Cerebral venous thrombosis due to essential thrombocythemia and worsened by heparin-induced thrombocytopenia and thrombosis.

This case describes the medical history of a 61-year-old woman treated for cerebral venous thrombosis (CVT) leading to diagnosis of essential thrombocythemia (ET). During treatment with unfractionated heparin, after initial improvement of clinical state, signs of cerebral hypertension reappeared. Although the platelet count decreased, heparin-induced thrombocytopenia (HIT) was only suspected 2 days later when it dropped below the standard 150 × 10(9) L(-1) threshold. HIT diagnosis was confirmed by the presence of anti-PF4/heparin IgG. This late finding was the cause of the extension of CVT with worsening of cerebral hypertension necessitating decompressive craniectomy. Elevated basal platelet count due to ET can delay diagnosis and treatment of HIT. In this case, physicians should be more attentive to platelet count variations rather than thrombocytopenia threshold.

Identifying patients with cerebral infarction within the time window compatible with reperfusion therapy, diagnostic performance of glutathione S-transferase-π (GST-π) and peroxiredoxin 1 (PRDX1): exploratory prospective multicentre study FLAG-1 protocol.

INTRODUCTION: Plasma biomarkers may be useful in diagnosing acute cerebral infarction requiring urgent reperfusion, but their performance remains to be confirmed. If confirmed, these molecules could be used to develop rapid and reliable decentralised measurement methods, making it possible to initiate reperfusion therapy before hospital admission. The FLAG-1 large prospective study will constitute a plasma bank to assess the diagnostic performance of two biomarkers: glutathione S-transferase-π and peroxiredoxin 1. These molecules are involved in the oxidative stress response and could identify cerebral infarction within a therapeutic window of less than 4.5 hours following the onset of symptoms. Secondary objectives include assessing performance of these biomarkers within 3-hour and 6-hour windows; identifying additional biomarkers diagnosing cerebral infarction and significant criteria guiding therapeutic decisions: ischaemic features of stroke, presence of diffusion/fluid-attenuated inversion recovery mismatch, volume of cerebral infarction and penumbra on cerebral MRI. METHODS AND ANALYSIS: The exploratory, prospective, multicentre FLAG-1 Study will include 945 patients with acute stroke symptoms (onset ≤12 hours, National Institute of Health Stroke Scale score ≥3). Each patient's 25 mL blood sample will be associated with cerebral MRI data. Two patient groups will be defined based on the time of blood collection (before and after 4.5 hours following onset). Receiver operating characteristic analysis will determine the diagnostic performance of each biomarker, alone or in combination, for the identification of cerebral infarction <4.5 hours. ETHICS AND DISSEMINATION: The protocol has been approved by an independent ethics committee. Biological samples are retained in line with best practices and procedures, in accordance with French legislation. Anonymised data and cerebral imaging records are stored using electronic case report forms and a secure server, respectively, registered with the French Data Protection Authority (Commission Nationale de l'Informatique et des Libertés (CNIL)). Results will be disseminated through scientific meetings and publication in peer-reviewed medical journals. TRIAL REGISTRATION NUMBER: ClinicalTrials.gov Registry (NCT03364296).

Hereditary spastic paraplegia due to a novel mutation of the REEP1 gene: Case report and literature review.

RATIONALE: Hereditary spastic paraplegia (HSP) is a heterogeneous group of diseases little known in clinical practice due to its low prevalence, slow progression, and difficult diagnosis. This results in an underestimation of HSP leading to belated diagnosis and management. In depth diagnosis is based on clinical presentation and identification of genomic mutations. We describe the clinical presentation and pathogeny of HSP through a report of a case due to a novel mutation of the REEP1 gene (SPG31). PATIENT CONCERNS: A 64-year-old woman presented gait disturbances due to spasticity of the lower limbs progressing since her third decade. Previous investigations failed to find any cause. INTERVENTIONS: DNA analysis was performed to search for HSP causing mutations. DIAGNOSES: A novel heterozygote mutation (c.595 + 1G>A) of the REEP1 gene, within the splice site of intron 6, was discovered. This nucleotide change causes exon 6 skipping leading to frame shift and a truncated transcript identified by complementary DNA sequencing of reverse transcription polymerase chain reaction products. OUTCOMES: REEP1 is a known protein predominantly located in the upper motor neurons. Mutation of REEP1 primary affects the longest axons explaining predominance of pyramidal syndrome on lower limbs. LESSONS: Slow progressive pyramidal syndrome of the lower limbs should elicit a diagnosis of HSP. We describe a novel mutation of the REEP1 gene causing HSP. Pathogeny is based on resulting abnormal REEP1 protein which is involved in the development of longest axons constituting the corticospinal tracts.

Implementation and Evaluation of an Economic Model for Telestroke: Experience from Virtuall, France.

BACKGROUND: Telestroke is recognized as a safe and time-efficient way of treating stroke patients. However, admission centers (spokes) are subject to financial charges which can make them reluctant to join the system. We implemented and assessed an economic model supporting our telestroke system, Virtuall, France, which includes one expert center (hub) and six spokes. METHODS: The model is based on payment for the expertise provided by the hub, distribution of charges related to telemedicine according to the fees perceived by the spokes, and transfer of patients between the spokes and the hub. We performed a cost-benefit analysis for all patients included in Virtuall from January 2014 to December 2015 to assess the economic balance in each center. RESULTS: 321 patients were prospectively included in the study. Application of the economic model resulted in overall financial balance with funding of a dedicated medical service in the hub, and reduced costs directly related to telestroke by an average of 10% in the spokes. The conditions generating the highest costs for the spokes were: a patient returning from the hub for re-hospitalization (mean cost of $1,995/patient); management of patients treated by intravenous thrombolysis without transfer to the hub (mean cost of $2,075/patient). The most favorable financial condition for the spokes remained simple transfer of patients to the hub and no return (mean cost of $329/patient). CONCLUSION: We describe an economic model which can be applied to any telestroke system to ensure the optimal balance between hub and spoke centers.