Experience using donor human milk: A single-center cohort study in Japan.

BACKGROUND: Donor human milk (DHM) became available in Japan when the first human milk bank was established in 2017. This study investigated the effects of DHM on enteral nutrition (EN) in very low birth weight (VLBW) infants in the single center in Japan. METHODS: Seventy-six VLBW infants hospitalized between April 2017 and March 2020 at Showa University Hospital were included in the study. We retrospectively evaluated age (hours) at which EN was initiated and age (days) until complete feeding (EN > 100 mL/kg/day) was achieved. We compared the DHM and non-DHM groups, or the early human milk (EHM) and non-EHM groups. The EHM group was defined as those in which EN was initiated with the mother's own milk or DHM within 12 h of birth. RESULTS: In 30 extremely low birth weight (ELBW) infants, EN was initiated at significantly earlier postnatal hours in the DHM group compared to those in the non-DHM group. Complete feeding was achieved at significantly earlier ages in the EHM group after adjusting for gastrointestinal complications and gestational age. Additionally, the changes in body weight z-scores from birth to term-equivalent age were significantly greater in the EHM group after adjusting for exclusive breastfeeding and small for gestational age, compared to the non-EHM group. Statistical significance was not noted in 46 subjects (birth weight, 1000-1500 g). CONCLUSION: The use of DHM may contribute to earlier initiation and achievement of EN, resulting in greater early postnatal growth in ELBW infants in Japan.

Birth Weight Standard Deviation Score is a Significant Determinant of Serum Urotensin-II Levels at Term-Equivalent Age in Preterm Infants.

OBJECTIVE: Urotensin II (U-II) is a potent vasoconstrictor peptide, and increased U-II levels are associated with atherosclerosis and hypertension in adults. Low birth weight (LBW) infants have higher risks of such diseases in the future. A small number of nephrons is one of possible mechanism underlying these risks in LBW infants, while vascular elasticity and cardiac function might be another important factor. The objective of this study is to evaluate U-II levels in preterm LBW infants at an early stage of life and determine perinatal factors associated with U-II levels. STUDY DESIGN: The study population consisted of 57 preterm LBW infants (26 males and 31 females), including 49 appropriate for gestational age (AGA) and 8 small for gestational age (SGA) infants, born at a gestational age of ≤34 weeks with a mean birth weight of 1,589 g. Serum U-II levels were measured at term-equivalent age to evaluate perinatal factors related to serum U-II levels. RESULTS: Preterm SGA infants had significantly higher serum U-II levels than preterm AGA infants at term-equivalent age (p = 0.019). Serum U-II levels in preterm LBW infants at term-equivalent age were inversely correlated with birth weight standard deviation (SD) score in a simple regression analysis (r = - 0.395, p = 0,002) and the correlation was maintained in the multiple regression analysis. CONCLUSION: Our results indicate that birth weight SD score might be associated with serum U-II levels in preterm LBW infants at term-equivalent age. Further studies are required to determine whether U-II levels at an early stage of life might influence the risk of atherosclerosis and hypertension. KEY POINTS: · U-II is a potent vasoconstrictor.. · We evaluated serum U-II levels in preterm infants.. · Fetal growth is negatively related to serum U-II levels..

Comprehensive genetic analysis confers high diagnostic yield in 16 Japanese patients with corpus callosum anomalies.

Corpus callosum anomalies (CCA) is a common congenital brain anomaly with various etiologies. Although one of the most important etiologies is genetic factors, the genetic background of CCA is heterogenous and diverse types of variants are likely to be causative. In this study, we analyzed 16 Japanese patients with corpus callosum anomalies to delineate clinical features and the genetic background of CCAs. We observed the common phenotypes accompanied by CCAs: intellectual disability (100%), motor developmental delay (93.8%), seizures (60%), and facial dysmorphisms (50%). Brain magnetic resonance imaging showed colpocephaly (enlarged posterior horn of the lateral ventricles, 84.6%) and enlarged supracerebellar cistern (41.7%). Whole exome sequencing revealed genetic alterations in 9 of the 16 patients (56.3%), including 8 de novo alterations (2 copy number variants and variants in ARID1B, CDK8, HIVEP2, and TCF4) and a recessive variant of TBCK. De novo ARID1B variants were identified in three unrelated individuals, suggesting that ARID1B variants are major genetic causes of CCAs. A de novo TCF4 variant and somatic mosaic deletion at 18q21.31-qter encompassing TCF4 suggest an association of TCF4 abnormalities with CCAs. This study, which analyzes CCA patients usung whole exome sequencing, demonstrates that comprehensive genetic analysis would be useful for investigating various causal variants of CCAs.