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Biomedical subjects

J Narbona

Publications and source records attributed to J Narbona.

34 records · Page 2Linked to original sources
PubMed1981

[Intracranial arteriovenous malformations in childhood. A revision of 25 cases (author's transl)].

Clinical features of A-V intracranial malformations during infancy, childhood and adolescence are reviewed on this series of 25 less-than-15-years-old patients. Great cirsoid malformations (2 cases) and aneurysms of the vein of Galen (2 cases) may cause diffuse brain-steal-ischaemia, hydrocephalus and congestive heart failure in early ages, event at birth. The clinical manifestations of brain angiomas rather begin from the fifth year of life. Little sized angiomas cause preferentially intracranial haemorrhagic attacks (17 of 21 cases in this series). Middle sized racemic angiomas cause focal seizures and/or focal neurologic signs. In 5 patients an intracranial bruit of a great diagnostic value was present. Combining brain radioisotopic studies, brain C.A.T. and angiography near 100% of intracranial A-V malformations can be diagnosed early after clinical suspicion.

Adolescent↗
PubMedDate not supplied

[Rett syndrome as a hodogenesis disorder].

In the last few years, Rett syndrome is conceived as a peculiar form of neurodevelopmental post-migrational disorder affecting dendritogenesis. In this article the clinical pathochronic pattern of classical forms is reviewed and the recent neurobiological and genetic evidences suggesting possible future explanations of its nature and origin are discussed.

Child, Preschool↗
PubMedDate not supplied

[Tuberous sclerosis. Apropos of 22 cases].

A retrospective study on twenty two cases with tuberous sclerosis, from 1972 to 1994, is done. It is also reviewed national and international literature, emphasizing epidemiologic, clinical, radiological, genetic and therapeutic aspects, as well as diagnosis and prognosis.

Adolescent↗
PubMedDate not supplied

[Executive system: a conceptual review and its study in children with attention deficit hyperactivity disorder].

OBJECTIVES: To review the different concepts and definitions of the executive system (ES) and its relationship with attention and working memory. To apply these concepts to the theories about executive dysfunction in children with attention deficit hyperactivity disorder (ADHD). DEVELOPMENT: A functional and terminological definition about ES is made considering previous theories and mainly based on the theory of the control of the action. The concepts of working memory and attention are defined and their relationship with the ES is analysed. The evidence of executive dysfunction in children with ADHD is described and recent hypothesis on the nature of the neuropsychological key deficit of the disorder are discussed. CONCLUSIONS: There is a lack of an universally accepted theory about the executive system function, although there is an agreement between different authors in considering that it involves the cognitive processes needed for complex, novel and aimed actions. Attention is a function that is different from the ES, but it is required for the ES functioning. Working memory is one of the most important components of the ES, but it does not account for the whole concept of ES. Although the characteristic pattern of ES dysfunction in children with ADHD is still unknown, there are some recent evidences showing that they have specific difficulties in behavioral inhibition.

Attention Deficit Disorder with Hyperactivity↗
PubMedDate not supplied

[Genetic studies in communication disorders].

OBJECTIVES: To review current literature on population, cytogenetic and molecular studies of specific language disorders (SLD) and pervasive developmental disorders (PDD). DEVELOPMENT: Clinical concordance studies in twins and in vertical familial groups suggest polygenic multifactorial modes of inheritance, but in some families an autosomal dominant model may be present. The data favour not a modular, but rather a molar model of the relationship between genes and neural abilities for communicative behaviors. Several extensive genome screenings have demonstrated linkage to specific markers on 7q for SLD, and on 7q and 2q for PDD. The strong evidence of linkage on 7q for both disorders has led to the hypothesis that this region contains several separate quantitative trait loci (QTL) related to different communicative abilities. Mutations in different QTL would facilitate the different disabilities and stereotyped behaviors associated with the phenotypic spectrum of PDD. There are other candidate regions for QTLs but the linkage is weaker and there is little agreement between studies; due, in part, to over extensive inclusion criteria and small sizes of familial groups. CONCLUSIONS: To enhance linkage research in further molecular genetic studies, clinicians must refine behavioral target traits when selecting familial groups and enlarge the size of familial groups by including non handicapped members with related behavioral traits. At present, a chromosome region in 7q shows the strongest evidence for communication related QTL, but other QTL need to be identified elsewhere in the genome in order to explain the genetic contribution to the large spectrum of language and autistic disorders.

Autistic Disorder↗
PubMedDate not supplied

[Executive system and frontal lobe lesions in childhood].

INTRODUCTION AND DEVELOPMENT: Frontal lobe syndrome in adulthood is characterised by executive function deficits leading to altered behavioural control with difficulties in social interactions and in maintaining stable jobs and interpersonal relationships. Generalisation of this concept to children with early frontal lobe damage is not straightforward. There are complex interactions between the effects of the lesion itself and the effects in other interconnected regions, timing of lesion, how long it was since the lesion occurred to the time of evaluation, and how old the child is at examination. These facts lead to consider that there might be a number of 'frontal syndromes' in childhood rather than a unique one. We report 9 cases of children with early frontal lobe lesions who were followed up for an average of 10 years. CONCLUSION: A variety of different outcomes suggests that prognosis for these patients might be better that previously reported.

Adult↗
PubMedDate not supplied

Glycogenosis with amylopectinoid deposits in a 13-year-old girl.

We present a clinical study and muscle biopsy of a 13-year-old female who suffered hypertrophic cardiomyopathy, hepatosplenomegaly and myopathy of prolonged evolution. The muscle biopsy showed a glycogenosis with deposits of amylopectin-like material. Differential diagnosis was made with basophilic degeneration of the myocardium, and with "polyglucosan bodies disease." In the existing literature we found only one case of juvenile amylopectinosis, and another four adult cases.

Adolescent↗