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Biomedical subjects

G Campanella

Publications and source records attributed to G Campanella.

At least 19 recordsLinked to original sources

Prevalence of hereditary ataxias and spastic paraplegias in Molise, a region of Italy.

An epidemiological survey of hereditary ataxias and paraplegias was conducted in Molise, a region of Italy (335, 211 inhabitants on 1 January 1989). Total prevalence was 7.5 x 10(-5) inhabitants (95% confidence limits 4.8-11.1). There were 7 patients with Friedreich's disease, 5 with early onset cerebellar ataxia with retained tendon reflexes, 4 with ataxia-telangiectasia, 9 with hereditary spastic paraplegias (2 autosomal dominant and 7 autosomal recessive cases). There was no patient with autosomal dominant cerebellar ataxia.

Adolescent

Dopaminergic regulation of epileptic activity.

We evaluated the role of dopamine systems in the propagation of epileptic Focal, limbic seizures were produced by systemically administered pilocarpine (200 mg/kg, i.p.); as previously described this dose produces limbic stereotypes but neither convulsions nor seizure-related brain damage. The systemic pretreatment with D-1, but not D-2, agonists induced convulsions identical to those produced by a higher, convulsant dose of pilocarpine (400 mg/kg). Conversely, the pretreatment with D-1 receptor antagonists prevented the convulsions whereas the D-2 antagonists facilitated the pilocarpine-induced seizures. Furthermore, we studied the effects of intracerebral injections of dopamine agents on seizures induced by pilocarpine. Nigral microinjection of D-1 agonists strongly induced motor seizures in rats treated with the low dose of pilocarpine. On the other hand, microinjection of D-1 antagonists prevented the motor seizures induced by the high dose of pilocarpine. This study indicates that the two dopamine receptor subtypes, D-1 and D-2, exert opposing roles in the control of epilepsy propagation. Substantia nigra pars reticulata appears to be primarily involved in the dopamine-mediated modulation of seizures.

Animals

Effects of tartrate thyrotropin-releasing hormone treatment on serum thyrotropin, free triiodothyronine, free thyroxine and prolactin levels in patients with spinocerebellar degeneration.

The aim of the present study was to investigate the pituitary-thyroid axis function during the long-term (30 days) intramuscular administration of 4 mg/day of thyrotropin-releasing hormone tartrate (TRH-T) in 15 patients with spinocerebellar degeneration. The study was performed as follows: (1) acute 4 mg TRH-T test with hourly prolactin (PRL) and thyroid-stimulating hormone (TSH) level evaluations for 6 h; (2) placebo; and (3) 4 mg/day of TRH-T administration for 30 days with TSH, PRL, and free T3 and T4 (FT3 and FT4) levels evaluated on days 1, 15 and 30. Hormone determination was performed just before and 1 h after placebo or TRH-T administration. The acute administration of TRH-T caused a sustained rise of TSH which lasted until the 6th hour and of PRL which declined after 1 h (p < 0.01). During placebo administration, no change of TSH, PRL, FT3 or FT4 was observed. On the 1st day of treatment, 1 h after the TRH-T injection, a significant increase of both TSH and PRL levels occurred (p < 0.01). As compared to the 1st day, a significant decrease of the TSH (p < 0.01) levels occurred on the 15th and 30th days before TRH-T: the TSH response to TRH-T administration was present although less than on the 1st day (p < 0.01). Moreover, throughout the whole period of treatment, no difference was recorded for PRL levels before or after TRH-T administration.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent

Beta-adrenoceptor modulation in a case of pure autonomic failure.

In a patient with pure autonomic failure, exercise did not modify beta-adrenoceptor density, probably due to an insufficient increase in plasma catecholamines. Isoproterenol infusion increased the number of beta-adrenoceptor by only 17%. Since in control subjects an increased beta-adrenoceptor level was found, following both physical stress and isoproterenol infusion, we suggest that the lack of increased beta-adrenoceptor levels may contribute to the poor circulatory adjustments observed in autonomic dysfunction during activities involving the sympathetic nervous system.

Autonomic Nervous System Diseases

Dopamine D1 and D2 receptors mediate opposite functions in seizures induced by lithium-pilocarpine.

The effect of selective dopamine receptor blockade on epileptic activity was tested in rats, using the lithium-pilocarpine seizure model. One day after lithium pretreatment, systemic administration of the dopamine D1 antagonist, SCH 23390, prevented the convulsive activity induced by either 10 or 15 mg/kg of pilocarpine in a dose-dependent manner as revealed by behavioral and electroencephalographic alterations. No anticonvulsant effect was observed when SCH 23390 was injected at the same time as lithium and 24 h prior to pilocarpine. Furthermore, the D2 antagonists, raclopride and haloperidol, potently reduced the threshold for convulsions induced by 10 mg/kg of pilocarpine, following lithium pretreatment. Neither dopamine D1 nor D2 antagonists altered the limbic stereotypies induced by pilocarpine, supporting the view that the dopamine system is primarily involved in the mechanisms of convulsion generation and seizure spreading. These results indicate that dopamine receptor subtypes exert opposite functions on the regulation of convulsive activity.

Animals

Intrafamilial phenotype variation in Friedreich's disease: possible exceptions to diagnostic criteria.

Three families are described which include members with "typical" Friedreich's disease (FD) and others who are ataxic but do not satisfy all the diagnostic criteria for that disease. In family A two patients have an early-onset, rapidly progressive FD, while two others have a late-onset, more benign form. In families B and C one member has "typical" FD, and another has a similar ataxic syndrome, except for preservation of knee jerks. Laboratory evaluation is consistent with the diagnosis of FD in all cases. FD diagnosis appears justified in secondary cases with late onset or preserved tendon reflexes, provided that the index case fulfils all diagnostic criteria. Whether the diagnosis of FD is tenable in sporadic "atypical" cases remains to be seen. Echocardiographic and neurophysiological examination may be valuable in classifying such cases.

Adolescent

Influence of age, gender, height and education on vibration sense. A study by tuning fork in 192 normal subjects.

We measured perception time of the vibratory stimulus from a 128 cps tuning fork in 96 male and 96 female normal subjects equally subdivided into 8 age decades. The following sites were examined: clavicula, olecranon, styloid apophysis of ulna and radius, anterosuperior spina of ilium, rotula (patella), internal and external malleolus. Reproducibility between different examiners and between tests by the same examiner on different days was good. There was a marked regional variation with longer perception times at the distal regions of upper limbs. A non linear age-related decrease in vibration sense was found in all regions. Males had longer perception times at clavicula, females at distal limbs; the latter finding might be explained by shorter stature in females. Perception times at distal limbs were longer in subjects with higher education levels. The study provides normative data for vibration sense in different regions and defines the effects on it of age, gender, height and education.

Adolescent

Glycosaminoglycan polysulfate in the treatment of old age dementias.

1. In a multicenter, placebo-controlled, double-blind clinical trial in 155 elderly patients with cognitive decline, glycosaminoglycan polysulfate was found to be a therapeutically effective agent in the treatment of old age dementias. 2. Treatment with glycosaminoglycan polysulfate in the daily dosage of 600 LRU, administered on the basis of a divided dosage schedule for 12 weeks, was significantly superior to an inactive placebo on several outcome measures including the Wechsler Memory Scale-Russell Revision (Easy Paired Associates Learning and Immediate Visual Reproduction), Mini Mental State Examination, the Sandoz Clinical Assessment Geriatric (Cognitive Dysfunction and Depression), Hachinski Dementia Scale, Brief Psychiatric Rating Scale (Confusion and Depressive Withdrawal) and Global Improvement Scale of the Clinical Global Impression. 3. Adverse effects with glycosaminoglycan polysulfate were few and mild. The drug was equally well tolerated and equally effective in the two major dementias of old age, i.e., primary degenerative and multi-infarct. The number of abnormal laboratory test readings remained essentially unchanged from pre-treatment to post-treatment.

Activities of Daily Living

Parkinson's disease and hypotension: 24-hour blood pressure recording in ambulant patients.

Continuous intra-arterial blood pressure was recorded in 5 ambulatory patients with Parkinson's disease and in 5 control subjects. The 24-h mean systolic blood pressure was 135 +/- 7.6 mmHg in controls and 123.8 +/- 8.1 mmHg (p less than 0.01) in the parkinsonian group. Similarly, diastolic blood pressure was 89 +/- 8.1 mmHg in the control group while in the parkinsonian patients it was lower, 69.4 +/- 5.8 (p less than 0.01). Averages were also calculated for 8-h periods, the results of which indicate that both systolic and diastolic blood pressure were significantly lower in patients than in controls in all three 8-h periods of the day. We normalized the blood pressure curve to mealtimes and arousal times and did not observe any difference between parkinsonian patients and controls. This first study reporting continuous intra-arterial blood pressure measurements in ambulant parkinsonian patients demonstrates that blood pressure in such patients is lower than the mean for their age group. This finding may be of direct relevance in the management of idiopathic parkinsonism.

Adult

Genetic data and natural history of Friedreich's disease: a study of 80 Italian patients.

The clinical and genetic features of 80 patients with Friedreich's disease from 64 families are described. Diagnostic criteria were: no evidence of dominant inheritance, onset by the age of 20 years, progressive unremitting ataxia of limbs and gait, and absence of knee and ankle jerks. Furthermore, at least one of the following accessory signs was present: dysarthria, extensor plantar response and echocardiographic evidence of hypertrophic cardiomyopathy. Two peaks of onset age were evident at 6-9 and 12-15 years. Analysis of intra-family variation of onset age and absence of clustering of cardiomyopathy and diabetes did not suggest genetic heterogeneity. Peripheral nerve impairment was an early finding and showed slight further progression, whereas involvement of the cerebellar and corticospinal pathways appeared later and mainly accounted for the progressive worsening of the disease.

Adolescent

Dopamine D1 receptor modulation of pilocarpine-induced convulsions.

The contribution of dopaminergic mechanisms to the generalization of epileptic activity was studied in rats given pilocarpine after pretreatment with selective dopamine agonists. At the dose of 200 mg/kg, pilocarpine produced limbic stereotypes but not convulsions or seizure-related brain damage. Pilocarpine, 200 mg/kg, following pretreatment with the D1 agonist (RS)-2,3,4,5-tetrahydro-7,8-dihydroxy-1-phenyl-1H-3 benzazepine, but not its (S)-enantiomer, induced convulsive activity as revealed by behavioral, electroencephalographic alterations and widespread brain damage. These features were identical to those produced by a higher, convulsant dose of pilocarpine (400 mg/kg). On the other hand, pretreatment with the D2 agonist 4,4a,5,6,7,8,8a,9-octahydro-5-n-propyl-2H-pyrazolo-3,4-g-quinoline failed to induce convulsions. Furthermore, the D1 receptor antagonist (R)-(+)-8-chloro-2,3,4,5-n-tetrahydro-3-methyl-5-phenyl-1H-3-benzazepine -7-ol prevented the convulsive activity induced by both 2,3,4,5-tetrahydro-7,8-dihydroxy-1-phenyl-1H-3 benzazepine plus pilocarpine (200 mg/kg) and pilocarpine (400 mg/kg), given alone. However, neither dopamine agonists nor antagonists altered the limbic stereotypes induced by pilocarpine, suggesting a dopamine system involvement primarily in the mechanisms of epilepsy generalization. The results suggest that pharmacological manipulation of dopaminergic transmission may provide an alternative approach to therapy of secondarily generalized epilepsy.

2,3,4,5-Tetrahydro-7,8-dihydroxy-1-phenyl-1H-3-ben

Clinical and genetic heterogeneity in early onset cerebellar ataxia with retained tendon reflexes.

A clinical and genetic study was performed on 20 patients affected by early onset cerebellar ataxia with retained tendon reflexes (EOCA). Mean age at onset was 8.8 (SD 6.0) years. The frequency distribution of age of onset significantly differed from the normal distribution. Consanguinity rate was 16.7% and segregation ratio 0.164. As well as ataxia, which was a constant feature, there were signs of involvement of the cortico-spinal tracts and/or peripheral nerves in most patients. Results of neurophysiological studies were not homogeneous, nor were morphological findings of the sural nerve biopsy. The data suggest that EOCA may be genetically and clinically heterogeneous.

Adolescent

[Environmental factors in the etiology of Parkinson's disease].

We examined the role of the environment in the development of Parkinson's disease (PD). A group of 42 parkinsonians have been compared with a group of 84 matched controls. The epidemiological study (1987-1989) covered the territory of the Community Health Department of Valleyfield, in southern Quebec (Canada). Odds ratio adjusted for age and sex were calculated for seven environmental factors. A decreased risk for PD was associated with residence in rural areas (OR: 0.31; p less than or equal to 0.05) and residence near industry or mining (OR: 0.15; p less than or equal to 0.05). An increased risk for PD seems to be associated with occupational exposure to the three metals Mn, Fe and Al (OR: 2.28; p = 0.07) especially when the duration of exposure is longer than 30 years (OR: 13.64; p less than or equal to 0.05). Other environmental factors not found to be associated with PD were: pesticides manipulation, farm work, industrial work and well water consumption.

Environment

[Intraoperative calibration of the Vater's papilla using Fogarty's biliary catheter].

The study included 20 patients affected by cholelithiasis and choledocholithiasis. Al patients underwent cholecystectomy; after choledochotomy, choledochal stones were removed using a Fogarty's biliary catheter (no. 5) and, subsequently, the papilla was calibrated by inserting the end balloon of the catheter, which and been filled with 0.3 cc of water, beyond the level of the papilla itself. The catheter was then withdrawn. No T-tubes were left in the common bile duct in any patient, no post-operative complications were observed and all patients were dismissed within seven days.

Ampulla of Vater

[Complicated torsion of the gallbladder. Presentation of a clinical case].

A case of gallbladder torsion complicated by sigmoid volvulus and sub-torsion of the ileus is reported because of the difficulty of diagnosis, conditioned by polymorphic symptomatology, the expression of a variety of causes and contributing causes that play an important role in the greater or less onset of dramatic symptomatology, and because of the rarity of the pathology.

Aged

Late onset recessive ataxia with Friedreich's disease phenotype.

The Quebec Cooperative Study on Friedreich's ataxia required an onset before age 20 as an obligatory criterion of Friedreich's disease (FD). Harding included patients with onset before 25 years. We studied nine patients with FD phenotype but with onset ranging from 21 to 29 years (mean 24.4). Statistical analysis of the distribution and intrafamilial variation of onset age suggests that late onset Friedreich's disease (LOFD) is a distinct genetic entity or results from modifying genes in some families. Scoliosis was less common in LOFD than FD patients but otherwise the clinical picture was similar.

Adolescent