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R E DiSimone

Publications and source records attributed to R E DiSimone.

3 recordsLinked to original sources

Answer please. Blount's disease: tibia vara.

Infantile tibia vara, although uncommon compared to normal physiologic bowing, is significant due to the resultant progressive deformities if not diagnosed early. The key radiographic finding is medial tibial metaphyseal beaking and fragmentation. Although the etiology is unclear, it appears to be an acquired growth disturbance of the proximal medial tibial epiphysis, ossification center, and metaphysis rather than any type of avascular necrosis. The Langenskiöld six-stage classification is useful for the diagnostic, prognostic, and treatment staging of the disease. The adolescent form is less common and less severe with only slight irregular thickening of the physis present on radiograph. The MDA appears to be the most reproducible method for measuring angular deformities in both variants of the disease. Treatment of the infantile stages I or II consists of observation and bracing. Stage III or IV disease in children over age 3 years with more than 5 degrees of varus angulation should be treated with corrective valgus osteotomy. Stages V or VI may require repeated surgical treatment with multiple osteotomies and possible contralateral epiphysiodesis. The adolescent form frequently requires surgery when there is significant physical impairment related to the severe genu varum.

Child↗

Gene linkage in neurofibromatosis.

Neurofibromatosis (NF) is a disease of protean manifestations involving tissues of ectodermal and mesodermal origin. Modern terminology divides NF into NF-1 (classically peripheral NF) and NF-2 (classically central NF). Gene linkage will provide many answers to understanding the varied and unpredictable course of NF. Gene linkage may explain phenotypic variations among NF patients, malignant transformation potential of neurofibromas, increased likelihood of malignant sarcomas in NF patients, and possible insight into learning disability in NF patients. Chromosome location has been narrowed to the pericentric region of chromosome 17 for NF-1 and to the center of the long arm of chromosome 22 for NF-2.

Chromosomes, Human, Pair 18↗

The orthopedic manifestation of neurofibromatosis. A clinical experience and review of the literature.

A retrospective review of 47 patients with neurofibromatosis was performed to evaluate the effects of that disease on patient function and disability. Clinical manifestations were distributed as follows: cafe-au-lait markings were the most prevalent manifestation (87%), followed by a positive family history (49%), scoliosis (53%), neurofibromata (19%), and pseudarthrosis of the tibia (19%). The classic scoliosis was resistant to brace treatment; bracing failed in 70% of patients, necessitating spinal fusion. Pseudarthrosis of the tibia can be subdivided into normal, narrow sclerotic, and cystic medullary canal groups. This study supported the theory that tibias with narrow sclerotic medullary canals should be prophylactically braced until skeletal maturity to prevent fracture. Once fractured, the incidence of non-union is high regardless of treatment mode. Eighty percent of patients with pseudarthrosis of the tibia did not heal with multiple bone grafts and were amputated below the knee. Many patients in this study were educable or only mildly mentally retarded, and performed quite well in activities of daily living.

Activities of Daily Living↗