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Limb Deformities (limb + deformity)

Distribution by Scientific Domains

Medical Sciences	75%

Selected Abstracts

Pathophysiology of spastic paresis.

MUSCLE AND NERVE, Issue 5 2005
II: Emergence of muscle overactivity
Abstract In the subacute and chronic stages of spastic paresis, stretch-sensitive (spastic) muscle overactivity emerges as a third fundamental mechanism of motor impairment, along with paresis and soft tissue contracture. Part II of this review primarily addresses the pathophysiology of the various forms of spastic overactivity. It is argued that muscle contracture is one of the factors that cause excessive responsiveness to stretch, which in turn aggravates contracture. Excessive responsiveness to stretch also impedes voluntary motor neuron recruitment, a concept termed stretch-sensitive paresis. None of the three mechanisms of impairment (paresis, contracture, and spastic overactivity) is symmetrically distributed between agonists and antagonists, which generates torque imbalance around joints and limb deformities. Thus, each may be best treated focally on an individual muscle-by-muscle basis. Intensive motor training of the less overactive muscles should disrupt the cycle of paresis,disuse,paresis, and concomitant use of aggressive stretch and focal weakening agents in their more overactive and shortened antagonists should break the cycle of overactivity,contracture,overactivity. Muscle Nerve, 2005 [source]

Second-trimester diagnosis of complete trisomy 9 associated with abnormal maternal serum screen results, open sacral spina bifida and congenital diaphragmatic hernia, and review of the literature

PRENATAL DIAGNOSIS, Issue 6 2004
Chih-Ping Chen
Abstract Objectives To present the prenatal diagnosis of complete trisomy 9 and to review the literature Case A 25-year-old primigravida woman was referred for amniocentesis at 19 weeks' gestation because of abnormal maternal screen results showing an elevated maternal serum alpha-fetoprotein (MSAFP) level and a low maternal serum free ,-human chorionic gonadotrophin (MSfree,-hCG) level. Results Genetic amniocentesis revealed a karyotype of 47,XX,+9 in the amniocytes and an elevated amniotic fluid AFP level. Ultrasonography demonstrated intrauterine growth restriction, left congenital diaphragmatic hernia, fetal ascites, a sacral spina bifida, a horseshoe kidney, and absence of amniotic fluid. Ultrafast magnetic resonance imaging scans further depicted detailed anatomical configurations of the major congenital malformations. The pregnancy was terminated subsequently. The proband postnatally manifested characteristic facial dysmorphism, limb deformities, and an open sacral spina bifida with myelomeningocele. Cytogenetic analysis of the skin fibroblasts revealed a karyotype of 47,XX,+9. Molecular studies of various uncultured fetal tissues using microsatellite markers confirmed a diagnosis of complete trisomy 9 resulting from a meiotic I nondisjunction error of maternal origin. Conclusion Complete trisomy 9 can be identified prenatally with advanced maternal age, sonographically detected fetal structural abnormalities, and abnormal maternal serum screen results. Fetuses with complete trisomy 9 may be associated with congenital diaphragmatic hernia, an open sacral spina bifida, elevated MSAFP, and low MSfree,-hCG. We suggest detailed prenatal imaging investigations and genetic analyses of multiple fetal tissues when a prenatal diagnosis of trisomy 9 is made. Copyright © 2004 John Wiley & Sons, Ltd. [source]

Muscular Dystrophy in female Dogs

JOURNAL OF VETERINARY INTERNAL MEDICINE, Issue 3 2001
G. Diane Shelton
The most common form of muscular dystrophy in dogs and humans is caused by mutations in the dystrophin gene. The dystrophin gene is located on the X chromosome, and, therefore, disease-causing mutations in dystrophin occur most often in males. Therefore, females with dystrophin deficiency or other forms of muscular dystrophy may be undiagnosed or misdiagnosed. Immunohisto-chemistry was used to analyze dystrophin and a number of other muscle proteins associated with muscular dystrophy in humans, including sarcoglycans and laminin ,2, in muscle biopsy specimens from 5 female dogs with pathologic changes consistent with muscular dystrophy. The female dogs were presented with a variety of clinical signs including generalized weakness, muscle wasting, tremors, exercise intolerance, gait abnormalities, and limb deformity. Serum creatine kinase activity was variably high. One dog had no detectable dystrophin in the muscle; another was mosaic, with some fibers normal and others partly dystrophin-deficient. A 3rd dog had normal dystrophin but no detectable laminin ,2. Two dogs could not be classified. This study demonstrates the occurrence of dystrophin- and laminin ,2-associated muscular dystrophy and the difficulty in clinical diagnosis of these disorders in female dogs. [source]

Use of a retrograde femoral nail in a patient with McCune,Albright syndrome

ANZ JOURNAL OF SURGERY, Issue 12 2003
John D. Garvan
McCune,Albright Syndrome is a rare condition characterized by endocrine abnormalities, precocious puberty, pigmented skin lesions and polyostotic fibrous dysplasia with consequent fractures and limb deformity. Patients with this syndrome might have had multiple operations on a limb and might also have extensive internal fixation in-situ. We review the case of a 41-year-old woman with McCune,Albright syndrome, who presented with a pathological fracture of her left femur below a long plate and screws. Our management of this challenging problem included the use of a retrograde femoral nail, which, because of the need to retain pre-existing internal fixation, had to be locked proximally through a hole in a femoral plate. This technique, combined with reaming, and thus bone grafting of the fracture, and also perioperative infusions of pamidronate, allowed an early recovery and return to premorbid function for the patient. In the present study we detail our technique and discuss its advantages over other possible methods of treatment. [source]