A girl with delayed growth in body height and weight, retarded psychomotor development, facial dysmorphism, high-arched palate, extension defects of elbows, and a probable hearing impairment is presented. A chromosome investigation by both conventional and high-resolution banding techniques revealed an apparently pure interstitial deletion of the proximal segment of the short arm of chromosome 3 (46,XX,del(3) (p11p14.2) de novo). The paternal karyotype is 47,XYY. The clinical features of the patient are compared with those of two previously reported cases in the literature with an interstitial 3p deletion.

Diabetic cystopathy (DCP) is one of the most common complications of diabetes mellitus (DM). A previous study reported that caffeine may improve bladder dysfunction in rats with DM. The aim of the present study was to investigate the mechanisms behind the capacity for caffeine to improve bladder function in rats with DM. Sprague Dawley rats were divided into four groups: control, caffeine, DM and DM plus caffeine treatment (DM + caffeine). Bladder function was measured by urodynamic analyses. The levels of nerve growth factor (NGF), brain-derived neurotrophic factor (BDNF) and calcitonin gene-related peptide (CGRP) in the bladder tissue were detected by ELISA. Apoptosis in the dorsal root ganglion (DRG) was detected by terminal deoxynucleotidyl transferase-mediated dUTP nick end labeling assay. The expression levels of B-cell lymphoma-2 (Bcl-2), Bcl-2-associated X protein (Bax), caspase-3, cleaved caspase-3, caspase-9 and cleaved caspase-9 proteins in the DRG were detected by western blotting. Following treatment with caffeine, the urination time and micturition interval of rats with DM were improved, the bladder wet weight was decreased, and the maximum voiding pressure was increased. Relative to that in the DM group, the expression levels of NGF, BDNF and CGRP in the bladder tissue of DM + caffeine rats increased; cellular apoptosis in the DRG of DM + caffeine rates decreased; and the expression levels of Bcl-2, Bax, cleaved caspase-3 and cleaved caspase-9 proteins in the DRG of DM + caffeine rats were restored to a certain extent. In conclusion, caffeine promotes bladder function in rats with DM through a protective effect on DRG.

Increasing workspace and improving dexterity are important tasks for the design of parallel machine tools. The workspace of a crossbar parallel machine tool with constraints is obtained by using a 3D search method based on inverse kinematics. The new Jacobian matrix of the machine is also derived by using the natural coordinate method. Dexterity distribution of the machine tool is obtained on the basis of the workspace and the new Jacobian matrix. Influences of the structural parameters on the workspace volume index (WVI) and global dexterity index (GDI) are analyzed. Structural optimization is conducted by treating the WVI and GDI as the global optimization goals. Unlike the initial data, the optimized results increased by 0.43 and 0.34 times.

Using a high-resolution chromosome banding technique, which provided more elongated and distinctly banded chromosomes, some new evidence was obtained for localization of break points in Burkitt lymphoma marker chromosomes. As a result, the characteristic translocation between chromosomes 8 and 14 was designated as t(8;14) (q24.1;q32.5) and the deletion of chromosome 15 was designated as del(15) (q13q15).

A familial pericentric inversion of chromosome 8 is described. The break points were localized by a high resolution chromosome banding technique and found to be inv(8)(p23.108q12.100). None of the family members had an unbalanced product of the inversion. There were no phenotypical abnormalities in the carriers. The break points and segregation pattern are compared with those of previously reported pericentric inversions of chromosome 8.