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O Daniele

Publications and source records attributed to O Daniele.

At least 19 recordsLinked to original sources
PubMed2006

Auditory event-related potentials in subcortical vascular cognitive impairment and in Alzheimer's disease.

BACKGROUND: Few studies exist on ERPs and patients with subcortical vascular cognitive impairment (SVCI). This latter is a quite homogeneous subtype of vascular dementia whose cognitive profile is quite different from that of Alzheimer disease (AD). AIMS: The present study aims at comparing the ERPs profile both in patients with SVCI and in patients with AD. SUBJECTS AND METHODS: ERPs and psychometric tests were collected from 39 healthy elderly controls, 51 patients with SVCI and 43 patients with AD. Subjects mentally count high pitched target tones that were randomly intermixed with low pitched frequent tones. We measured ERPs latencies (N1, P2, N2 and P3), and interpeak latencies (N1-P3, N1-P2, N1-N2). RESULTS: Grand averaged potentials in SVCI showed a significant increase of P3 latency. AD patients showed a prolongation of N1, P2, N2, P3 latencies. As far as interpeak latencies are concerned, SVCI patients showed a significant prolongation of N1-P3, AD patients had a significant increase of N1-N2, and N1-P3 intervals. When all patients were considered as a single group, correlation of neuropsychological tests scores showed a significant negative relationship between P300 latency and, respectively, Mini Mental Status Examination, auditive and visual span forward. In both groups, ERPs latency sensitivity, was low, whilst specificity values were quite high. CONCLUSIONS: Our finding suggest that these two dementing diseases have different electrophysiologic features that may be related to their specific underlying pathogenetic mechanism; in particular, we hypothesise that, differently from AD, P300 latency prolongation characterizes the early stage of SVCI. So, this ERPs approach could be helpful to detect early alterations of the attentional/working-memory functions in patients with subcortical ischaemic vascular disease.

Aged↗
PubMed2005

A novel mutation of the extracellular matrix protein 1 gene (ECM1) in a patient with lipoid proteinosis (Urbach-Wiethe disease) from Sicily.

BACKGROUND: Lipoid proteinosis (LP), also known as Urbach-Wiethe disease, is a rare autosomal recessive disorder characterized by a hoarse voice, warty skin infiltration and scarring. Mutations within the extracellular matrix protein 1 (ECM1) gene cause LP. OBJECTIVES: We report the molecular analysis of the ECM1 gene in a Sicilian patient with LP in order to extend the mutation spectrum of this genodermatosis. METHODS: We studied a 32-year-old female born from consanguineous parents who was diagnosed at the age of 11 years as having LP. She has a clinical phenotype corresponding to Urbach-Wiethe disease characterized by papules/nodules, indurated plaques and sometimes ulcerated lesions primarily involving the skin and mucous membranes, and extracutaneous features such as epilepsy, hoarseness of the voice and neuropsychiatric abnormalities. Samples of clinically affected skin obtained by biopsies were analysed after staining with haematoxylin and eosin, periodic acid-Schiff (PAS), and PAS-diastase. The whole ECM1 gene was analysed by direct sequencing. RESULTS: We identified a homozygous nonsense mutation in exon 6 of the ECM1 gene, C589T (Q197Ter). CONCLUSIONS: Over 60% of mutations occur in exons 6 and 7. Exon 7 is alternatively spliced and frameshift mutations in exon 7 lead to ablation of the ECM1a transcript, but not the shorter ECM1b transcript that normally lacks this exon. Homozygous nonsense or frameshift mutations in exon 6 are predicted to affect both full-length ECM1a and ECM1b transcripts, whereas ECM1b should be unaffected for similar types of mutation in exon 7. It has been suggested that individuals with mutations in exon 7 have a slightly milder phenotype than those with exon 6 mutations. This is the first report with respect to a novel mutation of the ECM1 gene responsible for recessive LP in Sicily.

Adult↗
PubMed2003

1 Hz repetitive transcranial magnetic stimulation of the unaffected hemisphere ameliorates contralesional visuospatial neglect in humans.

The aim of the study was to investigate whether low-frequency repetitive transcranial magnetic stimulation (rTMS) over the unaffected hemisphere can ameliorate visuospatial neglect. We treated three right brain damaged patients with left neglect. 900 pulses (1 Hz frequency) were given over left posterior parietal cortex every other day for 2 weeks. Patients performed a computerized task requiring length judgement of prebisected lines, tachistoscopically presented for 150 ms. With respect to rTMS the task was given 15 days before, at the beginning, at the end and 15 days after. At these times patients performed also line bisection and clock drawing tasks. rTMS induced a significant improvement of visuo-spatial performance that remained quite unchanged 15 days after. Patients performance at Time 3 and 4 improved also as concerns line bisection and clock drawing tasks.

Aged↗
PubMed2003

Ifosfamide in thymic neoplasms.

The role of systemic chemotherapy and optimal regimen in thymic neoplasms remains uncertain, because they are rare mediastinal tumors, frequently encapsulated or noninvasive at the time of presentation and surgical excision is adequate treatment. Chemotherapy is an essential treatment modality in advanced or recurrent disease and an increased number of publications on this aspect of management has appeared in the last 10 years. Both single-agent and combination chemotherapy have demonstrated activity in the adjuvant and neoadjuvant settings. There are little data concerning the activity of ifosfamide in thymoma and further investigation of the role of this drug in combination chemotherapy regimens, particularly as an alternative to the inclusion of cyclophosphamide, is warranted.

Antineoplastic Agents, Alkylating↗
PubMed2001

Auditory event-related potentials (P300) in epileptic patients.

Auditory event-related potentials (AERPs) were recorded during an auditory oddball paradigm in 108 epileptics and in 32 healthy controls. P300 latency varied in relationship with age only in controls. Symptomatic epileptics had significantly prolonged P300 mean latency compared to those without detectable brain lesion(s) on MR scan. Moreover, these latter patients were compared on the basis of epilepsy duration, type of seizure, seizure frequency and antiepileptic treatment; the application of a multiple regression model showed a significant relationship between P300 latency prolongation and epilepsy duration, seizure frequency and polytherapy.

Adolescent↗
PubMed2001

Gabapentin in the treatment of hemifacial spasm.

OBJECTIVES: To evaluate the efficacy of gabapentin in the treatment of hemifacial spasm. MATERIAL AND METHODS: Twenty-three patients with hemifacial spasm not suitable for surgery or therapy with botulinum toxin were treated with gabapentin. The main efficacy parameter was the percentage of spasm reduction. RESULTS: A clinically significant reduction of spasms was obtained by 16 patients. CONCLUSION: Gabapentin was effective and safe in reducing hemifacial spasm in 16 out 23 (69.6%) patients.

Acetates↗
PubMed2000

A multimodality therapeutic approach in anaplastic thyroid carcinoma: study on 39 patients.

The aim of this study was to investigate the role of multimodality treatment in patients with anaplastic thyroid carcinoma. From 1992 to 1999, 39 consecutive patients with a histologically or cytologically proven anaplastic thyroid carcinoma were referred to the Thyroid Center of Padua General Hospital. There were 28 females and 11 males with a median age of 69 years (range 39-88 years). About one-third of patients had a history of preceeding nodular goiter. Two patients had areas of differentiated thyroid carcinoma at histological examination. Local disease was present in 26 patients while distant metastases, mainly to the lung, were present in 22 at diagnosis or quickly developed during the observation period in all the others except one. Thirty-two patients were previously untreated: 9 of them were in good general condition, 1 had limited lung metastases, and the tumor mass was considered resectable by the surgeon. These 9 patients were treated with cisplatin once a week and radiotherapy (RT) 36Gy in 18 fractions over three weeks, followed by total thyroidectomy (TT) and by further chemotherapy (CHT) with adriamycin and bleomycin in 4 patients. Seven patients, 3 with lung metastases at diagnosis, had undergone TT, followed by RT in 5, in another hospital and were subsequently referred to our center due to the presence of distant metastases. Therefore, a total of 16 patients (Group 1) was treated with TT, RT and CHT in various order. Nine patients with distant metastases at diagnosis (Group 2) received CHT; one of them had a disappearance of lung metastases and was then treated by TT and further CHT. Group 3 consisted of 14 elderly patients in poor general conditions; 4 of these received local RT, while the remaining did not receive any treatment. Four complete responses were seen in patients from Group 1, and 1 from Group 2. One patient without distant metastases at diagnosis is alive and free of disease 6 months after TT and adjuvant CHT, and 12 months after diagnosis. Three had long-term survival (14, 24, 27 months) with a disease-free interval of 6-8-10 months. The patient from Group 2 who was treated in a second time by TT is alive without disease after 60 months. Median survival rate was 11 months for Group 1, 5.7 months for Group 2 and 4 months for Group 3. In some patients multimodality treatment (TT, RT and CHT) is associated with increased survival. Nine out of 16 patients, who underwent surgery and complementary treatment, had no local progression. In all but one distant metastases developed, mainly in the lung, during or after post-surgical CHT. The best results were obtained in younger patients with less advanced disease. Early diagnosis is mandatory. Only a few patients responded to CHT, confirming that anaplastic thyroid carcinoma is often resistant to anticancer drugs. Our experience with combination modalities suggests that aggressive and appropriate combinations of RT, TT and CHT may provide some benefit in patients with anaplastic thyroid carcinoma. Preoperative CHT and RT may enhance surgical resectability of the primary tumor.

Adult↗
PubMed1999

Multievoked potentials in type I diabetic patients: one year follow-up study.

A neurophysiological (SEP, VEP) follow-up study was carried out in 30 diabetic patients with type I diabetes mellitus of ten or more years duration. This in order to investigate whether one year of improved glucoregulation may influence the progression of central damage. In our series, patients showed a significant decrement of HbA1C levels (p < 0.05) in the one-year follow-up. In the same period the frequency of SEP and VEP abnormalities varied from 10/30 (33%) to 16/30 (53%) and from 8/30 (26%) to 5/30 (16%) respectively. This finding would suggest that prevailing glycaemic control would be a major determinant for the outcome of VEP measurements. SEP alterations, in contrast, tend to progress in a 12 months period despite a considerable improvement in glycaemic control. However, by dividing patients in two groups according mean one year HbA1C less than 8% and more than 8%, the latter group only showed a significant increasing of absolute latencies of each median and tibial SEP components. Our results suggest that VEP abnormalities are still reversible in diabetic patients with improved metabolic control. The acquired abnormalities of somatosensory pathways persist longer, but a strict glycaemic control may influence and retard the progression of central conduction involvement.

Adolescent↗
PubMed1998

Neurophysiological and radiological findings in myotonic dystrophy patients.

Somatosensory evoked potentials (SEPs) and brainstem auditory evoked potentials (BAEPs) were recorded in 10 patients with myotonic dystrophy and in 20 sex and age-matched healthy controls. In all patients a brain MRI examination was also performed. In our results, the significantly longer absolute peak latencies of the SEPs and the abnormal increasing of the later components of the BAEPs suggest an involvement of the afferent sensory and central auditory pathways. Brain MRI showed white matter hyperintense lesions (WMHL) in eight patients (80%). No correlations were found between individual abnormal electrophysiological parameters or severity of WMHL and age, age at onset, disease duration or muscular impairment. The total number (SEP + BAEP) of electrophysiological abnormalities significantly correlated with muscular impairment (p < 0.05) and MRI changes (p < 0.005), suggesting a strict pathogenetic linkage between muscular and nervous system alterations in this disease.

Journal Article↗
PubMed1997

Evoked potential study in facio-scapulo-humeral muscular dystrophy.

Nerve conduction velocities (NCVs), somatosensory (SEPs) and auditory evoked potentials (BAEPs) were recorded in 9 patients with facio-scapulo-humeral dystrophy (FSHD) and in 20 age-matched controls. In FSHD patients a significant increase of the nerve distal sensory latencies and of the absolute SEP latencies revealed a subclinical involvement of the afferent sensory pathways, as well as the abnormal slowing of the later components of the BAEPs, pointed to a central auditory dysfunction. Moreover all patients underwent brain MRI that showed the presence of white matter hyperintense lesions in 4 of them (44%). No correlations were found between individual or total number of SEP and BAEP abnormal electrophysiological parameters and severity of WMHL, age, age at onset, duration of the disease or muscular impairment. These findings make the interpretation and pathophysiology of the nervous damage in FSHD rather uncertain. More studies are required to better define the aspects of neurogenic involvement in this type of muscular dystrophy.

Adult↗
PubMed1995

Adrenocortical carcinoma: epidemiology and natural history.

Information about epidemiology, natural history and prognostic factors of adrenocortical carcinoma in Italy is extremely scarce. We report here 35 patients of adult age who were referred to our institution in the last two decades. Nine patients had non functioning, and 26 had functioning tumors. In non-functional tumors initial symptoms were abdominal pain in 90% of cases, fever, weakness, malaise, weight loss in 30%. Only one patient was asymptomatic. Of patients with functioning tumors, 18 presented with Cushing's syndrome, 6 with Cushing's syndrome and virilization, 1 with Cushing's syndrome and feminilization and 1 with hyperaldosteronism. Twenty-two of all cases (63%) had metastases at diagnosis; most frequent sites were lung, liver and distant lymph nodes. The results of tumor staging, according to MacFarlane system, were: stage I, 1 patient (3%); stage II, 10 patients (28%); stage III-IV, 24 patients (69%). Twenty-six out of 35 patients underwent removal of the mass with complete adrenalectomy. Twelve patients received mitotane alone; 8 mitotane and chemotherapy; 5 chemotherapy alone; 2 radiotherapy associated with mitotane or chemotherapy; 1 anthalgic radiotherapy. Survival time ranged from 1 to 108 months. One-year survival rate was 60%, and 5-year survival rate was 10%. Lower survival rate compared with that reported from other countries is probably related to the referring of patients at very advanced stages of disease. Early recognition and referral, in addition to optimization of therapeutic protocols by multicenter studies, may improve prognostic aspects.

Actuarial Analysis↗
PubMed1994

[Undifferentiated carcinoma of the thyroid gland].

Anaplastic carcinoma of the thyroid is a tumour of advanced age, with a female/male ratio of 2/1. Its incidence is of 1-2 cases/million/year. The tumour is one of the most aggressive neoplasms affecting humans. It spreads very rapidly to the regional lymph nodes and causes distant metastases, in particular in the lungs and bone. Surgery, external radiation or chemotherapy are usually ineffective when used alone. Better results are obtained by combinations of these modalities, in particular by a combination of radiotherapy and chemotherapy followed by surgery. In our Centre we have, since 1991, adopted a multimodal treatment based on radiotherapy preceded by Cisplatin administration, followed by surgery and then by adjuvant chemotherapy with Adriamycin and Bleomycin. The initial results on a limited number of cases seem encouraging.

Adult↗
PubMed1993

Bilateral occipital calcification, epilepsy and coeliac disease: clinical and neuroimaging features of a new syndrome.

Twenty patients affected by bilateral occipital cortical-subcortical calcification (BOC) are described, 19 (95%) had epilepsy. In 8 of 16 cases studied, intestinal biopsy revealed coeliac disease. Fourteen patients had occipital partial epilepsy with a relatively benign outcome, while 4 patients were affected by a severe form of epilepsy, with very frequent, drug-resistant, generalised and partial seizures with mental deterioration. One patient had a single episode of convulsive status epilepticus at four months of age. The neurological examination was normal in all patients. CT showed flocculo-nodular, cortico-subcortical BOC, without enhancement and without lobar or hemispheric atrophy. MRI was normal. The clinical and neuroimaging features of these patients are different therefore from those with the Sturge-Weber Syndrome. The study confirms a high prevalence of coliac disease in patients with BOC, but the relationship between these two pathologies still needs to be clarified.

Adolescent↗
PubMed1993

Chemotherapy and operation for invasive thymoma.

Sixteen patients with invasive thymoma (stage III and stage IVA) were treated with chemotherapy and then operation. All tumors were considered nonresectable after first staging, and patients were treated with the following chemotherapy in 4-day courses, administered intravenously: cisplatin (50 mg/m2) and doxorubicin (40 mg/m2) on day 1, vincristine (0.6 mg/m2) on day 3, and cyclophosphamide (700 mg/m2) on day 4. The courses were repeated every 3 weeks, and toxic effects were well tolerated. Seven patients (43%) had a complete remission, and nine patients (57%) had a partial remission, with an overall complete remission plus partial remission rate of 100%. After chemotherapy all patients underwent operation. We performed 12 sternotomies and four posterolateral thoracotomies. At operation 11 patients had radical resection and five had partial resection. We administered radiotherapy in 11 patients who had histologically demonstrated tumor after operation. In five patients, the specimen showed only fibrosis; these patients received three cycles of chemotherapy but not radiotherapy. Median survival was 66 months with a 3-year survival of 70%. We believe that neoadjuvant chemotherapy with surgical intervention is justified for advanced invasive thymoma; a longer follow-up and a larger number of patients will determine the impact of this treatment on long-term survival.

Adult↗
PubMed1992

Deflazacort and fluoximesterone in advanced, pretreated breast cancer.

A very simple, low dose, orally administered regime (10 to 15 mg of fluoximesterone + 6 mg of deflazacort daily for periods of 1 to several months) resulting in mild-acceptable toxicity (essentially some weight gain) determined subjective improvement in 2/3 of 34 evaluable patients (out of 36 treated) and an objective measurable tumor reduction in 1/3, although most patients had been previously treated with chemotherapy and hormone treatment and proved primarily or secondarily refractory. The receptor status at the beginning of fluoximesterone+deflazacort treatment was not known, except in one negative-receptor patient, who responded to the combination after becoming resistant to tamoxifen (see photo). In some patients the condition of hormone refractoriness would suggest a no-treatment policy, but a trial with this regime is always convenient as it may improve both duration and quality of life.

Adult↗
PubMed1991

Chemotherapy for invasive thymoma. A 13-year experience.

From 1977 to 1990, 37 patients with Stage III or IV invasive thymoma (20 men and 17 women; median age, 40 years of age) were referred for chemotherapy to the Padova Medical Oncology Department. All patients initially received the same regimen (50 mg/m2 of cisplatin and 40 mg/m2 of doxorubicin intravenously (IV) on day 1, 0.6 mg/m2 of vincristine IV on day 3, and 700 mg/m2 of cyclophosphamide IV on day 4 [ADOC]), recycling at monthly intervals. No life-threatening side effects were noted. The overall clinical response rate (complete response plus partial response) was 91.8%, with 43% complete remissions. Median duration of response and survival were 12 months (range, 2 to 96+ months) and 15 months (range, 5 to 96+ months), respectively. Seven of the 16 complete remissions were pathologically confirmed at subsequent thoracotomy. Other chemotherapy combinations and radiation therapy have been applied as second-line treatment, achieving only minimal responses. In the opinion of the authors, such chemotherapy deserves evaluation for adjuvant and neo-adjuvant treatment of invasive (and/or inoperable) thymoma due to the high complete response rate and overall response rate.

Adult↗