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Biomedical subjects

L Stuppia

Publications and source records attributed to L Stuppia.

At least 91 records · Page 5Linked to original sources
PubMed1990

Is zinc deficiency a cause of subclinical hypothyroidism in Down syndrome?

In Down syndrome there is a high incidence of overt or subclinical hypothyroidism as well as some immunological defects, early thymic involution associated to low serum zinc levels. Zinc supplementation to the diet has been reported to transiently improve thymic function; moreover thymic function has been shown to be in relation with the pituitary-thyroid axis. The aim of this study was to evaluate if, in Down patients, zinc therapy could improve also thyroid function, by determining serum levels of total and free thyroid hormones and basal TSH levels. In 52 patients studied, we found a high incidence of subclinical hypothyroidism (30%); in 17 patients treated with zinc sulphate we showed a reduction of FT3. More significantly, we detected 9 patients with low zinc levels in which zinc supplementation improved thyroid function, thus reducing the incidence of subclinical hypothyroidism.

Adolescent↗
PubMed1990

Hinf I restriction endonuclease digestion on human fixed metaphase chromosomes.

The authors report on the activity of Hinf I restriction endonuclease on human fixed metaphase chromosomes. Experiments performed by digesting chromosomes just after harvesting or after ageing in methanol-acetic acid displayed a different pattern of digestion on metaphases, since only aged preparations showed gaps on heterochromatic regions of chromosomes 1, 9 and 16 and C-like bands on other chromosomes. In this view, the authors suggest that structural modifications of the DNA, induced by acid fixation, can influence Hinf I activity on fixed metaphase chromosomes.

Chromosomes↗
PubMed1989

Cytogenetics in patients with chronic myelogenous leukemia treated with bone marrow transplantation.

Cytogenetic data are reported from 16 patients with Philadelphia chromosome (Ph) positive chronic myelogenous leukemia (CML) treated with bone marrow transplantation (BMT). The usefulness of cytogenetic investigations for the assessment of marrow engraftment is stressed. The significance of persistence or reappearance of Ph after BMT, possibly due to a defective leukemic clone eradication by the conditioning regimen, is also discussed. Generally, Ph-positive cells are damaged and disappear within the first year of BMT. Sometimes, however, the cells may repair the damage and proliferate again, resulting in disease relapse. Rarely, clinical and hematologic relapse does not follow Ph-positive clone expansion although leukemic cells represent more than 50% of marrow metaphases examined. Finally, the effect of interferon on Ph-positive clones after BMT and random chromosome changes, that appear transiently after BMT and are of uncertain significance, are discussed.

Adolescent↗
PubMed1989

A new case of partial 2p trisomy due to de novo interstitial duplication 2p21-22.

We report on a case of "de novo" interstitial duplication of bands 2p21-22 in a 31-month-old female with mild mental retardation and dysmorphism. Cytogenetic investigations were performed on peripheral blood by adding 5-BrdU and 5-FdU. Measurements of enzymatic activity of malate dehydrogenase, whose gene has been mapped on the band 2p23, added reliability to the identification of bands 2p21-22 as the duplicated segment. The authors suggest that the duplication of this segment is able to cause the clinical picture of the syndrome of partial 2p trisomy.

Abnormalities, Multiple↗
PubMed1988

A new case of chronic myelogenous leukemia with 14q+ marker and review of the literature.

We report a new case of Ph 1 positive chronic myelogenous leukemia (CML) with 14q+ marker shown during chronic phase (CP) and subsequently in blastic crisis (BC). After a review of the literature, we discuss the biological significance of 14q+ marker in developing lymphoid cellular differentiation, during evolution of CML, that remains still unclear. Besides, we also discuss the prognostic value of this change, concluding that a larger number of cases may clarify this question, as also the unresponsivity to chemotherapy of the patient studies so far, may not be related to 14q+ marker.

Adult↗
PubMed1987

[Cytogenetic study of 140 patients with changes in sexual features].

Cytogenetic studies on a group of 140 patients with alterations of sex features (sex uncertainty, gynecomasty, menstrual abnormality and so on) confirmed a high incidence of chromosome abnormalities (25%). Most frequent abnormal kariotypes were X0 and XXY. Furthermore, cytogenetic investigations showed a higher rate of heterochromatic polymorphism in patients (33.7%) than in controls (13.4%), the most frequent being 1qh, 9qh and 16qh. A possible role of heterochromatic polymorphism in determining sex chromosome abnormalities or, directly, sex diseases, and in possibly enhancing neoplastic risk, is suggested.

Adolescent↗
PubMed1987

Chromosome changes in 19 patients with Waldenström's macroglobulinemia.

We report on 19 patients with Waldenström's macroglobulinemia (WM) who were studied cytogenetically at the onset and during progression of the disease. We found a high frequency of chromosome changes confirming the claim of other authors that, during progression of the disease, a large number of residual neoplastic cells, insensitive to conventional chemotherapy, persist. In turn, this may be the cause of the difficulty of inducing remission (21% of cases) and of the short survival (mean, 35 months). In our experience it is difficult to identify the primary chromosome abnormalities because of the late clinical stage at which the chromosomes were examined. However, changes involving chromosomes #10, #11, and #12 may be unfavorable events in patients with WM.

Adult↗
PubMed1987

On chromosomal DNA modifications by chemical and physical treatment of C-bands.

Experiments were performed on fixed metaphase chromosomes using standard techniques for revealing paracentromeric heterochromatin (C bands) followed by staining with acridine orange with the aim of studying C-banding mechanism. Data obtained suggest that the specific resistance to the chemical-physical treatments of the heterochromatic areas is a consequence of the particular structural conditions that the C-positive material shows only after its early renaturation.

Acridine Orange↗
PubMed1986

Cytogenetics and bone marrow transplantation.

The authors report hematologic and cytogenetic data on 19 patients treated with allogeneic bone marrow transplantation (BMT) for severe hematologic disorders: 8 patients with chronic myelogenous leukemia, 6 with acute leukemia, 3 with severe aplastic anemia, 1 with refractory anemia, and 1 with beta-thalassemia major. Cytogenetic assays were performed on marrow cells before conditioning, 30 days after BMT, and at subsequent times. The authors discuss the role of cytogenetic studies in the evaluation of bone marrow engraftment, leukemic transformation of the graft, and disease relapse.

Acute Disease↗
PubMedDate not supplied

Detection of an insertion deletion of region 8q13-q21.2 in a patient with Duane syndrome: implications for mapping and cloning a Duane gene.

Duane syndrome (MIM126800) is an autosomal dominant disease responsible for 1% of all strabismus cases and has been related to a 8q12-13 contiguous gene syndrome. We report on an insertion of chromosome region 8q13-q21.2 on to band 6q25 in a patient presenting with Duane syndrome, mental retardation, and other dysmorphisms. FISH analysis using chromosome 8 radiation hybrid LIA2L indicated a concurrent deletion within the 8q rearranged region. These results were corroborated by STR-PCR analysis and FISH using YAC contig WC8.8 disclosed a deletion in 8q13. Comparison of the two known patients with Duane syndrome associated with deletion of 8q identifies a small region of overlap (SRO) of < 3 cM extending from D8S533 and D8S1767 in which a Duane syndrome locus is assigned. In addition YAC analysis in our patient showed that 8q rearrangement was rather complex since 8q deletion and insertion occurred in two distinct segments separated by a region which maintained its location on 8q.

Child↗
PubMedDate not supplied

Detection of apoptosis in peripheral blood cells of 31 subjects affected by Down syndrome before and after zinc therapy.

Thirty-one patients affected by Down syndrome (DS) were investigated to study the presence of apoptosis in peripheral blood cells in relation to the plasma levels of zinc. Twelve patients had undergone therapy with ZnSO4, while the remaining 19 were untreated. The presence of programmed cell death was evaluated by means of electron microscopy, in situ nick translation (NT), and agarose gel electrophoresis of DNA. These approaches evidenced the presence of apoptosis in peripheral blood cells of patients before therapy with ZnSO4, while after zinc supplementation there was a reduction in the number of apoptotic cells. These results suggest that the process of programmed cell death in peripheral blood cells of patients with Down syndrome is related to the plasma levels of zinc ion.

Adolescent↗
PubMedDate not supplied

Immunohistochemical evaluation of CD31 in human cystic radicular lesions and in keratocysts.

Platelet-endothelial cell adhesion molecule-1 protein (PECAM-1/CD31) is expressed in numerous physiological and pathological processes characterized by an increase of vascular permeability, and in normal and tumour tissues. CD31, member of the immunoglobulin super-family that mediates cell-to-cell adhesion, is a transmembrane glycoprotein, 130-140 kDa, also know as platelet-endothelium cell adhesion molecule (PECAM-1). CD31 is a ligand for CD38 and plays a role in thrombosis and angiogenesis. CD31 is strongly expressed in endothelial cells and weakly expressed in megakaryocytes, platelets, occasional plasma cells, lymphocytes (marginal zone B-cells, peripheral T-cells) and neutrophils. The present study evaluates the angiogenetic processes which are accompanied by an expansion of cystic radicular and keratocystic lesions of the jaw bone. Twelve subjects with maxillary cysts (8 males and 4 females) with an average age of 43 years were selected by the Chieti University Oral Surgery Department. The surgical samples taken were subjected to histological and immunohistochemical analysis. The histological evaluation confirmed the diagnosis of radicular cystisis and keratocystisis. The immunohistochemical analyses were positive for CD31 protein in all the lesions analysed, even though they had different intensities. Using a semiquantive analysis it was possible to highlight, in the radicular cyst samples, an intense expression of the vascular component both in the inflamed area and the adjacent stroma. The lesions with cheratin content showed newly-formed, rather modest, vascularity both in the area showing slight inflammation, where the cellular component is prevalent, and in the adjacent areas showing no sign of inflammation. Therefore, in our observations, angiogenesis could take on a primary role in the development of cystic lesions of the jaw bones. The differences of CD31 expression, in all samples, would advise for a wider monitoring able to evaluate the possible use of such a protein as a diagnostic marker.

Adult↗
PubMedDate not supplied

[Cytogenetic study of 201 subjects with altered reproductive fitness].

The A. report a cytogenetic study performed on 201 subjects with a defective reproductive fitness. In total, they detected 37 chromosomal changes (18.4%): 7 in 48 subjects (24 couples) with sterility (14.5%), 11 in 96 with hypogonadism and/or criptorchidism (11.4%), 15 in 38 women with oligoamenorrhoea (39.4%) and 4 in 4 patients with Morris syndrome (100%). On the contrary, no chromosomal change was detected in 15 patients with pure gynecomastia. The A. discuss the significance of these chromosomal aberrations, and particularly: the mosaicism XO/XX, because this chromosome picture may be associated with fertility, as in our case; the isodicentric X, because the patient showed the clinical features of the Turner's syndrome; the inv(11), because the patient showed a progressive oligoamenorrhoea, leading us to retain that some chromosome changes, by determining a severe gametic selection, may cause infertility in these subjects. the t(13;14), detected in men with azoospermia, because these changes confirm the presence of a gametic selection, mostly in men. Therefore, according to other reports, the A. suggest that the cytogenetic investigations should be performed in all subjects with abnormal reproductive fitness, for a more accurate diagnostic iter.

Adult↗