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Biomedical subjects

A Carnevale

Publications and source records attributed to A Carnevale.

126 records · Page 7Linked to original sources
PubMedDate not supplied

[Turner's syndrome and heart surgery. Presentation of 3 clinical cases].

Three patients with Turner's Syndrome are shown; one associated with coarctation of the aorta, other with patent ductus arteriosus and the last one with congenital valvular aortic stenosis. The cytogenetic and clinical picture of the disease are reviewed, also its association with some cardiovascular malformations. The results of the surgical treatment of the congenital heart disease are reported. The difficulties to establish the operatory indication are described and besides the technical problems that occur frequently in these patients.

Adolescent↗
PubMedDate not supplied

[Comparison of instructions to authors of Mexican medical journals and the Vancouver requirements].

OBJECTIVE: To find out how much information of the Vancouver norms (VANNOR) are given to prospective authors in the instructions for authors (IFA) in some Mexican medical journals (MMJ). DESIGN: Prospective, cross sectional, descriptive, observational. MEASUREMENTS: To score the IFA in the MMJ published between 1989 and 1991. The scoring was done on the basis of presence in the IFA of the VANNOR characteristics grouped in categories (characteristics and presentation of the manuscript, title page, summary and keywords, text order and contents, references, tables, illustrations, and other instructions). A total score of 60 characteristics (grouped in nine categories) was obtained for each journal. Statistical differences as a function of VANNOR affiliation were investigated by means of Student's t test, chi-square, and exact Fisher tests using a 0.05 alpha level (two-tailed). RESULTS: 50 MMJ were included (21 affiliated to VANNOR). No statistical difference was found for VANNOR affiliation and registration in bibliographic data bases. But statistically significant higher scores were found in the affiliated journals in 12 of 60 characteristics (three of nine categories) and in the total score. CONCLUSIONS: Independently of VANNOR affiliation, there were deficiencies in the IFA of all journals, particularly in instructions regarding the manuscript's contents. Possibly, some inadequacies in manuscripts might be prevented with IFA that comply more thoroughly with the VANNOR requirements.

Mexico↗
PubMedDate not supplied

[Identification of sex chromosome markers using fluorescence in situ hybridization (FISH)].

From 6 to 15% of the patients with Turner syndrome have a mosaic karyotype, i.e. a 45,X cell line and another with a small sex chromosome marker of undetermined origin which may be a ring or a centric fragment. It is important to establish whether this marker chromosome derives from a Y chromosome as this implies that the patient has a high risk of developing gonadoblastoma. The objective of the present paper was to identify the origin of small sex chromosome markers using fluorescence in situ hybridization (FISH). Eight patients were studied; seven had a Turner phenotype and one had a short stature with ambiguous genitalia. In all cases karyotype in peripheral lymphocytes showed mosaicism, with one cell line that had a sex chromosome marker, and in three cases, the mosaicism was corroborated in fibroblast cultures. Biotin labeled DNA probes with complementary centromeric alpha-satellite sequences of chromosomes X and Y were used in the FISH technique. In seven patients the chromosome marker came from the X chromosome as established with the X chromosome alpha-satellite probe. In the patient with ambiguous genitalia, the marker did derive from the Y chromosome. We conclude that the FISH technique proved to be useful to establish the origin of sex chromosome markers in our laboratory.

Adolescent↗
PubMedDate not supplied

Gliomatosis cerebri: report of an atypical case.

Gliomatosis cerebri (GC) is a rare, diffusely infiltrating tumor of neuroepithelial origin. The clinical diagnosis is difficult since GC is a diffuse and progressive disease of the central nervous system (CNS). Non-specific findings can be detected by computed tomography (CT) whereas, according to some authors, the extent of this tumor can be accurately depicted by magnetic resonance imaging (MRI). In this paper the neuroradiologic, neuropathologic and immunohistochemical features in a further case of GC are reported.

Adult↗
PubMedDate not supplied

Multiple sclerosis associated with peripheral demyelinating neuropathy.

We report clinical, electrophysiological, magnetic resonance imaging, and nerve biopsy findings of 2 patients with definite multiple sclerosis and peripheral demyelinating disease. Although it is not easy to assess the real incidence of peripheral neuropathy in patients with multiple sclerosis, this association seems to be rare. The combination of central and peripheral demyelination may be a fortuitous coincidence, but it appears improbable. Alternatively, these patients may represent a specific subpopulation and common immunopathogenetic mechanisms (such as immunological factors, endothelial alterations, and abnormal expression of adhesion molecules) may underly both central and peripheral myelin involvement. The study of these cases might clarify specific mechanisms of pathogenetic significance in demyelinating diseases.

Adult↗
PubMedDate not supplied

[Fluorescence in situ hybridization in 6 patients with alterations of chromosome 18 and in 7 with marker chromosomes].

The purpose of the present study was to use the FISH method to establish the origin of chromosome aberrations currently unidentifiable by routine banding procedures. It was done in 13 cases with structurally rearranged chromosomes, seven of them with non-satellited marker chromosomes; in two of the latter an isochromosome 18p was identified which was consistent with a clinical picture of a tetrasomy 18p. FISH with chromosome-specific painting probes showed a deletion 18q in a girl with a cytogenetically balanced t(8;18). Two patients with deletions and two with 18 ring chromosomes were studied using a telomeric probe: both deletions had telomeric integrity and telomeric material was not present in the 18 rings. In a patient with an abnormal chromosome 18, the FISH analysis confirmed a pericentric inversion. We conclude from these results that FISH can provide a rapid and unequivocal cytogenetic diagnosis, which may improve genetic counseling.

Abnormalities, Multiple↗
PubMedDate not supplied

[Detection of aneuploidies using in situ hybridization in cells of the oral mucosa].

Aneuploidies have been traditionally diagnosed by chromosome analysis, however this method may be difficult to perform in certain cellular types or in severely ill patients. With the fluorescence in situ hybridization (FISH) technique it is possible to identify the number of specific chromosomes in interphase cells. In the present study we analyzed exfoliated epithelial cells from the oral mucosa of 15 patients with trisomy 21, and in six patients with mosaicism; five normal subjects were included for comparison. To allow the probe to reach its target DNA we first treated the keratin-surrounded membrane with pepsin during 20 minutes. In the 15 cases of trisomy 21, the cells showed five fluorescent signals indicating the presence of three chromosomes 21 and two 13, while the normal subjects showed four signals. In one girl with Turner syndrome and a karyotype 46,X+mar, the FISH analysis in 1000 cells revealed that the marker derived from chromosome X and there was a mosaicism 45,X/46,X,r(X). In the other patients with mosaicisms, we observed variations in the proportions of cells but the differences were not significant. In conclusion, interphase FISH on buccal cells showed to be a rapid, effective and non-invasive method for the diagnosis of chromosome aberrations, particularly when the cytogenetic study on lymphocytes is difficult to perform.

Aneuploidy↗