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Biomedical subjects

C Morocutti

Publications and source records attributed to C Morocutti.

At least 19 recordsLinked to original sources
PubMed2001

Respiratory chain defects in hereditary spastic paraplegias.

Hereditary Spastic Paraplegias (HSPs) are heterogeneous neurodegenerative disorders whose etiopathogenesis is still unclear. The identification of pathogenic mutations in a gene (SPG7) encoding a mitochondrial metalloprotease suggested that oxidative phosphorylation (OXPHOS) alterations might underlie HSP in a subgroup of patients. We performed clinical, morphological, biochemical, and molecular genetic studies in six HSP patients and in six sporadic patients to investigate OXPHOS in muscle biopsies. Complicated and pure forms were included in our study. Morphological alterations of the type seen in OXPHOS-related disorders were found in three patients. Five patients showed an isolated defect of complex I activity. No mutations in the SPG7 gene were detected. Our results suggest that OXPHOS defects in HSP patients are more common than previously believed.

Adolescent↗
PubMed1999

Molecular and clinical examination of an Italian DEFECT11 family.

The DEFECT11 syndrome is a contiguous gene syndrome associated with deletions in the proximal part of chromosome 11p. In this study, we describe in an Italian family the co-existence of multiple exostoses (EXT) and enlarged parietal foramina (FPP), the two major symptoms of this syndrome, with abnormalities of the central nervous system. The latter may be a yet undescribed feature of DEFECT11 syndrome. FISH and molecular analysis allowed us to identify a small deletion on 11p11-p12, further refining the localisation of the FPP gene involved in the DEFECT11 syndrome.

Adult↗
PubMed1997

Autonomic involvement in multiple sclerosis: a pupillometric study.

To study pupillary autonomic function in multiple sclerosis (MS), we examined 36 subjects with low disability, preserved visual acuity and no recent history (2 years) of optic neuritis or actual visual complaints. Compared to controls, MS patients showed a greater dilatator reaction with darkness and, for the light reflex, a lower amplitude and contraction rate and a greater recovery of pupillary diameter 5 s after the stimulus. Within the MS group, no difference was found comparing patients with or without the following characteristics: nuclear magnetic resonance imaging evidence of midbrain lesions; increased visual evoked potential P100 latency; and a previous history of optic neuritis. No correlation was found between P100 latency, duration of disease and pupillometric parameters. Our results indicate that in MS patients there is autonomic dysfunction with a reduction of parasympathetic tone and a relative increase in sympathetic dilatator tone to the pupils. We suggest that pupillary abnormalities could be due to non-specific impairment of the central pathways subserving pupil functions.

Adaptation, Ocular↗
PubMed1997

Indobufen versus warfarin in the secondary prevention of major vascular events in nonrheumatic atrial fibrillation. SIFA (Studio Italiano Fibrillazione Atriale) Investigators.

BACKGROUND AND PURPOSE: The results of a large prospective randomized trial have shown the efficacy of oral anticoagulation in the secondary prevention of major vascular events in patients with nonrheumatic atrial fibrillation (NRAF); less well established is the role of antiplatelet agents. The present study compared the effects of indobufen, a reversible inhibitor of platelet cyclooxygenase, with those of warfarin in this setting. METHODS: A total of 916 patients with NRAF and a recent (< or = 15 days) cerebral ischemic episode were admitted to this multicenter, randomized study, during which they were treated with either indobufen (100 or 200 mg BID) or warfarin (to obtain an international normalized ratio of 2.0 to 3.5) for 12 months. The two groups (462 on indobufen and 454 on warfarin) were well balanced in terms of their main baseline characteristics. The primary outcome of the study was the combined incidence of nonfatal stroke (including intracerebral bleeding), pulmonary or systemic embolism, nonfatal myocardial infarction, and vascular death. RESULTS: At the end of follow-up, the incidence of primary outcome events was 10.6% in the indobufen group (95% confidence interval, 7.7% to 13.5%) and 9.0% in the warfarin group (95% confidence interval, 6.3% to 11.8%), with no statistically significant difference between treatments. The frequency of noncerebral major bleeding complications was low: only four cases (0.9%) of gastrointestinal bleeding were observed, all of them in the warfarin group. CONCLUSIONS: We conclude that, within the limitations of its design, this study may help the medical community in devising appropriate antithrombotic strategies for NRAF patients for whom oral anticoagulants are contraindicated or do not represent a feasible approach to treatment.

Adult↗
PubMed1996

Clinicopathological and genetic studies of two further Italian families with cerebral autosomal dominant arteriopathy.

We report on two Italian families with an early-adult onset autosomal dominant disorder, characterized by leukoencephalopathy, migraine, psychiatric disturbances, stroke and dementia. These findings fulfill the diagnostic criteria for cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) syndrome. Moreover, to confirm the CADASIL gene location to 19p12, we performed a linkage analysis with four microsatellite markers. The results of the genetic study gave positive but not significant lod scores, indicating only weak evidence of a linkage with 19p12. In one autopsy case, we found extensive ischemic changes due to the selective involvement of the small muscular arteries of the cerebral white matter. The lesions consisted of a thickening of the media with deposition of granular eosinophilic material. Ultrastructural examination of the arterial walls showed graded damage to smooth muscle cells, mostly of the longitudinal layer, and an abnormal proliferation of basal lamina components. Immunocytochemical analysis showed strong reactivity using antibodies to collagen IV and smooth myosin proteins. The results suggest a primary involvement of the smooth muscle cells of small cerebral arteries, with a secondary alteration of basal lamina components and elastic tissue.

Adult↗
PubMed1995

Crural amyotrophy associated with a parietal lesion: a case report.

The authors have observed a 33-year-old woman with a 3-year history of a clinical syndrome characterised by atrophy of the musculature of the left foot and leg with impaired motor function, associated with a paracentral cortical oligodendroglioma located in the right parietal region. Clinical, neuroradiological (MRI), electrophysiological (electromyography: EMG; motor evoked potential: MEP; median and tibial somatosensory evoked potential: m-SEP and t-SEP), and neuropsychological studies were performed every year for three years. Neurological examination showed an abnormal gait along with foot drop, pes cavus and pyramidal involvement. MEP and t-SEP recordings were abnormal on the left side, while EMG and neuropsychological tests gave normal results, which were unmodified over time. Our observations suggest that the crural amyotrophy observed in this case may be defined as of "parietal" or "central" origin, a clinical feature which more frequently affects the hand. A review of the literature is presented.

Adult↗
PubMed1994

Effect of trinucleotide repeat length and parental sex on phenotypic variation in spinocerebellar ataxia I.

Trinucleotide repeat expansion has been found in 64 subjects from 19 families: 57 patients with SCA1 and 7 subjects predicted, by haplotype analysis, to carry the mutation. Comparison with a large set of normal chromosomes shows two distinct distributions, with a much wider variation among expanded chromosomes. The sex of transmitting parent plays a major role in the size distribution of expanded alleles, those with > 54 repeats being transmitted by affected fathers exclusively. Our data suggest that alleles with > 54 repeats have a reduced chance of survival; these appear to be replaced in each generation by further expansion of alleles in the low- to medium-expanded repeat range, preferentially in male transmissions. Detailed clinical follow-up of a subset of our patients demonstrates significant relationships between increasing repeat number on expanded chromosomes and earlier age at onset, faster progression of the disease, and earlier age at death.

Adult↗
PubMed1993

Predictive value of neurological abnormalities in HIV 1 patients in the early stages of the infection.

A longitudinal clinical neurological and electrophysiological follow-up study was carried out on 31 HIV1 seropositive outpatients in the asymptomatic or LAS stages of the infection (CDC II-III). The results of clinical examination and multimodal evoked potentials (EP) recording showed a high percentage of abnormalities (42% and 39% of cases respectively); in a statistically significant number of subjects these abnormalities were predictive of subsequent immunological deterioration, thus demonstrating the close relationship between neurological and immunological functions in HIV1 infection.

Adult↗
PubMed1993

Clinical study of large kindreds with autosomal dominant HLA-linked spinocerebellar ataxia (SCA1) of late onset.

Six families with SCA1 were studied. The clinical data on 35 patients are reported. Cerebellar and pyramidal system involvement was invariably found in association with brainstem, spinal cord and/or peripheral nervous system disorders. In our patients the clinical features appeared concordant when the patients with the same disease duration were compared. Previous reports of SCA1 families had shown great variability in clinical phenotype both interfamilial and intrafamilial. We suggest that the phenotype might appear more homogeneous if disease duration is taken into account.

Adolescent↗
PubMed1993

Myopathy in long-term AZT therapy: clinical, electrophysiological and biopsy study in 67 HIV+ subjects.

The occurrence of muscular pathologies in AZT treated subjects has been evaluated in 67 HIV seropositive outpatients (56 AZT-treated and 11 untreated controls) in a neurological clinical and paraclinical follow-up study. Standard electromyographic and electrodiagnostic examinations, together with muscle enzyme determination, were performed in every subject, and periodically repeated at fixed intervals; in 11 patients a muscle biopsy sample was also obtained. An AZT-related myopathy was diagnosed in 8 biopsied cases; 9 more patients were considered to have AZT myopathy on clinical, EMG and ex juvantibus criteria. Statistical analysis showed that treatment duration was more relevant to the development of the myopathy than AZT dosage, though an individual predisposition could not be excluded, at least in a small number of cases. The risk of developing a toxic myopathy will therefore have to be considered when evaluating long-term effects of AZT therapy.

Adult↗
PubMed1993

[Italian Study on Atrial Fibrillation (SIFA): status report].

Non-valvular atrial fibrillation increases the risk of stroke by a factor of 5 and is present in about 15% of patients with acute stroke. Its prevalence in the general population increases from 0.5% at 50-59 years to > 10% at 80-99 years. In patients with non-valvular atrial fibrillation the risk of stroke increases with age, blood pressure and other evidence of cardiac disease. In addition, non-valvular atrial fibrillation is associated with a greater early mortality and a greater risk of recurrent stroke. The anticoagulant therapy to prevent early recurrent embolism is likewise controversial. Anticoagulant therapy appears to reduce this risk, but there is the danger of accentuating hemorrhagic infarction, especially in patients with large strokes. The effectiveness of antiplatelet drugs in patients with cardioembolic stroke is also not defined. The Studio Italiano Fibrillazione Atriale (SIFA) is a multicentric, randomized trial to assess the efficacy and safety of anticoagulant, warfarin, versus antiplatelet treatment, indobufen, a reversible inhibitor of platelet cyclo-oxygenase, in the prevention of recurrent cerebral ischemia and other systemic embolisms in non-valvular atrial fibrillation patients. Patients of both sexes, aged > 30 years with non-valvular atrial fibrillation, who have presented in the last 2 weeks an ischemic cerebral event (transitory ischemic attack or non-disabling stroke) and who have given their informed consent, were eligible. Patients with hemorrhagical diseases or contraindications to anticoagulant therapy were excluded. Patients were randomly given either indobufen (400 mg/die) or oral warfarin to an international normalized ratio of 2.0-3.5. The primary end-points were: recurrence of cerebral ischemia, systemic embolisms, intracranial or fatal hemorrhage, acute myocardial infarction, vascular death.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗
PubMed1993

Ultrastructural sperm abnormalities and cerebellar atrophy: does a correlation exist? Report of two cases without endocrine hypogonadism.

Spermiograms were performed in two young patients with cerebellar ataxia, one familial and the other sporadic. The subjects did not have endocrine abnormalities, but there was MRI evidence of cerebellar atrophy. Light and electron microscope examination revealed sperm abnormalities similar to those described in Purkinje cell degeneration (PCD). PCD is an autosomal recessive mutation observed only in the mouse, characterized by mild ataxia due to the postnatal degeneration of cerebellar Purkinje cells and male sterility due to morphological sperm abnormalities.

Adult↗
PubMed1993

Electrophysiological study (VEP, BAEP) in HIV-1 seropositive patients with and without AIDS.

One hundred-twenty nine HIV-1 seropositive patients (39 females, 90 males) were studied by means of pattern visual evoked potential (VEP) and brainstem auditory evoked potential (BAEP) recording. Utilizing the criteria of the Centers for Disease Control the patients were clinically defined and then subdivided into four groups: group A included patients of category II (n:11); group B patients of category III (n:29); group C patients of category IVa and IVc2 (n:55) and group D patients belonging to the other subgroups of category IV (n:34). EP were altered in 26.35% of the entire group with a marked prevalence of BAEP alterations (21.7%) rather than of VEP (4.65%). A considerable amount of BAEP abnormalities (24.13%) were found in patients with persistent generalized lymphadenopathy (group B). A significant increase of BAEP mean interpeak latencies were observed in group B, C, D patients when compared with those of the control group. On the whole, EP were altered in 20.65% of the neurologically asymptomatic patients. EP alterations may precede any clinical manifestation and can be found during the earlier phases of HIV-1 infection.

AIDS-Related Complex↗
PubMed1992

AZT-induced mitochondrial myopathy.

Histochemical, electron microscopy and biochemical studies were performed on muscle biopsy specimens from 11 AIDS patients treated with zidovudine. A peculiar association of structural abnormalities and mitochondrial dysfunction was found. Focal cytochrome c oxidase (COX) deficiency was evident in muscle sections from 9 patients, 8 of whom had received long-term treatment while one had been treated for 1 month only. Electron microscopy showed changes in number, size and structure of mitochondria. Biochemical studies proved partial COX and succinate cytochrome c reductase (SCR) deficiency in 4 patients; one patient had only reduced SCR activity. Our data confirm that AZT therapy can cause toxic myopathy with mitochondrial dysfunction.

Adult↗