keyword
MENU ▼
Read by QxMD icon Read
search

Zellweger

keyword
https://read.qxmd.com/read/30746178/is-pneumonectomy-still-necessary
#1
EDITORIAL
Jean Yannis Perentes, Matthieu Zellweger, Michel Gonzalez
No abstract text is available yet for this article.
December 2018: Journal of Thoracic Disease
https://read.qxmd.com/read/30741398/risk-stratification-in-coronary-artery-disease-a-patient-tailored-approach-over-the-ischaemic-cascade
#2
Michael J Zellweger
Patient tailored diagnosis and risk stratification in patients with suspected or known coronary artery disease (CAD) are pivotal. At present, cardiac imaging modalities provide the possibility to evaluate the whole ischaemic cascade noninvasively. In asymptomatic patients, the evaluation of the calcium score may be beneficial and also guide the individual preventive strategy. Furthermore, the calcium score provides complimentary information to the information as assessed by functional testing. Coronary computed tomographic angiography (CCTA) is an excellent tool to exclude CAD, having a negative predictive value of 97–99%...
February 11, 2019: Swiss Medical Weekly
https://read.qxmd.com/read/30693370/metabolic-liver-diseases-presenting-with-neonatal-cholestasis-at-the-crossroad-between-old-and-new-paradigms
#3
Helena Moreira-Silva, Inês Maio, Anabela Bandeira, Esmeralda Gomes-Martins, Ermelinda Santos-Silva
Metabolic liver diseases (MLD) are an important group of disorders presenting with neonatal cholestasis (NC). The spectrum of liver involvement is wide and the presumptive diagnosis is traditionally based on clinical and laboratory findings. Recently, next-generation sequencing (NGS) panels have emerged as an appealing tool to diagnose neonatal/infantile cholestatic disorders. The aim of this study was to identify clinical phenotypes of liver injury and contribute to find a diagnostic methodology that integrates new molecular diagnostic tools...
January 28, 2019: European Journal of Pediatrics
https://read.qxmd.com/read/30656921/-peroxisomal-disorders
#4
Tresa J Stradomska
Peroxisomes are multifunctional microorganelles that play a key role in numerous biochemical processes adapting dynamically to the current physiological requirements of the cell. The disturbance of the peroxisome structure due to mutations in different PEX and non-PEX genes coding functional peroxisomal proteins is the pathogenic basis of the peroxisomal disorders. The β-oxidation process of very long-chain fatty acids (VLCFA) is a unique metabolic pathway located exclusively in the peroxisome. This determines that VLCFA is the main biomarker for the diagnosis of peroxisomal diseases...
December 29, 2018: Postepy Biochemii
https://read.qxmd.com/read/30651180/advances-in-microclimate-ecology-arising-from-remote-sensing
#5
REVIEW
Florian Zellweger, Pieter De Frenne, Jonathan Lenoir, Duccio Rocchini, David Coomes
Microclimates at the land-air interface affect the physiological functioning of organisms which, in turn, influences the structure, composition, and functioning of ecosystems. We review how remote sensing technologies that deliver detailed data about the structure and thermal composition of environments are improving the assessment of microclimate over space and time. Mapping landscape-level heterogeneity of microclimate advances our ability to study how organisms respond to climate variation, which has important implications for understanding climate-change impacts on biodiversity and ecosystems...
January 13, 2019: Trends in Ecology & Evolution
https://read.qxmd.com/read/30642745/towards-better-management-of-latent-tuberculosis-infection-in-children-and-young-adults-in-the-maghreb-conclusions-of-an-expert-meeting-paris-16-march-2018
#6
C Delacourt, J-P Zellweger
No abstract text is available yet for this article.
January 11, 2019: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://read.qxmd.com/read/30638572/picturing-health-living-with-bipolar-disorder
#7
Matthieu Zellweger
No abstract text is available yet for this article.
January 12, 2019: Lancet
https://read.qxmd.com/read/30581121/inhibition-of-mevalonate-pathway-prevents-adipocyte-browning-in-mice-and-men-by-affecting-protein-prenylation
#8
Miroslav Balaz, Anton S Becker, Lucia Balazova, Leon Straub, Julian Müller, Gani Gashi, Claudia Irene Maushart, Wenfei Sun, Hua Dong, Caroline Moser, Carla Horvath, Vissarion Efthymiou, Yael Rachamin, Salvatore Modica, Caroline Zellweger, Sara Bacanovic, Patrik Stefanicka, Lukas Varga, Barbara Ukropcova, Milan Profant, Lennart Opitz, Ez-Zoubir Amri, Murali K Akula, Martin Bergo, Jozef Ukropec, Christian Falk, Nicola Zamboni, Matthias Johannes Betz, Irene A Burger, Christian Wolfrum
Recent research focusing on brown adipose tissue (BAT) function emphasizes its importance in systemic metabolic homeostasis. We show here that genetic and pharmacological inhibition of the mevalonate pathway leads to reduced human and mouse brown adipocyte function in vitro and impaired adipose tissue browning in vivo. A retrospective analysis of a large patient cohort suggests an inverse correlation between statin use and active BAT in humans, while we show in a prospective clinical trial that fluvastatin reduces thermogenic gene expression in human BAT...
December 14, 2018: Cell Metabolism
https://read.qxmd.com/read/30561787/the-many-faces-of-peroxisomal-disorders-lessons-from-a-large-arab-cohort
#9
Jumanah Alshenaifi, Nour Ewida, Shams Anazi, Hanan E Shamseldin, Nisha Patel, Sateesh Maddirevula, Tarfa Al-Sheddi, Rana Alomar, Eman Alobeid, Niema Ibrahim, Mais Hashem, Firdous Abdulwahab, Minnie Jacob, Amal Alhashem, Hamad I Alzaidan, Mohammed Z Seidahmed, Nadia Alhashemi, Rifaat Rawashdeh, Wafaa Eyaid, Zuhair N Al-Hassnan, Zuhair Rahbeeni, Abdulrahman Alswaid, Adnan Hadid, Alya Qari, Dia A Mohammed, Heba Y El Khashab, Majid Alfadhel, Mohammad Abanemai, Rawda Sunbul, Saeed Al Tala, Salwa Alkhalifi, Turki Alkharfi, Mohamed Abouelhoda, Dorota Monies, Nada Al Tassan, Saud H AlDubayan, Wesam Kurdi, Mohammed Al-Owain, Majed J Dasouki, Amal Y Kentab, Suha Atyani, Nawal Makhseed, Eissa Faqeih, Ranad Shaheen, Fowzan S Alkuraya
Defects in the peroxisomes biogenesis and/or function result in peroxisomal disorders. In this study, we describe the largest Arab cohort to date (72 families) of clinically, biochemically and molecularly characterized patients with peroxisomal disorders. At the molecular level, we identified 43 disease-causing variants, half of which are novel. The founder nature of many of the variants allowed us to calculate the minimum disease burden for these disorders in our population ~1:30 000, which is much higher than previous estimates in other populations...
November 22, 2018: Clinical Genetics
https://read.qxmd.com/read/30505496/an-enhanced-recovery-after-surgery-program-for-video-assisted-thoracoscopic-surgery-anatomical-lung-resections-is-cost-effective
#10
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
https://read.qxmd.com/read/30446579/a-newly-identified-mutation-in-the-pex26-gene-is-associated-with-a-milder-type-of-zellweger-spectrum-disorder
#11
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
https://read.qxmd.com/read/30362618/zellweger-spectrum-disorder-patient-derived-fibroblasts-with-the-pex1-gly843asp-allele-recover-peroxisome-functions-in-response-to-flavonoids
#12
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
https://read.qxmd.com/read/30321230/tissue-microarray-analysis-delineate-potential-prognostic-role-of-annexin-a7-in-prostate-cancer-progression
#13
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
https://read.qxmd.com/read/30317186/neonatal-punctate-calcifications-associated-with-maternal-mixed-connective-tissue-disorder-mctd
#14
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
https://read.qxmd.com/read/30295825/application-of-machine-learning-algorithms-for-the-differential-diagnosis-of-peroxisomal-disorders
#15
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://read.qxmd.com/read/30289153/-the-importance-of-semiology-and-biochemistry-in-the-diagnostic-management-of-a-peroxisomal-biogenesis-disorder
#16
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://read.qxmd.com/read/30283784/changing-antimicrobial-resistance-trends-in-kathmandu-nepal-a-23-year-retrospective-analysis-of-bacteraemia
#17
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://read.qxmd.com/read/30273933/the-heart-in-systemic-lupus-erythematosus-a-comprehensive-approach-by-cardiovascular-magnetic-resonance-tomography
#18
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://read.qxmd.com/read/30272166/despite-some-caveats-a-normal-myocardial-perfusion-result-is-still-a-strong-value
#19
Michael J Zellweger
No abstract text is available yet for this article.
September 28, 2018: European Heart Journal Cardiovascular Imaging
https://read.qxmd.com/read/30266156/inborn-errors-of-bile-acid-metabolism
#20
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
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"