[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.

["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.

[PFAPA Syndrome: Current Standard of Knowledge and Relevance for the ENT Specialist]. / Das PFAPA-Syndrom: Aktueller Wissensstand und Bedeutung für den HNO-Arzt.

BACKGROUND: The symptoms fever, aphthous stomatitis, pharyngitis and cervical lymph node enlargement are among the most frequent complaints that particularly make children and adolescents consult an ENT specialist. In cases where these symptoms occur periodically, a PFAPA syndrome may be present. PATIENTS AND METHODS: We report on an atypical process in a 22 year old woman in whom the PFAPA syndrome first occurred during early infancy with recurrences since adolescence. RESULTS: Since the age of eight months the patient suffered from periodically occurring fever and pharyngitis with cervical lymph node enlargement. Therefore, by age four a tonsillectomy was performed and the symptoms disappeared. At age 15 similar symptoms occurred again with fever thrusts over approximately four to five days with temperatures up to 39.8 degrees C associated with pharyngitis, weakness and cervical lymphadenitis. Those symptoms relapsed periodically every four weeks. Treatment regimens with different antibiotics, Dimepranol and Inosin did not show any effect. Hyper-IgD syndrome and cyclic neutropenia were excluded. There were no signs for a humoral or cellular immune defect or a juvenile idiopathic arthritis. CONCLUSIONS: It is often very difficult to make the right diagnosis in a child or a young adolescent presenting with periodically occurring fever. So far the PFAPA syndrome is relatively unknown. Nevertheless, we think that it should be considered in the differential diagnosis by the ENT specialist patients with periodic fever, aphthous stomatitis, pharyngitis and cervical lymphadenopathy.

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.

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.

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.

[Psychological stress, knowledge and treatment expectation of parents with a child managed by cochlear implant]. / Psychische Belastung, Informiertheit und Behandlungserwartung von Eltern mit einem Cochlear Implant versorgten Kind.

UNLABELLED: ESTABLISHED KNOWLEDGE: It is known that parents of hard-of-hearing children suffer from an increase in psychosocial stress. SCIENTIFIC QUESTION: How does the psychosocial situation of parents with children who have cochlear implants change during rehabilitation? AIM OF STUDY: It was the aim of this study to demonstrate how parents evaluate retrospectively their own psychological well-being during the process of rehabilitation. METHODS AND RESULTS: We interviewed 87 parents by questionnaires which were mailed to them. Fifty-seven mothers and 46 fathers responded (59% return rate). Parents reported a significant increase in stress, as perceived by themselves, after the time of diagnosis. Of the parents, 25% continued to suffer from psychic stress during rehabilitation as could be demonstrated by the SCL-90-R questionnaire criteria. The expectations by parents were realistic prior to implantation but thereafter increased significantly with time. CONCLUSIONS: The psychological state of parents during the critical phase, after a diagnosis of deafness has been made for their child, has to be considered. Even after an initial phase of shock, parents seemed to be stressed to an extent that required therapeutic intervention.

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.

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.

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.

[Effect of contralateral noise exposure on otoacoustic distortion product emissions in man]. / Der Einfluss kontralateraler Beschallung auf otoakustische Distorsionsprodukt-Emissionen des Menschen.

The influence of contralateral white noise with levels of 50 and 60 dBnHL on the amplitude of distortion-product otoacoustic emissions (DPOAE) was measured. Thirty ears of normally hearing adults (17 women, 13 men, mean age 26.5 +/- 5.3 years) were examined. Two representative DPOAE frequencies 2f1-f2 = 1342 Hz and 6341 Hz were compared. The lower DPOAE frequency was placed in the frequency region where middle-ear pressure has a strong influence on DPOAE amplitudes, the higher DPOAE frequency respectively in the region where lesser influence is exerted by middle-ear pressure. During the application of contralateral white noise a statistically significant total of 85% of DPOAE amplitudes was reduced, although there was some variation in the individual behaviour of DPOAE amplitudes. In general the higher DPOAE frequency (6341 Hz) was reduced distinctly less than the lower DPOAE frequency (1342 Hz). The reaction of DPOAE amplitude depended closely on the time course of the contralateral stimulus and amplitude reductions were present over 10 minutes without adaptation or fatigue. It is not possible to differentiate between middle-ear or inner-ear mediate effects but the middle ear is at least involved. Based on the presence of those DPOAE amplitude reductions over ten minutes without adaptation or fatigue and the fact that lower frequencies are influenced much more than higher frequencies a synergistic effect--middle-ear and efferent mediated--is suggested.

Pattern of bile acid regurgitation and metabolism during perfusion of the bile duct obstructed rat liver.

Bile acid processing in the long-term, bile duct obstructed rat liver was studied ex vivo. Twenty four and 72 h, respectively, after bile duct obstruction the isolated liver was perfused with taurodeoxycholate (16 nmol/min per g liver) the bile duct still being closed. Uptake, metabolism and regurgitation profile were traced by bolus injection of tritium-labeled bile acid; in addition, concurrent histological changes were examined by light- and electron microscopy. Ligation caused dilatation of the intrahepatic ductular branches and increased the serum bile acid concentration to 740 +/- 75 microM (controls: 16 +/- 2.12), reaching its maximum within 24 h. At 16 nmol/min per g liver uptake rate was > 96% in controls and in bile duct obstructed rats. Maximal uptake rates (assessed separately) differed between controls and bile duct obstructed rats (700 nmol/min per g liver vs. 460). Controls excreted more than 80% of labeled bile acid in bile within 10 min after bolus injection. Biliary recovery of label was virtually completed after 30 min. In bile duct obstructed rats excretion of label back to the perfusate effluent (regurgitation) started quantitatively 5 min after bolus application and peaked between 10 and 40 min; after 80 min, effluent recovery was incomplete (about 60% of bolus injected). Biliary bile acids of controls consisted of about 20% taurodeoxycholate-metabolites; bile acids in the perfusate effluent of bile duct obstructed rats of about 55%. The major metabolite in all animal groups was taurocholate; minor metabolites were tauroursocholate, tauro-3 alpha,7 = 0,12 alpha-cholanoic acid and 3-sulfo-taurodeoxycholate. Histologically, inflammation and periportal edema were present after 1 day of bile duct obstruction. After 3 days, marked proliferation of bile ductules was the dominant histological feature. It is concluded that during initial bile duct obstruction, bile acid processing is not altered, although ultrastructural alterations occur early.

[Pathogenetic and therapeutic aspects of contact granuloma]. / Pathogenetische und therapeutische Aspekte des Kontaktgranuloms.

Contact ulcer and granuloma is an etiologically multifactorial chronic inflammatory disease of the larynx. Besides mechanical laryngeal factors, gastrointestinal and psychosomatic aspects of pathogenesis have been suggested. 51 patients suffering from contact ulcer or granuloma underwent laryngologic and phoniatric examination. In addition, a questionnaire asking for symptoms and habits (smoking, alcohol) was completed by each patient. Subsequent to completing the treatment course, the patients were re-examined. Each patient was examined several times and the success of 6 therapeutic strategies was compared. 49 patients were male and almost 70% complained of private or professional stress. Since only 8% were smokers, smoking habits do not play a pathogenetic role. Drinking habits are also not a significant factor. A striking therapeutic result observed by us was complete remission in more than 80% of patients who had received an acid-inhibiting agent as monotherapy. The remission was higher in this group than in patients treated by logopedic therapy. In case of carcinophobia or if cancer could not be excluded by laryngoscopy and stroboscopy, granulomas were removed surgically. More than 90% of these patients suffered from recurrence unless voice therapy was directly performed. On the other hand, antacid therapy yielded excellent results in patients suffering from recurrent granuloma or ulcer after surgery. We conclude that peptic diseases of stomach and oesophagus play an important role in the pathogenesis of contact ulcer and granuloma and recommend routine interviews and internal examination of patients. Antacid therapy should be firmly installed in the therapeutic strategy against contact ulcer.

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.

[Cerebral seizure in naftidrofuryl infusion]. / Zerebraler Krampfanfall während Naftidrofuryl-Infusion.

The case of a 7-year-old boy who suffered a convulsion during parenteral infusion of naftidrofuryl is reported. The effectiveness of adding naftidrofuryl to infusions designed to increase cochlear blood flow in cases of sudden hearing loss has been keenly debated in the otologic literature. Several hazards are associated with this drug, especially when the infusion is performed too fast. We recommend an individual decision for each patient suffering from cochleo-vestibular disorder based on the neurological and cardiological risk factors and the therapeutic possibilities.

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.

Portacaval shunt as an experimental model of impaired hepatic release of vitamin A in liver disease.

Vitamin A concentrations in serum and liver were studied in rats with a portacaval shunt for 48 days after shunt surgery. In addition, serum and tissue concentrations of zinc were analyzed. Following portacaval shunting serum vitamin A concentration decreased to 25% of the level in sham-operated controls, whereas serum zinc concentration decreased to 80%. The mean urinary excretion rate of zinc increased in shunted rats [18.7 +/- 2.1 micrograms/day (0.28 +/- 0.03 mumol/day)] compared with controls [13.8 +/- 1.7 micrograms/day (0.21 +/- 0.03 mumol/day)] (P less than 0.01). The concentration of retinol and total retinoids in liver tissue increased 2-3-fold in rats with a portacaval shunt, and the ratio of retinol to retinoids was slightly increased. The differences were reduced when the total organ content was calculated, because of the reduced liver weight in the shunted rats. The concentration of zinc in liver tissue decreased in rats with portacaval shunts [30.8 +/- 4.9 micrograms/g wet wt (0.47 +/- 0.07 mumol/g) vs. 35.6 +/- 3.7 micrograms/g wet wt (0.54 +/- 0.06 mumol/g) in controls; P less than 0.01]. The concentration of zinc was inversely correlated with retinol (r = -0.52, P less than 0.05) and total retinoid levels (r = -0.70, P less than 0.05) in rats with portacaval shunts but not in controls. The data are consistent with the hypothesis of an impaired release of vitamin A from the liver in rats with portacaval shunts, an impairment that could be due to liver zinc deficiency.