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Biomedical subjects

E Gilbert-Barness

Publications and source records attributed to E Gilbert-Barness.

At least 37 records · Page 2Linked to original sources
PubMed1997

Increased expression of low-density lipoprotein receptors in a Smith-Lemli-Opitz infant with elevated bilirubin levels.

We report on an infant girl with severe RSH or Smith-Lemli-Opitz syndrome with hyperbilirubinemia. The infant died at age 2 months. Sterol analysis of liver and brain tissues showed marked elevations of 7-dehydrocholesterol with decreased levels of cholesterol. Immunocytochemical analysis demonstrated remarkable increases in low-density lipoprotein (LDL) receptors in these tissues, indicative of a deficiency in available cholesterol for tissue needs.

Bilirubin↗
PubMed1997

Bronchopulmonary-foregut malformations: a continuum of paracrine hamartomas?

The bronchopulmonary-foregut malformations (BPFM) are usually sporadic, solitary cystic hamartomas involving conducting airways, arteries, venous drainage, and lung parenchyma. Transitional, compound hamartomas exist, and only their morphology is well-known. Between 1984-1994 we encountered and studied 10 unrelated patients and a stillborn infant with BPFM (out of 24,000 families). Ten were diagnosed in utero and one at birth as having congenital cystic adenomatoid malformation of the lung (CCAML). Postnatally, two diagnoses (20%) were corrected to bronchogenic cyst (BC) and diaphragmatic hernia, respectively. Bilateral lung involvement was present in 1 patient, and in 2 there was a considerable macroscopic regression of the hamartoma. Histologic studies of the six resected CCAML confirmed the diagnosis and implied dysregulated paracrine growth with its cellular and extracellular growth factors, protooncogenes, oncogenes, cytokines, cell-adhesive molecules, and receptors of these regulatory peptides, and their complex interactions as developmental morphogens in time and space.

Digestive System↗
PubMed1997

Suspended rocking cradles, positional asphyxia, and sudden infant death.

OBJECTIVE: To describe the risk of unexpected death in infants who are placed in suspended rocking cardles. MAIN OUTCOME MEASURES: Ten cases of sudden infant death and 5 cases of infant asphyxia with successful resuscitation reported to the Consumer Product Safety Commission were analyzed. The death scene investigation reports and autopsy material were made available for evaluation. All 15 cases implicated a suspended head-to-toe rocking cradle. RESULTS: Infants were aged 3 months or younger and were found in the facedown prone position when discovered. The cradle was tilted at greater than 5 degrees, and the head was wedged at one end of the cradle. A locking pin was not used in 14 cases. Ten of the 15 infants died. The autopsy reports listed sudden infant death syndrome as the cause of death. CONCLUSIONS: Suspended rocking cradles represent a potentially lethal sleeping environment and should not be used without a locking pin in place. Infants should be placed in the supine position for sleep.

Asphyxia↗
PubMed1997

Trophoblasts express Fas ligand: a proposed mechanism for immune privilege in placenta and maternal invasion.

Cross-linking of Fas (CD95, APO-1) and Fas ligand (FasL; CD95L) induces apoptosis of Fas-bearing cells. Recent evidence suggests that FasL. expression plays an important role in maintenance of immune privilege in murine testis and eye and in tumour escape from immune rejection in colon cancer, melanoma and hepatocellular carcinoma. Bcl-2 is a membrane protein that suppresses apoptosis in response to a variety of stimuli. In this paper we describe abundant expression of FasL protein and mRNA transcripts within the immune privileged environment of the placenta by immunohistochemistry and reverse transcription in-situ polymerase chain reaction methods. The syncytiotrophoblast layer, the main site of feto-maternal interface, and extravillous trophoblasts, demonstrated consistent immunoreactivity for FasL in term placentae. Co-occurrence of Fas and Bcl-2 were detected with a similar pattern of distribution with FasL. The TUNEL method revealed evidence of apoptosis in the placental tissues. We speculate that abundant presence of FasL in the trophoblast contributes to immune privilege in this unique environment, perhaps by fostering apoptosis of activated Fas-expressing lymphocytes of maternal origin. An apoptotic process mediated by FasL may also play a role in placental invasion during implantation and underscores similarities between the trophoblast and neoplastic cells.

Apoptosis↗
PubMed1996

Deaths of infants on polystyrene-filled beanbags.

We have reviewed 35 deaths of infants who were found face down on polystyrene-filled beanbags or their equivalents. Most of the deaths were recorded as sudden infant death syndrome. One-half of the children died before the age of 2 months. It is suggested that the bags played a major factor in the babies' deaths and are dangerous for young children. Mechanisms involved in the deaths of infants on beanbags may also be applicable to deaths of infants on other types of bedding.

Accidents, Home↗
PubMed1995

Infantile progressive striato-thalamic degeneration in two siblings: a new syndrome.

The clinical features, neuroimaging, and neuropathologic findings of a new syndrome, characterized by onset in early infancy, progressive course, choreiform movements, hypotonia, and dysphagia, are described in 2 siblings originating from a consanguineous marriage. The serial neuroimaging studies indicated progressive loss of volume of both caudate nuclei and change in signal intensity in putamina. Pathologically, there was severe neuronal loss and gliosis in the striatum and thalamus. This pathologic pattern in association with clinical and radiologic correlates, to our knowledge, has not been previously described. It appears that this syndrome is an autosomal recessive disorder.

Child, Preschool↗