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Biomedical subjects

P DeMarco

Publications and source records attributed to P DeMarco.

14 recordsLinked to original sources
PubMed1992

Tuberous sclerosis, agenesis of the corpus callosum and Lennox-Gastaut syndrome: mere chance or a new syndrome?

The relationship between tuberous sclerosis (TS) and epilepsy on one hand and between agenesis of the corpus callosum (ACC) and epilepsy on the other has been recognized for a long time. Until now, a syndrome characterized by TS, ACC and Lennox-Gastaut syndrome (LGS) has not been described in the literature. Three cases of children, all young male patients, who suffer from TS, ACC and LGS, were presented. The ACC was total in two cases and partial in the third. None of the subjects previously had West syndrome. Two cases showed a slight degree of mental deficiency, while in the third it was very pronounced. In all subjects tonic and astatic seizures were frequent. Antiepileptic therapy improved the clinical picture in one case, while in the other two it remained unchanged.

Adolescent↗
PubMed1992

Full-spectrum cone sensitivity functions for X-chromosome-linked anomalous trichromats.

We derived the cone fundamentals for X-chromosome-linked anomalous trichromats for the wavelength range of 400-700 nm. Pigment templates were constructed from the cone fundamentals of normal trichromats after correction for ocular media absorption. The resultant retinal-level sensitivities had small irregularities in the short-wavelength region that were smoothed. The pigment templates, expressed as quantal sensitivities, were then shifted on a frequency abscissa to solve for the lambda max of the pigments of anomalous trichromats needed to predict average anomaloscope matching data. We found that the protanomalous M- and L'-cone pigments are separated by 10 nm and the deuteranomalous M'- and L-cone pigments are separated by 6 nm (rounded to the nearest nanometer), where M and L indicate middle- and long-wavelength sensitive, respectively. The triads of peak wavelengths for the corneal energy-based sensitivities were as follows: normal: 440, 543, and 566 nm; protanomalous: 440, 543, and 553 nm; and deuteranomalous: 440, 560, and 566 nm.

Adult↗
PubMed1990

Growing bilateral occipital calcifications and epilepsy.

Recently presented data have allowed us to detect an increasing number of cases which present bilateral occipital calcifications and epilepsy or migraine. They have been indicated for the most part to have atypical forms of Sturge-Weber disease without facial nevus flammeus. Two pediatric patients are dealt with here, who, while presenting some differences from the electroclinical point of view, are characterized by typical cortico-subcortical bilateral occipital growing calcifications. Generally, other authors consider the first phase of this syndrome to comprise benign development; only in a second phase does worsening of the fits follow, as well as a bad prognosis. On the contrary, in our case up to now, the patients have been well; the seizures are under control with AEDs and EEG has not worsened, in spite of growing occipital calcifications.

Brain↗
PubMed1990

Reflex petit mal absence?

The importance of tactile somatosensory stimuli as a triggering mechanism in provoking epileptic seizures is widely acknowledged. These seizures are mostly partial ones with secondary generalization, but may also be, rarely, primary generalized seizures. Up to now, no case of petit mal absence, triggered by somatosensory stimuli, has been described. The subject of this report is a 15-month-old girl, who for a period of 3 months presented absence induced by finger tapping on her forehead or in the parietal region; the duration of the attacks ranged from 6 to 12 seconds. The EEG showed a characteristic pattern of diffuse discharges of 3 Hz/sec spike and wave complexes. During this critical period, the child was well, except for the seizures. Possible mechanisms for triggering this type of seizure are discussed.

Child, Preschool↗
PubMed1989

Eyelid myoclonia with absences (EMA) in two monovular twins.

EMA (eyelid myoclonia with absences) consists of brief seizures triggered by eyelid closure and characterized by absence and palpebral myoclonia. The EEG shows brief discharges with 3 per second spike and wave complexes. The present report describes the cases of 2 monovular twins who started to have this form of epilepsy at the age of 4 1/2 years. Their seizures, after 2 years of follow-up, are greatly reduced with combined therapy of valproic acid and benzodiazepines (Clobazam).

Child↗
PubMed1988

Electrical status epilepticus during slow sleep: one case with sensory aphasia.

Electrical status epilepticus during slow sleep (ESES) is characterized by an EEG picture that justifies its name. It can be accompanied by epileptic seizures, speech and behavior disturbances and in rare cases by an acquired sensory aphasia. We describe the case of a six-year-old girl, whose EEG presented the typical ESES picture, and who in the span of one year developed a complete sensory aphasia, followed by motor aphasia. After 6 months of treatment with clobazam recovery of speech was nearly complete, but after 8 months clobazam lost its effectiveness and the girl presented a speech regression. Treatment with nitrazepam led to a complete recovery of speech for a second time, while at the same time ESES in the EEG again disappeared. This case, in addition to others described in the literature, suggests the possibility of a direct correlation between electrical abnormalities of the brain and cognitive and speech disturbances.

Aphasia↗
PubMed1986

Allopurinol and severe epilepsy.

Forty-one epileptic and not hyperuricemic subjects, aged 2 to 54 years, had epileptic seizures, ranging from 1 to 220 weekly (mean = 21.3). All seizure types were represented. They were already medicated with two or three antiepileptic drugs with plasma drug concentrations maintained in therapeutic range. They were treated with allopurinol in doses ranging from 150 to 300 mg daily. After 20 to 35 days of this regimen, a progressive decrease of the weekly seizure frequency was observed in two-thirds of the cases. After a follow-up of 3 to 9 months, seizures disappeared completely (22%) or decreased more than 50% (47%). Twenty-five percent of subjects continued to have the same seizure frequency, while about 6% were worse than before.

Adolescent↗
PubMed1986

Parietal epilepsy with evoked and spontaneous spikes: report on siblings with possible genetic transmission.

The group of benign infantile epilepsies "with evoked spikes" is not unusually genetically transmitted. Only 2 out of 31 cases of parietal epilepsy "with evoked spikes" are siblings. In this study, we present the clinical and EEG characteristics of a brother and sister who suffer from this rare form of epilepsy, and those of their younger sister, not epileptic, who shows "podalic" evoked spikes. An older sister has spontaneous spikes but no seizures. These phenomena are not found in their parents. The two siblings show a very similar clinical and EEG evolution; in fact, both suffered initially from parietal epilepsy "with evoked spikes" and, after two years of this form, they developed temporo-central (or rolandic) epilepsy "with evoked spikes" that still persists. Their intellectual development is normal, but their scholastic performance is rather poor. The youngest sister, who presents only evoked "podalic" spikes, has a normal intellectual development. One of the most accepted hypotheses as to the nature of evoked spikes is that in a particular period of childhood an area of cortical functional deafferentation occurs, which disappears with further maturation of the central nervous system.

Child↗
PubMed1985

The benign infantile epilepsies with evoked spikes.

The International Classification of the Epilepsies defines two types of generalized epilepsies: primary (mainly functional) and secondary (organic) and only one type of partial epilepsy, (organic). Recent studies show the existence of a group of "functional" or "mostly functional" partial epilepsies. Among these, a particular place is occupied by the benign infantile epilepsies "with evoked spikes," described during the last 10 years. These are forms with a very particular development, characterized in all cases by 4 typical phases; the last one is the clinical phase with epileptic seizures. The prognosis is very good. The discussion concerns the similarities and the differences between these epilepsies versus the other partial benign epilepsies.

Child↗
PubMed1982

A particular evolution of two cases of somatosensory spike epilepsy.

"Somatosensory spike epilepsy" is still little known, except in highly specialized places, because of two factors: 1) it is rare (the incidence in our experience is one case in 1,000 new EEGs); 2) the evoked spikes, that constitute the first sign for the evolution of the syndrome, are not systematically sought, and many months can pass before finding one "positive" cases. The evolution of a "positive" case towards epilepsy is represented by a 15% possibility. In this report we present two unique cases of this syndrome; they are of interest because they constitute the first such cases in the literature and also because of the neurophysiological problems that they reveal. The cases are represented by an eight year old girl and by an eleven year old boy, who suffered from the typical form of "sensitive spike epilepsy" characterized by its classical evolution in four stages, with a clinical phase of about one year. Two years after the cessation of previous seizures, they presented a new "bouffee" of partial motor seizures. The EEG abnormalities were in the parietal parasagittal region the first time, while they were situated in the temporoparietal region in the second time. The somatosensory spikes were evoked from the foot the first time and from the fingers the second time. In the second case the trigger zones were only on the left side of the body.

Carbamazepine↗
PubMed1975

The action of staphylococcal nuclease (EC-number 3. 1. 4. 7.) on thymus nucleohistone (TNH) and on some nucleoprotamines.

The biphasic nature of the time course of the action of staphylococcal nuclease on thymus nucleohistone was confirmed by studying the hydrolysis of this nucleoprotein at various enzyme concentrations. The transition from the rapid first to the sluggish second phase of the time course was particularly distinct at the highest enzyme concentrations. The rapid initial phase of the hydrolysis curve leveled off sharply when between 60 and 65 per cent of the total TNH phosphorus had been converted to acid-soluble phosphorus compounds. The insoluble complexes of TNH with protamines were found to be very resistant against the action of staphylococcal nuclease. The time course of the action of staphylococcal nuclease on a commercial nucleoprotamine of salmon testicles was found to become very sluggish when between 35 and 40 per cent of its total phosphorus had been converted to acid-soluble phosphorus compounds. When nucleoprotamines prepared in the laboratory from the secreted sperm cell suspension of Brown Brook Trout were digested with staphylococcal nuclease, only between 15 and 20 per cent of the total phosphorus were cleaved to acid-soluble phosphorus compounds during the rapid phase of the nuclease action. The respective values for the phosphorus fractions available for magnesium-binding and those susceptible to the rapid cleavage by staphylococcal nuclease were found to be very similar.

Animals↗
PubMedDate not supplied

Allopurinol as add-on therapy in refractory epilepsy: a double-blind placebo-controlled randomized study.

The antiepileptic effect of allopurinol was assessed in a double-blind, randomized, placebo-controlled, cross-over trial in 84 patients with epileptic seizures refractory to standard antiepileptic drugs (AEDs). During a retrospective baseline period, patients experienced at least four seizures of any type per month. The effects of allopurinol and matching placebo were examined for 4-month periods. Allopurinol dosage was 150 mg daily for children weighing < 20 kg and 300 mg daily for other patients. Efficacy analysis based on the Wilcoxon rank-sum test was conducted for the 80 patients who completed the study. No significant period effect or treatment-period interaction was noted. Allopurinol significantly reduced total seizures (p = 0.005), and secondarily generalized seizures (p = 0.0015). Median seizure reduction for total seizures was 10.5 and 27.9% for secondarily generalized seizures. Subjective preferences by clinicians evaluated blindly significantly favored allopurinol. No significant change occurred in the plasma concentration of concomitant AEDs between treatment periods, but serum urate decreased by 32% during allopurinol treatment. No clinically relevant side effects or changes in routine laboratory clinical chemistry or hematology were ascribed to allopurinol.

Adolescent↗
PubMedDate not supplied

The offset V modification of the Chevron bunionectomy: a retrospective study.

This is a retrospective study of two different types of fixation for the offset-V modification of the Chevron (Austin) bunionectomy for correction of hallux abducto valgus deformity. Both screw fixation and Kirschner wire fixation were evaluated radiographically for hallux abductus angle, intermetatarsal angle, proximal articular set angle, tibial sesamoid position, and first metatarsal length. In addition, charts were reviewed for complications selective to each type of fixation. Radiographically, there was no apparent difference in preoperative and postoperative measurements between the two types of fixation. However, chart review led the authors to conclude certain advantages to screw fixation, in terms of clinical results and patient satisfaction.

Bone Screws↗