Clinical pathways of epileptic seizures and status epilepticus: results from a survey in Italy
SummaryObjectivePatients with seizures or status epilepticus (SE) access the hospital through emergency departments and may be admitted into different wards according to the level of care required. Clinicians with different expertise are in charge of taking critical therapeutic decisions. To date, very few studies have investigated the stage at which these patients are referred to neurologists or epileptologists and how guideline recommendations are applied in clinical practice.MethodsA survey was used to investigate how patients with epileptic seizures or SE are managed in emergency and in subsequent hospital pathways in Italy.ResultsOne hundred and seventy-seven physicians (mainly neurologists) from all parts of Italy filled in a questionnaire. Less than half of the participants (35%) answered that, in their hospital, patients with epilepsy were managed by epileptologists. The percentages were lower for patients presenting with acute seizures (21%) or SE (16%). Diagnostic, therapeutic, and assistance pathways (PDTA) for patients presenting with seizure(s) or SE were available for both conditions in about 50% of cases, while, in the rest of the hospitals, participants indicated informal agreements (about 25% of cases) or lack of any agreement (about 25% of cases) between clinicians. Professionals more often involved in PDTA were epileptologists/neurologists, emergency physicians, and intensivists. More than half ot the participants (55%) thought that organizational issues ar...
Publication date: Available online 25 February 2020Source: Biocybernetics and Biomedical EngineeringAuthor(s): S. Thomas George, M.S.P. Subathra, N.J. Sairamya, L. Susmitha, M. Joel Premkumar
Publication date: Available online 25 February 2020Source: Journal of Clinical NeuroscienceAuthor(s): Osmi Hamamoto, Daniela Pretti da Cunha Tirapelli, Fermino Sanches Lizarte Neto, Priscila Freitas-Lima, Fabiano Pinto Saggioro, Mucio Luiz de Assis Cirino, João Alberto Assirati Jr, Luciano Neder Serafini, Tonicarlo Rodrigues Velasco, Américo Ceiki Sakamoto, Carlos Gilberto Carlotti Jr
Publication date: Available online 25 February 2020Source: European Journal of RadiologyAuthor(s): Keran Ma, Xiaonan Zhang, Huiting Zhang, Xu Yan, Ankang Gao, Chengru Song, Shaoyu Wang, Yajun Lian, Jingliang Cheng
In conclusion, our data expand both geneticand phenotypic spectrum associated with PURA gene mutations. PMID: 32089526 [PubMed - in process]
Conclusion: CAED with impaired language function had significantly increased functional connectivity which may indicate poor differentiation and localization of language centers.
Conclusions: This study highlights the high prevalence of developmental delay in this population of children with WS, with adverse perinatal events being the most common etiology.
Conclusion: PCDH19 is a major causative gene in patients with epilepsy and further data is required to gain a better understanding of phenotype-genotype correlation. In addition to gene sequencing, deletion/duplication analysis will improve the molecular diagnosis in patients with clinical findings.
Shivan Kesavan, Bhanudeep Singanamalla, Dangudubiyyam Sri Krishna Sahitya, Arushi Gahlot Saini, Sameer VyasAnnals of Indian Academy of Neurology 2020 23(2):239-241
In conclusion, our study offered the evidence of intronic pentanucleotide expansions in SAMD12 from a new Chinese BAFME pedigree, which further confirmed the association between this expansion and the pathogenesis of BAFME.