keyword
https://read.qxmd.com/read/37397070/managing-thyroid-cancer-in-steinert-s-disease-the-role-of-radiofrequency-ablation
#21
Paola Solis-Pazmino, Mishel A Carvajal, Mikaela García, Richard Godoy, Camila Pazmino-Chavez, Cristhian Garcia
Radiofrequency ablation (RFA) is a minimally invasive, non-surgical technique used to treat benign or microcarcinoma thyroid nodules (TN) that provides an alternative for patients considered high-risk candidates for surgery. Myotonic dystrophy type 1 (DM1), also known as Steinert's Disease, is a multisystem disorder that affects various organs and tissues, including the thyroid. In this case, we presented a male patient diagnosed with DM1 who incidentally discovered a left TN with features indicative of thyroid cancer...
June 2023: Journal of Surgical Case Reports
https://read.qxmd.com/read/37306961/egr2-gene-linked-hereditary-neuropathies-present-with-a-bimodal-age-distribution-at-symptoms-onset
#22
Andoni Echaniz-Laguna, Cécile Cauquil, Jean-Baptiste Chanson, Céline Tard, Lucie Guyant-Marechal, Thierry Kuntzer, Ioana Maria Ion, Anne-Sophie Lia, Jérôme Bouligand, Vianney Poinsignon
BACKGROUND: Mutations in the Early-Growth Response 2 (EGR2) gene cause various hereditary neuropathies, including demyelinating Charcot-Marie-Tooth (CMT) disease type 1D (CMT1D), congenital hypomyelinating neuropathy type 1 (CHN1), Déjerine-Sottas syndrome (DSS), and axonal CMT (CMT2). METHODS: In this study, we identified 14 patients with heterozygous EGR2 mutations diagnosed between 2000 and 2022. RESULTS: Mean age was 44 years (15-70), 10 patients were female (71%), and mean disease duration was 28 years (1-56)...
June 12, 2023: Journal of the Peripheral Nervous System: JPNS
https://read.qxmd.com/read/37301506/challenging-the-disease-esophageal-achalasia-type-ii-in-a-patient-with-myotonic-dystrophy-type-1
#23
Elena Pérez Campos, Ana Delgado Maroto, José López González
No abstract text is available yet for this article.
June 8, 2023: Gastroenterología y Hepatología
https://read.qxmd.com/read/37250120/wrist-ballistocardiography-and-invasively-recorded-blood-pressure-in-healthy-volunteers-during-reclining-bike-exercise
#24
JOURNAL ARTICLE
Torjus L Steffensen, Filip E Schjerven, Hans M Flade, Idar Kirkeby-Garstad, Emma Ingeström, Fredrik S Solberg, Martin Steinert
Objective: Ballistocardiogram (BCG) features are of interest in wearable cardiovascular monitoring of cardiac performance. We assess feasibility of wrist acceleration BCG during exercise for estimating pulse transit time (PTT), enabling broader cardiovascular response studies during acute exercise and improved monitoring in individuals at risk for cardiovascular disease (CVD). We also examine the relationship between PTT, blood pressure (BP), and stroke volume (SV) during exercise and posture interventions...
2023: Frontiers in Physiology
https://read.qxmd.com/read/37104170/redox-mechanisms-and-their-pathological-role-in-prion-diseases-the-road-to-ruin
#25
JOURNAL ARTICLE
Jereme G Spiers, Hsiao-Jou Cortina Chen, Joern R Steinert
Prion diseases, also known as transmissible spongiform encephalopathies, are rare, progressive, and fatal neurodegenerative disorders, which are caused by the accumulation of the misfolded cellular prion protein (PrPC). The resulting cytotoxic prion species, referred to as the scrapie prion isoform (PrPSc), assemble in aggregates and interfere with neuronal pathways, ultimately rendering neurons dysfunctional. As the prion protein physiologically interacts with redox-active metals, an altered redox balance within the cell can impact these interactions, which may lead to and facilitate further misfolding and aggregation...
April 2023: PLoS Pathogens
https://read.qxmd.com/read/37065553/narrowing-the-therapeutic-window-a-case-control-study-on-the-influence-of-the-covid-19-pandemic-on-the-primary-uicc-stage-of-nsclc
#26
JOURNAL ARTICLE
Isabella B Metelmann, Sebastian Kraemer, Matthias Steinert, Stephan Kersting, Alexandra Busemann
BACKGROUND: General clinical perception suggests a decline in the diagnosis and treatment of lung cancer during the SARS-CoV-2 pandemic. Early diagnosis of non-small cell lung cancer (NSCLC) is crucial in therapeutic regimes as early stages are potentially curable by operation alone or with combined therapy. Pandemic-triggered overload of the healthcare system may have prolonged the diagnosis of NSCLC, possibly leading to higher tumor stages at first diagnosis. This study aims to identify how COVID-19 affected the distribution of the Union for International Cancer Control (UICC) stage in NSCLC at first diagnosis...
March 31, 2023: Journal of Thoracic Disease
https://read.qxmd.com/read/36985310/-legionella-pneumophila-and-free-living-nematodes-environmental-co-occurrence-and-trophic-link
#27
JOURNAL ARTICLE
Christin Hemmerling, Aurélie Labrosse, Liliane Ruess, Michael Steinert
Free-living nematodes harbor and disseminate various soil-borne bacterial pathogens. Whether they function as vectors or environmental reservoirs for the aquatic L. pneumophila , the causative agent of Legionnaires' disease, is unknown. A survey screening of biofilms of natural (swimming lakes) and technical (cooling towers) water habitats in Germany revealed that nematodes can act as potential reservoirs, vectors or grazers of L. pneumophila in cooling towers. Consequently, the nematode species Plectus similis and L...
March 13, 2023: Microorganisms
https://read.qxmd.com/read/36936764/protein-sociology-of-proa-mip-and-other-secreted-virulence-factors-at-the-legionella-pneumophila-surface
#28
REVIEW
Lina Scheithauer, Mustafa Safa Karagöz, Benjamin E Mayer, Michael Steinert
The pathogenicity of L. pneumophila , the causative agent of Legionnaires' disease, depends on an arsenal of interacting proteins. Here we describe how surface-associated and secreted virulence factors of this pathogen interact with each other or target extra- and intracellular host proteins resulting in host cell manipulation and tissue colonization. Since progress of computational methods like AlphaFold, molecular dynamics simulation, and docking allows to predict, analyze and evaluate experimental proteomic and interactomic data, we describe how the combination of these approaches generated new insights into the multifaceted "protein sociology" of the zinc metalloprotease ProA and the peptidyl-prolyl cis/trans isomerase Mip (macrophage infectivity potentiator)...
2023: Frontiers in Cellular and Infection Microbiology
https://read.qxmd.com/read/36926383/triose-phosphate-isomerase-deficiency-is-associated-with-a-dysregulation-of-synaptic-vesicle-recycling-in-drosophila-melanogaster
#29
JOURNAL ARTICLE
Aelfwin Stone, Oliver Cujic, Angel Rowlett, Sophia Aderhold, Emma Savage, Bruce Graham, Joern R Steinert
INTRODUCTION: Numerous neurodegenerative diseases are associated with neuronal dysfunction caused by increased redox stress, often linked to aberrant production of redox-active molecules such as nitric oxide (NO) or oxygen free radicals. One such protein affected by redox-mediated changes is the glycolytic enzyme triose-phosphate isomerase (TPI), which has been shown to undergo 3-nitrotyrosination (a NO-mediated post-translational modification) rendering it inactive. The resulting neuronal changes caused by this modification are not well understood...
2023: Frontiers in Synaptic Neuroscience
https://read.qxmd.com/read/36924931/real-world-data-showing-trends-and-outcomes-by-race-and-ethnicity-in-allogeneic-hematopoietic-cell-transplantation-a-report-from-the-center-for-international-blood-and-marrow-transplant-research
#30
JOURNAL ARTICLE
Jeffery J Auletta, Jianqun Kou, Min Chen, Yung-Tsi Bolon, Larisa Broglie, Caitrin Bupp, Debra Christianson, Rachel N Cusatis, Steven M Devine, Mary Eapen, Kathryn E Flynn, Mehdi Hamadani, Mary Hengen, Stephanie J Lee, Amy Moskop, Kristin M Page, Marcelo C Pasquini, Waleska S Perez, Rachel Phelan, Marcie L Riches, J Douglas Rizzo, Wael Saber, Stephen R Spellman, Heather E Stefanski, Patricia Steinert, Eileen Tuschl, Rafeek Yusuf, Mei-Jie Zhang, Bronwen E Shaw
BACKGROUND: Use of human leukocyte antigen (HLA)-mismatched donors could enable more patients with ethnically diverse backgrounds to receive allogeneic hematopoietic cell transplantation (HCT) in the United States. However, real-world trends and outcomes following mismatched donor HCT for diverse patients remain largely undefined. OBJECTIVE: To determine whether mismatched donor platforms have increased access to allogeneic HCT for ethnically diverse patients, particularly through the application of novel graft-versus-host disease (GvHD) prophylaxis regimens, and if outcomes for diverse patients were comparable to those of non-Hispanic White patients...
March 14, 2023: Transplantation and cellular therapy
https://read.qxmd.com/read/36913483/a-water-soluble-tomato-extract-rich-in-secondary-plant-metabolites-lowers-trimethylamine-n-oxide-and-modulates-gut-microbiota-a-randomized-double-blind-placebo-controlled-cross-over-study-in-overweight-and-obese-adults
#31
RANDOMIZED CONTROLLED TRIAL
Ateequr Rehman, Susan M Tyree, Sophie Fehlbaum, Gillian DunnGalvin, Charalampos G Panagos, Bertrand Guy, Shriram Patel, Timothy G Dinan, Asim K Duttaroy, Ruedi Duss, Robert E Steinert
BACKGROUND: Natural products rich in polyphenols have been shown to lower plasma trimethylamine-n-oxide (TMAO) known for its proatherogenic effects by modulating the intestinal microbiota. OBJECTIVES: We aimed to determine the impact of Fruitflow, a water-soluble tomato extract, on TMAO, fecal microbiota, and plasma and fecal metabolites. METHODS: Overweight and obese adults (n = 22, BMI 28-35 kg/m2 ) were included in a double-blind, placebo-controlled, cross-over study receiving 2×150 mg Fruitflow per day or placebo (maltodextrin) for 4 wk with a 6-week wash-out between interventions...
January 2023: Journal of Nutrition
https://read.qxmd.com/read/36897899/covid-19-and-myotonic-dystrophy-case-reports-and-systematic-review
#32
JOURNAL ARTICLE
Maria Mazzitelli, Marco Trevenzoli, Monica Brundu, Giulia Squarzoni, Anna Maria Cattelan
INTRODUCTION: Steinert's disease is a rare genetic disorder characterized by progressive myotonia and multi-organ damage. It is associated with respiratory and cardiological complications often leading patients to exitus. These conditions are also traditional risk factors for severe COVID-19. SARS-CoV-2 has affected people with chronic diseases, but the impact on people with Steinert's disease is poorly defined, with only a few reported and described. More data are needed to understand whether this genetic disease is a risk factor for more serious evolution or death in patients with COVID-19...
February 28, 2023: Journal of Infection in Developing Countries
https://read.qxmd.com/read/36892629/periostin-as-a-blood-biomarker-of-muscle-cell-fibrosis-cardiomyopathy-and-disease-severity-in-myotonic-dystrophy-type-1
#33
JOURNAL ARTICLE
Chi D L Nguyen, Aura Cecilia Jimenez-Moreno, Monika Merker, Charles Joseph Bowers, Nikoletta Nikolenko, Andreas Hentschel, Thomas Müntefering, Angus Isham, Tobias Ruck, Matthias Vorgerd, Vera Dobelmann, Genevieve Gourdon, Ulrike Schara-Schmidt, Andrea Gangfuss, Charlotte Schröder, Albert Sickmann, Claudia Gross, Grainne Gorman, Werner Stenzel, Laxmikanth Kollipara, Denisa Hathazi, Sally Spendiff, Cynthia Gagnon, Corinna Preusse, Elise Duchesne, Hanns Lochmüller, Andreas Roos
BACKGROUND AND PURPOSE: Myotonic dystrophy type 1 (DM1) is the most common form of adult-onset muscular dystrophy and is caused by an repeat expansion [r(CUG)exp ] located in the 3' untranslated region of the DMPK gene. Symptoms include skeletal and cardiac muscle dysfunction and fibrosis. In DM1, there is a lack of established biomarkers in routine clinical practice. Thus, we aimed to identify a blood biomarker with relevance for DM1-pathophysiology and clinical presentation. METHODS: We collected fibroblasts from 11, skeletal muscles from 27, and blood samples from 158 DM1 patients...
March 9, 2023: Journal of Neurology
https://read.qxmd.com/read/36868541/compartment-specific-mitochondrial-dysfunction-in-drosophila-knock-in-model-of-als-reversed-by-altered-gene-expression-of-oxphos-subunits-and-pro-fission-factor-drp1
#34
JOURNAL ARTICLE
Y Nemtsova, B L Steinert, K A Wharton
Amyotrophic Lateral Sclerosis (ALS) is a fatal multisystem neurodegenerative disease, characterized by a loss in motor function. ALS is genetically diverse, with mutations in genes ranging from those regulating RNA metabolism, like TAR DNA-binding protein (TDP-43) and Fused in sarcoma (FUS), to those that act to maintain cellular redox homeostasis, like superoxide dismutase 1 (SOD1). Although varied in genetic origin, pathogenic and clinical commonalities are clearly evident between cases of ALS. Defects in mitochondria is one such common pathology, thought to occur prior to, rather than as a consequence of symptom onset, making these organelles a promising therapeutic target for ALS, as well as other neurodegenerative diseases...
March 1, 2023: Molecular and Cellular Neurosciences
https://read.qxmd.com/read/36838414/comparative-genomics-of-legionella-pneumophila-isolates-from-the-west-bank-and-germany-support-molecular-epidemiology-of-legionnaires-disease
#35
JOURNAL ARTICLE
Ashraf R Zayed, Dina M Bitar, Michael Steinert, Christian Lück, Cathrin Spröer, Ingrid Brettar, Manfred G Höfle, Boyke Bunk
Legionella pneumophila is an environmental bacterium and clinical pathogen that causes many life-threating outbreaks of an atypical pneumonia called Legionnaires' disease (LD). Studies of this pathogen have focused mainly on Europe and the United States. A shortage in L. pneumophila data is clearly observed for developing countries. To reduce this knowledge gap, L. pneumophila isolates were studied in two widely different geographical areas, i.e., the West Bank and Germany. For this study, we sequenced and compared the whole genome of 38 clinical and environmental isolates of L...
February 10, 2023: Microorganisms
https://read.qxmd.com/read/36768526/fluid-biomarkers-of-central-nervous-system-cns-involvement-in-myotonic-dystrophy-type-1-dm1
#36
REVIEW
Salvatore Rossi, Gabriella Silvestri
Myotonic dystrophy type 1 (DM1), commonly known as Steinert's disease (OMIM #160900), is the most common muscular dystrophy among adults, caused by an unstable expansion of a CTG trinucleotide repeat in the 3' untranslated region (UTR) of DMPK . Besides skeletal muscle, central nervous system (CNS) involvement is one of the core manifestations of DM1, whose relevant cognitive, behavioral, and affective symptoms deeply affect quality of life of DM1 patients, and that, together with muscle and heart, may profoundly influence the global disease burden and overall prognosis...
January 22, 2023: International Journal of Molecular Sciences
https://read.qxmd.com/read/36698751/whole-genome-sequencing-of-the-clinical-isolate-of-legionella-pneumophila-alaw1-from-the-west-bank-allows-high-resolution-typing-and-determination-of-pathogenicity-mechanisms
#37
Ashraf R Zayed, Boyke Bunk, Lina Jaber, Hadeel Abu-Teer, Mousa Ali, Michael Steinert, Manfred G Höfle, Ingrid Brettar, Dina M Bitar
BACKGROUND: Legionella pneumophila is water-based bacterium causing Legionnaires' disease (LD). We describe the first documented case of nosocomial LD caused by L. pneumophila sequence type (ST) 461 and serogroup 6. The etiology of LD was confirmed by culturing the bronchoalveolar lavage sample retrieving L. pneumophila strain ALAW1. A 7-days treatment of the LD patient with Azithromycin and Levofloxacin allowed complete recovery. METHODS: In details, we sequenced the whole genome of the L...
2023: European Clinical Respiratory Journal
https://read.qxmd.com/read/36626954/editorial-nitric-oxide-signaling-from-synapse-to-disease
#38
EDITORIAL
Haitham Amal, Joern R Steinert
No abstract text is available yet for this article.
January 7, 2023: Free Radical Biology & Medicine
https://read.qxmd.com/read/36624106/apremilast-prevents-blistering-in-human-epidermis-and-stabilizes-keratinocyte-adhesion-in-pemphigus
#39
JOURNAL ARTICLE
Anna M Sigmund, Markus Winkler, Sophia Engelmayer, Daniela Kugelmann, Desalegn T Egu, Letyfee S Steinert, Michael Fuchs, Matthias Hiermair, Mariya Y Radeva, Franziska C Bayerbach, Elisabeth Butz, Stefan Kotschi, Christoph Hudemann, Michael Hertl, Sunil Yeruva, Enno Schmidt, Amir S Yazdi, Kamran Ghoreschi, Franziska Vielmuth, Jens Waschke
Pemphigus vulgaris is a life-threatening blistering skin disease caused by autoantibodies destabilizing desmosomal adhesion. Current therapies focus on suppression of autoantibody formation and thus treatments directly stabilizing keratinocyte adhesion would fulfill an unmet medical need. We here demonstrate that apremilast, a phosphodiesterase 4 inhibitor used in psoriasis, prevents skin blistering in pemphigus vulgaris. Apremilast abrogates pemphigus autoantibody-induced loss of keratinocyte cohesion in ex-vivo human epidermis, cultured keratinocytes in vitro and in vivo in mice...
January 9, 2023: Nature Communications
https://read.qxmd.com/read/36555146/a-greek-national-cross-sectional-study-on-myotonic-dystrophies
#40
JOURNAL ARTICLE
Georgios K Papadimas, Constantinos Papadopoulos, Kyriaki Kekou, Chrisoula Kartanou, Athina Kladi, Evangelia Nitsa, Christalena Sofocleous, Evangelia Tsanou, Ioannis Sarmas, Stefania Kaninia, Elisabeth Chroni, Georgios Tsivgoulis, Vasilios Kimiskidis, Marianthi Arnaoutoglou, Leonidas Stefanis, Marios Panas, Georgios Koutsis, Georgia Karadima, Joanne Traeger-Synodinos
Myotonic Dystrophies (DM, Dystrophia Myotonia) are autosomal dominant inherited myopathies with a high prevalence across different ethnic regions. Despite some differences, mainly due to the pattern of muscle involvement and the age of onset, both forms, DM1 and DM2, share many clinical and genetic similarities. In this study, we retrospectively analyzed the medical record files of 561 Greek patients, 434 with DM1 and 127 with DM2 diagnosed in two large academic centers between 1994-2020. The mean age at onset of symptoms was 26...
December 7, 2022: International Journal of Molecular Sciences
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