ABSTRACT
OBJECTIVES: Migrainous vertigo (episodic vertigo associated with migraine) is sometimes inherited as an autosomal dominant trait. However, neither disease genes nor loci that might be responsible have been reported. We sought to map the genetic locus for familial migrainous vertigo in a 4-generation family and to define the progression of disease in this family. METHODS: We studied 23 members in a family in whom migrainous vertigo was inherited as an autosomal dominant trait. Clinical information obtained included case histories and results of otolaryngological, neurologic, audiometric, and imaging evaluations. Genome-wide linkage analysis was performed with Affymetrix Genechip Human Mapping 10K microarrays. Genotyping of family members' DNA with microsatellite markers was used to further assess candidate loci identified from the whole-genome scan. RESULTS: Of 23 family members, 10 suffered from migrainous vertigo beginning after 35 years of age. Migraine headaches usually preceded the onset of vertigo by 15 to 20 years. Longitudinal audiometric studies over 12 years showed stable, high-frequency sensorineural hearing loss consistent with presbycusis. Low-frequency or fluctuating hearing loss was not observed. The results of vestibular testing and imaging studies were unremarkable. Genetic analysis defined a 12.0 MB interval on chromosome 5q35 between loci rs244895 and D5S2073 that contained the disease gene (logarithm of odds score, 4.21). CONCLUSIONS: We report the first locus for familial migrainous vertigo, which mapped to 5q35.
Subject(s)
Chromosomes, Human, 4-5 , Migraine Disorders/genetics , Vertigo/genetics , Adult , Aged , Aged, 80 and over , Chromosome Mapping , Disease Progression , Female , Humans , Male , Middle Aged , Migraine Disorders/complications , Vertigo/complicationsABSTRACT
OBJECTIVE: To test the hypothesis that tinnitus begins with outer hair cell dysfunction by recording transient (TEOAE) and distortion product evoked (DPOAE) oto-acoustic emissions in patients with normal hearing with (study group, SG) and without tinnitus (control group, CG). STUDY DESIGN: Case control study. SUBJECTS AND METHODS: SG had 32 patients with pure tone thresholds below 25 dB in the 500 to 8000 Hz interval. CG had 37 age- and gender-matched patients with similar thresholds. All patients had normal tympanograms and stapedial reflexes. TEOAE were recorded with wide band click in continuous mode at 80-dB peak SPL. DPOAE were recorded with f1/f2 = 1.22 and intensities of 65 dB (f1) and 55 dB (f2) SPL. RESULTS: DPOAE were abnormal in 68.4% of SG and in 50% of CG (P = 0.036). TEOAE were abnormal in 70.2% of SG and in 16.10% of CG (P = 0.0001). CONCLUSION: SG had significantly higher prevalence of abnormal TEOAE and DPOAE than CG.
Subject(s)
Otoacoustic Emissions, Spontaneous/physiology , Tinnitus/physiopathology , Adult , Case-Control Studies , Female , Hair Cells, Auditory, Outer/physiology , Humans , Male , Middle AgedABSTRACT
A cirurgia do estribo exige um grau de habilidade e de treinamento altos para ser executada sem riscos desnecessários para o paciente. Já de algum tempo têm aparecido artigos na literatura americana expressando preocupaçäo com os resultados de estapedectomias feitas por médicos em treinamento, alguns questionando mesmo a prática de treinar todos os residentes nesta técnica. Talvez somente os mais aptos para a microcirurgia deveriam ser iniciados na cirurgia da janela oval. No Brasil poucos relatos deste tipo têm aparecido na literatura. Nós levantamos os casos operados por residentes com supervisäo do staff de 1979 a 1992 no Hospital Universitário de Brasília e os relatamos em detalhes nesta comunicaçäo. Nossos resultados säo comparados com os publicados na literatura americana nos últimos 11 anos
Subject(s)
Humans , Male , Female , Adolescent , Adult , Middle Aged , Internship and Residency , Stapes Surgery , Deafness/surgery , Microsurgery , Otosclerosis/surgeryABSTRACT
A cirurgia para cura das otites médias crônicas envolvendo ouvido médio e mastoide procuram em primeiro lugar erradicar a doença, e, em seguido lugar, preservar e, se possível, melhorar a audiçåo. Frequentemente as técnicas que preservam melhor a audiçåo (canal wall upe intact bridge mastoidectomies) såo de difícil execuçåo e diminuem a eficácia do procedimento de erradicaçåo da doença. Assim sendo é necessário continuar buscando técnicas que conciliem melhor os dois objetivos em queståo. Nessa comunicaçåo nós descrevemos uma modificaçåo da técnica conhecida como "intact bridge mastoidectomy" e apresentamos os resultados obtidos em nove pacientes operados na Clínica de Otorrinolaringologia do Hospital Universitário de Brasília segundo esta nova técnica em termos de sucesso na erradicaçåo da doença, resultados na melhora da audiçåo e incidência de complicaçÆes pós-operatórias
