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1.
HNO ; 37(10): 406-14, 1989 Oct.
Article in German | MEDLINE | ID: mdl-2808005

ABSTRACT

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.


Subject(s)
Electronystagmography/methods , Nystagmus, Pathologic/diagnosis , Vestibular Diseases/diagnosis , Vestibular Function Tests/methods , Adult , Aged , Aged, 80 and over , Caloric Tests/methods , Female , Humans , Male , Meniere Disease/diagnosis , Middle Aged , Nystagmus, Physiologic , Reflex, Vestibulo-Ocular , Signal Processing, Computer-Assisted
2.
Wien Klin Wochenschr ; 99(18): 638-41, 1987 Sep 25.
Article in German | MEDLINE | ID: mdl-3687023

ABSTRACT

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.


Subject(s)
Chromosome Aberrations/genetics , Chromosome Inversion , Chromosomes, Human, Pair 8 , Trisomy , Adult , Chromosome Disorders , Female , Humans , Intellectual Disability/genetics , Karyotyping , Phenotype
3.
Wien Med Wochenschr ; 136(18): 473-6, 1986 Sep 30.
Article in German | MEDLINE | ID: mdl-2432732

ABSTRACT

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.


Subject(s)
Cochlea/blood supply , Dextrans/therapeutic use , Hearing Loss, Sensorineural/therapy , Ischemia/therapy , Audiometry, Pure-Tone , Hearing Loss, Sudden/therapy , Humans , Infusions, Intravenous , Molecular Weight , Rheology , Vincamine/therapeutic use
5.
Wien Klin Wochenschr ; 95(12): 396-9, 1983 Jun 10.
Article in German | MEDLINE | ID: mdl-6613135

ABSTRACT

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.


Subject(s)
Otitis Media , Otitis Media/diagnosis , Anti-Bacterial Agents/administration & dosage , Anti-Inflammatory Agents/therapeutic use , Child , Exudates and Transudates/cytology , Hearing Loss/etiology , Humans , Otitis Media/complications , Otitis Media/drug therapy , Patient Compliance , Tympanic Membrane/pathology
6.
Wien Klin Wochenschr ; 93(1): 16-9, 1981 Jan 09.
Article in German | MEDLINE | ID: mdl-7222705

ABSTRACT

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.


Subject(s)
Chromosomes, Human, 4-5 , Intellectual Disability/genetics , Translocation, Genetic , Trisomy , Adult , Chromosome Mapping , Cri-du-Chat Syndrome/genetics , Female , Humans , Male , Pedigree , Phenotype
7.
Hum Genet ; 49(2): 179-83, 1979 Jun 19.
Article in English | MEDLINE | ID: mdl-468248

ABSTRACT

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.


Subject(s)
Abnormalities, Multiple/genetics , Chromosomes, Human, 4-5 , Trisomy , Child , Child, Preschool , Ear, External/abnormalities , Female , Humans , Karyotyping , Male , Microcephaly/genetics , Psychomotor Disorders/genetics , Retrognathia/genetics
8.
Hum Genet ; 41(1): 115-20, 1978 Feb 23.
Article in English | MEDLINE | ID: mdl-631857

ABSTRACT

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.


Subject(s)
Chromosome Deletion , Chromosomes, Human, 1-3 , Abnormalities, Multiple/genetics , Child, Preschool , Dwarfism/genetics , Humans , Intellectual Disability/genetics , Karyotyping , Male , Microcephaly/genetics , Phenotype
9.
Hum Genet ; 33(2): 155-60, 1976 Jul 27.
Article in English | MEDLINE | ID: mdl-939567

ABSTRACT

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.


Subject(s)
Chromosome Aberrations , Chromosomes, Human, 4-5 , Chromosomes, Human, 6-12 and X , Translocation, Genetic , Trisomy , Adolescent , Face , Female , Humans , Male , Pedigree , Phenotype
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