Recently, lyso-globotriaosylsphingosine (lyso-Gb3) was found to be elevated in plasma of treatment naive male patients and some female patients with Fabry Disease (FD). This study tested whether lyso-Gb3 could be analyzed in dried blood spots (DBS) from filter cards and whether concentrations are elevated in newborn infants with FD. Lyso-Gb3 concentrations were analyzed in DBS following extract...

By the term 'cyanotic attacks in newborn infants' I mean sudden attacks of cyanosis, lasting from a few moments up to half an hour, in children whose colour was previously normal, and whose colour returns to normal in atmospheric air after the attack. I do not include the sudden development of cyanosis in a baby who remains blue until death. In an extensive search of the literature I was unable...

Although neonatal retinal haemorrhage is a common pathological finding in about 20 per cent. of newborn infants, the cause of this condition is still not well understood. Jager (i86i) is generally accepted as the first author to have reported the condition. Estimates of its incidence have varied from 2 -6 to 50 per cent. (Duke-Elder and Dobree, I967). Chace, Mlerritt, and Bellows (1950), in a s...

OBJECTIVE The aim of this study is to evaluate possible pathologies associated with hyperechogenicity of thalamic vessels (HETV), which are found on brain ultrasounds (BUS), as well as to observe the frequency of their occurrence. METHODS The sample was composed of 206 preterm newborn infants at Hospital de Clínicas de Porto Alegre (HCPA) from July 1998 to May 1999. All of them were submitted...

OBJECTIVE The prevalence rate of all types of limb reduction defects in general and those that potentially are caused by vascular disruption in particular is needed to provide a baseline for the evaluation of infants who are exposed in utero to teratogens that cause vascular disruption. The objective of this study was to determine this prevalence rate. METHODS All infants with any limb defici...

Newborn infants must rapidly adjust their physiology and behavior to the specific demands of the novel postnatal environment. This adaptation depends, at least in part, on the infant's ability to learn from experiences. We report here that infants exhibit learning even while asleep. Bioelectrical activity from face and scalp electrodes was recorded from neonates during an eye movement condition...

OBJECTIVE Traditional population screening focuses on conditions for which early treatment prevents severe morbidity and mortality. The classic example in pediatrics is newborn screening for phenylketonuria, which began in the 1960s. In 1968, Wilson and Jungner delineated 10 criteria that would justify population screening. These criteria have been reaffirmed by many newborn screening task forc...

HOW SHOULD WE OXYGENATE newborn and infants suffering from hypoxia and ischemia? Is it harmful to use 100% O2? It may seem odd to question a practice that has been carried out for so long, seemingly without any adverse effects. The case is, however, that after the practice of routinely using 100% O2 for newborn resuscitation was examined, many serious potentially harmful effects have to date be...