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https://www.readbyqxmd.com/read/28087566/application-of-whole-exome-sequencing-in-the-clinical-diagnosis-and-management-of-inherited-cardiovascular-diseases-in-adults
#1
Sara B Seidelmann, Emily Smith, Lakshman Subrahmanyan, Daniel Dykas, Maen D Abou Ziki, Bani Azari, Fady Hannah-Shmouni, Yuexin Jiang, Joseph G Akar, Mark Marieb, Daniel Jacoby, Allen E Bale, Richard P Lifton, Arya Mani
BACKGROUND: With the advent of high throughput sequencing, the identification of genetic causes of cardiovascular disease (CVD) has become an integral part of medical diagnosis and management and at the forefront of personalized medicine in this field. The use of whole exome sequencing for clinical diagnosis, risk stratification, and management of inherited CVD has not been previously evaluated. METHODS AND RESULTS: We analyzed the results of whole exome sequencing in first 200 adult patients with inherited CVD, who underwent genetic testing at the Yale Program for Cardiovascular Genetics...
February 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28087362/clinical-phenotypes-and-outcomes-of-heritable-and-sporadic-pulmonary-veno-occlusive-disease-a-population-based-study
#2
David Montani, Barbara Girerd, Xavier Jaïs, Marilyne Levy, David Amar, Laurent Savale, Peter Dorfmüller, Andrei Seferian, Edmund M Lau, Mélanie Eyries, Jérôme Le Pavec, Florence Parent, Damien Bonnet, Florent Soubrier, Elie Fadel, Olivier Sitbon, Gérald Simonneau, Marc Humbert
BACKGROUND: Bi-allelic mutations of the EIF2AK4 gene cause heritable pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis (PVOD/PCH). We aimed to assess the effect of EIF2AK4 mutations on the clinical phenotypes and outcomes of PVOD/PCH. METHODS: We did a population-based study using clinical, functional, and haemodynamic data from the registry of the French Pulmonary Hypertension Network. We reviewed the clinical data and outcomes from all patients referred to the French Referral Centre (Pulmonary Department, Hospital Kremlin-Bicêtre, University Paris-Sud) with either confirmed or highly probable PVOD/PCH with DNA available for mutation screening (excluding patients with other risk factors of pulmonary hypertension, such as chronic respiratory diseases)...
January 10, 2017: Lancet Respiratory Medicine
https://www.readbyqxmd.com/read/28087288/outcome-of-adult-patients-attended-by-rapid-response-teams-a-systematic-review-of-the-literature
#3
REVIEW
Joonas Tirkkonen, Tero Tamminen, Markus Skrifvars
BACKGROUND: An abundance of studies have investigated the impact of rapid response teams (RRTs) on in-hospital cardiac arrest rates. However, existing RRT data appear highly variable in terms of both study quality and reported uses of limitations of care, patient survival and patient long-term outcome. METHODS: A systematic electronic literature search (January, 1990-March, 2016) of the PubMed and Cochrane databases was performed. Bibliographies of articles included in the full-text review were searched for additional studies...
January 10, 2017: Resuscitation
https://www.readbyqxmd.com/read/28087286/incidence-and-survival-outcome-according-to-heart-rhythm-during-resuscitation-attempt-in-out-of-hospital-cardiac-arrest-patients-with-presumed-cardiac-etiology
#4
Shahzleen Rajan, Fredrik Folke, Steen Møller Hansen, Carolina Malta Hansen, Kristian Kragholm, Thomas A Gerds, Freddy K Lippert, Lena Karlsson, Sidsel Møller, Lars Køber, Gunnar H Gislason, Christian Torp-Pedersen, Mads Wissenberg
BACKGROUND: Knowledge about heart rhythm conversion from non-shockable to shockable rhythm during resuscitation attempt after out-of-hospital cardiac arrest (OHCA) and following chance of survival is limited and inconsistent. METHODS: We studied 13,860 patients with presumed cardiac-caused OHCA not witnessed by the emergency medical services from the Danish Cardiac Arrest Register (2005-2012). Patients were stratified according to rhythm: shockable, converted shockable (based on receipt of subsequent defibrillation) and sustained non-shockable rhythm...
January 10, 2017: Resuscitation
https://www.readbyqxmd.com/read/28087245/the-severe-clinical-phenotype-for-a-heterozygous-fabry-female-patient-correlates-to-the-methylation-of-non-mutated-allele-associated-with-chromosome-10q26-deletion-syndrome
#5
Mohammad Arif Hossain, Hiroko Yanagisawa, Takashi Miyajima, Chen Wu, Ayumi Takamura, Keiko Akiyama, Rina Itagaki, Kaoru Eto, Takeo Iwamoto, Takayuki Yokoi, Kenji Kurosawa, Hironao Numabe, Yoshikatsu Eto
Heterozygous Fabry females usually have an attenuated form of Fabry disease, causing them to be symptomatic; however, in rare cases, they can present with a severe phenotype. In this study, we report on a 37-year-old woman with acroparesthesia, a dysmorphic face, left ventricular hypertrophy, and intellectual disability. Her father had Fabry disease and died due to chronic renal and congestive cardiac failure. Her paternal uncle had chronic renal failure and intellectual disability, and her paternal aunt was affected with congestive cardiac failure...
January 7, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28087184/clinical-characteristics-of-ruptured-distal-middle-cerebral-artery-aneurysms-review-of-the-literature
#6
REVIEW
Keiji Tsutsumi, Tetsuyoshi Horiuchi, Alhusain Nagm, Yasuyuki Toba, Kazuhiro Hongo
Middle cerebral artery (MCA) aneurysms usually arise at the primary MCA bifurcation or trifurcation. Distal MCA aneurysms are rarely considered as sources of aneurysmal subarachnoid hemorrhage (SAH). It has been reported that ruptured distal MCA aneurysms are associated with head trauma, neoplastic emboli, arterial dissection, or bacterial infection. We experienced five cases of ruptured distal MCA aneurysms and evaluated their clinical characteristics. Retrospective analysis of aneurysmal SAH at Kobayashi Neurosurgical Neurological Hospital was performed from January, 2004 to December, 2014...
January 10, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/28087181/challenging-the-99th-percentile-a-lower-troponin-cutoff-leads-to-low-mortality-of-chest-pain-patients
#7
Nils Arne Sörensen, Johannes Tobias Neumann, Francisco Ojeda, Tjark Schwemer, Thomas Renné, Renate B Schnabel, Tanja Zeller, Mahir Karakas, Stefan Blankenberg, Dirk Westermann
BACKGROUND: Rule-out of non-ST-elevation myocardial infarction is based on consecutive measurements of cardiac troponins using the 99th percentile of the respective assay as cutoff. The new ESC guidelines alternatively offer rapid 1h algorithms with lower cutoffs than the 99th percentile for rule-out of non-ST-elevation myocardial infarction. We aimed to compare a recently introduced 1h algorithm based on a high-sensitivity cardiac troponin I (hs-TnI) cutoff of 6ng/L at 0h and 1h to the current standard of care using the 99th percentile (27ng/L) as cutoff with reference to follow-up events in a large chest pain cohort...
December 27, 2016: International Journal of Cardiology
https://www.readbyqxmd.com/read/28086847/cardiac-sarcoidosis-resembling-panic-disorder-a-case-report
#8
Keita Tokumitsu, Jun Demachi, Yukichi Yamanoi, Shigeto Oyama, Junko Takeuchi, Koji Yachimori, Norio Yasui-Furukori
BACKGROUND: Sarcoidosis is a systemic disease of unknown etiology, in which granulomas develop in various organs, including the skin, lungs, eyes, or heart. It has been reported that patients with sarcoidosis are more likely to develop panic disorder than members of the general population. However, there are many unknown factors concerning the causal relationship between these conditions. CASE PRESENTATION: We present the case of a 57-year-old woman who appeared to have panic disorder, as she experienced repeated panic attacks induced by transient complete atrioventricular block, associated with cardiac sarcoidosis...
January 13, 2017: BMC Psychiatry
https://www.readbyqxmd.com/read/28086784/health-related-quality-of-life-assessment-in-acute-coronary-syndrome-patients-the-effectiveness-of-early-phase-i-cardiac-rehabilitation
#9
Lawrence Anchah, Mohamed Azmi Hassali, Melissa Siaw Han Lim, Mohamed Izham Mohamed Ibrahim, Kui Hian Sim, Tiong Kiam Ong
BACKGROUND: Acute Coronary Syndrome (ACS) is one of the most burdensome cardiovascular diseases in terms of the cost of interventions. The Cardiac Rehabilitation Programme (CRP) is well-established in improving clinical outcomes but the assessment of actual clinical improvement is challenging, especially when considering pharmaceutical care (PC) values in phase I CRP during admission and upon discharge from hospital and phase II outpatient interventions. This study explores the impact of pharmacists' interventions in the early stages of CRP on humanistic outcomes and follow-up at a referral hospital in Malaysia...
January 13, 2017: Health and Quality of Life Outcomes
https://www.readbyqxmd.com/read/28079972/prevalence-of-vomiting-in-dogs-with-pericardial-effusion
#10
Rachel Fahey, Elizabeth Rozanski, April Paul, John E Rush
BACKGROUND: Pericardial effusion (PE) is common in dogs. Clinical signs may be vague until cardiac tamponade and associated cardiovascular decompensation develops. Vomiting has previously been identified in some dogs, but the actual prevalence of vomiting in dogs with PE is unknown. The purpose of this study is to report the prevalence of vomiting associated with PE, and to determine if vomiting is associated with the underlying cause of effusion, presenting plasma lactate concentration, or volume of PE removed...
January 12, 2017: Journal of Veterinary Emergency and Critical Care
https://www.readbyqxmd.com/read/28079865/differences-in-mortality-characteristics-in-neonates-with-down-s-syndrome
#11
C L Cua, U Haque, S Santoro, L Nicholson, C H Backes
OBJECTIVE: Neonates with Down's syndrome (nDS) may have multiple medical issues that place them at increased risk for mortality during the newborn period. Goal of this study was to determine if there are differences in baseline characteristics, medical complications or procedures performed during hospitalization between nDS who survived versus those who died during initial hospitalization. STUDY DESIGN: Data from 2000 to 2014 were reviewed using the Pediatric Health Information Systems (PHIS) database on all DS patients admitted to the hospital <30 days postnatal life...
January 12, 2017: Journal of Perinatology: Official Journal of the California Perinatal Association
https://www.readbyqxmd.com/read/28079767/primary-gastric-choriocarcinoma-presenting-as-a-pregnancy-of-unknown-location
#12
Alyssa Larish, Amanika Kumar, Sarah Kerr, Carrie Langstraat
BACKGROUND: Pregnancy of unknown location presents a diagnostic challenge, in rare occasions leading to the diagnosis of malignancy. We describe a case of β-hCG-secreting nongestational primary gastric choriocarcinoma presenting as a pregnancy of unknown location. CASE: A 37-year-old woman, gravida 4 para 3013, presented with several days of vaginal bleeding and rising β-hCG level without ultrasound localization of pregnancy. The diagnosis of pregnancy of unknown location was made and methotrexate administered at a β-hCG level of 7,779 milli-international units/mL...
January 9, 2017: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28079663/general-anesthesia-and-fabry-disease-a-case-report
#13
Stefan Krüger, Albina Nowak, Torben Christoph Müller
Fabry disease is an inherited X-linked disorder characterized by the absence (in men) or deficiency (in women) in α-galactosidase A activity that causes a progressive accumulation of glycosphingolipids within lysosomes of cells of all the major organ systems. The subsequent organ damage that manifests in childhood and early adulthood presents a widely variable clinical picture of pain, hypertension, and cardiac, renal, nervous system, and lung dysfunction. We present 2 female patients with Fabry disease who required general anesthesia twice for gynecological and trauma surgery, respectively, and discuss their perioperative management based on new information in the medical literature...
January 11, 2017: A & A Case Reports
https://www.readbyqxmd.com/read/28079427/effect-of-functional-electrical-stimulation-on-cardiovascular-outcomes-in-patients-with-chronic-heart-failure
#14
Nikolaos Pe Kadoglou, Christina Mandila, Apostolos Karavidas, Dimitrios Farmakis, Vasiliki Matzaraki, Christos Varounis, Sofia Arapi, Anastasia Perpinia, John Parissis
Background/design Functional electrical stimulation of lower limb muscles is an alternative method of training in patients with chronic heart failure (CHF). Although it improves exercise capacity in CHF, we performed a randomised, placebo-controlled study to investigate its effects on long-term clinical outcomes. Methods We randomly assigned 120 patients, aged 71 ± 8 years, with stable CHF (New York Heart Association (NYHA) class II/III (63%/37%), mean left ventricular ejection fraction 28 ± 5%), to either a 6-week functional electrical stimulation training programme or placebo...
January 1, 2017: European Journal of Preventive Cardiology
https://www.readbyqxmd.com/read/28079394/the-positive-emotions-after-acute-coronary-events-behavioral-health-intervention-design-rationale-and-preliminary-feasibility-of-a-factorial-design-study
#15
Jeffery C Huffman, Ariana M Albanese, Kirsti A Campbell, Christopher M Celano, Rachel A Millstein, Carol A Mastromauro, Brian C Healy, Wei-Jean Chung, James L Januzzi, Linda M Collins, Elyse R Park
BACKGROUND: Positive psychological constructs, such as optimism, are associated with greater participation in cardiac health behaviors and improved cardiac outcomes. Positive psychology interventions, which target psychological well-being, may represent a promising approach to improving health behaviors in high-risk cardiac patients. However, no study has assessed whether a positive psychology intervention can promote physical activity following an acute coronary syndrome. OBJECTIVE: In this article we will describe the methods of a novel factorial design study to aid the development of a positive psychology-based intervention for acute coronary syndrome patients and aim to provide preliminary feasibility data on study implementation...
November 1, 2016: Clinical Trials: Journal of the Society for Clinical Trials
https://www.readbyqxmd.com/read/28077535/the-impact-of-a-perceptual-and-adaptive-learning-module-on-transoesophageal-echocardiography-interpretation-by-anaesthesiology-residents
#16
B T Romito, S Krasne, P J Kellman, A Dhillon
BACKGROUND: The role of transoesophageal echocardiography (TOE) in anaesthetic practice is expanding. We evaluated the effect of a TOE perceptual and adaptive learning module (PALM) on first-yr anaesthesiology residents' performance, in diagnosing cardiac pathology by TOE. METHODS: First-yr residents were assigned to a group (n = 12) that used a TOE PALM or a control group that did not (n = 12). Both groups received a TOE pretest that measured their accuracy and response times...
October 2016: British Journal of Anaesthesia
https://www.readbyqxmd.com/read/28077124/important-patient-characteristics-differ-prior-to-total-knee-arthroplasty-and-total-hip-arthroplasty-between-switzerland-and-the-united-states
#17
Patricia D Franklin, Hermes Miozzari, Panayiotis Christofilopoulos, Pierre Hoffmeyer, David C Ayers, Anne Lübbeke
BACKGROUND: Outcomes after total knee (TKA) and hip (THA) arthroplasty are often generalized internationally. Patient-dependent factors and preoperative symptom levels may differ across countries. We compared preoperative patient and clinical characteristics from two large cohorts, one in Switzerland, the other in the US. METHODS: Patient characteristics were collected prospectively on all elective primary TKAs and THAs performed at a large Swiss hospital and in a US national sample...
January 11, 2017: BMC Musculoskeletal Disorders
https://www.readbyqxmd.com/read/28076685/diffusion-of-evidence-based-intensive-care-unit-organizational-practices-a-state-wide-analysis
#18
Rachel Kohn, Vanessa Madden, Jeremy M Kahn, David A Asch, Amber E Barnato, Scott D Halpern, Meeta Prasad Kerlin
RATIONALE: Several intensive care unit (ICU) organizational practices have been associated with improved patient outcomes. However, the uptake of these evidence-based practices is unknown. OBJECTIVE: To assess diffusion of ICU organizational practices across the state of Pennsylvania. METHODS: We conducted two web-based, cross-sectional surveys of ICU organizational practices in Pennsylvania acute care hospitals, in 2005 (chief nursing officer respondents) and 2014 (ICU nurse manager respondents)...
January 11, 2017: Annals of the American Thoracic Society
https://www.readbyqxmd.com/read/28076295/convolutive-blind-source-separation-of-surface-emg-measurements-of-the-respiratory-muscles
#19
Eike Petersen, Herbert Buchner, Marcus Eger, Philipp Rostalski
Electromyography (EMG) has long been used for the assessment of muscle function and activity and has recently been applied to the control of medical ventilation. For this application, the EMG signal is usually recorded invasively by means of electrodes on a nasogastric tube which is placed inside the esophagus in order to minimize noise and crosstalk from other muscles. Replacing these invasive measurements with an EMG signal obtained non-invasively on the body surface is difficult and requires techniques for signal separation in order to reconstruct the contributions of the individual respiratory muscles...
January 11, 2017: Biomedizinische Technik. Biomedical Engineering
https://www.readbyqxmd.com/read/28074279/identification-and-clinical-course-of-166-pediatric-cardiac-tumors
#20
Lin Shi, Lanping Wu, Huijuan Fang, Bo Han, Jialun Yang, Xiaojin Ma, Fang Liu, Yongwei Zhang, Tingting Xiao, Min Huang, Meirong Huang
: The aim of this study was to investigate the pathological classifications, clinical features, and natural history of pediatric cardiac tumors to provide a basis for the selection of an appropriate therapeutic method. The medical records of in- or outpatients with cardiac tumors at four hospitals were classified to analyze various types of tumor growth locations, clinical manifestations, surgical indications, and long-term follow-up results. There were 166 patients, including 158 with primary cardiac tumors, six with metastatic cardiac tumors, and two with unclassified cardiac tumors...
January 10, 2017: European Journal of Pediatrics
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