Hereditary Spherocytosis Coexisting with UDP-Glucuronosyltransferase Deficiency Highly Suggestive of Crigler-Najjar Syndrome Type II

Patients with co-existing hereditary spherocytosis (HS) and UDP-glucuronosyltransferase 1A1 (UGT1A1) deficiency as Gilbert's syndrome (GS) have been reported, and previous studies have demonstrated an increased risk for developing gallstones in patients with co-inheritance of GS and HS. We experienced an interesting case of HS showing persistent jaundice after splenectomy, and upon further evaluation, the 25-year-old female patient was found to have HS combined with UGT1A1 deficiency. Sequence analysis of the UGT1A1 gene revealed that she was a compound heterozygote with p.[G71R; Y486D] + [Y486D] mutations, which suggests Crigler-Najjar syndrome type II rather than GS. Careful evaluation of inappropriately elevated bilirubin level compared with the degree of hemolysis is important, reflecting the therapeutic implication of splenectomy and cholecystectomy

Expression of 11beta-hydroxysteroid dehydrogenase 2 contributes to glucocorticoid resistance in lymphoblastic leukemia cells

Synthetic glucocorticoids (GC) form a crucial first-line treatment for childhood acute lymphoblastic leukemia (ALL). However prolonged GC therapy frequently leads to GC-resistance with an unclear molecular mechanism. 11β-hydroxysteroid dehydrogenase (11β-HSD) 2 inactivates GCs within cells. Here, we show the association between GC sensitivity and 11β-HSD2 expression in human T-cell leukemic cell lines. 11β-HSD2 mRNA and protein levels were considerably higher in GC-resistant MOLT4F cells than in GC-sensitive CCRF-CEM cells. The 11β-HSD inhibitor, carbenoxolone pre-treatment resulted in greater cell death with prednisolone assesed by methyl-thiazol-tetrazolium assay and Caspase-3/7 assay, suggesting that 11β-HSD2 is a cause of GC-resistance in ALL

Extremely Low Birthweight Infant with Wolf-Hirschhorn Syndrome: A Dilemma in Determination of the Optimal Timing of Delivery

Wolf-Hirschhorn syndrome (WHS) is characterized by multiple malformations as well as mental and developmental defects resulting from the absence of a distal segment of the short arm of chromosome 4. We experienced an extremely low birthweight infant with WHS. The male infant (birthweight 934 g) was born at 31 weeks’ gestation by cesarean section due to intrauterine growth restriction and presented with the typical WHS phenotype. Chromosomal analysis showed a deletion: 46,XY,del(4)(p15.3 p16). Although the patient's respiratory distress syndrome resolved favourably and his subsequent condition was also stable, he had unusually severe retinopathy of prematurity and periventricular leukomalacia. We suppose that these severe complications were associated with not only prematurity but also with latent structural fragility due to WHS. Herein, we discuss the prenatal detection of WHS and the optimal timing of delivery

Left Ventricular Diastolic Performance in Neonates

Background The left ventricular (LV) diastolic performance of infants who were in a stable post-treatment condition in the neonatal intensive care unit was evaluated using echocardiography. Methods and Results The study group comprised 55 infants (Stable infant group, SI) and the parameters of LV performance were: LV propagation velocity (Vp) by color M-mode Doppler echocardiography (CMD), peak E wave, peak A wave, and the E/A ratio of transmitral flow. In a second set of measurements, a subset of 10 infants (patent ductus arteriosus (PDA) infant group, PI) were evaluated for LV diastolic performance during closure of PDA. The mean Vp in the SI was 27.2±7.3 cm/s and a positive correlation was observed between Vp and gestational age (r=0.477, p=0.0002). In the PI, Vp did not change significantly during closure of the PDA (from 23.3±8.2 cm/s to 27.5±8.4 cm/s); however, the E/Vp ratio decreased significantly with closure (from 3.14±0.83 to 2.12±0.68, p=0.0051). Conclusion The measurement of Vp by CMD can be considered a parameter for the evaluation of LV diastolic performance, even in the neonatal period. The LV diastolic performance of the infant is maintained from immediately after birth to spontaneous closure of the PDA.rights:社団法人日本循環器学会rights:本文データは学協会の許諾に基づきCiNiiから複製したものであるrelation：isVersionOf:http://ci.nii.ac.jp/naid/110002703846浜松医科大学学位論文　医博論第459号(平成２０年１１月２１日

遅延増感心臓MRI画像を示した孤立性左室心筋緻密化障害の1小児例

Isolated noncompaction of the ventricular myocardium (INVM) was diagnosed with delayed enhancement cardiac magnetic resonance imaging (MRI) in a 12-year-old boy, who developed dyspnea and syncope while running. Chest radiograph showed no marked cardiomegaly, but revealed bilateral consolidation caused by aspiration pneumonia. Laboratory findings showed plasma level of brain natriuretic peptide (BNP) of 768 pg/dl. Echocardiography showed a slightly thickened myocardium, but the trabecular meshwork region was unclear. He was given a diagnosis of unknown heart failure. His dyspnea and cyanosis improved in response to inotropic agents, oxygen and steroid therapy. However, the plasma BNP levels could not be decreased to normal. Cardiac MRI was performed and delayed-enhancement demonstrated hyperenhancement of prominent trabeculation in the lateral and apical regions of the left ventricle, suggesting fibrosis. The patient was given a diagnosis of INVM, but his status was New York Heart Association Class I heart failure. The diagnosis of INVM in children is difficult because heart failure symptoms are present in only 30% of the cases at diagnosis. Delayed-enhancement MRI is a more precise method of assessment.rights:社団法人日本循環器学会rights:本文データは学協会の許諾に基づきCiNiiから複製したものであるrelation：isVersionOf:http://ci.nii.ac.jp/naid/11000665691