ABSTRACT
Hereditary hearing impairment affects about 1 in 1000 newborns. In most cases hearing loss is non-syndromic with no other clinical features, while in other families deafness is associated with specific clinical abnormalities. Analysis of large families with non-syndromic and syndromic deafness have been used to identify genes or gene locations that cause hearing impairment. The present report describes a large Norwegian family with autosomal dominant non-syndromic, progressive high tone hearing loss with linkage to 1q21-q23. A maximum LOD score of 7.65 (theta = 0.00) was obtained with the microsatellite marker D1S196. Analysis of recombinant individuals maps the deafness gene (DFNA7) to a 22 cM region between D1S104 and D1S466. The region contains several attractive candidate genes. This report supports the idea of extensive genetic heterogeneity in hereditary hearing impairment and represents the first localization of a deafness gene in a Norwegian family.
Subject(s)
Chromosomes, Human, Pair 1/genetics , Genes, Dominant , Hearing Loss, High-Frequency/genetics , Hearing Loss, Sensorineural/genetics , Adolescent , Age of Onset , Child , Child, Preschool , Chromosome Mapping , Female , Genetic Linkage , Humans , Infant, Newborn , Lod Score , Male , Microsatellite Repeats , Norway , PedigreeABSTRACT
In a 57-year-old female with a metastatic renal cell carcinoma lung metastases decreased after nephrectomy. Simultaneously, she developed a 3 cm large brain metastases with clinical signs of hemiparesis. Palliation treatment consisted of a 6-week course of oral Dexamethasone. One year later the lung and brain metastases had regressed completely as evidenced by chest X-ray and cerebral computer tomography. The role of corticosteroid treatment for the spontaneous regression is discussed.
Subject(s)
Brain Neoplasms/secondary , Carcinoma, Renal Cell/secondary , Kidney Neoplasms , Lung Neoplasms/secondary , Neoplasm Regression, Spontaneous , Brain Edema/drug therapy , Dexamethasone/therapeutic use , Female , Humans , Middle AgedABSTRACT
The possible association between selected cancers and polluted work places has been studied in a hospital-based, case-control study. By dividing all jobs in the participants working career into "polluted" and "clean", a crude measure for the total industrial exposure a worker experiences throughout his life was established. Among 103 age-matched, case-control pairs the overall estimated relative risk (RR) for exposed subjects (greater than or equal to 10 years in a polluted work place) of developing cancer compared to nonexposed (less than 10 years in a polluted work place) was 1.1. The only subgroup where a significant difference was found between the cases and the controls was the lung cancer subgroup (RR = 4.0, p = 0.02, two-tailed). When the 30 lung cancer cases were compared to an alternative control group consisting of 60 subjects matched for age and smoking habits, an estimated RR of 4.5 was found. A moderate, but not significant association between lung cancer and definite asbestos exposure was also found (RR: 2.3). As most workers are exposed to a variety of industrial agents throughout their working careers, further development of methods for characterizing combined exposures are needed, both for retrospective and prospective purposes.
