Intellectual disability and microcephaly associated with a novel CHAMP1 mutation.

Mutations in a number of genes related to chromosomal segregation reportedly cause developmental disorders, e.g., chromosome alignment-maintaining phosphoprotein 1 (CHAMP1). We report on an 8-year-old Japanese girl who presented with a developmental disorder and microcephaly and carries a novel nonsense mutation in CHAMP1. Therefore, CHAMP1 mutation should be considered as a differential diagnosis of global developmental delay and microcephaly.

Impact of the location of the fenestration on Fontan circulation haemodynamics: a three-dimensional, computational model study.

OBJECTIVES: There is no consensus or theoretical explanation regarding the optimal location for the fenestration during the Fontan operation. We investigated the impact of the location of the fenestration on Fontan haemodynamics using a three-dimensional Fontan model in various physiological conditions. METHODS: A three-dimensional Fontan model was constructed on the basis of CT images, and a 4-mm-diameter fenestration was located between the extracardiac Fontan conduit and the right atrium at three positions: superior, middle, and inferior part of the conduit. Haemodynamics in the Fontan route were analysed using a three-dimensional computational fluid dynamic model in realistic physiological conditions, which were predicted using a lumped parameter model of the cardiovascular system. The respiratory effect of the caval flow was taken into account. The flow rate through the fenestration, the effect of lowering the central venous pressure, and wall shear stress in the Fontan circuit were evaluated under central venous pressures of 10, 15, and 20 mmHg. The pulse power index and pulsatile energy loss index were calculated as energy loss indices. RESULTS: Under all central venous pressures, the middle-part fenestration demonstrated the most significant effect on enhancing the flow rate through the fenestration while lowering the central venous pressure. The middle-part fenestration produced the highest time-averaged wall shear stress, pressure pulse index, and pulsatile energy loss index. CONCLUSIONS: Despite slightly elevated energy loss, the middle-part fenestration most significantly increased cardiac output and lowered central venous pressure under respiration in the Fontan circulation.

Relative permittivity measurement during the thrombus formation process using the dielectric relaxation method for various hematocrit values.

The relative permittivity ε' and the dielectric loss ε″ for various hematocrit values H for static bovine blood condition have been measured using the dielectric relaxation method to detect thrombosis in real time. The suitable measurement frequency f m ranged within 60 kHz to 1 MHz, and the relaxation frequency of red blood cells (RBCs) f rc was observed to be 2 MHz. In the f m, the temporal change of normalized ε' exhibited a minimum (called as bottom point). The bottom point was observed to be exponentially shortened as H increased. This characteristic of the ε'* minimum is discussed from three viewpoints: during fibrin formation, direct thrombus formation, and rouleaux formation processes. ε'* during the fibrin formation process decreased over time, irrespective of f. However, ε'* in f m during the direct thrombus formation process and during the aggregation formation process increased immediately and rapidly over time. Therefore, the ε'* bottom point in f m might be the indication of micrometer-scale thrombus formation by RBC aggregation due to fibrin formation.

Risk analysis and detection of thrombosis by measurement of electrical resistivity of blood.

Monitoring of thrombogenic process is very important in ventricular assistance devices (VADs) used as temporary or permanent measures in patients with advanced heart failure. Currently, there is a lack of a system which can perform a real-time monitoring of thrombogenic activity. Electrical signals vary according to the change in concentration of coagulation factors as well as the distribution of blood cells, and thus have potential to detect the thrombogenic process in an early stage. In the present work, we have made an assessment of an instrumentation system exploiting the electrical properties of blood. The experiments were conducted using bovine blood. Electrical resistance tomography with eight-electrode sensor was used to monitor the spatio-temporal change in electrical resistivity of blood in thrombogenic and non-thrombogenic condition. Under non-thrombogenic condition, the resistivity was uniform across the cross-section and average resistivity monotonically decreased with time before remaining almost flat. In contrary, under thrombogenic condition, there was non-uniform distribution across the cross-section, and average resistivity fluctuated with time.