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Distortion product otoacoustic emissions (DPOAEs) were examined in 15 normal-hearing African-American children between the ages of 6 and 14 years with homozygous sickle cell disease (SCD), who were on a regimen of hydroxyurea (HDU), a drug that reduces inflammatory processes and symptoms of SCD; a matched group of 15 African-American children with homozygous SCD not on HDU; and 15 African-American children with normal hemoglobin. DPOAEs were evoked by 13 primary tone pairs with f2 frequencies ranging from 1000 to 4500 Hz. Increased DPOAE amplitudes, believed to be a precursor of eventual hearing loss, were evident in children with SCD who were not receiving HDU. Those taking HDU had DPOAE amplitudes similar to normal controls. These findings suggest that HDU, in addition to reducing symptoms of SCD, may play a role in inhibiting or preventing cochlear pathology and hearing loss in individuals with SCD.  相似文献   
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BACKGROUND & AIMS: Cancer risks for mismatch repair gene mutation carriers have been derived almost exclusively using families ascertained owing to their strong cancer family history. These may be overestimates, due to analytic problems, and not generalizable. We estimated average cancer risks for mutations identified in population-based early onset colorectal cancer cases (probands) unselected for family history. METHODS: Data were cancer histories and mutation status (carrier, non-carrier, or unknown) of 17 mismatch repair gene mutation carrier probands with colorectal cancer diagnosed before age 45 (8 hMLH1, 4 hMSH2, 4 hMSH6, 1 hPMS2) and their first- and second-degree relatives. We used modified segregation analysis theory, adjusting for the family being ascertained through the proband being an early onset mutation carrier. RESULTS: Eleven carrier probands (64%) were from families meeting the Amsterdam II criteria for hereditary nonpolyposis colorectal cancer. The cumulative risk for colorectal cancer (95% confidence interval) to age 70 was 45% (29%-62%) for men and 38% (19%-51%) for women. Corresponding risks were 67% (47%-84%) and 72% (48%-85%) for any hereditary nonpolyposis colorectal cancer-related cancer. Compared with the general population, colorectal cancer incidence for men was approximately 180-fold higher before age 50, but about the same after age 50. For women, incidence was approximately 100-fold higher before age 50 and 7-fold higher thereafter. CONCLUSIONS: For carriers of the mutations in the mismatch repair genes that cause early onset colorectal cancer, colorectal cancer increases rapidly until age 50, and the incidence decreases to general population levels at older ages.  相似文献   
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A growing number of jurisdictions have introduced legislation to give children the right to information about, and identity of, 'their' gamete donor. This has been accompanied by a reduction in the social stigma associated with infertility and building families with the assistance of donated gametes. This changing culture has meant that an increasing number of parents are seeking assistance regarding how to share their family history, including the donor insemination conception story. The literature suggests that the sharing of information is best undertaken when the children are young. There is virtually no literature available for parents who wish to share their family history with adult offspring, or for those professionals whose guidance they may seek. This paper addresses this emerging area of practice. It is suggested that there are three main areas that will be of assistance with any attempt to understand the individual and family dynamics involved: identity and self-image, stigma and power. Strategies and suggestions emerging from each of these areas of knowledge are outlined. This paper aims to generate discussion and to encourage others to share their clinical experiences in this area.  相似文献   
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