The genetics of deafness

Article Abstract:

Because the exact cause of hearing loss is not known for a substantial proportion of deaf people, it is difficult to determine the prevalence of hereditary deafness, a common congenital problem. The incidence of congenital deafness in the European population is 0.9 per 1,000 live births, half of which may be attributed to genetic causes. Thirty percent of genetically determined deafness is associated with a syndrome. In the remaining 70 percent of cases, genetically determined deafness may be difficult to distinguish from deafness caused by environmental factors. Genetic counseling can be offered to persons with genetically determined deafness that occurs in a syndrome. However, the patterns of inheritance in genetically determined deafness that is not associated with a syndrome are more difficult to determine and counseling may be more complex. Inheritance patterns are further complicated by the high incidence of marriages between deaf persons. The detection of gene mutations by analysis of DNA may help in diagnosis and genetic counseling. However, hereditary deafness cannot be completely explained on the basis of gene mutations, because couples with nonsyndromic genetically determined deafness can have children with normal hearing. The suggests that this form of deafness has a recessive hereditary pattern but involves different loci along the gene. Some of the genes responsible for syndrome-related deafness have been identified. In addition, genes that code for the protein collagen appear to be associated with genes responsible for deafness associated with the Stickler-Marshall syndrome. A possible approach to studying genes that are responsible for nonsyndromic deafness may involve use of the experimental mouse model, which has DNA sequences similar to those in the human genes. The identification of genes capable of causing deafness would help to accurately detect carriers of the gene, and would lead to more effective genetic counseling and early diagnosis of high-risk individuals. (Consumer Summary produced by Reliance Medical Information, Inc.)

Causes of, Genetic aspects, Deafness, editorial, Deaf services, Services for the deaf

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Imaging in influenza A encephalitis

Article Abstract:

Influenza (''flu'') is caused by influenza virus type A, B, or C. Infection with these viruses produces symptoms of fever, chills, weakness, headache, muscle pain and cough. This condition is rarely fatal. However, in rare cases the influenza A virus can cause encephalitis (inflammation of the brain). It may be accompanied by neurological symptoms, such as eye muscle paralysis, and by mental confusion or loss of consciousness. It can be difficult to diagnose because of the wide range of symptoms and because the virus is rarely isolated from the brain or spinal fluid. The cases of two children are reported who developed encephalitis following infection with influenza A virus. In both cases, the encephalitis appeared within three days of the lung symptoms. Both patients had high fever and loss of consciousness, and required mechanical breathing assistance. Computed tomography and magnetic resonance imaging (MRI) were performed to examine the brain. In both cases there were signs of inflammation, confirming a diagnosis of encephalitis. One patient was treated with acyclovir (an antiviral drug) and thiamine, and the other with acyclovir and dexamethasone. One patient made a normal recovery and was discharged from the hospital after one month. The other patient did not make a full recovery and was immobile, expressionless and unable to speak five months after treatment. Computed tomography and MRI can be used to make a diagnosis early on in the course of encephalitis, whereas blood testing may not show signs of disease until 10 days after infection. These imaging techniques may be beneficial for the diagnosis of encephalitis during outbreaks of influenza. (Consumer Summary produced by Reliance Medical Information, Inc.)

Diagnosis, Complications and side effects, Influenza, CT imaging, CAT scans, Magnetic resonance imaging, Influenza viruses, Encephalitis

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