Prognostic value of CD34+ peak in peripheral blood during mobilization in intermediate-risk AML patients treated in first CR by autologous or allogeneic transplantation.

Ninety-six AML patients in 1st CR were evaluated for peak CD34+ cell levels in peripheral blood (PB) during PBSC mobilization and harvest. Distribution of CD34+ cell peaks was determined and cases were grouped on the basis of 50th and 75th percentile: group A, those having a CD34+ cell peak ≤70 × 10(9)/L (n=48); group B, those having a CD34+ cell peak between 70 and 183 × 10(9)/L (n=24); group C, those having a CD34+ cell peak >183 × 10(9)/L (n=24). Irrespective of post-remission treatment received, group A had a disease free survival (DFS) of 73%, group B a DFS of 51% and group C of 30% (P=0.0003). In intermediate cytogenetic risk patients, those treated by autologous transplantation had a DFS of 68, 33 and 14% in the groups A, B and C, respectively, (P=0.01) whereas after allogeneic transplantation DFS was 87% in group A+B vs 50% in group C (P=0.009). The peak of CD34+ cells in PB, was an independent predictor for DFS in multivariate analysis.

An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation.

Neurofibromatosis type 1 (NF1) is characterized by cafe-au-lait spots, skinfold freckling, and cutaneous neurofibromas. No obvious relationships between small mutations (<20 bp) of the NF1 gene and a specific phenotype have previously been demonstrated, which suggests that interaction with either unlinked modifying genes and/or the normal NF1 allele may be involved in the development of the particular clinical features associated with NF1. We identified 21 unrelated probands with NF1 (14 familial and 7 sporadic cases) who were all found to have the same c.2970-2972 delAAT (p.990delM) mutation but no cutaneous neurofibromas or clinically obvious plexiform neurofibromas. Molecular analysis identified the same 3-bp inframe deletion (c.2970-2972 delAAT) in exon 17 of the NF1 gene in all affected subjects. The Delta AAT mutation is predicted to result in the loss of one of two adjacent methionines (codon 991 or 992) ( Delta Met991), in conjunction with silent ACA-->ACG change of codon 990. These two methionine residues are located in a highly conserved region of neurofibromin and are expected, therefore, to have a functional role in the protein. Our data represent results from the first study to correlate a specific small mutation of the NF1 gene to the expression of a particular clinical phenotype. The biological mechanism that relates this specific mutation to the suppression of cutaneous neurofibroma development is unknown.

Maternal corticosterone influences behavior, stress response and corticosteroid receptors in the female rat.

In infancy, glucocorticoids have been shown to affect hypothalamus-pituitary-adrenal (HPA) axis activity and behavior. Both the activity of the HPA axis and many aspects of behavior exhibit important gender-dependent differences physiologically. In our previous studies, male offspring of hypercorticosteronemic mothers show long-lasting changes of learning as well as adrenocortical activity. In the light of these findings, this study aims to determine the long-term effects of glucocorticoids in the early stages of life in female rats. Corticosterone (200 microg/ml) was added to the drinking water of the dams. Female offspring exhibited lower adrenocortical secretory response to stress, improvement in learning (water maze at 21, 30 and 90 days; active avoidance at 15 months) and reduced fearfulness in anxiogenic situations (dark-light test at 1 and 15 months; conditioned suppression of drinking at 3 months; plus maze at 15 months) after weaning, from 21 days up to 15 months of age, but not before. No difference in hippocampal adrenocorticoid receptors was observed. These results, together with previous data on male offspring, show that the outcomes of maternal hypercorticosteronemia on hormonal stress response and behavior are similar in males and females, but the effects on some aspects of the HPA axis activity are gender-dependent. Possible explanations for these differences are discussed.

Maternal glucocorticoid hormone influences nerve growth factor expression in the developing rat brain.

Rat pups nursed from birth by mothers with increased plasma corticosterone show long-lasting biochemical and behavioral modifications. Here we have investigated nerve growth factor (NGF) concentrations in the basal forebrain, prefrontal cortex and hippocampus of both male and female offspring at 11 days of age. Maternal hypercorticosteronemia was achieved by giving corticosterone-enriched water (200 microg/ml) from delivery. There was a significant increase of NGF in the basal forebrain of both sexes and no changes in the prefrontal cortex. In the hippocampus, an increase in NGF was found in males. These results indicate that a moderate increase of corticosterone in the lactating mother modulates NGF in the developing rat. We propose that these effects contribute directly to the long-lasting behavioral and biochemical modifications in pups nursed by hypercorticosteronemic mothers.

Disorders of micturition in neurological patients. A clinical study of 786 patients.

Our aim was to evaluate the utility and effectiveness of a study protocol for neurological involvement in neurological disorders. We studied a sample of 786 patients with neurological disorders followed by the Neurological Department of Catania University and applied to them a four-step diagnostic protocol. Fifty-six per cent of the sample showed urological functional abnormalities; only 78 patients (9.9%) presented with an organic urological disease. Among the vesicosphincteric dysfunctions, bladder hyperreflexia was the most common pattern with remarkable differences between diseases. The present study demonstrated the utility of a standardized urological protocol in the screening and detection of neurological involvement in neurological diseases. Our protocol showed good specificity and reasonable low costs.

[Pattern of normal fetal heart rate in the third trimester of pregnancy]. / Il profilo della frequenza cardiaca fetale media nel corso del terzo trimestre di gravidanza.

BACKGROUND: It has been shown by previous studies that the mean fetal heart rate (FHR) decreases from the 11th to the 30th week, afterwards the values remain more stable. In the present study we evaluated the FHR pattern throughout the last stages of pregnancy and particularly we estimated the interindividual variability to achieve the maturation of the parasympathetic nervous system in the control of the FHR rythm. METHODS: Serial FHR determinations were made from the 28th week until term in 126 physiological pregnancies, submitted to umbilical Doppler velocimetry. The mean FHR was measured on the length of 6 cardiac beats. The FHR patterns of 48 healthy pregnancies, were also analyzed longitudinally. RESULTS: The transversal data, related to the 126 physiological pregnancies, show a further decrease of the FHR during the last stages of pregnancy: from the 28th to 40th week it drops from the average value of 141 bpm to 133 bpm (r = -0.1469). The longitudinal data show that this decrease occurs in 27% of patients between the 30th and the 33rd week and in 73% of patients between the 34th and the 40th week. CONCLUSIONS: The conclusion is drawn that the physiological decrease of the mean FHR value occurs for each fetus at different gestational ages due to a different balance between the sympathetic and parasympathetic tone; moreover, we find that the interindividual variability in achieving the full maturation of the parasympathetic nervous system is quite wide.

[Cardiotocographic monitoring of fetal health. Comparative evaluation of traditional and computerized methods]. / Monitoraggio cardiotocografico del benessere fetale. Valutazione comparativa fra la metodica tradizionale e quella computerizzata.

One hundred physiological pregnant women and 76 pathological pregnant women suffering from gestational diabetes and pregnancy-induced hypertension underwent a cardiotocographic examination during the course of routine diagnostic tests. The interpretation of cardiotocographic printouts was carried out using traditional as well as computerised methods. The outcome of these tests was then related to neonatal outcome and other parameters which contributed to defining the prognosis of pregnancy. Computerised analysis was found to provide a more reliable diagnosis in comparison to traditional methods in identifying those pregnancies with a pathological neonatal outcome. In particular, in the group of physiological pregnancies, computerised interpretation proved more reliable in 87.5% of cases in which neonatal outcome was pathological; on the contrary, traditional interpretations only revealed 37.5% of the same cases. In pathological pregnancies, automatic interpretation was also found to be more reliable in predicting the non-pathological outcomes, whereas traditional methods provided a high incidence of uncertain answers.