomavirus [MWPyV]). The presence of specific antibodies against MCPyV, HPyV6, HPyV7, HPyV9, and TSPyV in 828 Italian subjects aged 1 to 100 years was investigated by virus-like particle-based enzyme-linked immunosorbent assays (ELISAs). The findings indicate that all of these new polyomaviruses circulate widely in humans, with seroprevalences in adulthood ranging from 39.

Specific antibodies reacting with simian virus 40 capsid protein mimotopes in serum samples from healthy blood donors.

Simian virus 40 (SV40), a small DNA tumor virus, was inadvertently administered to human populations with the use of contaminated vaccines. SV40 sequences have mainly been detected in healthy individuals and cancer patients using polymerase chain reaction techniques. However, some studies have failed to reveal the presence of SV40 in human specimens.

Multidimensional evaluation of performance with experimental application of balanced scorecard: a two year experience.

Background: In today's dynamic health-care system, organizations such as hospitals are required to improve their performance for multiple stakeholders and deliver an integrated care that means to work effectively, be innovative and organize efficiently. Achieved goals and levels of quality can be successfully measured by a multidimensional approach like Balanced Scorecard (BSC). The aim of the study was to verify the opportunity to introduce BSC framework to measure performance in St.

Therapeutic concentrations of mitotane (o,p'-DDD) inhibit thyrotroph cell viability and TSH expression and secretion in a mouse cell line model.

Mitotane therapy is associated with many side effects, including thyroid function perturbations mimicking central hypothyroidism, possibly due to laboratory test interference or pituitary direct effects of mitotane. We investigated whether increasing concentrations of mitotane in the therapeutic range might interfere with thyroid hormone assays and evaluated the effects of mitotane on a mouse TSH-producing pituitary cell line. TSH, free T(4), and free T(3) levels do not significantly change in sera from hypo-, hyper-, or euthyroid patients after addition of mitotane at concentrations in the therapeutic window.

Multidimensional evaluation of performance: experimental application of the balanced scorecard in Ferrara university hospital.

Background And Aims: One of the best-known performance planning and evaluation techniques utilising both monetary and non-monetary data is the Balanced Scorecard (BSC). This is a means of rationalising the global activity of a business in the attempt to create value, and to translate the company vision into a set of tactical objectives and measurable strategies. The aim of this study was to implement and evaluate the use of BSC in two departments of the St.

A rare cause of heart failure in iron-overload thalassaemic patients-primary hypoparathyroidism.

Hypocalcemia due to hypoparathyroidism (HPT) is a late complication of iron-overloaded patients with b-thalassaemia major (TM). The majority of patients have mild disease with parasthesias, while in the more severe form tetany, seizures or cardiac failure may occur. In the last 20 years we observed heart failure in 2 out of 38 (5.

Spermatogenesis in young adult patients with beta-thalassaemia major long-term treated with desferrioxamine.

Since the introduction of hypertransfusion and intensive iron chelation therapy, patients with homozygous beta-thalassaemia major (TM) achieve adulthood. Many patients grow and develop normal hoping for marriage and to have a family. Therefore the question of fertility potential in this adult group of TM patients has become paramount.

Surface plasmon resonance and biosensor technology for real-time molecular diagnosis of beta o 39 thalassemia mutation.

Background: Biospecific interaction analysis (BIA) employing surface plasmon resonance (SPR) and biosensor technologies is of interest in clinical genetics. However, few data are available on its use in hereditary diseases caused by genetic mutations.

Aim: The primary aim of this study was the refinement of BIA technology for use in identifying the beta o 39 mutation of the beta-globin gene, a mutation which causes a common type of beta o thalassemia.

EQA pilot regional program for haematology in Emilia-Romagna, Italy.

A pilot regional EQA scheme in haematology has been implemented in Emilia-Romagna. The distinctive features of this scheme are: a) inter-laboratory comparability of results on a local basis has been selected as main target of the whole scheme; b) fresh blood has been chosen as ideal control material; c) a fast and effective dispatching system of control material has been accomplished. This has been made possible by means of the hospital ambulances network and an express delivery service; d) the assessment of the analyzers calibration alignment in the whole region has been subdivided in two phases.

Biochemical and molecular characterization of a new sporadic glucose-6-phosphate dehydrogenase variant described in Italy: G6PD Modena.

A new glucose-6-phosphate dehydrogenase variant detected in an Italian man from the Po delta is described and designated as G6PD Modena. Biochemical characterization of the variant enzyme revealed an activity 21% of normal, a slow electrophoretic mobility, increased Km value for NADP, decreased Km value for G6P and a complete absence of NADPH inhibition, which could account for the apparently nonhaemolytic feature of this variant. The cloning and sequencing of the G6PD Modena allele showed a G-->C transition at nucleotide 844 in exon VIII causing a Asp-->His amino acid substitution.

G6PD Ferrara I has the same two mutations as G6PD A(-) but a distinct biochemical phenotype.

The cloning and sequencing of the normal glucose-6-phosphate dehydrogenase (G6PD) gene has led to the study of the molecular defects that determine enzymatic variants. In this paper, we describe the mutations responsible for the Ferrara I variant in an Italian man with a family history of favism, from the Po delta. Nucleotide sequencing of this variant showed a G-->A mutation at nucleotide 202 in exon IV causing a Val-->Met amino acid exchange, and a second A-->G mutation at nucleotide 376 in exon V causing an Asn-->Asp amino acid substitution.

Red-cell GSH regeneration and glutathione reductase activity in G6PD variants in the Ferrara area.

Red-cell studies were carried out on three groups of G6PD-deficient subjects with different G6PD variants from the Ferrara area of Northern Italy. Red-cell GSH and activities of G6PD, glutathione reductase (GR), glutathione peroxidase (GPx) and superoxide dismutase (SOD) were measured. A method was developed to measure red-cell GSH regeneration after oxidation of endogenous GSH in whole blood by diamide and only this clearly distinguished the variants from each other and from normal.

Simonsiella filaments isolated from erosive lesions of the human oral cavity.

The morphology and cultural characteristics of bacteria of the Simonsiella genus isolated from erosions of oral mucosa are reported here. Direct microscopic examination of smeared oral swabs and the consequent selection of suitable culturing procedures and media are compulsory for recovering Simonsiella microorganisms from clinical specimens in routine work.

Maternal lymphocytotoxic antibodies and bilirubin levels in the postpartum offspring.

HLA antigens are present on immature red cells (Harris & Zervas 1969), but disappear from their surface when they become mature and enter into the circulation (Silvestre et al. 1970). Nevertheless some remnants of HLA substance may survive this antigenic switch and possibly persist on adult red cells (Morton et al.

Glucose-6-phosphate dehydrogenase Ferrara. A new variant of g-6-PD identified in Northern Italy.

A new variant of glucose-6-phosphate dehydrogenase (G-6-PD) has been discovered in Northern Italy, in the district of Ferrara. This variant is characterized by high decrease of red blood cell enzyme activity (less than 5% of normal), high affinity for G-6-P and NADP, increased utilization of deamino-NADP and 2-deoxy-G-6-P, and faster electrophoretic mobility in the buffer systems commonly used for the classification of the G-6-PD variants. The new G-6-PD type was never associated with clinical manifestations in any cases except neonatal jaundice in some of the newborns with this enzyme deficiency.