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https://www.readbyqxmd.com/read/29770739/-express-novel-ntrk1-mutations-in-chinese-patients-with-congenital-insensitivity-to-pain-with-anhidrosis
#1
Xingzhu Geng, Yanshan Liu, Xiuzhi Ren, Yun Guan, Yanzhou Wang, Bin Mao, Xiuli Zhao, Xue Zhang
Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive disorder, characterized by loss of algesthesis and inability to sweat. CIPA is known to be caused by mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1). However, the details of NTRK1 mutations in Chinese CIPA patients remain unclear. In the present study, we recruited 36 CIPA patients from 34 unrelated families in mainland China. Blood samples from these patients and their available familial members were collected and subjected to genetic analysis...
January 1, 2018: Molecular Pain
https://www.readbyqxmd.com/read/29728448/the-temperature-dependence-of-kinetics-associated-with-drug-block-of-herg-channels-are-compound-specific-and-an-important-factor-for-proarrhythmic-risk-prediction
#2
Monique J Windley, William Lee, Jamie I Vandenberg, Adam P Hill
Current mandated preclinical tests for drug induced proarrhythmia are very sensitive, but not sufficiently specific. This has led to concern that there is a high attrition rate of potentially safe drugs that could have been beneficial to patients. The comprehensive in vitro pro-arrhythmia (CiPA) initiative has proposed new metrics based around in silico risk predictions, which are informed, amongst other things, by measures of hERG block kinetics. However, high throughput patch-clamp systems set to collect this data largely operate at ambient temperature, while the simulations for risk prediction are carried out at physiological temperature...
May 4, 2018: Molecular Pharmacology
https://www.readbyqxmd.com/read/29718449/cross-site-reliability-of-human-induced-pluripotent-stem-cell-derived-cardiomyocyte-based-safety-assays-using-microelectrode-arrays-results-from-a-blinded-cipa-pilot-study
#3
Daniel Millard, Qianyu Dang, Hong Shi, Xiaou Zhang, Chris Strock, Udo Kraushaar, Haoyu Zeng, Paul Levesque, Hua-Rong Lu, Jean-Michel Guillon, Joseph C Wu, Yingxin Li, Greg Luerman, Blake Anson, Liang Guo, Mike Clements, Yama A Abassi, James Ross, Jennifer Pierson, Gary Gintant
Recent in vitro cardiac safety studies demonstrate the ability of human induced pluripotent stem cell-derived cardiomyocytes (hiPSC-CMs) to detect electrophysiologic effects of drugs. However, variability contributed by unique approaches, procedures, cell lines and reagents across laboratories makes comparisons of results difficult, leading to uncertainty about the role of hiPSC-CMs in defining proarrhythmic risk in drug discovery and regulatory submissions. A blinded pilot study was conducted to evaluate the electrophysiologic effects of eight well-characterized drugs on four cardiomyocyte lines using a standardized protocol across three microelectrode array (MEA) platforms (18 individual studies)...
April 27, 2018: Toxicological Sciences: An Official Journal of the Society of Toxicology
https://www.readbyqxmd.com/read/29619836/phenotypic-heterogeneity-of-intellectual-disability-in-patients-with-congenital-insensitivity-to-pain-with-anhidrosis-a-case-report-and-literature-review
#4
Zhenlei Liu, Jiaqi Liu, Gang Liu, Wenjian Cao, Sen Liu, Yixin Chen, Yuzhi Zuo, Weisheng Chen, Jun Chen, Yu Zhang, Shishu Huang, Guixing Qiu, Philip F Giampietro, Feng Zhang, Zhihong Wu, Nan Wu
Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive heterogeneous disorder mainly caused by mutations in the neurotrophic tyrosine receptor kinase 1 gene ( NTRK1) and characterized by insensitivity to noxious stimuli, anhidrosis, and intellectual disability. We herein report the first north Han Chinese patient with CIPA who exhibited classic phenotypic features and severe intellectual disability caused by a homozygous c.851-33T>A mutation of NTRK1, resulting in aberrant splicing and an open reading frame shift...
January 1, 2018: Journal of International Medical Research
https://www.readbyqxmd.com/read/29595626/a-case-of-congenital-insensitivity-to-pain-with-anhidrosis-comorbid-with-attention-deficit-hyperactivity-disorder-clinical-implications-for-pathophysiology-and-treatment
#5
Elham Shirazi, Shirin Sayyahfar, Mahtab Motamed, Javad Alaghband-Rad
Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive genetic disorder caused by a mutation in the neurotrophic tyrosine kinase receptor (NTRK1) gene. CIPA is accompanied by abnormal catecholamine metabolism and decreased blood concentration of dopamine and norepinephrine. Attention deficit hyperactivity disorder (ADHD) is a neurodevelopmental disorder of heterogeneous etiology and presentation, and recent reports have suggested a pathophysiological role of neurotrophins in ADHD...
April 2018: Journal of Nervous and Mental Disease
https://www.readbyqxmd.com/read/29588538/campylobacter-jejuni-transcriptional-and-genetic-adaptation-during-human-infection
#6
Alexander A Crofts, Frédéric M Poly, Cheryl P Ewing, Janelle M Kuroiwa, Joanna E Rimmer, Clayton Harro, David Sack, Kawsar R Talaat, Chad K Porter, Ramiro L Gutierrez, Barbara DeNearing, Jessica Brubaker, Renée M Laird, Alexander C Maue, Kayla Jaep, Ashley Alcala, David R Tribble, Mark S Riddle, Amritha Ramakrishnan, Andrea J McCoy, Bryan W Davies, Patricia Guerry, M Stephen Trent
Campylobacter jejuni infections are a leading cause of bacterial food-borne diarrhoeal illness worldwide, and Campylobacter infections in children are associated with stunted growth and therefore long-term deficits into adulthood. Despite this global impact on health and human capital, how zoonotic C. jejuni responds to the human host remains unclear. Unlike other intestinal pathogens, C. jejuni does not harbour pathogen-defining toxins that explicitly contribute to disease in humans. This makes understanding Campylobacter pathogenesis challenging and supports a broad examination of bacterial factors that contribute to C...
April 2018: Nature Microbiology
https://www.readbyqxmd.com/read/29484688/moving-beyond-the-comprehensive-in-vitro-proarrhythmia-assay-use-of-human-induced-pluripotent-stem-cell-derived-cardiomyocytes-to-assess-contractile-effects-associated-with-drug-induced-structural-cardiotoxicity
#7
REVIEW
Xi Yang, Thomas Papoian
Drug-induced cardiotoxicity is a potentially severe side effect that can adversely affect myocardial contractility through structural or electrophysiological changes in cardiomyocytes. Human-induced pluripotent stem cell-derived cardiomyocytes (hiPSC-CMs) are a promising human cardiac in vitro model system to assess both proarrhythmic and non-proarrhythmic cardiotoxicity of new drug candidates. The scalable differentiation of hiPSCs into cardiomyocytes provides a renewable cell source that overcomes species differences present in current animal models of drug toxicity testing...
February 27, 2018: Journal of Applied Toxicology: JAT
https://www.readbyqxmd.com/read/29407522/ngf-dependent-neurons-and-neurobiology-of-emotions-and-feelings-lessons-from-congenital-insensitivity-to-pain-with-anhidrosis
#8
REVIEW
Yasuhiro Indo
NGF is a well-studied neurotrophic factor, and TrkA is a receptor tyrosine kinase for NGF. The NGF-TrkA system supports the survival and maintenance of NGF-dependent neurons during development. Congenital insensitivity to pain with anhidrosis (CIPA) is an autosomal recessive genetic disorder due to loss-of-function mutations in the NTRK1 gene encoding TrkA. Individuals with CIPA lack NGF-dependent neurons, including NGF-dependent primary afferents and sympathetic postganglionic neurons, in otherwise intact systems...
April 2018: Neuroscience and Biobehavioral Reviews
https://www.readbyqxmd.com/read/29368583/determination-of-quinolone-residues-in-raw-cow-milk-application-of-polar-stir-bars-and-ultra-high-performance-liquid-chromatography-tandem-mass-spectrometry
#9
Rocío Rodríguez-Gómez, María Teresa García-Córcoles, Morsina Çipa, Dolores Barrón, Alberto Navalón, Alberto Zafra-Gómez
Seventeen quinolone antibiotics were determined in cows' milk. A method of high sensitivity, selectivity and accuracy was developed. Accuracy (trueness and precision), linearity, sensitivity, selectivity, decision limit and detection capability were established following the recommendations of the Commission Decision 2002/657/EC and the Food and Drug Administration (FDA) guideline. The use of polar stir-bar sorptive extraction (SBSE) prior to UHPLC-MS/MS analysis is proposed. The variables that affect SBSE were optimized using multivariate optimization strategies...
January 25, 2018: Food Additives & Contaminants. Part A, Chemistry, Analysis, Control, Exposure & Risk Assessment
https://www.readbyqxmd.com/read/29326077/mechanism-of-nanoparticle-induced-hypersensitivity-in-pigs-complement-or-not-complement
#10
János Szebeni
A recent study on nanoparticle-induced hypersensitivity reactions in pigs showed robust pulmonary intravascular macrophage clearance of Polybead® carboxylate microspheres in mediating the adverse cardiopulmonary distress, irrespective of the ability of these particles to activate the complement (C) system in vitro. Focusing on this observation, this article highlights the controversies in projecting in vitro C assay data to in vivo conditions and applying data on polystyrene particles to therapeutic nanopharmaceuticals...
March 2018: Drug Discovery Today
https://www.readbyqxmd.com/read/29209226/uncertainty-quantification-reveals-the-importance-of-data-variability-and-experimental-design-considerations-for-in-silico-proarrhythmia-risk-assessment
#11
Kelly C Chang, Sara Dutta, Gary R Mirams, Kylie A Beattie, Jiansong Sheng, Phu N Tran, Min Wu, Wendy W Wu, Thomas Colatsky, David G Strauss, Zhihua Li
The Comprehensive in vitro Proarrhythmia Assay (CiPA) is a global initiative intended to improve drug proarrhythmia risk assessment using a new paradigm of mechanistic assays. Under the CiPA paradigm, the relative risk of drug-induced Torsade de Pointes (TdP) is assessed using an in silico model of the human ventricular action potential (AP) that integrates in vitro pharmacology data from multiple ion channels. Thus, modeling predictions of cardiac risk liability will depend critically on the variability in pharmacology data, and uncertainty quantification (UQ) must comprise an essential component of the in silico assay...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/29201009/-in-vitro-and-in-silico-risk-assessment-in-acquired-long-qt-syndrome-the-devil-is-in-the-details
#12
REVIEW
William Lee, Monique J Windley, Jamie I Vandenberg, Adam P Hill
Acquired long QT syndrome, mostly as a result of drug block of the Kv11. 1 potassium channel in the heart, is characterized by delayed cardiac myocyte repolarization, prolongation of the T interval on the ECG, syncope and sudden cardiac death due to the polymorphic ventricular arrhythmia Torsade de Pointes (TdP). In recent years, efforts are underway through the Comprehensive in vitro proarrhythmic assay (CiPA) initiative, to develop better tests for this drug induced arrhythmia based in part on in silico simulations of pharmacological disruption of repolarization...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/29155283/comparative-analysis-of-media-effects-on-human-induced-pluripotent-stem-cell-derived-cardiomyocytes-in-proarrhythmia-risk-assessment
#13
Derek Schocken, Jayna Stohlman, Jose Vicente, Dulciana Chan, Dakshesh Patel, Murali Krishna Matta, Vikram Patel, Mathew Brock, Daniel Millard, James Ross, David G Strauss, Ksenia Blinova
INTRODUCTION: Cardiotoxicity assessment using human induced pluripotent stem cell-derived cardiomyocytes (iPSC-CMs) forms a key component of the Comprehensive in Vitro Proarrhythmia Assay (CiPA). A potentially impactful factor on iPSC-CM testing is the presence of serum in the experimental media. Generally, serum-free media is used to most accurately reproduce "free" drug concentration. However, caution is needed; drug solubility and cardiomyocyte electrophysiology could be affected by media formulation, potentially impacting interpretation of drug-induced effects...
March 2018: Journal of Pharmacological and Toxicological Methods
https://www.readbyqxmd.com/read/29142767/could-congenital-insensitivity-to-pain-with-anhidrosis-be-misdiagnosed-as-papillon-lef%C3%A3-vre-syndrome
#14
Mostafa Ibrahim Mostafa, Maha Rashed Abouzaid, Manal Micheal Thomas, Ghada Yousef El-Kamah
Papillon-Lefèvre syndrome (PLS) is a rare autosomal recessive disorder characterized by early loss of teeth with hyperkeratosis of the palms and soles. Congenital insensitivity to pain with anhidrosis (CIPA) is a disorder of decreased pain sensation, decreased sweating, recurrent infections, and fever. Here, we report a 5-year-old girl born to consanguineous parents with a family history of a similarly affected sibling. The girl presented with early loss of teeth and palmoplantar hyperkeratosis, hence, provisionally diagnosed as PLS...
December 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/29142185/anesthesia-procedure-for-congenital-insensitivity-to-pain-in-a-child-with-anhidrosis-syndrome-a-rare-case
#15
Aykut Urfalioglu, Mahmut Arslan, Yakup Duman, Gökce Gisi, Gözen Oksuz, Hüseyin Yildiz, Hafize Oksuz, Ayşe Balaban
Congenital insensitivity to pain with anhidrosis (CIPA) syndrome is a neuropathy characterized by insensitivity to pain, impaired thermoregulation, anhidrosis, and mental retardation. A 9-year old boy with CIPA syndrome, underwent 2 operations for a calcaneal ulcer. During the first operation standard monitorization was performed. In the second operation, Bispectral Index (BIS) monitoring was added and temperature was monitored with an esophageal probe. In the first operation, in which anesthesia induction was applied with ketamine and midazolam, extremity movements with surgical stimuli were seen...
2017: Journal of Nippon Medical School, Nippon Ika Daigaku Zasshi
https://www.readbyqxmd.com/read/29136846/determination-of-bisphenols-with-estrogenic-activity-in-plastic-packaged-baby-food-samples-using-solid-liquid-extraction-and-clean-up-with-dispersive-sorbents-followed-by-gas-chromatography-tandem-mass-spectrometry-analysis
#16
M T García-Córcoles, M Cipa, R Rodríguez-Gómez, A Rivas, F Olea-Serrano, J L Vílchez, A Zafra-Gómez
Bisphenols (BPs) are a family of chemicals with known endocrine disrupting activity. Bisphenol A (BPA) is the most representative prototype of this group of chemicals. Recently, the use of BPA, a prototype of endocrine disruptors, has been reduced and replaced with structural analogs due to its negative effects on both the environment and consumers. In this work, a new method is presented for the determination of seven BPs, with estrogenic activity in ready-to-eat plastic packaged baby foods. The procedure involves the isolation of the analytes using solid-liquid phase extraction with acetonitrile followed by a clean-up step with a mixture of dispersive-SPE sorbents (C18 and PSA) and magnesium sulphate, to reduce matrix effect from proteins, sugars and lipids...
February 1, 2018: Talanta
https://www.readbyqxmd.com/read/29075324/comparative-characterization-of-all-cellulosomal-cellulases-from-clostridium-thermocellum-reveals-high-diversity-in-endoglucanase-product-formation-essential-for-complex-activity
#17
Benedikt Leis, Claudia Held, Fabian Bergkemper, Katharina Dennemarck, Robert Steinbauer, Alarich Reiter, Matthias Mechelke, Matthias Moerch, Sigrid Graubner, Wolfgang Liebl, Wolfgang H Schwarz, Vladimir V Zverlov
BACKGROUND: Clostridium thermocellum is a paradigm for efficient cellulose degradation and a promising organism for the production of second generation biofuels. It owes its high degradation rate on cellulosic substrates to the presence of supra-molecular cellulase complexes, cellulosomes, which comprise over 70 different single enzymes assembled on protein-backbone molecules of the scaffold protein CipA. RESULTS: Although all 24 single-cellulosomal cellulases were described previously, we present the first comparative catalogue of all these enzymes together with a comprehensive analysis under identical experimental conditions, including enzyme activity, binding characteristics, substrate specificity, and product analysis...
2017: Biotechnology for Biofuels
https://www.readbyqxmd.com/read/29061979/hipsc-cm-monolayer-maturation-state-determines-drug-responsiveness-in-high-throughput-pro-arrhythmia-screen
#18
André Monteiro da Rocha, Katherine Campbell, Sergey Mironov, Jiang Jiang, Lakshmi Mundada, Guadalupe Guerrero-Serna, José Jalife, Todd J Herron
Human induced pluripotent stem cell derived cardiomyocytes (hiPSC-CMs) offer a novel in vitro platform for pre-clinical cardiotoxicity and pro-arrhythmia screening of drugs in development. To date hiPSC-CMs used for cardiotoxicity testing display an immature, fetal-like cardiomyocyte structural and electrophysiological phenotype which has called into question the applicability of hiPSC-CM findings to the adult heart. The aim of the current work was to determine the effect of cardiomyocyte maturation state on hiPSC-CM drug responsiveness...
October 23, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29021091/an-evaluation-of-multiple-algorithms-for-the-measurement-of-the-heart-rate-corrected-jtpeak-interval
#19
Jean-Philippe Couderc, Shiyang Ma, Alex Page, Connor Besaw, Jean Xia, W Brian Chiu, Johan de Bie, Jose Vicente, Martino Vaglio, Fabio Badilini, Saeed Babaeizadeh, Cheng-Hao Simon Chien, Mathias Baumert
Interest in the effects of drugs on the heart rate-corrected JTpeak (JTpc) interval from the body-surface ECG has spawned an increasing number of scientific investigations in the field of regulatory sciences, and more specifically in the context of the Comprehensive in vitro Proarrhythmia Assay (CiPA) initiative. We conducted a novel initiative to evaluate the role of automatic JTpc measurement technologies by comparing their ability to distinguish multi- from single-channel blocking drugs. A set of 5232 ECGs was shared by the FDA (through the Telemetric and Holter ECG Warehouse) with 3 ECG device companies (AMPS, Mortara, and Philips)...
November 2017: Journal of Electrocardiology
https://www.readbyqxmd.com/read/28986934/mechanistic-model-informed-proarrhythmic-risk-assessment-of-drugs-review-of-the-cipa-initiative-and-design-of-a-prospective-clinical-validation-study
#20
REVIEW
Jose Vicente, Robbert Zusterzeel, Lars Johannesen, Jay Mason, Philip Sager, Vikram Patel, Murali K Matta, Zhihua Li, Jiang Liu, Christine Garnett, Norman Stockbridge, Issam Zineh, David G Strauss
The Comprehensive in vitro Proarrhythmia Assay (CiPA) initiative is developing and validating a mechanistic-based assessment of the proarrhythmic risk of drugs. CiPA proposes to assess a drug's effect on multiple ion channels and integrate the effects in a computer model of the human cardiomyocyte to predict proarrhythmic risk. Unanticipated or missed effects will be assessed with human stem cell-derived cardiomyocytes and electrocardiogram (ECG) analysis in early phase I clinical trials. This article provides an overview of CiPA and the rationale and design of the CiPA phase I ECG validation clinical trial, which involves assessing an additional ECG biomarker (J-Tpeak) for QT prolonging drugs...
January 2018: Clinical Pharmacology and Therapeutics
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