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C Scaglione

Publications and source records attributed to C Scaglione.

At least 19 recordsLinked to original sources
PubMed2006

Parkinsonism in Caplan's syndrome.

Parkinsonism is a rare feature of immunological diseases. We describe a 67-year-old man with Caplan's syndrome (CS) and parkinsonism. CS is an immunologic disease characterised by the presence of rheumatoid arthritis associated with a specific form of pneumoconiosis. Parkinsonism as a manifestation of involvement of the central nervous system in this condition has never been reported. Following immunosuppressive treatment both the CS and the parkinsonian signs and symptoms showed a marked improvement. The role of immune mechanisms in these parkinsonian syndromes is discussed.

Aged↗
PubMed2005

REM sleep behaviour disorder in Parkinson's disease: a questionnaire-based study.

The aim of the study was to determine the clinical frequency and features of REM sleep behaviour disorder (RBD) in a large population of Parkinson's disease (PD) patients using defined diagnostic criteria both for RBD and PD. Six trained neurologists used a semistructured questionnaire based on ICSD-R diagnostic criteria for RBD to evaluate 200 PD patients and their caregivers. Interobserver reliability for the diagnosis of RBD was "substantial" (Kappa 0.65). Five patients were excluded from the study because of an MMSE lower than 25. The demographic and PD clinical features were compared in the clinically defined RBD group and in those without RBD (NRBD). Then the RBD features during the last year were analysed in the affected group. Out of 195 patients, 66 fulfilled the ICSD-R criteria for RBD; 62 patients reported RBD during the last year (frequency 31.8%). RBD features: two or more episodes per week in 35.5%; upper limb movements in 87%; lower limb movements in 79%; vocalisations during events in 85%. RBD onset was before PD in 27% of patients; 69% of the RBD group had injured themselves or their caregivers during sleep. According to multivariate analysis, RBD was associated with male gender, age and PD duration. Brief training and the use of a semistructured questionnaire may help the neurologist in dealing with sleep disturbances in PD patients. The search for RBD symptoms in PD is highly recommended, especially in patients with a long disease duration, the risk of sleep-related injuries being high.

Aged↗
PubMed2004

Multiparametric MRI in a patient with adult-onset leukoencephalopathy with vanishing white matter.

This is a multiparametric MR study of the first reported patient with adult-onset genetically confirmed vanishing white matter (VWM) disease. It shows that, despite the presence of a severe and diffuse damage of the brain WM, brain gray matter, and cervical cord tissue, the cortical adaptive capacities were relatively preserved. Interpatient variability of brain plasticity may contribute to the known phenotypic variation of patients with VWM disease.

Basal Ganglia↗
PubMed2003

Levodopa pharmacokinetics and dyskinesias: are there sex-related differences?

We examined the potential sex-related differences in levodopa pharmacokinetics and their relation with the presence of dyskinesias in a group of 115 patients (67 men, 49 women) with Parkinson's disease. The patients were given a standard oral dose of levodopa plus benserazide (100/25 mg). The area under the levodopa plasma concentration time curve, corrected for the levodopa test dose (in mg/kg body weight), (AUC(w)) was significantly higher in women than in men, with a reduced oral clearance. No difference in the proportion of men and women experiencing dyskinesias was observed.

Aged↗
PubMed2003

[Topotecan for pediatric patients with resistant and recurrent solid tumors].

BACKGROUND: Topotecan is a cytotoxic drug isolated from the Camptotheca acuminata tree (from China). It is able to block the enzyme DNA topoisomerase I and has recently been used in the treatment of pediatric cancer. OBJECTIVES: To evaluate our preliminary experience with topotecan in the second line treatment of refractory solid tumors in the pediatric age group. PATIENTS AND MEHTODS: We performed a retrospective study of 10 patients with various recurrent solid tumors resistant to first line treatment who were treated with topotecan alone or in association with other chemotherapeutic agents. RESULTS: Ten patients with recurrent solid tumors or tumors that were refractory to conventional treatment (two neuroblastomas, three rhabdomyosarcoma, two PNET/Ewing's sarcoma, one anaplastic astrocytoma, one soft tissue sarcoma and one synovial sarcoma) were included. Five patients showed favorable responses (two had complete responses, two had partial responses and one had stable disease). Five patients showed no response. All patients showed grade II-IV hematological toxicity. CONCLUSIONS: In our experience, topotecan is beneficial in some refractory or recurrent solid tumors, especially neuroblastomas and soft tissue sarcomas. Myelosuppression was tolerable with the use of granulocyte colony-stimulating factors. Patients with a complete response to topotecan could benefit from high-dose chemotherapy and autologous stem cell rescue therapy.

Adolescent↗
PubMed2003

Atypical familial motor neuropathy in patients with mutant TTR Ile68Leu.

Two sisters from an Italian family shared progressive motor symptoms, preceding the onset of sensory and autonomic disturbances. The familial occurrence of axonal and slowly progressive polyneuropathy led us to consider these patients as candidates for TTR molecular analysis. We found a missense mutation causing Ile68Leu TTR substitution in both. The aims of this work are to report the possibility of a motor onset of amyloid polyneuropathy and to suggest the search for TTR mutations in familial cases of axonal polyneuropathy. Second, to stress the possible occurrence of amyloid within the spinal canal as the potential pathogenesis and responsible for motor presentation.

Adult↗
PubMed2001

No evidence of association between CAG expansions and essential tremor in a large cohort of Italian patients.

Essential tremor (ET) is one of the most common movement disorders. However the pathogenesis is as yet unknown, although a genetic cause has long been recognised. Clinical and molecular evidences suggested that the ET gene might contain a CAG expanded region. In a cohort of Italian ET patients Repeat Expansion Detection (RED) approach did not demonstrate large CAG expansions. We extended the study towards specific targets: the channel proteins hSKCa3 and CACNL1A4. Direct assessment of CAG stretches within these two genes did not demonstrate any CAG expansion in affected subjects. Also a case-control analysis failed to reveal any evidence of association, thus excluding these genes as a cause of ET.

Aged↗
PubMed2001

Clinical and genetic study of essential tremor in the Italian population.

Essential tremor (ET) is one of the most common movement disorders. The pathogenesis is as yet unknown, although a genetic cause has long been recognised. Clinical and molecular evidence suggested that the ET gene contains a CAG expanded region. We examined a cohort of 240 Italian ET patients, classified as familial (193 cases) and sporadic (47 cases). The clinical manifestations of ET patients confirmed that the disorder is characterised by a large phenotypic variability. Repeat expansion detection (RED) approach did not demonstrate large CAG expansions. Six families were genotyped with 12 microsatellites markers of 2p and 3q regions and analysed according to parametrical methods. Lod scores values obtained in these families excluded the association of ET with 2p and 3q loci. Our findings confirm the presence of genetic heterogeneity and suggest that at least a third locus is involved in the pathogenesis of familial essential tremor.

Adolescent↗
PubMed2001

Symptomatic unruptured capillary telangiectasia of the brain stem: report of three cases and review of the literature.

Three young patients with transient or intermittent focal neurological signs suggesting brain stem involvement are described, in whom high field MRI showed focal areas of hyperintensity in T2 weighted spin echo images, hypointensity in T2* weighted gradient echo images, and enhancement in postcontrast T1 weighted images consistent with unruptured capillary telangiectasia of the brain stem. The first patient was a 28 year old woman who complained of recurrent left ear tinnitus, exacerbated during the menstrual period; MRI demonstrated that the vascular anomaly involved the left acoustic pathway. The second patient was a 30 year old woman who had three episodes of paroxysmal left lip movement 4 weeks after child delivery; MRI showed capillary telangiectasia in the right corticonuclear pathway. The third patient, a 36 year old man, had a transient right Bell's palsy; MRI disclosed two circumscribed areas consistent with capillary telangiectasia in the left corticospinal tract and medial longitudinal fasciculus. Steroid receptors in the telangiectatic vessels walls might account for the recurrent and transient course seen in our two female patients. Awareness of the MRI features of capillary telangiectasia may help in defining the real incidence, clinical correlation, and the risk of haemorrhagic complications of these vascular malformations.

Adult↗
PubMed2000

Deficit of brain and skeletal muscle bioenergetics in progressive supranuclear palsy shown in vivo by phosphorus magnetic resonance spectroscopy.

Brain and muscle energy metabolism was assessed in vivo in five patients with progressive supranuclear palsy (PSP) using phosphorous magnetic resonance spectroscopy (31P MRS). 31P MRS disclosed a reduced phosphocreatine (PCr) and an increased calculated free adenosine diphosphate (ADP) in the occipital lobes of all patients. In our patients with PSP, inorganic phosphate (Pi) was significantly increased and Mg2+ was reduced. In the gastrocnemius muscle, Pi at rest was increased in four patients, and the three patients who were able to perform an incremental exercise showed a rate of PCr postexercise recovery slower than control subjects. Our findings show that multisystemic deficit of energy metabolism occurs in PSP and suggest that it may play a role in the pathogenesis of this disorder.

Adenosine Diphosphate↗
PubMed1999

Neurophysiological evaluation of areflexia in Holmes-Adie syndrome.

PURPOSE: To evaluate ankle areflexia in Holmes-Adie syndrome (HAS). PATIENTS AND METHODS: Hoffmann (H) and Tendon (T) soleus reflexes, tonic vibration reflex (TVR), and polysynaptic extension reflex of soleus muscle (PERS) were evaluated in eight patients with idiopathic HAS. Motor (MNCV) and sensory (SNCV) nerve conduction velocities, compound motor-action potential (CMAP), and sensory action potential (SAP) were also determined in upper and lower limbs. RESULTS: Soleus T reflex was obtained in one out of eight patients, and H-reflex was found in none of the patients. TVR was recorded in four out of eight patients, and PERS in all of the patients. MNCV, SNCV, CMAP and SAP showed normal values in all patients. In six out of the eight patients a late response following the tibial nerve stimulation showed constant latency, amplitude and morphology, with no recovery cycle or vibration inhibition. CONCLUSION: In this study, the neurophysiological spinal reflex circuitry evaluations support the view that HAS ankles areflexia is due to a selective impairement of monosynaptic connections of Ia afferents. A normal nuclear excitability is suggested by polysynaptic activation of the soleus motor nucleus.

Adie Syndrome↗
PubMed1996

Non-tunneled catheters in children undergoing bone marrow transplantation.

We analyzed the use of non-tunneled (polyurethane double lumen) central venous catheters (CVCs) in 62 children undergoing bone marrow transplantation. The catheters were inserted in the Critical Care Unit without surgery or general anesthesia. The complications were pneumothorax in two patients and hemopneumothorax in two other patients (6.06%), entry site infection in six patients (9.6%), catheter-related infection in eight patients (12.9%) and catheter-related sepsis in nine patients (14.5%). The catheters were removed upon completion of therapy in 46 patients (74.1%), death in seven patients (11.3%) and in nine cases (14.5%) for infection. Despite the complications specific to non-tunneled catheter insertion, we believe this is indicated for patients during conditioning, transplantation and immediate post-transplantation periods.

Adolescent↗
PubMed1992

[Non-Hodgkin's lymphoma associated with human immunodeficiency virus infection in children].

A 3-year-old boy with infection by the human immunodeficiency virus (HIV) developed stage IV Burkitt's lymphoma. Complete remission was achieved with the BFM-86 protocol. One month after finishing treatment, and still in complete remission, fever appeared and seropositivity to HIV was found. The child was diagnosed of AIDS (P2-E1) and died 10 days later. Although the association of HIV infection and Burkitt's lymphoma is well known in adults, it is extremely rare in children. The routine HIV screening is suggested for children with non-Hodgkin's lymphoma.

Burkitt Lymphoma↗
PubMed1989

[Advances in the treatment of acute myeloid leukemia in children. Experience of the Argentinian Group of Acute Leukemia Treatment and the Latin American Group of Malignant Hemopathies Treatment 1967-1987].

Three hundred and seventy-one children below 16 years, with newly diagnosed acute myeloid leukaemia, were included in six consecutive GATLA/GLATHEM protocols, from November 1967 to December 1987. The study was divided in three periods: 1967 to 1975, 1976 to 1982, and 1983 to 1987. Three induction schedules were used during the first two periods, and different maintenance schemes alternating with monthly consolidations were explored; the value of immunotherapy with C. Parvum and androgen therapy with stanozolol was also tested. Protocol 3-AML-83, representing the third period, included a four-week induction phase with vincristine, adriamycin, cytosine-arabinoside, prednisone and 6-mercaptopurine, followed by a consolidation phase with cyclophosphamide, cytosine-arabinoside and 6-mercaptopurine for four weeks. Maintenance phase included daily, oral 6-mercaptopurine, and monthly cytosine-arabinoside, both during two years, and adriamycin every eighth week, for one year. Complete remission rates for the first two periods of therapy were 40% and 55%, whereas that of the last period was 74%. The overall results of the period 1967-1982, showed actuarial duration rates of complete remission, event-free survival and survival, at 60 months, between 2% and 6%, their median duration being of 9, 8 and 10 months respectively. No significant difference was observed between the first two periods or protocols. Protocol 3-AML-83, activated in March 1983, achieved actuarial rates of continuous complete remission, event-free survival, and survival of 51%, 37% and 39% respectively, at 48 months. The difference between the first two periods and the last one was highly significant (P less than 0.0001).(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMed1988

[Evaluation of damage in subjects exposed to nephrotoxic substances].

Nephritic functionality has been studies, making use of same nephritic enzymes dosage (NAG, AAP, alpha-glucosidase, lysozyme) in three groups of workers (varnishers, metallurgists, plastic manufacture employees) professionally exposed to nephritic damage, and in a control group made up of not professionally exposed to the same hazard subjects. The aim was to precociously detect possible nephritic damage, i.e. before classic nephritic functionality indexes were distorted. An increased enzymuria appeared in those subjects that were exposed to nephrotoxic hazard. Increased enzymuria have been found in only one subject of the control group. We deem it should be useful, to customarily measure out nephritic enzymes as trusted index of tabular damage, in hiring and pensionary control examinations.

Acetylglucosaminidase↗