A novel FOXF1 mutation associated with alveolar capillary dysplasia and coexisting colobomas and hemihyperplasia.

Alveolar capillary dysplasia (ACD) is a rare and lethal cause of hypoxic respiratory failure in the neonate. Here we describe a term neonate with ACD that was found with a previously unreported p.Arg86Pro mutation in the FOXF1 (Forkhead Box-F1) gene and coexisting congenital anomalies, including colobomas of the iris and hemihyperplasia. This unique clinical presentation may indicate a novel, yet unconfirmed disease association for mutations in the FOXF1 gene. Rapid mutation analysis in FOXF1 may provide noninvasive early confirmation of ACD in neonates with respiratory failure and can aid in clinical decision making.

Motor planning ability is not related to lesion side or functional manual ability in children with hemiplegic cerebral palsy.

Optimal task performance requires anticipatory planning to select the most appropriate movement strategy. There is conflicting evidence for hemispheric specialisation of motor planning, with some suggesting left hemisphere dominance, claiming that children with right hemiplegic cerebral palsy (HCP) are therefore disproportionally affected. An alternative view is that there is a positive relationship between functional ability (rather than side of lesion) and motor planning skill. We aimed to compare children with right and left HCP on motor planning ability and to explore its relationship with functional manual ability. Participants were 76 children with HCP (40 left HCP; 30 female), aged 4-15 years (Mean 9.09, SD 2.94). Motor planning was assessed using a measure of end-state comfort, which involved turning a hexagonal handle 180° without readjusting grasp. This is difficult, or in some cases impossible, to achieve unless an appropriate initial grasp is adopted. Children completed 24 turns (12 clockwise), which were video recorded for offline scoring. Functional manual ability was assessed with the ABILHAND-Kids questionnaire, completed by parents. Contrary to the existing literature, no differences were observed between right and left HCP. However, a significant interaction between direction of turn and side of hemiplegia indicated a preferential bias for turns in the medial direction, consistent with the "medial over lateral advantage". There was no relationship between functional ability and motor planning. Therefore, motor planning may not be a priority for therapeutic intervention to improve functional ability in HCP.

Eosinophilic myocarditis presenting with pediatric myocardial infarction.

Determination of the etiology of myocardial infarction (MI) in children can present a challenge to the practitioner since cases of pediatric MI are rare and the causes can be diverse. We report an unusual case of pediatric eosinophilic myocarditis that presented with MI.

Myocardial infarction late after Mustard procedure.

This case report discusses a young man with d-transposition of the great arteries who suffered three myocardial infarctions late after his Mustard procedure. The etiology was found to be a coronary embolism, with a mural thrombus in the systemic ventricle as the probable nidus. The risk factors of coronary embolism are discussed, and it is concluded that Mustard patients are at risk for coronary embolization and myocardial infarction, which can be a cause of sudden death.

Rare peripheral T cells migrate to and persist in normal mouse thymus.

The traffic of T cells between the thymus and peripheral lymphoid organs is generally thought to be unidirectional. Using a technique of lymphocyte transfer between Thy-1 congenic mice, we demonstrate here the entry of rare peripheral lymph node T cells into the normal mouse thymus. At time points from 3 h to 24 wk after transfer, donor peripheral T cells were present in the host thymus, mainly as scattered single cells confined to the medulla. At 2 wk after transfer, donor T cells constituted 0.2% of the medullary thymocytes (compared with 11% of the peripheral lymph node T cells). As a population, these cells exhibited a stable mature immunophenotype (Ly-1hi, PNAlo, and mixed L3T4- and Lyt-2+). A minority of the donor T cells expressed high levels of the MEL-14 "homing receptor". The thymic medulla thus exhibits features of a peripheral lymphoid organ but differs in its low rate of turnover of recirculating T cells.

The teen-tot clinic: an alternative to traditional care for infants of teenaged mothers.

A comprehensive interdisciplinary clinic was established to provide health care for teenaged mothers less than 16 years old and their infants. Thirty-five mother-infants pairs using this clinic were matched with 70 mother-infant pairs who used "traditional" health care facilities. Significant differences in infant outcomes of immunization status at 6 months (91% versus 46% completed), and weight (97% versus 83% within "normal" range) and maternal outcomes of contraceptive use (91% versus 63%), enrollment in educational programs (86% versus 66%), and repeat pregnancy rate (16% versus 38%) were found between Teen-Tot Clinic participants and the control group. Coordination and consolidation of services for teenaged mothers and their infants appears to favorably influence their short-term outcomes.

Absence of phosphatidylglycerol (PG) in respiratory distress syndrome in the newborn. Study of the minor surfactant phospholipids in newborns.

Phosphatidylglycerol (PG) was absent from lung effluent in 41 infants with respiratory distress syndrome of the newborn (RDS), whereas effluent from healthy control subjects of similar gestational age contained this phospholipid (4.9 +/- 2.4% of lipidphosphorus (P), n = 32). Control infants of 28 weeks of gestation or less with various respiratory disturbances other than RDS also had low PG (0.2 +/- 0.2% of lipid-P, n = 5). In RDS surfactant complex often could be isolated from the airways using differential and density gradient centrifugation. The material thus obtained had prominent phosphatidylinositol (PI) (13.6 +/- 2.8% of lipid-P, n = 6), but no PG. Of those 18 infants who had such surfactant even in the early stages of RDS, 13 were 35 weeks of gestation or more, 3 were offspring of diabetic mothers, and 2 had severe perinatal asphyxia. In healthy control subjects PG sometimes appeared first within an hour of birth, but in RDS PG did not appear until recovery from RDS. In RDS type II (transient tachypnea of the newborn) PG in lung effluent also was abnormally low (1.3 +/- 0.6% of lipid-P, n = 5) and PI was correspondingly prominent (9.7 +/- 3.6% of lipid-P, n = 5), indicating immaturity of surfactant similar to RDS. Surfactant with PG and PI has superior surface-active properties compared to that containing PI, but no PG. Surfactant without PG does not seem to stabilize the alveoli of the newborn as well as does surfactant with PG. The failure of PG appearance following birth therefore may precipitate RDS, especially beyond 35 weeks of gestation.

Phosphatidylinositol and phosphatidylglycerol in amniotic fluid: indices of lung maturity.

The minor phospholipids in amniotic fluid from normal pregnancies were correlated with the well-established index of lung maturity, the lecithin/sphingomyelin (L/S) ratio. When the L/S ratio was less than 1.0, the acidic phospholippids phosphatidylglycerol (PG) and phosphatidylinositol (PI) were absent or low in concentration (0.0 to 2.5 per cent of lipid phosphorus). Parallel to the increase in the L/S ratio to 2.0, the content of PI increased 6.0 to 8.5 per cent of lipid phosphorus. PG, the unique phospholipid of lung surfactant, first appeared and PI concomitantly decreased when the L/S ratio exceeded 2.0, indicating the secretion of mature lung surfactant. Analysis of PI and PG in amniotic fluid as markers of surfactant seems to be of value as an additional index of prenatal evaluation of lung maturity and may be particularly useful when the specimen is contaminated with blood.

An immunofluorescent procedure for detection of Hb F (gamma chain) in peripheral erythrocytes.

A direct fluorescent method for the detection of the gamma chain of Hb F in erythrocytes is described. The method is easier to interpret and more sensitive than the classic Kleihauer-Betke procedure.