Application of fluorescence in situ hybridization techniques in clinical genetics: use of two alphoid repeat probes detecting the centromeres of chromosomes 13 and 21 or chromosomes 14 and 22, respectively

Two cloned DNA fragments, one derived from an alpha satellite subfamily common to chromosomes 13 and 21, and the other derived from a similar subfamily common to chromosomes 14 and 22, have been used as biotinylated probes in in situ hybridization studies. Under high stringency conditions, chromosome specific centromeric labelling can be obtained. The applications of this technique in clinical situations are illustrated on metaphases from a fetus with trisomy 21, a fetus with trisomy 13, and a child with clinical features of cat-eye syndrome.     

Recurrent staphylococcal furunculosis in families

Recurrent familial staphylococcal furunculosis causes severe physical and especially socio-psychological problems to the families involved. In the present study 6 families with 28 persons were not treated with antibiotics but with a combination of chlorhexidine bathing, nasal 1% chlorhexidine gel and improved cleaning and hygiene in the surroundings. The infecting Staphylococcus aureus strain was eradicated from the surroundings and the skin in all 6 families, but several of the family members still retained the strain in the nose. All family members were, however, cured and remained without infections during an observation period of 2 years.     

Describing the health-related quality of life impact of HIV infection: Findings from a study using the HIV Overview of Problems—Evaluation System (HOPES)

This study aimed to describe the results of findings from data collected with an HIV-specific health-related quality of life tool, and to examine the relationship between clinical and biological factors and health-related quality of life (HRQL). Data were collected as a cross-sectional, patient-completed assessment of health-related quality of life. Laboratory data were abstracted from the medical chart. Patients (n=318) with HIV infection including asymptomatic (37%), ARC (20%), AIDS (25%), and AIDS with cancer (18%) were receiving health services at one of the medical centres serving HIV-infected patients in the Los Angeles community, including UCLA, community physicians, Veterans Affairs Medical Centers, and a county hospital. Additional data were contributed by the Johns Hopkins University Medical Center CMV Retinitis Clinic. Symptomatic patients and patients with the lowest CD4 counts reported poorer HRQL than asymptomatic patients and patients with higher CD4 counts. However, medical and demographic variables explained only 35% of the variability of HRQL ratings in this sample of HIV-infected patients. While clinical status and Karnofsky performance status may be used to estimate the impact of HIV infection on HRQL, they are not a substitute for independent assessment of HRQL by the patient.This research was funded in part by the UCLA AIDS Clinical Research Center and CARES Consultants. To obtain more information about the HOPES, please contact the second author at CARES Consultants, 2210 Wilshire Blvd, Suite 359, Santa Monica CA 90403     

Surgery in biliary atresia--futile or futuristic?

Kasai's portoenterostomy is, so far, the only option for patients with biliary atresia (BA) to survive with their own liver. The long-term results are closely related to the timing of the procedure and to the experience of the center. However, optimal conditions cannot guarantee stable liver function. Unfortunately, the majority of patients with BA eventually need liver transplantation, making them the largest group of pediatric organ recipients. Thus, surgery in patients with BA treats only the symptoms, but never the cause of the disease. In order to focus on this point, international and interdisciplinary cooperation is mandatory to improve early and effective diagnosis, to optimize surgical therapy, and to coordinate clinical and basic research in BA. Uncovering its unknown aetiology is crucial for developing and modifying new therapeutic attempts to treat the disease, including the opportunities for prophylaxis. Until then, surgical treatment is still the best approach for biliary atresia and, so far, no further prospects are apparent.     

A multivariate analysis of mortality and hospital admissions with high-flux dialysis.

The use of high-flux dialysis in clinical practice increased rapidly despite an absence of reports on the clinical effectiveness of the technique. Mortality and hospital admission rates of patients treated with high-flux dialysis were evaluated and compared with those of patients treated with conventional dialysis in a hospital-based renal dialysis unit in northern California. By use of a retrospective, cross-over design, 253 patients enrolled in the dialysis unit from January 1987 to January 1991 were studied. During this period, 107 patients were treated with high-flux dialysis for at least 1 month, and all but 17 of them had received conventional dialysis before switching to high-flux dialysis. The remaining 146 patients were treated with only conventional dialysis. Of the 80 patients who died during the study period, 69 were receiving conventional dialysis and 11 were receiving high-flux dialysis. The multivariate analyses, adjusted for age, gender, ethnic background, type of renal failure, comorbid conditions, and duration of ESRD, showed that annual mortality was substantially less for patients treated with high-flux dialysis compared with that for patients treated with conventional dialysis (7 versus 20%; P < 0.001). The difference in the rate of hospital admissions was not statistically significant. In this nonexperimental study, methods were applied to control for selectivity bias and other factors that might confound the apparent treatment effect. The findings suggest that the potential benefits of high-flux dialysis are sufficient to justify further confirmation in a randomized, controlled trial.     

Reduced albumin binding of MADDS--a measure of bilirubin binding--during pregnancy and delivery.

It was the purpose of the present study to investigate whether the decrease in the ability of plasma albumin to bind bilirubin, noted in pregnancy and during delivery, takes place in one step, during pregnancy alone, or in two steps, during both pregnancy and delivery. Furthermore, it was investigated whether a possible decrease during labor was related to the method of delivery itself. The material comprised (a) 17 pregnant women who delivered vaginally; (b) 25 women who were delivered by Cesarean Section; and (c) a group of 25 non-pregnant women. The reserve albumin concentration for binding of MADDS (a measure of the binding of unconjugated bilirubin), the total albumin concentration and the ratio between them were constant in the 6-week period up to birth and were significantly lower than the corresponding values in the non-pregnant group. During labor a significant decrease in reserve albumin and ratio of reserve albumin to total albumin was observed, while no change in the total albumin concentration was noted. No significant difference in reserve albumin concentration, total albumin concentration and ratio between them was found when the group of mothers who delivered vaginally was compared to the Cesarean Section group. It is concluded that the decrease in the ability of plasma albumin to bind unconjugated bilirubin takes place stepwise. The first step is a significant reduction during pregnancy followed by a further decrease during labor. The method of delivery is of no significance.     

In-vitro sensitivity of Hodgkin's disease to hydrogen peroxide toxicity. Correlation with peroxidase activity

Hodgkin's disease of nodular sclerosis and mixed cellularity subtypes contains numerous eosinophils and substantial amounts of extracellular eosinophil peroxidase (EPO). To determine if the extracellular EPO retains cytotoxic activity, the authors analyzed cells from 13 cases of Hodgkin's disease and ten cases of benign lymphoid hyperplasia for their in vitro sensitivity to killing by a low concentration of hydrogen peroxide. Cells from cases of benign lymphoid hyperplasia (0.5% +/- 1% killing) and lymphocyte predominant Hodgkin's disease (4.5% +/- 6% killing) were significantly (P less than 0.05) less sensitive to killing by hydrogen peroxide than cells from nodular sclerosis Hodgkin's disease (26% +/- 13% killing) and mixed cellularity Hodgkin's disease (52% +/- 9% killing). The authors concluded that cells from Hodgkin's disease of nodular sclerosis and mixed cellularity subtypes have an increased sensitivity to killing by an otherwise nonlethal concentration of hydrogen peroxide.     

Early growth delay in diabetic pregnancy: relation to psychomotor development at age 4

Ninety nine consecutive insulin dependent and 101 non-diabetic pregnant women were examined by ultrasonograph to assess early fetal growth. In 42 of the diabetic mothers and three of the non-diabetic mothers the scan showed early intrauterine growth delay. At 4-5 years of age all children available for study were evaluated by the Denver developmental screening test. Only 23 of the 34 children of diabetic mothers with early intrauterine growth delay had normal test scores compared with 46 of the 50 children of diabetic mothers with normal intrauterine growth. The children failed in personal-social development, gross motor development, and particularly in language and speech development. Children of diabetic mothers with normal early fetal growth had scores very similar to those of the children of non-diabetic mothers, of whom 76 of the 86 tested had normal scores. This study suggests that children with a history of growth delay in early diabetic pregnancy should be screened for possible developmental impairment.