Search PubMed⌕ Search

Biomedical subjects

A Scalise

Publications and source records attributed to A Scalise.

At least 37 records · Page 2Linked to original sources
PubMed1998

Design and development of an electro-optic measurement system for 3-D topographic surveys: application to skin nevoid lesions.

OBJECTIVE: The authors designed and developed a system for the measurement of skin lesions geometrical proprieties. The measured characteristics can be of extreme importance in order to provide elements for the early diagnosis of melanoma. SUMMARY BACKGROUND DATA: Actually, medical experience and prevention are the only instruments for melanoma diagnosis. Some studies have been conducted with thermocameras and with ecography and photoacoustics spectrography. METHODS: A scanning laser-based measurement system for non-contact shape measurement has been designed and tested. The system measurement characteristics have been studied to assure an accurate reconstruction of skin lesion surface characteristics. The laser sensor is fixed on a motorized system that scans the lesion surface. All the controls on the scanning system and on the recording of data have been automated and are software-controlled. RESULTS: Full success in the measurement and reconstruction of the skin lesions characteristics has been reached. An accuracy of 0.03 mm has been obtained with the system. Measurements of the height and perimeter of many suspected lesions have been performed. CONCLUSIONS: The research reported in this work has demonstrated the applicability and usefulness of the proposed method by means of an in-vitro prototype-version measurement system. The possibility of surveying the shape of skin lesions by means of a non-contact electro-optic measurement plays an important role in the objective evaluation of in vivo pigmented suspected nevoid lesions (melanoma). Next steps include the study of a possible correlation between topographic elements and histological tests and the possibility of controlling suspected lesions employing this technique both in the diagnostic and the follow-up phases.

Humans↗
PubMed1998

Ipsilateral motor activation in patients with cerebral gliomas.

OBJECTIVE: The aim of this study is to provide neurophysiologic evidence of ipsilateral hemispheric activation in patients affected by intracerebral gliomas via the use of transcranial magnetic stimulation. BACKGROUND: The mechanisms involved in such ipsilateral activation have yet to be established, but they may involve preexisting routes that either are suppressed or undetected in the normal brain. Ipsilateral pathways may act in reserve, activated by the impairment of contralateral control. This hypothesis is suggested by the fact that the considerable size of the tumors in our patients is not matched by a proportionate loss of motor performance in the limbs contralateral to the affected hemisphere. However, it remains possible that ipsilateral motor-evoked potentials (iMEPs) may reflect reorganizational changes without significant functional effects. METHODS: The effects of such activation were investigated using both focal and nonfocal coils stimulating cortical motor areas, with MEPs recorded from both left and right thenar muscles. Fifteen healthy control subjects and seven patients were examined. RESULTS: iMEPs were generally absent in normal subjects, but in contrast they were obtained in the patients by stimulating the healthy hemisphere using both round and figure-of-eight coils. Distinct from contralateral MEPs, iMEPs are obtained with higher thresholds (range, 60 to 80% of stimulator output) and display longer latencies (20.9 msec versus 19.4 msec). CONCLUSIONS: Taken in conjunction with recent research using functional imaging brain exploration and a variety of clinical, anatomic, and neurophysiologic studies, our results reflect a growing awareness of ipsilateral motor control and its potential compensatory role when contralateral routes are damaged.

Adult↗
PubMed1997

Evidence for the embryonic origin of partial chromosome 7 deletion in monozygotic twins with juvenile chronic myelogenous leukemia.

During donor evaluation for allogeneic bone marrow transplantation (BMT) of a 28-month-old child with juvenile chronic myelogeneous leukemia (JCML) with 46,XY,-7,+mar karyotype, the potential donor twin brother was found to be thrombocytopenic. Subsequent genotype analysis determined monozygosity with 98% probability. Bone marrow analysis of the twin brother revealed the same 46,XY,-7,+mar karyotype and a diagnosis of JCML was made. Metaphase FISH studies documented that mar chromosome in both twins contains the pericentromeric region of chromosome 7 and thus both twins had a partial monosomy of chromosome 7. A possible embryonic origin of del(7) is proposed.

Antineoplastic Agents↗
PubMed1997

Disparate lympho-erythroid donor to recipient chimaerism in a beta(0)-thalassaemia bone marrow transplant recipient with red cell indices indicative of apparent full engraftment.

A 4-year-old girl with transfusion-dependent beta(0)-thalassaemia received an HLA-identical bone marrow transplant (BMT) from her beta(0)-thalassaemia trait sister. Prior to BMT, chromosomal analysis revealed the recipient to have 46,XX,9qh+, a polymorphic variant of the heterochromatin region of chromosome 9, which her donor did not have. Within 1 month post-BMT, 89% of nucleated bone marrow cells were of donor origin. One year later, donor engraftment had decreased to 44% and 34% in nucleated bone marrow cells and blood lymphocytes, respectively. By 2 years, donor lymphocyte engraftment fell to 5%, raising concern of possible graft rejection. To examine erythroid chimaerism, globin synthesis by individual erythroid progenitor cell derived colonies (BFU-E) was analysed. On days 1000 and 1130 post-BMT, 79% and 77% of colonies, respectively, synthesized beta-globin and therefore were of donor origin.

Bone Marrow Transplantation↗
PubMed1997

Nocturnal sleep and daytime somnolence in untreated patients with temporal lobe epilepsy: changes after treatment with controlled-release carbamazepine.

PURPOSE: To define sleep disturbances in patients with temporal lobe epilepsy (TLE) and explore the association between carbamazepine (CBZ) therapy, sleep, and daytime somnolence. METHODS: We recorded nocturnal polysomnography and measured subjective and objective daytime somnolence in a group of newly diagnosed TLE patients, who had no evidence of anatomic brain lesion on neuroimaging and had never been treated before. Recordings were performed at baseline, after the initial administration of 400 mg CBZ-controlled release (CR) and after 1 month of treatment (400 mg twice daily b.i.d.). The findings were compared with those of a group of young healthy volunteers, both at baseline and after the first administration of CBZ. The chronic effect of CBZ-CR treatment was evaluated only in TLE patients. RESULTS: At baseline, nocturnal sleep patterns of TLE patients did not show marked alterations when the influence of seizures, cerebral lesions, and drugs had been ruled out. In both the TLE and the control groups, initiation of CBZ therapy provoked a reduction and a fragmentation of rapid eye movement (REM) sleep and an increase in the number of sleep stage shifts. In the TLE group, these effects were almost completely reversed after 1 month of treatment, and no significant difference was noted between baseline condition and long-term follow-up. With regard to daytime sleepiness, initial administration of the drug caused an increase in objective sleepiness only in the control group. Subjective sleepiness was higher in the control group than in the TLE group but was not modified by the drug. CONCLUSIONS: We conclude that CBZ-CR has negative effects on REM sleep during initial administration but chronic treatment does not significantly modify nocturnal sleep or daytime somnolence.

Adult↗
PubMed1996

Gigantic epidermoid cyst of the skull.

One case of an unusually giant epidermoid cyst of the skull is described. The neoformation had been present for 40 years, becoming extremely large in the last 20 years, in a 65-year-old woman. Difficulty in wearing glasses was the sole complaint of the patient, who otherwise concealed the mass by wearing a wig. Preoperative examinations (x-rays, CT scan, MRI) were important to better evaluate the nature of the cyst and to make a differential diagnosis. Dissection of the mass from the surrounding tissues was extremely easy because of its capsule. Sixteen months of follow-up have been pleasant, with no evidence of recurrence.

Aged↗
PubMed1996

Valproate-induced systemic lupus erythematosus in a patient with partial trisomy of chromosome 9 and epilepsy.

We report a mentally retarded 30-year-old woman with partial trisomy of chromosome 9 (46, XX-6, +der(6)t(6,9)pat) who has had epilepsy since age 11 months. She had been treated with various combinations of drugs. After 1 year of treatment with valproate (VPA) and ethosuximide (ESM), the patient developed arthralgias, muscle weakness, fatigue, and fever. Laboratory examination showed increased sedimentation rate, hypergammaglobulinemia, and high titers of antinuclear antibodies (ANA). The possibility of VPA-induced systemic lupus erythematosus (SLE) was considered. This diagnosis was supported by detection of antihistone antibodies and the HLA-DR4 antigen. VPA dosage was tapered and discontinued, with accompanying resolution of clinical, immunological and hematological signs of SLE 6 weeks after VPA discontinuation. This is the fourth reported case of VPA-induced SLE.

Adult↗
PubMed1996

Sleep in healthy elderly subjects: a 24-hour ambulatory polysomnographic study.

It is still debated whether the deterioration of the sleep pattern, frequently reported by elderly subjects, is due only to aging per se. Other factors associated with aging or modifications of biological rhythms could also be involved. Elderly subjects frequently complain of daytime sleepiness, but it is not clear whether this actually represents a return to a polyphasic structure of sleep, or only a consequence of a disturbed night sleep. Ten healthy, independent and active elderly subjects (age > 72 years) were elevated by means of 24-hour ambulatory polysomnography. Findings of nocturnal sleep were compared with sleep of the same group in the 24-hour period and with sleep of young healthy controls. We observed a fragmentation of nocturnal sleep, but a fairly good representation of stages and a preservation of cyclicity. Except for three cases, with early or late times of sleep onset and wake-up, sleep disruption did not seem to be related to modification of circadian rhythms. Only three subjects presented undesired daytime naps, whereas the others either did not show daytime sleep at all, or were used to having their siesta after lunch since their young adulthood. In normal aging, daytime sleep does not constitute a social problem. Ambulatory polysomnography is a valid alternative to laboratory recordings in the identification of daytime sleep.

Aged↗
PubMed1996

Clinical case report: multiple idiosyncratic adverse effects of antiepileptic drugs in trisomy 9p.

We report the case of a mentally retarded 30 y.o. patient with partial trisomy of chromosome 9, affected by epilepsy. Following treatment with antiepileptic drugs (AEDs), the patient developed several rare complications: after beginning therapy with phenytoin, the patient developed pseudolymphoma; after monotherapy with carbamazepine (CBZ), the patient thereafter developed myoclonic jerks of upper and lower limbs upon awakening; after one year of treatment with valproate (VPA) the patient developed clinical and immuno-haematological signs of SLE. Gradual withdrawal of AED, obtained clinical remission. The possibility that the chromosomal abnormality of the patient was responsible for the three rare complications observed during AED therapy is considered.

Adult↗
PubMed1995

Jumping translocations in leukemia.

Jumping translocations are an unusual phenomenon and have been rarely reported in leukemia. We report three patients whose leukemic cells had multiple related clones resulting from unbalanced jumping translocations of 1q and 7q to chromosomes 1, 8, 15, 21 and 22. The chromosome findings, together with limited published reports, suggest that jumping translocations are new non-random rearrangements and may represent poor prognostic biological markers. Although their origin is unknown, circumstantial evidence suggests that telomeric ends of receptor chromosomes may play a role in stabilizing jumping translocations in dividing malignant cells.

Anemia, Refractory, with Excess of Blasts↗
PubMed1994

Myelodysplastic syndrome transforming to acute promyelocytic-like leukemia with trisomy and rearrangement of chromosome 11.

Variants of the t(15;17)(q22;q12-q21) chromosomal rearrangement associated with acute promyelocytic leukemia (APL) have been previously described and they frequently involve either chromosome 15 and/or 17. Previously we reported a rare variant t(11;17). We now describe two patients with myelodysplastic syndrome (MDS) that transformed to APL-like leukemia. Both had trisomy 11 at the diagnosis of APL-like leukemia. Following treatment for APL, patient 1 reverted to MDS and showed a normal karyotype. When leukemia recurred, his bone marrow karyotype was 47,XY,t(4;11), +11,der(22)t(1;22). Both patients were treated with all-trans retinoic acid (ATRA) for APL for 5 weeks, but failed to respond. The karyotype of patient 1 after ATRA treatment was 46,XY,t(4;11); the trisomy 11 had been lost and the bone marrow was replaced with immature myeloblasts without promyelocytes. In patient 2, the karyotype remained the same as at diagnosis, i.e., 47,X,-Y,dir ins(4;7),del(5), +6,del(7), +8, + 11,-18. Molecular analysis by reverse transcriptase PCR analysis showed the presence of wild type retinoic acid receptor alpha (RARA) and the absence of the PML-RARA chimeric gene associated with t(15;17). Additional analysis of PLZF, a new zinc finger gene associated with t(11;17), also showed the absence of this hybrid gene. These data support the concept that APL is a heterogeneous disorder and that variants with chromosome 11 rearrangement exist that do not respond to ATRA.

Adult↗
PubMed1993

Clonal chromosomal abnormalities in Fanconi's anaemia: what do they really mean?

Patients with Fanconi's anaemia (FA) have aplastic anaemia, leukaemia, myelodysplasia and tumours. Since leukaemia has a very poor prognosis, it is desirable to identify high-risk patients. To determine the significance of clonal marrow chromosomal abnormalities we began a prospective study in 17 patients: five were normal, eight aplastic, and four myelodysplastic. Three of 11 with adequate cytogenetics had transient abnormal clones. None had leukaemia at 3-24 months. Changing cytogenetic patterns may not be related to leukaemic evolution in patients with a DNA repair defect.

Chromosome Aberrations↗
PubMed1992

del(5q) in acute lymphoblastic leukemia with biphenotypic and early progenitor phenotype.

We report three patients with acute lymphoblastic leukemia with biphenotypic and early progenitor phenotype who had del(5q). In the first patient, the del(5q) was the sole abnormality; in the second patient, the del(5q) was interpreted as subclonal evolutionary event; while in the third patient, the rearrangement was transiently present 7 months following the diagnosis of Ph-positive ALL, while the patient was in clinical remission. Review of the literature indicates that del(5q) is rare in ALL. In contrast to its presence in AML, del(5q) in ALL is not an adverse prognostic indicator, and it appears to be more frequent in children.

Adolescent↗
PubMed1992

Chromosome 21 rearrangement in acute biphenotypic leukemia.

A patient with myelodysplastic syndrome (MDS) and a 47,XY,+21 karyotype at diagnosis, was documented to have a clonal chromosome 21 rearrangement, i(21q), four months before transformation to acute biphenotypic leukemia. For 4 months after transformation, isochromosome 21 persisted while the patient was receiving treatment with zidovudine. Vitamin D3 was added to zidovudine for an additional month, during which time the trisomy 21 clone reappeared as the predominant cell population. The unique aspects of this patient are the atypical evolution of chromosome 21, the transformation to biphenotypic leukemia, and the occurrence of i(21q) associated with biphenotypic leukemia evolving from an MDS.

Anemia, Refractory, with Excess of Blasts↗
PubMed1990

del(2)(p23): a new recurrent abnormality in acute myeloid leukemia.

In two patients with acute myeloid leukemia, we found a new chromosome abnormality: del(2)(p23) which was detected in 13% and 50% of studied bone marrow cells, respectively. In patient one, del(2p) was an additional abnormality to t(8;21), while patient two had del(2p) as the sole abnormality. Based on our observation and a review of the literature we propose that del(2p) is a new recurrent chromosome abnormality for acute myeloid leukemia.

Adult↗