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Cardiac disability

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https://www.readbyqxmd.com/read/28540212/infarct-characterization-using-ct
#1
REVIEW
Ludovico La Grutta, Patrizia Toia, Erica Maffei, Filippo Cademartiri, Roberto Lagalla, Massimo Midiri
Myocardial infarction (MI) is a major cause of death and disability worldwide. The incidence is not expected to diminish, despite better prevention, diagnosis and treatment, because of the ageing population in industrialized countries and unhealthy lifestyles in developing countries. Nowadays it is highly requested an imaging tool able to evaluate MI and viability. Technology improvements determined an expansion of clinical indications from coronary plaque evaluation to functional applications (perfusion, ischemia and viability after MI) integrating additional phases and information in the mainstream examination...
April 2017: Cardiovascular Diagnosis and Therapy
https://www.readbyqxmd.com/read/28530671/cardiopulmonary-assessment-of-patients-with-systemic-sclerosis-for-hematopoietic-stem-cell-transplantation-recommendations-from-the-european-society-for-blood-and-marrow-transplantation-autoimmune-diseases-working-party-and-collaborating-partners
#2
REVIEW
D Farge, R K Burt, M-C Oliveira, E Mousseaux, M Rovira, Z Marjanovic, J de Vries-Bouwstra, N Del Papa, R Saccardi, S J Shah, D C Lee, C Denton, T Alexander, D G Kiely, J A Snowden
Systemic sclerosis (SSc) is a rare disabling autoimmune disease with a similar mortality to many cancers. Two randomized controlled trials of autologous hematopoietic stem cell transplantation (AHSCT) for SSc have shown significant improvement in organ function, quality of life and long-term survival compared to standard therapy. However, transplant-related mortality (TRM) ranged from 3-10% in patients undergoing HSCT. In SSc, the main cause of non-transplant and TRM is cardiac related. We therefore updated the previously published guidelines for cardiac evaluation, which should be performed in dedicated centers with expertize in HSCT for SSc...
May 22, 2017: Bone Marrow Transplantation
https://www.readbyqxmd.com/read/28530332/-treatment-of-mechanically-ventilated-patients-in-an-internal-medicine-department-overview-2013
#3
Jacov Kogan, Alex Rodnitsky, Ornit Cohen, Svetlana Turkot, Yevgenia Tziba, Boris Golzman
BACKGROUND: Over recent years the number of mechanically ventilated patients in internal medicine departments has grown. These patients are elderly, mostly disabled and suffer from many chronic illnesses. Most of them require prolonged mechanical ventilation. OBJECTIVES: The study aimed to evaluate the population of mechanically ventilated patients in an internal department, the treatment and outcomes, particularly the morbidity in hospitalization and to identify the prognostic causes of death...
August 2016: Harefuah
https://www.readbyqxmd.com/read/28527782/protective-roles-of-bioactive-peptides-during-ischemia-reperfusion-injury-from-bench-to-bedside
#4
REVIEW
Dongdong Wu, Jun Wang, Honggang Wang, Ailing Ji, Yanzhang Li
Ischemia-reperfusion (I/R) is a well-known pathological condition which may lead to disability and mortality. I/R injury remains an unresolved and complicated situation in a number of clinical conditions, such as cardiac arrest with successful reanimation, as well as ischemic events in brain and heart. Peptides have many attractive advantages which make them suitable candidate drugs in treating I/R injury, such as low toxicity and immunogenicity, good solubility property, distinct tissue distribution pattern, and favorable pharmacokinetic profile...
May 17, 2017: Life Sciences
https://www.readbyqxmd.com/read/28507439/infrainguinal-open-reconstruction-a-review-of-surgical-considerations-and-expected-outcomes
#5
REVIEW
Sevan R Komshian, Kimberly Lu, Steven L Pike, Jeffrey J Siracuse
Infrainguinal arterial occlusive disease can lead to potentially disabling and limb-threatening conditions. Revascularization may be indicated for claudication, rest pain, or tissue loss. Although endovascular interventions are becoming more prevalent, open surgeries such as endarterectomy and bypass are still needed and performed regularly. Open reconstruction has been associated with postoperative morbidity, both at the local and at the systemic levels. Local complications include surgical site infections (SSIs 0-5...
2017: Vascular Health and Risk Management
https://www.readbyqxmd.com/read/28497927/the-potential-role-of-pain-related-sseps-in-the-early-prognostication-of-long-term-functional-outcome-in-post-anoxic-coma
#6
Alessandra Del Felice, Stefano Bargellesi, Federico Linassi, Bruno Scarpa, Emanuela Formaggio, Paolo Boldrini, Stefano Masiero, Paolo Zanatta
BACKGROUND: Cardiac arrest (CA) is a common cause of disability. Multimodal evaluation has improved prognosis but precocious biomarkers are not appropriate in determining long-term functional outcome. AIM: to identify early prognostication markers of long-term functional outcome in post-anoxic coma. DESIGN: retrospective assessment of outcomes. POPULATION: Individuals older than 18 years with post-anoxic coma hospitalized in intensive care units after cardiac arrest (CA) regardless of cause (cardiac or non-cardiac) and location of event (in or out-of-hospital)...
May 12, 2017: European Journal of Physical and Rehabilitation Medicine
https://www.readbyqxmd.com/read/28496331/clinical-and-genetic-characteristics-in-a-group-of-45-patients-with-turner-syndrome-monocentric-study
#7
Simona Bucerzan, Diana Miclea, Radu Popp, Camelia Alkhzouz, Cecilia Lazea, Ioan Victor Pop, Paula Grigorescu-Sido
INTRODUCTION: Recent years have seen a shift in perspective on Turner syndrome, as it is no longer considered a significant disability due to therapeutic advances. The delay of diagnosis and the underdiagnosis are common in Turner syndrome, especially because of the great phenotypic variability and lack of firm diagnostic criteria. AIM: Our first aim was to assess the clinical and the cytogenetic characteristics and growth rate in growth hormone (GH)-treated patients as compared to those with spontaneous growth...
2017: Therapeutics and Clinical Risk Management
https://www.readbyqxmd.com/read/28492564/-heart-rate-as-a-therapeutic-target-after-acute-coronary-syndrome-and-in-chronic-coronary-heart-disease
#8
Marco Ambrosetti, Giuseppe Scardina, Giuseppe Favretto, Pier Luigi Temporelli, Pompilio Massimo Faggiano, Cesare Greco, Roberto Franco Pedretti
For patients with stable coronary artery disease (SCAD), either after hospitalization for acute cardiac events or in the chronic phase, comprehensive treatment programs should be devoted to: (i) reducing mortality and major adverse cardiovascular events, (ii) reducing the ischemic burden and related symptoms, and (iii) increasing exercise capacity and quality of life.Heart rate (HR) has demonstrated to have prognostic value and patients beyond the limit of 70 bpm display increased risk of all the above adverse outcomes, even after adjustment for parameters such as the extension of myocardial infarction and the presence of heart failure...
March 2017: Giornale Italiano di Cardiologia
https://www.readbyqxmd.com/read/28491088/novel-biomarkers-for-cardiovascular-risk-prediction
#9
REVIEW
Juan Wang, Guo-Juan Tan, Li-Na Han, Yong-Yi Bai, Miao He, Hong-Bin Liu
Cardiovascular disease (CVD) is the leading cause of death and disability worldwide. The primary prevention of CVD is dependent upon the ability to identify high-risk individuals long before the development of overt events. This highlights the need for accurate risk stratification. An increasing number of novel biomarkers have been identified to predict cardiovascular events. Biomarkers play a critical role in the definition, prognostication, and decision-making regarding the management of cardiovascular events...
February 2017: Journal of Geriatric Cardiology: JGC
https://www.readbyqxmd.com/read/28488351/homozygous-microdeletion-of-the-eri1-and-mfhas1-genes-in-a-patient-with-intellectual-disability-limb-abnormalities-and-cardiac-malformation
#10
Nancy Choucair, Mariam Rajab, André Mégarbané, Eliane Chouery
A male child, born from consanguineous parents and having intellectual disability, short stature, dysmorphic facial features, synpolydactyly, and cardiac malformations is reported. Chromosomal microarray analysis showed that the patient presents with an 8p23.1 homozygous deletion, containing the microRNA miR-4660, the exoribonuclease 1 (ERI1), and malignant fibrous histiocytoma amplified sequence 1 (MFHAS1) genes. The microRNA miR-4660 has no known function. MFHAS1 is an immunomodulatory protein involved in Toll-like receptor signaling, erythropoiesis, and cancer...
May 9, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28484830/insights-on-mid-term-tavr-performance-3-year-clinical-and-echocardiographic-results-from-the-corevalve-advance-study
#11
Sabine Bleiziffer, Johan Bosmans, Stephen Brecker, Ulrich Gerckens, Peter Wenaweser, Corrado Tamburino, Axel Linke
BACKGROUND: Extensive evidence relating to transcatheter aortic valve replacement (TAVR) has accumulated in recent years, but mid-term outcomes are less reported. We investigated 996 patients after implantation of the CoreValve prosthesis for severe aortic stenosis in a real-world setting. OBJECTIVE: To report clinical and echocardiographic 3-year results from the ADVANCE study. METHODS: ADVANCE is a prospective, multicenter, fully monitored, nonrandomized clinical study...
May 8, 2017: Clinical Research in Cardiology: Official Journal of the German Cardiac Society
https://www.readbyqxmd.com/read/28464518/6q25-1-tab2-microdeletion-syndrome-congenital-heart-defects-and-cardiomyopathy
#12
Andrew Cheng, Mary Beth P Dinulos, Whitney Neufeld-Kaiser, Jill Rosenfeld, McKenna Kyriss, Suneeta Madan-Khetarpal, Hiba Risheg, Peter H Byers, Yajuan J Liu
Congenital heart defects (CHD) are the most frequent type of congenital anomaly and are often associated with genetic and chromosomal syndromes. Haploinsufficiency of TAB2 (TGF-beta activated kinase 1/MAP3K7 binding protein 2) has been proposed to cause valvular and cardiac outflow tract structural abnormalities. In this study, we describe 13 newly identified individuals with microdeletions of chromosome 6q25.1 that involve TAB2. One of the patients in our study cohort has the smallest deletion yet reported, affecting only TAB2...
May 2, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28464487/a-novel-xp22-13-microdeletion-in-nance-horan-syndrome
#13
Andrea Accogli, Monica Traverso, Francesca Madia, Tommaso Bellini, Maria Stella Vari, Francesca Pinto, Valeria Capra
BACKGROUND: Nance-Horan syndrome (NHS) is a rare X-linked developmental disorder characterized by congenital cataract, dental anomalies and facial dysmorphisms. Notably, up to 30% of NHS patients have intellectual disability and a few patients have been reported to have congenital cardiac defects. Nance-Horan syndrome is caused by mutations in the NHS gene that is highly expressed in the midbrain, retina, lens, tooth, and is conserved across vertebrate species. Although most pathogenic mutations are nonsense mutations, a few genomic rearrangements involving NHS locus have been reported, suggesting a possible pathogenic role of the flanking genes...
May 2, 2017: Birth Defects Res
https://www.readbyqxmd.com/read/28456886/mutations-in-gmppb-presenting-with-pseudometabolic-myopathy
#14
Chiara Panicucci, Chiara Fiorillo, Francesca Moro, Guja Astrea, Giacomo Brisca, Federica Trucco, Marina Pedemonte, Paola Lanteri, Lucia Sciarretta, Carlo Minetti, Filippo M Santorelli, Claudio Bruno
Mutations in the guanosine diphosphate mannose (GDP-mannose) pyrophosphorylase B (GMPPB) gene encoding a key enzyme of the glycosylation pathway have been described in families with congenital (CMD) and limb girdle (LGMD) muscular dystrophy with reduced alpha-dystroglycan (α-DG) at muscle biopsy.Patients typically display a combined phenotype of muscular dystrophy, brain malformations, and generalized epilepsy. However, a wide spectrum of clinical severity has been described ranging from classical CMD presentation to children with mild, yet progressive LGMD with or without intellectual disability...
April 30, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28451835/significance-of-sequential-cardiac-rehabilitation-program-through-inter-hospital-cooperation-between-acute-care-and-rehabilitation-hospitals-in-elderly-patients-after-cardiac-surgery-in-japan
#15
Tomoyuki Morisawa, Katsuhiro Ueno, Yuko Fukuda, Naoto Kanazawa, Hiroshi Kawaguchi, Rikito Zaiki, Hiroaki Fuzisaki, Haruka Yoshioka, Maki Sasaki, Kentaro Iwata, Tadaaki Koyama, Takeshi Kitai, Yutaka Furukawa, Tetsuya Takahashi
This study is to evaluate the impact of cooperation between acute care hospital and rehabilitation hospital on physical function, exercise tolerance, activities of daily living (ADL), health-related quality of life (HR-QOL), and psychological function in heart disease patients undergoing cardiac rehabilitation. Among patients undergoing concurrent medical treatment and cardiac rehabilitation starting early in acute care hospitalization, we selected 30 patients who required continued cardiac rehabilitation in rehabilitation hospitals as subjects...
April 27, 2017: Heart and Vessels
https://www.readbyqxmd.com/read/28449295/kbg-syndrome-an-australian-experience
#16
Natalia Murray, Bronwyn Burgess, Robin Hay, Alison Colley, Sulekha Rajagopalan, Julie McGaughran, Chirag Patel, Annabelle Enriquez, Linda Goodwin, Zornitza Stark, Tiong Tan, Meredith Wilson, Tony Roscioli, Mustafa Tekin, Himanshu Goel
In 2011, heterozygous mutations in the ANKRD11 gene were identified in patients with KBG syndrome. Since then, 100 cases have been described with the expansion of the clinical phenotype. Here we present 18 KBG affected individuals from 13 unrelated families, 16 with pathogenic mutations in the ANKRD11 gene. Consistent features included intellectual disability, macrodontia, and the characteristic broad forehead with hypertelorism, and a prominent nasal bridge. Common features included hand anomalies, cryptorchidism, and a large number of palate abnormalities...
April 27, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28438326/transapical-transcatheter-aortic-valve-implantation-using-the-j-valve-system-a-1-year-follow-up-study
#17
Xiang Luo, Xu Wang, Xuan Li, Xin Wang, Fei Xu, Mingzheng Liu, Bing Yu, Fei Li, Minghui Tong, Wei Wang
OBJECTIVE: Transcatheter aortic valve implantation has become a routine procedure to treat screened inoperable or high-risk patients. In this study, we present the first outcome of echocardiographic midterm using a new second-generation transcatheter aortic valve implantation system, the J-Valve system (Jie Cheng Medical Technologies, Suzhou, China), in patients with aortic stenosis or aortic regurgitation. METHODS: From July 2014 to June 2015, 21 patients with isolated aortic valve disease at high risk for open surgery received transapical transcatheter aortic valve implantation using the J-Valve system...
March 23, 2017: Journal of Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/28430695/cerebral-recovery-index-reliable-help-for-prediction-of-neurologic-outcome-after-cardiac-arrest
#18
Marleen C Tjepkema-Cloostermans, Jeannette Hofmeijer, Albertus Beishuizen, Harold W Hom, Michiel J Blans, Frank H Bosch, Michel J A M van Putten
OBJECTIVE: Early electroencephalography measures contribute to outcome prediction of comatose patients after cardiac arrest. We present predictive values of a new cerebral recovery index, based on a combination of quantitative electroencephalography measures, extracted every hour, and combined by the use of a random forest classifier. DESIGN: Prospective observational cohort study. SETTING: Medical ICU of two large teaching hospitals in the Netherlands...
April 20, 2017: Critical Care Medicine
https://www.readbyqxmd.com/read/28422132/haploinsufficiency-for-ankrd11-flanking-genes-makes-the-difference-between-kbg-and-16q24-3-microdeletion-syndromes-12-new-cases
#19
Francesca Novara, Berardo Rinaldi, Sanjay M Sisodiya, Antonietta Coppola, Sabrina Giglio, Franco Stanzial, Francesco Benedicenti, Alan Donaldson, Joris Andrieux, Rachel Stapleton, Astrid Weber, Paolo Reho, Conny van Ravenswaaij-Arts, Wilhelmina S Kerstjens-Frederikse, Joris Robert Vermeesch, Koenraad Devriendt, Carlos A Bacino, Andrée Delahaye, S M Maas, Achille Iolascon, Orsetta Zuffardi
16q24 deletion involving the ANKRD11 gene, ranging from 137 kb to 2 Mb, have been associated with a microdeletion syndrome characterized by variable cognitive impairment, autism spectrum disorder, facial dysmorphisms with dental anomalies, brain abnormalities essentially affecting the corpus callosum and short stature. On the other hand, patients carrying either deletions encompassing solely ANKRD11 or its loss-of-function variants were reported in association with the KBG syndrome, characterized by a very similar phenotype, including mild-to-moderate intellectual disability, short stature and macrodontia of upper incisors, with inter and intrafamilial variability...
June 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28419120/structural-and-functional-changes-in-the-microcirculation-of-lepromatous-leprosy-patients-observation-using-orthogonal-polarization-spectral-imaging-and-laser-doppler-flowmetry-iontophoresis
#20
Curt Treu, Maria das Graças Coelho de Souza, Omar Lupi, Fernando Lencastre Sicuro, Priscila Alves Maranhão, Luiz Guilherme Kraemer-Aguiar, Eliete Bouskela
Leprosy is a chronic granulomatous infection of skin and peripheral nerves caused by Mycobacterium leprae and is considered the main infectious cause of disability worldwide. Despite the several studies regarding leprosy, little is known about its effects on microvascular structure and function in vivo. Thus, we have aimed to compare skin capillary structure and functional density, cutaneous vasomotion (spontaneous oscillations of arteriolar diameter), which ensures optimal blood flow distribution to skin capillaries) and cutaneous microvascular blood flow and reactivity between ten men with lepromatous leprosy (without any other comorbidity) and ten age- and gender-matched healthy controls...
2017: PloS One
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