These 62 patients with the Kabuki make-up syndrome (KMS) were collected in a collaborative study among 33 institutions and analyzed clinically, cytogenetically, and epidemiologically to delineate the phenotypic spectrum of KMS and to learn about its cause. Among various manifestations observed, most patients had the following five cardinal manifestations: 1) a peculiar face (100%) characterized by eversion of the lower lateral eyelid; arched eyebrows, with sparse or dispersed lateral one-third; a depressed nasal tip; and prominent ears; 2) skeletal anomalies (92%), including brachydactyly V and a deformed spinal column, with or without sagittal cleft vertebrae; 3) dermatoglyphic abnormalities (93%), including increased digital ulnar loop and hypothenar loop patterns, absence of the digital triradius c and/or d, and presence of fingertip pads; 4) mild to moderate mental retardation (92%); and 5) postnatal growth deficiency (83%). Thus the core of the phenotypic spectrum of KMS is rather narrow and clearly defined. Many other inconsistent anomalies were observed. Important among them were early breast development in infant girls (23%), and congenital heart defects (31%), such as a single ventricle with a common atrium, ventricular septal defect, atrial septal defect, tetralogy of Fallot, coarctation of aorta, patent ductus arteriosus, aneurysm of aorta, transposition of great vessels, and right bundle branch block. Of the 62 KMS patients, 58 were Japanese, an indication that the syndrome is fairly common in Japan. It was estimated that its prevalence in Japanese newborn infants is 1/32,000. All the KMS cases in this study were sporadic, the sex ratio was even, there was no correlation with birth order, the consanguinity rate among the parents was not high, and no incriminated agent was found that was taken by the mothers during early pregnancy. Three of the 62 patients had a Y chromosome abnormality involving a possible common breakpoint (Yp11.2). This could indicate another possibility, i.e., that the KMS gene is on Yp11.2 and that the disease is pseudoautosomal dominant. These findings are compatible with an autosomal dominant disorder in which every patient represents a fresh mutation. The mutation rate was calculated at 15.6 X 10(6).

SYNOPSIS Polyimides

No abstract

This study aims to design a nervous system model to drive the realistic muscle-driven legs for the locomotion of a quadruped robot. We evaluate our proposed nervous system model with a hind leg simulated model and robot. We apply a two-level central pattern generator for each leg, which generates locomotion rhythms and reproduces cat-like leg trajectories by driving different sets of the muscles at any timing during one cycle of moving the leg. The central pattern generator receives sensory feedback from leg loading. A cat simulated model and a robot with two hind legs, each with three joints driven by six muscle models, are controlled by our nervous system model. Even though their hind legs are forced backward at a wide range of speeds, they can adapt to the speed variation by autonomously adjusting its stride and cyclic duration without changing any parameters or receiving any descending inputs. In addition to the autonomous speed adaptation, the cat hind leg robot switched from a trot-like gait to a gallop-like gait while speeding up. These features can be observed in existing animal locomotion tests. These results demonstrate that our nervous system is useful as a valid and practical legged locomotion controller.

Kapton-type polyimide films that were cold-drawn at the stage of polyamic acids were carbonized. Electrical conductivity of the carbonized films increased proportionally with the draw ratio from 70 S/cm for the undrawn films up to almost 200 S/cm for the 70% drawn films.