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Biomedical subjects

E D'Alessandro

Publications and source records attributed to E D'Alessandro.

At least 19 recordsLinked to original sources
PubMed1998

Adolescents on neuroleptic medication: is this population at risk for tardive dyskinesia?

OBJECTIVE: The assess the incidence of tardive dyskinesia (TD) in a sample of adolescents treated with neuroleptic medication and to identify the presence of any risk factors for TD within the affected group. METHOD: A retrospective chart review was conducted for 40 cases. The Abnormal Involuntary Movement Scale (AIMS) was used to measure side effects from medication at 6-month intervals over 2 years. Drug exposure was converted to chlorpromazine (CPZ) equivalent and the presence of risk factory for TD, such as a diagnosis of affective disorder, medication noncompliance, early age of illness onset, and concomitant antiparkinsonian medication, was also noted. RESULTS: Of the 40 cases reviewed, 2 patients (5%) met diagnostic criteria for TD, and another 5 patients (12.5%) showed symptoms of TD. CONCLUSIONS: TD is a serious risk at any age. Medication noncompliance, early age of illness onset, and concomitant use of antiparkinsonian medication may increase susceptibility to TD and should be carefully monitored.

Adolescent↗
PubMed1997

Analysis of microsatellite instability and loss of heterozygosity in keratoacanthoma.

We analyzed microsatellite instability (MSI) and loss of heterozygosity (LOH) at 17 microsatellite markers located on chromosomes 2p, 3p, 5q, 6q, 9p, 9q, 17p and 18q in 19 randomly selected keratoacantomas (KAS), in one cutaneous lesion that histologically could not unequivocally be differentiated from squamous cell carcinoma, and in one patient with multiple KAs of longstanding duration. The goals of our study were to determine whether, in a similar manner to some visceral carcinomas, genomic instability could be detected in KAs and to clarify whether molecular analysis might be useful to further characterize KA. MSI was observed in 2 of 21 cases (9.5%) at 5 of 17 loci examined. In one patient with a solitary KA, the presence of MSI and a family history of visceral malignant tumours suggested that the patient might have belonged to a family with Muir-Torre syndrome. In one other MSI+ KA, a definite differential diagnosis in relation to squamous cell carcinoma could not be established. In addition, one sample displayed LOH at 2 of 17 loci analysed whereas in the patient with multiple KAs, LOH at one locus was the only alteration found. In conclusion, the low frequency of MSI and LOH detected in our study suggests that these genetic events are uncommon in KA unless it is associated with a familial disease (e.g. Muir-Torre syndrome) or it has more aggressive histological features.

Aged↗
PubMed1997

Sister chromatid exchange (SCE) rates in human melanoma cells as an index of mutagenesis.

Melanomas are highly clonogenic. Genetic variability and polymorphism of tumour cell populations have been reported. However, no direct evidence of mutator activity as a source of genetic polymorphism for melanoma cells has been described. Some intermediates of melanin synthesis are cytotoxic and genotoxic and their mutagenic power has been described. We show here that the rate of sister chromatid exchange (SCE) of the line of human melanoma cells used varies with the concentration of the melanin precursor L-tyrosine, in the culture medium. An increase of melanin synthesis results in increased SCE rates. The highest values of SCEs are found in melanotic melanoma cells compared with the amelanotic ones. Indeed we present evidence that melanoma cells show higher levels of SCE when compared with normal human lymphocytes, and to the SCE frequencies derived from the literature on the lymphocytes of familial malignant melanoma, sporadic malignant melanoma patients and the lymphocytes of relatives of familial and sporadic melanoma patients.

Culture Media↗
PubMed1994

Cytogenetic findings in primary non-small cell lung cancer.

Non-small cell lung cancer (NSCLC) shows a complex cytogenetic heterogeneity and up to now no particular chromosomal aberration seems to characterize its malignant evolution. We therefore performed cytogenetic analyses of 20 primary NSCLC, 8 adenocarcinomas and 12 squamous cell carcinomas on direct preparations or short-term cultures. Only 1 case was analyzed after long-term culture. Results were obtained from 11 samples and clonal rearrangements were found in 3 cases, a diploid and a near-triploid clone with several aberrations such as i (9q), rob (14; 15) and rob (21; 21) in 1 case, a near-triploid clone in 1 case, and Y chromosome loss in 1 case. Other aberrations found were sporadic, but +7 aneuploidy and translocations involving 1p were detected in 2 and 3 samples respectively. Although to date it has been very difficult to recognize primary changes in NSCLC, nevertheless a literature review and our results indicate that i(9q) and robertsonian translocations are relevant findings.

Aged↗
PubMed1994

Partial monosomy of 7q32 in a case of de novo rcp(7;15)(q32;q15).

A de novo apparently balanced translocation between chromosomes 7 and 15 with breakpoints in q32 and q15 respectively is reported in a female child. Clinical features included general growth and psychomotor retardation, feeding problems, microcephaly, low set ears, a short neck, and brachydactyly. These findings suggested possible physical or functional partial monosomy of the 7q32 or 15q15 segments. The phenotype of this case is similar to other cases of 7q deletion.

Abnormalities, Multiple↗
PubMed1993

Chromosome heteromorphisms and early recurrent abortions.

In order to identify the role played by heterochromatic polymorphisms in miscarriage, an analysis was carried out on 257 couples, 137 of them with two or more abortions and 120 serving as a control. All couples were taken from two Italian populations: 77 cases and 70 controls came from an exogamic population whilst 60 cases and 50 controls came from an almost endogamic one. Out of the 137 cases, six couples in the exogamic and five in the endogamic groups were excluded because at least one partner had balanced chromosomal aberrations. Four controls from the exogamic group were also excluded for the same reason. The remaining 126 cases were analysed to detect the presence of chromosomal heteromorphism in one or both partners. The results suggested that chromosomal heteromorphism does not induce miscarriage. In fact, only one heteromorphism, inv(9)(p11q12), seems to be marginally related to recurrent abortion and only in the exogamic population. In addition no differences were found in the distribution of chromosomal heteromorphism in the couples analysed in relation to the number of abortions, i.e. two or more than two.

Abortion, Habitual↗
PubMed1992

Cytogenetic findings in terminal large cell transformation in a case of Sézary syndrome.

A long-lasting case of Sézary syndrome, whose chromosomal pattern had been repeatedly investigated during a follow-up period of several years, was studied in the terminal transforming phase, which took place more than 5 years after the initial diagnosis. To the best of the authors' knowledge, this appears to be the first instance of cytogenetic studies carried out in a large cell transformation of cutaneous T-cell lymphoma. The results clearly indicate that the atypical large cells seen in the transforming phase were clonally derived from the pre-existing cerebriform cells. Newly detected relevant cytogenetic findings were: a) drop of tumor cell ploidy from hypotetraploid to hypotriploid, with striking chromosomal imbalance; b) additional structural aberrations of chromosomes 2 and 7, which had been already preferentially involved in the earlier phases, and involvement of the previously unaffected chromosomes 1, 3, and X; and c) presence in 100% of the abnormal metaphases of a large HSR on the long arm of chromosome 17.

Aged↗
PubMed1992

[Evaluation of the anti-inflammatory effect and tolerability of tenoxicam in short-team treatment of osteoarthrosis in the aged].

The authors report their experience with short-term (10 days) tenoxicam treatment in 20 patients with osteoarthritis at various localizations. The drug was administered at the following dosages: 20 mg twice daily for the first two days, and 20 mg daily for the following 8 days. Treatment proved effective in controlling pain and functional impairment. No dropouts due to side effects nor significant changes of laboratory parameters were observed. Therefore, tenoxicam may be considered an effective and well tolerated non steroid antiinflammatory agent for the treatment of active stages of osteoarthritis.

Aged↗
PubMed1991

Paracentric inversion of chromosome 15(q15q24): description of three families.

Three unrelated families with paracentric inversion of chromosome 15(q15q24) are reported. An additional pericentric inversion of chromosome 9 with breakpoints in p11.2q13 was also observed in one of the three families. Reproductive problems, such as stillbirths, spontaneous abortions and two live-born children with multiple abnormalities, were present.

Adult↗
PubMed1990

Nonrandom chromosome changes in multiple sclerosis.

In order to study the role of genetic factors in multiple sclerosis, cytogenetic analysis was performed on 48 patients with the clinically defined disease. We found a high incidence of subjects (50%) with abnormal chromosomes, showing premature centromere division of the X chromosome and structural aberrations, translocations, or deletions that could suggest preferential breakpoints. Correlation between clinical and cytogenetic data showed that cytogenetic abnormalities were more common in patients with high frequency of relapse or with a progressive form of the disease.

Adolescent↗
PubMed1990

Cytogenetic follow-up in a case of Sézary syndrome.

A cytogenetic follow-up study was performed for a 3-year period on a 70-year-old patient with Sézary syndrome (SS). The results showed formation of hypotetraploid cell clones with 60 to 89 chromosomes and 19 markers, some of which appeared during the period of study and stabilized thereafter. The incidence of these clonal cells increased from 29% to 85% during the follow-up study. The results confirm the presence of hypotetraploid cell clones, especially in the more advanced stages of SS. Moreover, some marker chromosomes in our patient (M2 and M3), derived from chromosome 2, were similar to those observed in SS by other investigators. According to our data and to those in the literature, SS appears to involve preferentially chromosomal regions 2p12-13, 2p21-22, 2q37, 17p13, 13q1, 9q11, 10p13, 14q11, 14q32, 7p1 and, to a lesser extent, 5q and 6q.

Aged↗
PubMed1988

Pericentric inversion of chromosome 19 in three families.

Pericentric inversion of chromosome 19 has been found in several members of three unrelated families from a restricted geographical region. In one of the families, an additional pericentric inversion of chromosome 9 was observed. Reproductive problems, multiple abortions in two families and a neonatal death in the third, were present. A review of previously described cases is included, and the genetic risk connected with this type of rearrangement is also discussed.

Abortion, Spontaneous↗
PubMed1984

Familial centric fission of chromosome 4.

A centric fission of chromosome 4 is described in the proband and his mother, both phenotypically normal. In addition, partial monosomy for the long arm or the short arm or both of chromosome 4 may have been present in two of the proband's sibs who died in infancy and childhood, respectively.

Centromere↗