1,721,116 research outputs found
Neuropsychiatric features and genetic aspects in 22q11.2 deletion syndrome
Full text linkIntroduction. 22q11.2 Deletion Syndrome (22q11.2DS; MIM #192430, MIM #188400) is the most common recurrent microdeletion in humans. The phenotypic spectrum of this syndrome encompasses a heterogeneous range of manifestations. The psychiatric and neurocognitive features have received an increasing attention over the last years and 22q11.2DS is considered as the genetic model of schizophrenia. However, the neurological manifestations are far from being fully clarified.
Based on these considerations, in our study we selected an adult population of patients with an established molecular diagnosis of 22q11.2DS and we described the neuropsychiatric features focusing on the neurological manifestations and investigating their possible correlation with general clinical features and genomic size deletion.
Methods. All subjects were evaluated by a multidisciplinary team. The neuropsychiatric features were investigated by means of clinical, neurophysiological evaluation (video-EEG) and neuroimaging (Brain MRI). All clinical data regarding patient's neuropsychiatric history and general medical comorbidities were collected and integrated with instrumental data.
As regards the genomics, for each patient with an a-CGH test, we evaluated the deletion length and gene content. For selected cases also CNVs outside the 22q deleted region were considered
Results. We enrolled 85 adult patients with a confirmed genetic diagnosis of 22q11.2DS.
The molecular diagnosis was made by using FISH approach in 46 cases and a-CGH in 39 patients. Twenty-seven patients had a LCR22 A-D deletion. Further potential pathogenic CNVs were analyzed in 26/39 patients and only in six cases additional CNVs were detected.
About 88% of patients has a de novo deletion. The 22q11.2 deletion results from variable-sized deleted regions, ranging from small deletions to a typically deleted region of ~3 Mb.
Twenty-four patients were left-handed. Twenty-eight subjects had a low IQ, and 30 of 85 subjects had psychotic disorders. Twenty-two patients reported at least one seizure in their lifetime, and twelve were diagnosed with epilepsy. Video-EEG recordings revealed generalized epileptiform abnormalities in 34 of 85 cases. Besides, only one patient with epilepsy had a cardiac malformation.
Lastly, 34 subjects presented with parkinsonism 19 of whom were taking neuroleptics. None of the 15 patients with parkinsonism, not related to neuroleptic therapy, was diagnosed with epilepsy. 52 patients performed a brain MRI that disclosed, in most of cases, a white matter gliosis not associated with specific pathologic entity.
Conclusions. 22q11.2DS is characterized by left-handedness and neuropsychiatric features such as cognitive impairment, schizophrenia, epilepsy and parkinsonism. Generalized genetic epilepsy, mostly the juvenile myoclonic epilepsy phenotype, is the predominant epilepsy type. The significant association between 22q11.2DS and parkinsonian features confirms patients’ genetic susceptibility to parkinsonism. Despite the lack of conclusive evidence, our study suggests a possible relationship between the analyzed clinical variables: (1) an inverse correlation between low IQ/psychosis/epilepsy and major cardiac diseases; (2) a direct association between psychosis and both mental delay and epilepsy; and (3) an inverse correlation between parkinsonism and epilepsy.
Referring the correlation to cytogenetic analysis, neuropsychiatric aspects appear to be part of the phenotype associated with the “typical” (LCR22-A to LCR22-D) deletion or “minimal critical” (LCR22-A to LCR22-B) deletion. This suggests that the relevant genes for neuropsychiatric manifestations could be located within the “minimal critical” region. Among the patients that performed a-CGH, six had a rare CNVs outside 22q11.2 deletion region. In all cases, patients carried the “typical” 22q11.2 deletion
Epilessia ed Emicrania. Terminologia, aspetti clinici comuni e divergenze
No full textLa cefalea/emicrania di origine epilettica dovrebbe essere sempre sospettata in pazienti che non rispondono a un trattamento con farmaci antiemicranici sintomatici, al fine di eseguire prontamente una registrazione EEG e formulare di conseguenza una corretta diagnosi e terapia
Going Beyond Counting First Authors in Author Co-citation Analysis
Full text linkThe present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation
counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings
are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that
only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into
account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed
End-of-life: still an Italian dilemma
No full textIn Italy the debate on the end-of-life scenario is still in progress. Many political and religious personalities or associations have expressed a wide range of opinions
Tiagabine in glial tumors.
No full textPreliminary reports have suggested a possible 'aetiology-specific' efficacy of tiagabine (TGB) in patients with drug-resistant partial epilepsy (DRPE) related to cerebral glial tumors (GTs). This efficacy should be related to selective blocking of GAT-1 transporter by TGB. We presented our open-label, add-on TGB experience in a group of patients with GTs, compared with other symptomatic DRPEs of different aetiology.eleven patients with DRPE related to oligodendroglioma (six cases), astrocytoma (4) or multiform gliobastoma (1); 12 patients with DRPE related to a miscellanea of CNS lesions. TGB was added to previous AEDs, at dosage of 20-60 mg per die. Responders are defined by seizure frequency reduction >50\% compared with baseline.Seven patients are responders with three seizure-free (SF) in GTs group, a rate of efficacy much higher than in matching group (63.6 vs. 16.6\%). Adverse events have been observed only rarely, not leading to discontinuation, in GTs group.This preliminary observation seems to confirm the high efficacy and tolerability of TGB in DRPE related to GTs
Variations on the Author
Full text link“Variations on the Author” discusses two of Eduardo Coutinho’s recent films (Um Dia na Vida, from 2010, and Últimas Conversas, posthumously released in 2015) and their contribution to the general question of documentary authorship. The director’s filmography is characterized by a consistent yet self-effacing form of authorial self-inscription: Coutinho often features as an interviewer that rather than express opinions propels discourses; an interviewer that is good at listening. This mode of self-inscription characterizes him as an author who is not expressive but who is nonetheless markedly present on the screen. In Um Dia na Vida, however, Coutinho is completely absent form the image, while Últimas Conversas, on the contrary, includes a confessional prologue that moves the director from the margins to the center of his films. This article examines the ways in which these works stand out in the filmography of a director who offers new insights into the notion of cinematic authorship
Incoercible topiramate-related vomiting in a patient with epilepsy and mental retardation
No full textAppropriate Similarity Measures for Author Cocitation Analysis
Full text linkWe provide a number of new insights into the methodological discussion about author cocitation analysis. We first argue that the use of the Pearson correlation for measuring the similarity between authors’ cocitation profiles is not very satisfactory. We then discuss what kind of similarity measures may be used as an alternative to the Pearson correlation. We consider three similarity measures in particular. One is the well-known cosine. The other two similarity measures have not been used before in the bibliometric literature. Finally, we show by means of an example that our findings have a high practical relevance.information science;Pearson correlation;cosine;similarity measure;author cocitation analysis
Topiramate as add-on therapy in drug-resistant localization-related epilepsies: efficacy and tolerability
No full textRATIONALE: The aim of this study is to investigate efficacy and tolerability of topiramate (TPM) add-on therapy in Drug resistant (DR) Localization Related Epilepsies.
METHODS: Forty-two patients (22 M and 20 F) affected by DR Localization Related Epilepsies entered the study after informed consent. Mean age was 32.3 years (range 17-59). Twenty four patients (57.1%) were affected by Symptomatic Localization Related Epilepsies and 18 (42.9%) by Cryptogenic Localization
Related Epilepsies. All patients were already treated with 14 antiepileptic drugs (AEDs) with plasma levels within therapeutic ranges. TPM was given as add-on treatment with doses ranging from 150 to 600 mg/day. After TPM titration all patients entered a follow-up period lasting at least 6 months (mean 9.8 months). Patients were considered responders when seizures showed a 2 50% reduction with respect to the 6-month period preceding TPM add-on.
RESULTS: In the whole group responders were 26 (61.9%) with 3 patients (7.1%) completely seizure free. No significant differences in seizure response were observed between Symptomatic and Cryptogenic Epilepsies. Side effects were reported in 13 patients (31.0%), consisting mainly of weight reduction. This phenomenon was generally transient and did not lead to discontinuation of TPM therapy.
CONCLUSIONS: TPM add-on treatment showed a good efficacy and tolerability in DR Localization Related Epilepsies. The most frequent side effect was weight reduction
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