Implementation of EHR-based strategies to improve outpatient CAD care.

Objectives: To evaluate the effects of a multifaceted quality improvement intervention during 2 time periods on 4 coronary artery disease [CAD] measures in 4 primary care practices. During the first phase, electronic reminders prompted physicians to order indicated medications or record contraindications and refusals (exceptions). In the second phase, physicians also received reports about their performance (including lists of patients not satisfying these measures), and financial incentives were announced.

Relation of cytosolic iron excess to cardiomyopathy of Friedreich's ataxia.

Cardiomyopathy is the leading cause of death in Friedreich's ataxia. This autosomal recessive disease is caused by a homozygous guanine-adenine-adenine trinucleotide repeat expansion in the frataxin gene (chromosome 9q21). One untoward effect of frataxin deficiency is the lack of iron (Fe)-sulfur clusters.

Pantothenate kinase-associated neurodegeneration: altered mitochondria membrane potential and defective respiration in Pank2 knock-out mouse model.

Neurodegeneration with brain iron accumulation (NBIA) comprises a group of neurodegenerative disorders characterized by high brain content of iron and presence of axonal spheroids. Mutations in the PANK2 gene, which encodes pantothenate kinase 2, underlie an autosomal recessive inborn error of coenzyme A metabolism, called pantothenate kinase-associated neurodegeneration (PKAN). PKAN is characterized by dystonia, dysarthria, rigidity and pigmentary retinal degeneration.

Study of FTMT and ABCA4 genes in a patient affected by age-related macular degeneration: identification and analysis of new mutations.

Background: Age-related macular degeneration (AMD) is a multifactorial disease for which an involvement of alterations in the retinal ABC transporter gene (ABCA4) is still debated. Oxidative stress in retinal pigment epithelial cells has been postulated to contribute to the pathogenesis of the disease. Mitochondrial ferritin (FtMt), an iron-sequestering protein, is expressed in cell types characterized by high metabolic activity and oxygen consumption, including human retina, suggesting a role in protecting mitochondria from iron-dependent oxidative damage.

Skin fibroblasts from pantothenate kinase-associated neurodegeneration patients show altered cellular oxidative status and have defective iron-handling properties.

Pantothenate kinase-associated neurodegeneration (PKAN) is a neurodegenerative disease belonging to the group of neurodegeneration with brain iron accumulation disorders. It is characterized by progressive impairments in movement, speech and cognition. The disease is inherited in a recessive manner due to mutations in the Pantothenate Kinase-2 (PANK2) gene that encodes a mitochondrial protein involved in Coenzyme A synthesis.

The 22nd ion channel meeting, september 2011, france.

The 22(nd) Ion Channel Meeting was organized by the French Ion Channel Society (Association Canaux Ioniques) from the 25(th) to the 28(th) of September 2011 on the French Riviera (Giens). This year again, more than one hundred researchers from France, Europe and extra-European countries gathered to present and discuss their recent advances and future challenges in the ion channels and transporters field. The scientific committee organized a plenary lecture and five thematic symposia by inviting international researchers to present their recent outstanding work on themes as diverse as muscular channelopathies, regulation of channels by extracellular matrix, receptor-channels interactions, localization and distribution of ion channels, their involvement in the cell life and death, and finally how they participate in the evolution and adaptability of cellular excitability.

Normograde and retrograde pinning of the distal fragment in feline humeral fractures.

Objective: To determine if normograde and retrograde pinning of the distal humeral fragment, performed to maximize pin purchase in this fragment, would damage vital structures in and around the elbow and shoulder joints in cats.

Study Design: Anatomic study.

Sample Population: Cadaveric cats (n = 12; 24 thoracic limbs).

Autophagy inhibitor Lys05 has single-agent antitumor activity and reproduces the phenotype of a genetic autophagy deficiency.

Autophagy is a lysosome-dependent degradative process that protects cancer cells from multiple stresses. In preclinical models, autophagy inhibition with chloroquine (CQ) derivatives augments the efficacy of many anticancer therapies, but CQ has limited activity as a single agent. Clinical trials are underway combining anticancer agents with hydroxychloroquine (HCQ), but concentrations of HCQ required to inhibit autophagy are not consistently achievable in the clinic.

Role of the neuronal K-Cl co-transporter KCC2 in inhibitory and excitatory neurotransmission.

The K-Cl co-transporter KCC2 plays multiple roles in the physiology of central neurons and alterations of its function and/or expression are associated with several neurological conditions. By regulating intraneuronal chloride homeostasis, KCC2 strongly influences the efficacy and polarity of the chloride-permeable γ-aminobutyric acid (GABA) type A and glycine receptor (GlyR) mediated synaptic transmission. This appears particularly critical for the development of neuronal circuits as well as for the dynamic control of GABA and glycine signaling in mature networks.

Effects of cross-language voice training on speech perception: whose familiar voices are more intelligible?

Previous research has shown that familiarity with a talker's voice can improve linguistic processing (herein, "Familiar Talker Advantage"), but this benefit is constrained by the context in which the talker's voice is familiar. The current study examined how familiarity affects intelligibility by manipulating the type of talker information available to listeners. One group of listeners learned to identify bilingual talkers' voices from English words, where they learned language-specific talker information.

A human mutation in Gabrg2 associated with generalized epilepsy alters the membrane dynamics of GABAA receptors.

Neuronal activity modulates the membrane diffusion of postsynaptic γ-aminobutyric acid (GABA)(A) receptors (GABA(A)Rs), thereby regulating the efficacy of GABAergic synapses. The K289M mutation in GABA(A)Rs subunit γ2 has been associated with the generalized epilepsy with febrile seizures plus (GEFS+) syndrome. This mutation accelerates receptor deactivation and therefore reduces inhibitory synaptic transmission.

The neuronal K-Cl cotransporter KCC2 influences postsynaptic AMPA receptor content and lateral diffusion in dendritic spines.

The K-Cl cotransporter KCC2 plays an essential role in neuronal chloride homeostasis, and thereby influences the efficacy and polarity of GABA signaling. Although KCC2 is expressed throughout the somatodendritic membrane, it is remarkably enriched in dendritic spines, which host most glutamatergic synapses in cortical neurons. KCC2 has been shown to influence spine morphogenesis and functional maturation in developing neurons, but its function in mature dendritic spines remains unknown.

Over-expression of mitochondrial ferritin affects the JAK2/STAT5 pathway in K562 cells and causes mitochondrial iron accumulation.

Background: Mitochondrial ferritin is a nuclear encoded iron-storage protein localized in mitochondria. It has anti-oxidant properties related to its ferroxidase activity, and it is able to sequester iron avidly into the organelle. The protein has a tissue-specific pattern of expression and is also highly expressed in sideroblasts of patients affected by hereditary sideroblastic anemia and by refractory anemia with ringed sideroblasts.

The Broad Autism Phenotype Questionnaire: mothers versus fathers of children with an autism spectrum disorder.

Parents of individuals with autism were examined using the Broad Autism Phenotype Questionnaire (BAPQ; Hurley et al. in J Autism Dev Disord 37:1679-1690, 2007) assessing BAP-related personality and language characteristics. The BAPQ was administered to parents as a self-report and as an informant (spouse)-based measure.

Perceptions of gastroenterologists and nurses regarding irritable bowel syndrome and inflammatory bowel disease.

Objective: Irritable bowel syndrome (IBS) and inflammatory bowel disease (IBD) have similar symptoms, and both adversely affect patients' quality of life. The objective of this study was to compare the perceptions of physicians and nurses regarding IBS and IBD.

Methods: The Illness Perception Questionnaire Revised, adapted for medical staff, was sent at random to 300 physicians and nurses of gastroenterology departments and outpatient clinics nationwide to assess perceptions of IBS or IBD.

Identification of a functional rare variant in autism using genome-wide screen for monoallelic expression.

Recent work has led to the identification of several susceptibility genes for autism spectrum disorder (ASD) and an increased appreciation of the importance of rare and de novo mutations. Some of the mutations may be very hard to detect using current strategies, especially if they are located in regulatory regions. We present a new approach to identify functional mutations that exploit the fact that many rare mutations disrupt the expression of genes from a single parental chromosome.

All-trans retinoic acid upregulates reduced CD38 transcription in lymphoblastoid cell lines from Autism spectrum disorder.

Deficits in social behavior in mice lacking the CD38 gene have been attributed to impaired secretion of oxytocin. In humans, similar deficits in social behavior are associated with autistic spectrum disorder (ASD), for which genetic variants of CD38 have been pinpointed as provisional risk factors. We sought to explore, in an in vitro model, the feasibility of the theory that restoring the level of CD38 in ASD patients could be of potential clinical benefit.

Palladium-catalyzed C-CN activation for intramolecular cyanoesterification of alkynes.

Conditions for the C-CN activation and intramolecular cyanoesterification of alkynes to provide butenolides in good to excellent yields are presented. Pd catalysts, high temperatures/short reaction times (microwave irradiation), and Lewis basic solvents minimized competitive decarbonylation. Less sterically encumbered, electron-rich alkynes underwent cyanoesterification with greater ease compared to sterically encumbered, electron-deficient alkynes.

Low CD38 expression in lymphoblastoid cells and haplotypes are both associated with autism in a family-based study.

Background: Impairments in social processes characterize one of the core deficits in autism spectrum disorders (ASD) and accumulating evidence suggests that oxytocin neurotransmission is implicated in mediating social adaptation in ASD. Using a mouse model, CD38, a transmembrane protein expressed in immune cells but also in brain, was found to be critical for social behavior via regulation of oxytocin secretion. This prompted us to both examine CD38 expression in human lymphoblastoid cell lines (LBC) as well as to test association between SNPs across the CD38 gene and ASD.

Changes in performance after implementation of a multifaceted electronic-health-record-based quality improvement system.

Background: Electronic health record (EHR) systems have the potential to revolutionize quality improvement (QI) methods by enhancing quality measurement and integrating multiple proven QI strategies.

Objectives: To implement and evaluate a multifaceted QI intervention using EHR tools to improve quality measurement (including capture of contraindications and patient refusals), make point-of-care reminders more accurate, and provide more valid and responsive clinician feedback (including lists of patients not receiving essential medications) for 16 chronic disease and preventive service measures.

Design: Time series analysis at a large internal medicine practice using a commercial EHR.

No evidence for involvement of sheep in the epidemiology of cattle virulent epizootic hemorrhagic disease virus.

Epizootic hemorrhagic disease virus (EHDV) is an Orbivirus. While not previously considered as an important disease in cattle, several EHDV serotypes (EHDV-6 and 7) have recently been implicated in disease outbreaks. The involvement of sheep in the epidemiology of EHDV is still not understood.