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Biomedical subjects

J Grippo

Publications and source records attributed to J Grippo.

At least 19 recordsLinked to original sources
PubMed2000

Vigabatrin as a first-choice drug in the treatment of West syndrome.

This is a prospective study designed to evaluate the efficacy and safety of vigabatrin as first-choice monotherapy in infants with West syndrome. One hundred sixteen patients with newly diagnosed West syndrome were studied in Argentina, from June 1994 to April 1998. The follow-up ranged from 17 to 40 months (mean, 23 months). Vigabatrin was administered upon diagnosis, starting with a 50-mg/kg/day dose and increasing 50 mg/kg every 48 hours to reach a maximum dose of 200 mg/kg/day. Twenty-nine percent of cases were considered to be cryptogenic or idiopathic West syndrome, while 70.7% were symptomatic. Response to vigabatrin treatment was measured according to five categories: (1) seizures free: 61.8% of cases for cryptogenic and 29.3% for symptomatic West syndrome, (2) more than 75% reduction in the number of infantile spasms: 14.7% for cryptogenic and 26.8% for symptomatic West syndrome, (3) from 50% to 74% reduction in the number of infantile spasms: 11.8% for cryptogenic and 24.4% for symptomatic West syndrome, (4) poor or null response: 11.8% for cryptogenic and 18.3% for symptomatic West syndrome, and (5) increase in the number of infantile spasms: one symptomatic case (1.2%). All seizure-free cryptogenic cases showed normal neuropsychic development. The most effective dose of vigabatrin was 150 mg/kg of body weight per day. The most frequent adverse events were somnolence in 19 cases and irritability in 15 cases, but none required treatment interruption.

Anticonvulsants↗
PubMed1998

Deletion patterns in Argentine patients with Duchenne and Becker muscular dystrophy.

The identification of mutations in Duchenne or Becker muscular dystrophy (DMD/BMD) patients is important for carrier detection in these families. We present the patterns of deletions of the dystrophin gene in Argentine population. DNA from 75 patients with DMD/BMD was analyzed by multiplex PCR and, in some cases, cDNA/Southern. Deletions were detected in 24 patients (32%) and were mainly clustered in two areas of the dystrophin gene: the 5' end (exons 3-12) and the central part (exons 44-53). 64% of the deletion endpoints lay in the middle region and 34% in the 5' end of the gene. The most frequent sites for deletion-endpoints were in the introns 47 (13.6%), 44 (11%), 2 (9%) and 12 (7%). Thus, the proportion and distribution of deletions in our DMD/BMD patients differ from those reported for other populations. Furthermore, a higher proportion of deletions was observed in familial cases (40%) than in isolated ones (30%), in contrast to previously reported data. The effect of the deletion on the reading frame agree with the phenotype in almost all the patients studied. This study will be useful in prenatal diagnosis and diagnosis of other Argentine DMD patients.

Adolescent↗
PubMed1998

Carrier detection in Duchenne and Becker muscular dystrophy Argentine families.

In order to offer carrier detection, genetic counseling, and prenatal diagnosis to families with Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) in our country, segregation analysis of highly polymorphic short tandem repeats (STR) (dC-dA)n: (dG-dT)n loci was utilized. The risks to females of 15 DMD BMD families (9 familial and 6 sporadic) were evaluated on STR, pedigree and serum creatine kinase (SCK) data. From the 36 females at risk of being carriers (not including 8 obligate carriers), results of STR analysis were compatible with carrier status in 7 and not compatible in 20. In 9 females, no information regarding carriership was derived from the STR analysis. Prenatal diagnosis is now possible on the carrier females. Previously identified deletions in the central part of the gene were confirmed by STR analysis in 3 families. Five new alleles were identified in Argentine individuals; allele frequencies differed from those of North American people. Results derived from this study are useful for carrier detection and genetic counseling in DMD/BMD. One case of probable mosaicism in an unaffected father was detected on a pedigree basis in a family with DMD patients.

Alleles↗
PubMed1996

[Treatment of the epilepsy: new drugs].

New advances in the knowledge on the physiopathogenesis of epilepsy and their relationship with sodium and calcium channels and with the excitatory and inhibitory neurotransmitters actions have recently been developed. These knowledges have produced the research on new antiepileptic drugs which action places have specially based on the known impaired mechanisms. As the conventional drugs, the new therapeutic tool have produced a great advance in the therapy of epileptic events, specially in the refractory seizures, which represent 25-30% of the whole group of epilepsies. In the present work, we review the new drugs, ones have been registered, in order to their pharmacological properties, their efficacy their safety and their clinical indications as first-election or adjuvant drugs. We also discuss their known side adverse effects.

Acetates↗
PubMed1991

Krabbe disease in monozygotic triplets.

The authors report an extremely rare case of monozygotic triplets with globoid cell leukodystrophy (Krabbe disease). Born to healthy, non-related, heterozygous parents, all three girls presented with typical signs of beta-galactocerebrosidase deficiency before one year of age and died within the first 41 months of life. The literature is briefly reviewed.

Biopsy↗
PubMedDate not supplied

[Transitory neurologic findings in risk children in the first year of life].

During the first year of life many infants born "at risk" present neurological findings, which vanish by the end of the first year. These neurological symptoms are found by using a neurological examination, which employs the principles of Prechtl 's neurological examination of the newborn. Using this kind of neurological examination, the neurology of transitory findings was studied in 40 infants "at risk" during their first year of life. Only infants "at risk" were selected, who presented finally normal psychomotor development at the end of the first year of life.

Brain Damage, Chronic↗
PubMedDate not supplied

[Mutism in children].

INTRODUCTION: Mutism is absence of verbal expression with conservation of language comprehension. The origin of mutism is multifactorial and may followed from cranial trauma surgery of the posterior fossa, acquired epileptic syndromes and psychogenic origin. OBJECTIVE: To refer patients who had presented mutism of diverse etiology. CLINICAL CASES: We analysed three children who had presented mutism originated by diverse causes. Case 1. A child with family and school problems, attention deficits and limited communication resources. Neurological examination and other auxiliary test (EEG) were normal. He presented no alteration in language or speech. We recommended the change of the school and a psychotherapeutic orientation. Case 2. A 4 year old female child who has suffered varicella 15 days earlier and presented limitations in her verbal expression despite maintain her linguistically capacity. She showed a indifferent behavior and her movements were without finality. Neurological examination was normal. The girl understood and followed instruction properly. However her verbal communication was absent. Total recuperation occurred in 72 hours. Case 3. A 12 years old child who had suffered a cranial traumatism with loss of consciousness ten days earlier. After this traumatism, he presented behavior changes, disorientation and blurred vision. Additionally he presented stereotypies and limitations in psychosocial connections. Despite his mutism, he conserved the structure and content of language. SPECT showed hypoperfusion in orbitotemporal region. Improvement was total 20 days after his traumatism. CONCLUSIONS: The mutism has multifactorial etiology. References were made to three cases who's mutism was related to emotional causes, post-varicella complications and posttraumatic events.

Attention Deficit Disorder with Hyperactivity↗
PubMedDate not supplied

[Limbic system and partial seizures with psychoaffective signs].

INTRODUCTION: The limbic system, is associate to emotional behavior. Partial epileptic seizures are the expression of alterations of the temporal lobe, hippocampus and amygdala. In nonconvulsive episodes, autonomic alterations, visceral dysfunction and abnormal emotional states illustrate epileptic symptomatology. Fear responses, with possible connections to amygdala are presents in partial epileptic seizures. CLINICAL CASE: We present five patients with symptomatology mainly in emotional expression. Four had a structural lesion: one, multiple phacomatosis, two, tumors of the amygdala region (ganglioglioma) and one, a pineal cyst. The fifth child lacking a structural lesion, showed spike waves in the temporal lobe. CONCLUSION: It is essential to search for structural or functional alterations in patients with paroxysmal fear reactions, as probable partial crisis with psychoaffective manifestation.

Adolescent↗