Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcome.

Objective: We aimed to delineate the phenotypic spectrum and long-term outcome of individuals with KCNB1 encephalopathy.

Methods: We collected genetic, clinical, electroencephalographic, and imaging data of individuals with KCNB1 pathogenic variants recruited through an international collaboration, with the support of the family association "KCNB1 France." Patients were classified as having developmental and epileptic encephalopathy (DEE) or developmental encephalopathy (DE).

A Unified Concept of Acne in the PAPA Spectrum Disorders.

Background: Acne is a common condition. Sometimes acne or acne-like features are a part of autoinflammatory diseases such as PAPA spectrum disorders. Our objective wasto determine whether acne in PAPA spectrum disorders has specific phenotypic traits.

Intraoperative imaging for remnant viability assessment in bilateral posterior retroperitoneoscopic partial adrenalectomy in an experimental model.

Background: A surgical approach preserving functional adrenal tissue allows biochemical cure while avoiding the need for lifelong steroid replacement. The aim of this experimental study was to evaluate the impact of intraoperative imaging during bilateral partial adrenalectomy on remnant perfusion and function.

Methods: Five pigs underwent bilateral posterior retroperitoneoscopic central adrenal gland division (9 divided glands, 1 undivided).

Stroke Thrombectomy in Patients with COVID-19: Initial Experience in 13 Cases.

We performed a retrospective review in both comprehensive stroke units of a region affected early by the coronavirus disease 2019 (COVID-19) pandemic, between March 1 and April 26, 2020, including patients with COVID-19 who underwent mechanical thrombectomy for ischemic stroke. We identified 13 cases, representing 38.2% of 34 thrombectomies performed during this period.

Sustained Remission After Treatment Withdrawal in Autoimmune Hepatitis: A Multicenter Retrospective Study.

Background: In patients with autoimmune hepatitis (AIH), relapse rates between 25 and 100% after treatment withdrawal have been reported. The optimal strategy for immunosuppressive treatment withdrawal is controversial.

Aim: To identify the predictive factors of histological remission and to assess the relapse rate after treatment withdrawal in AIH patients with prolonged biochemical response.

Disturbances of Continuous Sleep and Circadian Rhythms Account for Behavioral Difficulties in Children with Autism Spectrum Disorder.

Sleep disorders are among the most common comorbidities in children with Autism Spectrum Disorder (ASD), and subjectively defined sleep disturbances have been related to ASD symptom severity. However, no study has investigated the differential impact of objectively measured sleep and circadian rhythm disturbances on behavioral difficulties in this population. Fifty-two children with ASD aged 3-10 years underwent assessments of sleep and circadian rest-activity rhythms objectively with actigraphy and subjectively with the Children's Sleep Habits Questionnaire.

Treatment with flow diverter stent during pregnancy.

Intracranial aneurysms are rarely diagnosed during pregnancy. If treatment is necessary, surgery was traditionally preferred over embolization in case of ongoing pregnancy, due to concerns regarding foetal radiation exposure. We present a case of 21 mm unruptured carotid-ophthalmic aneurysm diagnosed during pregnancy and treated with flow diversion.

Coronavirus disease 2019 in pregnancy was associated with maternal morbidity and preterm birth.

Background: Despite the mainly reassuring outcomes for pregnant women with coronavirus disease 2019 reported by previous case series with small sample sizes, some recent reports of severe maternal morbidity requiring intubation and of maternal deaths show the need for additional data about the impact of coronavirus disease 2019 on pregnancy outcomes.

Objective: This study aimed to report the maternal characteristics and clinical outcomes of pregnant women with coronavirus disease 2019.

Study Design: This retrospective, single-center study includes all consecutive pregnant women with confirmed (laboratory-confirmed) or suspected (according to the Chinese management guideline [version 7.

Impact of the COVID-19 outbreak on acute stroke pathways - insights from the Alsace region in France.

Background And Purpose: To date, no study has attempted to quantify the impact of the COVID-19 outbreak on the incidence and treatment of acute stroke.

Methods: This was a retrospective review of acute stroke pathway parameters in all three stroke units in the Alsace region during the first month of the outbreak (1-31 March 2020), using the similar period from 2019 as a comparator. A secondary detailed analysis of all stroke alerts and stroke unit admissions was performed in the centre with the largest case volume.

Comprehensive Molecular Characterization Identifies Distinct Genomic and Immune Hallmarks of Renal Medullary Carcinoma.

Renal medullary carcinoma (RMC) is a highly lethal malignancy that mainly afflicts young individuals of African descent and is resistant to all targeted agents used to treat other renal cell carcinomas. Comprehensive genomic and transcriptomic profiling of untreated primary RMC tissues was performed to elucidate the molecular landscape of these tumors. We found that RMC was characterized by high replication stress and an abundance of focal copy-number alterations associated with activation of the stimulator of the cyclic GMP-AMP synthase interferon genes (cGAS-STING) innate immune pathway.

Severe Neutropenia and Agranulocytosis Related to Antithyroid Drugs: A Study of 30 Cases Managed in A Single Reference Center.

The most important series devoted to antithyroid drug-induced severe neutropenia and agranulocytosis are Japanese studies, almost specifically in relation to the intake of methimazole. The clinical data of 30 Caucasian patients followed up for antithyroid drug-induced neutropenia at a third-level hospital are reported. The data of 30 patients with idiosyncratic antithyroid drug-induced neutropenia and agranulocytosis from a cohort study on drug-induced neutropenia and agranulocytosis conducted at the University Hospital of Strasbourg (France) were retrospectively reviewed.

Balloon-assisted coiling of intracranial aneurysms using the Eclipse 2L double lumen balloon.

Background: Eclipse 2L is a new double lumen balloon microcatheter for neurovascular use, with several design features that separate it from previous generation devices. We aimed to report our initial experience of balloon-assisted coiling of intracranial aneurysms using the Eclipse 2L balloon.

Materials And Methods: Retrospective single-center review of patients who underwent balloon-assisted coiling with the Eclipse 2L balloon, for ruptured or unruptured intracranial aneurysms between 1 June 2016 and 31 December 2018.

Validity of Actigraphy Compared to Polysomnography for Sleep Assessment in Children With Autism Spectrum Disorder.

Actigraphy (ACT) is a non-invasive objective assessment tool for the study of sleep-wake rhythms. It is of particular interest in children with autism spectrum disorder (ASD), as sleep disorders are highly prevalent and have a significant impact on both cognitive and behavioral functions. As polysomnography (PSG), the gold standard for the assessment of sleep, is difficult to perform in children with ASD, ACT has become a tool of choice but has not yet been validated against PSG using state-of-the-art methodology.

Fluorescence-enabled assessment of adrenal gland localization and perfusion in posterior retroperitoneoscopic adrenal surgery in a preclinical model.

Background: The posterior retroperitoneoscopic adrenal access represents a challenge in orientation and working space creation. The aim of this experimental acute study was to evaluate the impact of computer-assisted quantitative fluorescence imaging on adrenal gland identification and assessment of intraoperative remnant perfusion for adrenal resection in the posterior retroperitoneoscopic approach.

Methods: Six pigs underwent simultaneous (n = 5) or sequential (n = 1) bilateral posterior retroperitoneoscopic adrenalectomy (n = 12).

Use of morselized allografts for acetabular reconstruction during THA revision: French multicenter study of 508 cases with 8 years' average follow-up.

Background: In the context of acetabular reconstruction, bone defects can be filled with processed or unprocessed bone allografts. Published data are often contradictory on this topic and few studies have been done comparing processed allografts to fresh-frozen ones. This led us to conduct a large study to measure the factors impacting the survival of THA revision: (1) type of allograft and cup, (2) technical factors or patient-related factors.

Embolization of very small (≤3 mm) unruptured intracranial aneurysms: A large single-center experience on treatment of unruptured versus ruptured cases.

Objective: In selected cases, embolization can be indicated for very small unruptured intracranial aneurysms. Previous studies reported high intraprocedural rupture rates. Recent improvements of endovascular devices and availability of small, soft platinum coils may lead to improved safety and efficacy profiles.

The classical NLRP3 inflammasome controls FADD unconventional secretion through microvesicle shedding.

Fas-associated death domain (FADD) is a key adaptor molecule involved in numerous physiological processes including cell death, proliferation, innate immunity and inflammation. Therefore, changes in FADD expression have dramatic cellular consequences. In mice and humans, FADD regulation can occur through protein secretion.

Predictors and Clinical Impact of Delayed Stent Thrombosis after Thrombectomy for Acute Stroke with Tandem Lesions.

Background And Purpose: There are very few published data on the patency of carotid stents implanted during thrombectomies for tandem lesions in the anterior circulation. We aimed to communicate our experience of stenting in the acute setting with systematic follow-up of stent patency and discuss predictors and clinical repercussions of delayed stent thrombosis.

Materials And Methods: We performed a retrospective study of stroke thrombectomies in a single center between January 2009 and April 2018.

Correction to: Distal radius fluoroscopic skyline view: extension-supination versus flexion-supination.

The original version of this article unfortunately contained a mistake and has been corrected. First and last names of the author were interchanged. The correct author name is given below.