Ehlers-Danlos syndrome type VI: clinical manifestations of collagen lysyl hydroxylase deficiency

We reviewed the clinical findings in 10 patients with lysyl hydroxylase deficiency (Ehlers-Danlos syndrome type VI) and report here the range of clinical severity in these patients. The distinctive feature common to all patients was muscle hypotonia with joint laxity in the newborn period, and moderate to severe kyphoscoliosis either was present or developed in almost all patients. Most patients also had some degree of skin abnormality observed in other types of Ehlers-Danlos syndrome: bruisability, abnormal scarring, and soft, distensible skin. These patients also are at risk for potentially catastrophic arterial rupture.     

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.     

Risk of infectious complications in well-appearing children with transient neutropenia

To determine whether well-appearing children found incidentally to be neutropenic are at risk for an infectious complication, 44 consecutive months of hematology laboratory records were reviewed. One hundred nineteen patients had medical record documentation regarding clinical course, serial white blood cell counts, and the absence of serious infections, chronic illnesses, or a family history known to be associated with neutropenia. The median duration of documented neutropenia was 13 days (range, 1 to 491 days). Infectious complications occurred in 4 of the 36 patients who had neutropenia for more than 30 days (2 with stomatitis, 1 with cellulitis, and 1 with pneumonia) but in none with shorter durations of neutropenia. There were no significant associations between the development of an infectious complication and either the initial absolute neutrophil count or the lowest documented absolute neutrophil count, nor was there a correlation between the initial absolute neutrophil count and the duration of neutropenia. These data indicate that infectious complications occur in otherwise well children with unexplained neutropenia that persists, but these infections are infrequent and usually are superficial.     

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.     

Methanol-induced monoamine changes in hypothalamus and striatum of albino rats

This paper suggests that like ethanol, methanol also produces certain changes in the steady state level of monoamines in hypothalamus and striatum of albino rats. Though, the toxic manifestations of methanol are attributed to the metabolic end product of methanol viz. formic acid by several workers, we report here that the methanol-induced brain monoamine changes, at least, could be attributed to the direct action of methanol rather than to its metabolic end products like formaldehyde or formate. Studies in the steady state level of rat brain monoamines have shown that after methanol administration (3 g/kg), there is severe depletion of dopamine level in striatum but a significant increase in the level of dopamine, serotonin and 5-hydroxy indole acetic acid in hypothalamus. At the same time, norepinephrine and epinephrine levels are reduced in hypothalamus as well as in striatum. These effects do not seem to be induced by metabolic acidosis. The changes in monoamine levels are very well correlated with the blood and brain level of methanol as evidenced by maintaining a higher methanol level either by simultaneous administration of ethanol or by blocking methanol metabolism by pretreatment with 4-methyl pyrazole and 3-amino-1,2,4-triazole. It is thus postulated that monoamine changes induced by methanol appear to be the direct effect of methanol per se on the monoaminergic neuronal membranes.