Morbidity in Newborns Readmitted Into a Hospital After Discharge From a Maternity Unit During the First 28 Days of Their Lives - Results From the Rhine-Main Area, Germany.

BACKGROUND: The neonatal period can be associated with a multitude of medical and social problems. Little is known about the reasons that lead to neonatal readmissions in a pediatric hospital and their individual outcomes. OBJECTIVE: To record the diagnosis of neonatal admissions in a pediatric hospital after discharge from a maternity unit. Predictive parameters are to be identified and a possible trend over the years is to be examined. METHODS: The medical history of newborns admitted to a pediatric hospital in the Rhine-Main area from 01/01/2004 to 31/12/2013 was retrospectively analyzed based on provided medical files. RESULTS: The data of 2851 newborns was recorded. 72% of the patients were delivered by vaginal birth. During the period under examination, there was a certain fluctuation although no significant trend in the number of admissions per year (p=0.062). The most frequent primary diagnoses were jaundice (27%), newborn infection (12.4%), and feeding problems (12.3%). Exclusively breastfed newborns had fewer feeding problems than newborns with a mixed or purely formula diets (p < 0.001). CONCLUSIONS: The results of this study showed that the hospital readmissions of newborns throughout the years did not increase. Unfortunately, owing to the retrospective character of the study, it is not possible to make a clear statement as to whether hospitalization can be prevented with more intensive preventative measures. A prospective study on this matter is being planned.

Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphalangism.

Catel-Manzke syndrome is characterized by the combination of Pierre Robin sequence and radial deviation, shortening as well as clinodactyly of the index fingers, due to an accessory ossification center. Mutations in TGDS have been identified as one cause of Catel-Manzke syndrome, but cannot be found as causative in every patient with the clinical diagnosis. We performed a chromosome microarray and/or exome sequencing in three patients with hand hyperphalangism, heart defect, short stature, and mild to severe developmental delay, all of whom were initially given a clinical diagnosis of Catel-Manzke syndrome. In one patient, we detected a large deletion of exons 1-8 and the missense variant c.1282C > T (p.Arg428Trp) in KYNU (NM_003937.2), whereas homozygous missense variants in KYNU were found in the other two patients (c.989G > A (p.Arg330Gln) and c.326G > C (p.Trp109Ser)). Plasma and urine metabolomic analysis of two patients indicated a block along the tryptophan catabolic pathway and urine organic acid analysis showed excretion of xanthurenic acid. Biallelic loss-of-function mutations in KYNU were recently described as a cause of NAD deficiency with vertebral, cardiac, renal and limb defects; however, no hand hyperphalangism was described in those patients, and Catel-Manzke syndrome was not discussed as a differential diagnosis. In conclusion, we present unrelated patients identified with biallelic variants in KYNU leading to kynureninase deficiency and xanthurenic aciduria as a very likely cause of their hyperphalangism, heart defect, short stature, and developmental delay. We suggest performance of urine organic acid analysis in patients with suspected Catel-Manzke syndrome, particularly in those with cardiac or vertebral defects or without mutations in TGDS.