Home  About us  Contact
 

Anatomical Defects (anatomical + defect)

Distribution by Scientific Domains
Life Sciences50%

Selected Abstracts

Inactivation of the gene for the nuclear receptor tailless in the brain preserving its function in the eye

EUROPEAN JOURNAL OF NEUROSCIENCE, Issue 8 2007
Thorsten Belz
Abstract During embryogenesis, tailless, an orphan member of the nuclear receptor family, is expressed in the germinal zones of the brain and the developing retina, and is involved in regulating the cell cycle of progenitor cells. Consequently, a deletion of the tailless gene leads to decreased cell number with associated anatomical defects in the limbic system, the cortex and the eye. These structural abnormalities are associated with blindness, increased aggressiveness, poor performance in learning paradigms and reduced anxiousness. In order to assess the contribution of blindness to the behavioural changes, we established tailless mutant mice with intact visual abilities. We generated a mouse line in which the second exon of the tailless gene is flanked by loxP sites and crossed these animals with a transgenic line expressing the Cre recombinase in the neurogenic area of the developing brain, but not in the eye. The resulting animals have anatomically indistinguishable brains compared with tailless germline mutants, but are not blind. They are less anxious and much more aggressive than controls, like tailless germline mutants. In contrast to germline mutants, the conditional mutants are not impaired in fear conditioning. Furthermore, they show good performance in the Morris water-maze despite severely reduced hippocampal structures. Thus, the pathological aggressiveness and reduced anxiety found in tailless germline mutants are due to malformations caused by inactivation of the tailless gene in the brain, but the poor performance of tailless null mice in learning and memory paradigms is dependent on the associated blindness. [source]

A study of inherited short tail and taillessness in Pembroke Welsh corgi

JOURNAL OF SMALL ANIMAL PRACTICE, Issue 5 2008
A. Indrebų
Objectives: To study whether natural short tail in adult Pembroke Welsh corgi is associated with congenital spinal defects. To report anatomical defects in two newborn tailless puppies from short-tailed parents, and to check whether they were homozygous for the dominant mutation in the T-gene (C295G). Methods: The vertebral column of 19 adult dogs with natural short tail, from short-tail×long-tail crossings, was radiographically examined. Two tailless puppies were radiographed and submitted for necropsy. Samples from the puppies, their parents and five siblings were analysed for the mutation of the T-gene. Results: No congenital spinal defects were diagnosed in any of the short-tailed dogs. The tailless puppies had anorectal atresia, had multiple spinal defects and were homozygous for the mutation in the T-gene. Clinical Significance: As tail docking is forbidden in many countries, breeding Pembroke Welsh corgis with natural short tail is becoming increasingly common. Previous studies indicated that the mutation in homozygotes is lethal in early fetal life. It is of clinical significance that natural short tail is probably not associated with congenital spinal defects, as is known from studies of other species, and that homozygotes for this mutation with serious anatomical defects may be born. [source]

Pulsed electromagnetic fields affect osteoblast proliferation and differentiation in bone tissue engineering

BIOELECTROMAGNETICS, Issue 7 2007
Ming-Tzu Tsai
Abstract Bone tissue engineering is an interdisciplinary field involving both engineers and cell biologists, whose main purpose is to repair bone anatomical defects and maintain its functions. A novel system that integrates pulsed electromagnetic fields (PEMFs) and bioreactors was applied to bone tissue engineering for regulating osteoblast proliferation and differentiation in'vitro. Osteoblasts were acquired from the calvaria of newborn Wistar rats and isolated after sequential digestion. Poly(DL -lactic-co-glycolic acid) (PLGA) scaffolds were made by the solvent merging/particulate leaching method. Osteoblasts were seeded into porous PLGA scaffolds with 85% porosity and cultured in bioreactors for the 18-day culture period. Cells were exposed to PEMF pulsed stimulation with average (rms) amplitudes of either 0.13, 0.24, or 0.32 mT amplitude. The resulting induced electric field waveform consisted of single, narrow 300 µs quasi-rectangular pulses with a repetition rate of 7.5'Hz. The results showed that PEMF stimulation for 2 and 8 h at .13 mT increased the cell number on days 6 and 12, followed by a decrease on day 18 using 8 h stimulation. However, ALP activity was decreased and then increased on days 12 and 18, respectively. On the other hand, PEMF-treated groups (irrespective of the stimulation time) at 0.32 mT inhibited cell proliferation but enhanced ALP activity during the culture period. These findings suggested that PEMF stimulation with specific parameters had an effect on regulating the osteoblast proliferation and differentiation. This novel integrated system may have potential in bone tissue engineering. Bioelectromagnetics 28:519,528, 2007. © 2007 Wiley-Liss, Inc. [source]