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Michel Gonzalez, Etienne Abdelnour-Berchtold, Jean Yannis Perentes, Valérie Doucet, Mathieu Zellweger, Carlos Marcucci, Hans-Beat Ris, Thorsten Krueger, Fabrizio Gronchi
Background: Enhanced recovery after surgery (ERAS) programs have been reported to decrease complications and shorten hospital stays after lung resections, but their implementation requires time and financial investment with dedicated staff. The aim of this study was to evaluate the clinical and economic outcomes of video-assisted thoracoscopic surgery (VATS) anatomical pulmonary resections before and after implementation of an ERAS program. Methods: The first 50 consecutive patients undergoing VATS lobectomy or segmentectomy for malignancy after implementation of an ERAS program were compared with 50 consecutive patients treated before its introduction...
October 2018: Journal of Thoracic Disease
Akemi Tanaka, Kanji Okumoto, Shigehiko Tamura, Yuichi Abe, Yoel Hirsch, Liyong Deng, Joseph Ekstein, Wendy K Chung, Yukio Fujiki
Using clinical exome sequencing (ES), we identified an autosomal recessive missense variant, c.153C>A (p.F51L), in the peroxisome biogenesis factor 26 gene ( PEX26 ) in a 19-year old female who was referred for moderate to severe hearing loss. The proband and three affected siblings are all homozygous for the c.153C>A variant. Skin fibroblasts from this patient show normal morphology in immunostaining of matrix proteins, although the level of catalase was elevated. Import rate of matrix proteins was significantly decreased in the patient-derived fibroblasts...
November 16, 2018: Cold Spring Harbor Molecular Case Studies
Gillian E MacLean, Catherine Argyriou, Erminia Di Pietro, Xuting Sun, Sara Birjandian, Panteha Saberian, Joseph G Hacia, Nancy E Braverman
Zellweger spectrum disorder (ZSD) results from biallelic mutations in PEX genes required for peroxisome biogenesis. PEX1-G843D is a common hypomorphic allele in the patient population that is associated with milder disease. In prior work using a PEX1-G843D/null patient fibroblast line expressing a green fluorescent protein (GFP) reporter with a peroxisome-targeting signal (GFP-PTS1), we demonstrated that treatments with the chemical chaperone betaine and flavonoid acacetin diacetate recovered peroxisome functions...
October 26, 2018: Journal of Cellular Biochemistry
Ximena Leighton, Alakesh Bera, Ofer Eidelman, Lukas Bubendorf, Tobias Zellweger, Jaideep Banerjee, Edward P Gelmann, Harvey B Pollard, Meera Srivastava
BACKGROUND: Annexin A7 (ANXA7) is a member of the multifunctional calcium or phospholipid-binding annexin gene family. While low levels of ANXA7 are associated with aggressive types of cancer, the clinical impact of ANXA7 in prostate cancer remains unclear. Tissue microarrays (TMA) have revealed several new molecular markers in human tumors. Herein, we have identified the prognostic impact of ANXA7 in a prostate cancer using a tissue microarray containing 637 different specimens. METHODS: The patients were diagnosed with prostate cancer and long-term follow-up information on progression (median 5...
2018: PloS One
Aakash Pandita, Astha Panghal, Girish Gupta, Vijay Singh
Chondrodysplasia punctate (CDP) is a rare group of disorders with both genetic and non-genetic underlying aetiologies. The genetic causes associated with CDP include peroxisomal disorders, type two mucolipidosis, type 3 mucopolysaccharidosis, GM1 gangliosidosis and chromosomal disorders. Peroxisomal disorders include deficiency of dihydroxyacetone phosphate acyltransferase, encoded by GNPAT, deficiency of the peroxisomal enzyme alkyl-dihydroxyacetone phosphate synthase, encoded by AGPS and Zellweger syndrome...
October 12, 2018: BMJ Case Reports
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
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
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
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
Michael J Zellweger
No abstract text is available yet for this article.
September 28, 2018: European Heart Journal Cardiovascular Imaging
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
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
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
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
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
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
Jean-Pierre Zellweger
No abstract text is available yet for this article.
October 2018: Lancet Infectious Diseases
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
BACKGROUND: 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...
November 2018: Clinical Chemistry
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
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
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