Biomedical subjects

M L Bartley

Publications and source records attributed to M L Bartley.

3 recordsLinked to original sources

PubMed1998

Association of COL1A1 and otosclerosis: evidence for a shared genetic etiology with mild osteogenesis imperfecta.

HYPOTHESIS: Otosclerosis is related to mild osteogenesis imperfecta with genetic defects in type I collagen. BACKGROUND: Otosclerosis is a common bone disease of the human otic capsule that has an underlying hereditary predisposition. The histopathology and clinical manifestations are strikingly similar to the milder forms of osteogenesis imperfecta in which mutations of type I collagen genes have been established as the underlying cause. METHODS: The authors investigated the genetic basis of otosclerosis by conducting an association study using polymorphic DNA markers from patients with clinical otosclerosis and random control subjects. RESULTS: This study showed a significant association between clinical otosclerosis and the type I collagen COL1A1 gene using three different polymorphic markers within the gene. CONCLUSIONS: Some cases of clinical otosclerosis may be related to mutations within the COL1A1 gene that are similar to those found in mild forms of osteogenesis imperfecta and result in null expression of the mutant allele.

Alleles↗

PubMed1992

Argon laser stapedectomy: comparison to traditional fenestration techniques.

A retrospective review of all stapedectomies performed at the Massachusetts Eye and Ear Infirmary over a 13 month period was undertaken to compare the results of argon laser stapedectomy to conventional footplate fenestration techniques. Despite the fact that it was new and unfamiliar to the surgical staff, the complication rate was lower with the argon laser than with footplate fenestration by traditional pick or drill techniques. The incidence of footplate fracture or removal preventing use of a small fenestra technique was five times as likely to occur with traditional instruments as with the argon laser (p < 0.025). In revision stapedectomy sensorineural hearing loss was four times as likely to occur with traditional instruments as with the argon laser (p < or = 0.05). The argon laser did not alter the operating time. Though not ideal for every case, the argon laser endo-otoprobe offers the surgeon a significant new tool to improve the outcome in stapes surgery.

Adolescent↗

PubMedDate not supplied

Malleus grip prosthesis.

The malleus grip prosthesis is designed for ears with conductive hearing loss caused by pathologic conditions of the stapes in association with pathologic conditions of the malleus or incus. The malleus grip procedure was performed on 220 ears, and follow-up studies are available on 203. Mild to profound sensorineural hearing losses occurred in 16 (8.37%). The remaining 187, on the first postoperative test, had an average air-bone gap of 14 dB, and subsequent examinations on 100 of them showed no significant change with the passage of time. The procedure is technically more difficult than stapes surgery for otosclerosis, and success is highly dependent upon selection of appropriate cases and meticulous implantation of the prosthesis.

Deafness↗