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Biomedical subjects

D Luna

Publications and source records attributed to D Luna.

16 recordsLinked to original sources
PubMed2005

Bilateral lacrimal sac mucocele with punctal and canalicular atresia.

Congenital absence of lacrimal puncta may be an isolated finding or associated with other developmental abnormality. Nasolacrirnal ducts can be absent thus predisposing to the formation of a congenital lacrimal mucocele. Punctal and canalicular agenesis is very rare. Four percent of new patients attending the lacrimal clinic at Moorfields Eye Hospital, London, UK. from 1981 to 1990 inclusive were diagnosed to have this condition. We describe a case of bilateral congenital absence of lacrimal puncta with lacrimal mucocele. Combined surgery was carried out by Ophthalmologist and Otolaryngologist with successful results.

Adolescent↗
PubMed2000

Genome search for susceptibility loci of common idiopathic generalised epilepsies.

Genetic factors play a major role in the aetiology of idiopathic generalised epilepsies (IGEs). The present genome scan was designed to identify susceptibility loci that predispose to a spectrum of common IGE syndromes. Our collaborative study included 130 IGE-multiplex families ascertained through a proband with either an idiopathic absence epilepsy or juvenile myoclonic epilepsy, and one or more siblings affected by an IGE trait. In total, 413 microsatellite polymorphisms were genotyped in 617 family members. Non-parametric multipoint linkage analysis, using the GeneHunter program, provided significant evidence for a novel IGE susceptibility locus on chromosome 3q26 (Z(NPL) = 4.19 at D3S3725; P = 0.000017) and suggestive evidence for two IGE loci on chromosome 14q23 (Z(NPL) = 3.28 at D14S63; P = 0.000566), and chromosome 2q36 (Z(NPL) = 2.98 at D2S1371; P = 0.000535). The present linkage findings provide suggestive evidence that at least three genetic factors confer susceptibility to generalised seizures in a broad spectrum of IGE syndromes. The chromosomal segments identified harbour several genes involved in the regulation of neuronal ion influx which are plausible candidates for mutation screening.

Chromosomes, Human, Pair 14↗
PubMed1996

Stiparin: a glycoprotein from sea cucumber dermis that aggregates collagen fibrils.

The interactions between collagen fibrils in many echinoderm connective tissues are rapidly altered by the secretions of resident neurosecretory cells. Recent evidence has suggested that a secreted protein is responsible for the interactions that lead to an increase in tissue stiffness (Trotter and Koob, 1995). Structurally intact collagen fibrils have been isolated from such a connective tissue- the dermis of the sea cucumber Cucumaria frondosa- and used in an assay in vitro to identify a protein that binds to them and causes them to aggregate. This protein has been purified by anion-exchange and molecular sieve chromatography. It is eluted from a MonoQ column at approximately 0.55 M NaCl. Its isoelectric point is 5.2. It elutes from a Superose-6 column in a position corresponding to a molecule with a Stokes radius of 11.5 nm. Its native molecular weight estimated from sedimentation equilibrium analysis under non-denaturing conditions is 375,000, and its monomer molecular weight, estimated by polyacrylamide gel electrophoresis in the presence of sodium dodecyl sulfate, is approximately 350,000. Sedimentation velocity measurements indicated for the native molecule a sedimentation coefficient of 11 x 10(-13)s, a diffusion coefficient of 3.274 x 10(-7) cm2s-1, and a frictional ratio of 1.95, which corresponds to a prolate ellipsoid of revolution with an axial ratio of 19. The highly asymmetric structure suggested by the above correlated well with the images obtained by transmission electron microscopy following rotary shadowing, which revealed a flexible structure approximately 125 nm long. Based on its ability to aggregate collagen fibrils, this protein has been named "stiparin," from the Latin stipare, "to pack together."

Animals↗
PubMed1996

Aortobronchial fistula secondary to chronic post-traumatic thoracic aneurysm.

A few patients with traumatic aortic laceration remain undiagnosed and survive long enough to develop a chronic aneurysm. Such aneurysms are frequently asymptomatic; alternatively, they may manifest themselves in the form of chest pain, dysphonia, dysphagia, bronchial irritation, or sudden death. A case of aortobronchial fistula secondary to a chronic post-traumatic aneurysm of the aortic isthmus is presented. Hemoptysis was the main sign. The affected segment of the thoracic aorta was replaced with a Dacron graft and a left superior lobectomy was performed. Nevertheless, the patient died during the postoperative period due to adult respiratory distress syndrome. Pathogenesis, diagnosis, and management of aortobronchial fistulae are discussed.

Adult↗
PubMed1991

Vigabatrin in childhood epilepsy.

Sixty-six children with various types of severe drug-resistant epilepsy were entered into a long-term, dose-rising study of vigabatrin after a 4-week run-in placebo period. All the children were receiving one to three other antiepileptic drugs, the doses of which were not changed during the 6-month dose titration phase. Following the introduction of vigabatrin, 11 patients became seizure free, and 28 responded with a greater than 50% reduction in seizure frequency. The following types of epilepsy responded favorably in order of decreasing efficacy: cryptogenic and symptomatic partial epilepsy, other symptomatic generalized epilepsy, and Lennox-Gastaut syndrome. However, three of nine patients with myoclonic epilepsy showed an increase in seizure frequency. Optimal responses were found with vigabatrin doses of 40 to 80 mg/kg/day, although no significant adverse effects were noted with doses of higher than 100 mg/kg/day. Thirty-eight responders continued on vigabatrin, 19 of whom have been treated for more than 1 year, with generally good efficacy. As a result of discontinuing concomitant antiepileptics, six patients are on monotherapy with vigabatrin, four of whom are seizure free. Vigabatrin tolerability was good, with 39 of 66 children reporting no adverse effects. Hyperkinesia was reported in 17 patients (26%), and two had to drop out of the study. All these patients had a history of hyperkinesia or mental retardation. In patients in whom vigabatrin dose was reduced because of hyperkinesia, a dose increase could later be instituted without recurrence of symptoms. There was no change in neurologic examination and no drug-related abnormalities in clinical laboratory data.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMed1990

Processing dominance of global and local information in visual patterns.

The processing dominance of global and local levels of visual patterns was studied using two tasks: speeded classification and identification. Stimuli were presented with spatial certainty and controlled eccentricity. The results with both procedures showed global advantage: RTs to global level were faster than those to local level. In the same way, the interference effect was bidirectional between the global and local levels, the amount of interference being larger from the global level to the local one than vice versa.

Adult↗
PubMed1990

[Delayed acute measles encephalitis].

Delayed acute encephalitis is a rare complication of measles that may occur either in immunodepressed patients or in patients without overt immunodepression. In the present series of 8 cases, diagnosis was made on CSF/serum measles antibody titre and/or intranuclear paramyxovirus nucleocapsides identified by electron microscopy in the central nervous system cells. The disease is characterized by the association of focal defects (monoparesis, hemiparesis, aphasia, a.s.o.) with periodic myoclonic jerks without major impairment of consciousness. The encephalitis lasted 2 to 4 weeks and 3 patients died. With the exception of 1 case, all the patients had severe sequelae after a follow-up of 1 to 9 years. The EEG showed diffuse polymorphous delta waves, with a predominance on the side opposite to the myoclonias and pseudoperiodic complexes in all cases. CT scan was abnormal in 4 of 6 cases, showing hypodense areas. Antiviral or immunogenic therapeutic trials were administered to 5 patients without clear improvement. Sensitive methods of antibody dosage seem to be useful for the early diagnosis of the disease.

Acute Disease↗
PubMedDate not supplied

Vigabatrin in the treatment of childhood epilepsies: a single-blind placebo-controlled study.

Sixty-one pediatric patients (12-229 months of age) with refractory epilepsy were treated with vigabatrin [gamma-vinyl GABA (GVG)] in a 16-week, single-blind, add-on, placebo-controlled trial. Twenty-three patients (38%) showed a reduction of more than 50% in seizure frequency; 12 patients (20%) experienced a seizure increase; and the remaining 26 did not show significant differences between placebo and GVG treatment. Among the 216 patients who entered the long-term phase after having experienced more than 50% decrease in seizure frequency, 14 continued with the same degree of improvement after 2-11 months of follow-up (mean 7.7). GVG was particularly efficient in cryptogenic partial epilepsy. Conversely, nonprogressive myoclonic epilepsy tended to be aggravated. Agitation was the most commonly observed side effect, mainly at onset of therapy in mentally retarded patients, but was easily reversed by dose reduction. GVG is a promising drug in the treatment of refractory epilepsies of childhood.

4-Aminobutyrate Transaminase↗
PubMedDate not supplied

Ictal characteristics of cryptogenic partial epilepsies in infancy.

Twenty-three patients with onset of partial seizures (PS) during the first 2 years of life were collected in a single neuropediatric center and ictal events were analyzed. All patients initially had normal developmental and neurologic examinations, negative etiologic investigations, and at least two nonfebrile PS of a single type. Mean follow-up from first seizure to the last contact with the patient was 51 months (SEM 8.17 months). Ictal semiology was characterized by three types of seizures: simple PS with motor signs, complex partial seizures (CPS) with impairment of consciousness at onset followed by motor manifestations, and CPS with motor activity at onset. Versive phenomena, oroalimentary automatisms, and vegetative manifestations were frequently associated. The topography of the ictal discharges and the elementary ictal events, suggested involvement of the temporal lobe and somatomotor area. The diagnosis of PS can be difficult during the first year of life since some patients beginning with generalized seizures may evolve into partial seizures. The prognosis is guarded with regard to seizure persistence, but the neurologic outcome is better as a whole than is reported for infancy-onset epilepsies.

Aging↗
PubMedDate not supplied

[Neurological aspects of ceroid-lipofuscinoses].

OBJECTIVE: We discuss the historical, epidemiological, clinical, complementary tests and neuropathological details of ceroid-lipofuscinoses in children. DEVELOPMENT: Initially, we review the basic concepts and historical details of the disorders, and the frequency and distribution of the different clinical forms. Subsequently, we review the subtypes and variants most commonly found in children, together with the elements necessary for diagnosis. Finally we analyze the neuropathological studies and their clinical correlation. CONCLUSIONS: The clinical diagnosis of ceroid-lipofuscinoses should be based on a clinical history showing disorders of vision, convulsions and regression of psychomotor functions. Neuroimaging findings, neurophysiological changes and ultrastructural studies confirm the diagnosis.

Brain↗
PubMedDate not supplied

[Prolonged bradyarrhythmias after coronary revascularization surgery].

The authors report four cases of prolonged bradyarrhythmias after isolated coronary artery bypass graft surgery. All the four patients required permanent pacemaker implantation. Etiologic factors of conduction disturbances after coronary artery bypass and long term follow-up are discussed.

Aged↗