9 результати
BACKGROUND
Contractures of the knee joint cause disability and handicap. Recovering range of motion is recognized by arthritic patients as their preference for improved health outcome secondary only to pain management. Clinical and experimental studies provide evidence that the posterior knee
In the absence of halothane challenge, incubates of skeletal whole-muscle homogenates from malignant-hyperthermia-susceptible humans and pigs exhibit greater free fatty acid production than controls, which has been attributed to elevated phospholipase A2 activity. The present study examines lipid
Very long-chain acyl-CoA dehydrogenase deficiency (VLCADD) is a rare disorder of mitochondrial fatty acid β-oxidation characterized by a spectrum of clinical manifestations. Patients with the adult-onset form can present with muscle pain, rhabdomyolysis and myoglobinuria after physiological stress,
Wiedemann-Rautenstrauch syndrome (WRS) is a rare autosomal recessive condition which represents a complex of symptoms and laboratory findings with unknown cause and pathogenesis. Approximately 30 patients with WRS have been reported. We report here two newborns with WRS from Turkey with clinical and
Based on studies in swine, the malignant hyperthermia syndrome has been postulated to result from an enhanced sensitivity (low threshold) of the Ca2(+)-induced Ca2(+)-release process. However, fatty acid production is elevated in homogenates of skeletal muscle from pigs and humans susceptible to
Restrictions ordered by the U.S. Food and Drug Administration on the use of silicone gel-filled breast implants, as well as patient and surgeon dissatisfaction with the aesthetic results sometimes attained with saline solution-filled implants, have prompted new interest in developing alternative
The purpose of this study was to clarify the characteristics of improved ischemic tolerance induced by severe, short-term food restriction in isolated, perfused rat hearts. Male Wistar (8 week-old) rats were given a food intake equivalent to a 70% reduction on the food intake of ad-libitum fed rats
Lamin A/C (LMNA) gene mutations cause a heterogeneous group of progeroid disorders, including Hutchinson-Gilford progeria syndrome, mandibuloacral dysplasia, and atypical progeroid syndrome (APS). Five of the 31 previously reported patients with APS harbored a recurrent de novo heterozygous LMNA
Mandibuloacral dysplasia (MAD) is a rare autosomal recessive disorder that is characterized by mandibular and clavicular hypoplasia, acroosteolysis, delayed closure of cranial sutures, joint contractures, and mottled cutaneous pigmentation. It is also associated with partial lipodystrophy, but the