This is the RSS news feed of one of our preset news channels on LSIS - The Life Science Infromation Service. Please visit us to find a current view of this one and many more channels via our alerting push services: http://www.lsis.com/channels/?query=3 http://www.lsis.com/goto/r3/rss 2012-02-05T11:10:06+01:00 text/html http://www.ncbi.nlm.nih.gov NCBI PubMed http://www.lsis.com/channels/?query=3 OBJECTIVE: To determine if there is an association between cytokine and chemokine levels in plasma isolated from the placenta and HIV-1 mother-to-child transmission (MTCT). DESIGN: We designed a case-control study of HIV-infected, pregnant women enrolled in the Malaria and HIV in Pregnancy cohort. Participants were recruited in Blantyre, Malawi from 2000-04. Cases were women whose children were HIV-1 DNA-positive at birth (in utero MTCT) or HIV-1 DNA-negative at birth and HIV-1 DNA-positive (…) text/html http://www.ncbi.nlm.nih.gov NCBI PubMed http://www.lsis.com/channels/?query=3 To cite this article: Rancière F, Clarisse B, Nikasinovic L, Just J, Momas I. Cough and dyspnoea may discriminate allergic and infectious respiratory phenotypes in infancy. Pediatr Allergy Immunol 2012: doi: 10.1111/j.1399-3038.2011.01257.x. ABSTRACT: Asthma symptoms are non-specific during infancy, making the identification of different subgroups among preschool children with early respiratory manifestations an important challenge. We previously used a clustering approach to identify (…) text/html http://www.ncbi.nlm.nih.gov NCBI PubMed http://www.lsis.com/channels/?query=3 Millisecond pulsars are old neutron stars that have been spun up to high rotational frequencies via accretion of mass from a binary companion star. An important issue for understanding the physics of the early spin evolution of millisecond pulsars is the impact of the expanding magnetosphere during the terminal stages of the mass-transfer process. Here, I report binary stellar evolution calculations that show that the braking torque acting on a neutron star, when the companion star decouples (…) text/html http://www.ncbi.nlm.nih.gov NCBI PubMed http://www.lsis.com/channels/?query=3 ? Premise of the study: The common reed (Phragmites australis), one of the most widely distributed of all angiosperms, uses its rhizomes (underground stems) to invade new territory, making it one of the most successful weedy species worldwide. Characterization of the rhizome transcriptome and proteome is needed to identify candidate genes and proteins involved in rhizome growth, development, metabolism, and invasiveness.? Methods: We employed next-generation sequencing technologies (…) text/html http://www.ncbi.nlm.nih.gov NCBI PubMed http://www.lsis.com/channels/?query=3 The Patchliner temperature-controlled automated patch clamp system was evaluated for testing drug effects on potassium currents through human ether-à-go-go related gene (hERG) channels expressed in Chinese hamster ovary cells at 35-37°C. IC(50) values for a set of reference drugs were compared with those obtained using the conventional voltage clamp technique. The results showed good correlation between the data obtained using automated and conventional electrophysiology. Based on these (…) text/html http://www.ncbi.nlm.nih.gov NCBI PubMed http://www.lsis.com/channels/?query=3 NS5B is the RNA-dependent RNA polymerase responsible for replicating hepatitis C virus (HCV) genomic RNA. Despite more than a decade of work, the formation of a highly active NS5B polymerase-RNA complex suitable for mechanistic and structural studies has remained elusive. Here we report that through a novel way of optimizing initiation conditions, we were able to generate a productive NS5B/primer/template elongation complex stalled after formation of a 9-nucleotide primer. In contrast to (…) text/html http://www.ncbi.nlm.nih.gov NCBI PubMed http://www.lsis.com/channels/?query=3 Pain or skin irritation due to the femoral stump after proximal femoral resection for chronic spastic hip dislocation in children with severe cerebral palsy may be encountered. We describe a technique that, to our knowledge, has been unreported earlier and can deal with this phenomenon to improve the patient's comfort level and help the patient to sit more comfortably. |-| J Pediatr Orthop B. |-| Roche AJ, Davies GR, Sampath J. |-| Alder Hey Childrens NHS Foundation Trust, Liverpool, UK. text/html http://www.sciencedaily.com ScienceDaily http://www.lsis.com/channels/?query=3 ScienceDaily (Feb. 2, 2012) Pulsars are among the most exotic celestial bodies known. They have diameters of about 20 kilometres, but at the same time roughly the mass of our sun. A sugar-cube sized piece of its ultra-compact matter on Earth would weigh hundreds of millions of tons. A sub-class of them, known as millisecond pulsars, spin up to several hundred times per second around their own axes. Previous studies reached the paradoxical conclusion that some millisecond pulsars are older than (…) text/html http://www.ncbi.nlm.nih.gov NCBI PubMed http://www.lsis.com/channels/?query=3 Myocardial mononuclear cell infiltrate is a spontaneous cardiac finding commonly identified in laboratory cynomolgus monkeys. The infiltrates are predominantly composed of macrophages with lesser lymphocytes and are not typically associated with histologically detectable cardiomyocyte degeneration. These infiltrates are of concern because they confound interpretation of test article-related histopathology findings in nonclinical safety toxicology studies. The interpretation of safety studies (…) text/html http://www.ncbi.nlm.nih.gov NCBI PubMed http://www.lsis.com/channels/?query=3 Follicular lymphoma (FL) is an indolent, sometimes, fatal disease characterized by recurrence at progressively shorter intervals and is frequently refractive to therapy. Genome-wide association studies have identified single nucleotide polymorphisms (SNPs) in the human leukocyte antigen (HLA) region on chromosome 6p21.32-33 that are statistically significantly associated with FL risk. Low to medium resolution typing of single or multiple HLA genes has provided an incomplete picture of the (…) text/html http://www.ncbi.nlm.nih.gov NCBI PubMed http://www.lsis.com/channels/?query=3 This protocol describes a method to measure the enzymatic activity of molecular chaperones in a cell-based system and the possible effects of compounds with inhibitory/stimulating activity. Molecular chaperones are proteins involved in regulation of protein folding(1) and have a crucial role in promoting cell survival upon stress insults like heat shock(2), nutrient starvation and exposure to chemicals/poisons(3). For this reason chaperones are found to be involved in events like tumor (…) text/html http://www.ncbi.nlm.nih.gov NCBI PubMed http://www.lsis.com/channels/?query=3 We experimentally demonstrate that imaging of the degree of polarization (DOP) can be achieved from a single intensity image acquired under coherent illumination. This computational technique is based on the analysis of the speckle characteristics in a statistically homogeneous neighborhood of the pixel. Over a variety of samples obtained experimentally, we show that a simple calibration step allows this method to quickly and simply provide correct estimated values of the DOP, with precision (…) text/html http://www.ncbi.nlm.nih.gov NCBI PubMed http://www.lsis.com/channels/?query=3 Clinical and experimental studies pertinent for demonstrating the antipsychotic potential of benzodiazepines (BDZ) and the involvement of ?-aminobutyric acid (GABA) in the origin of schizophrenia are reviewed. It is shown that, due to severe methodological problems and pitfalls, placebo-controlled, double-blind studies do not permit unequivocal conclusions on the efficacy of BDZs, but neither do they completely disprove it. Furthermore, at first glance, confusing and controversial findings in (…) text/html http://www.ncbi.nlm.nih.gov NCBI PubMed http://www.lsis.com/channels/?query=3 BACKGROUND:Familial hypercholesterolemia (FH) is an autosomal dominant disorder that affects cholesterol metabolism and is an important risk factor for heart disease. Three different genes were causally linked to this disorder: LDLR (low density lipoprotein receptor), APOB [apolipoprotein B (including Ag(x) antigen)], and PCSK9 (proprotein convertase subtilisin/kexin type 9). We evaluated a new amplicon preparation tool for resequencing these genes on next generation sequencing (NGS) (…) text/html http://www.ncbi.nlm.nih.gov NCBI PubMed http://www.lsis.com/channels/?query=3 CONFERENCE PROCEEDING Proceedings of the PDA/FDA Adventitious Viruses in Biologics: Detection and Mitigation Strategies Workshop in Bethesda, MD, USA; December 1-3, 2010 Guest Editors: Arifa Khan (Bethesda, MD), Patricia Hughes (Bethesda, MD) and Michael Wiebe (San Francisco, CA) Genentech responded to a virus contamination in its biologics manufacturing facility by developing and implementing a series of barriers specifically designed to prevent recurrence of this significant and impactful (…) text/html http://www.ncbi.nlm.nih.gov NCBI PubMed http://www.lsis.com/channels/?query=3 Tamoxifen, a prodrug used for adjuvant breast cancer therapy, requires conversion to the active metabolite endoxifen through CYP 2D6. We aimed to construct an algorithm to predict endoxifen concentrations based on a patient's CYP 2D6 genotype, demographic factors, and co-medication use. Eighty-eight women enrolled in the UCSF TamGen II study and 81 women enrolled in a prospective study at Dana-Farber Cancer Institute were included in this analysis. All the women had been on tamoxifen for at (…) text/html http://www.ncbi.nlm.nih.gov NCBI PubMed http://www.lsis.com/channels/?query=3 BACKGROUND: In resource-limited settings (RLS) dried blood spots (DBS) are collected on infants and transported through provincial laboratories to a central facility where HIV-1 DNA PCR testing is performed using specialized equipment. Implementing a simpler approach not requiring such equipment or skilled personnel could allow the more numerous provincial laboratories to offer testing, improving turn-around-time to identify and treat infected infants sooner. OBJECTIVES: Assess performances of (…) text/html http://www.biospace.com BioSpace http://www.lsis.com/channels/?query=3 Halle, Germany, 2nd February 2012 This year, the newly-established Rainer Rudolph Foundation will be awarding prizes to young researchers who have completed an outstanding final thesis (Bachelor's, Master's, Diploma or Doctoral as well as cooperations between academia and industry) in the fields of protein biochemistry and biotechnology. Each of the Foundation s three prizes will be worth a total of ¬1,000 - applications should be submitted directly to the Foundation by 31st March 2012. The (…) text/html http://www.ncbi.nlm.nih.gov NCBI PubMed http://www.lsis.com/channels/?query=3 ABSTRACT: BACKGROUND: Sequencing projects using a clone-by-clone approach require the availability of a robust physical map. The SNaPshot technology, based on pair-wise comparisons of restriction fragments sizes, has been used recently to build the first physical map of a wheat chromosome and to complete the maize physical map. However, restriction fragments sizes shared randomly between two non-overlapping BACs often lead to chimerical contigs and mis-assembled BACs in such large and (…) text/html http://www.biospace.com BioSpace http://www.lsis.com/channels/?query=3 SAN DIEGO-(BUSINESS WIRE)-Illumina, Inc. (NASDAQ:ILMN) ( œthe Company ), a leading developer, manufacturer, and marketer of life science tools and integrated systems for the analysis of genetic variation and function, today confirmed that Roche (RHHBY.PK) has submitted a slate of four nominees for election to the Illumina Board of Directors at Illumina s 2012 Annual Meeting of Stockholders, and proposed five alternate nominees. text/html http://www.ncbi.nlm.nih.gov NCBI PubMed http://www.lsis.com/channels/?query=3 The incidence of adult brain cancer was shown to be higher in countries where the parasite Toxoplasma gondii is common, suggesting that this brain protozoan could potentially increase the risk of tumor formation. Using countries as replicates has, however, several potential confounding factors, particularly because detection rates vary with country wealth. Using an independent dataset entirely within France, we further establish the significance of the association between T. gondii and brain (…) text/html http://www.ncbi.nlm.nih.gov NCBI PubMed http://www.lsis.com/channels/?query=3 In the ANRS CO13 HEPAVIH Cohort, HCV RNA measurement was performed with one of the two available real-time PCR assays [Roche Cobas AmpliPrep-Cobas TaqMan HCV (CAP-CTM) and the Abbott Real-Time HCV (ART)], according to the assay used in each center. To comply with the recommendations for using the same assay in multicenter clinical trials, all the 204 samples analyzed with ART were retested retrospectively by CAP-CTM. The aim of this study was to assess the usefulness of this strategy in (…) text/html http://www.ncbi.nlm.nih.gov NCBI PubMed http://www.lsis.com/channels/?query=3 BACKGROUND: Erlotinib has been shown to improve progression-free survival compared with chemotherapy when given as first-line treatment for Asian patients with non-small-cell lung cancer (NSCLC) with activating EGFR mutations. We aimed to assess the safety and efficacy of erlotinib compared with standard chemotherapy for first-line treatment of European patients with advanced EGFR-mutation positive NSCLC. METHODS: We undertook the open-label, randomised phase 3 EURTAC trial at 42 hospitals in (…) text/html http://www.ncbi.nlm.nih.gov NCBI PubMed http://www.lsis.com/channels/?query=3 Several mechanisms mediate the regenerative and reparative capacity of stem cells, including cytokine secretion; therefore these cells can act as delivery systems of therapeutic molecules. Here we begin to address the molecular and cellular basis of their regenerative potential by characterizing the proteomic profile of human embryonic stem cells (hESCs), mesenchymal stem cells (hMSCs) and marrow isolated adult multilineage inducible (MIAMI) cells, followed by analysis of the secretory profile (…) text/html http://www.ncbi.nlm.nih.gov NCBI PubMed http://www.lsis.com/channels/?query=3 BACKGROUND: In this study, we evaluated the GeneXpert HemosIL Factor II and Factor V assay, an innovative assay for the detection of Factor V Leiden (FVL) and prothrombin G20210A mutation (GPRO). PATIENTS AND METHODS: We evaluated 132 patients that were previously classified (with a concordant result) using two commercial real-time PCR assays supplied, by Applied Biosystems and Roche Molecular Biochemicals. The cohort comprised 75 normal subjects, 10 FVL homozygous, 35 FVL heterozygous, 7 GPRO (…) text/html http://www.ncbi.nlm.nih.gov NCBI PubMed http://www.lsis.com/channels/?query=3 BACKGROUND: Successful microsurgical free tissue transfer for head and neck reconstruction highly depends on the quality of the recipient vessels. In most cases, vessels near the site of resection are available; however, when the bilateral vascular network in the neck is compromised or inaccessible due to prior surgery and/or irradiation, alternatives have to be sought. METHODS: Secondary or tertiary head and neck reconstruction was performed using the internal mammary vessels (IMVs) as (…) text/html http://www.biospace.com BioSpace http://www.lsis.com/channels/?query=3 Penzberg, Germany, January 31, 2012 / B3C newswire / - As of February 1, 2012, Dan Zabrowski is Head of Roche Applied Science in the Diagnostics Division, located in Penzberg, Germany. He succeeds Paul Brown who has led Roche Applied Science since September 2011. Dan Zabrowski will report to Daniel O Day, COO Roche Diagnostics. Dan recently served as Global Head of Roche Partnering and was a member of the Roche Corporate Executive Committee and Chugai Board. He joined Roche in 1994 through the (…) text/html http://www.biospace.com BioSpace http://www.lsis.com/channels/?query=3 LEXINGTON, Mass., Jan. 30, 2012 (GLOBE NEWSWIRE) - Curis, Inc. (Nasdaq:CRIS), a drug development company seeking to develop next generation targeted small molecule drug candidates for cancer treatment, today announced that Erivedge ¢ (vismodegib) capsule was approved by the U.S. Food and Drug Administration (FDA) for the treatment of adults with a type of skin cancer, called basal cell carcinoma, that has spread to other parts of the body or that has come back after surgery or that their (…) text/html http://www.biospace.com BioSpace http://www.lsis.com/channels/?query=3 Reno, Nevada and Branford, Connecticut, USA January 30, 2012 - Hamilton Robotics announced today a new automated solution for DNA sample enrichment on the MICROLAB STARlet Liquid Handling Workstation. Integrating Roche s REM e liquid handling system, the workflow solution enriches up to eight DNA samples for subsequent sequencing on the GS FLX System. The integrated system automates the multiple-step enrichment process, resulting in reduced variability, more consistent results and significant (…) text/html http://www.biospace.com BioSpace http://www.lsis.com/channels/?query=3 Roche Diagnostics, the diagnostic division of global healthcare company Roche, has planned to establish its Middle East regional headquarters at the Jebel Ali Free Zone, or Jafza, next month that will help the company to increase its market share in the region. The announcement was made on the sidelines of healthcare exhibition and medical congress Arab Health in Dubai. Although the company has been present in the region for more than 30 years, the regional headquarters in Jafza will be Roche (…) text/html http://www.ncbi.nlm.nih.gov NCBI PubMed http://www.lsis.com/channels/?query=3 Chronic coinfection with hepatitis C virus (HCV) and human immunodeficiency virus (HIV) is among the greatest challenges facing public health worldwide. In this population, the response to hepatitis C therapy by treatment with pegylated interferon plus ribavirin (PEG-IFN+RBV) is lower than in HCV-monoinfected patients, particularly in those infected by HCV genotype 1. A PKR/eIF-2? phosphorylation homology domain (PePHD) within the E2 protein has been found to interact with PKR and inhibit PKR (…) text/html http://www.ncbi.nlm.nih.gov NCBI PubMed http://www.lsis.com/channels/?query=3 We have previously shown that human papillomavirus (HPV) genotyping, using the cobas HPV Test (Roche Molecular Systems, Pleasanton, CA), can be used to identify women with atypical squamous cells of undetermined significance (ASC-US) at the highest risk for cervical intraepithelial neoplasia (CIN) grade 2 or worse. We investigated the impact of age stratification on the risk of CIN 2 or worse in women with ASC-US and the performance of HPV genotyping in different age strata. The sensitivity of (…) text/html http://www.ncbi.nlm.nih.gov NCBI PubMed http://www.lsis.com/channels/?query=3 Background. Metabolic acidosis (MA) at birth is commonly defined as umbilical cord arterial pH text/html http://www.ncbi.nlm.nih.gov NCBI PubMed http://www.lsis.com/channels/?query=3 BACKGROUND: Erlotinib, docetaxel, and pemetrexed are approved for the second-line treatment of non-small-cell lung cancer (NSCLC), but no head-to-head data from large clinical trials are available. We undertook the Tarceva In Treatment of Advanced NSCLC (TITAN) study to assess the efficacy and tolerability of second-line erlotinib versus chemotherapy in patients with refractory NSCLC. METHODS: TITAN was an international, randomised multicentre, open-label, phase 3 study that was done at 77 (…) text/html http://www.ncbi.nlm.nih.gov NCBI PubMed http://www.lsis.com/channels/?query=3 Adv Exp Med Biol. |-| Zimmermann BB, Roche-Labarbe N, Surova A, Boas DA, Wolf M, Grant PE, Franceschini MA. |-| Athinoula A. Martinos Center for Biomedical Imaging, Harvard Medical School, Massachusetts General Hospital, 13th Street, Building 149, Charlestown, MA, 02129, USA, bzim@mgh.harvard.edu. text/html http://www.ncbi.nlm.nih.gov NCBI PubMed http://www.lsis.com/channels/?query=3 ABSTRACT: BACKGROUND: Staphylococcus belongs to the Gram-positive low G+C content group of the Firmicutes division of bacteria. Staphylococcus aureus is an important human and veterinary pathogen that causes a broad spectrum of diseases, and has developed important multidrug resistant forms such as methicillin-resistant S. aureus (MRSA). Staphylococcus simiae was isolated from South American squirrel monkeys in 2000, and is a coagulase-negative bacterium, closely related, and possibly the (…) text/html http://www.ncbi.nlm.nih.gov NCBI PubMed http://www.lsis.com/channels/?query=3 Transforming growth factor-beta (TGF-?1) is implicated in the onset and progression of renal fibrosis and diabetic nephropathy (DN), leading to a loss of epithelial characteristics of tubular cells. The transcriptional profile of renal tubular epithelial cells stimulated with TGF-?1 was assessed using RNA-seq, with 2027 differentially expressed genes identified. Promoter analysis of transcription factor binding sites in the TGF-?1 responsive gene set predicted activation of multiple (…) text/html http://www.ncbi.nlm.nih.gov NCBI PubMed http://www.lsis.com/channels/?query=3 The term 'pharmacological promiscuity' describes the activity of a single compound against multiple targets. When undesired, promiscuity is a major safety concern that needs to be detected as early as possible in the drug discovery process. The analysis of large datasets reveals that the majority of promiscuous compounds are characterized by recognizable molecular properties and structural motifs, the most important one being a basic center with a pK(a)(B) 6. These compounds interact with a (…) text/html http://www.ncbi.nlm.nih.gov NCBI PubMed http://www.lsis.com/channels/?query=3 We show that a dimer made of two gold nanospheres exhibits a remarkable efficiency for second-harmonic generation under femtosecond optical excitation. The detectable nonlinear emission for the given particle size and excitation wavelength arises when the two nanoparticles are as close as possible to contact, as in situ controlled and measured using the tip of an atomic force microscope. The excitation wavelength dependence of the second-harmonic signal supports a coupled plasmon resonance (…) text/html http://www.ncbi.nlm.nih.gov NCBI PubMed http://www.lsis.com/channels/?query=3 The degradation of proteins by asparagine deamidation and aspartate isomerization is one of several chemical degradation pathways for recombinant antibodies. In this study, we have identified two solvent accessible degradation sites (light chain aspartate-56 and heavy chain aspartate-99/101) in the complementary-determining regions of a recombinant IgG1 antibody susceptible to isomerization under elevated temperature conditions. For both hot-spots, the degree of isomerization was found to be (…) text/html http://www.ncbi.nlm.nih.gov NCBI PubMed http://www.lsis.com/channels/?query=3 BACKGROUND: We compared the efficacy and safety of the addition of lapatinib versus trastuzumab to anthracycline-taxane-based neoadjuvant chemotherapy. METHODS: In the GeparQuinto randomised phase 3 trial, patients with untreated HER2-positive operable or locally advanced breast cancer were enrolled between Nov 7, 2007, and July 9, 2010. Patients were eligible if their tumours were classified as cT3/4a-d, or hormone receptor (HR)-negative, HR-positive with clinically node-positive and cT2 (…) text/html http://www.ncbi.nlm.nih.gov NCBI PubMed http://www.lsis.com/channels/?query=3 ABSTRACT: BACKGROUND: Next-Generation Sequencing (NGS) is increasingly being used as a molecular epidemiologic tool for discerning ancestry and traceback of the most complicated, difficult to resolve bacterial pathogens. Making a linkage between possible food sources and clinical isolates requires distinguishing the suspected pathogen from an environmental background and placing the variation observed into the wider context of variation occurring within a serovar and among other closely (…) text/html http://www.ncbi.nlm.nih.gov NCBI PubMed http://www.lsis.com/channels/?query=3 Reflex seizures are a rare phenomenon among epileptic patients, in which an epileptic discharge is triggered by various kinds of stimuli (visual, auditory, tactile or gustatory). Epilepsy is common in Rett syndrome patients (up to 70%), but to the authors' knowledge, no pressure or eating-triggered seizures have yet been reported in Rett children. We describe three epileptic Rett patients with reflex seizures, triggered by food intake or proprioception. One patient with congenital Rett Sd. (…) text/html http://www.ncbi.nlm.nih.gov NCBI PubMed http://www.lsis.com/channels/?query=3 The novel excipient, sodium N-[8-(2-hydroxybenzoyl)amino]caprylate (SNAC, CAS 203787-91-1) increases the oral bioavailability of co-formulated ibandronate (IBN, CAS 138926-19). The aim of this study was to investigate the effect of the IBN/SNAC formulation on the steady-state pharmacokinetics of metformin (CAS 657-24-9) and to assess safety and tolerability of IBN/SNAC when dosed in combination with metformin. Twenty-two healthy subjects received metformin on Days 1 to 6. On Day 7, subjects (…) text/html http://www.ncbi.nlm.nih.gov NCBI PubMed http://www.lsis.com/channels/?query=3 We have analysed the off-target activity of two siRNAs (F7-1, F7-2) that knock-down human blood coagulation factor 7 mRNA. F7-1 modulates a significant number of non-target transcripts while F7-2 shows high selectivity for the target transcript under various experimental conditions. The 3'-UTRs of all F7-1 off-target genes show statistically significant enrichment of the reverse complement of the F7-1 siRNA seed region located in the guide strand. Seed region enrichment was confirmed in (…) text/html http://www.ncbi.nlm.nih.gov NCBI PubMed http://www.lsis.com/channels/?query=3 Blood consists of different cell populations with distinct functions and correspondingly, distinct gene expression profiles. In this study, global miRNA expression profiling was performed across a panel of nine human immune cell subsets (neutrophils, eosinophils, monocytes, B cells, NK cells, CD4 T cells, CD8 T cells, mDCs and pDCs) to identify cell-type specific miRNAs. mRNA expression profiling was performed on the same samples to determine if miRNAs specific to certain cell types (…) text/html http://www.ncbi.nlm.nih.gov NCBI PubMed http://www.lsis.com/channels/?query=3 Citrin deficiency is an autosomal recessive disorder caused by mutations in the SLC25A13 gene and has two disease outcomes: adult-onset type II citrullinemia and neonatal intrahepatic cholestasis caused by citrin deficiency. The clinical appearance of these diseases is variable, ranging from almost no symptoms to coma, brain edema, and severe liver failure. Genetic testing for SLC25A13 mutations is essential for the diagnosis of citrin deficiency because chemical diagnoses are prohibitively (…) text/html http://www.ncbi.nlm.nih.gov NCBI PubMed http://www.lsis.com/channels/?query=3 BACKGROUND AND AIMS: CCAAT/enhancer-binding protein alpha (CEBPA) is a transcription factor involved in adipogenesis and energy homeostasis. Caloric restriction reduces CEBPA protein expression in patients with metabolic syndrome (MetS). A previous report linked rs12691 SNP in CEBPA to altered concentration of fasting triglycerides. Our objective was to assess the effects of rs12691 in glucose metabolism in Metabolic Syndrome (MetS) patients. METHODS AND RESULTS: Glucose metabolism was (…) text/html http://www.ncbi.nlm.nih.gov NCBI PubMed http://www.lsis.com/channels/?query=3 Cutaneous squamous-cell carcinomas and keratoacanthomas are common findings in patients treated with BRAF inhibitors. |-| N Engl J Med. |-| Su F, Viros A, Milagre C, Trunzer K, Bollag G, Spleiss O, Reis-Filho JS, Kong X, Koya RC, Flaherty KT, Chapman PB, Kim MJ, Hayward R, Martin M, Yang H, Wang Q, Hilton H, Hang JS, Noe J, Lambros M, Geyer F, Dhomen N, Niculescu-Duvaz I, Zambon A, Niculescu-Duvaz D, Preece N, Robert L, Otte NJ, Mok S, Kee D, Ma Y, Zhang C, Habets G, Burton EA, Wong B, Nguyen (…) text/html http://www.ncbi.nlm.nih.gov NCBI PubMed http://www.lsis.com/channels/?query=3 Central neurocytoma (CN) is a rare intraventricular tumor presenting a benign histologic appearance and favorable prognosis after surgery. In contrast, "atypical" CN is defined by a high MIB1 proliferation index and/or histologic features of malignancy, which are associated with a poorer outcome. This variant of CN remains somewhat controversial. To better characterize CN and its "atypical" variant, a retrospective multicenter study was conducted on 71 patients presenting with CN. A (…)