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Biomedical subjects

D Sità

Publications and source records attributed to D Sità.

15 recordsLinked to original sources
PubMed2005

Creutzfeldt-Jakob disease associated with the R208H mutation in the prion protein gene.

The authors investigated a patient who died of apparent sporadic Creutzfeldt-Jakob disease (CJD) but carried a R208H substitution in the prion protein (PrP). The patient phenotype was indistinguishable from typical sporadic CJD (i.e., MM1 subtype). In addition, pathologic PrP, PrP(Sc), originated from both the normal and the mutated PRNP allele and had the same characteristics as PrP(Sc) type 1. The authors propose that the R208H mutation influences disease susceptibility without significantly affecting PrP(Sc) properties or disease phenotype.

14-3-3 Proteins↗
PubMed1992

The cerebrospinal fluid in the diagnosis of tuberculous meningoencephalitis: review of the literature.

We review the literature on the biochemical, cytological and immunological changes in the cerebrospinal fluid (CSF) in tuberculous meningoencephalitis, emphasizing the inconsistency and low specificity of the CSF findings described in classic accounts of this disease. We consider separately the possible causes of yellow or bloody fluid. The development of accurate techniques of analysis does not diminish the importance of the clinical findings and history in the early diagnosis of this disease.

Biochemistry↗
PubMed1989

Histopathological correlates of leuko-araiosis in patients with ischemic stroke.

A neuropathological study was carried out in 4 cases of ischemic stroke with leuko-araiosis (LA), 3 cases of clinically suspected Binswanger's subcortical arteriosclerotic encephalopathy (SAE) also showing LA, and 3 cases without LA. Unlike the SAE cases, in 3 of the cases in the first group the white matter changes corresponding to LA could not be explained by ischemic mechanisms related to small vessel changes.

Aged↗
PubMed1988

Effectiveness of azathioprine treatment in multiple sclerosis.

As the effectiveness of continuous azathioprine therapy in multiple sclerosis (MS) is still controversial, we have conducted a prospective trial of the drug (2 mg/kg daily for at least 2 years) in patients with clinically definite MS, ie with remitting, remitting-progressive and progressive MS. At the end of an average 3-year follow-up 65% of the 40 patients with remitting-progressive had the same EDSS score as they had to start with. This was observed mainly in patients with longstanding MS and a high baseline EDSS. Of the 22 patients with a remitting course 77% showed no clinical deterioration and the annual relapse rate declined, although not significantly. In only one case did the remitting disease become remitting-progressive. Azathioprine would seem to have some efficacy in delaying the progression of remitting MS.

Adult↗
PubMed1987

Short-term intensive cyclophosphamide treatment in progressive multiple sclerosis.

14 patients with chronic progressive multiple sclerosis, selected in a preliminary uncontrolled trial, were given a short course of intensive cyclophosphamide therapy, which was discontinued when the leukocyte count fell to 3000 cu.mm. 5 patients dropped out because of severe side effects. At 1 year follow-up were neurologically unchanged since admission to the trial; 4 remained stable at 2 years. The lack of clinical improvement, the high frequency of side effects and the proven oncogenicity of cyclophosphamide led us to discontinue the trial.

Adult↗
PubMed1986

Huntington's chorea: a prevalence study in the Florence area.

A prevalence study of Huntington's chorea in Florence area in the period 1970-1979. Two clusters have been identified and the frequency of subjects heterozygote for Huntington's gene has been determined for planning Public Health intervention and the preparation of correct genetic counselling.

Adolescent↗
PubMed1986

Peripheral ophthalmoplegia as the only sign of late-onset fibrous dysplasia of the skull.

A 49-year-old woman presented with a left eye abduction-elevation defect and a bilateral internal rectus palsy of peripheral origin. Thyroid function, cranial computed tomographic scan, and cerebrospinal fluid examination were normal, as were the prostigmine test for myasthenia gravis and the guanidine hydrochloride test for myasthenic syndrome. Skull radiography showed osteosclerotic and osteolytic areas, with slight orbital distortion, and there was hyperactivity in an isotopic scan. A skill biopsy showed fibrous dysplasia. This case is an unusual example of fibrous dysplasia of the skull with neuro-ophthalmological symptoms but without ptosis, exophthalmos, or visual loss.

Female↗
PubMed1984

Possible effectiveness of plasmapheresis on the neurological complications in a case of acute intermittent porphyria.

A 56 year old woman with acute intermittent porphyria presented mainly motor polyneuropathy, ophthalmoparesis of probable supranuclear origin and a mild organic brain syndrome. The neurological complications gradually cleared during a course of plasmapheresis. The fairly rapid improvement could conceivably have been fortuitous but it may well have been due to plasmapheresis.

Female↗
PubMed1981

The tolosa-Hunt syndrome: further clinical and pathogenetic considerations based on the study of eight cases.

The Tolosa-Hunt syndrome (THS) is characterized by remittent and sometimes recurring episodes of painful ophthalmoplegia. The etiopathogenesis is still unclear and is an object of controversy. A non-specific granulomatous process of the wall of the cavernous sinus is claimed by many authors as the possible cause, on the basis of a few pathological studies. Other authors suggest the possible role of autoimmune or specific inflammatory processes localized in the retroorbital perineural tissues. The clinical, laboratory and radiological findings of the eight cases reported in the agreement with those previously described in the literature. However, the visual evoked potentials (VEP) were delayed in three of the four cases in which they had been studied. This finding, together with the observation that some analogies exist between THS and other well known neuritic processes of the cranial nerves, may suggest that at least in some cases THS may be related to an ocular polyneuritis.

Adult↗
PubMed1981

Diagnostic CT scan findings in an adult case of acute disseminated leuco-encephalitis.

A complex neurological syndrome, which rapidly appeared in a 54-year-old woman, created strong diagnostic difficulties. In fact, while the carotid-angiography was negative and CSF not significant, the scintigraphy suggested a multifocal metastatic or infarctual pathology. The CT scan easily allowed us to resolve the diagnostic problem, showing in the oval centres numerous enhanced areas which were consistent with a disseminated leuco-encephalitis. This case confirmed the opinion of the authors that CT scan may usefully contribute to the diagnosis of the demyelinating disorders of CNS.

Demyelinating Diseases↗
PubMed1981

Progressive peroneal muscular atrophy (Charcot-Marie-Tooth disease) associated with beta-thalassemia trait and glucose-6-phosphate dehydrogenase (G-6-PD) deficiency. A clinical and nerve biopsy case.

The case of a 22 year old woman presenting progressive peroneal muscular atrophy (PMA) is described. Electrophysiological and pathological studies demonstrated features of hereditary motor and sensory neuropathy -HMSN- type I. Laboratory findings showed two erythrocytic defects: beta-thalassemia trait and a glucose-6-phosphate dehydrogenase (G-6-PD) deficiency. Unlike the past, these inherited disorders are associated with PMA.

Adult↗
PubMedDate not supplied

[Loss of psychic autoactivation syndrome: bilateral lacunae of the neostriatum. Clinico-radiological study of 2 cases].

In two patients with lack of spontaneous activity and emotionality, without dementia or depression and in absence of other neurologic signs, the "athymormia syndrome" has been diagnosed. CT scan and MRI showed bilateral symmetrical lesions in basal ganglia. We discuss the possible pathophysiological basis of the syndrome and the recent data about the functional connections among basal ganglia, frontal cortex and limbic system.

Adult↗
PubMedDate not supplied

[Late myelopathy caused by ionizing radiation. Considerations on 3 cases].

Three cases of tardive myelopathy were identified among more than one thousand patients treated for tumors by X-rays at the Institute of Radiology of the University of Florence during the period 1974-83. In two of these, the clinical picture was that of a partial Brown-Séquard syndrome while in the third case it corresponded to a transverse myelitis. The myelopathy of the former patients can be attributed to the total radiation dose, which was very close to the tolerance limit. The third patient's disturbance, instead, involved additional factors of individual hypersensitivity of connective vascular tissue in response to the X-ray treatment. These cases, while few in number and lacking pathological investigation, call attention to this iatrogenic disorder which, though rare now thanks to progress in limiting radiation exposure, has not yet disappeared.

Adult↗