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https://www.readbyqxmd.com/read/28088328/altered-myocyte-contractility-and-calcium-homeostasis-in-alpha-myosin-heavy-chain-point-mutations-linked-to-familial-dilated-cardiomyopathy
#1
Matthew Klos, Lakshmi Mundada, Indroneal Banerjee, Sherry Morgenstern, Stephanie Myers, Michael Leone, Mark Kleid, Todd Herron, Eric Devaney
Mutations in the human cardiac motor protein beta-myosin heavy chain (βMHC) have been long recognized as a cause of familial hypertrophic cardiomyopathy. Recently, mutations (P830L and A1004S) in the less abundant but faster isoform alpha-myosin heavy chain (αMHC) have been linked to dilated cardiomyopathy (DCM). In this study, we sought to determine the cellular contractile phenotype associated with these point mutations. Ventricular myocytes were isolated from 2 month male Sprague Dawley rats. Cells were cultured in M199 media and infected with recombinant adenovirus containing the P830L or the A1004S mutant human αMHC at a MOI of 500 for 18 h...
January 11, 2017: Archives of Biochemistry and Biophysics
https://www.readbyqxmd.com/read/28087916/-a-case-of-idiopathic-hypertrophic-cranial-pachymeningitis-presenting-as-chronic-subdural-hematoma
#2
Zhan He, Fang Ding, Jiandong Rong, Yongli Gan
A 26-year-old male presented with a 6-day history of paroxysmal headache which was worsen with nausea and vomiting for 1 day. Head CT on admission revealed left chronic subdural hematoma with midline shift. An emergency Burr hole drainage for hematoma was performed. Headache recurred 6 days later. MRI of the brain revealed a diffuse thickening and a gadolinium-enhancement of the falx, cranial dura mater and tentorium cerebelli on the left side with pia mater involved. Lumber puncture showed increased intracranial pressure and elevated IgG level in cerebrospinal fluid...
May 25, 2016: Zhejiang da Xue Xue Bao. Yi Xue Ban, Journal of Zhejiang University. Medical Sciences
https://www.readbyqxmd.com/read/28087734/increased-mitophagy-in-the-skeletal-muscle-of-spinal-and-bulbar-muscular-atrophy-patients
#3
Doriana Borgia, Adriana Malena, Marco Spinazzi, Maria Andrea Desbats, Leonardo Salviati, Aaron P Russell, Giovanni Miotto, Laura Tosatto, Elena Pegoraro, Gianni Sorarù, Maria Pennuto, Lodovica Vergani
Spinal and bulbar muscular atrophy (SBMA) is a neuromuscular disorder caused by polyglutamine expansion in the androgen receptor (AR) and characterized by the loss of lower motor neurons. Here we investigated pathological processes occurring in muscle biopsy specimens derived from SBMA patients and, as controls, age-matched healthy subjects and patients suffering from amyotrophic lateral sclerosis (ALS) and neurogenic atrophy. We detected atrophic fibers in the muscle of SBMA, ALS and neurogenic atrophy patients...
January 13, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28077817/prognostic-significance-of-non-dilated-left-ventricular-size-and-mitral-regurgitation-in-patients-with-dilated-phase-of-hypertrophic-cardiomyopathy
#4
Toru Kubo, Yuichi Baba, Takayoshi Hirota, Katsutoshi Tanioka, Naohito Yamasaki, Yoshinori L Doi, Hiroaki Kitaoka
Although a subtype of hypertrophic cardiomyopathy (HCM), dilated phase of HCM (D-HCM) characterized by left ventricular (LV) systolic dysfunction, has been reported to have a poor prognosis, some patients with D-HCM survive for a relatively long period. The degree of LV dilatation and functional mitral regurgitation (MR) are generally thought to be important predictors of poor prognosis in patients with LV systolic dysfunction. However, there is little information available on the relations among LV size, presence of significant MR, and prognosis in D-HCM patients...
January 11, 2017: International Heart Journal
https://www.readbyqxmd.com/read/28077803/gerosuppression-by-pan-mtor-inhibitors
#5
Olga V Leontieva, Mikhail V Blagosklonny
Rapamycin slows organismal aging and delays age-related diseases, extending lifespan in numerous species. In cells, rapamycin and other rapalogs such as everolimus suppress geroconversion from quiescence to senescence. Rapamycin inhibits some, but not all, activities of mTOR. Recently we and others demonstrated that pan-mTOR inhibitors, known also as dual mTORC1/C2 inhibitors, suppress senescent phenotype. As a continuation of these studies, here we investigated in detail a panel of pan-mTOR inhibitors, to determine their optimal gerosuppressive concentrations...
December 30, 2016: Aging
https://www.readbyqxmd.com/read/28077400/differential-expression-of-hedgehog-and-snail-in-cutaneous-fibrosing-disorders-implications-for-targeted-inhibition
#6
Amrita Goyal, Katy R Linskey, Jonathan Kay, Lyn M Duncan, Rosalynn M Nazarian
OBJECTIVES: To examine Hedgehog signaling in cutaneous fibrosing disorders for which effective approved therapies are lacking, expand our knowledge of pathophysiology, and explore the rationale for targeted inhibition. METHODS: Stain intensity and percentage of cells staining for Sonic hedgehog (Shh), Indian hedgehog (Ihh), Patched (Ptch), glycogen synthase kinase 3 β (GSK3-β), β-catenin, and Snail were evaluated in human skin biopsy specimens of keloid, hypertrophic scar (Hscar), scleroderma, nephrogenic systemic fibrosis (NSF), scar, and normal skin using a tissue microarray...
December 2016: American Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28075443/microrna-expression-signature-and-the-therapeutic-effect-of-the-microrna%C3%A2-21-antagomir-in-hypertrophic-scarring
#7
Liang Guo, Kai Xu, Hongbo Yan, Haifeng Feng, Tao Wang, Linlin Chai, Guozheng Xu
Hypertrophic scars (HS) area fibroproliferative disorder of the skin, which causes aesthetic and functional impairment. However, the molecular pathogenesis of this disease remains largely unknown and currently no efficient treatment exists. MicroRNAs (miRNAs) are involved in a variety of pathophysiological processes, however the role of miRNAs in HS development remains unclear. To investigate the miRNA expression signature of HS, microarray analysis was performed and 152 miRNAs were observed to be differentially expressed in HS tissue compared with normal skin tissues...
January 5, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28074719/-ten-tips-for-initial-assessment-and-treatment-of-minor-burns
#8
G L Vlaspolder, A F P M Vloemans, R S Breederveld
The initial care of a patient with burns is a challenge for every doctor. After cooling the burn appropriately, a careful history and a good initial assessment are of essential importance for treatment. The burn should be inspected regularly for early detection of any infection and to evaluate wound healing. If healing has not occurred in two weeks, hypertrophic scarring may develop and surgical treatment should be considered. It is always possible to contact the burns centres in Beverwijk, Rotterdam and Groningen to discuss treatment of the burn, any infection of a wound, consideration of surgical treatment, or transfer of a patient to a burn centre...
2017: Nederlands Tijdschrift Voor Geneeskunde
https://www.readbyqxmd.com/read/28073913/raf-kinases-are-essential-for-phosphate-induction-of-erk1-2-phosphorylation-in-hypertrophic-chondrocytes-and-normal-endochondral-bone-development
#9
Garyfallia Papaioannou, Elizabeth T Petit, Eva S Liu, Manuela Baccarini, Catrin Pritchard, Marie B Demay
Hypophosphatemia causes rickets by impairing hypertrophic chondrocyte apoptosis. Phosphate induction of Mek1/2;Erk1/2 phosphorylation in hypertrophic chondrocytes is required for phosphate-mediated apoptosis and growth plate maturation. Mek1/2 can be activated by numerous molecules including Raf isoforms. A- and B-Raf ablation in chondrocytes does not alter skeletal development while ablation of C-Raf decreases hypertrophic chondrocyte apoptosis and impairs vascularization of the growth plate. However, ablation of C-Raf does not impair phosphate-induced Erk1/2 phosphorylation in vitro, but leads to rickets by decreasing VEGF protein stability...
January 10, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28073660/effectiveness-of-subcutaneous-implantable-cardioverter-defibrillator-testing-in-patients-with-hypertrophic-cardiomyopathy
#10
Niccoló Maurizi, Ilaria Tanini, Iacopo Olivotto, Ernesto Amendola, Giuseppe Limongelli, Maria Angela Losi, Giuseppe Allocca, Giovanni Battista Perego, Paolo Pieragnoli, Giuseppe Ricciardi, Paolo De Filippo, Paola Ferrari, Giovanni Quarta, Stefano Viani, Antonio Rapacciuolo, Maria Grazia Bongiorni, Franco Cecchi
BACKGROUND: Subcutaneous ICD (S-ICD) is a promising option for Hypertrophic Cardiomyopathy (HCM) patients at risk of Sudden Cardiac Death (SCD). However, its effectiveness in terminating ventricular arrhythmias in HCM is yet unresolved. METHODS: Consecutive HCM patients referred for S-ICD implantation were prospectively enrolled. Patients underwent one or two attempts of VF induction by the programmer. Successful conversion was defined as any 65J shock that terminated VF (not requiring rescue shocks)...
January 4, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28073646/hypertrophic-cardiomyopathy-without-ventricular-hypertrophy-usefulness-of-genetic-and-pathological-study-in-preventing-sudden-death
#11
Federico Segura-Villalobos, Ana Isabel Hernández-Guerra, Fernando Wanguemert-Pérez, Juan Carlos Rodríguez-Pérez, Haridian Mendoza-Lemes, Roberto Barriales-Villa
No abstract text is available yet for this article.
January 7, 2017: Revista Española de Cardiología
https://www.readbyqxmd.com/read/28073473/how-rising-co2-and-global-warming-may-stimulate-harmful-cyanobacterial-blooms
#12
REVIEW
Petra M Visser, Jolanda M H Verspagen, Giovanni Sandrini, Lucas J Stal, Hans C P Matthijs, Timothy W Davis, Hans W Paerl, Jef Huisman
Climate change is likely to stimulate the development of harmful cyanobacterial blooms in eutrophic waters, with negative consequences for water quality of many lakes, reservoirs and brackish ecosystems across the globe. In addition to effects of temperature and eutrophication, recent research has shed new light on the possible implications of rising atmospheric CO2 concentrations. Depletion of dissolved CO2 by dense cyanobacterial blooms creates a concentration gradient across the air-water interface. A steeper gradient at elevated atmospheric CO2 concentrations will lead to a greater influx of CO2, which can be intercepted by surface-dwelling blooms, thus intensifying cyanobacterial blooms in eutrophic waters...
April 2016: Harmful Algae
https://www.readbyqxmd.com/read/28072930/left-ventricular-outflow-tract-obstruction-be-prepared
#13
J S Evans, S J Huang, A S McLean, M Nalos
The current trend to treat hypotension in critically ill patients is to place a greater emphasis on inotropic support and less on fluid resuscitation in order to limit the potential harm from fluid overload. This combination may trigger left ventricular outflow tract obstruction (LVOTO) in susceptible patients. Although LVOTO is classically described in patients with hypertrophic cardiomyopathy it has been reported in other conditions including septic shock, apical ballooning syndrome, myocardial infarction, respiratory failure, and post valvular surgery...
January 2017: Anaesthesia and Intensive Care
https://www.readbyqxmd.com/read/28070839/-1-h-and-31-p-myocardial-magnetic-resonance-spectroscopy-in-non-obstructive-hypertrophic-cardiomyopathy-patients-and-competitive-athletes
#14
Francesco Secchi, Giovanni Di Leo, Marcello Petrini, Riccardo Spairani, Marco Alì, Marco Guazzi, Francesco Sardanelli
PURPOSE: The clinical differentiation between athlete's heart and mild forms of non-obstructive hypertrophic cardiomyopathy (HCM) is crucial. We hypothesized that differences do exist between the myocardial metabolism of patients with non-obstructive HCM and competitive athletes (CAs). Our aim was to evaluate myocardial metabolism with (31)P-MRS and (1)H-MRS in HCM patients and CAs. MATERIALS AND METHODS: After Ethics Committee approval, 15 CAs and 7 HCM patients were prospectively enrolled...
January 9, 2017: La Radiologia Medica
https://www.readbyqxmd.com/read/28070495/an-atypical-presentation-of-acad9-deficiency-diagnosis-by-whole-exome-sequencing-broadens-the-phenotypic-spectrum-and-alters-treatment-approach
#15
H K Aintablian, V Narayanan, N Belnap, K Ramsey, T A Grebe
Acyl-CoA dehydrogenase 9 (ACAD9), linked to chromosome 3q21.3, is one of a family of multimeric mitochondrial flavoenzymes that catalyze the degradation of fatty acyl-CoA from the carnitine shuttle via β-oxidation (He et al. 2007). ACAD9, specifically, is implicated in the processing of palmitoyl-CoA and long-chain unsaturated substrates, but unlike other acyl-CoA dehydrogenases (ACADs), it has a significant role in mitochondrial complex I assembly (Nouws et al. 2010 & 2014). Mutations in this enzyme typically cause mitochondrial complex I deficiency, as well as a mild defect in long chain fatty acid metabolism (Haack et al...
March 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28070248/childhood-cardiomyopathies-a-study-in-tertiary-care-hospital-in-upper-egypt
#16
Mohamed Abd Elaal Bakeet, Montaser Mohamed Mohamed, Ahmed Ahmed Allam, Rania Gamal
INTRODUCTION: Cardiomyopathy (CMP) is defined by the World Health Organization (WHO) as a disease of the myocardium associated with cardiac dysfunction. An understanding of CMP is very important, as it is a common cause of heart failure in children, and the most common indication for heart transplantation in children older than one year, but data on CMP in Egypt are scarce. The aim of this study was to determine the number, risk factors, clinical presentation, complications and outcome of different types of childhood cardiomyopathies in Sohag University Hospital...
November 2016: Electronic Physician
https://www.readbyqxmd.com/read/28069158/systolic-myocardial-volume-gain-in-dilated-hypertrophied-and-normal-heart-cmr-study
#17
Ł Mazurkiewicz, E Orłowska-Baranowska, J Petryka, M Śpiewak, M Gawor, B Miłosz-Wieczorek, K Werys, Ł A Małek, M Marczak, J Grzybowski
AIM: To investigate changes in myocardial tissue volume during the cardiac cycle to verify the hypothesis of non-compressibility of the myocardium in healthy individuals (HI) as well as in patients with hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), and aortic stenosis (AS). MATERIALS AND METHODS: The study group included 30 HI, and patients with HCM (n=110), DCM (n=89), and AS (n=78). Left ventricular (LV) function, end-diastolic, and end-systolic volumes were calculated based on cardiac magnetic resonance imaging (CMR) for all participants...
January 6, 2017: Clinical Radiology
https://www.readbyqxmd.com/read/28068798/an-asymptomatic-septal-perforator-coronary-artery-left-ventricle-fistula-following-myectomy-in-a-patient-with-obstructive-hypertrophic-cardiomyopathy
#18
N Koutsogiannis, Ioanna Koniari, N Kounis, G Hahalis
No abstract text is available yet for this article.
January 1, 2017: Angiology
https://www.readbyqxmd.com/read/28067962/concurrent-multiple-myeloma-and-mast-cell-neoplasia-in-a-13-year-old-castrated-male-maine-coon-cat
#19
Jonathan M Bagwell, Heather R Herd, Melanie A Breshears, Steven Hodges, Theresa E Rizzi
A 13-year-old, castrated male Maine Coon cat was presented to Oklahoma State University Boren Veterinary Medical Teaching Hospital for yearly echocardiographic examination monitoring hypertrophic cardiomyopathy (HCM) diagnosed in 2003. Physical examination revealed a heart murmur and premature beats, likely related to HCM, but was otherwise unremarkable. A biochemistry profile revealed a hyperglobulinemia (6.3 g/dL). Cytologic examination of fine-needle aspirates from liver and spleen revealed increased numbers of plasma cells and mast cells, confirmed with subsequent histologic examination...
January 9, 2017: Veterinary Clinical Pathology
https://www.readbyqxmd.com/read/28067449/13cra-regulates-the-differentiation-of-antler-chondrocytes-through-targeting-runx3
#20
Hong-Liang Zhang, Hang Cao, Zhan-Qing Yang, Shuang Geng, Kai Wang, Hai-Fan Yu, Bin Guo, Zhan-Peng Yue
Although 13cRA is involved in the regulation of cellular proliferation and differentiation, its physiological roles in chondrocyte proliferation and differentiation still remain unknown. Here we showed that 13cRA could induce the proliferation of sika deer antler chondrocytes and expression of Ccnd3 and Cdk6. Administration of 13cRA to antler chondrocytes resulted in an obvious increase in the expression of chondrocyte marker Col II and hypertrophic chondrocyte marker Col X. Silencing of Crabp2 expression by specific siRNA could prevent the 13cRA-induced up-regulation of Col X, whereas overexpression of Crabp2 showed the opposite effects...
January 9, 2017: Cell Biology International
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