518 research outputs found
Comment on: Nonmonotonic Superconducting Order Parameter in NdCeCuO
In a recent letter Blumberg and collaborators claim that a non-monotonic
form for the superconducting order parameter is required to
explain their Raman scattering measurements in NdCeCuO . In
this comment we show with a simple model calculation that the basis for this
conclusion is insufficient. The proposed functional dependence of the gap is
neither consistent with their measured spectra nor compatible with other
experimental results. Therefore the issue of the superconduing gap in
electron-doped systems cannot be considered solved by now.Comment: Comment to the paper by Blumberg et al., Phys. Rev. Lett., 88, 107002
(2002
IDIOPATHIC PARTIAL EPILEPSY WITH AUDITORY FEATURES (IPEAF): A CLINICAL AND GENETIC STUDY OF 53 SPORADIC CASES
The purpose of our study was to describe the clinical characteristics of sporadic
(S) cases of partial epilepsy with auditory features (PEAF) and pinpoint
clinical, prognostic and genetic differences with respect to previously reported
familial (F) cases of autosomal dominant partial epilepsy with auditory features
(ADPEAF). We analysed 53 patients (24 females and 29 males) with PEAF diagnosed
according to the following criteria: partial epilepsy with auditory symptoms,
negative family history for epilepsy and absence of cerebral lesions on NMR
study. All patients underwent a full clinical, neuroradiological and
neurophysiological examination. Forty patients were screened for mutations in
LGI1/epitempin, which is involved in ADPEAF. Age at onset ranged from 6 to 39
years (average 19 years). Secondarily generalized seizures were the most common
type of seizures at onset (79%). Auditory auras occurred either in isolation
(53%) or associated with visual, psychic or aphasic symptoms. Low seizure
frequency at onset and good drug responsiveness were common, with 51% of patients
seizure-free. Seizures tended to recur after drug withdrawal. Clinically, no
major differences were found between S and F patients with respect to age at
onset, seizure frequency and response to therapy. Analysis of LGI1/epitempin
exons failed to disclose mutations. Our data support the existence of a peculiar
form of non-lesional temporal lobe epilepsy closely related to ADPEAF but without
a positive family history. This syndrome, here named IPEAF, has a benign course
in the majority of patients and could be diagnosed by the presence of auditory
aura. Although LGI1 mutations have been excluded, genetic factors may play an
aetiopathogenetic role in at least some of these S cases
Human Computation and Convergence
Humans are the most effective integrators and producers of information,
directly and through the use of information-processing inventions. As these
inventions become increasingly sophisticated, the substantive role of humans in
processing information will tend toward capabilities that derive from our most
complex cognitive processes, e.g., abstraction, creativity, and applied world
knowledge. Through the advancement of human computation - methods that leverage
the respective strengths of humans and machines in distributed
information-processing systems - formerly discrete processes will combine
synergistically into increasingly integrated and complex information processing
systems. These new, collective systems will exhibit an unprecedented degree of
predictive accuracy in modeling physical and techno-social processes, and may
ultimately coalesce into a single unified predictive organism, with the
capacity to address societies most wicked problems and achieve planetary
homeostasis.Comment: Pre-publication draft of chapter. 24 pages, 3 figures; added
references to page 1 and 3, and corrected typ
Whole-brain histogram and voxel-based analyses of apparent diffusion coefficient and magnetization transfer ratio in celiac disease, epilepsy, and cerebral calcifications syndrome
BACKGROUND AND PURPOSE: Diffusion and magnetization transfer (MT) techniques have been applied to the investigation with MR of epilepsy and have revealed changes in patients with or without abnormalities on MR imaging. We hypothesized that also in the coeliac disease (CD), epilepsy and cerebral calcifications (CEC) syndrome diffusion and MT techniques could reveal brain abnormalities undetected by MR imaging and tentatively correlated to epilepsy.
MATERIALS AND METHODS: Diffusion and MT weighted images were obtained in 10 patients with CEC, 8 patients with CD without epilepsy and 17 healthy volunteers. The whole brain apparent diffusion coefficient (ADC) and MT ratio (MTR) maps were analyzed with histograms and the Statistical Parametric Mapping 2 (SPM2) software. We employed the non-parametric Mann-Whitney U test to assess differences for ADC and MTR histogram metrics. Voxel by voxel comparison of the ADC and MTR maps was performed with 2 tails t-test corrected for multiple comparison.
RESULTS: A significantly higher whole brain ADC value as compared to healthy controls was observed in CEC (P = 0.006) and CD (P = 0.01) patients. SPM2 showed bilateral areas of significantly decreased MTR in the parietal and temporal subcortical white matter (WM) in the CEC patients.
CONCLUSION: Our study indicates that diffusion and MT techniques are also capable of revealing abnormalities undetected by MR imaging. In particular patients with CEC syndrome show an increase of the whole brain ADC histogram which is more pronounced than in patients with gluten intolerance. IN CEC patients, voxel-based analysis demonstrates a localized decrease of the MTR in the parieto-temporal subcortical WM
Exploring the interactions of a “rule-breaker” iodo-platinum(II) complex with cytochrome c by mass spectrometry
Clinical practice guidelines on the management of status epilepticus in adults: A systematic review
Objective: Status epilepticus (SE) is the second most common neurological emergency in adults. Despite improvements in the management of acute neurological conditions over the last decade, mortality is still durably high. Because a gap has emerged between SE management based on clinical practice guidelines (CPGs) and actual clinical practice, we conducted a systematic review of CPGs, assessing their quality, outlining commonalities and discrepancies in recommendations, and highlighting research gaps. Methods: We searched the PubMed and EMBASE databases and other gray literature sources (nine among guideline registries, evidence-based medicine databases, point-of-care tools; seven websites of governmental organizations and international neurologic societies) in December 2021 (updated in November 2023). The units of analysis were CPGs that included recommendations on the diagnostic and/or therapeutic management of SE in adults. The quality of the CPGs was assessed using the AGREE II tool. Results: Fifteen CPGs were included. The “Applicability” domain was assigned the lowest median score of 10%. The domains “Stakeholder Involvement”, “Rigor of Development,” and “Editorial Independence” were as well generally underrated. Recommendations on general and diagnostic management and on organizational interventions were fragmented and scattered. Recommendations on pre-hospital and hospital treatment of early-onset and refractory SE were broadly agreed, whereas there was less agreement on the treatment model and medications for established SE and super-refractory SE. Significance: The CPGs for the management of SE developed in recent years are flawed by several methodological issues and discrepancies in the coverage of important topics. The gap between CPG-based management of SE and actual clinical practice may be due in part to the inherent limitations of the CPGs produced so far
MicroRNA profiles in hippocampal granule cells and plasma of rats with pilocarpine-induced epilepsy - Comparison with human epileptic samples
The identification of biomarkers of the transformation of normal to epileptic tissue would help to
stratify patients at risk of epilepsy following brain injury, and inform new treatment strategies.
MicroRNAs (miRNAs) are an attractive option in this direction. In this study, miRNA microarrays were
performed on laser-microdissected hippocampal granule cell layer (GCL) and on plasma, at different
time points in the development of pilocarpine-induced epilepsy in the rat: latency, first spontaneous
seizure and chronic epileptic phase. Sixty-three miRNAs were differentially expressed in the GCL
when considering all time points. Three main clusters were identified that separated the control and
chronic phase groups from the latency group and from the first spontaneous seizure group. MiRNAs
from rats in the chronic phase were compared to those obtained from the laser-microdissected GCL
of epileptic patients, identifying several miRNAs (miR-21-5p, miR-23a-5p, miR-146a-5p and miR-
181c-5p) that were up-regulated in both human and rat epileptic tissue. Analysis of plasma samples
revealed different levels between control and pilocarpine-treated animals for 27 miRNAs. Two main
clusters were identified that segregated controls from all other groups. Those miRNAs that are
altered in plasma before the first spontaneous seizure, like miR-9a-3p, may be proposed as putative
biomarkers of epileptogenesis
Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities.
Epilepsia. 2007 Sep;48(9):1678-85. Epub 2007 Jun 11.
Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities.
Marini C, Mei D, Temudo T, Ferrari AR, Buti D, Dravet C, Dias AI, Moreira A, Calado E, Seri S, Neville B, Narbona J, Reid E, Michelucci R, Sicca F, Cross HJ, Guerrini R.
SourceEpilepsy, Neurophysiology and Neurogenetic Unit, Institute of Child Neurology and Psychiatry, IRCCS Stella Maris Foundation, Calambrone, Pisa, Italy.
Abstract
PURPOSE: SCN1A is the most clinically relevant epilepsy gene, most mutations lead to severe myoclonic epilepsy of infancy (SMEI) and generalized epilepsy with febrile seizures plus (GEFS+). We studied 132 patients with epilepsy syndromes with seizures precipitated by fever, and performed phenotype-genotype correlations with SCN1A alterations.
METHODS: We included patients with SMEI including borderline SMEI (SMEB), GEFS+, febrile seizures (FS), or other seizure types precipitated by fever. We performed a clinical and genetic study focusing on SCN1A, using dHPLC, gene sequencing, and MLPA to detect genomic deletions/duplications on SMEI/SMEB patients.
RESULTS: We classified patients as: SMEI/SMEB = 55; GEFS+= 26; and other phenotypes = 51. SCN1A analysis by dHPLC/sequencing revealed 40 mutations in 37 SMEI/SMEB (67%) and 3 GEFS+ (11.5%) probands. MLPA showed genomic deletions in 2 of 18 SMEI/SMEB. Most mutations were de novo (82%). SMEB patients carrying mutations (8) were more likely to have missense mutations (62.5%), conversely SMEI patients (31) had more truncating, splice site or genomic alterations (64.5%). SMEI/SMEB with truncating, splice site or genomic alterations had a significantly earlier age of onset of FS compared to those with missense mutations and without mutations (p = 0.00007, ANOVA test). None of the remaining patients with seizures precipitated by fever carried SCN1A mutations.
CONCLUSION: We obtained a frequency of 71%SCN1A abnormalities in SMEI/SMEB and of 11.5% in GEFS+ probands. MLPA complements DNA sequencing of SCN1A increasing the mutation detection rate. SMEI/SMEB with truncating, splice site or genomic alterations had a significantly earlier age of onset of FS. This study confirms the high sensitivity of SCN1A for SMEI/SMEB phenotypes
A New MEN2 Syndrome with Clinical Features of Both MEN2A and MEN2B Associated with a New RET Germline Deletion
Background. Multiple endocrine neoplasia type 2 (MEN2) is a hereditary cancer syndrome caused by RET proto-oncogene mutation. Two different clinical variants of MEN2 are known (MEN2A and MEN2B): medullary thyroid carcinoma (MTC) almost always present and associated with pheochromocytoma (Pheo), and primary hyperparathyroidism (HPTH) in MEN2A and with Pheo and other nonendocrine diseases in MEN2B. Case Report. A 7-year-old girl, previously treated for a pelvic plexiform neurofibroma, arrived at our observation with a peculiar MEN2B syndrome and with HPTH. The neck ultrasound showed bilateral thyroid nodules, local lymph node lesions, and a suspicious left hyperplastic parathyroid. The CT scan showed a megacolon and described the persistence of the pelvic tumor. A new RET germline deletion in exon 11 (c.1892_1899delCGAGCT; p.Glu632_Leu633del) was found. She underwent total thyroidectomy, central compartment and latero-cervical lymph node dissection, and neck exploration for primary HPTH. The histology confirmed bilateral MTC, multiple lymph node metastases, a hyperplastic parathyroid, and a parathyroid adenoma. Conclusions. This is the first case of a complex syndrome characterized by peculiar features of MEN2B, without Pheo but with a pelvic plexiform neurofibroma and with HPTH, which is typical of MEN2A. A "de novo"new germline RET deletion located in exon 11 was found
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