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PubMed | IRCCS Institute of Neurological science of Bologna, University of Bologna, University of Ferrara and Bologna Local Health Authority
Type: Journal Article | Journal: Pharmacoepidemiology and drug safety | Year: 2016

Antiepileptic drugs (AEDs) are also prescribed for therapeutic indications other than epilepsy (EPI), namely, psychiatric disorders (PSY). Our aim was to develop an algorithm able to distinguish between EPI and PSY among childbearing age women based on differences in AED exposure in these patient groups.Two groups of women (18-45years) with EPI or PSY treated with AEDs in the first semester of 2010 or 2011 were extracted from paper or electronic medical charts of specialized centers. Through the prescription database of Bologna Local Health Authority (Italy), AEDs, treatment schedule and co-treatments were collected for each patient. A prescription-based hierarchical classification system was developed. The algorithm obtained was subsequently validated on internal and external data.Eighty-one EPI and 94 PSY subjects were recruited. AED monotherapy was the most common choice in both groups (69% EPI vs 79% PSY). Some AEDs were used only in EPI, others exclusively in PSY. Co-treatments with antipsychotics (6% vs 67%), lithium (0% vs 9%), and antidepressants (7% vs 70%) were fewer in EPI than in PSY. The hierarchical classification system identified antipsychotics, SSRIs (Selective Serotonin Reuptake Inhibitors), and number of AEDs as variables to discriminate EPI and PSY, with an overall error rate estimate of 9.7% (95%CI: 5.3% to 14.1%).Among the differences between EPI and PSY, prescription data alone allowed an algorithm to be developed to diagnose each childbearing age woman receiving AEDs. This approach will be useful to stratify patients for risk estimates of AED-treated patients based on administrative databases. Copyright 2016 John Wiley & Sons, Ltd.


PubMed | S. Orsola Malpighi University Hospital, IRCCS Institute of Neurological science of Bologna and University of Bologna
Type: Journal Article | Journal: Journal of pediatric neurosciences | Year: 2016

Pseudohypoparathyroidism (PHP) is a rare heterogeneous genetic disease characterized by end-organ resistance to parathyroid hormone. In adulthood, heterogeneous neurological and psychiatric disorders have been reported which are associated with hypoparathyroidism in general and with PHP in particular, while for childhood, data are scanty. We report a case of a boy with PHP type 1b, in whom neurological signs at the onset prevailed, characterized by tic-like dyskinesias associated with a series of heterogeneous not well-defined neurological and behavioral features, describing the diagnostic work-up performed and the follow-up. We suggest that the diagnostic hypothesis of PHP might be considered when dealing with a child with tic-like dyskinesias, especially if associated with a series of heterogeneous not well-defined neurological and behavioral features. In these cases, treatment with calcitriol and calcium has to be started as soon as possible to achieve a prompt and persistent clinical improvement.


PubMed | University of Rome La Sapienza, IRCCS Institute of Neurological science of Bologna, Diagnostics and Experimental Medicine, University of Bologna and St Orsola Malpighi Hospital
Type: Journal Article | Journal: Annals of neurology | Year: 2016

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a fatal, recessive disease caused by mutations in the gene encoding thymidine phosphorylase, leading to reduced enzymatic activity, toxic nucleoside accumulation, and secondary mitochondrial DNA damage. Thymidine phosphorylase replacement has been achieved by allogeneic hematopoietic stem cell transplantation, a procedure hampered by high mortality. Based on high thymidine phosphorylase expression in the liver, a 25-year-old severely affected patient underwent liver transplantation. Serum levels of toxic nucleosides rapidly normalized. At 400 days of follow-up, the patients clinical conditions are stable. We propose liver transplantation as a new therapy for MNGIE. Ann Neurol 2016;80:448-455.


PubMed | University of Turku, Indiana University, The London Clinic, University of California at Los Angeles and 2 more.
Type: | Journal: Epileptic disorders : international epilepsy journal with videotape | Year: 2016

A high proportion of children with epilepsy have autism spectrum disorder. Although estimates vary, depending both on the population studied and the definitions used, a figure of around 20% has typically been reported. Autism can have a major impact on the life of the child and family. Despite the importance of this comorbidity and although many studies have been performed, a full understanding of the possible links between epilepsy and autism remains elusive. In a minority of cases, for example in the Landau-Kleffner syndrome, the autistic features can be the result of the epilepsy itself. However, there has been a failure to demonstrate that the epilepsy itself plays a major role in most cases. The current evidence seems to point to a common underlying predisposing factor. The discovery of a growing number of genetic defects leading to both conditions would support this explanation of the link.


Nobili L.,Niguarda Hospital | Nobili L.,National Research Council Italy | Proserpio P.,Niguarda Hospital | Combi R.,University of Milan Bicocca | And 9 more authors.
Current Neurology and Neuroscience Reports | Year: 2014

Nocturnal frontal lobe epilepsy (NFLE) is a syndrome of heterogeneous etiology, characterized by the occurrence of sleep-related seizures with different complexity and duration. Genetic, lesional, and cryptogenetic NFLE forms have been described. NFLE is generally considered a benign clinical entity, although severe, drug-resistant forms do exist. A significant proportion of sleep-related complex motor seizures, hardly distinguishable from NFLE, originate outside the frontal lobe. Moreover, the distinction of NFLE from the non-rapid eye movement arousal parasomnias may be challenging. A correct diagnosis of NFLE should be based on a diagnostic approach that includes the anamnestic, video-polysomnographic, morphological, and genetic aspects. Studies on the relationships between genes, arousal regulatory mechanisms, and epileptogenesis, using both clinical and experimental models of NFLE might provide key insights in the interrelationship between sleep and epilepsy. © Springer Science+Business Media 2014.


Makovac E.,IRCCS Santa Lucia Foundation | Garfinkel S.N.,University of Sussex | Bassi A.,IRCCS Santa Lucia Foundation | Basile B.,IRCCS Santa Lucia Foundation | And 12 more authors.
Neuropsychopharmacology | Year: 2015

Autonomic nervous system activity is an important component of human emotion. Mental processes influence bodily physiology, which in turn feeds back to influence thoughts and feelings. Afferent cardiovascular signals from arterial baroreceptors in the carotid sinuses are processed within the brain and contribute to this two-way communication with the body. These carotid baroreceptors can be stimulated non-invasively by externally applying focal negative pressure bilaterally to the neck. In an experiment combining functional neuroimaging (fMRI) with carotid stimulation in healthy participants, we tested the hypothesis that manipulating afferent cardiovascular signals alters the central processing of emotional information (fearful and neutral facial expressions). Carotid stimulation, compared with sham stimulation, broadly attenuated activity across cortical and brainstem regions. Modulation of emotional processing was apparent as a significant expression-by-stimulation interaction within left amygdala, where responses during appraisal of fearful faces were selectively reduced by carotid stimulation. Moreover, activity reductions within insula, amygdala, and hippocampus correlated with the degree of stimulation-evoked change in the explicit emotional ratings of fearful faces. Across participants, individual differences in autonomic state (heart rate variability, a proxy measure of autonomic balance toward parasympathetic activity) predicted the extent to which carotid stimulation influenced neural (amygdala) responses during appraisal and subjective rating of fearful faces. Together our results provide mechanistic insight into the visceral component of emotion by identifying the neural substrates mediating cardiovascular influences on the processing of fear signals, potentially implicating central baroreflex mechanisms for anxiolytic treatment targets. © 2015 American College of Neuropsychopharmacology.


Zanigni S.,University of Lübeck | Giannini G.,University of Lübeck | Melotti R.,University of Lübeck | Pattaro C.,University of Lübeck | And 7 more authors.
European Journal of Neurology | Year: 2014

Background and purpose: A higher prevalence of restless legs syndrome (RLS) in migraineurs has been reported in clinical samples and in two large-scale clinical trials performed on healthcare workers but general population-based studies on this topic are lacking. The aim of this study was to assess the association between migraine and RLS in an Italian rural adult population-based setting. Methods: The presence of migraine and RLS was assessed via a computer-assisted personal interview and self-administered questionnaires according to current diagnostic criteria in 1567 participants of a preliminary phase of an adult population-based study performed in South Tyrol, Italy. Results: Migraineurs had an increased risk of having RLS also after adjustment for confounding factors such as age, sex, major depression, anxiety and sleep quality (odds ratio 1.79; confidence interval 1.00-3.19; P = 0.049). This association was not modified by aura status and possible causes of secondary RLS. RLS was not significantly associated with tension-type headache. Conclusions: Restless legs syndrome and migraine were associated in our rural adult population. This association could be explained by a possible shared pathogenic pathway which would implicate new management strategies of these two disorders. © 2014 EAN.


Favoni V.,IRCCS Institute of Neurological science of Bologna | Favoni V.,University of Bologna | Grimaldi D.,IRCCS Institute of Neurological science of Bologna | Grimaldi D.,University of Bologna | And 5 more authors.
Cephalalgia | Year: 2013

Background: Short-lasting unilateral neuralgiform headache attacks with conjunctival injection and tearing (SUNCT) and short-lasting unilateral neuralgiform headache with cranial autonomic symptoms (SUNA) are primary headache syndromes. A growing body of literature has focused on brain magnetic resonance imaging (MRI) evidence of neurovascular compression in these syndromes. Objective: The objective of this article is to assess whether SUNCT is a subset of SUNA or whether the two are separate syndromes and clarify the role of neurovascular compression. Method: We describe three new SUNCT cases with MRI findings of neurovascular compression and critically review published SUNCT/SUNA cases. Results: We identified 222 published SUNCT/SUNA cases. Our three patients with neurovascular compression added to the 34 cases previously described (16.9%). SUNCT and SUNA share the same clinical features and therapeutic options. At present, there is no available abortive treatment for attacks. Lamotrigine was effective in 64% of patients; topiramate and gabapentin in about one-third of cases. Of the 34 cases with neurovascular compression, seven responded to drug therapies, 16 patients underwent microvascular decompression of the trigeminal nerve (MVD) with effectiveness in 75%. Conclusions: We suggest that SUNCT and SUNA should be considered clinical phenotypes of the same syndrome. Brain MRI should always be performed with a dedicated view to exclude neurovascular compression. The high percentage of remission after MVD supports the pathogenetic role of neurovascular compression. © International Headache Society 2013.


PubMed | IRCCS Institute of Neurological science of Bologna and University of Bologna
Type: | Journal: Jornal de pediatria | Year: 2016

Autism spectrum disorders are lifelong and often devastating conditions that severely affect social functioning and self-sufficiency. The etiopathogenesis is presumably multifactorial, resulting from a very complex interaction between genetic and environmental factors. The dramatic increase in autism spectrum disorder prevalence observed during the last decades has led to placing more emphasis on the role of environmental factors in the etiopathogenesis. The objective of this narrative biomedical review was to summarize and discuss the results of the most recent and relevant studies about the environmental factors hypothetically involved in autism spectrum disorder etiopathogenesis.A search was performed in PubMed (United States National Library of Medicine) about the environmental factors hypothetically involved in the non-syndromic autism spectrum disorder etiopathogenesis, including: air pollutants, pesticides and other endocrine-disrupting chemicals, electromagnetic pollution, vaccinations, and diet modifications.While the association between air pollutants, pesticides and other endocrine-disrupting chemicals, and risk for autism spectrum disorder is receiving increasing confirmation, the hypothesis of a real causal relation between them needs further data. The possible pathogenic mechanisms by which environmental factors can lead to autism spectrum disorder in genetically predisposed individuals were summarized, giving particular emphasis to the increasingly important role of epigenetics.Future research should investigate whether there is a significant difference in the prevalence of autism spectrum disorder among nations with high and low levels of the various types of pollution. A very important goal of the research concerning the interactions between genetic and environmental factors in autism spectrum disorder etiopathogenesis is the identification of vulnerable populations, also in view of proper prevention.


PubMed | IRCCS Institute of Neurological science of Bologna and University of Bologna
Type: Journal Article | Journal: Journal of pediatric neurosciences | Year: 2016

One of the most commonly used complementary and alternative practices in children with autism spectrum disorder (ASD) is the supplementation of omega-3. We describe the case of a child with ASD who seemed to respond to omega-3 supplementation in a relevant and lasting manner. So far, based on the results of randomized clinical trials, evidence-based medicine negates the effectiveness of omega-3 in ASD children. Nevertheless, considering anecdotal experiences, including that of our patient, and nonrandomized trials, the presence of a subgroup of ASD patients who are really responders to omega-3 cannot be excluded. These responders might not appear when evaluating the omega-3 effects in a sample taken as a whole. Studies that check for the possible presence of this subgroup of ASD individuals responders to omega-3 are necessary.

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