Mitochondrial genetic diseases.

Purpose Of Review: Mitochondrial diseases are individually uncommon, but collectively pose a significant burden on human health. Primary mitochondrial disease is caused by defects in the mitochondrial DNA-encoded genes or in nuclear genes whose products are imported into the mitochondrion. Great strides have been made in determining the cause of mitochondrial disorders, but the clinical ability to diagnose these conditions lags behind because of phenotypic overlap between distinct genetic entities and the complexity and invasiveness of standard diagnostic testing.

Assembly of connexin43 into gap junctions is regulated differentially by E-cadherin and N-cadherin in rat liver epithelial cells.

Cadherins have been thought to facilitate the assembly of connexins (Cxs) into gap junctions (GJs) by enhancing cell-cell contact, however the molecular mechanisms involved in this process have remained unexplored. We examined the assembly of GJs composed of Cx43 in isogenic clones derived from immortalized and nontransformed rat liver epithelial cells that expressed either epithelial cadherin (E-Cad), which curbs the malignant behavior of tumor cells, or neuronal cadherin (N-Cad), which augments the invasive and motile behavior of tumor cells. We found that N-cad expression attenuated the assembly of Cx43 into GJs, whereas E-Cad expression facilitated the assembly.

Effects of the toxin 3-chloroaniline at low concentrations on microbial community dynamics and membrane bioreactor performance.

The effects of toxins at ambient concentrations on microbial activity and community dynamics are poorly understood. We operated 4 membrane bioreactors (MBRs) in parallel; two reactors were continuously exposed to the toxin 3-chloroaniline (3-CA) at environmentally relevant levels, representing 25% of the total chemical oxygen demand (COD; Total COD = 400 mg l(-1) d(-1)), and two reactors received no 3-CA. During the 70 d exposure to 3-CA the microbial communities never adapted as evidenced by a 48% and 14% reduction in COD and ammonia removal, respectively, compared to over 92% reduction for both measurements in the controls.

Bacteria, yeast, worms, and flies: exploiting simple model organisms to investigate human mitochondrial diseases.

The extensive conservation of mitochondrial structure, composition, and function across evolution offers a unique opportunity to expand our understanding of human mitochondrial biology and disease. By investigating the biology of much simpler model organisms, it is often possible to answer questions that are unreachable at the clinical level. Here, we review the relative utility of four different model organisms, namely the bacterium Escherichia coli, the yeast Saccharomyces cerevisiae, the nematode Caenorhabditis elegans, and the fruit fly Drosophila melanogaster, in studying the role of mitochondrial proteins relevant to human disease.

Neurodevelopmental manifestations of mitochondrial disease.

Mitochondrial disease is an increasingly recognized but widely heterogeneous group of multisystemic disorders that commonly involve severe neurodevelopmental manifestations in childhood. This review explores the presentation, genetic basis, and diagnostic evaluation of primary mitochondrial disease. Emphasis is placed on neurodevelopmental findings that may be encountered by a Developmental Pediatrician that should provoke consideration of a mitochondrial disorder.

Leucine-rich pentatricopeptide-repeat containing protein regulates mitochondrial transcription.

Mitochondrial function depends upon the coordinated expression of the mitochondrial and nuclear genomes. Although the basal factors that carry out the process of mitochondrial transcription are known, the regulation of this process is incompletely understood. To further our understanding of mitochondrial gene regulation, we identified proteins that bound to the previously described point of termination for the major mRNA-coding transcript H2.

Feeding of very low birth weight infants born to HCMV-seropositive mothers in Germany, Austria and Switzerland.

Aim:   To evaluate the enteral feeding practice of preterm infants <32 weeks (W) gestational age (GA) or <1500 g birth weight (BW) from human cytomegalovirus (HCMV)-seropositive mothers in Germany, Austria and Switzerland.

Methods:   This prospective cross-sectional study included all neonatal units (NU) admitting preterm infants <32W or <1500g BW in Germany, Austria and Switzerland. In June and July 2009, an anonymized questionnaire was sent via e-mail, asking whether mothers of the above patients were screened for HCMV, and about the enteral feeding protocol for preterm infants <32W GA or <1500g BW from HCMV-seropositive mothers.

Staphylococcal colonization of caretakers of children who have community-acquired skin and soft tissue infections.

Purpose: Colonization with Staphylococcus aureus is considered a risk factor for the rising incidence of pediatric community-acquired skin and soft tissue infections (CA-SSTIs), and intrafamily spread is thought to be the source of colonization.

Methods: A prospective study was conducted to determine skin and nasal staphylococcal colonization rates among the caretakers of CA-SSTI patients and those of nonabscess controls. A questionnaire regarding risk factors was administered to all participants.

Modeling acclimation of photosynthesis to temperature in evergreen conifer forests.

• In this study, we used a canopy photosynthesis model which describes changes in photosynthetic capacity with slow temperature-dependent acclimations. • A flux-partitioning algorithm was applied to fit the photosynthesis model to net ecosystem exchange data for 12 evergreen coniferous forests from northern temperate and boreal regions. • The model accounted for much of the variation in photosynthetic production, with modeling efficiencies (mean > 67%) similar to those of more complex models.

Cholesterol: where science and public health policy intersect.

Current US guidelines for cholesterol recommend limiting intake of cholesterol to <300 mg/day for the general population and <200 mg/day for individuals with elevated low-density lipoprotein cholesterol. These recommendations, however, are at odds with international (e.g.

An energy basin finding algorithm for kinetic Monte Carlo acceleration.

We present an energy basin finding algorithm for identifying the states in absorbing Markov chains used for accelerating kinetic Monte Carlo (KMC) simulations out of trapping energy basins. The algorithm saves groups of states corresponding to basic energy basins in which there is (i) a minimum energy saddle point and (ii) in moving away from the minimum the saddle point energies do not decrease between successive moves. When necessary, these groups are merged to help the system escape basins of basins.

Effects of training time and feedback on ventilation skills in lay rescuers.

Objective: Lay rescuers have difficulties acquiring ventilation skills during training. Non-feedback manikins are still widely employed, although skill acquisition is suboptimal. We analysed if a longer training time and verbal feedback, given by an instructor, improved ventilation skill acquisition with non-feedback manikins.

Adherens junctions remain dynamic.

One of the four principal categories of cell-cell junctions that hold together and shape distinct tissues and organs in vertebrates, adherens junctions (AJs) form cell-cell contacts that connect transmembrane proteins with cytoskeletal actin filaments to provide architectural strength, aid in morphogenesis, and help to maintain proper tissue homeostasis. The classical organization of AJs, consisting of transmembrane cadherins and cytoplasmically attached beta-catenins and alpha-catenins assembled together into a multiprotein complex, was once thought obligatory to craft a robust and stable connection to actin-based cytoskeletal elements, but this architecture has since been challenged and questioned to exist. In a stimulating paper published in a recent issue of BMC Biology, Millán et al.

Suppression of mid-infrared light absorption in undoped congruent lithium niobate crystals.

Absorption measurements on 5 mol. % MgO-doped and undoped congruent lithium niobate (LiNbO(3)) crystals revealed absorption bands in the wavelength range of 2500-2800 nm, caused by incorporated hydrogen ions. High-temperature annealing was applied to the congruent LiNbO(3) (CLN) crystals, which decreased the absorption significantly.

[Punitive written warnings issued by nursing services managers].

This survey aims at analyzing the reasons that generated punitive written warnings from a university hospital of Nursing Services in the period 2001 to 2006 involving different managers. This is an exploratory and descriptive study with quantitative approach. The data were categorized into 4 distinct groups, those being: errors of medicines, disciplinary problems, ethical and technical failures.

Reliability of self-assessed reading of skin tests: a possible approach in research and clinical practice?

In the investigation and management of skin disease, various testing protocols are of importance. The extent to which clinical judgments and decisions on therapy are supported by the performance of such testing can be affected negatively by the lack of time and resources for the performance of tests. In the present study, the possibility of utilizing self-reporting by subjects is investigated.

Green-to-red photoconvertible fluorescent proteins: tracking cell and protein dynamics on standard wide-field mercury arc-based microscopes.

Background: Green fluorescent protein (GFP) and other FP fusions have been extensively utilized to track protein dynamics in living cells. Recently, development of photoactivatable, photoswitchable and photoconvertible fluorescent proteins (PAFPs) has made it possible to investigate the fate of discrete subpopulations of tagged proteins. Initial limitations to their use (due to their tetrameric nature) were overcome when monomeric variants, such as Dendra, mEos, and mKikGR were cloned/engineered.

Higher-order chromatin structure in DSB induction, repair and misrepair.

Double-strand breaks (DSBs), continuously introduced into DNA by cell metabolism, ionizing radiation and some chemicals, are the biologically most deleterious type of genome damage, and must be accurately repaired to protect genomic integrity, ensure cell survival, and prevent carcinogenesis. Although a huge amount of information has been published on the molecular basis and biological significance of DSB repair, our understanding of DSB repair and its spatiotemporal arrangement is still incomplete. In particular, the role of higher-order chromatin structure in DSB induction and repair, movement of DSBs and the mechanism giving rise to chromatin exchanges, and many other currently disputed questions are discussed in this review.

Management of intramedullary spinal cord lesions: interdependence of the longitudinal extension of the lesion and the functional outcome.

To evaluate the impact of the longitudinal extension of intramedullary lesions on the neurological status and postoperative outcome. Forty-six patients operated in our Department between February 2004 and June 2007 have been included in this study. The patients were classified in two groups according to the longitudinal extension of the lesion over less than three vertebral segments (group A) and over exactly three or more vertebral segments (group B).

Real-time dynamic MLC tracking for inversely optimized arc radiotherapy.

Background And Purpose: Motion compensation with MLC tracking was tested for inversely optimized arc radiotherapy with special attention to the impact of the size of the target displacements and the angle of the leaf trajectory.

Materials And Methods: An MLC-tracking algorithm was used to adjust the MLC positions according to the target movements using information from an optical real-time positioning management system. Two plans with collimator angles of 45 degrees and 90 degrees , respectively, were delivered and measured using the Delta(4)(R) dosimetric device moving in the superior-inferior direction with peak-to-peak displacements of 5, 10, 15, 20 and 25 mm and a cycle time of 6s.

E-cadherin differentially regulates the assembly of Connexin43 and Connexin32 into gap junctions in human squamous carcinoma cells.

It is as yet unknown how the assembly of connexins (Cx) into gap junctions (GJ) is initiated upon cell-cell contact. We investigated whether the trafficking and assembly of Cx43 and Cx32 into GJs were contingent upon cell-cell adhesion mediated by E-cadherin. We also examined the role of the carboxyl termini of these Cxs in initiating the formation of GJs.