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Ruolo dei polimorfismi del PAI-1 e della trombosi intratumorale nell'invasività dei tumori infantili
No full textFunctional neuroradiologic investigations in band heterotopia
No full textBand heterotopias are an example of genetic generalized neuronal migration disorders that may be present in patients with mild epilepsy and normal or slightly impaired intellect, as well as in patients with intractable epilepsy and mental retardation. The case of a 17-year-old left-handed female patient with epilepsy and normal cognitive development is reported in whom single-photon emission computed tomography (SPECT), proton magnetic resonance spectroscopy, and functional magnetic resonance imaging (fMRI) were performed. MRI revealed the presence of bilateral asymmetric band heterotopia, SPECT revealed a left frontoparietal and occipital hypoperfusion, demonstrating a good correlation with the electroencephalogram abnormalities. Because of the appearance of new types of seizures, the patient underwent a second MRI investigation together with a proton magnetic resonance spectroscopy (MRS) study, MRI confirmed bilateral band heterotopia characterized by greater thickness in the left hemisphere at the frontal and occipital level. MRI and SPECT findings were in agreement wi th left occipital electroencephalogram abnormalities and with occipital seizure type. Qualitative results of proton MRS revealed normal spectra profiles in the examined left frontal and occipital heterotopic area and in the normal overlying cortex. Later, fMRI was performed. The finger-tapping test of the right hand yielded the activation of both normal left sensory-motor cortex and the facing band heterotopia, In the right hemisphere, only the activation of the sensory-motor neocortex was observed; no involvement of the right misplaced brain tissue was present. This functional behavior could be considered the consequence of poor neuronal representation. On the contrary, the involvement of both band heterotopia and normal cortex observed in the left hemisphere could be the result of many synaptic interconnections. Functional investigations may have an important role in defining the activity of band heterotopia per se and in relation to the overlying neocortex. (C) 2001 by Elsevier Science Inc. All rights reserved
MTHFR homozygous mutation and additional risk factors for cerebral infarction in a large Italian family.
No full textSeveral cases with cerebral infarctions associated with the C677T mutation in the methylenetetrahydrofolate reductase gene (MTHFR) have been reported. Given the large number of asymptomatic individuals with the MTHFR mutation, additional risk factors for cerebral infarction should be considered. This study describes a large family with the MTHFR mutation and a combination of heterozygous factor V Leiden mutations and different additional exogenous and endogenous thrombogenic risk factors. Psychomotor retardation and a left fronto-insular infarct associated with the MTHFR mutation together with diminished factor VII and low level of protein C was documented in the first patient. In the second patient, generalized epilepsy and a malacic area in the right nucleus lenticularis was associated with the MTHFR mutation and a low level of protein C. In the third patient, right hemiparesis and a left fronto-temporal porencephalic cyst were documented, together with the MTHFR mutation and hyperhomocysteinemia. An extensive search of additional circumstantial and genetic thrombogenic risk factors should be useful for prophylaxis and prognosis of infants with cerebral infarctions associated with the MTHFR mutation and of their related family members
Superoxide release by human polymorphonuclear leukocytes in the presence of deferoxamine
No full textBackground and Objective. Anecdotal reports in patients with acute and chronic iron overload have recently indicated that the efficacy and safety of an alternative chelation program including intravenous and/or continuous delivery of deferoxamine (DFO) may be in contrast with the risk of developing lung injury. Production of oxygen radicals has been postulated to be an important mechanism by which polymorphonuclear leukocytes (PMNs) could cause tissue injury in patients undergoing this alternative treatment method. Methods. PMNs obtained from healthy donors were incubated at 37 degrees C for 30 min with DFO (across the drug concentration 0.125 to 10 mg/mL). Superoxide (O-2(-)) production was measured by superoxide inhibitable cytochrome c reduction as well as by an NBT densitometric kinetic test. In the same run the effect of lipid peroxidation was demonstrated by means of a malonyl-dialdehyde (MDA) assay. Results. Preincubation of PMNs with any study concentration of DFO significantly enhanced O-2(-) release as well as MDA production upon PMA stimulation. Maximal intracellular and extracellular O-2(-) release as well as MDA production occurred at certain drug concentrations. Interpretation and Conclusions. Our in vitro findings suggest that O-2(-) release may be an additional detrimental contribution to tissue injury in some patients who develop pulmonary toxic effects while on intravenous and/or continuous DFO administration. (C) 1997, Ferrata Storti Foundation
Periventricular nodular heterotopia: Report of a pediatric series
No full textPeriventricular nodular heterotopia is a malformation that, occurs in both males and females and is associated with a variety of clinical and neuroradiolooic signs. A gene called filamin-1 (FLN-1) has recently been identified. We review the clinical and imaging findings from a series of pediatric patients with periventricular nodular heterotopia. Five patients (three males and two females; age range 4-18 years) were investigated. In our series, periventricular nodular heterotopia can be the common denominator in different conditions. Periventricular nodular heterotopia can occur alone or be associated with cortical malformations. Epilepsy was present in three of the five patients and was resistant to drugs in one female. Mental retardation was present in three of the five patients. Two male patients had normal intelligence, with no cortical anomalies, patient 3 had unilateral periventricular nodular heterotopia. The associated malformations were more severe in the female patients and slight only in patient 1. The two females showed anomalies rarely reported in association with bilateral periventricular nodular heterotopia. We believe that other genes can be involved in children with atypical neuroradiologic periventricular nodular heterotopia. No mutations were. detected in 6 of the 48 exerts of the FLN-1 gene, although this does not allow any definitive conclusions to be reached. We conclude that our series of patients with periventricular nodular heterotopia clearly highlights the complexity of the clinical, neurologic, and neuroradiologic characteristics associated with this malformation
Elevated Serum Concentrations of Remnant Cholesterol Associate with Increased Carotid Intima-Media Thickness in Children and Adolescents
No full textOBJECTIVE: To evaluate the relationship between remnant cholesterol and carotid intima-media thickness (cIMT), a surrogate marker for atherosclerosis, in children and adolescents.STUDY DESIGN: Anthropometric, laboratory, liver and carotid ultrasonographic data were obtained from 767 youths (594, overweight/obese; 173, normal weight). Fasting RC was calculated from the standard lipid profile. cIMT ≥ 0.56 mm (corresponding to the 90th percentile of values observed in normal-weight children) was chosen to define elevated cIMT. Logistic regression analysis was used to estimate the risk of elevated cIMT according to tertiles of RC levels.RESULTS: In the entire cohort, the mean concentration of RC was 17.9±10.3 mg/dl and mean cIMT value was 0.51±0.8 mm. Remnant cholesterol significantly correlated with age, sex, body mass index (BMI), waist circumference, blood pressure, lipids, liver enzymes, and insulin resistance (HOMA-IR). cIMT value increased progressively with rising RC tertiles (Pfor trend<0.001). Compared with subjects in the lowest RC tertile, those in the middle and highest RC tertiles had a 2.3- and 2.4-fold increased risk of elevated cIMT, independently of age, sex, pubertal stage, BMI and apolipoprotein B (all Padj≤0.003). When the effects of overweight/obesity on the association between RC and cIMT were determined, normal-weight as well as overweight/obese subjects in the highest RC tertile had a 3.8- and 2.3-fold increased risk to have elevated cIMT compared with the respective study groups in the lowest tertile, after adjustment for conventional risk factors (Padj=0.038 and Padj=0.003, respectively).CONCLUSION: In youths elevated levels of remnant cholesterol might represent a marker of early atherosclerotic damage
Visual field constriction in children with epilepsy on vigabatrin treatment
No full textVigabatrin is considered the drug of choice for infantile spasms and simple and complex partial epilepsy in childhood. Its mechanism of action relies on the irreversible inhibition of gamma-aminobutyric acid (GABA) transaminase. Since June 1997 several articles have been published reporting visual field constriction in adult patients on vigabatrin therapy. Recently, 7 pediatric patients, 1 on vigabatrin monotherapy and 6 on add-on therapy with visual field constriction have been described. We have observed 30 pediatric patients with epilepsy (14 boys and 16 girls), ages ranging from 4 to 20 years (mean: 11 years and 2 months) treated with vigabatrin for infantile spasms, simple and complex partial epilepsy, who had never complained of ophthalmologic disturbances. Twenty-one patients underwent complete routine ophthalmologic examination (fundus oculi, visual acuity, intraocular pressure, and visual field tests); 9 children (< 6 years old) underwent only fundus examination, because collaboration was lacking. We report on 4 children showing constriction of visual field, prevailing in nasal hemifield. In 1 child, visual abnormalities were stable even 10 months after vigabatrin discontinuation, while in another a greater improvement was observed 5 months after discontinuation. The possible mechanisms have been discussed and the cone dysfunction, connected with GABA augmentation in the outer retina, has been outlined. We suggest a possible protocol to control visual abnormalities in epileptic children
SUPEROXIDE PRODUCTION BY NEUTROPHILIS IN CHILDREN WITH MALIGNANT TUMORS TREATED WITH RECOMBINANT HUMAN GRANULOCYTE COLONY STIMULATING FACTOR
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