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en: Novel large deletion involving EVC and EVC2 in Ellis-van Creveld syndrome

en: Ellis-van Creveld syndrome is an autosomal recessive skeletal dysplasia that is characterized by thoracic hypoplasia, polydactyly, oral abnormalities, and congenital heart disease. It is caused by pathogenic variants in the EVC or EVC2 genes. We report a case of a newborn with a compound heterozygous variant comprising NM_147127.5: c.1991dup:[p.Lys665Glufs*10] in the EVC2 gene and a novel large deletion involving exon 1 in EVC and exons 1-7 in EVC2.

en: Human Genome Variation

ja: Human Genome Variation


en: Neonatal Fever with Hepatomegaly and a Rapidly Involuting Congenital Hemangioma

en: The Journal of Pediatrics

ja: The Journal of Pediatrics


en: Neonatal rebound hyperkalemia associated with ritodrine alone: a case report

en: Betamimetics have been used for tocolysis extensively in the past, and one of them, ritodrine is widely used in Japan. Various adverse events have been reported for this agent, including newborn hypoglycemia and hypokalemia, as well as maternal hypokalemia and rebound hyperkalemia; however, cases of neonatal rebound hyperkalemia are not described in the literature. A male infant born at 36 weeks of gestation by cesarean section at a local maternity clinic suddenly entered cardiopulmonary arrest with ventricular tachycardia and fibrillation due to hyperkalemia (K, 8.7 mmol/L). No monitoring, examination of blood electrolyte levels, or infusions had been performed prior to this event. Maternal infusion of ritodrine (maximum dose, 170 μg/min) had been performed for 7 weeks prior to cesarean section. After resuscitation combined with calcium gluconate, the infant died at 4 months old due to serious respiratory failure accompanied by acute lung injury following shock. No cause of hyperkalemia other than rebound hyperkalemia associated with ritodrine was identified. This case report serves as a warning regarding the potential risk of neonatal rebound hyperkalemia in association with maternal long-term ritodrine administration.

en: BMC Pediatrics

ja: BMC Pediatrics


en: Urinary angiotensinogen level is increased in preterm neonates.

en: All components of the renin-angiotensin system (RAS) are abundantly synthesized in the developing kidney, suggesting that the RAS plays an important role in renal development. To examine this system in human neonates, we measured urinary angiotensinogen levels in preterm and full-term neonates and examined the relationship between urinary angiotensinogen levels and gestational age. Urine and plasma samples were collected from 20 preterm and 18 full-term neonates at birth. Angiotensinogen levels were measured using enzyme-linked immunosorbent assay. Plasma angiotensinogen concentrations were not increased in preterm neonates compared with that in full-term neonates (P = 0.7288). However, the urinary angiotensinogen-to-creatinine ratio was significantly higher in preterm neonates compared with that in full-term neonates (P = 0.0011). Importantly, the urinary angiotensinogen-to-creatinine ratio dropped significantly with increasing gestational age (P = 0.0010), whereas the plasma angiotensinogen concentration was not correlated with gestational age (P = 0.7814). These results suggest that urinary angiotensinogen levels may indicate the involvement of intrarenal RAS activation in prenatal renal development.

en: Clinical and Experimental Nephrology

ja: Clinical and Experimental Nephrology


en: Developmental changes in the left ventricular diastolic wall strain on M-mode echocardiography.

en: Normal values for the DWS of the left ventricle change with age. The data reported in this study can be used as normal values for the DWS of the left ventricle determined by M-mode echocardiography.

ja: The DWS in the just after birth group was 0.28 ± 0.11, which was significantly lower than that of the remaining groups (p < 0.05), except for the neonate group at 5-10 days after birth. The DWS was highest in the 1-9 years of age group, and then gradually decreased with age. Stepwise regression of various echocardiographic parameters showed that e' was the most relevant parameter for the DWS (β = 0.64).

en: Journal of Echocardiography

ja: Journal of Echocardiography