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Biomedical subjects

L Angelini

Publications and source records attributed to L Angelini.

At least 73 records · Page 4Linked to original sources
PubMed1992

Progressive dystonia symptomatic of juvenile GM2 gangliosidosis.

A 9-year-old boy showed a progressive generalized dystonia, with onset at the age of 4 years, combined with mental deterioration and behavioral disturbances. The values of beta-hexosaminidase activities studied in plasma, leukocytes, and fibroblasts obtained using two different substrates (MUG-NAc and MUG-NAc-6-S) were significantly reduced but higher than in Tay-Sachs disease and similar to those found in the juvenile chronic form of GM2 gangliosidosis. With anticholinergic therapy, for 1.5 years, the dystonic symptoms did not progress and the boy can still care for himself and attend school. The description of another case of the disease, clinically expressed as dystonia, corroborates the existence of a dystonic phenotype of GM2 gangliosidosis.

Child↗
PubMed1992

Hallervorden-Spatz disease: clinical and MRI study of 11 cases diagnosed in life.

The diagnosis of Hallervorden-Spatz disease (HSD) has usually been made post mortem, although the recent description of characteristic abnormalities in the globus pallidus has suggested the possibility of an in vivo diagnosis. We present the clinical histories, neurological features and MRI findings of 11 patients, diagnosed as having HSD. Generalized dystonia with predominance of oromandibular involvement, behavioural changes followed by dementia and retinal degeneration were present in all the patients. MRI pallidal abnormalities consisted of decreased signal intensity in T2-weighted images, compatible with iron deposits, and of a small area of hyperintensity in its internal segment ("eye of the tiger" sign). We propose that the combination of these neurological signs with these MRI findings could be considered as highly suggestive of a diagnosis of HSD in living patients.

Adolescent↗
PubMed1991

Hemifacial spasm in a child.

Hemifacial spasm in a 10-year-old child is herein reported. Computed tomography and angiography were normal. Magnetic resonance imaging showed an anomalous vascular structure, probably a redundant loop arising from AICA or PICA, which was identified at surgery. The spasm, presumably due to vascular compression at the root entry zone of the right facial nerve, promptly and completely remitted after surgical decompression, without functional deficits. Atypical clinical features, as well as pre- and postoperative neurophysiological findings supporting the microvascular compression theory, are discussed.

Cerebellum↗
PubMed1991

Childhood multiple sclerosis (MS): multimodal evoked potentials (EP) and magnetic resonance imaging (MRI) comparative study.

We compared the diagnostic sensitivity of magnetic resonance imaging (MRI) and evoked potential (EP) studies in a series of 19 children affected by clinically definite (16 cases) and laboratory supported (3 cases) multiple sclerosis (MS). MRI revealed abnormal areas consistent with demyelinating plaques in 18 out of 19 cases: multiple lesions in 16 and an isolated lesion in 2 cases. Abnormal areas were more frequently found in supratentorial regions than in other areas of the central nervous system. In all patients, the distribution, form and topography of the lesions were typical of MS and similar to those found in the adult form of the disease. Multimodal EP were abnormal in 16 out of 19 cases. Visual (VEP) and somatosensory evoked potentials (SEP) abnormalities were frequently asymptomatic and VEPs were particularly sensitive in ascertaining childhood MS. MRI was slightly more sensitive than multimodal EP in confirming the clinical diagnosis of childhood MS. However, in suspected or probable MS with normal MRI, VEPs and SEPs may contribute to the definition of clinical diagnosis because of their capacity to demonstrate asymptomatic involvement in central nervous system (CNS) the optic nerve and central somatosensory pathways).

Adolescent↗
PubMed1990

The effect of meningococcal group A and C polysaccharide vaccine on nasopharyngeal carrier state.

The effect of Neisseria meningitidis group A and C polysaccharide vaccine on nasopharyngeal carriage was studied in Italian army recruits. Throat swabs were cultured for N. meningitidis at the time of vaccination (one week after entry to service) and again three weeks later in a follow-up cohort of 98 men. At the first survey the overall carriage rate was 32% with 9% of isolates due to serogroup C, none to serogroup A and 17% to serogroup Y. At the second survey the overall carriage rate reached 52% (P less than 0.01); no isolate belonged to serogroup A or C, while serogroup Y reached 40% (P less than 0.01). The cumulative carriage rate was 65%. Out of the 64 carriers during the whole study period, only 7 (11%) belonged to the same serogroup during the two different surveys. The vaccination appears to influence the carriage rate of meningococcal specific serogroups. The inhibition of serogroups A and C is, however, offset by an increased prevalence of meningococci belonging to serogroup Y.

Bacterial Vaccines↗
PubMed1990

[Surgery in aged patients: a study on 476 surgical cases].

The Authors report their experience from 1984 to 1989 with surgery in the elderly. Patients aged 75 years were considered as geriatric and entered the study. Mortality and morbidity rates were analysed in 476 cases operated. Pre-existent diseases were related to postoperative complications. The Authors conclude underlining the feasibility of geriatric surgery as well as the acceptable risk rate.

Age Factors↗
PubMed1989

Idiopathic dystonia with onset in childhood.

The natural history of early-onset idiopathic dystonia was studied in 30 patients. Worsening of motor symptoms was observed in the early stages, followed by spontaneous stabilization. Most of the patients retained functional independence. None showed mental deterioration, mood alteration or personality disturbance.

Age Factors↗
PubMed1989

Typical and atypical forms of paroxysmal choreoathetosis.

Two children with clinical pictures of paroxysmal kinesinogenic choreoathetosis and paroxysmal dystonic choreoathetosis are described and compared with previous reports with regard to diagnostic procedures, therapeutic approach and prognosis. A third case, characterized by paroxysmal dyskinesia induced by exercise and associated with choreiform nonprogressive signs, is also described. Such an association has not been reported previously. This unusual clinical picture indicates the possibility of intermediate forms in the paroxysmal choreoathetosis group and suggests a relationship between paroxysmal motor disorders and benign familial chorea with early onset.

Adolescent↗
PubMed1988

Mortality for tracheal, bronchial and lung cancer: possibilities and limits in data quality-control.

Linkage of various archives (municipal, hospital, autopsy) has enabled the authors to reconstruct the flow of information regarding death due to tracheal, bronchial or lung cancer (TBL ca) for the population residing within the Municipality of Ferrara during the period 1983-1985. The authors subsequently attempted to verify the cause of death by performing quality controls on clinical charts, radiologic findings, cytohistologic examinations and autopsy findings. Analysis of the data obtained in this manner suggests that municipal records are more "accurate" than are hospital records. The authors likewise indicate the usefulness and importance of the autopsy for a correct diagnosis of cause of death.

Aged↗
PubMed1988

Transient paroxysmal dystonia in infancy.

A group of nine patients with paroxysmal non epileptic motor disorders, with onset in the first year of life, is presented. The characteristics of the attacks define them as paroxysmal dystonia. The progression of the symptoms showed a spontaneous remission in a short length of time (6-22 months) in most infants. In two of them the symptoms persist, showing, however, a progressive decrease. All the laboratory tests were normal. None of the subjects revealed neurological signs and psychomotor development was normal. A likely correlation between transient early-childhood paroxysmal dystonia and developmental processes is discussed.

Child Development↗
PubMed1988

[Apert's syndrome].

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Acrocephalosyndactylia↗