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https://www.readbyqxmd.com/read/28545855/-a-complex-case-of-diabetes-due-to-lmna-mutation
#1
C Ambonville, M-A Bouldouyre, P Laforêt, P Richard, O Benveniste, C Vigouroux
INTRODUCTION: Laminopathies (diseases related to A/C mutations of lamines) are rare genetic diseases with an extensive phenotypic spectrum, including lipodystrophic syndromes-characterized by a selective loss of adipose tissue-of which the partial Dunnigan family type is the most frequent. CASE REPORT: We report on a 55-year-old woman with diabetes and long-term disabling myalgia. Her cushingoid morphotype, associated with cutaneous lipo-atrophy and muscle hypertrophy in addition to a genetic heritage, led us to the diagnosis of complex partial familial lipodystrophy heterozygous LMNA_c...
May 22, 2017: La Revue de Médecine Interne
https://www.readbyqxmd.com/read/28545633/seattle-heart-failure-and-proportional-risk%C3%A2-models-predict-benefit-from-implantable%C3%A2-cardioverter-defibrillators
#2
Kenneth C Bilchick, Yongfei Wang, Alan Cheng, Jeptha P Curtis, Kumar Dharmarajan, George J Stukenborg, Ramin Shadman, Inder Anand, Lars H Lund, Ulf Dahlström, Ulrik Sartipy, Aldo Maggioni, Karl Swedberg, Chris O'Conner, Wayne C Levy
BACKGROUND: Recent clinical trials highlight the need for better models to identify patients at higher risk of sudden death. OBJECTIVES: The authors hypothesized that the Seattle Heart Failure Model (SHFM) for overall survival and the Seattle Proportional Risk Model (SPRM) for proportional risk of sudden death, including death from ventricular arrhythmias, would predict the survival benefit with an implantable cardioverter-defibrillator (ICD). METHODS: Patients with primary prevention ICDs from the National Cardiovascular Data Registry (NCDR) were compared with control patients with heart failure (HF) without ICDs with respect to 5-year survival using multivariable Cox proportional hazards regression...
May 30, 2017: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/28542808/ascending-aortic-rupture-through-a-penetrating-atherosclerotic-ulcer-a-rare-cause-of-sudden-unexpected-death
#3
Supawon Srettabunjong
Spontaneous rupture of the aorta through an atherosclerotic lesion without preexisting aortic aneurysm, dissection, or history of trauma is very rare. Without prompt aortic repair, all cases result in sudden death with a definitive diagnosis made only intraoperatively or during autopsy. The phenomenon has been uniformly found in individuals with hypertension. The author reports a sudden unexpected death caused by spontaneous rupture of the ascending aorta in a 57-year-old man with a history of hypertension...
May 23, 2017: Journal of Forensic Sciences
https://www.readbyqxmd.com/read/28538416/case-report-of-2-sudden-deaths-after-surgery-for-bone-fracture-usefulness-of-immunohistochemical-analysis-of-coronary-artery-for-identifying-acute-myocardial-infarction
#4
Atsushi Kurata, Jun Nishida, Takashi Koyama, Tamotsu Miki, Hirotsugu Hashimoto, Kengo Yamamoto, Masahiko Kuroda
RATIONALE: Death following orthopedic surgery has become rare, but does occur. Acute myocardial infarction (AMI) can be a cause of such death, but diagnosis of AMI is often challenging, even by autopsy. PATIENT CONCERNS: We have recently experienced 2 cases of sudden death after bone fracture surgery, in which AMI and pulmonary thromboembolism were clinically suspected as causes of death. Case 1 was a 60-year-old male with a history of diabetes mellitus who died 7 days after surgery for Lisfranc dislocation fracture...
May 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28536668/brugada-syndrome-in-a-patient-with-vascular-ehlers-danlos-syndrome-sudden-death-risk-amplified
#5
Jason D'Souza, Divyanshu Malhotra, Aditya Goud, Chanukya Dahagam, George Everett
The vast majority of sudden cardiac arrests occur in patients with structural heart disease and in approximately 10% of the cases, it can occur in those with structurally normal hearts. Brugada syndrome is an autosomal dominant sodium channelopathy that has been implicated in sudden deaths. Given their low prevalence, our knowledge about Brugada syndrome is still evolving. Apart from schizophrenia, there have been no reports of associated medical conditions. We recently encountered a patient with vascular Ehlers-Danlos syndrome who was also found to have Brugada syndrome...
April 19, 2017: Curēus
https://www.readbyqxmd.com/read/28532918/subarachnoid-haemorrhage-in-germany-between-2010-2013-estimated-incidence-rates-based-on-a-nationwide-hospital-discharge-registry
#6
Jasper H van Lieshout, Igor Fischer, Marcel A Kamp, A R T Donders, Jan F Cornelius, Hans-Jakob Steiger, Hieronymus D Boogaarts, Athanasios K Petridis
BACKGROUND: Nordic countries are the primary source for nationwide data on the incidence of subarachnoid haemorrhage (SAH). Reliable estimates of national incidence rates of SAH in other countries are lacking, yet studies from Nordic countries with exceptional incidence rate are sometimes disregarded because of concerns regarding external validity. Autopsies are rarely performed for sudden deaths, therefore estimates of the SAH incidence commonly reflect the hospital discharge rates. Our aim was to estimate the nationwide incidence of non-traumatic SAH in Germany using a national hospital discharge register...
May 19, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28532588/how-to-prevent-scd-in-the-young
#7
Bo Gregers Winkel, Reza Jabbari, Jacob Tfelt-Hansen
Sudden cardiac death in the young (SCDY) is always a devastating event. The death is sudden and unexpected and often in a person who was thought to be healthy. In recent years our understanding of these tragic events have drastically improved; 10-20years ago we did not know how often SCD occurred in the young, and we had sparse knowledge on the role of inheritance. We have found that SCD corresponds to 7% of all deaths with an overall (highest possible) incidence rate of 2.8 per 100,000 person-years (autopsy rate of sudden death cases of 75%)...
June 15, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28525397/an-unusual-case-of-sudden-death-is-there-a-relationship-between-thyroid-disorders-and-fatal-pulmonary-thromboembolism-a-case-report-and-review-of-literature
#8
Isabella Aquila, Silvia Boca, Fiorella Caputo, Matteo A Sacco, Santo Gratteri, Vittorio Fineschi, Pietrantonio Ricci
In adults, the most common cause of sudden death is coronary heart disease or defects in the cardiac conduction system; however, there are many cases of sudden death occurring from other causes such as fatal pulmonary thromboembolism. Several risk factors are recognized, including hospitalization, surgery, obesity, pregnancy, the use of oral contraceptives, traumatic fractures, and genetic conditions, which cause hypercoagulable states such as factor V Leiden mutations. Although many risk factors have been identified, the mortality rate is still high...
May 19, 2017: American Journal of Forensic Medicine and Pathology
https://www.readbyqxmd.com/read/28523857/arrhythmia-burden-and-related-outcomes-in-eisenmenger-syndrome
#9
Shankar Baskar, Philippa Horne, Samantha Fitzsimmons, Philip R Khoury, Joseph Vettukattill, Koichiro Niwa, Teiji Agaki, Mark Spence, Hisanori Sakazaki, Gruschen Veldtman
BACKGROUND: Patients with Eisenmenger syndrome have a shorter lifespan than the general population. A significant proportion develop arrhythmia and some, sudden death. OBJECTIVE: The aims of this study were to characterize the frequency, type and effects of arrhythmias in adult patients with Eisenmenger's syndrome and to identify risk factors for arrhythmias. METHODS: This retrospective study included patients aged ≥ 18 years of age with Eisenmenger's syndrome from three institutions...
May 19, 2017: Congenital Heart Disease
https://www.readbyqxmd.com/read/28522110/high-dose-gemcitabine-busulfan-and-melphalan-for-autologous-stem-cell-transplant-in-patients-with-relapsed-or-refractory-myeloma-a-phase-2-trial-and-matched-pair-comparison-with-melphalan
#10
Yago Nieto, Benigno C Valdez, Sai R Pingali, Roland Bassett, Ruby Delgado, John Nguyen, Nina Shah, Uday Popat, Roy B Jones, Borje S Andersson, Alison Gulbis, Sairah Ahmed, Qaiser Bashir, Simrit Parmar, Krina Patel, Alan Myers, Gabriela Rondon, Robert Z Orlowski, Richard Champlin, Muzaffar Qazilbash
BACKGROUND: High-dose melphalan is of little benefit as a regimen for patients with relapsed or refractory myeloma undergoing an autologous stem-cell transplant (ASCT). The poor performance of single-agent melphalan in this setting prompted us to study a new high-dose combination of infused gemcitabine, busulfan, and melphalan. METHODS: We did a phase 2 trial at the University of Texas MD Anderson Cancer Center (Houston, TX, USA). We enrolled patients with primary refractory or relapsed myeloma who had received treatment with bortezomib, an immunomodulatory drug, or both, or who were receiving a salvage ASCT...
May 15, 2017: Lancet Haematology
https://www.readbyqxmd.com/read/28520537/anomalous-origin-of-right-coronary-artery-from-left-coronary-sinus-13-cases-treated-with-the-reimplantation-technique
#11
Alain Cubero, Alejandro Crespo, Gadah Hamzeh, Andrés Cortes, Daniel Rivas, José Ignacio Aramendi
OBJECTIVES: Anomalous aortic origin of a coronary artery is uncommon but potentially clinically significant. Manifestations vary from asymptomatic patients to those who present with angina pectoris, myocardial infarction, heart failure, syncope, arrhythmias, and sudden death. We describe our experience with surgical reimplantation and results at midterm follow-up. METHODS: Between February 2003 and July 2016, a total of 13 patients with anomalous origin of the right coronary artery (RCA) from the left sinus underwent surgical reimplantation...
May 2017: World Journal for Pediatric & Congenital Heart Surgery
https://www.readbyqxmd.com/read/28520322/-psychological-impact-of-out-of-hospital-cardiopulmonary-resuscitation-cpr-on-the-witness-engaged-in-gestures-of-survival
#12
REVIEW
C Stassart, S Stipulante, R Zandona, A Gillet, A Ghuysen
The occurrence of an unexpected sudden death puts the witnesses of this event in a situation of high emotional impact. The benefit to allow the families of victims to dispense the first resuscitation techniques has been emphasized. However, little data exist on the emotional impact of a cardio-respiratory arrest outside the hospital on the witness, who is often a close family member. Recently, we investigated the presence of psychological distress and the factors influencing it, in the active practice of basic resuscitation gestures by the witnesses guided by the operator 112...
May 2017: Revue Médicale de Liège
https://www.readbyqxmd.com/read/28515827/transient-left-bundle-branch-block-due-to-severe-hyperkalemia
#13
Kishore Kumar, Madhavi Biyyam, Amandeep Singh, Bharat Bajantri, Hassan Tariq, Suresh Kumar Nayudu, Sridhar Chilimuri
Hyperkalemia is a potentially life-threatening electrolyte imbalance that can lead to sudden death from cardiac arrhythmias and asystole. We present a case of transient left bundle branch block pattern on an electrocardiogram (ECG) secondary to hyperkalemia in a patient with history of end-stage renal disease. A 52-year-old man presented to the emergency room (ER) with chief complaints of weakness and lethargy after missing his regularly scheduled session of hemodialysis. A 12-lead ECG in the ER showed sinus tachycardia at 118 beats/min, wide QRS complexes, peaked T waves and left bundle branch block-like pattern...
April 2017: Cardiology Research
https://www.readbyqxmd.com/read/28507907/effectiveness-of-enzyme-replacement-therapy-in-fabry-disease-long-term-experience-in-argentina
#14
Gustavo Cabrera, Juan Politei, Norberto Antongiovani, Hernán Amartino
Evidence regarding long term effectiveness of enzyme replacement therapy (ERT) in Fabry disease (FD) is needed. The aim of this study was to analyze in a cohort of FD patients in Argentina, the long term effectiveness of ERT on renal, cardiac and cerebrovascular parameters. METHODS: Patients with genetically proven FD were included from GADYTEF (Argentinean group for the treatment of FD) between 2001 and 2014. Renal, cardiac, and cerebral outcomes were prospectively studied in patients treated with ERT...
June 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28506581/-sudden-death-in-versailles-a-review-of-a-cardiovascular-treatrise-by-dionis-1710
#15
P Charlier
In 1710, the surgeon Pierre Dionis publishes a Dissertation on sudden death. Echoing and expanding the work of his Roman colleague Jean Marie Lancisi, he describes and analyzes dozens of cases of sudden death observed by him. A large number of cases was followed by autopsies allowing clinicopathological confrontation. Are proposed causes of death (pulmonary embolism, myocardial infarction, hemorrhagic stroke, arterial rupture, etc.), pathophysiological mechanisms based on the ancient theory of humors, and preventive actions to avoid these unexpected deaths...
May 12, 2017: Annales de Cardiologie et D'angéiologie
https://www.readbyqxmd.com/read/28504342/sudden-death-in-a-pediatric-heart-transplant-recipient-with-peripheral-eosinophilia-and-eosinophilic-myocardial-infiltrates
#16
William McEachern, Justin Godown, Debra A Dodd, Anne I Dipchand, Jennifer L Conway, Gregory J Wilson, Robert D Hoffman
Eosinophilia has been rarely reported in pediatric heart transplant recipients and has been suggested to play a role in graft rejection. We report a case of a young female patient with peripheral blood eosinophilia who died suddenly 2 years following ABO-incompatible heart transplantation. She was found at autopsy to have myocardial infiltration of not only T-lymphocytes and macrophages expected in acute cellular rejection but also of eosinophils, B-lymphocytes, and plasma cells indicating myocarditis.
May 14, 2017: Pediatric Transplantation
https://www.readbyqxmd.com/read/28501412/sudden-death-in-a-diver-a-diagnostic-conundrum
#17
Scott Dougherty, Maziar Khorsandi, Myra Adelbai, Vipin Zamvar, James Francis
We discuss the case of an experienced diver who ran out of air during his final ascent while scuba diving. He lost consciousness rapidly after surfacing and despite immediate cardiopulmonary resuscitation, could not be revived. On arrival at the emergency department he was noted to have copious amounts of blood in his upper airway and had developed extensive subcutaneous emphysema. Large amounts of air were observed in the central circulation following a postmortem computerized tomography scan as well as pneumomediastinum, a small right-sided hemothorax, and extensive subcutaneous emphysema...
May 10, 2017: Wilderness & Environmental Medicine
https://www.readbyqxmd.com/read/28498219/premarathon-evaluations-is-there-a-role-for-runner-prerace-medical-screening-and-education-to-reduce-the-risk-of-medical-complications
#18
Martin Peter Schwellnus
There is irrefutable evidence that regular participation in physical activity has substantial health benefits, and as such participation in mass community-based sports events should be supported. However, with the promotion of physical activity comes the potential risk of medical complications during an acute exercise session, with this risk varying according to the risk factor profile of an individual and the nature of the event. The demographics of marathon race entrants changed over the past two to three decades, and currently about 50% of runners are older than 40 yr...
May 2017: Current Sports Medicine Reports
https://www.readbyqxmd.com/read/28496079/-surgical-treatment-for-anomalous-aortic-origin-of-coronary-arteries
#19
Ryo Hirayama, Ryusuke Suzuki, Toshiaki Watanabe, Mai Matsukawa, Takeshi Sakaguchi, Kenta Uekihara, Yuki Yoshioka, Masaharu Mouri, Tomoya Miyamoto, Masamichi Nakajima
Anomalous aortic origin of coronary arteries is rare. We report 3 cases of surgical treatment for anomalous aortic origin of coronary arteries. Case 1 was a 38-year-old man who was saved by the use of an automated external defibrillator from cardiopulmonary arrest while exercising. The coronary angiogram showed the right coronary artery arising from the left coronary sinus of Valsalva and being located between the aorta and the pulmonary trunk. He underwent coronary artery bypass grafting (CABG) using the right internal thoracic artery with ligation of proximal part of right coronary artery to prevent sudden death...
May 2017: Kyobu Geka. the Japanese Journal of Thoracic Surgery
https://www.readbyqxmd.com/read/28495863/soluble-urokinase-plasminogen-activator-receptor-and-outcomes-in-patients-with-diabetes-on-hemodialysis
#20
Christiane Drechsler, Salim S Hayek, Changli Wei, Sanja Sever, Bernd Genser, Vera Krane, Andreas Meinitzer, Winfried März, Christoph Wanner, Jochen Reiser
BACKGROUND AND OBJECTIVES: Soluble urokinase plasminogen activator receptor is a novel biomarker strongly predictive of cardiovascular outcomes implicated in the pathogenesis of kidney disease. Soluble urokinase plasminogen activator receptor levels, however, correlate with declining kidney function. It is unclear whether soluble urokinase plasminogen activator receptor levels remain associated with outcomes in patients with ESRD. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: We measured plasma soluble urokinase plasminogen activator receptor levels in 1175 patients (mean age =66±8 years old, 54% men) with type 2 diabetes mellitus on hemodialysis participating in the German Diabetes and Dialysis Study followed for a median of 4 years for outcomes including all-cause death, cardiovascular events, and infection-related mortality...
May 11, 2017: Clinical Journal of the American Society of Nephrology: CJASN
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