A study on the measurement of the nucleated red blood cell (nRBC) count based on birth weight and its correlation with perinatal prognosis in infants with very low birth weights.

PURPOSE: The aim of this study was conducted to investigate the mean nRBC count in very low births weight infants (VLBWIs) and to determine the usefulness of the nRBC as an independent prognostic factors of perinatal complications in VLBWIs. METHODS: This study was conducted on 112 VLBWIs who were hospitalized in the neonatal intensive care unit (NICU) of the author's hospital within the period from March 2003 to and May 2008. Based on the infants' nucleated red blood cells (nRBC) counts at birth, on the third day after birth, on the seventh day after birth, in the second week after birth, and in the fourth week after birth in the medical records, the correlation between nRBC or absolute nRBC counts with birth weight, gestational age, and other perinatal outcomes were retrospectively investigated. RESULTS: In VLBWIs, their mean nRBC and absolute nRBC counts were showing a gradual decrease after birth, and they were consisteantly kept at low values since one week after and inversely proportional to the birth weights. The mean nRBC counts based on the stage after birth showed a significant correlation with perinatal death, necrotizing enterocolitis, and severe intraventricular hemorrhage. CONCLUSION: The increase in the nRBC count showed a significant correlation with having a severe intraventricular hemorrhage, necrotizing enterocolitis, and perinatal death in VLBWIs. If an increase or no decrease in the nRBC count after birth is observed, newborn-infant care precautions should be required.

Severe respiratory phenotype caused by a de novo Arg528Gly mutation in the CACNA1S gene in a patient with hypokalemic periodic paralysis.

Hypokalemic periodic paralysis (HOKPP) is a rare disorder characterized by episodic muscle weakness with hypokalemia. Mutations in the CACNA1S gene, which encodes the alpha 1-subunit of the skeletal muscle L-type voltage-dependent calcium channel, have been reported to be mainly responsible for HOKPP. The paralytic attacks generally spare the respiratory muscles and the heart. Here, we report the case of a 16-year-old boy who presented with frequent respiratory insufficiency during the severe attacks. Mutational analysis revealed a heterozygous c.1582C>G substitution in the CACNA1S gene, leading to an Arg528Gly mutation in the protein sequence. The parents were clinically unaffected and did not show a mutation in the CACNA1S gene. A de novo Arg528Gly mutation has not previously been reported. The patient described here presents the unique clinical characteristics, including a severe respiratory phenotype and a reduced susceptibility to cold exposure. The patient did not respond to acetazolamide and showed a marked improvement of the paralytic symptoms on treatment with a combination of spironolactone, amiloride, and potassium supplements.