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Biomedical subjects

V Caputo

Publications and source records attributed to V Caputo.

At least 19 recordsLinked to original sources
PubMed2004

High frequency of subtelomeric rearrangements in a cohort of 92 patients with severe mental retardation and dysmorphism.

About 5-10% of patients with dysmorphisms, severe mental retardation, and normal standard karyotype are affected by subtelomeric chromosome rearrangements. Sequence homology between different chromosomes and variability between homologs make these regions more susceptible to breakage and reunion. We analyzed the telomeric regions of 92 of these patients, selected with strict clinical criteria. Fifteen individuals (16.3%) had subtelomeric rearrangements. Nine had a unique anomaly, which in one case had been inherited from a balanced parent. Six subjects had double segmental imbalances, including three de novo imbalances. This study provides further evidence for the plasticity of subtelomeric regions, which often results in cryptic rearrangements, and recommends stringent criteria for selecting patient candidates to telomere analysis.

Child↗
PubMed2003

The chromosomal complement of the artedidraconid fish Histiodraco velifer (Perciformes: Notothenioidei) from Terra Nova Bay, Ross Sea.

The karyotype of Histiodraco velifer from the Antartic Ocean was analyzed using various banding methods and in situ hybridization with a telomeric probe. A male and a female had a diploid set of 46 chromosomes (6 submetacentric + 40 acrocentric, FN = 52); the nucleolar organizer was CMA3-positive and was located on the short arm of a medium-sized submetacentric pair. All chromosomes stained uniformly with DAPI, whereas C-banding revealed heterochromatic blocks that were mostly located centromerically and telomerically and were resistant to ALUI digestion. The substantial identity of the karyotype of H. velifer with that of the other artedidraconids investigated so far suggests that chromosome changes must have played a less than significant role in the speciation among the lineages of this fish family endemic to Antarctica.

Animals↗
PubMed2003

Chromosome banding and molecular cytogenetic study of two Mediterranean trachinoid fish species (Teleostei: Trachinidae, Uranoscopidae).

The chromosomes of Echiichthys vipera (Trachinidae) and Uranoscopus scaber (Uranoscopidae) were analyzed by means of various banding methods and fluorescence in situ hybridization (FISH) with telomeric and major rDNA probes, respectively. The karyotype of E. vipera was composed of 48 acrocentric chromosomes and NOR sites, as revealed by all detection methods, were situated pericentromerically on a single pair of middle-sized chromosomes. Blocks of constitutive heterochromatin were present in the pericentromeric regions of all pairs of chromosomes. The karyotype of U. scaber showed three karyomorphs: 2n = 30 (18 m + 12 a/st [m = metacentric, a = acrocentric and st = subtelocentric]), 2n = 28 (20 m + 8 a/st), 2n = 27 (21 m + 6 a/st). NORs, as revealed by FISH, were situated pericentromerically on a single pair of middle-sized chromosomes in spite of Ag-positive signals in the centromeres of all pairs of chromosomes. Robertsonian fusions were hypothesized for observed variation due to invariable number of chromosome arms FN = 48.

Animals↗
PubMed2002

PARK6 is a common cause of familial parkinsonism.

The Parkin gene is responsible for about 50% of autosomal recessive juvenile parkinsonism (ARJP) and less than 20% of sporadic early onset cases. We recently mapped a novel ARJP locus (PARK6) on chromosome 1p. Linkage to PARK6 was confirmed in 8 families from 4 different European countries. These families share some clinical features with the European Parkin-positive cases, with a wide range of ages at onset and slow progression. However, features typical of ARJP, such as dystonia and sleep benefit, were not observed, making the clinical presentation of late-onset cases indistinguishable from that of idiopathic PD. The determination of the smallest region of homozygosity in one consanguineous family allowed reducing the candidate interval to 9 cM. PARK6 appears to be an important locus for ARJP in Europe.

Chromosomes, Human, Pair 1↗
PubMed2002

Chromosomal studies on ten species of notothenioid fishes (Notothenioidei: Bathydraconidae, Channichthyidae, Nototheniidae).

The results of a cytogenetic study conducted with banding and in situ hybridization techniques using ribosomal and telomeric probes on various species belonging to three families (Bathydraconidae, Channichthyidae and Nototheniidae) of the perciform suborder, Notothenioidei, are reported. The heterochromatin distribution and composition, nucleolar organiser and localisation of telomeric sequences seem to indicate that both in karyologically conservative families such as channichthyids and in families exhibiting greater karyological variability, certain DNA fractions like ribosomal genes and centromeric and telomeric DNAs are prone to some variability. This could play an important role in favouring or hampering chromosome rearrangements.

Animals↗
PubMed2001

Cytogenetics of nine species of mediterranean blennies and additional evidence for an unusual multiple sex-chromosome system in Parablennius tentacularis (Perciformes, Blenniidae).

The chromosomal complements of nine species of Blenniidae (Aidablennius sphylnx, Blennius ocellaris, Lypophris adriaticus, L. pavo, L. trigloides, Parcablennius gattorugine, P. ponticus, P. sanguinolentus, P. tentacularis) from the Adriatic Sea were analysed with several banding methods and in-situ hybridization. In all species, the diploid set consists of 48 mostly acrocentric chromosomes and has a similar location (terminal centromeric) of NORs, except for L. pavo (interstitial pericentric) and P. ponticus (terminal on the long arm). There are major differences in karyotype with regard to the amount and distribution of heterochromatin. Parablennius tentacularis shows a distinctive sex-chromosome system involving 2n = 48 males with a large totally heterochromatic Y chromosome, and males with 2n = 47. This difference is likely to be the consequence of a translocation of an autosome on the original Y. This finding constitutes an additional instance of the great variability in origins of multiple sex chromosome systems in vertebrates.

Animals↗
PubMed2001

Response charactterization of ammonium tartrate solid state pellets for ESR dosimetry with radiotherapeutic photon and electron beams.

Solid state pellets (1 mm thick) for electron spin resonance (ESR) dosimetry were made using ammonium tartrate as the radiation-sensitive substance. Their behaviour was experimentally investigated as a function of dose with 60Co gamma rays. The calibration function obtained permits measurements of absorbed dose in the 2-50 Gy range, with a combined uncertainty of +/-4%. The lowest detectable dose was about 0.5 Gy. These properties are comparable with or even better than those of ESR dosimeters made from other materials. The time stability of the ESR signal of ammonium tartrate dosimeters at different storage conditions after irradiation was studied. A rather complex behaviour was observed, which suggests that more species of free radicals are produced by radiation and that migration processes may be effective. No dependence of the response on beam quality was found for high-energy photon and electron beams produced by a linear accelerator used in radiotherapy, whereas dose was underestimated with low-energy x-rays.

Biophysical Phenomena↗
PubMed2000

Molecular and cytogenetic analysis of the goby Gobius niger (Teleostei, Gobiidae).

A molecular cytogenetic study of Gobius niger has been conducted by treating its mitotic chromosomes with silver-, CMA3- and DAPI-staining and fluorescent in situ hybridization using four multicopy or repetitive DNAs (the 28S and 5S rDNAs, the TTAGGG telomeric repeat and the mariner-like elements) as probes. In particular, the study proved the presence of NOR heteromorphism and suggested the possible role of the transposable element mariner in its genesis. In situ hybridization with the 5S rDNA probe proved the presence of just one 5S-bringing chromosome pair, whereas hybridization with the telomeric repeat revealed small bright hybridization spots, uniform in size and intensity, on each telomere of all chromosomes but no interstitial signals were noticed.

Animals↗
PubMed1998

Cytogenetic studies in some species of Scorpaeniformes (Teleostei: Percomorpha).

Cytogenetic studies were performed in four species of two scorpaeniform teleost families: Scorpaenidae and Triglidae. The karyotypes of Trigla lucerna, Trigloporus lastoviza (Triglidae), Scorpaena porcus and S. notata (Scorpaenidae) were analysed using various banding methods and in situ hybridization with a telomeric probe. In the two Scorpaena species, modest morphological divergence corresponded to considerable karyotype reorganization, while in the two Triglidae substantial phenotypical divergence corresponded to limited chromosomal changes. These data stress the need for a taxonomical re-evaluation of these teleosts based on characters independent of morphology.

Animals↗
PubMed1998

Neuroendocrine, immunohistochemical, and ultrastructural study of pineal region tumors.

Thirteen patients with tumors in the pineal region were submitted to pre- and post-operative blood sampling (08:00, 14:00, 20:00, and 02:00 hr) for three or four consecutive days. A single cerebrospinal fluid (CSF) sample was collected at surgery, and melatonin levels determined. In all patients, serum and CSF beta subunit of human chorionic gonadotrophin (betaHCG), carcino embryonic antigen (CEA), and alpha-fetoprotein (AFP) levels were measured. Histology revealed four pineocytomas, one pineoblastoma, four germinomas, one immature teratoma, one pilocytic astrocytoma, one lymphoma, and one meningioma. Serum and CSF levels of serological biomarkers were normal, except for one of the germinoma cases. In most patients, alteration either in the circadian rhythm or in the melatonin concentration was observed before surgery. In benign neoplasms the circadian rhythm was conserved. In pineoblastoma, lymphoma, and three out of four germinomas, melatonin concentrations were undetectable. In one case of germinoma, melatonin levels were high, with the circadian rhythm being abolished. According to conventional histology, all germinomas were similar. Therefore, in a rare case of pineal germinoma with high melatonin levels, the tissue was subjected to an in depth investigation (immunohistochemical and ultrastructural) in order to determine the pathology and the possible differences from the other typical germinomas. Results were compared to those provided from other pineal neoplasms. Electron microscopy examination detected the presence of clusters of intermediate filaments and numerous electrondense granules only in the case of a germinoma producing melatonin.

Adult↗
PubMed1997

Cervicomediastinal hibernoma.

Hibernoma is a benign soft-tissue tumor, derived from the brown fat, that often presents as a painless, slow-growing mass. About 100 cases of hibernomas have been reported in the world literature. Seven cases of intrathoracic hibernoma are reported, of which only 1 was located in the mediastinal region. That tumor was an intramediastinal hibernoma with a cervicomediastinal location, which was excised through an extended left supraclavicular incision without the necessity to perform a sternotomy. No recurrence was evident after 18 months.

Adult↗
PubMed1997

Cerebral rhabdomyosarcoma with rhabdoid tumor-like features.

The present paper describes a case of cerebral neoplasm presenting histological-immunohistochemical characteristics of malignant rhabdoid tumor (MRT) and ultrastructural features of both MRT and rhabdomyosarcoma (R). MRT was first described as an aggressive neoplasm of unknown histogenesis of the kidney, then many other sites of onset were reported, including the central nervous system. However, it has been shown that other tumors of known histogenesis can mimic histologic and ultrastructural features of MRT. On the basis of our findings we agree with authors who support the notion that extrarenal MRT has often a different histogenesis from MRT of kidney, and it probably is a 'phenotypic' entity rather than a distinct pathologic entity.

Brain Neoplasms↗
PubMed1997

High heterochromatin content in somatic chromosomes of two unrelated species of Diplopoda (Myriapoda).

For the first time, a conventional analysis of C-banded karyotypes was carried out in two distantly related diplopod species; this revealed an impressive percentage of heterochromatin in both genomes. In Acanthopetalum sicanum (Order Callipodida) (2n = 12), heterochromatin constitutes about 60% of the total DNA in females and 56% in males, whereas in Enologus oxypygum (Order Julida) (2n = 22) it is about 67% in both sexes. Heterochromatin of the two species was found to be similar in base composition (AT rich) and heterochromatin distribution, indicating that it has accumulated in a species-specific manner. Sex-determining mechanisms of the XY type were detected in both A. sicanum and E. oxypygum. In A. sicanum, the Y presented the lowest heterochromatic content of all chromosomes in the karyotype, whereas the X presented the highest.

Animals↗
PubMed1997

Heterochromatin heterogeneity and chromosome variability in four species of gobiid fishes (Perciformes:Gobiidae).

A karyological study of four species of gobiid fishes, Gobius niger, G. paganellus, G. cobitis, and Zosterisessor ophiocephalus (Perciformes, Gobiidae), was conducted by standard, fluorochrome staining (using chromomycin A3, mithramycin, and DAPI), Alu-I digestion, and CBG- and RBG-banding methods. Our cytogenetic data indicate that heterochromatin in these taxa is highly differentiated, exhibiting heterogeneity in staining characteristics, and presumably in underlying DNA sequences, and a different capability for promoting Robertsonian fusions.

Animals↗
PubMed1997

CT-guided fine-needle aspiration cytology of solitary pulmonary nodules: a prospective, randomized study of immediate cytologic evaluation.

STUDY OBJECTIVE: To evaluate the immediate cytologic assessment during CT-guided fine-needle aspiration cytology (FNAC) in the diagnosis of operable indeterminate solitary pulmonary nodules (SPNs). DESIGN: Prospective randomized study. PATIENTS AND METHODS: Two hundred twenty patients with SPN undergoing CT-guided FNAC were divided into two groups. In the first one (group A, 110 patients), a cytologist assessed the adequacy of the sample obtained immediately, and when the sample was considered inadequate, fine-needle aspiration (FNA) was repeated. In the second group (B, 110 patients), an immediate cytologic examination was not performed, but only a gross assessment by the surgeon. Histologic study of the SPN was possible in 217 cases, whereas three patients were followed up radiologically. RESULTS: Adequate samples were obtained in 100% of group A and 88% of group B (p<0.001). The diagnostic accuracy was 99% in group A and 81% in group B (p<0.001). Group A required a mean of 1.22 FNAs compared with 1.10 in group B (p=0.015). The rate of pneumothorax in the whole series was 24%, and statistically significant differences between the two groups were not detected. CONCLUSIONS: Immediate cytologic study significantly increased the adequacy and diagnostic accuracy of CT-guided FNAC of indeterminate SPNs without causing a significant increase of complications.

Biopsy, Needle↗