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We report on a 9-month-old boy who had duplication of the long arm of chromosome 9 [46,XY, -12, +der(12) inv ins (12;9)(p13;q32q13)mat.]. The clinical manifestations of the patient were different from those seen in distal 9q duplication. Pyloric stenosis appears to be common in cases with proximal 9q duplications.

Two cases of neonatal hypophosphatasia are described. In case 1, hypercalcemia developed at 2 1/2 months of age and continued until death at 10 1/2 months of age. Serum calcium levels decreased transiently in response to phosphate supplementation, prednisolone, and calcitonin. Significantly elevated levels of PTH were detected at 2 1/2 months of age. At autopsy, no parathyroid glands were found. In case 2, hypercalcemia was not detected in his course. Elevated level of serum PTH was recorded on the 17th day of life. A post-mortem examination revealed the presence of one normal parathyroid gland.

Changes in the intracellular concentrations of cyclic nucleotides during the initiation of starfish sperm motility were examined. The intracellular concentration of cGMP decreased just after dilution of sperm with sea water, whereas that of cAMP increased concomitant with initiation of sperm motility. In acidic sea water, the intracellular concentration of cGMP decreased but no increase in that of cAMP was observed and sperm remained immotile. The presence of a phosphodiesterase inhibitor enhanced the rate of increase in the intracellular concentration of cAMP and the sperm motility. These results indicate that cAMP is involved in the initiation of sperm motility in starfish.

Upper gastrointestinal examinations with simultaneous cardiorespiratory monitoring were performed in 39 older premature infants with persistent apnea. Swallowing incoordination was documented to be causatively related to persistent apnea in such infants, especially with feeding. Direct relationship between apnea and gastroesophageal reflux was not documented in this study.