KIF1C Variants Are Associated with Hypomyelination, Ataxia, Tremor, and Dystonia in Fraternal Twins.

Background: (Kinesin Family Member 1C) variants have been associated with hereditary spastic paraplegia and spastic ataxia.

Case Report: We report fraternal twins presenting with cerebellar ataxia and dystonic tremor. Their brain MRI showed a hypomyelinating leukoencephalopathy.

Loss of von Willebrand factor high-molecular-weight multimers at acute phase is associated with detectable anti-ADAMTS13 IgG and neurological symptoms in acquired thrombotic thrombocytopenic purpura.

Introduction: Thrombotic thrombocytopenic purpura (TTP) is a rare life threatening thrombotic microangiopathy caused by a severe functional deficiency of ADAMTS13, most frequently due to autoantibodies to ADAMTS13, thus termed acquired autoimmune TTP. ADAMTS13 specifically regulates the adhesive activity of von Willebrand factor (VWF) by cleaving its high-molecular-weight multimers (HMWM). We investigated whether VWF-HMWM level at acute phase of TTP could be a predictive factor for morbidity.

Angioedema associated with thrombolysis for ischemic stroke: analysis of a case-control study.

Background: Bradykinin-mediated angioedema (AE) is a complication associated with thrombolysis for acute ischemic stroke. Risk factors are unknown and management is discussed.

Objectives: To clarify risk factors associated with bradykinin-mediated AE after thrombolysis for acute ischemic stroke.

Blood lead level in infants and subsequent risk of malaria: A prospective cohort study in Benin, Sub-Saharan Africa.

Lead and malaria both present significant health risks to children in Sub-Saharan Africa. Previous studies have shown that high blood lead levels in children act as a protective factor against subsequent malaria incidence. The main objective of this study was to investigate associations between blood lead level and malaria outcomes prospectively in Beninese children from 12 to 24 months of age.

Which Episodic Memory Performance is Associated with Alzheimer's Disease Biomarkers in Elderly Cognitive Complainers? Evidence from a Longitudinal Observational Study with Four Episodic Memory Tests (Insight-PreAD).

Background: Alzheimer's disease (AD) pathology is found in the brain years before symptoms are usually detected. An episodic memory (EM) decline is considered to be the specific cognitive sign indicating a transition from the preclinical to the prodromal stage of AD. However, there is still no consensus on the most sensitive tool to detect it.

The Methodology Behind Network Thinking: Graphs to Analyze Microbial Complexity and Evolution.

In the post genomic era, large and complex molecular datasets from genome and metagenome sequencing projects expand the limits of what is possible for bioinformatic analyses. Network-based methods are increasingly used to complement phylogenetic analysis in studies in molecular evolution, including comparative genomics, classification, and ecological studies. Using network methods, the vertical and horizontal relationships between all genes or genomes, whether they are from cellular chromosomes or mobile genetic elements, can be explored in a single expandable graph.

Impact of comorbidities and functional impairment on 5-year loss of health utility in patients with lower-limb osteoarthritis in the KHOALA cohort.

Purpose: To examine the respective and combined impact of "hypothetical" functional impairment (FI) and burden of comorbidities accrual on a 5-year risk of health utility (HU) loss in osteoarthritis (OA).

Methods: Participants of the Knee and Hip Osteoarthritis Long-term Assessment (KHOALA) study with a 5-year follow-up were included. FI, number of comorbidities and HU were measured annually by the WOMAC, Functional Comorbidity Index and Short-Form 6D, respectively.

Winter storms accelerate the demise of sea ice in the Atlantic sector of the Arctic Ocean.

A large retreat of sea-ice in the 'stormy' Atlantic Sector of the Arctic Ocean has become evident through a series of record minima for the winter maximum sea-ice extent since 2015. Results from the Norwegian young sea ICE (N-ICE2015) expedition, a five-month-long (Jan-Jun) drifting ice station in first and second year pack-ice north of Svalbard, showcase how sea-ice in this region is frequently affected by passing winter storms. Here we synthesise the interdisciplinary N-ICE2015 dataset, including independent observations of the atmosphere, snow, sea-ice, ocean, and ecosystem.

Guidelines (short version) of the French Society of Otorhinolaryngology (SFORL) on pediatric cochlear implant indications.

Objectives: The authors present the guidelines of the French Society of Otorhinolaryngology - Head and Neck Surgery (Société française d'oto-rhino-laryngologie et de chirurgie de la face et du cou - SFORL) on the indications for cochlear implantation in children.

Methods: A multidisciplinary work group was entrusted with a review of the scientific literature on the above topic. Guidelines were drawn up, based on the articles retrieved and the group members' individual experience.

Overview of osteo-articular involvement in systemic sclerosis: Specific risk factors, clinico-sonographic evaluation, and comparison with healthy women from the French OFELY cohort.

Osteoarticular involvement in systemic sclerosis (SSc) is frequent and varied. Data are scarce on the prevalence and risk factors of osteoporosis (OP). We aimed to assess clinical parameters, radiological parameters, US articular involvements, and the frequency of OP and evaluate SSc-specific risk factors.

Effects of herbicide on non-target microorganisms: Towards a new class of biomarkers?

Conventional agriculture still relies on the general use of agrochemicals (herbicides, fungicides and insecticides) to control various pests (weeds, fungal pathogens and insects), to ensure the yield of crop and to feed a constantly growing population. The generalized use of pesticides in agriculture leads to the contamination of soil and other connected environmental resources. The persistence of pesticide residues in soil is identified as a major threat for in-soil living organisms that are supporting an important number of ecosystem services.

Impact of Leptospermone, a Natural β-Triketone Herbicide, on the Fungal Composition and Diversity of Two Arable Soils.

Impact of leptospermone, a β-triketone bioherbicide, was investigated on the fungal community which supports important soil ecological functions such as decomposition of organic matter and nutrients recycling. This study was done in a microcosm experiment using two French soils, Perpignan (P) and Saint-Jean-de-Fos (SJF), differing in their physicochemical properties and history treatment with synthetic β-triketones. Soil microcosms were treated with leptospermone at recommended dose and incubated under controlled conditions for 45 days.

Stem Cell Proliferation Is Kept in Check by the Chromatin Regulators Kismet/CHD7/CHD8 and Trr/MLL3/4.

Chromatin remodeling accompanies differentiation, however, its role in self-renewal is less well understood. We report that in Drosophila, the chromatin remodeler Kismet/CHD7/CHD8 limits intestinal stem cell (ISC) number and proliferation without affecting differentiation. Stem-cell-specific whole-genome profiling of Kismet revealed its enrichment at transcriptionally active regions bound by RNA polymerase II and Brahma, its recruitment to the transcription start site of activated genes and developmental enhancers and its depletion from regions bound by Polycomb, Histone H1, and heterochromatin Protein 1.

Medical expert witness testimony in France and in Europe.

Health care professionals are usually at a loss when it comes to medical "complaints", essentially because they lack knowledge with regard to existing litigation procedures. After a short reminder of the different rights of appeal in France, we describe how medical appeals function in other European countries. Next, we give the details of how the evaluation of claims of bodily damage works, a process in which every physician may be called upon to participate several times in a career, either as the defendant, or as a medical counselor, or as an expert.

The "Neurological Hat Game": A fun way to learn the neurological semiology.

Introduction: In-class courses are deserted by medical students who tend to find it more beneficial to study in books and through online material. New interactive teaching methods, such as serious games increase both performance and motivation. We developed and assessed a new teaching method for neurological semiology using the "Hat Game" as a basis.

Expert witness testimony step by step and how to prepare it.

The medical expert witness testimony is a key moment in the pathway of patient complaints as well as in the line of defense of the defendant-physician. For the defendant, it is a difficult time, often experienced as humiliating, because his or her competences are questioned, appraised and discussed in public. However, the defendant must perceive and use this encounter as an opportunity to express his/her viewpoint on the medical accident.

Left ventricular and proximal aorta coupling in magnetic resonance imaging: aging together?

The importance of aorta-ventricular coupling in cardiovascular disease is recognized but underestimated. The contribution of the age-related decline in ascending aortic function compared with characteristic impedance and total peripheral resistance on left ventricular function and remodeling is poorly studied. Our aim was to evaluate the relation of proximal aortic distensibility and impedance with left ventricular geometry and function in asymptomatic individuals.

Perioperative infectious risk in urology: Management of preoperative polymicrobial urine culture. A systematic review. By the infectious disease Committee of the French Association of urology.

Introduction: The aim was to assess the risk of postoperative infections in patients with preoperative polymicrobial urine culture and to provide the urologist with practices to minimise the risk of infection in these clinical situations.

Methods: A systematic literature review was carried. All national and international recommendations have been reviewed.

Proposal for a simplified classification of IMD based on a pathophysiological approach: A practical guide for clinicians.

In view of the rapidly expanding number of IMD discovered by next generation sequencing, we propose a simplified classification of IMD that mixes elements from a clinical diagnostic perspective and a pathophysiological approach based on three large categories. We highlight the increasing importance of complex molecule metabolism and its connection with cell biology processes. Small molecule disorders have biomarkers and are divided in two subcategories: accumulation and deficiency.

Delaying Ice and Frost Formation Using Phase-Switching Liquids.

Preventing water droplets from transitioning to ice is advantageous for numerous applications. It is demonstrated that the use of certain phase-change materials, which are in liquid state under ambient conditions and have melting point higher than the freezing point of water, referred herein as phase-switching liquids (PSLs), can impede condensation-frosting lasting up to 300 and 15 times longer in bulk and surface infused state, respectively, compared to conventional surfaces under identical environmental conditions. The freezing delay is primarily a consequence of the release of trapped latent heat due to condensation, but is also affected by the solidified PSL surface morphology and its miscibility in water.

Thiotepa, Busulfan, and Fludarabine Conditioning Regimen in T Cell-Replete HLA-Haploidentical Hematopoietic Stem Cell Transplantation.

We report the outcomes of 51 patients who underwent unmanipulated haploidentical hematopoietic stem cell transplantation (haplo-HSCT) with post-transplantation cyclophosphamide (PT-Cy) and antithymocyte globulin (ATG), from peripheral blood stem cells (PBSCs) or bone marrow, after receipt of a TBF (thiotepa, busulfan, and fludarabine) conditioning regimen. Their median age was 55 years (range, 16 to 72 years). Hematologic diagnoses included acute leukemias (n = 31), lymphoid neoplasm (n = 12), myeloproliferative neoplasm (n = 5), and myelodysplastic syndromes (n = 3).

Diabetes and dyslipidaemia are associated with oxidative stress independently of inflammation in long-term antiretroviral-treated HIV-infected patients.

Aim: Ageing HIV-infected patients controlled by antiretroviral therapy (ART) frequently present age-related comorbidities, such as cardiovascular (CV) events, diabetes, dyslipidaemia, hypertension and chronic kidney disease (CKD). The prevalence of these comorbidities was evaluated in a cohort of long-term-monitored ART-controlled HIV-infected patients, then followed by a search into whether oxidative stress, like inflammation, might be associated with metabolic parameters and/or comorbidities.

Methods: Included were 352 long-term ART patients who started with protease inhibitors (PIs) in 1997-1999.

Quantitative cell-based model predicts mechanical stress response of growing tumor spheroids over various growth conditions and cell lines.

Model simulations indicate that the response of growing cell populations on mechanical stress follows the same functional relationship and is predictable over different cell lines and growth conditions despite experimental response curves look largely different. We develop a hybrid model strategy in which cells are represented by coarse-grained individual units calibrated with a high resolution cell model and parameterized by measurable biophysical and cell-biological parameters. Cell cycle progression in our model is controlled by volumetric strain, the latter being derived from a bio-mechanical relation between applied pressure and cell compressibility.