Congenital universal hypertrichosis with deafness and dental anomalies inherited as an X-linked trait.

We report a large Mexican kindred with a variant form of congenital universal hypertrichosis that is inherited in an apparent X-linked recessive manner. In addition to the generalized hypertrichosis, the affected individuals have dental malformations and deafness. Males are more severely affected than females who exhibit only mild hypertrichosis, but not deafness or dental anomalies. Haplotype analysis in this pedigree revealed linkage to a 13-cM region on chromosome Xq24-q27.1 between markers GATA198A10 and DXS8106. Localization of the gene underlying this form of hypertrichosis is the initial step in identifying genes on the X chromosome that are involved in the control of hair growth and development.

Phospholipid and surfactant protein A concentrations in tracheal aspirates from infants requiring extracorporeal membrane oxygenation.

To test the hypothesis that infants with severe respiratory failure and the need for extracorporeal membrane oxygenation (ECMO) are surfactant deficient, we measured the amount of surfactant phospholipids, disaturated phosphatidylcholine, surfactant protein A, and protein in tracheal aspirates from 22 infants, who received ECMO therapy for respiratory failure with meconium aspiration syndrome (n = 18) or pneumonia (n = 4). Tracheal suction material was obtained in a standardized way every 4 hours during the period of ECMO treatment and pooled for 24-hour periods. During ECMO, mean total phospholipid, disaturated phosphatidylcholine, and surfactant protein A values in tracheal aspirates increased and protein values decreased significantly, predominantly during the 72-hour period before infants were weaned from ECMO. Of the 22 infants, 14 had an increase in tracheal aspirate phospholipid values of more than 200% and were found to need a shorter period of ECMO support (p less than 0.005) and post-ECMO ventilatory support (p less than 0.025) than did the eight infants with stationary or only moderate increases in tracheal aspirate phospholipid values, three of whom had pneumonia. We conclude that infants with respiratory failure who require ECMO treatment often have surfactant deficiency. We speculate that surfactant treatment might decrease the need for or the duration of ECMO support.

Triglycerides, free fatty acids, free fatty acids/albumin molar ratio, and cholesterol levels in serum of neonates receiving long-term lipid infusions: controlled trial of continuous and intermittent regimens.

We compared intermittent (8 hours/day) versus continuous (24 hours/day) isocaloric lipid infusion regimens in 28 neonates. The lipid dose was increased incrementally by 0.5 gm/kg/day to either 3 gm/kg/day or until fat contributed 40% of daily calories. Serum total triglycerides, free fatty acids, free fatty acids/albumin molar ratio, and total cholesterol levels were measured prior to the daily lipid infusion, at the end of the intermittent infusion, and at 8 hours during the continuous infusion. Neonates less than 32 weeks postconception had significant fluctuation of triglycerides, free fatty acids, and free fatty acids/albumin molar ratio during the intermittent regimen at all lipid doses, but not during the continuous regimen. Neonates greater than or equal to 32 weeks postconception had significant fluctuation of serum triglycerides, free fatty acids, and free fatty acids/albumin molar ratio during the intermittent regimen with a lipid dose greater than or equal to 2 gm/kg/day, but not during the continuous regimen at all lipid doses. Serum free fatty acids correlated closely with serum triglycerides during both regimens (r = 0.89, P less than 0.001). Serum total cholesterol rose with increasing lipid doses during both regimens (f = 8.16, P less than 0.05). We conclude that neonates less than 32 weeks postconception tolerate the continuous regimen better than the intermittent regimen at all lipid doses; neonates greater than or equal to 32 weeks postconception tolerate both regimens well at lipid dose less than 2 gm/kg/day, but tolerate a continuous regimen better with lipid dose greater than or equal to 2 gm/kg/day.

Furosemide acutely decreases airways resistance in chronic bronchopulmonary dysplasia.

We studied the effects of furosemide on pulmonary mechanics in 10 infants with bronchopulmonary dysplasia aged 41 +/- 1 (SE) weeks post-conception, gestational age at birth 30 +/- 1 wk, birth weight 1370 +/- 200 gm. Thoracic gas volume, airways resistance, and specific airway conductance were measured in an infant body pressure plethysmograph during quiet breathing. Dynamic pulmonary compliance was measured using an esophageal balloon. Infants with BPD had greater Raw, lower SGaw, and lower Cdyn than did 16 normal control infants. Within one hour after administration of furosemide 1 mg/kg IV to infants with BPD, Raw fell 36 +/- 13%, SGaw increased 84 +/- 22%, and Cdyn increased 54 +/- 13%; TGV did not change. Diuretic treatment of BPD in infants is associated with rapid, short-term improvement in Raw and Cdyn.