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.     

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.     

Digoxin-like factor in infants of diabetic mothers not receiving digoxin therapy

Serum digoxin-like factor was detected in infants of diabetic mothers who were insulin-dependent or diet controlled. No statistical difference was found between the serum digoxin-like factor levels of the infants of diabetic mothers and the controls.     

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.     

Transcultural understanding of a hereditary disorder. Mucopolysaccharidosis VI in a Vietnamese family

A case study of a family referred for clarification of cultural issues illustrates how a transcultural psychiatric service developed in the pediatric hospital setting can be used to advantage. A Vietnamese family with an inherited disorder. Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome, MPS VI), resisted genetic counseling and contraception. Three out of their six children were affected, one with a fatal outcome. The transcultural consultation offered an understanding of their behavior and facilitated subsequent management.     

The effect of social learning intervention on metabolic control of insulin-dependent diabetes mellitus in adolescents

This paper reports the results of an experimental study modeled after a study conducted by Kaplan et al. The hypothesis tested was: Adolescents who receive a social learning intervention (SLI) will show greater improvement in metabolic control of their diabetes than will adolescents who receive only traditional diabetes instruction. Thirty-four adolescents between the ages of 12 and 16 who attended a midwestern camp were randomly divided into two groups. Both groups attended a daily 1-hour teaching session about diabetes. Later each day, the experimental group received an SLI consisting of role modeling to help the subjects circumvent peer pressure. To determine metabolic control, HbA1 values were determined before and 3 1/2 months after the intervention. The control group showed no significant difference in HbA1 values, while the experimental group showed a decrease in metabolic control.     

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.     

Common nail disorders

The toenails and the rest of the human foot are constantly sandwiched in shoes, traumatized, and poorly supplied with blood that is necessary for normal morphology and function, resulting in more abnormal changes of the toenails (onychopathies). This article discusses briefly the following: (1) the conditions that are commonly seen in feet by podiatric practitioners; (2) clinical signs, symptoms, and etiology; and (3) differential diagnosis and care of the conditions.