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L Sacre

Publications and source records attributed to L Sacre.

21 records · Page 2Linked to original sources

Neonatal myotubular myopathy with a probable X-linked inheritance: observations on a new family with a review of the literature.

During the 3 weeks of his life, an infant born at term presented pronounced hypotonia, areflexia and generalized paresis with severe respiratory and feeding problems. He was the fourth male in two generations to die in the perinatal period, therefore suggesting an X-linked inheritance. Post-mortem examination revealed a centronuclear or myotubular myopathy. The difficulty in distinguishing the signs due to muscle disorder from those due to hypoxaemic encephalopathy is stressed. Infants with centronuclear myopathy have in any case a high risk for hypoxaemic encephalopathy. The literature concerning neonatal centronuclear myopathy with X-linked inheritance is reviewed.

Biopsy↗

Incidence of gastroesophageal reflux in sleep, awake, fasted, and postcibal periods in asymptomatic and symptomatic infants.

The incidence of gastroesophageal reflux (GER) in infants has been shown to be dependent on different factors, e.g., position, feeding, age. Using continuous esophageal pH monitoring, we examined 30 asymptomatic (15 were 1.5-2.5 months old; 15 were 2.5-4.5 months old) and 20 symptomatic infants (1.5-4.5 months old) for GER. The occurrence of GER was analyzed in different periods of interest: awake, asleep, fasted, and postcibal periods. The increasing incidence of GER we reported previously in asymptomatic infants according to their age appeared to be due to an increased occurrence in the awake (and postcibal) periods. In symptomatic infants, however, the increase was noticed mostly during the sleep (fasted) periods as far as the reflux index, the duration of the longest reflux episode, and the number of reflux episodes of greater than 5 min are concerned.

Eating↗