Clinical and electroencephalographic abnormalities during the full duration of a sporadic hemiplegic migraine attack

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Leucoencephalopathy following abuse of sniffed heroin

International audienceA 29-year-old man was admitted for acute cognitive impairment. Three weeks earlier, he had been admitted for coma due to sniffed heroin abuse responsive to naloxone infusion. At admission, the patient presented with apraxia, severe memory impairment and anosognosia. Brain MRI revealed symmetric hyperintensities of supratentorial white matter, sparing brainstem and cerebellum, on FLAIR and B1000 sequences. Four months later, repeated neuropsychological assessment revealed dramatic improvement of global cognitive functions. Toxic leucoencephalopathy excluding the cerebellum and brainstem is a rare complication of heroin abuse, and seems to concern especially patients that use heroin by sniff or injection. In these patients, cognitive troubles are predominant, prognosis seems better and infratentorial brain structures can be spared. In conclusion, our observation emphasizes that heroin-induced encephalopathy can have a favourable outcome and that imaging and clinical patterns can indicate the mode of drug administration

Migraine aura lasting 1-24 h in children: a sequence of EEG slow-wave abnormalities vs. vascular events.

International audienceThe aim of this study was to describe the abnormalities associated with migraine aura lasting 1-24 h in children as shown by EEG, trancranial Doppler (TCD) and single photon emission computed tomography (SPECT). In this retrospective study, 11 patients each underwent EEG, TCD and brain SPECT on the day of admission and the day thereafter. On the day of admission, the migrainous hemisphere of all patients showed that the mean velocities were decreased in the middle cerebral artery by TCD, slow-wave abnormalities were recorded after several hours of aura by EEG and the SPECT showed hypoperfusion. On the day after, in the same hemisphere, slow waves were recorded only in the occipital area by EEG, and SPECT showed slight hyperperfusion. In these patients, there was a clear sequence of EEG, TCD and SPECT abnormalities

EPNS/SFNP guideline on the anticoagulant treatment of cerebral sinovenous thrombosis in children and neonates

Anticoagulation of cerebral sinovenous thrombosis (CSVT) is recommended in adults and has been also approved in the paediatric setting. Some controversies remain however between the existing paediatric professional consensus, notably about its use in children with intra-cranial haemorrhage and in neonates. The publication of further original studies prompted the French Society for Paediatric Neurology (SFNP) in association with a panel of EPNS experts, to update the level of evidence and the knowledge in this domain. A bibliographic analysis revealed that anticoagulants are widely used in paediatrics. Anticoagulation is well tolerated by children (Class I, level of evidence B) and also probably by neonates (Class IIa, level of evidence B). During the acute phase, anticoagulation is probably effective in reducing the risk of death and sequelae in children (Class IIa, level of evidence B). It is not yet possible to draw any conclusions regarding neonates (Class IIb). Anticoagulation is also effective in reducing the risk of recurrence (Class I, level of evidence B). This risk is dependent on several individual factors such as the age of the child, the cause of the thrombosis, the persistence or the recurrence of thrombogenic factors, and the speed of sinus recanalisation. The duration of anticoagulation needs therefore to be individually tailored (Class I, level of evidence B). These observations have led to the following recommendations: -In the absence of any contraindication, it is reasonable to initiate anticoagulation during the acute phase of CSVT in children. Prolonged treatment over 3-6 months is justified according to individual factors. -In the absence of any contraindication, anticoagulation may be considered individually during the acute phase of CSVT in neonates for a duration of 6-12 weeks

Surgical technique

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Workshop on drilling the Nicaraguan lakes: bridging continents and oceans (NICA-BRIDGE)

An international, multidisciplinary research group is proposing the “NICA-BRIDGE” drilling project, within the framework of the International Continental Scientific Drilling Program (ICDP). The project goal is to conduct scientific drilling in Lake Nicaragua and Lake Managua (Nicaragua, Central America) to obtain long lacustrine sediment records to (a) extend the neotropical paleoclimate record back to the Pliocene, making it one of the longest continental tropical climate archives in the world, and to (b) provide geological data on the long-term complex interplay among tectonics, volcanism, sea-level dynamics, climate change, and biosphere. The lakes are the two largest in Central America, and they are located in a trench-parallel half graben that hosts the volcanic front, which developed during or prior to the Pliocene, as a consequence of subduction-related tectonic activity. The lakes are uniquely suited for multidisciplinary scientific investigation as their long, con- tinuous sediment records (several Myr) will facilitate the study of (1) terrestrial and marine basin development at the southern Central American margin, (2) alternating lacustrine and marine environments in response to tec- tonic and climatic changes, (3) the longest record of tropical climate proxies, (4) the evolution of (and transition between) the Miocene to Pliocene/Pleistocene and Pleistocene to present volcanic arcs, which were separated by slab rollback, (5) the significance of the lakes as hot spots for endemism, and (6) the Great American Biotic Interchange at this strategic location, i.e., the N–S and reverse migration of fauna after the land bridge between the Americas was established. The planned ICDP project offers an opportunity to explore these topics through continent-based seismolog- ical, volcanological, paleoclimatological, paleoecological, and paleoenvironmental studies, combined with an International Ocean Discovery Program (IODP) drill project to explore its oceanic continuation. In preparation of this drilling project, an ICDP workshop was held in Montelimar, Nicaragua, on 2–5 March 2020 to develop drilling strategies and refine scientific questions, objectives, and hypotheses. The workshop was organized and hosted by the principal investigators and the Instituto Nicaragüense de Estudios Territoriales (INETER), with funding from the ICDP. Forty-five researchers from 12 countries participated in the workshop, including representatives from ICDP. During the workshop, previous research data on the study lakes, including new recent surveys, were reviewed, and a three-phase strategy for the proposed research was developed. The aim of Phase 0 is to complement the pre-site surveys where we identified the need for further data. In Phase I, with ICDP support, we will obtain sediment cores ∼ 100 m long, which will allow us to investigate many of the scientific questions. Based on the data from those drill cores, coring locations will be identified for a future Phase II, which we envisage as a combined ICDP/IODP project to collect deep drill cores in the lakes and the offshore Sandino Basin in order to extend Phase I results to much deeper time. The Sandino Basin is the oceanic continuation of the depression in which the studied lakes are located, and complementary marine drilling will improve the understanding of the evolution of this complex margin

Next-Generation Molecular Investigations in Lysosomal Diseases: Clinical Integration of a Comprehensive Targeted Panel

Diagnosis of lysosomal disorders (LDs) may be hampered by their clinical heterogeneity, phenotypic overlap, and variable age at onset. Conventional biological diagnostic procedures are based on a series of sequential investigations and require multiple sampling. Early diagnosis may allow for timely treatment and prevent clinical complications. In order to improve LDs diagnosis, we developed a capture-based next generation sequencing (NGS) panel allowing the detection of single nucleotide variants (SNVs), small insertions and deletions, and copy number variants (CNVs) in 51 genes related to LDs. The design of the LD panel covered at least coding regions, promoter region, and flanking intronic sequences for 51 genes. The validation of this panel consisted in testing 21 well-characterized samples and evaluating analytical and diagnostic performance metrics. Bioinformatics pipelines have been validated for SNVs, indels and CNVs. The clinical output of this panel was tested in five novel cases. This capture-based NGS panel provides an average coverage depth of 474× which allows the detection of SNVs and CNVs in one comprehensive assay. All the targeted regions were covered above the minimum required depth of 30×. To illustrate the clinical utility, five novel cases have been sequenced using this panel and the identified variants have been confirmed using Sanger sequencing or quantitative multiplex PCR of short fluorescent fragments (QMPSF). The application of NGS as first-line approach to analyze suspected LD cases may speed up the identification of alterations in LD-associated genes. NGS approaches combined with bioinformatics analyses, are a useful and cost-effective tool for identifying the causative variations in LDs