Evaluation of professional practices in the use of mexiletine for the management of childhood myotonia in French pediatric neuromuscular centers (MEXI-PEDI survey).

Background: Myotonia is the main feature of both myotonic dystrophy (DM) and non-dystrophic myotonia (NDM). It is felt as stiffness, pain, fatigue, and weakness. In France, mexiletine, a non-selective voltage-gated sodium channel blocker, is approved for the treatment of myotonia in adults with NDM, and it has a temporary recommendation for use in the symptomatic treatment of DM in adults.

The assignment-dial-a-ride-problem.

In this paper, we present the first Assignment-Dial-A-Ride problem motivated by a real-life problem faced by medico-social institutions in France. Every day, disabled people use ride-sharing services to go to an appropriate institution where they receive personal care. These institutions have to manage their staff to meet the demands of the people they receive.

Direct inhibition of phosphate transport by immune signaling in Arabidopsis.

Soil availability of inorganic ortho-phosphate (PO, P) is a key determinant of plant growth and fitness. Plants regulate the capacity of their roots to take up inorganic phosphate by adapting the abundance of H-coupled phosphate transporters of the PHOSPHATE TRANSPORTER 1 (PHT1) family at the plasma membrane (PM) through transcriptional and post-translational changes driven by the genetic network of the phosphate starvation response (PSR). Increasing evidence also shows that plants integrate immune responses to alleviate phosphate starvation stress through the association with beneficial microbes.

Live single-cell transcriptional dynamics via RNA labelling during the phosphate response in plants.

Plants are constantly adapting to ambient fluctuations through spatial and temporal transcriptional responses. Here, we implemented the latest-generation RNA imaging system and combined it with microfluidics to visualize transcriptional regulation in living Arabidopsis plants. This enabled quantitative measurements of the transcriptional activity of single loci in single cells, in real time and under changing environmental conditions.

Expanding the Spectrum of Neurological Manifestations in Cutis Laxa, Autosomal Recessive, Type IIIA.

Cutis laxa is a heterogeneous group of diseases, characterized by abundant and wrinkled skin and a variable degree of intellectual disability. Cutis laxa, autosomal recessive, type IIIA and autosomal dominant 3 syndromes are caused by autosomal recessive or de novo pathogenic variants in . Autosomal recessive variants are known to lead to the most severe neurological phenotype, and very few patients have been described.

The Phosphate Fast-Responsive Genes and Affect Phosphocholine and Phosphoethanolamine Content.

Phosphate starvation-mediated induction of the HAD-type phosphatases PPsPase1 (AT1G73010) and PECP1 (AT1G17710) has been reported in Arabidopsis (). However, little is known about their in vivo function or impact on plant responses to nutrient deficiency. The preferences of PPsPase1 and PECP1 for different substrates have been studied in vitro but require confirmation in planta.

A novel role for the root cap in phosphate uptake and homeostasis.

The root cap has a fundamental role in sensing environmental cues as well as regulating root growth via altered meristem activity. Despite this well-established role in the control of developmental processes in roots, the root cap's function in nutrition remains obscure. Here, we uncover its role in phosphate nutrition by targeted cellular inactivation or phosphate transport complementation in Arabidopsis, using a transactivation strategy with an innovative high-resolution real-time (33)P imaging technique.

Performance and Limitations of Phosphate Quantification: Guidelines for Plant Biologists.

Phosphate (Pi) is a macronutrient that is essential for plant life. Several regulatory components involved in Pi homeostasis have been identified, revealing a very high complexity at the cellular and subcellular levels. Determining the Pi content in plants is crucial to understanding this regulation, and short real-time(33)Pi uptake imaging experiments have shown Pi movement to be highly dynamic.

Reducing the genetic redundancy of Arabidopsis PHOSPHATE TRANSPORTER1 transporters to study phosphate uptake and signaling.

Arabidopsis (Arabidopsis thaliana) absorbs inorganic phosphate (Pi) from the soil through an active transport process mediated by the nine members of the PHOSPHATE TRANSPORTER1 (PHT1) family. These proteins share a high level of similarity (greater than 61%), with overlapping expression patterns. The resulting genetic and functional redundancy prevents the analysis of their specific roles.

Identification of phosphatin, a drug alleviating phosphate starvation responses in Arabidopsis.

Inorganic phosphate (Pi) is present in most soils at suboptimal concentrations, strongly limiting plant development. Plants have the ability to sense and adapt to the surrounding ionic environment, and several genes involved in the response to Pi starvation have been identified. However, a global understanding of the regulatory mechanisms involved in this process is still elusive.

Estimation of the risk factors for falls in the elderly: can meta-analysis provide a valid answer?

The objective of this study was to analyze whether a meta-analysis could allow us to draw useful conclusions about the risk factors for falls in the elderly. A systematic review was carried out of various databases and completed manually. To satisfy the inclusion criteria, an article had to examine a population of subjects aged over 60 years to pertain to falls occurring during daily living activities, and to involve observational or interventional studies.

Could home be an appropriate location for performing posturographic assessments in elderly subjects?

Introduction: Posturographic measurements are often performed in hospital in the context of assessing fall risks in elderly subjects. These hospital visits may generate different kinds of stimuli that could influence test outcomes.

Study Aim: The aim was to investigate whether posturographic measurements performed both at home and in hospital in a randomized order provide similar data.

A novel fry1 allele reveals the existence of a mutant phenotype unrelated to 5'->3' exoribonuclease (XRN) activities in Arabidopsis thaliana roots.

Background: Mutations in the FRY1/SAL1 Arabidopsis locus are highly pleiotropic, affecting drought tolerance, leaf shape and root growth. FRY1 encodes a nucleotide phosphatase that in vitro has inositol polyphosphate 1-phosphatase and 3',(2'),5'-bisphosphate nucleotide phosphatase activities. It is not clear which activity mediates each of the diverse biological functions of FRY1 in planta.

Phosphate Import in Plants: Focus on the PHT1 Transporters.

The main source of phosphorus for plants is inorganic phosphate (Pi), which is characterized by its poor availability and low mobility. Uptake of this element from the soil relies heavily upon the PHT1 transporters, a specific family of plant plasma membrane proteins that were identified by homology with the yeast PHO84 Pi transporter. Since the discovery of PHT1 transporters in 1996, various studies have revealed that their function is controlled by a highly complex network of regulation.

Dissection of local and systemic transcriptional responses to phosphate starvation in Arabidopsis.

Phosphate is a crucial and often limiting nutrient for plant growth. To obtain inorganic phosphate (P(i) ), which is very insoluble, and is heterogeneously distributed in the soil, plants have evolved a complex network of morphological and biochemical processes. These processes are controlled by a regulatory system triggered by P(i) concentration, not only present in the medium (external P(i) ), but also inside plant cells (internal P(i) ).

Episodes of falling among elderly people: a systematic review and meta-analysis of social and demographic pre-disposing characteristics.

Context: The multifactorial nature of falls among elderly people is well-known. Identifying the social-demographic characteristics of elderly people who fall would enable us to define the typical profile of the elderly who are at risk of falling.

Objective: We aimed to isolate studies in which the social-demographic risk factors for falls among the elderly have been evaluated and to carry out a meta-analysis by combining the results of all of these selected studies.

Laxatives as a risk factor for iatrogenic falls in elderly subjects: myth or reality?

Background: The multifactorial nature of falls is well known, and several studies on falls in the elderly have reported that laxatives can be a risk factor, but without attempting to discuss possible mechanisms to explain this role.

Objective: We aimed to isolate studies in which the risk factors for falls in the elderly related to laxatives have been evaluated and to carry out a meta-analysis combining the results of all identified good-quality studies.

Methods: Systematic literature review using the keywords 'accidental fall/numerical data' and 'risk factors'.

Psychotropic drugs and falls in the elderly people: updated literature review and meta-analysis.

Objective: To carry out meta-analyses on psychotropic drugs and to provide an update of the risk of falling in the elderly people related to psychotropic drugs.

Design: Meta-analyses of studies on psychotropic drugs.

Results: 177 studies are included, of which 71 have data on risk factors associated with psychotropic drugs.

Effects of a physical training programme on cognitive function and walking efficiency in elderly persons with dementia.

Objectives: To study the effects of physical stimulation based on walking exercises, equilibrium and endurance on cognitive function and walking efficiency in patients with dementia.

Methods: Randomized controlled trial including 31 subjects suffering from dementia (age: 81.8 +/- 5.

Phosphate deficiency promotes modification of iron distribution in Arabidopsis plants.

Phosphate (Pi) is an essential element for plant development and metabolism. Due to its low availability and mobility in soils, it is often a limiting nutrient for their growth. This phenomenon is reinforced by the formation of insoluble complexes in the environment with many cations, affecting the solubility of both phosphate and associated ions.

A genome-wide transcriptional analysis using Arabidopsis thaliana Affymetrix gene chips determined plant responses to phosphate deprivation.

Phosphorus, one of the essential elements for plants, is often a limiting nutrient because of its low availability and mobility in soils. Significant changes in plant morphology and biochemical processes are associated with phosphate (Pi) deficiency. However, the molecular bases of these responses to Pi deficiency are not thoroughly elucidated.

Transcriptional regulation and functional properties of Arabidopsis Pht1;4, a high affinity transporter contributing greatly to phosphate uptake in phosphate deprived plants.

Phosphate mobilization into the plant is a complex process requiring numerous transporters for absorption and translocation of this major nutrient. In the genome of Arabidopsis thaliana, nine closely related high affinity phosphate transporters have been identified but their specific roles remain unclear. Here we report the molecular, histological and physiological characterization of Arabidopsis pht1;4 high affinity phosphate transporter mutants.