Use of assistive technology to assess distal motor function in subjects with neuromuscular disease.

Unlabelled: Among the 32 items of the Motor Function Measure scale, 3 concern the assessment of hand function on a paper-based support. Their characteristics make it possible to envisage the use of a tablet instead of the original paper-based support for their completion. This would then make it possible to automate the score to reduce intra- and inter-individual variability.

Labelling of Active Transcription Sites with Argonaute NRDE-3-Image Active Transcription Sites in .

Live labelling of active transcription sites is critical to our understanding of transcriptional dynamics. In the most widely used method, RNA sequence MS2 repeats are added to the transcript of interest, on which fluorescently tagged Major Coat Protein binds, and labels transcription sites and transcripts. Here we describe another strategy, using the Argonaute protein NRDE-3, repurposed as an RNA-programmable RNA binding protein.

A Patient-Centered Evaluation of Meaningful Change on the 32-Item Motor Function Measure in Spinal Muscular Atrophy Using Qualitative and Quantitative Data.

The 32-item Motor Function Measure (MFM32) is an assessment of motor function used to evaluate fine and gross motor ability in patients with neuromuscular disorders, including spinal muscular atrophy (SMA). Reliability and validity of the MFM32 have been documented in individuals with SMA. Through semi-structured qualitative interviews ( = 40) and an online survey in eight countries ( = 217) with individuals with Types 2 and 3 SMA aged 2-59 years old and caregivers, the meaning of changes on a patient-friendly version of the MFM32 was explored.

Imaging of native transcription and transcriptional dynamics in vivo using a tagged Argonaute protein.

A flexible method to image unmodified transcripts and transcription in vivo would be a valuable tool to understand the regulation and dynamics of transcription. Here, we present a novel approach to follow native transcription, with fluorescence microscopy, in live C. elegans.

Neuronal specification in : combining lineage inheritance with intercellular signaling.

The nervous system is composed of a high diversity of neuronal types. How this diversity is generated during development is a key question in neurobiology. Addressing this question is one of the reasons that led Sydney Brenner to develop the nematode as a model organism.

Study Design and Rationale: A Multicenter, Prospective Trial of Electromagnetic Bronchoscopic and Electromagnetic Transthoracic Navigational Approaches for the Biopsy of Peripheral Pulmonary Nodules (ALL IN ONE Trial).

Background: Pulmonary nodules are a common but difficult issue for physicians as most identified on imaging are benign but those identified early that are cancerous are potentially curable. Multiple diagnostic options are available, ranging from radiographic surveillance, minimally invasive biopsy (bronchoscopy or transthoracic biopsy) to more invasive surgical biopsy/resection. Each technique has differences in diagnostic yield and complication rates with no established gold standard.

Effects of low intraperitoneal pressure and a warmed, humidified carbon dioxide gas in laparoscopic surgery: a randomized clinical trial.

Laparoscopic surgery technology continues to advance. However, much less attention has been focused on how alteration of the laparoscopic surgical environment might improve clinical outcomes. We conducted a randomized, 2 × 2 factorial trial to evaluate whether low intraperitoneal pressure (IPP) (8 mmHg) and/or warmed, humidified CO (WH) gas are better for minimizing the adverse impact of a CO pneumoperitoneum on the peritoneal environment during laparoscopic surgery and for improving clinical outcomes compared to the standard IPP (12 mmHg) and/or cool and dry CO (CD) gas.

Pervasive divergence of transcriptional gene regulation in Caenorhabditis nematodes.

Because there is considerable variation in gene expression even between closely related species, it is clear that gene regulatory mechanisms evolve relatively rapidly. Because primary sequence conservation is an unreliable proxy for functional conservation of cis-regulatory elements, their assessment must be carried out in vivo. We conducted a survey of cis-regulatory conservation between C.

Isolation of C. elegans and related nematodes.

Isolating Caenorhabditis and other nematodes from the wild first requires field sampling (reviewed in Section 1). The easiest and most efficient way to recover the animals from any substrate is to place the sample onto a standard C. elegans culture plate (Section 2.

A test revealing the slow acquisition and the dorsal stream substrate of visuo-spatial perception.

We propose a battery of simple clinical tests to assess the development of elementary visuo-spatial perception. We postulate that most of the tasks we selected rely on the visual dorsal stream, although the dual-stream theory (Milner & Goodale, 1995) discards the role of the dorsal stream for visual perception. In order to test the contribution of this anatomical substrate in visuo-spatial perception, we evaluated the performance of two adult patients with acquired bilateral occipito-parietal (dorsal stream) damage.

Coevolution within and between regulatory loci can preserve promoter function despite evolutionary rate acceleration.

Phenotypes that appear to be conserved could be maintained not only by strong purifying selection on the underlying genetic systems, but also by stabilizing selection acting via compensatory mutations with balanced effects. Such coevolution has been invoked to explain experimental results, but has rarely been the focus of study. Conserved expression driven by the unc-47 promoters of Caenorhabditis elegans and C.

Distinct functional constraints partition sequence conservation in a cis-regulatory element.

Different functional constraints contribute to different evolutionary rates across genomes. To understand why some sequences evolve faster than others in a single cis-regulatory locus, we investigated function and evolutionary dynamics of the promoter of the Caenorhabditis elegans unc-47 gene. We found that this promoter consists of two distinct domains.

Detecting heterozygosity in shotgun genome assemblies: Lessons from obligately outcrossing nematodes.

The majority of nematodes are gonochoristic (dioecious) with distinct male and female sexes, but the best-studied species, Caenorhabditis elegans, is a self-fertile hermaphrodite. The sequencing of the genomes of C. elegans and a second hermaphrodite, C.

Microsporidia are natural intracellular parasites of the nematode Caenorhabditis elegans.

For decades the soil nematode Caenorhabditis elegans has been an important model system for biology, but little is known about its natural ecology. Recently, C. elegans has become the focus of studies of innate immunity and several pathogens have been shown to cause lethal intestinal infections in C.

Oscheius tipulae, a widespread hermaphroditic soil nematode, displays a higher genetic diversity and geographical structure than Caenorhabditis elegans.

The nematode Oscheius tipulae belongs to the same family (Rhabditidae) as the model species Caenorhabditis elegans. Both species reproduce through self-fertilizing hermaphrodites and facultative males. Recent studies have shown that the self-fertile C.

Natural variation and population genetics of Caenorhabditis elegans.

C. elegans presents a low level of molecular diversity, which may be explained by its selfing mode of reproduction. Recent work on the genetic structure of natural populations of C.

Trends, stasis, and drift in the evolution of nematode vulva development.

Background: A surprising amount of developmental variation has been observed for otherwise highly conserved features, a phenomenon known as developmental system drift. Either stochastic processes (e.g.

Temporal dynamics and linkage disequilibrium in natural Caenorhabditis elegans populations.

Caenorhabditis elegans is a major laboratory model system yet a newcomer to the field of population genetics, and relatively little is known of its biology in the wild. Recent studies of natural populations at a single time point revealed strong spatial population structure and suggested that these populations may be very dynamic. We have therefore studied several natural C.