Sporadic aneuploidy in PHA-stimulated lymphocytes of trisomies 21, 18, and 13.

Following the observation detected in a previous study that X chromosome monosomy in Turner's syndrome genotypes was associated with a sporadic loss and/or gain of other chromosomes, we studied here whether this instability is a consistent finding in constitutional autosomal trisomies. We used PHA-stimulated lymphocytes derived from 14 patients (10 patients with trisomy 21, 2 with trisomy 18, and 2 with trisomy 13). Fourteen healthy controls were compared. Fluorescence in situ hybridization, applied at interphase cells, was used to evaluate the level of aneuploidy for 3 randomly selected chromosomes (autosomes 8, 15, and 16) in each sample. For each tested chromosome, our results showed a significantly higher level of aneuploid cells in the samples from the patients than in those from controls, with no difference between the patient groups. The mean level of aneuploid cells (percentage) for all 3 tested autosomes was almost twice as high in the patient samples as in the control samples. The aneuploidy level was mainly due to monosomy, which was significantly higher in the samples from the patients than in those from controls for each one of the tested chromosomes, with no difference between the patient groups. The mean level of monosomic cells (percentage) for all 3 tested chromosomes was almost twice as high in the patient samples as in the control samples. Our study shows that various constitutional autosomal trisomies are associated with an increased frequency of non-chromosome specific aneuploidy and is a continuation of the previous study documenting sporadic aneuploidy in Turner's sample cells. It is possible that primary aneuploid cells destabilize their own genome resulting in variable aneuploidy of other chromosomes. It is also possible that one or several common factor(s) is/are involved in both constitutional and sporadic aneuploidy.

The I1307K APC mutation in a high-risk clinic setting: a follow-up study.

While the I1307K APC mutation clearly confers an increased lifetime risk for colorectal cancer, there is a paucity of data on the natural history of colonic neoplasia in symptomatic and asymptomatic mutation carriers. In this study, 51 Jewish I1307K APC mutation carriers were identified in a high-risk familial cancer clinic over a 4-year period, of whom 29 (56.8%) (four males and 25 females) were successfully telephone interviewed for 0.5-5 years (mean 2.4 +/- 1.4) after initial genetic testing. Of these 29 cases, one individual was diagnosed with colon cancer at the age of 45 years, five had adenomatous polyps (mean number of polyps = 1.8), 11 had breast cancer (mean age at diagnosis 49.5 +/- 10.5 years), and 12 were asymptomatic, at the time of the testing. During the follow-up period, new colonic polyps were diagnosed in three mutation carriers, two with previously diagnosed colon cancer and polyps and only one of the asymptomatic mutation carriers, and two additional previously affected patients had new cancer diagnoses: gastric cancer and melanoma. From this descriptive study, it seems that the short-term risk for colonic polyps in I1307K APC mutation is low, primarily affecting patients with previously diagnosed colon tumors.

Quality and correlates of physical activity counseling by health care providers in Israel.

BACKGROUND: The quantity and quality of physical activity counseling by the health care provider can have a profound impact on improving the physical activity of the older population. This study presents an estimate of the quality and quantity of physical activity counseling and tests the associations of different variables with physical activity. METHODS: A random telephone survey of 793 Israeli residents between the ages of 45 and 75 was conducted. Counseling by a health care provider was evaluated using a three-stage approach--assess, advise, and assist. RESULTS: Of those visiting a doctor in the last 3 months 22, 16, and 7% were assessed, advised, and assisted, respectively, regarding physical activity by a health care provider. At all three stages, receiving weight reduction counseling was a main variable correlated with receiving physical activity counseling (OR 3.38-2.43). Having a chronic disease was associated with being assessed; smoking and being a recent immigrant were associated with getting assistance on physical activity. Visiting a health care provider in the last 3 months, and being physically active were also associated with counseling. The dietitians and the physicians had the highest quality and rates of counseling in all three stages. CONCLUSION: It seems that a sedentary lifestyle is not regarded as an independent risk factor during counseling, but more as an important part of weight reduction. An evaluation of physical activity counseling by the three stages can be used to assess the quality of the counseling.

Treatment of neonatal hyperbilirubinemia with repetitive oral activated charcoal as an adjunct to phototherapy.

The efficacy of multiple dose oral activated charcoal (OAC) therapy for neonatal hyperbilirubinemia was prospectively studied in 30 jaundiced newborns receiving phototherapy, randomly assigned to a study group (n = 14) or control group (n = 16). The study group received OAC before meals with a total amount of 8.5 +/- 0.85 gms (M +/- SEM). Serum bilirubin levels upon initiation of phototherapy were (M +/- SEM) 265 +/- 8 and 253 +/- 4 mumol/L respectively. After 24 hours there was no significant decrease in serum bilirubin levels in the control group (M +/- SEM = 240 +/- 8 mumol/L) but bilirubin levels of the study group decreased (M +/- SEM = 235 +/- 7 mumol/L, p < 0.02). At 48 hours serum bilirubin levels were significantly lower than baseline values in both groups. However, the decline in bilirubin levels in the study group (M +/- SEM = 56 +/- 10 mumol/L) was greater than that of the controls (M +/- SEM = 21 +/- 10 mumol/L p < 0.02). Oral activated charcoal seems to be an effective adjunct to phototherapy in the treatment of neonatal hyperbilirubinemia.

Cerebrospinal fluid ascorbic acid levels during the neonatal period.

Corresponding plasma and cerebrospinal fluid ascorbic acid levels were determined in 13 term and 17 preterm newborn infants during the neonatal period. On the first day of life preterm C.S.F ascorbate value of 5.2 +/- 0.8 mg/dl (mean +/- S.E.) was higher than the 3.8 +/- 0.3 mg/dl value in term infants (P less than 0.1). Later determinations during the neonatal period did not demonstrate a difference between term and preterm C.S.F ascorbate values and levelled at 2.9 +/- 0.2 mg/dl. There was a significant negative correlation between the C.S.F/plasma ascorbate ratio and the plasma ascorbate levels and the shape of the regression line was suggestive of a saturable active ascorbate transport from the plasma into the cerebrospinal fluid. Ascorbic acid in the C.S.F of additional six neonates with a neurological disorder was lower than expected on the basis of their plasma levels, the C.S.F/plasma ascorbate ratios being 8.3 +/- 0.9 in the apparently normal infants and 3.7 +/- 0.6 in the neurological patients, (P less than 0.025). The possible mechanism of ascorbate loss from the central nervous system is discussed and it is speculated that ascorbic acid administration following a neurological insult may prove beneficial.