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.     

Transplantability of human head and neck squamous cell carcinomas in athymic nude mice

Tumor material from 91 patients with squamous cell carcinoma of the head and neck was transplanted subcutaneously in athymic nude mice. In the first (man to mouse) passage, the calculated mean probability of tumor take in a single mouse was 11%. The probability of growth in the first passage was significantly better for moderately and poorly differentiated tumors than for well-differentiated tumors. Also, the implantation of lymph node material resulted in a significantly better tumor take rate than material taken from a primary tumor. Transplantability was not dependent on the following characteristics: localization, T or N stage of the tumor, or the sex of the patients. Once growth was established, all variables studied had no influence on the probability of growth in the subsequent mouse passages. A relationship between tumor growth in nude mice and patient prognosis could not be found. When transplanting head and neck squamous cell carcinoma in nude mice, it has to be recognized that some tumor characteristics will influence the success of tumor growth.     

Phonological disorders in children: changes in phonological process use during treatment

Unintelligible speech in childhood is often characterised by the use of unusual or deviant (i.e. non-developmental) phonological processes, e.g. initial consonant deletion. These processes are reported to appear at speech onset and to undergo little spontaneous change during the preschool years. The study reported here documents the changes that occurred in the phonological systems of seven phonologically disordered children during remediation that targeted unusual phonological processes. Qualitative changes in phonological process use were observed for all children. Six of the children made quantitative improvement in terms of the percentage consonants produced correctly in spontaneous speech. Individual differences in phonological learning strategy use are described.     

Dietary factors in the risk of bladder cancer

The relationship between selected dietary factors and the risk of bladder cancer was investigated in a case-control study conducted in northern Italy. The study included 163 cases and 181 controls who were hospitalized for acute, nonneoplastic or urinary tract diseases. The frequency of consumption of green vegetables and carrots was lower in the cases; thus, the estimated relative risks for the upper vs. the lower tertiles were 0.6 for green vegetables and 0.5 for carrots. Significant inverse trends in risk emerged with estimated carotenoid (as well as retinoid) intake. The apparent protection conveyed by vitamin A was stronger in current smokers. The risk of bladder cancer was not related to scores of fat and measures of alcohol consumption; the risk was elevated in coffee drinkers (although there was no tendency to rise with higher consumption), but it was reduced in tea drinkers. These findings were not explainable in terms of selection, information, or confounding bias. Thus, although available information is too uncertain for any precise definition of specific (micro)nutrients related to bladder cancer risk, the confirmation that several aspects of a less-affluent diet adversely affect the risk is still of interest in terms of a better understanding of bladder carcinogenesis.     

Tumoral calcinosis simulating osteomyelitis

A case of tumoral calcinosis simulating osteomyelitis and associated with bunion formation in a 20-year-old female is presented. The most striking findings in this patient were the soft tissue calcifications. There was no evidence of any of the known causes of heterotopic calcifications. This kind of simulation between tumoral calcinosis bunion formation and osteomyelitis has not been previously described.