Publications by authors named "M Kouwaki"
Background: The incidence of pulmonary hypertension (PH) associated with bronchopulmonary dysplasia (BPD) has not been investigated in regional cohorts. The aim of this study was to clarify the incidence of PH associated with BPD in all very low birthweight infants (VLBWIs) born during the study period in Aichi Prefecture, Japan.
Methods: We conducted a retrospective observational cohort study of all VLBWIs born in Aichi Prefecture.
Hereditary pyropoikilocytosis is a subtype of hereditary elliptocytosis because of biallelic mutations of SPTA1, SPTB, and EPB41. The authors present a proband with neonatal jaundice and hemolytic anemia, with poikilocytosis in the blood film. Targeted next-generation sequencing identified Q267del trans to the αLELY allele in SPTA1.
View Article and Find Full Text PDFArticle Synopsis
- Virus-associated hemophagocytic syndrome (VAHS) in newborns has a high risk of mortality, and while specific diagnostic criteria and treatments are lacking, early identification and intervention are crucial.
- Echovirus type 7 can be transmitted from the mother to the baby during childbirth, potentially leading to VAHS in neonates.
- Intravenous immunoglobulin (IVIG) therapy is suggested as a first-line treatment for neonatal VAHS, which could help avoid more dangerous treatments like cyclosporine A and etoposide; a case study highlights successful IVIG therapy in a neonate with VAHS linked to echovirus type 7.
Article Synopsis
- Wolf-Hirschhorn syndrome (WHS) is a genetic disorder linked to a deletion on chromosome 4, characterized by unique facial features, growth delays, developmental challenges, and seizures.
- The study investigated 10 patients with various types of deletions in the WHS critical region, revealing complex relationships between deletion types and clinical symptoms, including facial appearance.
- Notably, the presence of key genes like LETM1 and WHSC1 did not guarantee the typical WHS facial features, suggesting that other genes may play significant roles, such as FGFRL1 in some cases.
Background: Marked improvements have been achieved in the survival of extremely low birth weight infants, but survival rates and prognoses of extremely small infants with birth weights ≤500 g remain poor. The aim of this study was to clarify long-term outcomes for surviving infants with birth weights ≤500 g.
Methods: The study population comprised fetuses of gestational age ≥22 weeks, expected live- or stillbirth weight ≤500 g, and birth date between 2003 and 2012.