Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes.

Identifying genetic risk factors for highly heterogeneous disorders like epilepsy remains challenging. Here, we present the largest whole-exome sequencing study of epilepsy to date, with >54,000 human exomes, comprising 20,979 deeply phenotyped patients from multiple genetic ancestry groups with diverse epilepsy subtypes and 33,444 controls, to investigate rare variants that confer disease risk. These analyses implicate seven individual genes, three gene sets, and four copy number variants at exome-wide significance.

Impact of preoperative brachytherapy followed by radical hysterectomy in stage IB2 (FIGO 2018) cervical cancer: An analysis of SENTICOL I-II trials.

Introduction: The goal of this study was to compare the outcomes of preoperative brachytherapy followed by radical surgery versus radical surgery alone in cervical cancer with tumor between 2 and 4 cm (FIGO 2018 IB2).

Material And Methods: SENTICOL I and SENTICOL II were two French prospective multicentric trials evaluating sentinel node biopsy in early-stage cervical cancer between 2005 and 2012. Preoperative brachytherapy (low-dose rate or pulse-dose rate at the dose of 60Gy) could be performed 6 to 8 weeks prior to the radical hysterectomy, at the discretion of each center.

Coffee consumption and seizure frequency in patients with drug-resistant focal epilepsy.

Objective: To assess the relation between coffee consumption and seizure frequency in patients with drug-resistant focal epilepsy.

Methods: Cross-sectional analysis of data collected in the SAVE study, which included patients with drug-resistant focal epilepsy during long-term EEG monitoring. Patients in whom both coffee consumption and data about seizure frequency, including focal to bilateral tonic-clonic seizures (FBTCS), were available were selected.

Can Conization Specimens Predict Sentinel Lymph Node Status in Early-Stage Cervical Cancer? A SENTICOL Group Study.

Background: The prognosis of patients with cervical cancer is significantly worsened in case of lymph node involvement. The goal of this study was to determine whether pathologic features in conization specimens can predict the sentinel lymph node (SLN) status in early-stage cervical cancer.

Methods: An ancillary analysis of two prospective multicentric database on SLN biopsy for cervical cancer (SENTICOL I and II) was carried out.

Long-term oncological safety of sentinel lymph node biopsy in early-stage cervical cancer: A post-hoc analysis of SENTICOL I and SENTICOL II cohorts.

Objectives: To compare oncologic outcomes of patients with early-stage cervical cancer and negative nodes who underwent sentinel lymph node biopsy alone (SLNB) versus pelvic lymphadenectomy (PL).

Methods: An ancillary analysis of two prospective multicentric trials on SLN biopsy for cervical cancer (SENTICOL I and II) was conducted. Only patients with early-stage cervical cancer (IA to IIA FIGO stage), bilateral detection of SLN, negative SLN after ultrastaging and negative non-SLN after final pathologic examination were included.

Validation of the 2018 FIGO Classification for Cervical Cancer: Lymphovascular Space Invasion Should Be Considered in IB1 Stage.

Background: The aim of this study was to assess the prognostic impact of Lymphovascular space invasion (LVSI) in IB1 stage of the revised 2018 International Federation of Gynecology and Obstetrics (FIGO) classification for cervical cancer.

Methods: A secondary analysis of two French prospective multicentric trials on Sentinel Lymph node biopsy for cervical cancer was performed. Patients with 2009 FIGO IB1 stage who underwent radical surgery between January 2005 and July 2012 from 28 French expert centers were included.

Sudden death in epilepsy: There is room for intracranial pressure.

Introduction: Sudden unexpected death in patients with epilepsy (SUDEP) remains a poorly understood entity, and it is unclear whether the same pathomechanisms underlie all sudden deaths occurring in patients with epilepsy. One aspect not included in current models of SUDEP is the role of increased intracranial pressure (ICP) which can be observed immediately upon seizure activity in neurosurgical practice.

Methods: We conducted a systematic review of the occurrence of edema in patients with epilepsy reported to have died of sudden death who underwent brain autopsy or postmortem brain imaging and discuss how increased ICP may contribute to clinical features of SUDEP.

Nomogram Predicting the Likelihood of Parametrial Involvement in Early-Stage Cervical Cancer: Avoiding Unjustified Radical Hysterectomies.

Background: We aimed to establish a tool predicting parametrial involvement (PI) in patients with early-stage cervical cancer and select a sub-group of patients who would most benefit from a less radical surgery.

Methods: We retrospectively reviewed patients from two prospective multicentric databases-SENTICOL I and II-from 2005 to 2012. Patients with early-stage cervical cancer (FIGO 2018 IA with lympho-vascular involvement to IIA1), undergoing radical surgery (hysterectomy or trachelectomy) with bilateral sentinel lymph node (SLN) mapping with no metastatic node or PI on pre-operative imaging, were included.

Transient hypoxemia induced by cortical electrical stimulation: A mapping study in 75 patients.

Objective: To identify which cortical regions are associated with direct electrical stimulation (DES)-induced alteration of breathing significant enough to impair pulse oximetry (SpO).

Methods: Evolution of SpO after 1,352 DES was analyzed in 75 patients with refractory focal epilepsy who underwent stereo-EEG recordings. For each DES, we assessed the change in SpO from 30 seconds prior to DES onset to 120 seconds following the end of the DES.

[Sentinel lymph node biopsy in early-stage cervical cancer: current state of art].

Lymph node status is the most important prognostic factor of survival in women with early stage cervical cancer. Sentinel lymph node (SLN) biopsy is an accurate method for the assessment of lymph nodal involvement in early-stages cervical cancer and has been increasingly used instead of systematic pelvic lymph node dissection (PLND). Less-radical lymph node dissection decreases the associated morbidity of PLND, especially the risk of lower-leg lymphoedema, which affects severely patient quality of life.

Electromagnetic navigation system combined with High-Frequency-Jet-Ventilation for CT-guided hepatic ablation of small US-Undetectable and difficult to access lesions.

To report the feasibility and efficacy of percutaneous ablation of small hepatic malignant tumors that are invisible on ultrasound and inaccessible using in-plane CT guidance, using a combination of high-frequency jet-ventilation (HFJV) and electromagnetic (EM) needle tracking. This study reviewed 27 percutaneous ablations of small hepatic tumors (<2 cm) performed using EM navigation-based probe placement and HFJV. All lesions were invisible on ultrasound and difficult to reach on CT requiring a double-oblique approach.

The Human Brain Project-Synergy between neuroscience, computing, informatics, and brain-inspired technologies.

The Human Brain Project (HBP) is a European flagship project with a 10-year horizon aiming to understand the human brain and to translate neuroscience knowledge into medicine and technology. To achieve such aims, the HBP explores the multilevel complexity of the brain in space and time; transfers the acquired knowledge to brain-derived applications in health, computing, and technology; and provides shared and open computing tools and data through the HBP European brain research infrastructure. We discuss how the HBP creates a transdisciplinary community of researchers united by the quest to understand the brain, with fascinating perspectives on societal benefits.

Hypoxemia following generalized convulsive seizures: Risk factors and effect of oxygen therapy.

Objective: To analyze the factors that determine the occurrence or severity of postictal hypoxemia in the immediate aftermath of a generalized convulsive seizure (GCS).

Methods: We reviewed the video-EEG recordings of 1,006 patients with drug-resistant focal epilepsy included in the REPOMSE study to identify those with ≥1 GCS and pulse oximetry (SpO) measurement. Factors determining recovery of SpO ≥ 90% were investigated using Cox proportional hazards models.

Tolerability of adjunctive eslicarbazepine acetate according to concomitant lamotrigine or carbamazepine use: A subgroup analysis of three phase III trials in adults with focal (partial-onset) seizures.

Objective: To evaluate and compare the effects of concomitant lamotrigine (LTG) or carbamazepine (CBZ) on the incidence of treatment-emergent adverse events (TEAEs) in patients taking adjunctive eslicarbazepine acetate (ESL) for focal (partial-onset) seizures (FS).

Methods: These post-hoc analyses of data pooled from three randomized, double-blind, placebo-controlled studies of adjunctive ESL (BIA-2093-301, -302 and -304) included adults (≥16 years) with FS refractory to 1-3 antiepileptic drugs (AEDs). Patients were randomized equally to placebo, ESL 400 mg (Studies 301 and 302 only), 800 mg, or 1200 mg once daily (8-week baseline, 2-week titration, and 12-week maintenance periods).

Percutaneous intentional intra-luminal-assisted recanalization (PILAR technique) of challenging chronic total occlusions using a high-frequency vibration device.

Objectives: Recanalization of peripheral chronic total occlusions (CTO) is technically challenging especially in cases of in-stent and/or pre-stent and heavily calcified lesions. A high-frequency vibrational device (HFVD) was first used as a secondary-intention device in CTO recanalizations when they were refractory to a guidewire. The aim of this study was to assess the safety and efficacy of the HFVD as a first-line treatment for challenging CTOs and thus to define the percutaneous intentional intraluminal-assisted recanalization (PILAR) technique.

Textile Aging Characterization on New Generations of Explanted Commercial Endoprostheses: A Preliminary Study.

Objective/background: The goal of the present study was to assess the aging phenomena on second-generation textile endoprostheses (EPs) through explant analysis and to establish a preliminary classification of observed defects and material damages.

Methods: From January 2011 to June 2016 110 second- and recent-generation EPs were collected as a part of a European collaborative retrieval program. The analysis focused on the first 41 consecutive commercial EPs collected between 2011 and 2014 and made from polyethylene terephthalate.

[Neuroendocrine prostate cancer: Natural history, molecular features, therapeutic management and future directions].

Neuroendocrine prostate cancer is a rare malignancy with a an adverse prognostic. Histologically, It can be pure (small cells or large cells neuroendocrine carcinoma) or mixed with a adenocarcinoma component. Rarely diagnosed de novo, neuroendocrine prostate cancer is generally associated with advanced stage disease resistant to castration.

[Laparoscopic lateral suspension, another way to treat genital prolapse].

The laparoscopic sacrocolpopexy is the treatment of choice of pelvic organ prolapses since more than twenty years. The laparoscopic lateral suspension with mesh is an alternative technique. Its originality is the subperitoneal passing of the lateral arm of the mesh in the lateral abdominal wall, leaving the skin above the iliac crest, in a place without risks of vascular, nerve, bowel injuries.

Neural Activity Elicited by a Cognitive Task can be Detected in Single-Trials with Simultaneous Intracerebral EEG-fMRI Recordings.

Recent studies have shown that it is feasible to record simultaneously intracerebral EEG (icEEG) and functional magnetic resonance imaging (fMRI) in patients with epilepsy. While it has mainly been used to explore the hemodynamic changes associated with epileptic spikes, this approach could also provide new insight into human cognition. However, the first step is to ensure that cognitive EEG components, that have lower amplitudes than epileptic spikes, can be appropriately detected under fMRI.

Stereo-electro-encephalography-Guided Radiofrequency Thermocoagulation: From In Vitro and In Vivo Data to Technical Guidelines.

Background: Deep brain electrodes have been used for the past 10 years to produce bipolar stereo-electro-encephalography-guided radiofrequency thermocoagulation (SEEG RF-TC). However, this technique is based on empiric knowledge. The aim of this study is 3-fold: 1) provide in vivo animal data concerning the effect of bipolar RF-TC on brain and its safety; 2) assess the parameters of this procedure (current delivery and dipole selection) that produce the most efficient lesion; and 3) provide technical guidelines.