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Biomedical subjects

L Cosentino

Publications and source records attributed to L Cosentino.

28 records · Page 2Linked to original sources

The induction of dominant somatic mutations at the Dlb-1 locus.

In the small intestine of heterozygous mice (Dlb-1b/Dlb-1a), the Dlb-1b allele results in a stainable epithelium. The mutation or loss of the dominant Dlb-1b allele in a stem cell results in a non-staining ribbon of cells on a villus of the small intestine. To determine if dominant mutations resulting in the gain of staining--the induction of a Dlb-1b-like allele--could also be detected, we examined Dlb-1a homozygous mice (SWR) 2 weeks after a single treatment with 250 mg/kg ethylnitrosourea. Mutations to the dominant allele should appear as brown ribbons on unstained villi. Such ribbons were observed in the treated group but not in controls. The mutant frequency was low compared to the frequency of Dlb-1a-like mutations reported at the Dlb-1b allele in heterozygous mice.

Animals↗

HIV-1 isolates from children with or without AIDS have similar in vitro biologic properties.

OBJECTIVE: To compare biologic properties of HIV-1 isolates from children with and without AIDS as a measure of viral cytopathogenicity. PATIENTS AND PARTICIPANTS: Virus isolates from peripheral blood mononuclear cells of 13 perinatally infected children were compared for specific in vitro biologic properties. METHODS: Virus isolates were examined for biologic properties as measured by their ability to infect H9 cells and to induce syncytia in susceptible cells. RESULTS: Most of the pediatric HIV-1 isolates failed to infect CD4+ H9 cells and induce syncytia in susceptible cells, regardless of whether they were from children with or without AIDS. All of the isolates, however, grew well in mitogen-stimulated normal adult lymphocytes. These results are in contrast to those with HIV-1 isolates from adults, whose biologic properties were related to the stages of the disease. CONCLUSIONS: These results indicate that, unlike adult HIV-1 isolates, the biologic properties of pediatric isolates are not related to the stages of the disease. The rapid development of disease in children may therefore be due to factors other than intrinsic properties of HIV-1 strains present in children.

Acquired Immunodeficiency Syndrome↗

Familial Alzheimer's disease. Evidences for clinical and genetic heterogeneity.

We report the genealogical, clinical and molecular genetic findings of a new family with autosomal dominant early-onset Alzheimer's disease (FAD) discovered in Torino (Italy). Up to now, the pedigree comprises 1500 members, distributed in 8 generations. 22 patients affected with Alzheimer's disease have been identified. The clinical course of the disease was fairly uniform in all the patients. An high incidence of myoclonic jerks and epileptic seizures was found. Molecular genetic studies showed the presence of positive but nonsignificant lod scores between chromosome 21 anonymous DNA markers and the disease. The data obtained from the Torino family were computed together with those of additional 47 pedigrees, with both early-onset and late-onset Alzheimer's disease. A predisposing locus for the disease was found on the pericentromeric region of chromosome 21 only in early-onset FAD pedigrees.

Adult↗

Intraoperative diagnosis of nervous system lesions.

OBJECTIVE: To determine the accuracy of comparative cytologic and frozen section intraoperative diagnosis in neuropathology and the relevance of diagnostic accuracy during both craniotomic and stereotactic biopsies and to provide further data on rare and/or diagnostically controversial lesions. STUDY DESIGN: Both cytologic and frozen section preparations were employed in the intraoperative diagnosis of 85 consecutive central and peripheral nervous system lesions obtained from classical surgery (70 samples, 4 of which were intramedullary) and stereotactic biopsies (15 samples). RESULTS: Combining cytologic and frozen section details allowed a fair diagnosis in 81 cases (95.29%), confirmed on paraffin sections. In the remaining cases intraoperative misdiagnosis was due to technical-staining defects (1 case); absence of tumor differentiation, resolved only by ultrastructural examination (2 cases); and marked tumor heterogeneity, resolved by wide tissue sampling and immunohistochemistry (1 case). CONCLUSION: Besides providing a general description of cytologic and frozen section criteria useful in intraoperative diagnostic neuropathology and adding further details about some problematic and/or rare entities, our work confirmed: (1) the usefulness of comparative cytologic and frozen section examination in the intraoperative diagnosis of central nervous system lesions, (2) the relevance of the accuracy of intraoperative diagnosis during both craniotomy and stereotaxis, including intramedullary samples; and (3) the importance of fair "conduct" in intraoperative neuropathology, always comparatively considering morphologic and clinicoradiologic data.

Central Nervous System↗

Value of cytology as an adjunctive intraoperative diagnostic method. An audit of 2,250 consecutive cases.

OBJECTIVE: To evaluate the role of intraoperative cytology (IC) in the improvement of diagnostic accuracy obtained by frozen section (FS) alone. STUDY DESIGN: Comparison of 2,250 intraoperative cytologies performed along with frozen sections, with the final diagnoses achieved on paraffin sections. RESULTS: In 18 cases the diagnoses were deferred until the paraffin sections at the time of intraoperative consultation. The diagnostic accuracy in distinguishing benign from malignant lesions by combined intraoperative cytology and frozen section was 99.2%. The accuracy rate is significantly higher than that reported in large series based on frozen section preparations alone. Sensitivity and specificity were, respectively, 98.2% and 100%. The diagnostic accuracy of each technique alone was 94.9% for FS (sensitivity 89.9%, specificity 97.9%) and 96% for IC (sensitivity 94.9%, and specificity 96.8%). Although specific diagnoses were more frequently formulated on the bases of frozen section examination, FSs were not diagnostic in 113 case in which cytology allowed a specific diagnosis. CONCLUSION: Our results emphasize the increasingly important diagnostic role of intraoperative cytology as an adjunct to frozen section. The approach does have limitations.

Breast Neoplasms↗

Evaluation of the expression of tissue DF-3 and MCA and the corresponding serum values in patients with breast carcinoma.

Two specific monoclonal antibodies for breast tissue (DF3 and MCAb-12) and the corresponding tumor markers CA15-3 and MCA in serum have been evaluated in 50 patients with breast cancer and in 15 controls. The expression of these antigens in tissue was poorly correlated with the common prognostic parameters. Their presence in serum was associated with an altered distribution of the antigens in the cell. The expression of these antigens in tissue enables us to select patients for serological follow-up and to evaluate tumor differentiation from a functional point of view.

Antibodies, Monoclonal↗

Survey of Lyme disease in Abruzzo (Italy).

This study reports the diagnostic activity for the serological diagnosis of Lyme Disease (LD) in the patients of Abruzzo, a central region of Italy. During the period from August 1994 to July 1999, serological examinations for anti-Borrelia burgdorferi antibodies were performed on 1089 samples from 769 patients with symptomatology consistent with LD. Using an immunoenzymatic technique which was confirmed with Western Blot, 29 patients were diagnosed positive. Twenty-five of these patients contracted the disease in Abruzzo, two during a trip to the USA, one was from Molise and one from Marche. Overall the patients were young, 64% were women and residents of costal areas who frequently engaged in naturalistic activities. The most common symptoms were articular and one patient presented Bannwarth Syndrome. The various antibiotic therapies used gave good results in most cases. These are the first cases reported in literature for this region and for Molise. We believe that LD is underestimated, especially due to the favorable climatic and environmental conditions present in this region. Therefore, we suggest an intensification of clinical and epidemiological controls.

Journal Article↗

[Otitis media in childhood: a critical review of the literature].

Infection of the middle ear is one of the most common childhood illnesses accounting for one-third of the pediatrics practice during the first five years of life. Therefore treatment and prevention of the otitis media are of considerable importance. A review of the literature of the otitis media during the pediatric age is reported. In fact in the last years a large amount of knowledge, sometimes referring discordant opinions, has been acquired. The Authors report epidemiology, anatomy, pathology, physiology, microbiology, classification, clinical data diagnosis and therapy of the otitis media. Common conditions of the middle ear (normal, acute otitis media, chronic otitis media, recurrent otitis media) are described. In particular acute otitis media, otitis media with effusion, perforation of the tympanic membrane, fluid level in the middle ear, severe retraction or bulging of the tympanic membrane are pointed out in color-photographs.

Acute Disease↗