Automated classification of focal breast lesions according to S-detect: validation and role as a clinical and teaching tool.

Purpose: To assess the diagnostic performance and the potential as a teaching tool of S-detect in the assessment of focal breast lesions.

Methods: 61 patients (age 21-84 years) with benign breast lesions in follow-up or candidate to pathological sampling or with suspicious lesions candidate to biopsy were enrolled. The study was based on a prospective and on a retrospective phase.

Analysis of random PCR-originated mutants of the yeast Ste2 and Ste3 receptors.

The G protein-coupled receptors Ste2 and Ste3 bind α- and a-factor, respectively, in Saccharomyces cerevisiae. These receptors share a similar conformation, with seven transmembrane segments, three intracellular loops, a C-terminus tail, and three extracellular loops. However, the amino acid sequences of these two receptors bear no resemblance to each other.

Yeast pheromone receptor genes STE2 and STE3 are differently regulated at the transcription and polyadenylation level.

The orderly expression of specific genes is the basis for cell differentiation. Saccharomyces cerevisiae has two haploid mating types, a and α cells, in which the mating-specific genes are differentially expressed. When a and α cells are committed to mate, their growth is arrested.

Cis- and trans-splicing of mRNAs mediated by tRNA sequences in eukaryotic cells.

The formation of chimeric mRNAs is a strategy used by human cells to increase the complexity of their proteome, as revealed by the ENCODE project. Here, we use Saccharomyces cerevisiae to show a way by which trans-spliced mRNAs can be generated. We demonstrate that a pretRNA inserted into a premRNA context directs the splicing reaction precisely to the sites of the tRNA intron.

A pre-tRNA carrying intron features typical of Archaea is spliced in yeast.

Archaeal pre-tRNAs are characterized by the presence of the bulge-helix-bulge (BHB) structure in the intron stem-and-loop region. A chimeric pre-tRNA was constructed bearing an intron of the archaeal type and the mature domain of the Saccharomyces cerevisiae suppressor SUP4 tRNA(Tyr). This pre-tRNA(ArchEuka) is correctly cleaved in several cell-free extracts and by purified splicing endonucleases.

Cardiac structural involvement in mucopolysaccharidoses.

Mucopolysaccharidoses (MPS) are lysosomal storage disorders due to impaired glycosaminoglycan degradation. Cardiac involvement is present in most patients with MPS although its clinical impact is still undetermined. Cardiovascular abnormalities were evaluated in 39 patients with MPS aged 4-22 years.

Persistent spontaneous pneumothorax in an adolescent with Marfan's syndrome and pulmonary bullous dysplasia.

A 16-year-old boy with Marfan's syndrome was admitted with progressive dyspnea due to a large spontaneous pneumothorax. Bullous pulmonary dysplasia was confirmed and pleural tube drainage did not affect the air leak. Complete recovery required surgical resection of the bulla responsible for the ongoing air leak.

In vitro and in vivo antitumor activity of the novel trinuclear platinum complex BBR 3464 in neuroblastoma.

Purpose: BBR 3464 is a promising new trinuclear platinum complex that has been shown to circumvent the resistance to cisplatin in a panel of tumor cell lines and xenografts with acquired or intrinsic resistance to cisplatin. The in vitro and in vivo antitumor activity of BBR 3464 was evaluated and compared with that of cisplatin in neuroblastoma.

Methods: In in vitro studies, the short- and long-term cytotoxicities, cell cycle perturbations, the ability to induce apoptosis, the intracellular platinum accumulation and DNA platination were evaluated in three neuroblastoma cell lines exposed to appropriate drug concentrations for 1 h.

Cognitive impairment in school-age children with asymptomatic HIV infection.

Previous studies have shown that there is a positive correlation between clinical expression of HIV-1 disease and deficits in the cognitive and neuropsychologic abilities in afflicted children. To date there are few studies regarding analysis of the cognitive and neuropsychologic development of HIV-positive, asymptomatic nonprogressor children (6-12 years of age) (long-survivors). The purpose of this study was to explore the differences in neuropsychologic development of asymptomatic HIV-positive school-age children compared with a seroreverted group.

Anterior sacral meningocele in a patient with Marfan syndrome.

Anterior sacral meningocele has been reported to be associated with Marfan syndrome (MFS) in few cases, differently from dural ectasia appearing up to two thirds of affected patients. A new instance of this association is described in an 18-year-old man with Marfan syndrome, diagnosed upon MRI morphological evaluation which showed a huge cystic mass in the pelvic space. Surgical excision even if curative was not performed in consideration of a stationary picture after one year since diagnosis.

The novel trinuclear platinum complex BBR3464 induces a cellular response different from cisplatin.

BBR3464 is a new platinum-based drug non cross-resistant with cisplatin. To characterise the cellular basis of BBR3464 cytotoxicity as opposed to cisplatin, we performed a comparative study of the two drugs in cisplatin-resistant neuroblastoma and astrocytoma cells. In both model systems, BBR3464 proved to be more potent than cisplatin and was able to overcome cisplatin resistance.

Bladder obstruction in Hunter's syndrome.

We report a case of bladder obstruction in a patient with Hunter's syndrome, presenting with acute painful symptomatology, due to the impossibility of voiding, which was diagnosed with ultrasonography and cystometrography. Intermittent catheterization with intravesical oxybutynin chloride lead to successful functional resolution of the obstruction.

Early reactive neutrophil changes in an infant with Kawasaki syndrome.

An infant with Kawasaki syndrome presenting with fever, rash, and a high percentage of neutrophils with toxic granulation is reported. The peripheral blood smears of the patient showed a high proportion of neutrophils with marked vacuoles and toxic granulations. The reactive changes in neutrophils could be helpful in the early detection of the disease, especially in infants younger than 6 months of age who are at high risk for development of coronary artery disease.

Cervical myelopathy in mucopolysaccharidosis type IV.

We describe our experience with 8 Italian patients having mucopolysaccharidosis type IV, diagnosed between 1 and 10 years of life, who presented odontoid hypoplasia causing cervical myelopathy. We discuss the possibility of cranio-cervical stabilization in order to reduce the neurological complications.

Italian multicentre open trial on DDAVP spray in nocturnal enuresis.

Objective: The aim of the study was to compare the efficacy and safety of different doses of DDAVP spray treatment (20 to 40 mcg/day) in patients with primary monosymptomatic nocturnal enuresis (defined as three or more wet nights per week).

Material And Methods: 237 patients (152 males, 75 females; age range 5-17 years), with no infections or organic abnormalities of the urinary apparatus and no neurological disorders, were admitted into the trial. The experimental design was planned as an "open study" with five different treatments schedules (5 groups).

Occurrence of anti-thyroid autoantibodies in children vertically infected with HIV-1.

Autoimmune phenomena, especially occurrence of non organ-specific autoantibodies, are common in congenitally acquired HIV infection, mostly in the symptomatic stages of the disease. Anti-thyroid autoantibodies detected in adult patients represent the only type of organ-specific autoantibodies reported in HIV infection. As far as we know, occurrence of these autoantibodies has not been observed in HIV infected children.

Efficient signal transduction by a chimeric yeast-mammalian G protein alpha subunit Gpa1-Gsalpha covalently fused to the yeast receptor Ste2.

Saccharomyces cerevisiae uses G protein-coupled receptors for signal transduction. We show that a fusion protein between the alpha-factor receptor (Ste2) and the Galpha subunit (Gpa1) transduces the signal efficiently in yeast cells devoid of the endogeneous STE2 and GPA1 genes. To evaluate the function of different domains of Galpha, a chimera between the N-terminal region of yeast Gpa1 and the C-terminal region of rat Gsalpha has been constructed.

[Haemophilus influenzae disease in childhood. Comment about case reports of meningitis].

The authors describe a series of Haemophilus influenzae meningitis in childhood, obtained with a retrospective analysis of the cases of bacterial meningitis admitted to Isolamento Pediatrico department of "A. Gemelli" Polyclinic in Rome, from January 1, 1970 to December 31, 1994. Haemophilus influenzae resulted the second agent in frequency (first was Neisseria meningitidis).

Spondylo-epimetaphyseal dysplasia with joint laxity and severe kyphoscoliosis in an Italian girl.

A case of spondylo-epimetaphyseal dysplasia with joint laxity (SEMDJL) in an Italian girl is reported. This condition is mainly observed in the Afrikaans population of South Africa with an ancestral founder believed to be localized in West Germany. This case might support a link with the European origin of SEMDJL.

Drug addiction in pregnancy: 13 years of experience.

In this retrospective study, we review our data on 203 drug-addicted pregnant patients, considering two different aspects of the question: maternal and fetal. We report the findings relative to maternal metabolic, endocrinological, neuroendocrinological and immunological studies performed in our department over the past 13 years. Moreover, we study fetal involvement in drug-addicted pregnancy and report the findings of our fetal behavior and urodynamic studies.

[Neonatal abstinence syndrome and maternal toxicological profile].

Neonatal abstinence syndrome (NAS) is one of the most frequent manifestations in the neonates of drug-addicted mothers. It is caused by the abrupt interruption of the transplacentar passage of drugs from the mother to the fetus. The aim of this study was to evaluate the correlation between drugs taken during pregnancy and NAS.