A Novel Mutation in CPT1A Resulting in Hepatic CPT Deficiency.

The present work presents a "from gene defect to clinics" pathogenesis study of a patient with a hitherto unreported mutation in the CPT1A gene. In early childhood, the patient developed a life-threatening episode (hypoketotic hypoglycemia, liver cytolysis, and hepatomegaly) evocative of a mitochondrial fatty acid oxidation disorder, and presented deficient fibroblast carnitine palmitoyltransferase 1 (CPT1) activity and homozygosity for the c.1783 C > T nucleotide substitution on exon 15 of CPT1A (p.

Human Streptococcus agalactiae strains in aquatic mammals and fish.

Background: In humans, Streptococcus agalactiae or group B streptococcus (GBS) is a frequent coloniser of the rectovaginal tract, a major cause of neonatal infectious disease and an emerging cause of disease in non-pregnant adults. In addition, Streptococcus agalactiae causes invasive disease in fish, compromising food security and posing a zoonotic hazard. We studied the molecular epidemiology of S.

History of the invasion of the anther smut pathogen on Silene latifolia in North America.

Understanding the routes of pathogen introduction contributes greatly to efforts to protect against future disease emergence. Here, we investigated the history of the invasion in North America by the fungal pathogen Microbotryum lychnidis-dioicae, which causes the anther smut disease on the white campion Silene latifolia. This system is a well-studied model in evolutionary biology and ecology of infectious disease in natural systems.

Barriers to gene flow in the marine environment: insights from two common intertidal limpet species of the Atlantic and Mediterranean.

Knowledge of the scale of dispersal and the mechanisms governing gene flow in marine environments remains fragmentary despite being essential for understanding evolution of marine biota and to design management plans. We use the limpets Patella ulyssiponensis and Patella rustica as models for identifying factors affecting gene flow in marine organisms across the North-East Atlantic and the Mediterranean Sea. A set of allozyme loci and a fragment of the mitochondrial gene cytochrome C oxidase subunit I were screened for genetic variation through starch gel electrophoresis and DNA sequencing, respectively.

Polymorphism pattern at a miniature inverted-repeat transposable element locus downstream of the domestication gene Teosinte-branched1 in wild and domesticated pearl millet.

Unravelling the mechanisms involved in adaptation to understand plant morphological evolution is a challenging goal. For crop species, identification of molecular causal polymorphisms involved in domestication traits is central to this issue. Pearl millet, a domesticated grass mostly found in semi-arid areas of Africa and India, is an interesting model to address this topic: the domesticated form shares common derived phenotypes with some other cereals such as a decreased ability to develop basal and axillary branches in comparison with the wild phenotype.

Comparative molecular analysis of ovine and bovine Streptococcus uberis isolates.

Streptococcus uberis causes clinical and subclinical mastitis in cattle and sheep, but it is unknown whether the composition of Strep. uberis populations differs between host species. To address this, we characterized a collection of bovine and ovine Strep.

Draft genome sequence of a nonhemolytic fish-pathogenic Streptococcus agalactiae strain.

Streptococcus agalactiae is a significant Gram-positive bacterial pathogen of terrestrial and aquatic animals. A subpopulation of nonhemolytic strains which appear to be pathogenic only for poikilotherms exists. We report here the first draft genome sequence of a nonhemolytic S.

A European melting pot of harbour porpoise in the French Atlantic coasts inferred from mitochondrial and nuclear data.

Field surveys have reported a global shift in harbour porpoise distribution in European waters during the last 15 years, including a return to the Atlantic coasts of France. In this study, we analyzed genetic polymorphisms at a fragment of the mitochondrial control region (mtDNA CR) and 7 nuclear microsatellite loci, for 52 animals stranded and by-caught between 2000 and 2010 along the Atlantic coasts of France. The analysis of nuclear and mitochondrial loci provided contrasting results.

Mitochondrial dysfunction and lipid homeostasis.

This review is aimed at illustrating that mitochondrial dysfunction and altered lipid homeostasis may concur in a variety of pathogenesis states, being either contributive or consecutive to primary disease events. Underlying mechanisms for this concurrence are far from being the exhaustive elements taking place in disease development. They may however complicate, contribute or cause the disease.

History of expansion and anthropogenic collapse in a top marine predator of the Black Sea estimated from genetic data.

Two major ecological transitions marked the history of the Black Sea after the last Ice Age. The first was the postglacial transition from a brackish-water to a marine ecosystem dominated by porpoises and dolphins once this basin was reconnected back to the Mediterranean Sea (ca. 8,000 y B.

Complete genome sequences of Corynebacterium pseudotuberculosis strains 3/99-5 and 42/02-A, isolated from sheep in Scotland and Australia, respectively.

Here, we report the whole-genome sequences of two ovine-pathogenic Corynebacterium pseudotuberculosis isolates: strain 3/99-5, which represents the first C. pseudotuberculosis genome originating from the United Kingdom, and 42/02-A, the second from Australia. These genome sequences will contribute to the objective of determining the global pan-genome of this bacterium.

Harnessing the immunomodulatory and tissue repair properties of mesenchymal stem cells to restore β cell function.

Islet cell transplantation has therapeutic potential to cure type 1 diabetes (T1D), which is characterized by autoimmune-mediated destruction of insulin-producing β cells. However, current success rates are limited by long-term decline in islet graft function resulting partially from poor revascularization and immune destruction. Mesenchymal stem cells (MSCs) have the potential to enhance islet transplantation and prevent disease progression by a multifaceted approach.

Complete genome sequence of Corynebacterium pseudotuberculosis strain 1/06-A, isolated from a horse in North America.

Corynebacterium pseudotuberculosis causes disease in several animal species, although distinct biovars exist that appear to be restricted to specific hosts. In order to facilitate a better understanding of the differences between biovars, we report here the complete genome sequence of the equine pathogen Corynebacterium pseudotuberculosis strain 1/06-A.

Protein polymer hydrogels: effects of endotoxin on biocompatibility.

Protein polymer-based hydrogels have shown potential for tissue engineering applications, but require biocompatibility testing for in vivo use. Enzymatically crosslinked protein polymer-based hydrogels were tested in vitro and in vivo to evaluate their biocompatibility. Endotoxins present in the hydrogel were removed by Trition X-114 phase separation.

Understanding and managing disaster evacuation on a transportation network.

Uncertain population behaviors in a regional emergency could potentially harm the performance of the region's transportation system and subsequent evacuation effort. The integration of behavioral survey data with travel demand modeling enables an assessment of transportation system performance and the identification of operational and public health countermeasures. This paper analyzes transportation system demand and system performance for emergency management in three disaster scenarios.

Enhanced function of pancreatic islets co-encapsulated with ECM proteins and mesenchymal stromal cells in a silk hydrogel.

Pancreatic islet encapsulation within biosynthetic materials has had limited clinical success due to loss of islet function and cell death. As an alternative encapsulation material, a silk-based scaffold was developed to reestablish the islet microenvironment lost during cell isolation. Islets were encapsulated with ECM proteins (laminin and collagen IV) and mesenchymal stromal cells (MSCs), known to have immunomodulatory properties or to enhance islet cell graft survival and function.

Different biogeographic patterns of prokaryotes and microbial eukaryotes in epilithic biofilms.

Microbial biogeography studies expend much effort in determining whether environmental selection or stochastic processes related to dispersal are more important in shaping community composition. While both types of factors are possibly influential, it is tacitly assumed that protists, or microbial eukaryotes in general, behave biogeographically as prokaryotes because of their small physical size. However, direct evidence for this in exactly the same environment and at the same phylogenetic depth is lacking.

Amino acid sequence of myoglobin from white-tailed deer (Odocoileus virginianus).

Our objective was to determine the primary structure of white-tailed deer myoglobin (Mb). White-tailed deer Mb was isolated from cardiac muscles employing ammonium sulfate precipitation and gel-filtration chromatography. The amino acid sequence was determined by Edman degradation.

Spatio-temporal variation of suspended and sedimentary organic matter quality in the Bay of Marseilles (NW Mediterranean) assessed by biochemical and isotopic analyses.

Isotopic and biochemical features of suspended particulate organic matter (POM) in the water column and of sedimentary organic matter (SOM) were investigated seasonally in the Bay of Marseilles. Biochemical compounds (carbohydrates, lipids and proteins) were consistently more concentrated in POM than in SOM, with SOM mainly composed of insoluble carbohydrates. POM displayed lower δ(13)C and higher δ(15)N values than SOM.

Recurrence of a giant cell tumor of the hand after 42 years: case report.

Giant cell tumors of bone in the hand are rare. We present a case of a recurrent giant cell tumor in the metacarpal 42 years after intralesional excision and autogenous bone grafting. The possibility of recurrent disease should be considered in the evaluation of any patient presenting with new onset of pain at the site of a previously addressed giant cell tumor.

Investigation of La1-xSrxCrO3-∂ (x ~ 0.1) as Membrane for Hydrogen Production.

Various inorganic membranes have demonstrated good capability to separate hydrogen from other gases at elevated temperatures. Hydrogen-permeable, dense, mixed proton-electron conducting ceramic oxides offer superior selectivity and thermal stability, but chemically robust candidates with higher ambipolar protonic and electronic conductivity are needed. In this work, we present for the first time the results of various investigations of La1-xSrxCrO3-∂ membranes for hydrogen production.

Genetic structure in a dynamic baboon hybrid zone corroborates behavioural observations in a hybrid population.

Behaviour and genetic structure are intimately related: mating patterns and patterns of movement between groups or populations influence the movement of genetic variation across the landscape and from one generation to the next. In hybrid zones, the behaviour of the hybridizing taxa can also impact the incidence and outcome of hybridization events. Hybridization between yellow baboons and anubis baboons has been well documented in the Amboseli basin of Kenya, where more anubis-like individuals tend to experience maturational and reproductive advantages.

Host-response patterns of intramammary infections in dairy cows.

Many different bacterial species have the ability to cause an infection of the bovine mammary gland and the host response to these infections is what we recognize as mastitis. In this review we evaluate the pathogen specific response to the three main bacterial species causing bovine mastitis: Escherichia coli, Streptococcus uberis and Staphylococcus aureus. In this paper we will review the bacterial growth patterns, host immune response and clinical response that results from the intramammary infections.