Transcriptional Changes Associated with Amyoplasia.

Arthrogryposis, which represents a group of congenital disorders, includes various forms. One such form is amyoplasia, which most commonly presents in a sporadic form in addition to distal forms, among which hereditary cases may occur. This condition is characterized by limited joint mobility and muscle weakness, leading to limb deformities and various clinical manifestations.

Cellular and Molecular Effects of the Bruck Syndrome-Associated Mutation in the Gene.

Bruck syndrome is a rare autosomal recessive disorder characterized by increased bone fragility and joint contractures similar to those in arthrogryposis and is known to be associated with mutations in the () and () genes. These genes encode endoplasmic reticulum proteins that play an important role in the biosynthesis of type I collagen, which in turn affects the structure and strength of connective tissues and bones in the body. Mutations are associated with disturbances in both the primary collagen chain and its post-translational formation, but the mechanism by which mutations lead to Bruck syndrome phenotypes has not been determined, not only because of the small number of patients who come to the attention of researchers but also because of the lack of disease models.

Treatment of the Lower Extremity Contracture/Deformities.

Lower extremity deformities of patients with arthrogryposis multiplex congenita present a wide spectrum of severity and deformity combinations. Treatment goals range from merely ensuring comfortable seating and shoe wear, to fully independent and active ambulation, but the overarching intention is to help realize the patient's greatest potential for independence and function. Treatment of hip and knee contractures and dislocations has become more interventional, whereas treatment of foot deformities has paradoxically become much less surgical.

Baromedicine today--rational uses of hyperbaric oxygen therapy.

Compressed air, and more recently hyperbaric oxygen, have been used and misused in medical treatment for more than 300 years. Advances in physiology have led to rational protocols for hyperbaric oxygen use. Hyperbaric oxygen will enhance wound healing by fibroblast and capillary proliferation, suppress infection, reduce edema, reverse CNS damage from carbon monoxide and cyanide poisoning, and reduce clostridial alpha toxins.

Enhanced mutagenic effect of a 60 Hz time-varying magnetic field on numbers of azide-induced TA100 revertant colonies.

Forty-eight hours exposure to a two Gauss (0.2 mT) rms 60 Hz time varying sinusoidal electromagnetic field increased the number of azide induced TA100 revertant colonies of Salmonella typhimurium 14% as compared with controls in the ambient < 2 milli-Gauss 60 Hz field. In the absence of the electromagnetic field, the numbers of mutant colonies grown within and outside the non-energized coil were nearly identical.