Draft genome sequence of a black yeast fungus isolated from La Brea Tar Pits.

A 30.28 Mb draft genome sequence was assembled and annotated for the melanized ascomycetous fungus NRRL_64630 (Pezizomycotina; Chaetothyriales) isolated from La Brea Tar Pits, Los Angeles, California. Species identification was made by phylogenetic assessment of the Internal Transcribed Spacer.

Survival of Patients With Short-Bowel Syndrome on Home Parenteral Nutrition: A Prospective Cohort Study.

Background: Survival of patients with short-bowel syndrome (SBS) receiving home parenteral nutrition (HPN) and associated factors have not been reported recently in North America. The objective of this study was to determine the long-term survival of adult patients with SBS as the primary indication for HPN and assess factors that may affect survival by using the Canadian HPN Registry.

Methods: This is a retrospective analysis of prospectively collected data extracted from the HPN registry, prior to approval of teduglutide in Canada.

Modelling of Nerve-Muscle Connectivity in a Compartmentalised Tissue Culture Device.

Motor neurons project axons from the hindbrain and spinal cord to muscle, where they induce myofibre contractions through neurotransmitter release at neuromuscular junctions. Studies of neuromuscular junction formation and homeostasis have been largely confined to models. In this study we have merged three powerful tools - pluripotent stem cells, optogenetics and microfabrication - and designed an open microdevice in which motor axons grow from a neural compartment containing embryonic stem cell-derived motor neurons and astrocytes through microchannels to form functional neuromuscular junctions with contractile myofibers in a separate compartment.

Development of the Knowledge of Genome Sequencing (KOGS) questionnaire.

Objective: Whole-genome sequencing is being implemented in research and clinical care, yet tools to assess patients' knowledge are lacking. Our aim was to develop a robust measure of whole-genome sequencing knowledge suitable for patients and other stakeholders including research participants, public, students, and healthcare professionals.

Methods: An initial set of 17 items was developed via an iterative process including literature review, expert consultation, focus groups, and cognitive interviews with patients, and then administered to 243 individuals.

An LC-MS/MS-Based Method for the Quantification of Pyridox(am)ine 5'-Phosphate Oxidase Activity in Dried Blood Spots from Patients with Epilepsy.

We report the development of a rapid, simple, and robust LC-MS/MS-based enzyme assay using dried blood spots (DBS) for the diagnosis of pyridox(am)ine 5'-phosphate oxidase (PNPO) deficiency (OMIM 610090). PNPO deficiency leads to potentially fatal early infantile epileptic encephalopathy, severe developmental delay, and other features of neurological dysfunction. However, upon prompt treatment with high doses of vitamin B, affected patients can have a normal developmental outcome.

Optical control of muscle function by transplantation of stem cell-derived motor neurons in mice.

Damage to the central nervous system caused by traumatic injury or neurological disorders can lead to permanent loss of voluntary motor function and muscle paralysis. Here, we describe an approach that circumvents central motor circuit pathology to restore specific skeletal muscle function. We generated murine embryonic stem cell-derived motor neurons that express the light-sensitive ion channel channelrhodopsin-2, which we then engrafted into partially denervated branches of the sciatic nerve of adult mice.

Reconstruction of phrenic neuron identity in embryonic stem cell-derived motor neurons.

Air breathing is an essential motor function for vertebrates living on land. The rhythm that drives breathing is generated within the central nervous system and relayed via specialised subsets of spinal motor neurons to muscles that regulate lung volume. In mammals, a key respiratory muscle is the diaphragm, which is innervated by motor neurons in the phrenic nucleus.

Derivation and feeder-free propagation of human embryonic stem cells under xeno-free conditions.

Background Aims: Human embryonic stem (hES) cells hold great potential for cell therapy and regenerative medicine because of their pluripotency and capacity for self-renewal. The conditions used to derive and culture hES cells vary between and within laboratories depending on the desired use of the cells. Until recently, stem cell culture has been carried out using feeder cells, and culture media, that contain animal products.