Biomedical subjects

S M Yandow

Publications and source records attributed to S M Yandow.

5 recordsLinked to original sources

PubMed2000

Deficiency of the alpha-subunit of the stimulatory G protein and severe extraskeletal ossification.

Progressive osseous heteroplasia (POH) is a rare disorder characterized by dermal ossification beginning in infancy followed by increasing and extensive bone formation in deep muscle and fascia. We describe two unrelated girls with typical clinical, radiographic, and histological features of POH who also have findings of another uncommon heritable disorder, Albright hereditary osteodystrophy (AHO). One patient has mild brachydactyly but no endocrinopathy, whereas the other manifests brachydactyly, obesity, and target tissue resistance to thyrotropin and parathyroid hormone (PTH). Levels of the alpha-subunit of the G protein (Gsalpha) were reduced in erythrocyte membranes from both girls and a nonsense mutation (Q12X) in exon 1 of the GNAS1 gene was identified in genomic DNA from the mildly affected patient. Features of POH and AHO in two individuals suggest that these conditions share a similar molecular basis and pathogenesis and that isolated severe extraskeletal ossification may be another manifestation of Gsalpha deficiency.

Adult↗

PubMed1996

Benign soft-tissue lesions in children.

This article is a review of the common benign soft-tissue lesions of the spine and extremities. Reviewed are the pathophysiology, natural history, appropriate work-up, and treatment options. A recommendation is given to consider the diagnosis as possible malignancy and approach such lesions with caution.

Blood Vessels↗

PubMedDate not supplied

Autogenic bone marrow injections as a treatment for simple bone cyst.

Simple bone cyst (SBC) is a benign fluid-filled cavity found primarily at the proximal ends of long bones in children. Treatments proposed for SBC range from observation to intralesional curettage and bone grafting, which are all associated with uncertainty and complications. Because of these factors, a relatively noninvasive protocol with osteoinductive autogenic bone marrow was instituted. Twelve patients were identified with SBCs. Bone marrow was aspirated from the patient's iliac crests and injected into the cyst cavity. Follow-up ranged from 9 to 57 months. Eight (67%) patients demonstrated substantial healing, two (17%) showed partial healing, and two (17%) did not respond to bone marrow therapy. The advantages suggested by bone marrow injection over the currently practiced methods include a higher success rate with a single injection and earlier healing.

Adolescent↗

PubMedDate not supplied

Clinical correlation to genetic variations of hereditary multiple exostosis.

Hereditary multiple exostosis (HME) is an autosomal dominant disorder leading to polyostotic periphyseal osteochondroma formation. These tumorous lesions can cause growth disturbances, painful local symptoms, restriction of joint motion, and neurologic compromise. Malignant transformation has been noted. The reports of the incidence of these complications vary widely in the literature. Recently, genetic lineage mapping disclosed three locations for HME with loci on chromosomes 8, 11, and 19. It is possible that these three genotypes may result in different phenotypic expression of HME and thus explain the variable manifestations of the disease. This study attempts to record the clinical findings of HME patients who have undergone genetic mapping to determine whether varying clinical patterns may exist for each genotype of HME.

Adult↗

PubMedDate not supplied

Femoral-shaft fractures in children: a comparison of immediate casting and traction.

Two hundred fifty-three femoral-shaft fractures in 246 pediatric patients treated between 1976 and 1986 were retrospectively reviewed, and 186 fractures in 181 patients were available for demographic review. Fifty-nine patients underwent spica casting within 48 h of injury, whereas 127 were placed in traction and underwent delayed casting (>48 h from injury). Fifty-five patients in the traction group and 33 in the immediate-casting group were locatable for long-term follow-up of 8.9 years average (range, 4-20 years). There was no clinically significant difference in limb-length inequalities, or rotational or angular deformities between the two groups at initial casting or at final follow-up. Hospital stay averaged 17.3 days in the traction group and 2.2 days in the immediate-casting group (p < 0.001). Total estimated charges, at current rates, demonstrated an 83% greater patient charge in the traction group than in the immediate-casting group.

Adolescent↗