1,081 research outputs found
Disturbi cognitivi nell'epilessia del lobo temporale in etĂ evolutiva
Objectives. To describe the impact of childhood temporal lobe epilepsy
(TLE) on cognitive functions.
Material and methods. Nine patients with TLE aged 11-17 years and 18
healty controls were investigated with a comprehensive neuropsychological assessment.
Results. The performance of children with TLE was significantly worse
across language, verbal short term memory and semantic tests, compared with
the controls. Verbal and non-verbal recall was also impaired. A supplementary
investigation of recognition memory showed a selective impairment in topographical
memory.
Conclusions. In our patients, the episodic memory impairment is similar,
although less severe, to that reported in developmental hippocampal amnesia.
Nevertheless, in our patients there are also impairments in semantic memory
and more general language disorders. These data suggest that in TLE patients
there is a more general dysfunction of the medial temporal left functions
Benign nocturnal alternating hemiplegia of childhood: a new case with unusual findings
It has been described a neuro developmental disorder labelled âBenign nocturnal alternating hemiplegia of childhoodâ (BNAHC)
characterized by recurrent attacks of nocturnal hemiplegia without progression to neurological or intellectual impairment. We
report a female patient who at 11 months revealed a motionless left arm, unusual crying without impairment of consciousness
and obvious precipitating factors. The attacks occur during sleep in the early morning with lack of ictal and interictal electroencephalographic
abnormalities, progressive neurological deficit, and cognitive impairment. Unlike previous reports of BNAHC our
patient come from a family with a history of both migraine, hemiplegic migraine, and sleep disorders. Our study remarks on the
typical features described in previous studies and stresses the uncommon aspects that could help to identify the disorder which is
likely to have been underestimated. Despite some clinical similarities between BNAHC and familiar hemiplegic migraine and alternating
hemiplegia of childhood, the genetic analyses of our patient did not reveal genetic mutations found in both disorders
Benign myoclonic epilepsy in infancy: neuropsychological and behavioural outcome
Benign myoclonic epilepsy in infancy (BMEI) is a rare syndrome of idiopathic generalized epilepsies with onset below 3 years of age. It
has been reported that BMEI is associated with a good prognosis, however, recently some studies suggest less favourable neuropsychological
outcome. We report a long-term follow-up of seven patients with BMEI. Seizure outcome and neuropsychological, cognitive, and
behavioural evolution were discussed for each of them. At the end of follow-up, 86% of children showed neuropsychological and intellectual
disorders: two children had mental retardation, three patients achieved a borderline IQ and one normal but low IQ. All but one displayed
neuropsychological disabilities including fine motor skill deficits, attention deficits, and language impairment and learning disorders. Our
clinical data and the previous reports suggest that the early onset of the seizures may be one of the main factors of the illness giving rise to a
less favourable outcome. Additional interacting factors such as delayed start of treatment, and efficacy of the drugs may play an important
role, too. We believe that BMEI does not exert, different from some epileptic encephalopathies, a quick destroying effect but may interfere
with the growth of developing functions, which results in long-term neuropsychological disabilities
Resolution of enuresis with aripiprazole in children with psychiatric disorders: two case reports
Background: Aripiprazole is a third-generation atypical antipsychotic drug that acts as a stabilizer of the dopaminergic and serotonergic system. As partial agonist of the dopamine (D2) and serotonin (5-HT1A) receptors, it appears to
be efective in reducing mania in patients with bipolar disorder, tics in Tourette Syndrome, aggression in schizophrenia and autism spectrum disorder. Enuresis has been reported among its side efects. Only a few studies, with conficting results, have investigated the relationship between aripiprazole and enuresis.
Case presentation: We report the disappearance of enuresis in a Caucasian girl with intellectual disability and oppositional defant disorder and in a Caucasian boy with intellectual disability and early-onset psychosis, both following
initiation of treatment with aripiprazole.
Conclusion: The aim of this study was to contribute to the literature on the use of aripripazole in subjects with enuresis. Our fndings lead us to suggest that aripiprazole is less burdened with side efects, including bedwetting, than
other antipsychotic drugs
Radioactivity of Mt. Etna volcano and radionuclides transfer to groundwater
The paper presents the results of a radiometric survey carried out on the eastern flank of Mt.
Etna over an area of approximately 120 km2.
Activity concentrations of 238,234U, 232,230,228Th, 226,228Ra, from 238U and 232Th decay chains,
and potassium 40K were determined using α- and γ- spectrometry techniques. All rock samples
presented activity concentrations of U, Th and Ra isotopes ranging from 20 Bq kg-1 to about 90
Bq kg-1, and they showed no particular compositional variations over the investigated area. Based on
their respective elemental concentrations, the isotopic ratios of different elements were studied to
check the presence of radioactive equilibrium, or disequilibrium, in the decay chains. Moreover, an
attempt to calculate radionuclide transfer factors from soil to water was made, and the radiological
risk resulting from ingestion of these isotopes contained in drinking water was calculated. The results
were compared with current regulations on the quality of drinking water
Natural radioactivity content in groundwater of Mt. Etna's eastern flank and gamma background of surrounding rocks
Waters of Mt. Etna are the main source of drinking water for the local population and are also distributed in municipal supply systems to neighbouring areas. Radioactivity in underground waters and surrounding rocks from the eastern flank of Mt. Etna was investigated on the basis of 9 water and 8 rock samples from 12 localities altogether. Three samples were from water drainage galleries and six from water wells. All water intakes are used for consumption. Activity concentration of uranium isotopes234,238U, radium isotopes226,228Ra and radon222Rn were determined with the use different nuclear spectrometry techniques. The determination of uranium isotopes was carried out with the use of alpha spectrometry. The measurements of radium and radon activity concentration in water were performed with the use of a liquid scintillation technique. Additionally, rocks surrounding the intakes were examined with gamma spectrometry. All water samples showed uranium concentration above Minimum Detectable Activity (MDA), with the highest total uranium (234U +238U) activity concentration equal to 149.2±6 mBq/L. Conversely, all samples showed radium isotopes activity concentrations below MDA. Radon activity concentration was within the range from 2.91±0.36 to 21.21±1.10 Bq/L, hence these waters can be classified as low-radon waters. Gamma natural background of the rocks surrounding the water sampling sites was found on the same levels as other volcanic rocks of Italy
The hairy elbows syndrome: clinical and neuroradiological findings.
The hairy elbows syndrome (HES) is a rare congenital phenotype characterized by an abnormal increase in long hairs localized on the upper limbs extensor surfaces. This feature is often associated with short stature, facial asymmetry, dysmorphisms, intrauterine growth retardation (IUGR), and mental and speech delay. We report a case with hypertricosis cubiti associated with infantile spasms, behaviour disorders and cerebral hemisphere asymmetry. Although these findings have not been previously described we are uncertain whether they are unusual or underestimated. However, it is likely that these neurological findings are strongly interrelated leading to a more severe phenotype of the syndrome
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