Biomedical subjects
Publications and source records attributed to L Troncoso.
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Genetic variation of 18 loci detected in 13 Chilean and one Argentinian population of the toad Pleurodema thaul are described. Seven loci were polymorphic in at least one of the studied populations. The average heterozygosity values observed for locus went from H = 0.00 for the Las Cardas population to 0.114 in the Lautaro locality, with a global average of 5.2%. The genetic similarity values gave an average of 0.875 (range 0.726-1.00). Accordingly, similarity values were possible to distinguish three groups: north, central and Osorno. The Osorno population differed from the central group in Est-1 and Est-2, yet the Osorno population is only 20 km from a population of the central group.
Ten infants with infantile spasms (IS) and hypoarrhythmic EEG, received 0.5 mg i.m. of synthetic ACTH, three times a week for 2 weeks. Six of them showed complete remission of seizures and dramatic EEG changes, and 3 cases resulted in a partial response. Spasms were controlled during the first week in 5/6 cases where treatment was successful. A significant relationship was observed between treatment precocity and favourable outcome (Fisher p < 0.02). Synthetic ACTH treatment did not produce severe side effects in any patient. During follow up (X 6.2 m) relapse occurred in one case, with 5 patients maintaining the initial positive response and a normal or mildly retarded psychomotor development. The other five patients show severe psychomotor retardation and intractable spasms and/or other seizures. Future research should focus on the efficacy of other treatment schedules, equilibrating success and side effects.
A systematic clinical protocol was applied in 16 infants that suffered from infantile spasms (IS) in order to identify etiologic factors. A positive family history was present in 2/16 patients and relevant perinatal or postnatal pathology in 5/16. Psychomotor retardation and other seizures anteceded IS in 10/16 and 8/16 infants respectively. Physical and neurologic examination revealed microcephalia (4/16), dysmorphic features (2/16), hypopigmented skin lesions (1/16) and pyramidal syndrome (8/16). Neuroimaging technics yielded positive findings in 9/16 patients, diffuse or localized atrophy (7/16), porencephalic cysts (3/16), periventricular calcifications (1/16), callosal agenesis (1/16). Laboratory examination allowed diagnosis of two metabolic diseases: congenital hyperlactatemia an maple syrup urine disease. Two patients were classified as cryptogenetic and fourteen as symptomatic. Within the latter an etiologic factor was identified in 12/14. This study underlines the value of etiologic search in IS, because it may contribute substantially to specific treatment and genetic counselling.
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