Autosomal recessive nonsyndromal profound childhood deafness in a large pedigree. Audiometric features of the affected persons and the obligate carriers

Nonsyndromal autosomal recessive profound childhood deafness will affect about one in 4000 children in western Europe. A nonsyndromal autosomal recessive type of profound childhood deafness was thought to be the cause of deafness in at least eight and probably 12 children from a large family with various consanguineous matings and other family interrelations. Audiograms of all affected deaf children showed a profound childhood deafness with only a very slight variation. Audiometric examinations, such as pure-tone audiometry, high-frequency audiometry, stapedial reflexes, and Bekesy audiometry, of ten obligate or presumed carriers did not show any significant findings that would allow identification of carriers of this autosomal recessive gene. Families like this one seem to be very rare. Large clinically well-studied families like this one are indispensable for gene linkage studies of nonsyndromal autosomal recessive types of profound childhood deafness. Such studies should make it possible to trace the origin of these types of childhood deafness at an early age. In consequence, carrier detection should also become available.     

Serious respiratory consequences of detergent ingestions in children

After ingesting or inhaling laundry detergent powder, eight children required hospital admission. The predominant symptoms were stridor, drooling, and respiratory distress. All but one patient underwent endoscopy of the airways and the esophagus, five children were admitted to the intensive care unit, and four children required endotracheal intubation. Laundry detergent ingestions are generally considered to have minor consequences, and there exists a paucity of literature on the subject. Evidence of significant morbidity incurred because of ingestion or inhalation of sodium carbonate-containing laundry detergent powder is presented, together with a review of the existing literature.     

Congenital diaphragmatic defects that present late.

Twenty two patients (age range: 1 month to 11 years) were treated for congenital diaphragmatic defects (excluding hiatus hernia) in the six year period 1983-8. Presenting features were failure to thrive (n = 7), abdominal pain and vomiting (n = 4), chronic respiratory symptoms (n = 3), and inability to wean from ventilatory support (n = 3). The defect was an incidental finding in five patients. Operative repair was performed with no mortality or serious postoperative morbidity. Dramatic improvement occurred in 15 of the 17 symptomatic patients. Awareness of the differential diagnosis should avoid delay in diagnosis or inappropriate treatment. Surgical correction is strongly recommended in all cases.     

Free microvascular tissue transfer. Clinical significance in reconstructive surgery of the head and neck

Free microvascular anastomosed tissue transfer has improved the reconstruction of soft tissue defects dramatically. For reconstruction of facial and cervical soft tissue defects numerous free flaps are available to the head and neck surgeon, however, most of the reconstructive problems can be solved by using a limited number of reliable and versatile techniques. In microvascular tissue transfer, the scapular flap offers similar advantages as to reliability and versatility as the pectoralis major flap in pedicled tissue transfer. In contrast to the scapular flap the groin flap is more bulky, its skin is soft and may carry pubic hair on its medial aspect. After partial maxillectomy or in facial dysplasia facial contour may be restored satisfactory with a completely or partially de-epithelialized scapular flap. In total hypopharyngeal and cervicoesophageal defects the jejunum transplant provides an ideal tubular replacement. If after resection of an intraoral carcinoma with partial mandibulectomy an osteocutaneous transfer has to be achieved the mandibular defect may be reconstructed with bone from the iliac crest or from the radius while the intra- and extraoral tissue defect may be closed with the adjacent skin flaps. For the closure of large penetrating defects of the cheek the inferior epigastric abdominal wall flap in particular has proved a versatile and reliable flap. This flap offers both, a cutaneous and a peritoneal surface. Latter is used for the replacement of the intraoral lining.     

Do we need in-patient units for child and adolescent psychiatry? Data on administrative incidence from 1980-1984 from Vorarlberg/Austria

The question of the necessity of in-patient facilities of the area of (child and) adolescent neuropsychiatry is to be discussed further. The extremely optimistic views on this question of approximately 20 years ago cannot be maintained for the examined area and the examination time. In the LNKH Valduna/Vorarlberg, an establishment that was intended exclusively for adults until 1987, from 1980-1984 (evaluated in detail) and from 1984-1987 a further 60 minors were admitted. The exact evaluation shows that the conspicuousnesses of behaviour of a main group was so clear each time that it could not be treated elsewhere and certainly not in outpatient facilities. In the examined group the amount of patients with behaviour and socialization disorders outweighed by far the psychoses, also a high percentage of patients was multi morbid and/or had multiple handicaps. The resulting conclusion seems to us to be the necessity of setting-up a specific in-patients treatment unit for this group of patients with sufficient infrastructure.     

Acute infectious epiglottitis in children and adults: annual incidence and mortality

The incidence and mortality of acute epiglottitis were retrospectively analysed covering a 12-year period, 1975-1987. The diagnosis was made by the laryngoscopic findings in 95% of patients. Based on 902 hospitalized patients, a mean annual incidence of 4.9 cases per 100,000 children and adults was found. Although adult patients predominated (60%), the incidence was far higher in children, 13.8 per 100,000 compared with 3.9 per 100,000 in adults. Two peaks in incidence were identified, one for the youngest children, and the second for young adults (15-29 years). Over the years the incidence varied little in adults, but decreased significantly in children over the last 6 years studied. The data presented indicate acute epiglottitis to be a more frequent disorder than previously believed but with less risk of a fatal outcome. The mortality rate was below 1% in children and adults and the annual incidence of death from acute epiglottitis was estimated at 0.5 cases per million. The primary admission of these patients to ENT units seems to be the single factor having the most powerful impact on mortality.