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.     

Results of Salmonella typhi culture in patients with suspected typhoid fever, treated in the Department of Child Health Medical School, Padjadjaran University, Hasan Sadikin General Hospital Bandung

From October to December 1984, examination has been carried out on Salmonella-typhi cultures from blood, bone marrow, faeces and urine of 43 patients suffering from suspected typhoid fever treated in the Department of Child Health, Medical School/Hasan Sadikin General Hospital, Bandung. It was apparent that among these 43 patients, 51.2% were males and 48.8% females. The greater number of them were more than 5 years old (64.4%). The results of Salmonella-typhi cultures were obtained from 65% of the patients, consisting of 65% positive cultures from bone-marrow and 40% positive cultures from blood that showed a statistically significant difference (p less than 0.05). Likewise, the time for matter-sampling for the examinations was based on the culture results, both on blood-culture and that of bone-marrow, statistically a significant was found (p less than 0.05), whereas the results of cultures based on previous vaccination history and the administration of chloramphenicol prior to treatment did not differ significantly. It was obviously clear that the results of bone-marrow culture were more successful compared to those from blood culture, so that it should necessarily be emphasized, as to these examinations on culture from each patient with suspected typhoid fever, especially those patients hospitalized during the third week of their illness.     

Neonatal vocal cord paralysis following extracorporeal membrane oxygenation

Five cases of unilateral vocal cord paralysis/paresis were diagnosed following extracorporeal membrane oxygenation for newborn respiratory failure. All were right sided and transient in nature. None of the five patients had other findings commonly associated with vocal cord palsy. The extracorporeal membrane oxygenation procedure requires surgical dissection in the carotid sheath on the right side of the neck, an area immediately adjacent to both the vagus and recurrent laryngeal nerve. It is speculated that vocal cord paralysis in these infants was acquired as a result of the extracorporeal membrane oxygenation cannulation. Although the vocal cord paralysis resolved in all cases, two patients had difficult courses after extracorporeal membrane oxygenation. Therefore, laryngoscopic examination should be considered for patients after extracorporeal membrane oxygenation.     

Usher syndrome: clinical findings and gene localization studies

The issue of genetic heterogeneity is a critical problem in the localization of the gene(s) for Usher syndrome. Based on the data obtained on families studied to date, the differences between type I and type II Usher syndrome appear quite distinct with regard to auditory and vestibular function. Although the majority of families can be confidently diagnosed as typical type I or type II, clinical investigations revealed four families with findings that did not fit into either of the two more common subtypes. These findings emphasize the critical importance of an in-depth clinical analysis concomitant with the linkage investigation to assure accurate subtyping of Usher syndrome. Based on an analysis of only those families with definite type I or type II Usher syndrome, approximately 17% of the genome can be excluded as a potential site of the gene for type I, and 14% can be excluded as the site for the type II gene. This study will continue until the Usher gene(s) is successfully localized.     

Effects of polymyxin B on selected features of equine carbohydrate overload

Gram negative endotoxins play a contributory role in the syndrome which results from over consumption of carbohydrates by horses and ponies. Since the antibiotic polymyxin B exerts a direct anti-endotoxin effect by chemically modifying the active lipid A moiety of endotoxin, it might be expected to protect horses after carbohydrate overload and provide a new therapeutic and experimental tool for this condition. The present study was undertaken to evaluate the effect of polymyxin B on hemostatic, hemodynamic, acid-base, and clinical aspects of the syndrome resulting from carbohydrate overload. Experimentally-induced carbohydrate overload resulted in lactic acidosis, hypercoagulability, hypovolemic shock and lameness. Although there was a slight delay in the onset of clinical signs resulting from experimental carbohydrate overload in treated animals, polymyxin B administered iv at 2.5 mg/kg every 6 hr failed to significantly ameliorate the coagulopathy, acidosis, lameness and shock induced by alimentary carbohydrate overload.     

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.     

Decreased caloric intake in normal-weight patients with bulimia: comparison with female volunteers

Patients with bulimia (binge-purge syndrome) frequently complain that they consume a very restrictive diet to avoid gaining weight. To investigate this claim, 23 hospitalized bulimic patients were assessed daily for body weight, caloric intake, macronutrient diet content, activity measures, and body composition estimates during weight-stable periods. Bulimic patients ate fewer kilocalories per kilogram body weight (22.1 +/- 4.6 kcal/kg) than did age-matched normal women (29.7 +/- 6.5 kcal/kg) but had similar activity levels and body composition. Clinical variables, such as history of laxative abuse, anorexia, or obesity, and physiological characteristics, such as body weight, activity level, or dietary content, could not account for this difference in caloric consumption. Bulimic patients tended to eat a diet lower in fat and higher in protein than did control subjects. These results agree with observations of increased efficiency of caloric utilization in obese patients and support patient complaints of a tendency to gain weight easily.     

Thoracic disc herniation in acromegaly

Herniation of a thoracic disc in an acromegalic giant is reported. Degenerative changes in the spine in association with dorsal kyphosis, and the additional strain, resulted in the disc prolapse.     

Interaction of niacin and zinc metabolism in patients with alcoholic pellagra

The effect of zinc supplementation on the metabolism of tryptophan conversion to niacin was studied in 14 alcoholic patients with pellagra and in 7 male control subjects aged 21-45 y. The pellagrins received chemically defined diets based on crystalline amino acids through an enteral tube for 7 d. Patients were divided into two groups (A and B), both receiving a diet from which tryptophan, Zn, and niacin were excluded. Patients in group B, however, received 220 mg Zn sulfate orally. Upon admission the pellagra patients had low plasma Zn levels and low urinary excretion values of N'methylnicotinamide (N'MN) and N'methyl-2-pyridone-5-carboxamide (2-PYR) in relation to the control subjects (p less than 0.01). During the experimental period there was an increase in plasma Zn levels (p less than 0.005) and in urinary N'MN (p less than 0.05) and 2-PYR (p less than 0.05) excretion in the patients receiving Zn supplementation (group B). These results suggest that Zn interacts with niacin metabolism in alcoholic patients with pellagra through a probable mediation by vitamin B-6.