keyword
MENU ▼
Read by QxMD icon Read
search

Zellweger

keyword
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
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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...
August 4, 2018: International Archives of Occupational and Environmental Health
https://www.readbyqxmd.com/read/30057520/long-term-cholic-acid-therapy-in-zellweger-spectrum-disorders
#7
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
#8
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...
July 19, 2018: Biochimie
https://www.readbyqxmd.com/read/30020559/domino-pd0-catalyzed-c-sp3-h-arylation-electrocyclic-reactions-via-benzazetidine-intermediates
#9
Ronan Rocaboy, David Dailler, Florian Zellweger, Markus Neuburger, Christophe Salomé, Eric Clot, Olivier Baudoin
The Pd0-catalyzed C(sp3)-H arylation of 2-bromo-N-methylanilides leads to unstable benzazetidine intermediates that rearrange to benzoxazines through 4π electrocyclic ring-opening and 6π electrocyclization. The introduction of a bulky, non-activable amide group on the nitrogen atom was key to favor the challenging reductive elimination step and disfavor undesired reaction pathways.
July 18, 2018: Angewandte Chemie
https://www.readbyqxmd.com/read/29991409/multidrug-resistant-tuberculosis-in-ukraine-what-is-hidden-behind-the-numbers
#10
J-P Zellweger
No abstract text is available yet for this article.
August 1, 2018: International Journal of Tuberculosis and Lung Disease
https://www.readbyqxmd.com/read/29988127/cold-induced-epigenetic-programming-of-the-sperm-enhances-brown-adipose-tissue-activity-in-the-offspring
#11
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
Recent research has focused on environmental effects that control tissue functionality and systemic metabolism. However, whether such stimuli affect human thermogenesis and body mass index (BMI) has not been explored. Here we show retrospectively that the presence of brown adipose tissue (BAT) and the season of conception are linked to BMI in humans. In mice, we demonstrate that cold exposure (CE) of males, but not females, before mating results in improved systemic metabolism and protection from diet-induced obesity of the male offspring...
July 9, 2018: Nature Medicine
https://www.readbyqxmd.com/read/29903801/protection-of-pregnant-women-at-work-in-switzerland-practices-obstacles-and-resources-a-mixed-methods-study-protocol
#12
Peggy Krief, Alessia Zellweger, Maria-Pia Politis Mercier, Brigitta Danuser, Pascal Wild, Michela Zenoni, Isabelle Probst
INTRODUCTION: Like most industrialised countries, Switzerland has introduced legislation to protect the health of pregnant workers and their unborn children from workplace exposure. This legislation provides for a risk assessment, adaptations to workplaces and, if the danger is not eliminated, preventive leave (prescribed by a gynaecologist). This study's first objective is to analyse the degree to which companies, gynaecologists and midwives implement the law. Its second objective is to understand the obstacles and resources of this implementation, with a focus on how relevant stakeholders perceive protective measures and their involvement with them...
June 14, 2018: BMJ Open
https://www.readbyqxmd.com/read/29891107/surgical-treatment-of-pulmonary-metastasis-in-colorectal-cancer-patients-current-practice-and-results
#13
REVIEW
Matthieu Zellweger, Etienne Abdelnour-Berchtold, Thorsten Krueger, Hans-Beat Ris, Jean Yannis Perentes, Michel Gonzalez
Colorectal cancer (CRC) is a frequently occurring disease, yet diagnosed at a local stage in only 40% of cases. Lung metastases (LM) appear in 5-15% of patients and, left untreated, carry a very poor prognosis. Some CRC patients may benefit from a potentially curative LM resection, but success and benefit are difficult to predict. We discuss prognostic factors of survival after lung metastasectomy in CRC patients under several scenarios (with/ without prior liver metastases; repetitive pulmonary resections)...
July 2018: Critical Reviews in Oncology/hematology
https://www.readbyqxmd.com/read/29773809/super-resolution-imaging-reveals-the-sub-diffraction-phenotype-of-zellweger-syndrome-ghosts-and-wild-type-peroxisomes
#14
Kareem Soliman, Fabian Göttfert, Hendrik Rosewich, Sven Thoms, Jutta Gärtner
Peroxisomes are ubiquitous cell organelles involved in many metabolic and signaling functions. Their assembly requires peroxins, encoded by PEX genes. Mutations in PEX genes are the cause of Zellweger Syndrome spectrum (ZSS), a heterogeneous group of peroxisomal biogenesis disorders (PBD). The size and morphological features of peroxisomes are below the diffraction limit of light, which makes them attractive for super-resolution imaging. We applied Stimulated Emission Depletion (STED) microscopy to study the morphology of human peroxisomes and peroxisomal protein localization in human controls and ZSS patients...
May 17, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29766340/the-cholic-acid-extension-study-in-zellweger-spectrum-disorders-results-and-implications-for-therapy
#15
Femke C C Klouwer, Bart G P Koot, Kevin Berendse, Elles M Kemper, Sacha Ferdinandusse, Kiran V K Koelfat, Martin Lenicek, Frédéric M Vaz, Marc Engelen, Peter L M Jansen, Ronald J A Wanders, Hans R Waterham, Frank G Schaap, Bwee Tien Poll-The
INTRODUCTION: Currently, no therapies are available for Zellweger spectrum disorders (ZSDs), a group of genetic metabolic disorders characterised by a deficiency of functional peroxisomes. In a previous study, we showed that oral cholic acid (CA) treatment can suppress bile acid synthesis in ZSD patients and, thereby, decrease plasma levels of toxic C27 -bile acid intermediates, one of the biochemical abnormalities in these patients. However, no effect on clinically relevant outcome measures could be observed after 9 months of CA treatment...
May 15, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29749261/analysis-of-drug-drug-interactions-in-swiss-claims-data-using-tizanidine-and-ciprofloxacin-as-a-prototypical-contraindicated-combination
#16
Annika M Jödicke, Ivanka Curkovic, Urs Zellweger, Ivan T Tomka, Thomas Neuer, Gerd A Kullak-Ublick, Malgorzata Roos, Marco Egbring
BACKGROUND: Potential drug-drug interactions (pDDIs) are described in various case reports, but few studies have evaluated the impact of specific combinations on a population level. OBJECTIVE: To analyze the type and frequency of multiple contraindicated (X-pDDIs) and major interactions (D-pDDIs) and to subsequently assess the impact of the particular combination of tizanidine and ciprofloxacin on outpatient physician visits and hospitalizations. METHODS: Anonymized Swiss claims data from 524 797 patients in 2014-2015 were analyzed...
May 1, 2018: Annals of Pharmacotherapy
https://www.readbyqxmd.com/read/29739811/tel1-atm-prevents-degradation-of-replication-forks-that-reverse-after-topoisomerase-poisoning
#17
Luca Menin, Sebastian Ursich, Camilla Trovesi, Ralph Zellweger, Massimo Lopes, Maria Pia Longhese, Michela Clerici
In both yeast and mammals, the topoisomerase poison camptothecin (CPT) induces fork reversal, which has been proposed to stabilize replication forks, thus providing time for the repair of CPT-induced lesions and supporting replication restart. We show that Tel1, the Saccharomyces cerevisiae orthologue of human ATM kinase, stabilizes CPT-induced reversed forks by counteracting their nucleolytic degradation by the MRX complex. Tel1-lacking cells are hypersensitive to CPT specifically and show less reversed forks in the presence of CPT The lack of Mre11 nuclease activity restores wild-type levels of reversed forks in CPT-treated tel1 Δ cells without affecting fork reversal in wild-type cells...
July 2018: EMBO Reports
https://www.readbyqxmd.com/read/29724998/il-3-but-not-monomeric-ige-regulates-fc%C3%AE%C2%B5ri-levels-and-cell-survival-in-primary-human-basophils
#18
Fabian Zellweger, Patrick Buschor, Gabriel Hobi, Daniel Brigger, Clemens Andreas Dahinden, Peter Matthias Villiger, Alexander Eggel
Binding of allergen-specific IgE to its primary receptor FcεRI on basophils and mast cells represents a central event in the development of allergic diseases. The high-affinity interaction between IgE and FcεRI results in permanent sensitization of these allergic effector cells and critically regulates their release of pro-inflammatory mediators upon IgE cross-linking by allergens. In addition, binding of monomeric IgE has been reported to actively regulate FcεRI surface levels and promote survival of mast cells in the absence of allergen through the induction of autocrine cytokine secretion including interleukin-3 (IL-3)...
May 1, 2018: Cell Death & Disease
https://www.readbyqxmd.com/read/29673342/medical-end-of-life-practices-in-swiss-cultural-regions-a-death-certificate-study
#19
Samia A Hurst, Ueli Zellweger, Georg Bosshard, Matthias Bopp
BACKGROUND: End-of-life decisions remain controversial. Switzerland, with three main languages shared with surrounding countries and legal suicide assistance, allows exploration of the effects of cultural differences on end-of-life practices within the same legal framework. METHODS: We conducted a death certificate study on a nationwide continuous random sample of Swiss residents. Using an internationally standardized tool, we sent 4998, 2965, and 1000 anonymous questionnaires to certifying physicians in the German-, French-, and Italian-speaking regions...
April 20, 2018: BMC Medicine
https://www.readbyqxmd.com/read/29667014/automatically-computed-ecg-algorithm-for-the-quantification-of-myocardial-scar-and-the-prediction-of-mortality
#20
Patrick Badertscher, Ivo Strebel, Ursina Honegger, Nicolas Schaerli, Deborah Mueller, Christian Puelacher, Max Wagener, Roger Abächerli, Joan Walter, Zaid Sabti, Lorraine Sazgary, Stella Marbot, Jeanne du Fay de Lavallaz, Raphael Twerenbold, Jasper Boeddinghaus, Thomas Nestelberger, Nikola Kozhuharov, Tobias Breidthardt, Samyut Shrestha, Dayana Flores, Carmela Schumacher, Damian Wild, Stefan Osswald, Michael J Zellweger, Christian Mueller, Tobias Reichlin
BACKGROUND: Myocardial scar is associated with adverse cardiac outcomes. The Selvester QRS-score was developed to estimate myocardial scar from the 12-lead ECG, but its manual calculation is difficult. An automatically computed QRS-score would allow identification of patients with myocardial scar and an increased risk of mortality. OBJECTIVES: To assess the diagnostic and prognostic value of the automatically computed QRS-score. METHODS: The diagnostic value of the QRS-score computed automatically from a standard digital 12-lead was prospectively assessed in 2742 patients with suspected myocardial ischemia referred for myocardial perfusion imaging (MPI)...
April 17, 2018: Clinical Research in Cardiology: Official Journal of the German Cardiac Society
keyword
keyword
160992
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"