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https://www.readbyqxmd.com/read/28646025/remodeling-of-repolarization-and-arrhythmia-susceptibility-in-a-myosin-binding-protein-c-knockout-mouse-model
#1
Amir Toib, Chen Zhang, Giulia Borghetti, Xiaoxiao Zhang, Markus Wallner, Yijun Yang, Constantine Troupes, Hajime Kubo, Thomas Sharp, Eric Feldsott, Remus M Berretta, Neil Zalavadia, Danielle Trappanese, Shavonn Harper, Polina Gross, Xiongwen Chen, Sadia Mohsin, Steven Houser
Hypertrophic cardiomyopathy (HCM) is one of the most common genetic cardiac diseases and amongst the leading causes of sudden cardiac death (SCD) in the young. The cellular mechanisms leading to SCD in HCM are not well known. Prolongation of the action potential duration (APD) is a common feature predisposing hypertrophied hearts to SCD. Previous studies have explored the roles of inward Na(+) and Ca(2+) in the development of HCM, but the role of repolarizing K(+) currents have not been defined. The objective of this study was to characterize the arrhythmogenic phenotype and cellular electrophysiological properties of mice with HCM, induced by Myosin Binding Protein C (MyBPC) Knockout (KO) and to test the hypothesis that remodeling of repolarizing K(+) currents cause APD prolongation in MyBPC KO myocytes...
June 23, 2017: American Journal of Physiology. Heart and Circulatory Physiology
https://www.readbyqxmd.com/read/28645928/molecular-mechanisms-in-cardiomyopathy
#2
REVIEW
Keith Dadson, Ludger Hauck, Filio Billia
Cardiomyopathies represent a heterogeneous group of diseases that negatively affect heart function. Primary cardiomyopathies specifically target the myocardium, and may arise from genetic [hypertrophic cardiomyopathy (HCM), arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D), mitochondrial cardiomyopathy] or genetic and acquired [dilated cardiomyopathy (DCM), restrictive cardiomyopathy (RCM)] etiology. Modern genomics has identified mutations that are common in these populations, while in vitro and in vivo experimentation with these mutations have provided invaluable insight into the molecular mechanisms native to these diseases...
July 1, 2017: Clinical Science (1979-)
https://www.readbyqxmd.com/read/28644069/concomitant-idiopathic-hypertrophic-spinal-pachymeningitis-and-guillain-barr%C3%A3-syndrome-in-a-patient-coincidence-or-a-triggering-mechanism
#3
Farouk Olubajo, Tatyana Yermakova, J Robin Highley, Vasileios Arzoglou
Idiopathic hypertrophic spinal pachymeningitis (IHSP), a rare diffuse inflammatory thickening of the dura mater, and Guillain-Barré syndrome (GBS) are known entities but they have never been reported as concomitant diagnoses. To their knowledge, the authors present the first reported case in the international literature with supportive evidence for both IHSP (based on MRI, intraoperative, and histological findings) and GBS (based on history, clinical examination, and electrophysiological findings). They review the literature on IHSP and the diagnostic criteria for GBS, with the view of identifying a possible causative connection...
June 23, 2017: Journal of Neurosurgery. Spine
https://www.readbyqxmd.com/read/28643686/-pachymeningitis-associated-with-igg4-disease
#4
Dan Zimelewicz Oberman, Carolina Cuello Oderiz, Matteo Baccanelli, Silvia Christiansen, María Cristina Zurrú
Hypertrophic pachymeningitis is an infrequent disorder. It can be idiopathic or secondary to infectious, autoimmune or neoplastic disease. The recently described 〈IgG4-related disease〉 could be the origin of many cases considered cryptogenic. We present the case of a 60-year-old man, with a history of headache and episcleritis in both eyes, with partial response to corticoid therapy. The brain MR study with gadolinium showed enhancement and thickening of the dura mater, extending from lateral wall of left temporal and occipital lobes to ipsilateral tentorium...
2017: Medicina
https://www.readbyqxmd.com/read/28643552/drug-induced-physeal-abnormalities-in-preclinical-toxicity-studies
#5
Kendall S Frazier
Most toxic physeal changes are characterized microscopically by altered chondrocyte development, proliferation, or maturation in the growth plate and eventually result in disordered appositional bone growth. Many therapeutic drugs directly or indirectly target proteins involved in chondrocytic differentiation and maturation pathways, so toxic physeal injury has become increasingly common in preclinical toxicologic pathology. While physeal dysplasia has been associated with several different drug classes including bisphosphonates, vascular endothelial growth factor receptor inhibitors, fibroblast growth factor receptor inhibitors, transforming growth factor beta receptor inhibitors, and vascular targeting agents, physeal changes often share similar morphologic features including thickening and disorganization of the hypertrophic layer, increased numbers of hypertrophic chondrocytes, altered mineralization of endochondral ossification, and/or increased thickness of subphyseal bone...
January 1, 2017: Toxicologic Pathology
https://www.readbyqxmd.com/read/28642712/investigations-into-the-sarcomeric-protein-and-ca-2-regulation-abnormalities-underlying-hypertrophic-cardiomyopathy-in-cats-felix-catus
#6
Andrew E Messer, Jasmine Chan, Alex Daley, O'Neal Copeland, Steven B Marston, David J Connolly
Hypertrophic cardiomyopathy (HCM) is the most common single gene inherited cardiomyopathy. In cats (Felix catus) HCM is even more prevalent and affects 16% of the outbred population and up to 26% in pedigree breeds such as Maine Coon and Ragdoll. Homozygous MYBPC3 mutations have been identified in these breeds but the mutations in other cats are unknown. At the clinical and physiological level feline HCM is closely analogous to human HCM but little is known about the primary causative mechanism. Most identified HCM causing mutations are in the genes coding for proteins of the sarcomere...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/28641980/cardiomyocyte-specific-overexpression-of-a-37-amino-acid-domain-of-regulator-of-g-protein-signalling-2-inhibits-cardiac-hypertrophy-and-improves-function-in-response-to-pressure-overload-in-mice
#7
Katherine N Lee, Xiangru Lu, Chau Nguyen, Qingping Feng, Peter Chidiac
Regulator of G protein signalling 2 (RGS2) is known to play a protective role in maladaptive cardiac hypertrophy and heart failure via its ability to inhibit Gq and Gs mediated GPCR signalling. We previously demonstrated that RGS2 can also inhibit protein translation and can thereby attenuate cell growth. This G protein-independent inhibitory effect has been mapped to a 37 amino acid domain (RGS2(eb)) within RGS2 that binds to eukaryotic initiation factor 2B (eIF2B). When expressed in neonatal rat cardiomyocytes, RGS2(eb) attenuates both protein synthesis and hypertrophy induced by Gq- and Gs- activating agents...
June 19, 2017: Journal of Molecular and Cellular Cardiology
https://www.readbyqxmd.com/read/28641398/pregnancy-in-hypertrophic-cardiomyopathy
#8
Anjali Tiku Owens
No abstract text is available yet for this article.
June 21, 2017: European Heart Journal
https://www.readbyqxmd.com/read/28641076/elevated-cd26-expression-by-skin-fibroblasts-distinguishes-a-profibrotic-phenotype-involved-in-scar-formation-compared-to-gingival-fibroblasts
#9
Wesley Mah, Guoqiao Jiang, Dylan Olver, Corrie Gallant-Behm, Colin Wiebe, David A Hart, Leeni Koivisto, Hannu Larjava, Lari Häkkinen
Compared to skin, wound healing in oral mucosa is faster and produces less scarring, but the mechanisms involved are incompletely understood. Studies in mice have linked high expression of CD26 to a profibrotic fibroblast phenotype, but this has not been tested in models more relevant for humans. We hypothesized that CD26 is highly expressed by human skin fibroblasts (SFBLs), and this associates with a profibrotic phenotype distinct from gingival fibroblasts (GFBLs). We compared CD26 expression in human gingiva and skin and in gingival and hypertrophic-like scar-forming skin wound healing in a pig model, and used three-dimensional cultures of human GFBLs and SFBLs...
June 19, 2017: American Journal of Pathology
https://www.readbyqxmd.com/read/28641044/the-effects-of-short-versus-long-inter-set-rest-intervals-in-resistance-training-on-measures-of-muscle-hypertrophy-a-systematic-review
#10
Jozo Grgic, Bruno Lazinica, Pavle Mikulic, James W Krieger, Brad Jon Schoenfeld
Although the effects of short versus long inter-set rest intervals in resistance training on measures of muscle hypertrophy have been investigated in several studies, the findings are equivocal and the practical implications remain unclear. In an attempt to provide clarity on the topic, we performed a systematic literature search of PubMed/MEDLINE, Scopus, Web of Science, Cochrane Library, and Physiotherapy Evidence Database (PEDro) electronic databases. Six studies were found to have met the inclusion criteria: (a) an experimental trial published in an English-language peer-reviewed journal; (b) the study compared the use of short (≤60 s) to long (>60 s) inter-set rest intervals in a traditional dynamic resistance exercise using both concentric and eccentric muscle actions, with the only difference in resistance training among groups being the inter-set rest interval duration; (c) at least one method of measuring changes in muscle mass was used in the study; (d) the study lasted for a minimum of four weeks, employed a training frequency of ≥2 resistance training days per week, and (e) used human participants without known chronic disease or injury...
June 22, 2017: European Journal of Sport Science
https://www.readbyqxmd.com/read/28640247/genetic-testing-impacts-the-utility-of-prospective-familial-screening-in-hypertrophic-cardiomyopathy-through-identification-of-a-nonfamilial-subgroup
#11
Carol Ko, Patricia Arscott, Maryann Concannon, Sara Saberi, Sharlene M Day, Beverly M Yashar, Adam S Helms
PurposeHypertrophic cardiomyopathy (HCM) is considered a hereditary autosomal dominant condition, but genetic testing is positive in only half of patients. In patients with negative genetic tests, the inheritance pattern and utility of family screening are unclear.MethodsSubjects with HCM were prospectively enrolled in a registry. A survey at a median follow-up of 4 years determined the yield of family screening.ResultsThe outcome of cardiac screening on 267 family members was reported by 120 survey respondents...
June 22, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28639774/-discovery-of-left-ventricular-hypertrophy-during-adult-echocardiography
#12
Nicolas B Dayal, Hajo Müller
Left ventricular hypertrophy is a common finding during echocardiography. A precise evaluation of the left ventricular wall thickness, ventricular mass and distribution of hypertrophy is crucial both for diagnostic workup, follow-up and for prognostic evaluation. The differential diagnosis of left ventricular hypertrophy includes hypertrophic cardiomyopathies, hypertrophy secondary to abnormal left ventricular filling conditions, hypertrophy linked to intense physical training and the isolated basal septal hypertrophy of the elderly...
May 24, 2017: Revue Médicale Suisse
https://www.readbyqxmd.com/read/28639223/imaging-of-left-ventricular-hypertrophy-a-practical-utility-for-differential-diagnosis-and-assessment-of-disease-severity
#13
REVIEW
Toru Kubo, Hiroaki Kitaoka
PURPOSE OF REVIEW: Left ventricular hypertrophy (LVH) is often encountered in clinical practice, and it is a risk factor for cardiac mortality and morbidity. Determination of the etiology and disease severity is important for the management of patients with LVH. The aim of this review is to show the remarkable progress in cardiac imaging and its importance in clinical practice. RECENT FINDINGS: This review focuses on clinical features and characteristic cardiac imaging in LVH caused by various diseases including hypertension, aortic valve stenosis, hypertrophic cardiomyopathy, and secondary cardiomyopathies...
August 2017: Current Cardiology Reports
https://www.readbyqxmd.com/read/28638577/a-rare-case-of-apical-hypertrophic-cardiomyopathy-ahcm
#14
Seyed Abbas Mirabbasi, Koroush Khalighi, Suresh Mukkamala, Archana Kodali
Apical hypertrophic cardiomyopathy is a rare form of hypertrophic cardiomyopathy that involves thickening of the distal portion of the left ventricular wall. Most commonly seen in the Japan, with a prevalence rate of about 15% of all HCM patient, its incidence in the USA is approximately 3% of HCM cases. We report a case of a 46-year-old woman with history of hypertension who presented to emergency department with worsening dyspnea and orthopnea with features of left ventricular hypertrophy (LVH) and diffuse large T-wave inversions in the lateral leads on a 12-lead ECG...
March 2017: Journal of Community Hospital Internal Medicine Perspectives
https://www.readbyqxmd.com/read/28638575/danon-disease-for-the-cardiologist-case-report-and-review-of-the-literature
#15
Ryan S D'souza, Luisa Mestroni, Matthew R G Taylor
Danon disease is a rare, X-linked dominant genetic disorder that is caused by defects in the lysosome-associated membrane protein 2 (LAMP2) gene. It manifests predominantly in young males with a classic triad of cardiomyopathy, skeletal myopathy, and intellectual disability. Death from cardiac disease is the ultimate cause of demise in many patients if left untreated. Given the rarity of the condition, the natural history is poorly understood. Here, we present a case report on a 14-year-old Hispanic boy with Danon disease, highlighting major clinical events and diagnostic study findings over a six-year period from age of symptom onset to age of death...
March 2017: Journal of Community Hospital Internal Medicine Perspectives
https://www.readbyqxmd.com/read/28637853/trophic-state-changes-can-affect-the-importance-of-methane-derived-carbon-in-aquatic-food-webs
#16
Jos Schilder, Maarten van Hardenbroek, Paul Bodelier, Emiliya P Kirilova, Markus Leuenberger, André F Lotter, Oliver Heiri
Methane-derived carbon, incorporated by methane-oxidizing bacteria, has been identified as a significant source of carbon in food webs of many lakes. By measuring the stable carbon isotopic composition (δ(13)C values) of particulate organic matter, Chironomidae and Daphnia spp. and their resting eggs (ephippia), we show that methane-derived carbon presently plays a relevant role in the food web of hypertrophic Lake De Waay, The Netherlands. Sediment geochemistry, diatom analyses and δ(13)C measurements of chironomid and Daphnia remains in the lake sediments indicate that oligotrophication and re-eutrophication of the lake during the twentieth century had a strong impact on in-lake oxygen availability...
June 28, 2017: Proceedings. Biological Sciences
https://www.readbyqxmd.com/read/28636508/how-to-perform-stress-exercise-echocardiography-in-hypertrophic-cardiomyopathy
#17
Patricia Reant, Stephane Lafitte, Amelie Reynaud
No abstract text is available yet for this article.
March 21, 2017: Acta Cardiologica
https://www.readbyqxmd.com/read/28634835/impact-of-mechanical-stimulation-on-the-chondrogenic-processes-in-human-bone-marrow-aspirates-modified-to-overexpress-sox9-via-raav-vectors
#18
Jagadeesh K Venkatesan, Janina Frisch, Ana Rey-Rico, Gertrud Schmitt, Henning Madry, Magali Cucchiarini
BACKGROUND: Evaluation of gene-based approaches to target human bone marrow aspirates in conditions of mechanical stimulation that aim at reproducing the natural joint environment may allow to develop improved treatments for articular cartilage injuries. In the present study, we investigated the potential of rAAV-mediated sox9 gene transfer to enhance the chondrogenic differentiation processes in human bone marrow aspirates under established hydrodynamic conditions compared with the more commonly employed static culture conditions...
December 2017: Journal of Experimental Orthopaedics
https://www.readbyqxmd.com/read/28633736/klippel-trenauney-syndrome-with-axillary-hyperhidrosis
#19
Yeun Jina Lim, David Rosmarin, Giannoula Klement, Shiu-Chung Au
Klippel-Trenaunay syndrome (KTS) is a rare, clinically variable congenital disorder involving capillary malformations, soft tissue or bone hypertrophy, and venous malformations or varicose veins. We report a 28-year-old man who presented with a hypertrophic right arm as well as markedly increased ipsilateral axillary hyperhidrosis and erythematous patches on the back, chest, and arm. This case of KTS is unusual because our patient presented with a markedly increased unilateral axillary hyperhidrosis ipsilateral to the hypertrophic limb...
June 15, 2017: Dermatology Online Journal
https://www.readbyqxmd.com/read/28632950/fibroblastic-connective-tissue-nevus-clinicopathological-and-immunohistochemical-study-of-14-cases
#20
Ilaria Pennacchia, Heinz Kutzner, Dmitry V Kazakov, Thomas Mentzel
BACKGROUND: We present herein a series of 14 lesions showing overlapping features with the newly defined benign cutaneous mesenchymal neoplasm labelled as fibroblastic connective tissue nevus (FCTN). METHODS AND RESULTS: Eight patients were male and five were female, ranging in age from 1 to 56 years. Lesions appeared as isolated nodules or plaques on the trunk (7 cases), the limbs (4 cases) and the neck (2 cases). Histologically, all cases were composed of bundles of bland spindle cells of fibroblastic/myofibroblastic lineage irregularly branching within the reticular dermis and along fibrous septa in the subcutis...
June 20, 2017: Journal of Cutaneous Pathology
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