Subclinical cardiac dysfunction and exercise performance in childhood cancer survivors.

BACKGROUND: Although anthracycline cardiotoxicity is clearly related to the cumulative dose administered, subclinical cardiac dysfunction has been reported across a wide range of treatment regimens, and its clinical significance is still unclear. Purpose of this study is to investigate by exercise echocardiography for subclinical cardiac dysfunction in survivors of pediatric cancer treated with low-moderate anthracycline doses, and to evaluate whether it may alter the response of the cardiovascular system to dynamic exercise. PROCEDURE: Post-exercise left ventricular end-systolic wall stress (ESS), left ventricular posterior wall dimension and percent thickening at end systole, and cardiopulmonary exercise test-derived indexes of cardiac function were examined in 55 apparently healthy patients (mean age 13.5 ± 2.9 years, median anthracycline cumulative dose 240 mg/m(2)) and in 63 controls. RESULTS: Subclinical cardiac dysfunction was identified in 17 patients (30%) presenting reduced left ventricular posterior wall dimension or percent thickening, or increased values of left ventricular ESS as compared to controls (group A), while the remaining patients formed group B. Reduced oxygen consumption at peak exercise in both groups of patients was the only cardiopulmonary exercise test variable resulting significantly different between patients and controls: no differences were found among the groups of patients. CONCLUSIONS: Our results confirm that even patients treated with a median anthracycline dose of 240 mg/m(2) (range 100-490) are at considerable risk of exhibiting subclinical cardiac dysfunction that, however, does not seem to alter the physiologic response of the cardiovascular system to dynamic exercise.

Cognitive Profiles and Brain Volume Are Affected in Patients with Silver-Russell Syndrome.

CONTEXT: There is little information on cognitive function in Silver-Russell syndrome (SRS), and no neuroimaging studies are available so far. OBJECTIVE: To assess cognitive function and brain volumes in patients with SRS. DESIGN/SETTING: Wechsler Intelligence Scale and brain magnetic resonance on a 3-Tesla scanner with Voxel-based morphometry analysis were performed between 2016 and 2018 in a single tertiary university center. PARTECIPANTS: 38 white subjects with clinical diagnosis of SRS confirmed by molecular analysis: 30 of these patients (mean age 12.6 ± 10 years) were enrolled for cognitive assessment; 23 of the 30 performed neuroimaging sequences. A control group of 33 school-aged children performed cognitive assessment while 65 age and sex-matched volunteers were included for the neuroradiological assessment. MAIN OUTCOMES: Intelligence quotient, Verbal Comprehension Index (VCI), Perceptual Reasoning Index (PRI), Working Memory Index (WMI), Processing Speed Index, and brain volume. RESULTS: The mean overall IQ score was 87.2 ± 17, and it was significantly lower in the maternal uniparental disomy of chromosome 7 (mUPD7) group at the age of 6 to 16 years compared to loss of methylation on chromosome 11p15 (11p15 LOM) group and to controls. VCI, PRI, and WMI were significantly higher in 11p15 LOM group and in control group than in mUPD7 group at the age of 6 to 16 years. There were no significant differences in cognitive scores between 11p15 LOM school-aged patients and the control group. SRS patients showed lower brain volume compared to controls at the frontal/temporal poles and globi pallidi. CONCLUSIONS: Patients with mUPD7 had an impaired cognitive profile. The brain volume at the frontal/temporal lobes and at the globi pallidi was reduced in patients with SRS.