Accumulation of mitochondrial DNA with a point mutation in tRNA gene induces brain dysfunction in mice.

Brain functions are mediated via the complex interplay between several complex factors, and hence, identifying the underlying cause of an abnormality within a certain brain region can be challenging. In mitochondrial disease, abnormalities in brain function are thought to be attributed to accumulation of mitochondrial DNA (mtDNA) with pathogenic mutations; however, only few previous studies have directly demonstrated that accumulation of mutant mtDNA induced abnormalities in brain function. Herein, we examined the effects of mtDNA mutations on brain function via behavioral analyses using a mouse model with an A2748G point mutation in mtDNA tRNA.

Rapid two-stage Starnes procedure for a symptomatic neonate with Ebstein anomaly.

We present a rapid two-stage Starnes procedure for a seriously symptomatic neonate with the prenatal diagnosis of Ebstein anomaly. At 16 hours after birth, we performed an emergency operation consisting of main pulmonary artery ligation, plication of the right atrial and right ventricular wall, modified Blalock-Taussig shunt, and patent ductus arteriosus ligation, without cardiopulmonary bypass. At age 12 days, we then performed the Starnes procedure using a glutaraldehyde-treated autologous pericardial patch with a 4-mm fenestration to close the tricuspid valve orifice.

Imaging and clinical characteristics of children with multiple foci of microsusceptibility changes in the brain on susceptibility-weighted MRI.

Background: Microsusceptibility changes in the brain are well known to correspond with microbleeds or micrometal fragments in adults, but this phenomenon has not been explored well in children.

Objective: To assess imaging and clinical characteristics of children with multiple foci of microsusceptibility changes using susceptibility-weighted imaging (SWI).

Materials And Methods: Between 2006 and 2008, 12 children with multiple foci of microsusceptibility on SWI without corresponding abnormal signal on conventional MRI were identified and were retrospectively assessed.

Impact of 3-mm Blalock-Taussig shunt in neonates and infants with a functionally single ventricle.

Functionally single ventricle (f-SV) is susceptible to volume overload. Atrioventricular valve regurgitation (AVVR) tends to develop and ventricular function deteriorates due to excessive pulmonary blood flow following modified Blalock-Taussig shunt (mBTS). On the other hand, a small caliber graft has risks of early obstruction and poor growth of pulmonary vascular beds.

Evaluation of blood rheology in patients with cyanotic congenital heart disease using a microchannel array flow analyzer.

Blood hyperviscosity due to secondary erythrocytosis is a common pathologic feature of cyanotic congenital heart disease (CCHD). In CCHD, it is possible that hematological parameters other than red blood cells influence blood rheology. We measured blood passage time to evaluate the blood rheology in patients with CCHD (n=18, age: 15.