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Biomedical subjects

Ivan J Keogh

Publications and source records attributed to Ivan J Keogh.

4 recordsLinked to original sources
PubMed2005

Pediatric cholesteatoma: canal wall window alternative to canal wall down mastoidectomy.

OBJECTIVE: A previous pilot series described a hybrid mastoidectomy technique, canal wall window (CWW), which substituted for the canal wall down (CWD) procedure and involved slitting the posterior canal wall. The current, larger series compares the results of the CWW procedure with conventional surgical techniques. STUDY DESIGN: Retrospective analysis of 78 pediatric ears. SETTING: Academic tertiary referral center. PATIENTS: The mean patient age was 13.5 years. MAIN OUTCOME MEASURE(S): The data analyzed included ears later requiring conversion from CWW to CWD, dry/moist ear results, recidivation determined by two separate methods, and audiometric data statistically analyzed using independent-samples analysis (unpaired, two-tailed Student's t test). RESULTS: First, of 42 CWW ear procedures, 6 (14%) later required conversion to CWD. Second, dry ear results were as follows: for CWW, 94%; for CWD, 92%; and for CWU (canal wall up), 90%. Third, recidivation determined at 1 year (standard rate) was, for CWW, 19.5%; for CWD, 0%; and for CWU, 7.7%; the at-risk calculation rate was, for CWW, 27%; for CWD, 0%; and for CWU, 8.3%. The 6-year recidivation rate for all three surgical techniques was 0%. 4). The mean preoperative-to-postoperative four-tone air-bone gap change was, for CWW, from 29.7 to 26.4 dB; for CWD, from 32.9 to 39.0 dB; and for CWU, from 21.0 to 25.2 dB (postoperative CWW to CWD, p < 0.005). A postoperative air-bone gap result of 0 to 20 dB was achieved as follows: with CWW, in 13 of 36 ears; with CWD, in 2 of 14 ears; and with CWU, in 9 of 22 ears. CONCLUSION: Frequently, a CWW procedure can be substituted for a traditional CWD procedure. In the extended series, the CWW technique continued to provide hearing results similar to CWU rather than to CWD procedures in a young population who will bear the surgical outcome for many decades.

Adolescent↗
PubMed2004

Clinical and genetic linkage analysis of a large Venezuelan kindred with Usher syndrome.

OBJECTIVE: To undertake a comprehensive investigation into the very high incidence of congenital deafness on the Macano peninsula of Margarita Island, Venezuela. METHODS: Numerous visits were made to the isolated island community over a 4-year-period. During these visits, it became apparent that a significant number of individuals complained of problems with hearing and vision. Socioeconomic assessments, family pedigrees and clinical histories were recorded on standard questionnaires. All individuals underwent thorough otolaryngologic and ophthalmologic examinations. Twenty milliliters of peripheral venous blood was obtained from each participant. A genome-wide linkage analysis study was performed. Polymorphic microsatellite markers were amplified by polymerase chain reaction and separated on polyacrylamide gels. An ABI 377XL sequencer was used to separate fragments and LOD scores were calculated by using published software. RESULTS: Twenty-four families were identified, comprising 329 individuals, age range 1-80 years, including 184 children. All families were categorized in the lower two (least affluent) socioeconomic categories. A high incidence of consanguinity was detected. Fifteen individuals (11 adults, 4 children) had profound congenital sensorineural hearing loss, vestibular areflexia and retinitis pigmentosa. A maximum LOD score of 6.76 (Linkage >3.0), between markers D11s4186 and D11s911, confirmed linkage to chromosome 11q13.5. The gene myosin VIIA (MYO7A) was confirmed in the interval. Clinical and genetic findings are consistent with a diagnosis of Usher syndrome 1B for those with hearing and vision problems. CONCLUSIONS: We report 15 Usher syndrome 1B individuals from a newly detected Latin American socio-demographic origin, with a very high prevalence of 76 per 100,000 population.

Adolescent↗
PubMed2004

Partial tetrasomy of chromosome 22: genetic and surgical implications for otolaryngologists.

Partial tetrasomy of chromosome 22 is a rare multiple congenital anomaly syndrome that is more commonly known as cat-eve syndrome (CES). It is caused by the duplication of a 2-million base region of chromosome 22 (22 pter --> q 11 x 2). The phenotype is extremely variable, and its clinical characteristics include a combination of craniofacial, cardiac, renal, gastrointestinal, and genito-urinary defects. We describe a rare occurrence of CES in a Brazilian family: Three siblings were affected--monozygotic twin boys and their younger brother. All 3 were born to healthy nonconsanguineous parents. On examination, all 3 were found to have strabismus, primary telecanthus, bilateral coloboma iridis, and low-set ears with posterior rotation of the pinnae. Partial tetrasomy of chromosome 22 was confirmed by fluorescent in situ hybridization. To our knowledge, this is the first report of such an occurrence in one family. We discuss the genotype and phenotype of CES, with particular reference to inheritance patterns and craniofacial defects.

Aneuploidy↗