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https://www.readbyqxmd.com/read/28318089/a-cacna1d-mutation-in-a-patient-with-persistent-hyperinsulinaemic-hypoglycaemia-heart-defects-and-severe-hypotonia
#1
S E Flanagan, F Vairo, M B Johnson, R Caswell, T W Laver, H Lango Allen, K Hussain, S Ellard
Congenital hyperinsulinaemic hypoglycaemia (HH) can occur in isolation or it may present as part of a wider syndrome. For approximately 40%-50% of individuals with this condition, sequence analysis of the known HH genes identifies a causative mutation. Identifying the underlying genetic aetiology in the remaining cases is important as a genetic diagnosis will inform on recurrence risk, may guide medical management and will provide valuable insights into β-cell physiology. We sequenced the exome of a child with persistent diazoxide-responsive HH, mild aortic insufficiency, severe hypotonia, and developmental delay as well as the unaffected parents...
March 20, 2017: Pediatric Diabetes
https://www.readbyqxmd.com/read/28295972/first-report-of-a-simultaneous-transcatheter-mitral-valve-in-valve-and-aortic-valve-replacement-in-a-left-ventricular-assist-device-patient
#2
Christopher Meduri, James Kauten, Mani Vannan, Vivek Rajagopal
Transcatheter aortic valve replacement is standard of care for patients with severe aortic stenosis at high risk for surgical aortic valve replacement. Although not intended for treatment of primary aortic insufficiency, several transcatheter aortic valve prostheses have been used to treat patients with severe aortic insufficiency (AI), including patients with left ventricular assist devices (LVAD), in whom significant AI is not uncommon. Similarly, transcatheter valve replacements have been used for valve-in-valve treatment, in the pulmonary, aortic, and mitral positions, either via a retrograde femoral approach or antegrade transseptal approach (mitral valve-in-valve)...
March 15, 2017: Catheterization and Cardiovascular Interventions
https://www.readbyqxmd.com/read/28295517/a-giant-aneurysm-of-noncoronary-sinus-of-valsalva-concomitant-with-aortic-regurgitation-and-mitral-regurgitation
#3
Yi Luo, Zhi Fang, Wei Meng
Aneurysms of the sinus of Valsalva (ASV) are rare, with an incidence ranging from 0.1% to 3.5% of all congenital cardiac defects and a prevalence of 0.009% in an autopsy series.ASVs occur much more frequently in the right coronary sinus of Valsalva. Previous reports, based on necropsy and cardiac surgery findings, estimated that 20% of ASVs are unruptured. Patients with an unruptured ASV may remain asymptomatic for a long period of time until rupture. They may also presented with dyspnea, palpitation, and angina-like chest pain...
March 14, 2017: Echocardiography
https://www.readbyqxmd.com/read/28295225/the-association-between-sle-and-valvular-heart-disease-an-extensive-data-analysis
#4
Abdulla Watad, Shmuel Tiosano, Noam Grysman, Doron Comaneshter, Arnon D Cohen, Yehuda Shoenfeld, Howard Amital
BACKGROUND: Association between anti-phospholipid syndrome (APS) in systemic lupus erythematosus (SLE) and valvular heart disease (VHD) is well reported, but relatively few studies have been done to establish the linkage between VHD and SLE itself. OBJECTIVES: To investigate the link between VHD and SLE and to evaluate the association of diverse factors with VHD among these patients in a large-scale population-based study. METHODS: We used the databases of the largest state-mandated health service organization in Israel...
March 10, 2017: European Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28290174/when-not-to-go-solo-contraindications-based-on-implant-experience
#5
Laurens W Wollersheim, Wilson W Li, Abdullah Kaya, Wim J van Boven, Jan van der Meulen, Bas A de Mol
BACKGROUND: Because of the design and specific implantation technique of the stentless Freedom SOLO bioprosthesis, patient selection is crucial. The aim of the study was to discuss the contraindications to this prosthesis based on the authors' implant experience. METHODS: Between April 2005 and February 2015, one surgeon at the authors' center performed 292 aortic valve replacements using a bioprosthesis, with the initial intention of implanting a SOLO valve in every patient...
November 2016: Journal of Heart Valve Disease
https://www.readbyqxmd.com/read/28283844/long-term-survival-and-cardiopulmonary-outcome-in-children-with-hurler-syndrome-after-haematopoietic-stem-cell-transplantation
#6
Su Han Lum, Karolina M Stepien, Arunabha Ghosh, Alexander Broomfield, Heather Church, Jean Mercer, Simon Jones, Robert Wynn
Premature death in untreated children with Hurler syndrome (HS) in the first decade of life is largely due to life-threatening cardiopulmonary complications. We examined the long-term survival and cardiopulmonary outcome in 54 children undergoing haematopoietic stem cell transplantation (HSCT) at the Royal Manchester Children's Hospital from 1985 to 2008. The median age at first HSCT was 15.1 months. Eighteen had graft failure and nine died after first HSCT. Of 18 patients with graft failure, 17 underwent second HSCT and the remaining one was lost to follow-up (LOF)...
March 10, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28269006/prediction-of-individual-prosthesis-size-for-valve-sparing-aortic-root-reconstruction-based-on-geometric-features
#7
J Hagenah, E Werrmann, M Scharfschwerdt, F Ernst, C Metzner
Valve-sparing aortic root reconstruction is an up- and-coming approach for patients suffering from aortic valve insufficiencies which promises to significantly reduce complications. However, the success of the treatment strongly depends on the challenging task of choosing the correct size of the prosthesis, for which, up to now, surgeons solely have to rely on their experience. Here, we present a novel machine learning based approach, which might make it possible to predict the size of the prosthesis from pre-operatively acquired ultrasound images...
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/28268004/aortic-shear-stress-in-patients-with-bicuspid-aortic-valve-with-stenosis-and-insufficiency
#8
Yan Shan, Jun Li, Yongshi Wang, Boting Wu, Alex J Barker, Michael Markl, Chunsheng Wang, Xiaolin Wang, Xianhong Shu
OBJECTIVES: Bicuspid aortic valve, characterized by valve malformation and risk for aortopathy, displays profound alteration in systolic aortic outflow and wall shear stress distribution. The present study performed 4-dimensional flow magnetic resonance imaging in patients with bicuspid aortic valve with right-left cusp fusion, focusing on the impact of valve function on hemodynamic status within the ascending aorta. METHODS: Four-dimensional flow magnetic resonance imaging was performed in 50 subjects with right-left bicuspid aortic valve and 15 age- and aortic size-matched controls with tricuspid aortic valve...
February 10, 2017: Journal of Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/28266345/arterial-stiffness-and-cognitive-function
#9
Laure Joly
Arterial stiffness is an independent predictor of morbidity (infarction, fatal stroke) and cardiovascular mortality, especially in elderly, hypertensive patients with pre-terminal renal insufficiency and in coronary disease patients. The gold standard of its measurement is the pulse wave velocity assessment. The important increase in arterial stiffness that occurs during midlife is associated with the occurrence of severe cardiovascular and cerebrovascular events and also cognitive decline. The causal relationship between stiffening of the arterial tree and cognitive disorders has not yet been clearly established, however, many studies show a relationship between higher levels of aortic stiffness and poorer performance on cognitive memory tests...
March 1, 2017: Gériatrie et Psychologie Neuropsychiatrie du Vieillissement
https://www.readbyqxmd.com/read/28264924/relations-of-arterial-stiffness-with-postural-change-in-mean-arterial-pressure-in-middle-aged-adults-the-framingham-heart-study
#10
Alyssa Torjesen, Leroy L Cooper, Jian Rong, Martin G Larson, Naomi M Hamburg, Daniel Levy, Emelia J Benjamin, Ramachandran S Vasan, Gary F Mitchell
Impaired regulation of blood pressure on standing can lead to adverse outcomes, including falls, syncope, and disorientation. Mean arterial pressure (MAP) typically increases on standing; however, an insufficient increase or a decline in MAP on standing may result in decreased cerebral perfusion. Orthostatic hypotension has been reported in older people with increased arterial stiffness, whereas the association between orthostatic change in MAP and arterial stiffness in young- to middle-aged individuals has not been examined...
April 2017: Hypertension
https://www.readbyqxmd.com/read/28253885/the-nuclear-factor-erythroid-derived-2-like-2-nrf2-activator-dh404-protects-against-diabetes-induced-endothelial-dysfunction
#11
Arpeeta Sharma, Luddwi Rizky, Nada Stefanovic, Mitchel Tate, Rebecca H Ritchie, Keith W Ward, Judy B de Haan
BACKGROUND: Vascular dysfunction is a pivotal event in the development of diabetes-associated vascular disease. Increased inflammation and oxidative stress are major contributors to vascular dysfunction. Nrf2, a master regulator of several anti-oxidant genes and a suppressor of inflammatory NF-κB, has potential as a target to combat oxidative stress and inflammation. The aim of this study was to investigate the effects of a novel Nrf2 activator, the bardoxolone methyl derivative dh404, on endothelial function in vitro and in vivo...
March 3, 2017: Cardiovascular Diabetology
https://www.readbyqxmd.com/read/28247307/automated-diagnosis-of-heart-sounds-using-rule-based-classification-tree
#12
Mohamed Esmail Karar, Sahar H El-Khafif, Mohamed A El-Brawany
In order to assist the diagnosis procedure of heart sound signals, this paper presents a new automated method for classifying the heart status using a rule-based classification tree into normal and three abnormal cases; namely the aortic valve stenosis, aortic insufficient, and ventricular septum defect. The developed method includes three main steps as follows. First, one cycle of the heart sound signals is automatically detected and segmented based on time properties of the heart signals. Second, the segmented cycle is preprocessed with the discrete wavelet transform and then largest Lyapunov exponents are calculated to generate the dynamical features of heart sound time series...
April 2017: Journal of Medical Systems
https://www.readbyqxmd.com/read/28241354/effect-of-fibrinogen-concentrate-on-intraoperative-blood-loss-among-patients-with-intraoperative-bleeding-during-high-risk-cardiac-surgery-a-randomized-clinical-trial
#13
RANDOMIZED CONTROLLED TRIAL
Süleyman Bilecen, Joris A H de Groot, Cor J Kalkman, Alexander J Spanjersberg, George J Brandon Bravo Bruinsma, Karel G M Moons, Arno P Nierich
Importance: Fibrinogen concentrate might partly restore coagulation defects and reduce intraoperative bleeding. Objective: To determine whether fibrinogen concentrate infusion dosed to achieve a plasma fibrinogen level of 2.5 g/L in high-risk cardiac surgery patients with intraoperative bleeding reduces intraoperative blood loss. Design, Setting, and Participants: A randomized, placebo-controlled, double-blind clinical trial conducted in Isala Zwolle, the Netherlands (February 2011-January 2015), involving patients undergoing elective, high-risk cardiac surgery (ie, combined coronary artery bypass graft [CABG] surgery and valve repair or replacement surgery, the replacement of multiple valves, aortic root reconstruction, or reconstruction of the ascending aorta or aortic arch) with intraoperative bleeding (blood volume between 60 and 250 mL suctioned from the thoracic cavity in a period of 5 minutes) were randomized to receive either fibrinogen concentrate or placebo...
February 21, 2017: JAMA: the Journal of the American Medical Association
https://www.readbyqxmd.com/read/28238237/immediate-early-and-late-failure-after-transcatheter-aortic-valve-implantation-how-to-deal-with-the-inoperable
#14
Sabina P W Guenther, Maximilian A Pichlmaier, Erik Bagaev, Florian Herrmann, René Schramm, Steffen Massberg, Christian Hagl, Nawid Khaladj
BACKGROUND: Currently, the use of transcatheter aortic valve implantation (TAVI) is constantly increasing, whilst cardiosurgical back-up varies substantially. Besides immediate conversion to surgical aortic valve replacement (SAVR) for periprocedural complications, SAVR for TAV failure may be necessary within the early or late post-implant course. The etiology, incidence, risk-stratification, management and outcome for both scenarios are largely unclear. The study aim was to provide details of the authors' experience of SAVR after the failure of TAVI at a single institution...
September 2016: Journal of Heart Valve Disease
https://www.readbyqxmd.com/read/28233478/effects-of-david-%C3%A2-operation-in-the-treatment-of-aortic-root-disease-combined-with-aortic-insufficiency
#15
Ji-Dan Fan, Yu-Sheng Shu, Xin-Min Zhou, Zhao-Shun Yuan, Xiao-Bo Liao, Wei-Ping Shi, Min Yang
BACKGROUND: We compared the effects of the new David Ⅰoperation and classical Bentall operation in the treatment of aortic root disease combined with aortic insufficiency. METHODS: A total of 60 cases of patients with aortic root disease combined with aortic insufficiency diagnosed at our hospital from January 2010 to January 2016 were analyzed retrospectively, including 32 cases of aortic root aneurysm, 18 cases of aortic dissection, 5 cases of hypertension combined with atherosclerosis, 2 cases of retrogression, 2 cases of rheumatic heart disease and 1 case of takayasu arteritis...
February 23, 2017: Minerva Chirurgica
https://www.readbyqxmd.com/read/28231917/sapien-s3-leaflet-malfunction-with-severe%C3%A2-intravalvular-aortic-insufficiency-immediately-post-deployment
#16
Gagan D Singh, Jeffrey A Southard, Thomas W Smith, Walter D Boyd, Garrett B Wong, Paul A Perry, Reginald I Low
No abstract text is available yet for this article.
February 27, 2017: JACC. Cardiovascular Interventions
https://www.readbyqxmd.com/read/28227216/prediction-of-individual-prosthesis-size-for-valve-sparing-aortic-root-reconstruction-based-on-geometric-features
#17
J Hagenah, E Werrmann, M Scharfschwerdt, F Ernst, C Metzner, J Hagenah, E Werrmann, M Scharfschwerdt, F Ernst, C Metzner, C Metzner, E Werrmann, J Hagenah, F Ernst, M Scharfschwerdt
Valve-sparing aortic root reconstruction is an up- and-coming approach for patients suffering from aortic valve insufficiencies which promises to significantly reduce complications. However, the success of the treatment strongly depends on the challenging task of choosing the correct size of the prosthesis, for which, up to now, surgeons solely have to rely on their experience. Here, we present a novel machine learning based approach, which might make it possible to predict the size of the prosthesis from pre-operatively acquired ultrasound images...
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/28224216/vascular-surgery-the-main-risk-factor-for-mortality-in-146-takayasu-arteritis-patients
#18
Nilton Salles Rosa Neto, Samuel Katsuyuki Shinjo, Maurício Levy-Neto, Rosa Maria Rodrigues Pereira
Takayasu arteritis (TA) is an idiopathic chronic inflammatory disease that affects the aorta and its main branches. According to disease involvement, patients may require surgical treatment mainly due ischemic lesions in association with medical therapy. We evaluated the impact of vascular interventions in a cohort of TA patients. Medical records from 146 TA patients were reviewed. Clinical features, medical, and surgical treatment were revised and disease activity was determined by clinical, laboratorial, and imaging parameters...
February 21, 2017: Rheumatology International
https://www.readbyqxmd.com/read/28216360/the-influence-of-prototype-testing-in-three-dimensional-aortic-models-on-fenestrated-endograft-design
#19
Fadi Taher, Juergen Falkensammer, Jamie McCarte, Johann Strassegger, Miriam Uhlmann, Philipp Schuch, Afshin Assadian
OBJECTIVE: The fenestrated Anaconda endograft (Vascutek/Terumo, Inchinnan, UK) is intended for the treatment of abdominal aortic aneurysms with an insufficient infrarenal landing zone. The endografts are custom-made with use of high-resolution, 1-mm-slice computed tomography angiography images. For every case, a nonsterile prototype and a three-dimensional (3D) model of the patient's aorta are constructed to allow the engineers as well as the physician to test-implant the device and to review the fit of the graft...
February 16, 2017: Journal of Vascular Surgery
https://www.readbyqxmd.com/read/28214965/surgical-correction-of-aberrant-right-coronary-anomalies-stranding-an-aortic-commissure-with-and-without-unroofing
#20
Khaled Abdelhady, Samarth Durgam, Chawki Elzein, Michel N Ilbawi, David Rhoiney, Malek G Massad
The technique for successful surgical correction of an anomalous origin of the right coronary artery from the opposite aortic cusp with an aberrant course between the aorta and pulmonary artery is illustrated in a symptomatic 62-year-old woman. The intramural course of the right coronary artery traversed the tip of the commissure between the anterior and posterior leaflets, and its repair entailed unroofing of the intramural segment from inside the aortic intima. This technique required resuspension of the overlying commissure to maintain optimal aortic valve leaflet coaptation and prevent aortic insufficiency...
February 18, 2017: Pediatric Cardiology
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