Apparent Opitz BBBG syndrome with a partial duplication of 5p.

We describe a patient with a paracentric inversion and partial duplication of chromosome 5p. In addition this patient presented with a malformation pattern consistent with Opitz BBBG syndrome. This implies that the gene responsible for this single gene defect may be located within this duplicated region.

Radial microbrain form of micrencephaly: possible association with carbamazepine.

A premature infant exposed to carbamazepine in utero had a markedly undersized brain on cranial ultrasonogram. Postmortem examination of the brain revealed no evidence of hypoxic-ischemic injury, hemorrhage, infarction, congenital infection, or calcification. The normal cortical gyral pattern, normal residual germinal matrix, and normal cortical lamination suggested the diagnosis of a radial microbrain form of micrencephaly.

Neonatal segmental myoclonus associated with hyperglycorrhachia.

Segmental or spinal myoclonus is an uncommon involuntary movement in infancy which has been attributed to sepsis, degenerative and developmental diseases of the spinal cord, birth trauma, and sclerosing panencephalitis. A premature infant presenting with segmental myoclonus associated with extreme hyperglycorrhachia secondary to the administration of parenteral nutrition through a femoral percutaneous indwelling central catheter that had inadvertently migrated into a paravertebral vein is reported. We recommend a lateral abdominal radiograph in addition to the usual anteroposterior view to confirm the correct placement of femoral catheters.

Ultrasonographic differential diagnosis and neurodevelopmental outcome of cerebral white matter lesions in premature infants.

OBJECTIVE: To determine the clinical usefulness of recently published ultrasonographic criteria for the differential diagnosis of periventricular hemorrhagic venous infarction (PHVI) versus periventricular leukomalacia (PVL), and its relevance to neurodevelopmental outcome. STUDY DESIGN: From 1992 to 1995, we evaluated 998 very low birth weight infants of which 111 developed cerebral white matter lesions on cranial ultrasonogram examination. An attempt was made to differentiate the lesions into either PHVI or PVL using specific ultrasonographic criteria (Volpe JJ. Brain inury in the premature infant: is it preventable? Pediatr Res 1990; 6:S28-33). Seventy-six patients who survived to discharge constituted the study group. Survivors were followed prospectively with neurologic examinations, visual and auditory screening, and developmental testing. RESULTS: PHVI was diagnosed in 23 patients (30%), PVL in 36 (47%), characteristics of both PHVI and PVL (mixed lesions) in 8 (11%), and persistent periventricular echodensity without cystic change in 9 (12%). Two-year follow-up data were obtained on 57 of 76 (75%) patients. Neurodevelopmental deficits were common in all groups; however, infants with localized PHVI had a mean developmental quotient in the normal range. CONCLUSION: The majority of white matter lesions (77%) can be differentiated as either PHVI or PVL by ultrasonographic criteria, with coexisting features in only 11% of patients. In addition to these lesions, persistent periventricular echodensity was also associated with a high risk of subsequent neurodevelopmental deficit. However, normal development was seen in a subgroup of patients with localized periventricular hemorrhagic venous infarction.

Human milk versus formula after gastroschisis repair: effects on time to full feeds and time to discharge.

OBJECTIVE: To determine if the choice of enteral feeds after gastroschisis repair relates to the time to achieve full feeds and time to discharge. STUDY DESIGN: A retrospective study of infants with gastroschisis from 2000 to 2010 examined demographics, days at closure, days at initiation of feeds, days to full feeds, time to discharge and length of stay. RESULT: Ninety infants were identified, 22 received (human milk) HM exclusively, 15 were fed >50% HM, 16 were fed <50% HM and 26 were fed only cow milk-based formulas. Infants fed exclusively HM had significantly shorter times to full enteral feedings (median 5 days versus 7 days, P=0.03). The time from initiation of feedings to hospital discharge, which accounts for initiation age, significantly favored the exclusively HM-fed infants (median 7 days versus 10 days, P=0.01). CONCLUSION: Exclusive HM feeding after gastroschisis repair decreases time to achieve full enteral feeds and time to discharge.

Dodecyl maltoside-sodium dodecyl sulfate two-dimensional polyacrylamide gel electrophoresis of chloroplast thylakoid membrane proteins.

A two-dimensional electrophoretic system has been developed for the separation of chloroplast thylakoid membrane proteins. This system incorporates nondenaturing polyacrylamide gel electrophoresis in the presence of the nonionic detergent dodecyl-beta-D-maltoside in the first dimension and sodium dodecyl sulfate-polyacrylamide gel electrophoresis in the second dimension. Thylakoid membranes isolated from Spinacia oleracea were solubilized in 1.0% dodecyl-beta-D-maltoside and separated in 4-7% linear acrylamide gradient tube gels which contained 0.05% dodecyl-beta-D-maltoside. After electrophoresis, the tube gels were equilibrated with a sodium dodecyl sulfate-containing equilibration buffer and applied to a 12.5-20% acrylamide linear gradient gel. The Lammelli buffer system was used in both dimensions. The two-dimensional gels were analyzed by staining sequentially with 3,3',5,5'-tetramethylbenzidine-H2O2, Coomassie blue, and silver staining. A number of protein components were identified on "Western blots" of these two-dimensional gels by immunological localization. Membrane protein complexes such as the light-harvesting chlorophyll a/b protein complex, photosystem I, photosystem II, the cytochrome b6/f complex and ribulose bisphosphate carboxylase appear to migrate as essentially intact complexes in the first dimension and appear as vertical series of resolved subunits in the second dimension. This technique complements isoelectric focusing/sodium dodecyl sulfate-polyacrylamide gel electrophoresis in providing additional information concerning the subunit composition of membrane protein complexes and may prove to be of general utility for studying the protein composition of other membrane systems.

Transient lectin binding by white matter tract border zone microglia in the foetal rabbit brain.

Axonal growth cones of developing white matter tracts are guided through the cerebrum by interactions with cell surface and extracellular matrix molecules expressed by glial cells that mediate cell adhesion and contact-dependent inhibition. Specific carbohydrates are considered essential for the proper functioning of these molecular complexes. We studied developmental aspects of complex carbohydrate expression by white matter glia in the foetal rabbit brain using the tomato lectin Lycopersicon esculentum, which has affinity for components of the extracellular matrix proteins and cell surface proteins (N-acetylglucosamine) and activated lysosomal membrane glycoproteins (N-acetyllactosamine). Concentrations of the lectin-positive glia were transiently found immediately adjacent to developing white matter tracts of the foetal rabbit brain from 22 to 32 days' gestation. The number of positive cells markedly diminished by the fourth post-natal day and in the adult brain. The lectin-positive glia did not react with antibody to glial fibrillary acidic protein. However, they did express the macrophage surface antigen, Mac-1, indicating that the lectin binding reflected the presence of microglial activated lysosomal membranes. These data suggest that, in addition to their role as central nervous system scavengers, microglia are involved in a specifically timed function in the neurodevelopmental programme of white matter tract formation.

Evidence for the safety of ascorbic acid administration to the premature infant.

Ascorbic acid (AA), a plasma antioxidant, is maintained at high levels in premature fetal blood and declines rapidly postpartum. The sudden reduction in blood AA levels secondary to premature delivery may increase the risk of oxidant injury, that is, bronchopulmonary dysplasia and intraventricular hemorrhage. There is concern that administration of AA to premature infants, in an effort to increase antioxidant capacity, may cause hemolysis. We felt that the benefits of early AA administration and prevention of the immediate postnatal drop in blood AA levels, might outweigh the risks of erthrocyte damage. Fifty one high-risk premature infants were randomized to receive either normal saline or 100 mg/kg of AA, daily for the first week of life. Double-blind comparisons were made of hemoglobin, hematocrit, erythrocyte morphology, bilirubin, number of blood transfusions and days of phototherapy, renal function tests, the incidence of infection, bronchopulmonary dysplasia, and intraventricular hemorrhage during the first month of life. The administration of AA prevented the immediate postnatal drop in AA and was not associated with evidence of increased hemolysis. No significant differences in renal function, rate of infection, bronchopulmonary dysplasia, or intraventricular hemorrhage were seen between the two groups. This study suggests that AA administration to the premature infant is safe and supports the designing and performance of larger clinical studies of the antioxidant properties of AA.

Enhanced disease resistance conferred by expression of an antimicrobial magainin analog in transgenic tobacco.

Magainins are a group of short peptides originally isolated from frog skin and thought to function as a natural defense mechanism against infection due to their antimicrobial properties. The engineered magainin analog peptide Myp30 was found to inhibit spore germination of the oomycete, Peronospora tabacina (Adam) in vitro, and the growth of a bacterial pathogen Erwinia carotovora subsp. carotovora (Jones). Transgenic tobacco (Nicotiana tabacum L.) plants expressing Myp30 were evaluated for resistance to these pathogens. The expression of the peptide only to an extracellular location resulted in significant reduction in sporulation and lesion size due to P. tabacina infection. A significant increase in resistance to the bacterial pathogen was also observed regardless of the targeting location of the peptide.