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https://www.readbyqxmd.com/read/28544142/discordant-phenotypes-in-monozygotic-twins-with-16p11-2-microdeletions-including-the-sh2b1-gene
#1
Lin Li, Linhuan Huang, Shaobin Lin, Yanmin Luo, Qun Fang
A 200∼240 kb SH2B1-containing deletion region on 16p11.2 is associated with early-onset obesity and developmental delay. Here, we describe monozygotic twin brothers with discordant clinical presentations. Intrauterine fetal growth restriction was present in both twins. Additionally, twin A exhibited coarctation of aorta, left ventricular noncompaction, atrial septal defect, pericardial effusion, left hydronephrosis, and moderate developmental delay, whereas twin B exhibited single umbilical artery. Chromosome microarray analysis was performed on both twins and their parents...
May 24, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28541140/chest-ultrasound-findings-in-pulmonary-tuberculosis
#2
Paolo Agostinis, Roberto Copetti, Laura Lapini, Geraldo Badona Monteiro, Augusto N'Deque, Aldo Baritussio
In resource-limited countries, the diagnosis of pulmonary tuberculosis (TB) is based on clinical findings, chest radiography and the demonstration of acid-fast bacilli in sputum. Few data are available on the use of ultrasound (US) to diagnose pulmonary TB. Chest US was performed in patients with lung TB from a rural African setting, to look for signs of the disease and to clarify the role US may have in the diagnosis of pulmonary TB. Sixty adult patients diagnosed with lung TB underwent chest US. All patients had abnormal findings...
January 1, 2017: Tropical Doctor
https://www.readbyqxmd.com/read/28538388/myxedema-coma-a-case-report-of-pediatric-emergency-care
#3
Yueniu Zhu, Wenjuan Qiu, Mengyan Deng, Xiaodong Zhu
RAIONALE: Myxedema coma (MC) is extremely rare but lethal in pediatric patients with hypothyroidism leading to altered mental status and hypothermia. But there is no clinical guideline for such cases. PATIENT CONCERNS: A 6-year-old Chinese girl presented with coma and hypothermia preceded by pneumonia. Her lab results were: free thyroxin (T4) 4.18 pmol/L and thyroid-stimulating hormone (TSH) > 150 μIU/mL with extremely elevated anti-thyroid peroxidase (TPO-Ab) and anti-thyroglobulin...
May 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28532506/clinical-evaluation-of-myocardial-involvement-in-acute-myopericarditis-in-young-adults
#4
Ersin Saricam, Yasemin Saglam, Tuncay Hazirolan
BACKGROUND: Myocardial involvement in young adults has various causes. Acute myopericarditis is one of the myocardial involvements in young adults. It is easy to confuse with acute ST-elevation myocardial infarction because of the electrocardiographic features. This study aims to investigate a number of imaging techniques and clinical features for acute myopericarditis in young adults (<30 years of age). METHODS: This retrospective study included 147 patients selected from the 2147 patients at the age of <30 with acute chest pain admitted into emergency service between 2010 and 2016...
May 22, 2017: BMC Cardiovascular Disorders
https://www.readbyqxmd.com/read/28526593/cardiac-tamponade-as-an-initial-presentation-for-systemic-lupus-erythematosus
#5
William Li, Thomas Frohwein, Kenneth Ong
Systemic lupus erythematosus (SLE) is a chronic autoimmune inflammatory disease which follows a relapsing and remitting course that can manifest in any organ system. While classic manifestations consist of arthralgia, myalgia, frank arthritis, a malar rash and renal failure to name a few, cardiac tamponade, however, is a far less common and far more dangerous presentation. We highlight the case of a 61year-old male with complaints of acute onset shortness of breath and generalized body aches associated with a fever and chills in the ER...
April 29, 2017: American Journal of Emergency Medicine
https://www.readbyqxmd.com/read/28526059/severe-polyserositis-induced-by-the-13-valent-pneumococcal-conjugate-vaccine-a-case-report
#6
Pierre Tawfik, Elie Gertner, Charlene E McEvoy
BACKGROUND: The United States Advisory Committee on Immunization Practices recommends administration of the 13-valent pneumococcal conjugate vaccine in series with the 23-valent pneumococcal polysaccharide vaccine for prevention of pneumonia in the elderly. Reports of autoimmune or auto-inflammatory diseases as a result of pneumococcal vaccination, especially pneumococcal conjugate vaccine, are extremely rare. CASE PRESENTATION: We present a case of severe serositis in a 75-year-old Caucasian woman complicated by pericardial and pleural effusions in the setting of recent 13-valent pneumococcal conjugate vaccine vaccination and no other obvious etiology...
May 20, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/28524841/ex-utero-intrapartum-treatment-for-the-pericardial-effusion-drain-of-a-fetal-cardiac-tumor
#7
Jian Zhuang, Wei Pan, Cheng-Bin Zhou, Feng-Zhen Han
No abstract text is available yet for this article.
June 5, 2017: Chinese Medical Journal
https://www.readbyqxmd.com/read/28523629/a-case-of-diminished-pericardial-effusion-after-treatment-of-a-giant-hepatic-cyst
#8
Hiroshi Okano, Tomomasa Tochio, Hiroaki Kumazawa, Yoshiaki Isono, Hiroki Tanaka, Shimpei Matsusaki, Tomohiro Sase, Tomonori Saito, Katsumi Mukai, Akira Nishimura, Tetsuya Kitamura, Takuya Mori
A 75-year-old woman was discovered to have a pericardial effusion when she was admitted to our hospital because of a giant hepatic cyst. We could not detect the cause of the effusion and diagnosed idiopathic pericardial effusion. The patient underwent transcutaneous drainage of the hepatic cyst and an injection of antibiotics. There was no communication between the pericardial effusion and the hepatic cyst. Although the hepatic cyst was reduced in size, the pericardial effusion showed no remarkable change immediately after treatment; however, 5 months later, the pericardial effusion was found to be diminished...
May 18, 2017: Clinical Journal of Gastroenterology
https://www.readbyqxmd.com/read/28522919/protein-losing-pseudomembranous-colitis-with-cap-polyposis-like-features
#9
Wolfgang Kreisel, Guenther Ruf, Richard Salm, Adhara Lazaro, Bertram Bengsch, Anna-Maria Globig, Paul Fisch, Silke Lassmann, Annette Schmitt-Graeff
Protein-losing enteropathy (PLE) is characterized by loss of serum proteins into the gastrointestinal tract. It may lead to hypoproteinemia and clinically present as protein deficiency edema, ascites, pleural or pericardial effusion and/or malnutrition. In most cases the site of protein loss is the small intestine. Here we present an unusual case of severe PLE in a 55-year old female with a one-year history of recurrent diarrhea, crampy abdominal pain, and peripheral edema. Endoscopy and MRI showed a diffuse inflammatory thickening of the sigmoid colon and the rectum...
April 28, 2017: World Journal of Gastroenterology: WJG
https://www.readbyqxmd.com/read/28515859/conservative-management-of-aortic-root-rupture-complicated-with-cardiac-tamponade-following-transcatheter-aortic-valve-implantation
#10
Luca Vannini, Rut Andrea, Manel Sabaté
Aortic root rupture and cardiac tamponade during transcatheter aortic valve implantation is a frightening complication with high mortality rate. A conservative management of this complication could represent an initial strategy, especially in high-risk patients, to avoid emergent cardiac surgery. This conservative management includes: Immediate detection of pericardial effusion by echocardiography, a fast instauration of pericardial drainage, auto-transfusion and anticoagulation reversal. We describe two cases of patients who suffered this complication and were treated successfully with this initial approach...
April 26, 2017: World Journal of Cardiology
https://www.readbyqxmd.com/read/28511334/-meigs-syndrome-presenting-with-isolated-pericardial-effusion-a-case-report
#11
L Q Kong, Q Nie, B X Yang
No abstract text is available yet for this article.
May 24, 2017: Zhonghua Xin Xue Guan Bing za Zhi
https://www.readbyqxmd.com/read/28509710/ultrasound-guided-pericardiocentesis-a-novel-parasternal-approach
#12
Adi Osman, Tan Wan Chuan, Jamalludin Ab Rahman, Gabriele Via, Guido Tavazzi
OBJECTIVE: The aim of this study was to evaluate a novel pericardiocentesis technique using an in-plane parasternal medial-to-lateral approach with the use of a high-frequency probe in patients with cardiac tamponade. BACKGROUND: Echocardiography is pivotal in the diagnosis of pericardial effusion and tamponade physiology. Ultrasound guidance for pericardiocentesis is currently considered the standard of care. Several approaches have been described recently, which differ mainly on the site of puncture (subxiphoid, apical, or parasternal)...
May 15, 2017: European Journal of Emergency Medicine: Official Journal of the European Society for Emergency Medicine
https://www.readbyqxmd.com/read/28506710/outcomes-after-repeat-ablation-of-ventricular-tachycardia-in-structural-heart-disease-an-analysis-from-the-international-vt-ablation-center-collaborative-group
#13
Wendy S Tzou, Roderick Tung, David S Frankel, Luigi Di Biase, Pasquale Santangeli, Marmar Vaseghi, T Jared Bunch, J Peter Weiss, Venkatakrishna N Tholakanahalli, Dhanunjaya Lakkireddy, Rama Vunnam, Timm Dickfeld, Nilesh Mathuria, Usha Tedrow, Pasquale Vergara, Kairav Vakil, Shiro Nakahara, J David Burkhardt, William G Stevenson, David J Callans, Paolo Della Bella, Andrea Natale, Kalyanam Shivkumar, Francis E Marchlinski, William H Sauer
BACKGROUND: Data evaluating repeat radiofrequency ablation (>1RFA) of ventricular tachycardia (VT) are limited. OBJECTIVE: The purpose of this study was to determine the safety and outcomes of VT >1RFA in patients with structural heart disease. METHODS: Patients with structural heart disease undergoing VT RFA at 12 centers with data on prior RFA history were included. Characteristics and outcomes were compared between first-time (1RFA) and >1RFA patients...
April 15, 2017: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://www.readbyqxmd.com/read/28503752/point-of-care-diagnosis-of-cardiac-tamponade-identified-by-the-flow-velocity-paradoxus
#14
William Shyy, Roneesha S Knight, Aaron Kornblith, Nathan A Teismann
The presentation of cardiac tamponade is a spectrum from occult to extreme. The clinical history, physical exam, electrocardiogram, and radiographic findings of tamponade have poor sensitivities and even worse specificities. We use a clinical scenario to demonstrate how point-of-care cardiac ultrasound can diagnose impending cardiac tamponade in a clinically stable patient. The ultrasound finding we recommend is the flow velocity paradoxus, in which respiratory variation causes significant changes in transvalvular inflow velocities, which are exaggerated when tamponade is present...
May 15, 2017: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/28502871/a-leadless-pacemaker-in-the-real-world-setting-the-micra-transcatheter-pacing-system-post-approval-registry
#15
Paul R Roberts, Nicolas Clementy, Faisal Al Samadi, Christophe Garweg, Jose Luis Martinez-Sande, Saverio Iacopino, Jens Brock Johansen, Xavier Vinolas Prat, Robert Kowal, Didier Klug, Lluis Mont, Jan Steffel, Shelby Li, Dirk Van Osch, Mikhael F El-Chami
BACKGROUND: First-in-man studies of leadless pacemakers have demonstrated high implant success rates, and safety and efficacy objectives were achieved. Outside of the investigational setting, there are particular concerns over cardiac effusion/perforation, device dislodgement, infection, telemetry, and battery issues. OBJECTIVE: The acute performance of the Micra transcatheter pacemaker from a worldwide post-approval registry is reported. METHODS: The registry is an ongoing prospective single-arm observational study designed to assess the safety and effectiveness of Micra in the post-approval setting...
May 11, 2017: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://www.readbyqxmd.com/read/28497416/internal-medicine-point-of-care-ultrasound-curriculum-consensus-recommendations-from-the-canadian-internal-medicine-ultrasound-cimus-group
#16
Irene W Y Ma, Shane Arishenkoff, Jeffrey Wiseman, Janeve Desy, Jonathan Ailon, Leslie Martin, Mirek Otremba, Samantha Halman, Patrick Willemot, Marcus Blouw
Bedside point-of-care ultrasound (POCUS) is increasingly used to assess medical patients. At present, no consensus exists for what POCUS curriculum is appropriate for internal medicine residency training programs. This document details the consensus-based recommendations by the Canadian Internal Medicine Ultrasound (CIMUS) group, comprising 39 members, representing 14 institutions across Canada. Guiding principles for selecting curricular content were determined a priori. Consensus was defined as agreement by at least 80% of the members on POCUS applications deemed appropriate for teaching and assessment of trainees in the core (internal medicine postgraduate years [PGY] 1-3) and expanded (general internal medicine PGY 4-5) training programs...
May 11, 2017: Journal of General Internal Medicine
https://www.readbyqxmd.com/read/28496931/safety-of-the-direct-oral-anticoagulant-edoxaban-for-atrial-fibrillation-after-cardiac-surgery-pilot-study
#17
Akira Sezai, Shunji Osaka, Hiroko Yaoita, Munehito Arimoto, Hiroaki Hata, Motomi Shiono
Direct oral anticoagulants have recently been recommended for non-valvular atrial fibrillation, but have rarely been studied in the field of cardiac surgery. We prospectively investigated the safety of edoxaban, a novel oral anticoagulant, for use in cardiac surgery patients with postoperative atrial fibrillation (POAF), which is the most common complication of cardiac surgery and can lead to stroke. The subjects were adult cardiac surgery patients with POAF who received oral edoxaban for 2 months in an open-label pilot study...
October 2016: Journal of Atrial Fibrillation
https://www.readbyqxmd.com/read/28496925/cryoballoon-versus-radiofrequency-ablation-for-atrial-fibrillation-a-meta-analysis-of-16-clinical-trials
#18
Jalaj Garg, Rahul Chaudhary, Chandrasekar Palaniswamy, Neeraj Shah, Parasuram Krishnamoorthy, Babak Bozorgnia, Andrea Natale
Introduction: We aimed to study the procedural characteristics, efficacy and safety of cryoballoon ablation (CBA) versus radiofrequency ablation (RFA) for catheter ablation of paroxysmal atrial fibrillation (AF). Methods: A systematic literature search was performed using PubMed, EMBASE, Web of Science, and Cochrane Central Register of Controlled Trials to clinical trials comparing CBA and RFA for AF. Outcomes were evaluated for efficacy, procedure characteristics and safety. For each study, odd ratio (OR) and 95% confidence intervals (CIs) were calculated for endpoints for both approaches...
October 2016: Journal of Atrial Fibrillation
https://www.readbyqxmd.com/read/28496513/dog-footprint-in-the-heart
#19
Hassan Aghajani, Shahrooz Yazdani, Seyed Khalil Forouzan Nia, Hamed Vahidi, Faezeh Aghajani
Cardiac manifestations of the hydatid cyst are relatively uncommon. Cardiac involvement may lead to the compression of vital organs, pulmonary hypertension, pericardial effusion, and even anaphylaxis. A 45-year-old woman presented to the Emergency Department of Tehran Heart Center with chest pain. Cardiac examination revealed relatively muffled heart sounds. Echocardiography demonstrated a round echolucent well-defined mass (47 × 25 mm) on the base and the mid lateral wall of the left ventricle (LV) without septation...
October 3, 2016: Journal of Tehran Heart Center
https://www.readbyqxmd.com/read/28496510/constrictive-pericarditis-and-primary-amenorrhea-with-syndactyly-in-an-iranian-female-mulibrey-nanism-syndrome
#20
Tahereh Davarpasand, Maryam Sotoudeh Anvari, Mohammad Naderan, Mohammad Ali Boroumand, Hossein Ahmadi
Mulibrey nanism is a rare autosomal recessive syndrome caused by a mutation in the TRIM37 gene with severe growth retardation and multiple organ involvement. Early diagnosis is important because 50% of the patients develop congestive heart failure owing to constrictive pericarditis, and this condition plays a critical role in the final prognosis. A 37-year-old female patient presented with symptoms of dyspnea on exertion and shortness of breath. She had severe growth failure and craniofacial dysmorphic feature...
October 3, 2016: Journal of Tehran Heart Center
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