keyword
https://read.qxmd.com/read/38473913/hemochromatosis-ferroptosis-ros-gut-microbiome-and-clinical-challenges-with-alcohol-as-confounding-variable
#1
REVIEW
Rolf Teschke
Hemochromatosis represents clinically one of the most important genetic storage diseases of the liver caused by iron overload, which is to be differentiated from hepatic iron overload due to excessive iron release from erythrocytes in patients with genetic hemolytic disorders. This disorder is under recent mechanistic discussion regarding ferroptosis, reactive oxygen species (ROS), the gut microbiome, and alcohol abuse as a risk factor, which are all topics of this review article. Triggered by released intracellular free iron from ferritin via the autophagic process of ferritinophagy, ferroptosis is involved in hemochromatosis as a specific form of iron-dependent regulated cell death...
February 25, 2024: International Journal of Molecular Sciences
https://read.qxmd.com/read/37725003/genetic-screening-for-hereditary-transthyretin-amyloidosis-with-polyneuropathy-in-western-sicily-two-years-of-experience-in-a-neurological-clinic
#2
JOURNAL ARTICLE
Vincenzo Di Stefano, Antonino Lupica, Paolo Alonge, Antonia Pignolo, Sofia Maria Augello, Francesca Gentile, Andrea Gagliardo, Francesca Giglia, Daniele Brinch, Maria Cappello, Daniela Di Lisi, Giuseppina Novo, Eugenia Borgione, Carmela Scuderi, Filippo Brighina
BACKGROUND AND PURPOSE: Hereditary transthyretin amyloidosis with polyneuropathy (ATTRv-PN) is caused by mutations in the TTR gene, leading to misfolded monomers that aggregate generating amyloid fibrils. METHODS: A prospective systematic genetic screening for ATTRv-PN was proposed in patients presenting with a sensory-motor idiopathic polyneuropathy and two or more "red flags" among the following: family history of polyneuropathy or cardiopathy, bilateral carpal tunnel syndrome, cardiac insufficiency, renal amyloidosis, lumbar tract stenosis, autonomic dysfunction, idiopathic gastrointestinal disease, amyloid deposits on biopsy, and vitreous opacities...
September 19, 2023: European Journal of Neurology
https://read.qxmd.com/read/37641552/predicting-risk-of-af-in-ischaemic-stroke-using-sinus-rhythm-ecg-abnormalities-a-meta-analysis
#3
JOURNAL ARTICLE
Alexander Berry-Noronha, Luke Bonavia, Duncan Wilson, Antti Eranti, Maria Uggen Rasmussen, Ahmad Sajadieh, Fabienne Kreimer, Michael Gotzmann, Ramesh Sahathevan
OBJECTIVE: To identify ECG changes in sinus rhythm that may be used to predict subsequent development of new AF. METHOD: We identified prospective and retrospective cohort or case control studies evaluating ECG patterns from a 12-lead ECG in sinus rhythm taken in hospital or community predicting subsequent development of new AF. For each identified ECG predictor, we then identify absolute event rates and pooled risk ratios (RR) using an aggregate level random effects meta-analysis...
September 2023: European Stroke Journal
https://read.qxmd.com/read/37569555/sars-cov-2-and-its-bacterial-co-or-super-infections-synergize-to-trigger-covid-19-autoimmune-cardiopathies
#4
JOURNAL ARTICLE
Robert Root-Bernstein, Jack Huber, Alison Ziehl, Maja Pietrowicz
Autoimmune cardiopathies (AC) following COVID-19 and vaccination against SARS-CoV-2 occur at significant rates but are of unknown etiology. This study investigated the possible roles of viral and bacterial mimicry, as well as viral-bacterial co-infections, as possible inducers of COVID-19 AC using proteomic methods and enzyme-linked immunoadsorption assays. BLAST and LALIGN results of this study demonstrate that SARS-CoV-2 shares a significantly greater number of high quality similarities to some cardiac protein compared with other viruses; that bacteria such as Streptococci , Staphylococci and Enterococci also display very significant similarities to cardiac proteins but to a different set than SARS-CoV-2; that the importance of these similarities is largely validated by ELISA experiments demonstrating that polyclonal antibodies against SARS-CoV-2 and COVID-19-associated bacteria recognize cardiac proteins with high affinity; that to account for the range of cardiac proteins targeted by autoantibodies in COVID-19-associated autoimmune myocarditis, both viral and bacterial triggers are probably required; that the targets of the viral and bacterial antibodies are often molecularly complementary antigens such as actin and myosin, laminin and collagen, or creatine kinase and pyruvate kinase, that are known to bind to each other; and that the corresponding viral and bacterial antibodies recognizing these complementary antigens also bind to each other with high affinity as if they have an idiotype-anti-idiotype relationship...
July 29, 2023: International Journal of Molecular Sciences
https://read.qxmd.com/read/37489128/citicoline-may-prevent-cognitive-decline-in-patients-with-cerebrovascular-disease
#5
JOURNAL ARTICLE
Marta Almeria, Ignacio Alvarez, Jessica Molina-Seguin, Sarah Besora, Mariateresa Buongiorno, Silvia Romero, Laura Casas, Cristina Cano, Judith Castejon, Sonia Arribas, Jerzy Krupinski
INTRODUCTION: Neuroprotective drugs such as citicoline could improve cognitive performance and quality of life. We studied the effect of citicoline treatment and its association with Vascular Risk Factors (VRF) and APOE on cognition in patients with Subjective Cognitive Complaints (SCC) and Mild Cognitive Impairment (MCI). METHODS: This is an observational and prospective study with citicoline during 12 months follow-up. Eighty-one subjects who met criteria for SCC/MCI, aged 50-75 years with VRF were included and prescribed citicoline 1g/day...
2023: Clinical Interventions in Aging
https://read.qxmd.com/read/37429637/distribution-of-atrial-cardiomyopathy-markers-and-association-with-atrial-fibrillation-detected-after-ischaemic-stroke-in-the-safas-study
#6
JOURNAL ARTICLE
Romain Didier, Lucie Garnier, Gauthier Duloquin, Alexandre Meloux, Audrey Sagnard, Mathilde Graber, Geoffrey Dogon, Karim Benali, Thibaut Pommier, Gabriel Laurent, Catherine Vergely, Yannick Bejot, Charles Guenancia
BACKGROUND: Atrial cardiomyopathy (AC) is an emerging concept explaining the pathophysiology of cardioembolic strokes in absence of atrial fibrillation (AF). A definition based on the presence of electrical abnormality (P-wave terminal force in lead V1 (PTFV1) >5000 µV×ms), N-Terminal pro-B-type natriuretic peptide (NT pro BNP) >250 pg/mL and/or indexed left atrial diameter (LADI) >3 cm/m² is currently tested in the ARCADIA (AtRial Cardiopathy and Antithrombotic Drugs In prevention After cryptogenic stroke) trial...
July 10, 2023: Stroke and Vascular Neurology
https://read.qxmd.com/read/37021162/incremental-value-of-the-combined-brain-cardiac-ct-protocol-on-prediction-of-atrial-fibrillation-after-stroke
#7
JOURNAL ARTICLE
Alexandra Braillon, Angélique Bernard, Thibault Leclercq, Gauthier Duloquin, Thibaut Pommier, Karim Benali, Pierre-Olivier Comby, Romaric Loffroy, Marco Midulla, Frédéric Ricolfi, Yannick Béjot, Charles Guenancia
INTRODUCTION: Atrial fibrillation (AF) is one of the most common causes of ischemic stroke. It is essential to target patients at highest risk of AF detected after stroke (AFDAS), who should benefit from a prolonged rhythm screening strategy. Cardiac-CT angiography (CCTA) was added to the stroke protocol used in our institution in 2018. We sought to assess, for AFDAS, the predictive value of atrial cardiopathy markers by a CCTA performed on admission for acute ischemic stroke. PATIENTS AND METHODS: From November 2018 to October 2019, consecutive stroke patients with no history of AF were included...
March 2023: European Stroke Journal
https://read.qxmd.com/read/36930852/identification-of-potent-selective-and-peripherally-restricted-serotonin-receptor-2b-antagonists-from-a-high-throughput-screen
#8
JOURNAL ARTICLE
Aaron M Bender, Michael S Valentine, Joshua A Bauer, Emily Days, Craig W Lindsley, W David Merryman
Antagonists of the serotonin receptor 2B (5-HT2B ) have shown great promise as therapeutics for the treatment of pulmonary arterial hypertension, valvular heart disease, and related cardiopathies. Herein, we describe a high-throughput screen campaign that led to the identification of highly potent and selective 5-HT2B antagonists. Furthermore, selected compounds were profiled for their predicted ability to cross the blood-brain barrier. Two exemplary compounds, VU0530244 and VU0631019, were predicted to have very limited potential for brain penetration in human subjects, a critical profile for the development of 5-HT2B antagonists devoid of centrally-mediated adverse effects...
March 17, 2023: Assay and Drug Development Technologies
https://read.qxmd.com/read/36300665/atherosclerosis-as-a-potential-cause-of-deep-embolic-stroke-of-undetermined-source-a-3t-high-resolution-magnetic-resonance-imaging-study
#9
JOURNAL ARTICLE
Na Luo, Zi-Yang Shang, Lin Tao, Ben-Qiang Yang, Hui-Sheng Chen
Background The potential causes or sources of embolic stroke of undetermined source (ESUS) vary. This study aimed to investigate the main cause of deep ESUS by evaluating nonstenotic intracranial atherosclerotic plaque. Methods and Results We retrospectively screened consecutive patients with unilateral anterior circulation ESUS. After excluding the patients with possible embolism from an extracranial artery such as aortic arch plaque, carotid plaque, and so on, the enrolled patients with ESUS were categorized into 2 groups: deep ESUS and cortical with/without deep ESUS...
October 27, 2022: Journal of the American Heart Association
https://read.qxmd.com/read/36008599/impact-of-thyroid-function-screening-in-a-large-cohort-of-patients-admitted-to-an-emergency-department
#10
JOURNAL ARTICLE
Irene Campi, Giovanni Battista Perego, Antonella Ravogli, Francesca Santafede, Federica Sileo, Antonella Dubini, Gianfranco Parati, Luca Persani, Laura Fugazzola
BACKGROUND: Thyroid dysfunctions are highly prevalent and can worsen underlying cardiopathies, but despite that the routine screening of thyroid function in the Emergency Department (ED) setting is not generally recommended. OBJECTIVE: To understand if staff training and implementation of rapid TSH screening (rTSH) could improve the management of patients arrived in the ED. Specifically, we aimed at evaluating the prevalence of undiagnosed thyroid diseases among ED patients; the effects of educational meetings in the clinical decision-making process; the usefulness of rTSH, in terms of variation of either the clinical work out or the existing treatment...
November 2022: Internal and Emergency Medicine
https://read.qxmd.com/read/35933630/preoperative-hypoalbuminemia-in-patients-undergoing-cardiac-surgery-a-meta-analysis
#11
REVIEW
Ruoxin Xu, Meiqi Hao, Wei Zhou, Miaowen Liu, Yiping Wei, Jianjun Xu, Wenxiong Zhang
The preoperative serum albumin level has been shown to be associated with adverse postoperative complications, meaning that hypoalbuminemia may also be a risk factor. We performed a meta-analysis to evaluate the association of serum albumin levels with survival and complication rates after cardiac surgery. Relevant articles were identified through seven databases. Twenty studies with 22553 patients (hypoalbuminemia group, n = 9903; normal group, n = 12650) who underwent cardiac surgery met the inclusion criteria after screening...
August 2023: Surgery Today
https://read.qxmd.com/read/35911547/multimodal-approach-for-the-prediction-of-atrial-fibrillation-detected-after-stroke-safas-study
#12
JOURNAL ARTICLE
Lucie Garnier, Gauthier Duloquin, Alexandre Meloux, Karim Benali, Audrey Sagnard, Mathilde Graber, Geoffrey Dogon, Romain Didier, Thibaut Pommier, Catherine Vergely, Yannick Béjot, Charles Guenancia
BACKGROUND: Intensive screening for atrial fibrillation (AF) has led to a better recognition of this cause in stroke patients. However, it is currently debated whether AF Detected After Stroke (AFDAS) has the same pathophysiology and embolic risk as prior-to-stroke AF. We thus aimed to systematically approach AFDAS using a multimodal approach combining clinical, imaging, biological and electrocardiographic markers. METHODS: Patients without previously known AF admitted to the Dijon University Hospital (France) stroke unit for acute ischemic stroke were prospectively enrolled...
2022: Frontiers in Cardiovascular Medicine
https://read.qxmd.com/read/35819174/burden-of-rare-variants-in-arrhythmogenic-cardiomyopathy-with-right-dominant-form-associated-genes-provides-new-insights-for-molecular-diagnosis-and-clinical-management
#13
JOURNAL ARTICLE
Adeline Goudal, Matilde Karakachoff, Pierre Lindenbaum, Estelle Baron, Stéphanie Bonnaud, Florence Kyndt, Marine Arnaud, Damien Minois, Emmanuelle Bourcereau, Aurélie Thollet, Jean-François Deleuze, Emmanuelle Genin, François Wiart, Jean-Luc Pasquié, Vincent Galand, Frédéric Sacher, Christian Dina, Richard Redon, Stéphane Bezieau, Jean-Jacques Schott, Vincent Probst, Julien Barc
Arrhythmogenic cardiomyopathy with right dominant form (ACR) is a rare heritable cardiac cardiomyopathy disorder associated with sudden cardiac death. Pathogenic variants (PVs) in desmosomal genes have been causally related to ACR in 40% of cases. Other genes encoding nondesmosomal proteins have been described in ACR, but their contribution in this pathology is still debated. A panel of 71 genes associated with inherited cardiopathies was screened in an ACR population of 172 probands and 856 individuals from the general population...
September 2022: Human Mutation
https://read.qxmd.com/read/35514053/a-novel-deletion-mutation-accompanied-by-a-point-mutation-in-lamin-a-c-gene-screened-from-a-dilated-cardiomyopathy-family
#14
JOURNAL ARTICLE
Hao Jia, Yongxin Sun, Wangchao Yao, Zhenhang Chen, Shouguo Yang, Chunsheng Wang, Shuyang Lu
BACKGROUND: There are 30%-40% of patients with dilated cardiomyopathy (DCM) having genetic causes, among which Lamin A and C gene (LMNA) mutation is the second most frequent DCM-related mutation, and Lamin A/C may be involved in the pathogenesis of DCM through the regulation of gene transcription or the direct effect of cell structure. Methods: Echocardiography and electrocardiogram were used to diagnose DCM and arrhythmia in a DCM family. Then, linked mutations on LMNA were screened out by high-throughput sequencing and verified by Sanger sequencing in all research individuals...
May 5, 2022: Perfusion
https://read.qxmd.com/read/35100023/atrial-fibrillation-and-dementia-a-report-from-the-af-screen-international-collaboration
#15
REVIEW
Léna Rivard, Leif Friberg, David Conen, Jeffrey S Healey, Trygve Berge, Giuseppe Boriani, Axel Brandes, Hugh Calkins, A John Camm, Lin Yee Chen, Josep Lluis Clua Espuny, Ronan Collins, Stuart Connolly, Nikolaos Dagres, Mitchell S V Elkind, Johan Engdahl, Thalia S Field, Bernard J Gersh, Taya V Glotzer, Graeme J Hankey, Joseph A Harbison, Karl G Haeusler, Mellanie T Hills, Linda S B Johnson, Boyoung Joung, Paul Khairy, Paulus Kirchhof, Derk Krieger, Gregory Y H Lip, Maja-Lisa Løchen, Malini Madhavan, Georges H Mairesse, Joan Montaner, George Ntaios, Terence J Quinn, Michiel Rienstra, Mårten Rosenqvist, Roopinder K Sandhu, Breda Smyth, Renate B Schnabel, Stavros Stavrakis, Sakis Themistoclakis, Isabelle C Van Gelder, Ji-Guang Wang, Ben Freedman
Growing evidence suggests a consistent association between atrial fibrillation (AF) and cognitive impairment and dementia that is independent of clinical stroke. This report from the AF-SCREEN International Collaboration summarizes the evidence linking AF to cognitive impairment and dementia. It provides guidance on the investigation and management of dementia in patients with AF on the basis of best available evidence. The document also addresses suspected pathophysiologic mechanisms and identifies knowledge gaps for future research...
February 2022: Circulation
https://read.qxmd.com/read/35018359/severe-acute-respiratory-syndrome-by-sars-cov-2-infection-or-other-etiologic-agents-among-brazilian-indigenous-population-an-observational-study-from-the-first-year-of-coronavirus-disease-covid-19-pandemic
#16
JOURNAL ARTICLE
Nathália M S Sansone, Matheus N Boschiero, Manoela M Ortega, Isadora A Ribeiro, Andressa O Peixoto, Roberto T Mendes, Fernando A L Marson
BACKGROUND: Indigenous peoples are vulnerable to pandemics, including to the coronavirus disease (COVID)-19, since it causes high mortality and specially, the loss of elderly Indigenous individuals. METHODS: The epidemiological data of severe acute respiratory syndrome (SARS) by SARS-CoV-2 infection or other etiologic agents (OEA) among Brazilian Indigenous peoples during the first year of COVID-19 pandemic was obtained from a Brazilian Ministry of Health open-access database to perform an observational study...
April 2022: Lancet Reg Health Am
https://read.qxmd.com/read/34871963/electrocardiographic-biosignals-to-predict-atrial-fibrillation-are-we-there-yet
#17
JOURNAL ARTICLE
Anthony H Kashou, Peter A Noseworthy
The prevalence of atrial fibrillation (AF) continues to grow in an aging population, and its impact on both patients and the health care system has has made it a global burden. There are limited available options to detect individuals at risk of AF that may benefit from prevention and treatment strategies. The ECG may be an effective tool do so. In this work, we discuss the latest work by Hayiroğlu and colleagues related to this work and the use of novel ECG prediction tools to identify individuals individuals that could benefit from early and proactive screening, surveillance, and management strategies...
January 2022: Journal of Electrocardiology
https://read.qxmd.com/read/34597909/sudden-unexpected-death-after-a-mild-trauma-the-complex-forensic-interpretation-of-cardiac-and-genetic-findings
#18
Guido Pelletti, Ornella Leone, Simone Gavelli, Cesare Rossi, Alberto Foà, Valentina Agostini, Susi Pelotti
A 55-year-old man affected by a psychotic disorder suddenly died during a quarrel with his father. The autopsy excluded traumatic causes of death, and the cardiac examination identified a severe cardiomegaly with biventricular dilatation of very likely multifactorial origin. Toxicological and pharmacogenetic analyses excluded a fatal intoxication and identified the presence of the antipsychotic drug fluphenazine in the therapeutic range in a normal metabolizer. The screening for genetic variations highlighted a novel heterozygous single-nucleotide variant in the exon 36: c 0...
November 2021: Forensic Science International
https://read.qxmd.com/read/34075583/external-hydrocephalus-as-a-prenatal-feature-of-noonan-syndrome
#19
JOURNAL ARTICLE
Gioia Mastromoro, Alessandro De Luca, Enrica Marchionni, Antonella Spagnuolo, Flavia Ventriglia, Lucia Manganaro, Antonio Pizzuti
Brain malformations have been reported in RASopathies, including postnatal external hydrocephalus, a nonobstructive form of cerebrospinal fluid accumulation around the brain. It was described in a few patients with mutations of other genes than PTPN11, such as SOS1 and SHOC2 and never in prenatal diagnosis. The aim of this case report is to describe the prenatal presentation of a fetus with Noonan syndrome (NS) and external hydrocephalus. We report on a Noonan syndrome fetus with a de novo pathogenic PTPN11 c...
June 2, 2021: Annals of Human Genetics
https://read.qxmd.com/read/33851396/atrial-fibrillation-and-ischemic-stroke-a-clinical-review
#20
REVIEW
Ibrahim Migdady, Andrew Russman, Andrew B Buletko
Atrial fibrillation (AF) is an important risk factor for ischemic stroke resulting in a fivefold increased stroke risk and a twofold increased mortality. Our understanding of stroke mechanisms in AF has evolved since the concept of atrial cardiopathy was introduced as an underlying pathological change, with both AF and thromboembolism being common manifestations and outcomes. Despite the strong association with stroke, there is no evidence that screening for AF in asymptomatic patients improves clinical outcomes; however, there is strong evidence that patients with embolic stroke of undetermined source may require long-term monitoring to detect silent or paroxysmal AF...
August 2021: Seminars in Neurology
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