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Biomedical subjects

E Lugaresi

Publications and source records attributed to E Lugaresi.

At least 19 recordsLinked to original sources
PubMed1992

Endogenous benzodiazepine receptor ligands in idiopathic recurring stupor.

"Endozepines" are endogenous ligands for the benzodiazepine recognition sites on gamma-aminobutyric acid A receptors in the nervous system. Idiopathic recurring stupor (IRS) is a syndrome of spontaneous stupor or coma that is not associated with known metabolic, toxic, or structural abnormalities but can be reversed by flumazenil, a pure benzodiazepine antagonist. We measured endozepine-2 and endozepine-4 by high-performance liquid chromatography and radioreceptor assay in serum and cerebrospinal fluid from three patients with IRS. During episodes of stupor there was a large (up to 300-fold compared with control patients) increase of endozepine-4 content in cerebrospinal fluid and serum, but a return to normal concentrations between attacks. Endozepine-4 may contribute to, or be the cause of, IRS. The reasons for abnormal concentrations of endozepine in blood and brain are unknown.

Adult↗
PubMed1992

Idiopathic recurring stupor: a case with possible involvement of the gamma-aminobutyric acid (GABA)ergic system.

A patient had recurrent spontaneous episodes of stupor or coma in the absence of toxic, metabolic, or structural brain damage. Ictal electroencephalography showed fast 14 Hz background activity; sleep studies excluded narcolepsy. Flumazenil (Anexate), a benzodiazepine antagonist, promptly resolved the episodes and normalized the electroencephalogram. Radioreceptor binding studies showed the presence of a ligand to the central benzodiazepine receptor in plasma and cerebrospinal fluid during the episodes, suggesting a gamma-aminobutyric acid (GABA)ergic system involvement in the origin of the attacks.

Benzodiazepines↗
PubMed1992

Isolated failure of noradrenergic transmission in a case with orthostatic hypotension and hyperactivity of gastro-colic reflex.

We describe a 37-year-old man with a long-standing history of impotence and urgency of defaecation. The latter invariably followed the ingestion of food. Studies of cardiovascular autonomic function disclosed asymptomatic orthostatic hypotension due to isolated sympathetic noradrenergic failure with intact cardiac vagal control. There were no other neurological abnormalities. Levels of plasma noradrenaline and urinary vanillylmandelic acid were very low but plasma dopamine and urinary homovanillic acid were normal. A low level of dopamine-beta-hydroxylase activity was detected in plasma. The patient's parents were first cousins. The parents, the brother and the sister were investigated and clinical and biochemical studies showed no abnormalities. We conclude that this is a further observation of orthostatic hypotension due to isolated adrenergic failure with clinical and biochemical features different from cases previously described.

Adult↗
PubMed1992

Abnormal sympathetic skin responses in thalamic lesions.

Sympathetic skin responses (SSRs) were abolished in 4 patients affected with fatal familial thalamic degeneration involving the anterior (A) and dorsomedial (DM) thalamic nuclei, without lesions of the peripheral vegetative system. Abnormalities of SSR were not due to peripheral nerve lesions. It is concluded that SSR integrity also depends upon thalamic formations ("visceral" thalamus) and their frontal cortical connections.

Adult↗
PubMed1992

"Fatal familial insomnia": neuropsychological study of a disease with thalamic degeneration.

Fatal Familial Insomnia (FFI) is an inherited disease characterized clinically by sleep, autonomic and motor disturbances and pathologically by marked atrophy of the anterior and dorsomedial nuclei of the thalamus. The neuropsychological study of three cases of FFI showed: (1) a progressive disturbance of attention and vigilance, (2) a memory deficit with lability of mnesic traces and difficulty in manipulation and ordering of events, suggesting an alteration of working memory and (3) a deficit of frontal abilities with impairment in planning and prevision of events but preservation of general intelligence.

Adult↗
PubMed1992

Dystonic attacks related to sleep and exercise.

Two unrelated children displayed attacks of paroxysmal jerky 'puppet-like' movements lasting 2-3 min. The attacks were not kinesigenic and occurred during wakefulness precipitated by physical exercise and during NREM sleep, spontaneous or upon arousal and awakenings. Paroxysmal dystonic choreoathetosis was excluded by the absent family history, and paroxysmal kinesigenic dystonia by the absence of triggering effects by sudden movements and efficacy of anticonvulsants. Pattern and duration of involuntary movements were not those typical of nocturnal paroxysmal dystonia. Our cases emphasize that overlap exists among the different clinical categories of paroxysmal dyskinesia.

Arousal↗
PubMed1992

Fatal familial insomnia: a second kindred with mutation of prion protein gene at codon 178.

Fatal familial insomnia (FFI), a condition characterized by inability to sleep, dysautonomia, motor disturbances, and selective thalamic atrophy is a prion disease linked to a GAC----AAC mutation at codon 178 of the prion gene. These data were obtained from one kindred. We now report a second kindred affected by FFI and carrying the same mutation. The finding of the same disease phenotype and genotype in a second family further validates FFI as a distinct disease entity and a phenotype of the GAC----AAC mutation at codon 178 of the prion gene.

Base Sequence↗
PubMed1992

Abnormal brain and muscle energy metabolism shown by 31P magnetic resonance spectroscopy in patients affected by migraine with aura.

We studied brain and muscle energy metabolism by phosphorus 31 magnetic resonance spectroscopy (31P-MRS) in 12 patients affected by migraine with aura (classic migraine) in interictal periods. Brain 31P-MRS disclosed a low phosphocreatine content in all patients, accompanied by high adenosine diphosphate concentration, a high percentage of V/Vmax (adenosine triphosphate), and a low phosphorylation potential--features showing an unstable state of metabolism in classic migraine. Abnormal muscle mitochondrial function, in the absence of clinical signs of muscle impairment, was present in nine of the 12 patients examined.

Adenosine Diphosphate↗
PubMed1992

Mitochondrial DNA analysis in Leber's hereditary optic neuropathy.

A mitochondrial DNA (mtDNA) mutation at nucleotide 11778 has been reported as the genetic defect associated with Leber's hereditary optic neuropathy (LHON), but some pedigrees failed to reveal this mutation. The authors present the genetic analysis of a large Italian LHON family with three probands and 16 asymptomatic maternal relatives. The 11778 mtDNA mutation was present in this family and absent in 52 Italian healthy controls, confirming the association between this genetic defect and LHON. In addition, they found a variable proportion of mutated and wild-type mtDNA (heteroplasmy) in every maternally related family member, including the probands. Different patterns of heteroplasmy were present in the pedigree and lower levels of wild-type mtDNA seemed to correlate with the disease status. Moreover, the authors evaluated the mitotic segregation of mt genomes in blood, hair and urinary tract epithelia of the three patients and they found a similar level of heteroplasmy in these tissues.

Base Sequence↗
PubMed1992

Epileptic amnesic syndrome.

Thirteen patients with "epileptic amnesic syndrome" (EAS) presented with adult-senile onset of a severe memory complaint that started before or at the same time as seizures. All were diagnosed as temporal lobe epilepsy (TLE). The seizures were stereotyped, with only short loss of contact and oral automatisms, and because they were not obvious or disturbing, they remained underdiagnosed for a long time. Nine cases also presented attacks of transient anteroretrograde amnesia after the seizures--called "epileptic amnesic attacks" (EAA)--during which the patients were able to perform complex actions. EAA are similar to the attacks of transient global amnesia (TGA) but are more frequent, shorter, accompanied by clear-cut clinical and electroencephalographic epileptic manifestations, and respond favorably to antiepileptic therapy. Neuropsychological investigation ruled out global mental deterioration, showing only selective memory impairment in a few long-term tasks and dissociation between formal findings and the relevant memory complaint. These cases have uniform anamnestic, clinical, and neuropsychological characteristics and represent a particular clinical expression of TLE, namely EAS. We suggest that an epileptic origin be entertained in patients presenting repeated amnesic attacks resembling TGA or who complain of persistent memory disturbance, after more common etiologies have been excluded.

Adult↗
PubMed1992

Cognitive effects of antiepileptic drug discontinuation.

We studied the cognitive effects of antiepileptic drugs (AEDs), by investigating epileptic patients who were seizure-free for a long time and who were undergoing fixed monotherapy. Ninety patients [27 with phenobarbital (PB), 18 with carbamazepine (CBZ), 16 with phenytoin (PHT), and 29 with valproate (VPA)] were examined by a neuropsychological battery exploring intelligence, vigilance, attention, memory, and visuomotor performances at full AED dose (T1) and compared to 28 normal volunteers. We also evaluated the effects of AED discontinuation by retesting patients 3 months after reduction at half drug dose (T2) and 3 months (T3) and 1 year (T4) after complete discontinuation. Our findings showed that patients receiving CBZ did not differ from controls at any time of examination. Patients receiving PB had significant differences only at T1 (visuomotor performance and immediate spatial memory). Patients receiving VPA showed differences in attention, visuomotor performance, verbal span and sensory discrimination tasks at T1, in visuomotor performance at T2 and in spatial span at T3, whereas no differences were detected at T4. Patients receiving PHT had a difference in intelligence and visuomotor performance at T1, in intelligence at T2, and no differences at T3 or T4. This study model is useful for investigating the cognitive effects of AED because it allows selection of a uniform sample, eliminating variables such as type, frequency, and gravity of seizures that complicate this kind of study.

Adolescent↗
PubMed1992

Haemodynamic effects of short-term nasal continuous positive airway pressure therapy in sleep apnoea syndrome: monitoring by a finger arterial pressure device.

We have evaluated the effects of short-term nasal continuous positive airway pressure (nCPAP) therapy on systemic blood pressure and heart rate in patients with obstructive sleep apnoea syndrome. Twenty five consecutive patients were examined during baseline conditions (No-CPAP) and during one night of nCPAP treatment (CPAP). The mean value and the variation coefficient of cardiovascular variables, examined by a finger arterial pressure device (Finapres), were determined in wakefulness and sleep. Without nCPAP an increase in blood pressure from wakefulness to sleep was observed in all patients from 138 +/- 3 mmHg to 146 +/- 3 and 155 +/- 4 mmHg, and from 80 +/- 1 mmHg to 82 +/- 2 and 84 +/- 2 mmHg, respectively, for systolic and diastolic values in non rapid eye movement (NREM) and rapid eye movement (REM) sleep. Conversely, heart rate decreased from 75 +/- 2 beats.min-1 to 70 +/- 2 and 69 +/- 2 beats.min-1. In addition, variability of heart rate and blood pressure was greatly increased compared with the awake state. Short-term nCPAP therapy significantly reduced systolic pressure from 144 +/- 3 mmHg to 137 +/- 3 and 143 +/- 4 mmHg during NREM and REM sleep, respectively, associated with a decrease in heart rate (from 69 +/- 2 to 65 +/- 2 beat.min-1). In total sleep and in all sleep stages a significantly reduced variability (p less than 0.001) was found. No changes were observed for diastolic pressure during CPAP night compared with baseline conditions.(ABSTRACT TRUNCATED AT 250 WORDS)

Blood Pressure Monitors↗
PubMed1978

Stiff-man syndrome associated with nocturnal myoclonus and epilepsy.

A case of stiff-man syndrome associated with primary generalised epilepsy is reported. In addition, nocturnal polygraphic recording revealed a nocturnal myoclonus. Detailed examination of the central nervous system did not show specific changes. There is no direct proof as to a spinal or supraspinal origin of the stiff-man syndrome. The absence of specific anatomical lesions may indicate a functional rather than a structural disturbance in its physiopathogenesis.

Brain↗