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https://www.readbyqxmd.com/read/30295825/application-of-machine-learning-algorithms-for-the-differential-diagnosis-of-peroxisomal-disorders
#1
Pammi Subhashini, Sampangi Jaya Krishna, Ganni Usha Rani, Nooguri Sushma Chander, Gummadi Maheshwar Reddy, Shaik Mohammad Naushad
We have established diagnostic thresholds of very long-chain fatty acids (VLCFA) for the differential diagnosis of peroxisomal disorders using the machine learning tools. The plasma samples of 131 controls and 90 cases were tested for VLCFA using Gas chromatography-Mass spectrometry following stable isotope dilution. This data was used to construct association rules and for recursive partitioning. The C26/22 in healthy controls ranged between 0.008 - 0.01. The C26 levels between 1.61 - 3.34 µmol/L and C26/C22 between 0...
October 8, 2018: Journal of Biochemistry
https://www.readbyqxmd.com/read/30289153/-the-importance-of-semiology-and-biochemistry-in-the-diagnostic-management-of-a-peroxisomal-biogenesis-disorder
#2
J E Cote-Orozco, O Y Echeverri-Pena, J M Guevara-Morales, E Espinosa
INTRODUCTION: Peroxisomal biogenesis disorders are due to mutations in the PEX genes, which code for peroxins that are required for peroxisomal biogenesis. Clinically, they are expressed as a Zellweger syndrome spectrum, and there is a wide phenotypic variety. They are diagnosed biochemically, and confirmation is molecular. The aim of this illustrative case is to highlight the importance of the clinical features and biochemical testing in the management of a peroxisomal disease. CASE REPORT: A 3-year-old boy with neonatal hypotonia, overall developmental delay and failure to thrive and a pattern of hypomyelinating leukodystrophy in brain resonance...
October 16, 2018: Revista de Neurologia
https://www.readbyqxmd.com/read/30283784/changing-antimicrobial-resistance-trends-in-kathmandu-nepal-a-23-year-retrospective-analysis-of-bacteraemia
#3
Raphaël M Zellweger, Buddha Basnyat, Poojan Shrestha, Krishna G Prajapati, Sabina Dongol, Paban K Sharma, Samir Koirala, Thomas C Darton, Christine Boinett, Corinne N Thompson, Guy E Thwaites, Stephen Baker, Abhilasha Karkey
A comprehensive longitudinal understanding of the changing epidemiology of the agents causing bacteraemia and their AMR profiles in key locations is crucial for assessing the progression and magnitude of the global AMR crisis. We performed a retrospective analysis of routine microbiological data from April 1992 to December 2014, studying the time trends of non- Salmonella associated bacteraemia at a single Kathmandu healthcare facility. The distribution of aetiological agents, their antimicrobial susceptibility profiles, and the hospital ward of isolation were assessed...
2018: Frontiers in Medicine
https://www.readbyqxmd.com/read/30273933/the-heart-in-systemic-lupus-erythematosus-a-comprehensive-approach-by-cardiovascular-magnetic-resonance-tomography
#4
Thilo Burkard, Marten Trendelenburg, Thomas Daikeler, Christoph Hess, Jens Bremerich, Philip Haaf, Peter Buser, Michael J Zellweger
BACKGROUND: In systemic lupus erythematosus (SLE), cardiac manifestations, e.g. coronary artery disease (CAD) and myocarditis are leading causes of morbidity and mortality. The prevalence of subclinical heart disease in SLE is unknown. We studied whether a comprehensive cardiovascular magnetic resonance (CMR) protocol may be useful for early diagnosis of heart disease in SLE patients without known CAD. METHODS: In this prospective, observational, cross-sectional study CMR including cine, late gadolinium enhancement (LGE) and stress perfusion sequences, ECG, and blood sampling were performed in 30 consecutive SLE patients without known CAD...
2018: PloS One
https://www.readbyqxmd.com/read/30272166/despite-some-caveats-a-normal-myocardial-perfusion-result-is-still-a-strong-value
#5
Michael J Zellweger
No abstract text is available yet for this article.
September 28, 2018: European Heart Journal Cardiovascular Imaging
https://www.readbyqxmd.com/read/30266156/inborn-errors-of-bile-acid-metabolism
#6
REVIEW
James E Heubi, Kenneth D R Setchell, Kevin E Bove
Inborn errors of bile acid metabolism are rare causes of neonatal cholestasis and liver disease in older children and adults. The diagnosis should be considered in the context of hyperbilirubinemia with normal serum bile acids and made by urinary liquid secondary ionization mass spectrometry or DNA testing. Cholic acid is an effective treatment of most single-enzyme defects and patients with Zellweger spectrum disorder with liver disease.
November 2018: Clinics in Liver Disease
https://www.readbyqxmd.com/read/30232794/health-seeking-behaviour-and-treatment-delay-in-patients-with-pulmonary-tuberculosis-in-switzerland-some-slip-through-the-net
#7
Christian Auer, Sabine Kiefer, Meike Zuske, Christian Schindler, Kaspar Wyss, Johannes Blum, Xavier Bosch-Capblanch, Ursula Widmer, Sonia Sauthier, Jean-Paul Janssens, Katharina Bossard, Christophe Chatonnet, Jesica Mazza-Stalder, Bea Začek, Jean-Pierre Zellweger, Ekkehardt Altpeter, Mirjam Mäusezahl
AIMS OF THE STUDY: To assess the health-seeking behaviour, the patient delay (onset of symptoms to first consultation) and the health system delay (first consultation to start of tuberculosis treatment) among patients with pulmonary tuberculosis (TB) diagnosed in Switzerland, and to assess the predictors of the various types of delay. METHODS: A survey among pulmonary TB patients was carried out in six cantons, covering 42% of all pulmonary adult TB cases notified in Switzerland...
August 27, 2018: Swiss Medical Weekly
https://www.readbyqxmd.com/read/30224891/a-clinical-case-of-zellweger-syndrome-in-a-patient-with-a-previous-history-of-ocular-medulloepithelioma
#8
Alberto Galvez-Ruiz, Alicia Galindo-Ferreiro, Hind Alkatan
Peroxisomal biogenesis disorders (PBDs) are autosomal recessive diseases caused by mutations in one of the 14 PEX genes described in the scientific literature. All of these syndromes may be associated with different mutations in the PEX genes, the most frequent being PEX1 for patients with Zellweger syndrome (ZS). In this paper, we present the case of a patient with a peculiar clinical history: evisceration of the left eye (LE) at 4 years of age because of a benign ocular teratoid medulloepithelioma and a progressive loss of visual acuity (VA) in the right eye (RE) beginning at 9 years of age, leading to the diagnosis of ZS...
July 2018: Saudi Journal of Ophthalmology: Official Journal of the Saudi Ophthalmological Society
https://www.readbyqxmd.com/read/30186946/self-evaluation-of-present-clinical-skills-by-medical-students-in-the-years-3-to-6-a-pilot-study-in-four-european-countries
#9
Leonard Westermann, Barbara Zisimidou, Marvin Simons, Rene Zellweger, Dominik Baschera
Background: Clinical training concepts of medical students differ in the various European countries. The goal of this paper is to study the differences at the beginning of medical practice in specific clinical skills on an international level. Methods: The data were collected by a publically accessible online questionnaire online from February to June 2010. The participants in the study were recruited through the official letter sent by deaneries and student organisations. Two thousand nine hundred and seven medical students participated in the online survey...
2018: GMS Journal for Medical Education
https://www.readbyqxmd.com/read/30184498/atr-mediated-global-fork-slowing-and-reversal-assist-fork-traverse-and-prevent-chromosomal-breakage-at-dna-interstrand-cross-links
#10
Karun Mutreja, Jana Krietsch, Jeannine Hess, Sebastian Ursich, Matteo Berti, Fabienne K Roessler, Ralph Zellweger, Malay Patra, Gilles Gasser, Massimo Lopes
Interstrand cross-links (ICLs) are toxic DNA lesions interfering with DNA metabolism that are induced by widely used anticancer drugs. They have long been considered absolute roadblocks for replication forks, implicating complex DNA repair processes at stalled or converging replication forks. Recent evidence challenged this view, proposing that single forks traverse ICLs by yet elusive mechanisms. Combining ICL immunolabeling and single-molecule approaches in human cells, we now show that ICL induction leads to global replication fork slowing, involving forks not directly challenged by ICLs...
September 4, 2018: Cell Reports
https://www.readbyqxmd.com/read/30174760/a-new-non-invasive-diagnostic-tool-in-coronary-artery-disease-artificial-intelligence-as-an-essential-element-of-predictive-preventive-and-personalized-medicine
#11
Michael J Zellweger, Andrew Tsirkin, Vasily Vasilchenko, Michael Failer, Alexander Dressel, Marcus E Kleber, Peter Ruff, Winfried März
Background: Known coronary artery disease (CAD) risk scores (e.g., Framingham) estimate the CAD-related event risk rather than presence/absence of CAD. Artificial intelligence (AI) is rarely used in this context. Aims: This study aims to evaluate the diagnostic power of AI (memetic pattern-based algorithm (MPA)) in CAD and to expand its applicability to a broader patient population. Methods and results: Nine hundred eighty-seven patients of the Ludwigshafen Risk and Cardiovascular Health Study (LURIC) were divided into a training ( n  = 493) and a test population ( n  = 494)...
September 2018: EPMA Journal
https://www.readbyqxmd.com/read/30174208/predicting-tuberculosis-the-blood-the-skin-or-the-sibyl
#12
Jean-Pierre Zellweger
No abstract text is available yet for this article.
October 2018: Lancet Infectious Diseases
https://www.readbyqxmd.com/read/30097496/direct-comparison-of-cardiac-troponin-t-and-i-using-a-uniform-and-a-sex-specific-approach-in-the-detection-of-functionally-relevant-coronary-artery-disease
#13
Deborah Mueller, Christian Puelacher, Ursina Honegger, Joan E Walter, Patrick Badertscher, Nicolas Schaerli, Ivo Strebel, Raphael Twerenbold, Jasper Boeddinghaus, Thomas Nestelberger, Christina Hollenstein, Jeanne du Fay de Lavallaz, Raban Jeger, Christoph Kaiser, Damian Wild, Katharina Rentsch, Andreas Buser, Michael Zellweger, Tobias Reichlin, Christian Mueller
BCKGROUND: We aimed to directly compare high-sensitivity cardiac troponin I (hs-cTnI) and high-sensitivity cardiac troponin T (hs-cTnT) in the detection of functionally relevant coronary artery disease (fCAD). METHODS: Consecutive patients referred with clinical suspicion of fCAD and no structural heart disease other than coronary artery disease were included. The presence of fCAD was based on rest/stress myocardial perfusion single-photon emission computed tomography/computed tomography and coronary angiography...
August 10, 2018: Clinical Chemistry
https://www.readbyqxmd.com/read/30094183/expanding-the-spectrum-of-pex16-mutations-and-novel-insights-into-disease-mechanisms
#14
Kishore R Kumar, Gautam Wali, Ryan L Davis, Amali C Mallawaarachchi, Elizabeth E Palmer, Velimir Gayevskiy, Andre E Minoche, David Veivers, Marcel E Dinger, Alan Mackay-Sim, Mark J Cowley, Carolyn M Sue
Zellweger syndrome spectrum disorders are caused by mutations in any of at least 12 different PEX genes. This includes PEX16 , an important regulator of peroxisome biogenesis. Using whole genome sequencing, we detected previously unreported, biallelic variants in PEX16 [NM_004813.2:c.658G>A, p.(Ala220Thr) and NM_004813.2:c.830G>A, p.(Arg277Gln)] in an individual with leukodystrophy, spastic paraplegia, cerebellar ataxia, and craniocervical dystonia with normal plasma very long chain fatty acids. Using olfactory-neurosphere derived cells, a population of neural stem cells, we showed patient cells had reduced peroxisome density and increased peroxisome size, replicating previously reported findings in PEX16 cell lines...
September 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/30087436/publisher-correction-cold-induced-epigenetic-programming-of-the-sperm-enhances-brown-adipose-tissue-activity-in-the-offspring
#15
Wenfei Sun, Hua Dong, Anton S Becker, Dianne H Dapito, Salvatore Modica, Gerald Grandl, Lennart Opitz, Vissarion Efthymiou, Leon G Straub, Gitalee Sarker, Miroslav Balaz, Lucia Balazova, Aliki Perdikari, Elke Kiehlmann, Sara Bacanovic, Caroline Zellweger, Daria Peleg-Raibstein, Pawel Pelczar, Wolf Reik, Irene A Burger, Ferdinand von Meyenn, Christian Wolfrum
In the version of this article originally published, the bars in the mean temperature graph in Fig. 1a were incorrectly aligned. The left-most bar should have been aligned with the Apr label on the projected month of conception axis. The error has been corrected in the print, PDF and HTML versions of this article.
August 7, 2018: Nature Medicine
https://www.readbyqxmd.com/read/30087435/author-correction-cold-induced-epigenetic-programming-of-the-sperm-enhances-brown-adipose-tissue-activity-in-the-offspring
#16
Wenfei Sun, Hua Dong, Anton S Becker, Dianne H Dapito, Salvatore Modica, Gerald Grandl, Lennart Opitz, Vissarion Efthymiou, Leon G Straub, Gitalee Sarker, Miroslav Balaz, Lucia Balazova, Aliki Perdikari, Elke Kiehlmann, Sara Bacanovic, Caroline Zellweger, Daria Peleg-Raibstein, Pawel Pelczar, Wolf Reik, Irene A Burger, Ferdinand von Meyenn, Christian Wolfrum
In the version of this article originally published, the months on the axis labeled projected month of conception in Fig. 1a were out of order. April and March should have been the first and last months listed, respectively. The error has been corrected in the print, PDF and HTML versions of this article.
August 7, 2018: Nature Medicine
https://www.readbyqxmd.com/read/30078639/atypical-pex16-peroxisome-biogenesis-disorder-with-mild-biochemical-disruptions-and-long-survival
#17
Nuha Al Zaabi, Anoud Kendi, Fatma Al-Jasmi, Shigeo Takashima, Nobuyuki Shimozawa, Osama Y Al-Dirbashi
BACKGROUND: Mutations in PEX16 cause peroxisome biogenesis disorder (PBD). Zellweger syndrome characterized by neurological dysfunction, dysmorphic features, liver disease and early death represents the severe end of this clinical spectrum. Here we discuss the diagnostic challenge of atypical PEX16 related PBD in 3 patients from highly inbred kindred and describe the role of specific metabolites analyses, fibroblasts studies, whole-exome sequencing (WES) and metabolomics profiling to establish the diagnosis...
August 2, 2018: Brain & Development
https://www.readbyqxmd.com/read/30078156/implementation-mechanisms-and-effects-of-maternity-protection-legislation-a-realist-narrative-review-of-the-literature
#18
REVIEW
Isabelle Probst, Alessia Zellweger, Maria-Pia Politis Mercier, Brigitta Danuser, Peggy Krief
PURPOSE: Most industrialized countries have introduced maternity protection legislation (MPL) to protect the health of pregnant workers and their unborn children from workplace exposure. This review aimed to assess this legislation's level of implementation, barriers and facilitators to it, and its expected or unexpected effects. METHODS: A realist narrative review was conducted. Keyword searches of the PubMed, CINAHL, PsycINFO, MIDIRS, Sociological abstracts and Google Scholar electronic databases were performed in March 2018...
November 2018: International Archives of Occupational and Environmental Health
https://www.readbyqxmd.com/read/30057520/long-term-cholic-acid-therapy-in-zellweger-spectrum-disorders
#19
James E Heubi, Kenneth D R Setchell, Kevin E Bove
Zellweger spectrum disorders (ZSDs), a subgroup of peroxisomal biogenesis disorders, have a generalized defect in peroxisome function. Liver disease in ZSDs has been linked to accumulation of C27 -bile acid intermediates due to the lack of peroxisomal β-oxidation of these intermediates to form primary C24 -bile acids. Oral treatment with primary bile acid, cholic acid (CA), inhibits formation of hepatotoxic C27 -bile acids by restoring normal physiologic feedback inhibition on bile acid synthesis. We present the long-term CA treatment and liver-related outcomes for 3 pediatric patients with ZSDs who have received CA treatment for ≥15 years...
May 2018: Case Reports in Gastroenterology
https://www.readbyqxmd.com/read/30031877/induction-of-peroxisomal-changes-in-oligodendrocytes-treated-with-7-ketocholesterol-attenuation-by-%C3%AE-tocopherol
#20
Thomas Nury, Randa Sghaier, Amira Zarrouk, Franck Ménétrier, Tugba Uzun, Valerio Leoni, Claudio Caccia, Wiem Meddeb, Amira Namsi, Khouloud Sassi, Wafa Mihoubi, Jean-Marc Riedinger, Mustapha Cherkaoui-Malki, Thibault Moreau, Anne Vejux, Gérard Lizard
The involvement of organelles in cell death is well established especially for endoplasmic reticulum, lysosomes and mitochondria. However, the role of the peroxisome is not well known, though peroxisomal dysfunction favors a rupture of redox equilibrium. To study the role of peroxisomes in cell death, 158 N murine oligodendrocytes were treated with 7-ketocholesterol (7 KC: 25-50 μM, 24 h). The highest concentration is known to induce oxiapoptophagy (OXIdative stress + APOPTOsis + autoPHAGY), whereas the lowest concentration does not induce cell death...
October 2018: Biochimie
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