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Biomedical subjects

R Carbajal

Publications and source records attributed to R Carbajal.

46 records · Page 3Linked to original sources
PubMed1993

[Deficiency in medium chain acyl coA dehydrogenase manifested as febrile coma].

A 21-month-old infant developed coma with hypotonia during a viral infection. Acyl CoA dehydrogenase deficiency was diagnosed on the basis of results of the chromatographic study of organic acids performed on a urine specimen collected during the acute episode. However, other disorders of mitochondrial and fatty acid oxygenation can generate similar symptoms. Emphasis is put on the need for collecting urine specimens in patients who develop alterations in consciousness and hypoglycemia without ketonuria during prolonged fasting or repeated vomiting due to a viral infection. Urine chromatography can suggest which enzyme is defective, although the diagnosis should always be confirmed by a study of fatty acid oxygenation in lymphocytes or fibroblasts.

Acyl-CoA Dehydrogenases↗
PubMed1992

[Cerebral embolism revealing aneurysm of the interauricular septum].

BACKGROUND: Aneurysm of the interatrial septum is a potential cause of systemic embolism, but it is rarely responsible for a cerebral embolism in childhood. CASE REPORT: A girl, aged 14 years, presented with a sudden right hemiplegia. The coagulation factors were normal, as was the CSF. The CT scan was normal and the EEG showed some theta waves (3-4/s) on the left temporal lobe. MRI, performed 6 days later, showed ischemic lesions leading to a search for the origin of the embolism. One-dimensional echocardiography revealed no abnormality, but two-dimensional echocardiography showed an aneurysm of the interatrial septum bulging into the right atrium. The child was treated with low doses of acetylsalicylic acid, but still had a moderate degree of spastic hemiplegia one year later. CONCLUSION: Cardiopathies can be among the causes of cerebral embolism in children. An aneurysm of the interatrial septum requires treatment throughout patient's life.

Adolescent↗
PubMed1992

[The fate of very early premature babies. Mortality, morbidity and 2-year follow-up in a population of 96 very early premature babies].

The neonatal fate, and outcome at 2 years in a population of 96 premature babies born after no more than 28 weeks of amenorrhea is described. Mortality was directly influenced by the gestational age (< 26 WA = 52% vs. > or = 26 WA = 21.1%, p < 0.01) and the birth weight (< 1,000 g = 41.5% vs. > 1,000 g = 20%, p < 0.05). Two other factors with a harmful impact were identified: retarded growth (neonatal mortality doubled) and fetal multiplicity (increased fourfold). Investigation of the neonatal morbidity highlights the importance of respiratory, neurological and digestive problems. Assessment of the longer-term outcome has shown an 11.3 p. cent incidence of handicap. An estimation of the prognosis on the basis of gestational age is proposed.

Apgar Score↗
PubMed1991

[Hydrops fetalis associated with Noonan syndrome].

A case of Noonan syndrome associated with hydrops fetalis has been reported; it is recalled that morphological anomalies common to both Turner and Noonan syndromes depend on similar lymphatic anomalies. In the present case it is therefore proposed that the malformations of Noonan syndrome and hydrops fetalis proceed from the same lymphatic anomalies.

Female↗