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  1. Article ; Online: Plasma Biomarker Profile and Clinical Correlations in Adult Patients With Tuberous Sclerosis Complex.

    Orlando, Biagio / Morano, Alessandra / Manzini, Valeria / Cerulli Irelli, Emanuele / Borioni, Maria S / Veroni, Caterina / Salamone, Enrico Michele / D'Amelio, Chiara / Moliterni, Elisa / Giustini, Sandra / Ruffolo, Gabriele / Arisi, Ivan / D'Onofrio, Mara / Giallonardo, Anna T / Piscopo, Paola / Di Bonaventura, Carlo

    Neurology

    2023  Volume 101, Issue 19, Page(s) e1933–e1938

    Abstract: Objectives: Different pathophysiologic mechanisms, especially involving astrocytes, could contribute to tuberous sclerosis complex (TSC). We assessed neurodegeneration and astrocytopathy plasma biomarkers in adult patients with TSC to define TSC ... ...

    Abstract Objectives: Different pathophysiologic mechanisms, especially involving astrocytes, could contribute to tuberous sclerosis complex (TSC). We assessed neurodegeneration and astrocytopathy plasma biomarkers in adult patients with TSC to define TSC biomarker profile and investigate clinical-radiologic correlations.
    Methods: Patients with TSC aged 15 years or older followed at Policlinico "Umberto I" of Rome were consecutively enrolled (July 2021-June 2022). The plasma levels of the following biomarkers were compared between patients and age/sex-matched healthy controls (HCs): tTau, pTau181, Abeta
    Results: Thirty-one patients (20 females/11 males; median age 30 years, interquartile range 24-47) and 38 HCs were enrolled. Only GFAP was significantly higher in the whole TSC population than in HCs (132.71 [86.14-231.06] vs 44.80 [32.87-66.76] pg/mL,
    Discussion: Our exploratory study documented a significant increase of GFAP plasma concentration in adult patients with TSC, correlated with their neurologic severity, supporting the central role of astrocytopathy in TSC pathophysiology.
    MeSH term(s) Male ; Female ; Humans ; Adult ; Autism Spectrum Disorder/genetics ; Tuberous Sclerosis/genetics ; Biomarkers ; Astrocytes ; Genotype ; Glial Fibrillary Acidic Protein/genetics
    Chemical Substances Biomarkers ; Glial Fibrillary Acidic Protein
    Language English
    Publishing date 2023-08-31
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 207147-2
    ISSN 1526-632X ; 0028-3878
    ISSN (online) 1526-632X
    ISSN 0028-3878
    DOI 10.1212/WNL.0000000000207799
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article: Generalized Fast Discharges Along the Genetic Generalized Epilepsy Spectrum: Clinical and Prognostic Significance.

    Cerulli Irelli, Emanuele / Barone, Francesca Antonietta / Mari, Luisa / Morano, Alessandra / Orlando, Biagio / Salamone, Enrico Michele / Marchi, Angela / Fanella, Martina / Fattouch, Jinane / Placidi, Fabio / Giallonardo, Anna Teresa / Izzi, Francesca / Di Bonaventura, Carlo

    Frontiers in neurology

    2022  Volume 13, Page(s) 844674

    Abstract: Objective: To investigate the electroclinical characteristics and the prognostic impact of generalized fast discharges in a large cohort of genetic generalized epilepsy (GGE) patients studied with 24-h prolonged ambulatory electroencephalography (paEEG). ...

    Abstract Objective: To investigate the electroclinical characteristics and the prognostic impact of generalized fast discharges in a large cohort of genetic generalized epilepsy (GGE) patients studied with 24-h prolonged ambulatory electroencephalography (paEEG).
    Methods: This retrospective multicenter cohort study included 202 GGE patients. The occurrence of generalized paroxysmal fast activity (GPFA) and generalized polyspike train (GPT) was reviewed. GGE patients were classified as having idiopathic generalized epilepsy (IGE) or another GGE syndrome (namely perioral myoclonia with absences, eyelid myoclonia with absences, epilepsy with myoclonic absences, generalized epilepsy with febrile seizures plus, or GGE without a specific epilepsy syndrome) according to recent classification proposals.
    Results: GPFA/GPT was found in overall 25 (12.4%) patients, though it was significantly less frequent in IGE compared with other GGE syndromes (9.3 vs. 25%,
    Conclusion: We found that generalized fast discharges were more common than expected in GGE patients when considering the entire GGE spectrum. In addition, our study highlighted that GPFA/GPT could be found along the entire GGE continuum, though their occurrence was more common in less benign GGE syndromes. Finally, we confirmed that GPFA/GPT was associated with difficult-to-treat GGE, as evidenced by the multivariable analysis and the higher ASM load during history.
    Language English
    Publishing date 2022-03-10
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2564214-5
    ISSN 1664-2295
    ISSN 1664-2295
    DOI 10.3389/fneur.2022.844674
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article: Late-onset seizures and epilepsy: Electroclinical features suggestive of autoimmune etiology.

    Morano, Alessandra / Cerulli Irelli, Emanuele / Salamone, Enrico Michele / Orlando, Biagio / Fanella, Martina / Tinelli, Emanuele / Ruffolo, Gabriele / Zuliani, Luigi / Fattouch, Jinane / Manfredi, Mario / Giallonardo, Anna Teresa / Di Bonaventura, Carlo

    Frontiers in neurology

    2022  Volume 13, Page(s) 924859

    Abstract: Introduction: Late-onset epilepsy (LOE) has recently become a topic of intense research. Besides stroke, tumors, and dementia, autoimmune encephalitis (AE) has emerged as another possible cause of recurrent seizures in the elderly, and may account for a ...

    Abstract Introduction: Late-onset epilepsy (LOE) has recently become a topic of intense research. Besides stroke, tumors, and dementia, autoimmune encephalitis (AE) has emerged as another possible cause of recurrent seizures in the elderly, and may account for a proportion of cases of LOE of unknown origin (LOEUO). This 24-h ambulatory electroencephalography (AEEG)-based study compared patients with LOEUO and AE to identify features suggestive of immune-mediated seizures in the elderly.
    Materials and methods: We retrospectively reviewed 232 AEEG examinations performed in patients over 55 years with ≥6-month follow-up, and selected 21 subjects with AE and 25 subjects with LOEUO. Clinical charts and AEEG recordings were carefully analyzed.
    Results: Twenty-five patients with LOEUO (12 women, mean age at onset 67.9 years) and 21 AE subjects (8 women, mean age at onset 65.7 years) were enrolled. High-frequency seizures were reported in 20/21 AE and 7/25 LOEUO cases (
    Conclusion: Our study shows that high-frequency focal seizures with autonomic manifestations should raise the suspicion of AE in the elderly with new-onset seizures. It also highlights the relevant contribution of AEEG, which might reduce the diagnostic delay and provide useful clues to recognize AE.
    Language English
    Publishing date 2022-08-12
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2564214-5
    ISSN 1664-2295
    ISSN 1664-2295
    DOI 10.3389/fneur.2022.924859
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  4. Article ; Online: Olfactory impairment in autoimmune encephalitis: another piece of the puzzle.

    Morano, Alessandra / Cerulli Irelli, Emanuele / Fanella, Martina / Orlando, Biagio / Salamone, Enrico Michele / Tinelli, Emanuele / Ruffolo, Gabriele / Zuliani, Luigi / Fattouch, Jinane / Manfredi, Mario / Giallonardo, Anna Teresa / Di Bonaventura, Carlo

    Journal of neurology

    2022  Volume 269, Issue 5, Page(s) 2762–2768

    Abstract: Background: Despite being long neglected, olfaction has recently become a focus of intense research in neuroscience, as smell impairment has been consistently documented in both neurodegenerative and neuroinflammatory diseases. Considering the close ... ...

    Abstract Background: Despite being long neglected, olfaction has recently become a focus of intense research in neuroscience, as smell impairment has been consistently documented in both neurodegenerative and neuroinflammatory diseases. Considering the close anatomo-functional correlations between the limbic system and the central olfactory structures, we investigated olfaction in a population of patients with autoimmune encephalitis (AE).
    Methods: Nineteen adult subjects (14 males, median age 64 years) diagnosed with definite (14/19) or possible (5/19) AE and followed for ≥ 6 months were enrolled. The Brief Smell Identification Test (B-SIT), a 12-item, forced-choice, scratch-and-sniff measure, was used to assess the patients' olfactory function in comparison with a group of sex- and age-matched healthy controls (HC). According to the B-SIT score, subjects were classified as anosmic (< 6), hyposmic (6-8) and normal (≥ 9). Electro-clinical, laboratory and neuroimaging findings were reviewed.
    Results: Smell impairment was revealed in 15/19 patients (9 hyposmic, 6 anosmic), compared with 5/19 HC (p = 0.0029). Age, gender and smoking habits did not affect the participants' performance at B-SIT. Olfactory dysfunction appeared more common among patients with definite AE (p = 0.0374), regardless of autoantibody status. Subjects with higher modified Rankin Scale (mRS) scores at AE onset more likely presented hyposmia/anosmia (p = 0.033), and so did those with bilateral ictal/interictal EEG abnormalities (p = 0.006).
    Conclusions: We found olfaction to be impaired in a significantly large proportion of AE cases. Smell deficits appeared more common in subjects with severe AE (as indicated by both definite diagnosis and higher mRS score), and might represent an additional feature of immune-mediated encephalitis.
    MeSH term(s) Adult ; Encephalitis/complications ; Encephalitis/diagnostic imaging ; Female ; Hashimoto Disease/complications ; Humans ; Male ; Middle Aged ; Olfaction Disorders/diagnosis ; Smell
    Language English
    Publishing date 2022-01-10
    Publishing country Germany
    Document type Journal Article
    ZDB-ID 187050-6
    ISSN 1432-1459 ; 0340-5354 ; 0012-1037 ; 0939-1517 ; 1619-800X
    ISSN (online) 1432-1459
    ISSN 0340-5354 ; 0012-1037 ; 0939-1517 ; 1619-800X
    DOI 10.1007/s00415-022-10959-6
    Database MEDical Literature Analysis and Retrieval System OnLINE

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