[Progressive hearing impairment with deletion in GJB2 gene despite normal newborn hearing screening]. / Progrediente Schwerhörigkeit bei Deletion im GJB2 Gen trotz unauffälligem Neugeborenen-Hörscreening.

OBJECTIVE: Hearing impairment is the most common sensorineural disease in humans. About 1-3 per 1 000 neonates suffers at birth or in the first years from high-grade to severe hearing impairment. About half of the cases are due to genetic alterations. Most commonly, the GJB2 gene (connexin-26) is concerned with the mutation c.35delG. MATERIAL AND METHODES: All patients showed a severe to profound hearing impairment to the course. DNA isolation, amplification and sequencing was performed using standard techniques. RESULTS: In the studied patient population we have 142 pa-tients with a homozygous deletion mutation in GJB2 gene (c.35delG) and 29 patients who are heterozygous for this mutation on one allele and heterozygous for another loss-of-function mutation in GJB2 gene. Of these 171 patients were 16 (9.3%) on an inconspicuous newborn hearing screening using Otoacoustic Emissions (OAE). Total was observed a progression of hearing impairment in 31 of these patients (18.1%). CONCLUSIONS: This fact suggests that homozygous deletion mutation c.35delG does not always contribute to an congenital hearing impairment, but to a progressive hearing loss that might develop over the first months and years of life. Additionally, we have to re-evaluate the value of OAE for newborn hearing screening, keeping in mind that one positive result is no warranty for a normal development of hearing function, but a result that should be checked in the course. We recommend annual hearing tests to the paediatrician and with a known familial hearing loss and other risk factors pedaudiological controls.

Bioavailability of zinc from zinc-histidine complexes. I. Comparison with zinc sulfate in healthy men.

Zinc supplementation is beneficial in some clinical conditions. Histidine has been shown to improve zinc absorption in animals. To test its influence on zinc absorption in humans, we studied the bioavailability of zinc from zinc-histidine complexes as compared to zinc sulfate in 10 healthy volunteers. Ingestion of zinc complexed with histidine at a ratio of 1:2 or 1:12 increased serum-zinc concentration 25% more than ingestion of zinc sulfate. Calculated uptake was 30-40% increased with zinc histidine over zinc sulfate. Urinary excretion was not different with any preparation. Application of 15 mg zinc as zinc histidine 1:2 gave an identical serum-zinc response as 45 mg zinc taken as zinc sulfate. Zinc histidine complexes are better absorbed than zinc sulfate in humans.

Bioavailability of zinc from zinc-histidine complexes. II. Studies on patients with liver cirrhosis and the influence of the time of application.

Supplementation may benefit patients with liver cirrhosis. Zinc uptake from zinc-histidine complex 1:2 was assessed in eight patients with liver cirrhosis. Influence of the time of application was also studied. Compared with healthy controls, patients showed a 40% lower uptake of zinc after 20 mg zinc from zinc histidine. Bioavailability was identical when zinc was taken 6 h or 1 h before a meal but an order of magnitude greater than with or 1 h after a meal. No significant increase of serum zinc was found when zinc was given with a meal or 1 h after. Lower doses of zinc-histidine complexes than of zinc sulfate may be used to supplement patients with liver cirrhosis. Time of application is of great importance if this substitution is to be successful.

Ear click in palatal tremor: its origin and treatment with botulinum toxin.

We report the successful treatment of a rhythmic, continuing ear click in a patient with palatal tremor with local injections of botulinum toxin into the tensor veli palatini muscle. We could demonstrate that the ear click occurred during contraction of the tensor veli palatini, which opens the eustachian tube. Therefore, we believe that the clicking noise is due to the sudden breakdown of the surface tension within the eustachian tube. Our observations suggest that the ear click is due to rhythmic discharges of the trigeminal nucleus rather than the ambiguous nucleus.

Calcium-binding proteins in the spiral ganglion of the monkey, Callithrix jacchus.

Calcium-binding proteins can act as intermediaries between changing levels of free intracellular calcium ions and the physiological response of neurons. Some of these proteins, among them calbindin (CB), calretinin (CR) and parvalbumin (PV), can act as calcium buffers. A survey of previous studies in rodents and human fetuses leads to the impression that many spiral ganglion cells co-express CB, CR, and PV. The findings of the present study suggest that, in the adult marmoset, the expression of CB is restricted to a small number of cells, most likely type II ganglion cells, and that at least some of the numerous type I ganglion cells co-express CR and PV. In the neonate marmoset, large numbers of putative type I ganglion cells from the apical cochlear turn transiently expressed a light and granular labeling for CB-like immunoreactivity, in addition to the cells we believe to be type II ganglion cells exhibiting a strong and solid CB-like staining. The spiral ganglion cells in all developmental stages co-expressed the mitochondrial enzyme cytochrome oxidase. Furthermore, a small population of CB-LI axons of unknown origin was found to terminate near the CB-immunoreactive ganglion cells.

Ultrastructural changes in the organ of Corti and in the ganglion spiral cochleae after vitamin A deficiency.

Guinea pigs were fed a vitamin A free diet and the cochleae of these animals were studied with the light and electron microscope. No changes could be found after ten weeks of vitamin A deficiency, but after 19 weeks the experimental animals showed a slight hypertrophy of the otic capsule, an accumulation of lysosomes in the sensory cells and a disruption and disintegration of the Hensen body. In the ganglion spiral cochleae ganglion cells appeared, filled with different myelin figures or honeycomb-like inclusions. Furthermore, the myelin sheath was split and sometimes filled with circular lamellar complexes and glycogen. These morphological findings together with the evidence of high concentrations of vitamin A in the organ of Corti support the hypothesis that vitamin A may be important for the function of the n. acusticus.

The influence of portocaval shunting on inner ear structures.

In rats with a portocaval shunt the cells of the inner ear were examined in an ultrastructural study. In 15 rats a porto-caval shunt (PCS) was constructed. Control rats underwent identical procedures but no anastomosis was produced (SOP). The control rats were pair-feeded. PCS rats developed an increased urinary zinc excretion associated with weight loss, alopecia, lethargy and atrophy of the testes. The serum zinc concentration in PCS rats was significantly reduced. In the inner ear we found ultrastructurally an increasing number of lysosomes and a severe damage of the myelin sheath of the granular ganglion cells. The myelin sheath was split and filled with great myelin figures. In the outer hair cells resulted in an increasing number of lysosomes. In the stria vascularis and in Reissner's membrane a vacuolization of the tissue appeared. The results of this study show that rats with a porto-caval anastomosis serve as a pathophysiological model of zinc impoverishment like porto-caval shunting in patients with liver cirrhosis.

Cheilitis granulomatosa Miescher: treatment with clofazimine and review of the literature.

Cheilitis granulomatosa Miescher is a rare condition of unknown cause characterized by intermittent lip swelling that gradually persists and causes cosmetic deformity. We report the case of a young woman with cheilitis granulomatosa as a monosymptomatic manifestation of Melkersson-Rosenthal syndrome successfully treated by the antileprosy agent clofazimine, and propose clofazimine as an alternative treatment in cases refractory to corticosteroids. The differential diagnosis and current methods of treatment are summarized, and the literature is reviewed and discussed.

Laryngeal sarcoidosis: treatment with the antileprosy drug clofazimine.

Sarcoidosis is a chronic systemic granulomatous disease that occasionally affects the larynx. When the larynx is affected, the symptoms are frequently mild, but severe airway obstruction can occur. Although systemic corticosteroids are helpful, patients may become refractory to further drug administration. The current methods of treatment are here summarized, and the patient literature is reviewed. We also report a case of a young patient suffering from laryngeal sarcoidosis successfully treated by the antileprosy agent clofazimine and propose it as an alternative treatment of laryngeal sarcoidosis in patients refractory to corticosteroids.

The influence of portosystemic shunting on zinc and vitamin A metabolism in liver cirrhosis.

To elucidate the possible role of portosystemic shunting on zinc and vitamin A deficiency which has been described in patients with cirrhosis of the liver, a study on 37 hospitalized patients with liver cirrhosis was performed. Patients with surgical portosystemic shunt were found to have a significantly lower levels of zinc, vitamin A and retinol-binding protein (RBP) than controls and patients with cirrhosis without shunt. Patients with portal hypertension--considered to have spontaneous shunting--also has lower levels than those without this symptom. A significant correlation between zinc and vitamin A and RBP levels, respectively, was found. Also an increased renal zinc output was demonstrated. An influence of portosystemic shunting on zinc deficiency and subsequent vitamin A deficiency by decreased RBP release is concluded. The importance of these metabolic disorders for clinical symptoms is discussed.

Preconditions of language development in deaf children.

The harmful effects of childhood hearing impairment are given little thought by many people because hearing loss is largely an invisible handicap. An infant with a hearing impairment is generally healthy-looking and develops relatively normally during the first year of life. Hearing impairment in infants interferes with the normal development of spoken language. We are biologically programmed to develop certain skills in response to certain inputs. Language learning is one such skill which must be gained very early in life. Hearing is the most important basis for normal language acquisition and language is the keystone of modern society. Hearing loss must be identified as early as possible in the first years of life, especially a child with profound or severe hearing loss must be identified in the first year of life. If not, the child has missed an irreversible sensitive phase for learning of speech and language.

The need for psychosocial support in parents with cochlear implanted children.

OBJECTIVE: The aim of the study was to assess the need of parents with Cochlear implanted children for psychosocial support, based on psychic symptoms reported by these parents and their motivation to make use of psychosocial interventions. METHODS: Fifty seven mothers and 46 fathers of 57 Cochlear implanted children were evaluated separately, employing validated questionnaires (Symptom Checklist-90-R and Questionnaire on Psychosocial Support). RESULTS: 26% of the mothers and 25% of the fathers showed severe psychic symptoms as reflected in the Symptom Checklist-90-R. Fifty nine percent of the mothers and 60% of the fathers were highly motivated to participate in psychosocial interventions--especially in the form of further information on their children's ailment and in parents' groups. CONCLUSIONS: The data presented suggest that there is a need for psychosocial support in 18% of the parents; 8% of the parents show high psychic stress, but low motivation. The rest of the parents are not in need of support; nevertheless, 42% of the parents are highly motivated in favor of psychosocial interventions.

Dependence of distortion product emission amplitude on primary-tone stimulus levels during middle-ear pressure changes.

The measurement of distortion product otoacoustic emissions (DPOAEs) is dependent upon their transmission through the middle ear. The purpose of this study was to measure the combined effects of primary-tone level variation and of middle-ear pressure alterations on DPOAE amplitudes. Twenty ears of normally hearing adults were examined. Four DPOAEs were measured at the frequency 2f1-f2 (614 Hz, 1342 Hz, 2921 Hz, 6341 Hz), with the associated geometric mean (GM) of the primary tones at 1, 2, 4, and 8 kHz. Ambient air pressure was varied in a pressure chamber between 0 kPa and 6 kPa in 2-kPa steps. At each pressure level, L1 or L2 was varied in 5-dB steps between 40 and 60 dB HL with a corresponding fixed level of either L1 or L2 of 40 dB HL. The DPOAE amplitudes showed frequency-dependent changes. The largest mean amplitude reduction with pressure variations could be observed for the DPOAE at 614 Hz, whereas the DPOAEs at 6341 Hz remained practically unaffected. During variation of primary-tone levels, the maximum DPOAE amplitude generally occurred, independent of middle-ear pressure, when L1 was 5 to 15 dB greater L2. The results have implications for clinical measurements in that DPOAEs may be detected in the high-frequency range even under pathologically altered middle-ear pressure, and the optimum difference L1-L2 that produces maximum DPOAE amplitude is relatively unaffected by middle-ear pressure.

Virus particles in the cochlear spiral ganglion of guinea pigs.

All examined spiral ganglions of several guinea pig populations from different breeds showed intracytoplasmic viruses in some granular spiral ganglion cells. According to their localization and morphology we classify these viruses with the oncorna group. This is not in agreement with the classification of other authors. Apparently there is a world-wide latent viral infection in guinea pigs. Beside the virus particles we found an accumulation of lysosomes which indicate a local increased lysosomal activity of the infected ganglion cells. Further influences on the infected cells can neither be demonstrated nor denied.

Working conditions on stage: climatic considerations.

Singers and actors frequently complain about dusty and dry theater environments, which they believe induce respiratory tract indispositions and decrements in vocal performance. In the literature to date, extremely few quantitative data exist about actual climatic conditions on stage. A previous study by our group in an unhumidified theater found that it had too high temperatures, too dry and too dusty air, based on German occupational guidelines for the generic workplace. In the present study, humidification units were installed in the same theater, and the environmental measures were repeated. The primary findings indicated that, following the activation of the humidification units, temperatures, humidities and fine dust concentrations were improved and generally within acceptable ranges for the generic workplace, although not always optimal. Where unacceptable performance environments exist, special care should be taken to counsel performers with regard to possible prophylactic measures such as individual steam inhalation and fluid intake.

["Your child is hard of hearing" - a longitudinal study of parental distress]. / "Ihr Kind ist schwerhörig" - Eine Verlaufsuntersuchung zum elterlichen Befinden.

BACKGROUND: In models, hearing impairment in children is linked to parental distress. Empiric data about coping with this stress is small, however, as there are virtually only cross section studies which we can refer to. METHODS: 124 mothers and fathers of 61 children with a hearing impairment, who had their first hearing aid fitted respectively, had been presented to the pre-examination for a Cochlear Implantation (CI). Over a period of two years five respectively six measurements of their psycho-social distress were taken. In addition, the speech status of the children was evaluated. RESULTS: Shortly after the diagnosis and before implantation parental quality of life is significantly reduced. Enduring parental distress could not be established. However, particularly when the CI-indication is unclear parents were found to be negatively affected in their well-being. Social support and positive self-awareness were found to moderate parental distress. CONCLUSIONS: The significant reduction of parental quality of life at the onset of the treatment would indicates the need of special psychological support of the parents in this phase. The stabilisation of the parents' well-being over the course of the treatment signifies that a "normal every day life" can be attained for affected families despite the impairment.

The influence of a chronic vitamin A deficiency on the acoustic sensory cells and the ganglion spirale cochleae of the rat. An electron microscope study.

Microscope studies of the inner ear in rats with chronic vitamin A deficiency have rendered contradicting results. In our electron microscope study of the sensory cells of the inner ear in young rats with vitamin A deficiency we found that the cuticle is missing in outer hair cells. In the inner hair cells the cuticle is subtotally lacking. Furthermore, we found changes in the reticular system of the intermediate zone and massive degenerative changes in the afferent nerve system including the ganglion cells of the ganglion spirale cochleae. These morphological changes together with the recent findings of high concentrations of vitamin A in Corti's organ support the hypothesis that the acoustic sensory receptors contain of functionally depend upon vitamin A.

[Effect of a 6-week vitamin A-deficient diet on the sensory cells of the inner ear. Light and electron microscopic studies]. / Der Einfluss einer 6wöchigen Vitamin-A-Mangel-Diät auf die Sinneszellen des Innenohres.) Eine licht- und elektronenmikroskopische Studie.

Histologic studies of the inner ear in rats with chronic vitamin A deficiency have produced contradicting results. In our own electronmicroscope investigations of the inner ear of young rats after a six week vitamin A deficit diet we found a lacking of the cuticle in the outer hair cells and a subtotally lacking of the cuticle in the inner hair cells. Furthermore, we found changes in the reticular system of the intermediate zone. These morphologic changes together with the recent findings of high concentrations of vitamin A in the corti organ support the hypothesis that the acoustic sensory receptors contain or functionally depend upon vitamin A.