1,721,003 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
Ictal epileptic headache in adult life: Electroclinical patterns and spectrum of related syndromes
No full textObjectives: Both headache and epilepsy are frequent paroxysmal disorders that often co-occur or are related in
numerous ways. Although ictal epileptic headache has become the focus of several studies, this remains a very
rare and notwell-known phenomenon. Electroclinical features, pathophysiology, and syndromic context are heterogeneous.
We investigated the electroclinical and neuroimaging findings in a population of adult patientswith
ictal epileptic headache.
Methods:We retrospectively examined 8800 EEG recordings of almost 4800 patients admitted to our video-EEG
laboratory from 2010 to 2013 with a history of well-documented epilepsy. We selected patients who reported
headache closely related to a seizure documented by video-EEG or 24-hour ambulatory EEG. We analyzed ictal
electroclinical features of headache, and we defined the related epileptic syndromes.
Results:Weidentified five patientswith ictal epileptic headache. Twopatients described tension headache during an
epileptic seizure. In three patients, the headache was accompanied by other “minor” neurological symptoms mimicking
amigrainous aura. In all cases, the headache stoppedwith the end of the epileptic activity. Three patients had
a history of partial symptomatic epilepsy with cerebral lesions (lowgrade glioma, astrocytoma, porencephalic cyst)
in the left posterior regions, whereas two patients were affected by idiopathic generalized epilepsy.
Conclusion: This study confirms the rarity of ictal epileptic headache. To date, well-documented video-EEG cases remain
as exceptional reports, especially in cases of idiopathic generalized epilepsies. Moreover,we confirm themain
involvement of posterior regions in patientswith ictal epileptic headache affected by partial symptomatic epilepsies
Natural evolution from idiopathic photosensitive occipital lobe epilepsy to idiopathic generalized epilepsy in an untreated young patient
No full textIdiopathic photosensitive occipital lobe epilepsy (IPOE) is an idiopathic localization-related epilepsy characterized by age-related onset, specific mode of precipitation, occipital photic-induced seizures frequently consisting of visual symptoms and good prognosis. This uncommon epilepsy, which usually starts in childhood or adolescence, has rarely been observed in families in which idiopathic generalized epilepsy also affects other members. We describe a nuclear family in which the proband showed electro-clinical features of idiopathic photosensitive occipital lobe epilepsy in childhood, which subsequently evolved into absences and a single generalized tonico-clonic seizure in early adolescence. His mother had features suggestive of juvenile myoclonic epilepsy. This case illustrates a continuum between focal and generalized entities in the spectrum of the so-called idiopathic (genetically determined) epileptic syndromes. (C) 2013 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved
Ambroxol-Induced Focal Epileptic Seizure
No full textIt is well known that in epileptic patients some compounds and different drugs used for the treatment of comorbidities can facilitate or provoke seizures, this evidence regarding a wide spectrum of pharmacological categories. The potential facilitating factors usually include direct toxic effects or pharmacological interactions of either active ingredients or excipients. We report the case of a patient with drug-resistant epilepsy who experienced focal epileptic seizures, easily and constantly reproducible, after each administration of a cough syrup. This is, to our knowledge, the first electroencephalogram-documented case of focal epileptic seizures induced by cough syrup containing ambroxol as active ingredient
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
Epilepsy, unawareness of seizures and driving license: The potential role of 24-hour ambulatory EEG in defining seizure freedom
No full textIntroduction: Seizures represent a potential source of accidents/death. Permission to drive may, therefore, be granted in a seizure-free period. Laws and regulations regarding this issue vary widely, and the onus of reporting seizures ultimately rests on the individual. Unfortunately, as some patients are unaware of their seizures, their reports may be unreliable. Methods: In this retrospective study, we selected, from a group of 1100 consecutive patients, 57 cases (26 males/31 females; mean age: 42.5. years) in whom the AEEG documented ictal events (UIEs) not reported in a self-kept diary. By means of a simple questionnaire, we interviewed all these patients to collect information on driving licenses. We, thus, assessed how many of these patients (both drug resistant and seizure free) drove regularly. Results: Our study shows a relatively large number of patients with epilepsy and UIEs. Fifteen patients suffered from idiopathic generalized epilepsy (IGE) while 42 had partial epilepsy (PE). The patients were seizure free in 21 cases and 36 had drug-resistant seizures. Many patients in both these subgroups had a driving license and drove normally (active driving in 12/36 drug-resistant patients and in 18/21 seizure-free patients). Worthy of note is the finding that an "apparently" seizure-free group of patients drove regularly. Conclusions: This study revealed a large number of patients (both drug resistant and seizure free) with AEEG-documented UIEs. This finding highlights the usefulness of AEEG in clinical practice as a means of more accurately ascertaining seizure freedom and supporting decisions involving the renewal or granting of a driving license. © 2012 Elsevier Inc
Effectiveness of Rufinamide in the Treatment of Idiopathic Generalized Epilepsy With Atypical Evolution: Case Report and Review of the Literature.
No full textVariations 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
Appropriate 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
- …
