RESUMO
Vestibular tests were performed in more than 600 otoneuological patients. The data analysed included the otoneurological history, audiograms, observation of spontaneous nystagmus, caloric and swing tests, and recording by electronystagmography. The tracings were subjected to summation of the amplitudes of the slow-phase nystagmus and classification of the recording as peripheral (small amplitude, high frequency) or central (dysrhythmia with bouts of high-frequency nystagmus). The correlations between spontaneous nystagmus and directional preponderance in caloric and rotation tests are complex, and our results show that an isolated abnormality has little significance. The expected correlation between hearing loss and unilateral caloric paresis was confirmed. Other lesions, such as peripheral or central ENG tracings and reduced vestibular reaction, did not correlate with any other pathological finding. Directional preponderance and spontaneous nystagmus were significantly more frequent in patients with unilateral caloric paresis than in those with a symmetrical response. The incidence of a peripheral type of ENG tracing, hearing loss and unilateral paresis increased with the age of the patients. Reduced vestibular response, a central type of tracing and directional preponderance did not correlate with age. The well-known variability of the subjective threshold of vertiginous sensations was confirmed by the results in patients with no vertigo, and deserves more attention.
Assuntos
Eletronistagmografia/métodos , Nistagmo Patológico/diagnóstico , Doenças Vestibulares/diagnóstico , Testes de Função Vestibular/métodos , Adulto , Idoso , Idoso de 80 Anos ou mais , Testes Calóricos/métodos , Feminino , Humanos , Masculino , Doença de Meniere/diagnóstico , Pessoa de Meia-Idade , Nistagmo Fisiológico , Reflexo Vestíbulo-Ocular , Processamento de Sinais Assistido por ComputadorRESUMO
A girl with severe mental retardation and conspicuous phenotype features is described. The chromosomal aberration consists of a partial trisomy 8q of the region 8q22----qter. Minor deletion of the terminal part of the region 8p23 must be presumed, resulting in partial monosomy of this region. Inversion of chromosome 8 was found in the father and his mother.
Assuntos
Aberrações Cromossômicas/genética , Inversão Cromossômica , Cromossomos Humanos Par 8 , Trissomia , Adulto , Transtornos Cromossômicos , Feminino , Humanos , Deficiência Intelectual/genética , Cariotipagem , FenótipoRESUMO
The treatment of the defective hearing of the inner ear with infusions shows surprisingly good success both with the sudden and gradual loss of hearing. The combination of low molecular Dextrans with Vincamin has produced the best results. Neither failure nor noxiousness of this therapy of the sudden loss of hearing could be observed.
Assuntos
Cóclea/irrigação sanguínea , Dextranos/uso terapêutico , Perda Auditiva Neurossensorial/terapia , Isquemia/terapia , Audiometria de Tons Puros , Perda Auditiva Súbita/terapia , Humanos , Infusões Intravenosas , Peso Molecular , Reologia , Vincamina/uso terapêuticoAssuntos
Perda Auditiva Súbita , Trifosfato de Adenosina/administração & dosagem , Dióxido de Carbono/uso terapêutico , Dextranos/uso terapêutico , Perda Auditiva Súbita/tratamento farmacológico , Perda Auditiva Súbita/etiologia , Perda Auditiva Súbita/patologia , Humanos , Infusões Parenterais , Músculo Liso Vascular/patologia , Oxigenoterapia , Osso Petroso/patologia , Prognóstico , Espasmo/complicações , Fatores de TempoRESUMO
Tubotympanic catarrh (otitis media with effusion) is a long-known disease. Today it has become a "fashionable disease", but is extremely important as the most frequent cause of hearing loss in children. The key to the disease is functional disability of the auditory tube. Therapeutic pitfalls and a significant lack of compliance on the part of the patient have definitely led to an increase in otitis media with effusion. We are sure that better diagnostic facilities for the detection of hearing loss in children has made the "silent syndrome" more prevalent. Therapy must aim to cure tubal dysfunction as soon as possible to enable clearance of the middle ear secretion and ventilation of the tympanon, in order to avoid the feared complications of adhesive otitis and atypical cholesteatoma. Prophylaxis is better than cure.
Assuntos
Otite Média , Otite Média/diagnóstico , Antibacterianos/administração & dosagem , Anti-Inflamatórios/uso terapêutico , Criança , Exsudatos e Transudatos/citologia , Perda Auditiva/etiologia , Humanos , Otite Média/complicações , Otite Média/tratamento farmacológico , Cooperação do Paciente , Membrana Timpânica/patologiaRESUMO
A family with three retarded children is described. The phenotypical features of the eldest girl are uncharacteristic, whereas both other girls show the typical symptoms of the Cri-du-chat syndrome. Cytogenetic examination showed a balanced translocation t (3,5) in the father and partial trisomy 5 p and monosomy 5 p in the two surviving daughters.
Assuntos
Cromossomos Humanos 4-5 , Deficiência Intelectual/genética , Translocação Genética , Trissomia , Adulto , Mapeamento Cromossômico , Síndrome de Cri-du-Chat/genética , Feminino , Humanos , Masculino , Linhagem , FenótipoRESUMO
Two unrelated cases of 4q trisomy are described with trisomic segment 4q25 leads to 4qter. The most conspicuous symptoms are psychomotor retardation, microcephaly, malformed ears, retrognathia, finger and toe malformations and cryptorchism in a male. Both cases are compared with 19 previously reported ones.
Assuntos
Anormalidades Múltiplas/genética , Cromossomos Humanos 4-5 , Trissomia , Criança , Pré-Escolar , Orelha Externa/anormalidades , Feminino , Humanos , Cariotipagem , Masculino , Microcefalia/genética , Transtornos Psicomotores/genética , Retrognatismo/genéticaRESUMO
A 5-year-old male with multiple malformations (dwarfism, microcephalia with brachycephalic shape of skull, mongoloid lid axis, epicanthus, convergent strabismus, flat root of the nose, micrognathia, missing uvula, deformed low-set ears, hypoplastic genitals, and general hypotonia), severe mental retardation, and cerebral paroxysms caused by a partial monosomy (1)(q42 leads to qter) is described. This case is compared with other cases with a partial monosomy or ring-1 chromosomes.
Assuntos
Deleção Cromossômica , Cromossomos Humanos 1-3 , Anormalidades Múltiplas/genética , Pré-Escolar , Nanismo/genética , Humanos , Deficiência Intelectual/genética , Cariotipagem , Masculino , Microcefalia/genética , FenótipoRESUMO
Report of a family with 7 cases of balanced translocation t(4p-,7q+), resulting in partial trisomy in 2 children descending from parents being brother and sister. Description of the clinical cases, family history, and cytogenetic findings followed by a short discussion of phenotypical differences of the two probands.