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https://www.readbyqxmd.com/read/28912185/restrictive-cardiomyopathy-genetics-pathogenesis-clinical-manifestations-diagnosis-and-therapy
#1
REVIEW
Eli Muchtar, Lori A Blauwet, Morie A Gertz
Restrictive cardiomyopathy (RCM) is characterized by nondilated left or right ventricle with diastolic dysfunction. The restrictive cardiomyopathies are a heterogenous group of myocardial diseases that vary according to pathogenesis, clinical presentation, diagnostic evaluation and criteria, treatment, and prognosis. In this review, an overview of RCMs will be presented followed by a detailed discussion on 3 major causes of RCM, for which tailored interventions are available: cardiac amyloidosis, cardiac sarcoidosis, and cardiac hemochromatosis...
September 15, 2017: Circulation Research
https://www.readbyqxmd.com/read/28912179/classification-epidemiology-and-global-burden-of-cardiomyopathies
#2
REVIEW
William J McKenna, Barry J Maron, Gaetano Thiene
In the past 25 years, major advances were achieved in the nosography of cardiomyopathies, influencing the definition and taxonomy of this important chapter of cardiovascular disease. Nearly, 50% of patients dying suddenly in childhood or adolescence or undergoing cardiac transplantation are affected by cardiomyopathies. Novel cardiomyopathies have been discovered (arrhythmogenic, restrictive, and noncompacted) and added to update the World Health Organization classification. Myocarditis has also been named inflammatory cardiomyopathy...
September 15, 2017: Circulation Research
https://www.readbyqxmd.com/read/28906150/safety-and-efficacy-of-a-ttr-specific-antisense-oligonucleotide-in-patients-with-transthyretin-amyloid-cardiomyopathy
#3
Merrill D Benson, Noel R Dasgupta, Stacy M Rissing, Jessica Smith, Harvey Feigenbaum
OBJECTIVES: Cardiomyopathy is a major cause of death in both the hereditary form of transthyretin (TTR) amyloidosis and the sporadic late-age-onset transthyretin amyloidosis (ATTR wild-type (ATTRwt)). Clinically disease progression from time of diagnosis to death is usually quoted as 5- to 15-years. In prior studies, significant progression of cardiac parameters in patients with moderate to severe cardiomyopathy has been noted within a 12-month time span. METHODS: The present study was designed to prospectively monitor changes in cardiac parameters, both structural and functional, in patients with ATTR cardiomyopathy while treated with a TTR specific antisense oligonucleotide (ASO; IONIS-TTR℞) designed to lower blood levels of the amyloid fibril precursor protein...
September 14, 2017: Amyloid: the International Journal of Experimental and Clinical Investigation
https://www.readbyqxmd.com/read/28906148/hip-and-knee-arthroplasty-are-common-among-patients-with-transthyretin-cardiac-amyloidosis-occurring-years-before-cardiac-amyloid-diagnosis-can-we-identify-affected-patients-earlier
#4
Jonah Rubin, Julissa Alvarez, Sergio Teruya, Adam Castano, Ronald A Lehman, Mark Weidenbaum, Jeffrey A Geller, Stephen Helmke, Mathew S Maurer
Transthyretin cardiac amyloidosis (ATTR-CA) causes a restrictive cardiomyopathy in older adults, often diagnosed at advanced stages when emerging therapies in late phase clinical trials may not have clinical benefit. This investigation aimed to detect clinical entities that may provide more advanced warning of ATTR-CA. Since ATTR preferentially deposits in ligaments, tendons, and articular cartilage, we hypothesized that ATTR-CA patients have a greater prevalence of total hip (THA) and knee (TKA) arthroplasties compared with the general population, and that arthroplasty occurs significantly before ATTR-CA diagnosis...
September 14, 2017: Amyloid: the International Journal of Experimental and Clinical Investigation
https://www.readbyqxmd.com/read/28905470/outcomes-of-berlin-heart-excor-%C3%A2-pediatric-ventricular-assist-device-support-in-patients-with-restrictive-and-hypertrophic-cardiomyopathy
#5
Jennifer A Su, Jondavid Menteer
The outcomes of pediatric ventricular assist device support in patients with diastolic heart failure have not been well described. This study reviews the North American experience with Berlin Heart EXCOR(®) ventricular assist device implants in children with such physiology. The Berlin Heart clinical database was reviewed. Patients with primary diastolic dysfunction are included in this study. Twenty pediatric patients with restrictive cardiomyopathy (n = 13), hypertrophic cardiomyopathy (n = 3), or congenital heart disease with restrictive physiology (n = 4) who were supported with EXCOR(®) were identified...
September 14, 2017: Pediatric Transplantation
https://www.readbyqxmd.com/read/28895667/a-review-through-the-looking-glass-new-advances-in-dermoscopy
#6
Brady Bleicher, Amanda Levine, Michelle Schwartz, Orit Markowitz
Dermoscopy is a non-invasive diagnostic technique that facilitates the visualization of surface and subsurface structures of the skin. It has been proven to be an essential tool in the diagnosis of both malignant and benign cutaneous lesions. In this article, we review some of the most recent and noteworthy advances in dermoscopy. In addition, we discuss Reflectance Confocal Microscopy (RCM) and Optical Coherence Topography (OCT), two non-invasive imaging devices that may be used alongside dermoscopy to improve diagnostic accuracy...
September 12, 2017: Giornale Italiano di Dermatologia e Venereologia: Organo Ufficiale, Società Italiana di Dermatologia e Sifilografia
https://www.readbyqxmd.com/read/28890659/loeffler-endocarditis-a-unique-presentation-of-right-sided-heart-failure-due-to-eosinophil-induced-endomyocardial-fibrosis
#7
Amit Alam, Shankar Thampi, Shahryar G Saba, Rita Jermyn
Loeffler endocarditis is a rare restrictive cardiomyopathy caused by abnormal endomyocardial infiltration of eosinophils, with subsequent tissue damage from degranulation, eventually leading to fibrosis. Although an uncommon entity, it is still a disease with significant morbidity and mortality. Often identified only at late stages, treatment options are limited once fibrosis occurs, usually requiring heart failure medications or surgical intervention. We present a unique case of a woman with remote history of hypereosinophilic syndrome, attributed to treatment of rheumatoid arthritis with infliximab, who presented with symptoms of heart failure refractory to medical management and was found to have Loeffler endocarditis...
2017: Clinical Medicine Insights. Case Reports
https://www.readbyqxmd.com/read/28887775/imaging-cardiac-innervation-in-amyloidosis
#8
Riemer H J A Slart, Andor W J M Glaudemans, Bouke P C Hazenberg, Walter Noordzij
Cardiac amyloidosis is a form of restrictive cardiomyopathy resulting in heart failure and potential risk on arrhythmia, due to amyloid infiltration of the nerve conduction system and the myocardial tissue. The prognosis in this progressive disease is poor, probably due the development of cardiac arrhythmias. Early detection of cardiac sympathetic innervation disturbances has become of major clinical interest, because its occurrence and severity limits the choice of treatment. The use of iodine-123 labelled metaiodobenzylguanidine ([I-123]MIBG), a chemical modified analogue of norepinephrine, is well established in patients with heart failure and plays an important role in evaluation of sympathetic innervation in cardiac amyloidosis...
September 8, 2017: Journal of Nuclear Cardiology: Official Publication of the American Society of Nuclear Cardiology
https://www.readbyqxmd.com/read/28886802/using-reflectance-confocal-microscopy-in-skin-cancer-diagnosis
#9
REVIEW
Attiya Haroon, Shahram Shafi, Babar K Rao
Biopsy and histologic evaluation have been the gold standard to diagnose skin tumors. Reflectance confocal microcopy (RCM) is a noninvasive, innovative diagnostic technique that enables visualization of different skin layers at an almost histologic resolution. RCM has been proven beneficial in management of various cutaneous lesions. This article highlights the clinical significance and future of RCM to diagnose common skin cancers. However, RCM cannot replace currently standard histopathologic diagnosis. More studies are required to better compare the sensitivity and specificity of skin cancer diagnosis using RCM...
October 2017: Dermatologic Clinics
https://www.readbyqxmd.com/read/28885342/clinical-features-of-idiopathic-restrictive-cardiomyopathy-a-retrospective-multicenter-cohort-study-over-2-decades
#10
Jung Ae Hong, Min-Seok Kim, Min-Su Cho, Hyo In Choi, Duk-Hyun Kang, Sang-Eun Lee, Ga-Yeon Lee, Eun-Seok Jeon, Jae-Yeong Cho, Kye-Hun Kim, Byung-Su Yoo, Jong-Young Lee, Won-Jang Kim, Kyung-Hee Kim, Wook-Jin Chung, Ju-Hee Lee, Myeong-Chan Cho, Jae-Joong Kim
Idiopathic restrictive cardiomyopathy (RCMP) has not been fully understood because this disease is difficult to diagnose. The present study aimed to assess the clinical profile and outcome of idiopathic RCMP from a multicenter cohort.This investigation is a retrospective study of consecutive patients with idiopathic RCMP at 10 centers in Korea between 1990 and 2010. We evaluated the clinical characteristics of the patients and prognostic factors associated with mortality using multivariate Cox proportional hazards regression analyses...
September 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28883434/automated-video-mosaicking-approach-for-confocal-microscopic-imaging-in-vivo-an-approach-to-address-challenges-in-imaging-living-tissue-and-extend-field-of-view
#11
Kivanc Kose, Mengran Gou, Oriol Yélamos, Miguel Cordova, Anthony M Rossi, Kishwer S Nehal, Eileen S Flores, Octavia Camps, Jennifer G Dy, Dana H Brooks, Milind Rajadhyaksha
We describe a computer vision-based mosaicking method for in vivo videos of reflectance confocal microscopy (RCM). RCM is a microscopic imaging technique, which enables the users to rapidly examine tissue in vivo. Providing resolution at cellular-level morphology, RCM imaging combined with mosaicking has shown to be highly sensitive and specific for non-invasively guiding skin cancer diagnosis. However, current RCM mosaicking techniques with existing microscopes have been limited to two-dimensional sequences of individual still images, acquired in a highly controlled manner, and along a specific predefined raster path, covering a limited area...
September 7, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28880031/recent-advances-in-the-synthesis-of-analogues-of-phytohormones-strigolactones-with-ring-closing-metathesis-as-a-key-step
#12
Chiara Lombardi, Emma Artuso, Eleonora Grandi, Marco Lolli, Francesca Spirakys, Emanuele Priola, Cristina Prandi
In this paper, we synthesized and evaluated the biological activity of structural analogues of natural strigolactones in which the butenolide D-ring has been replaced with a γ-lactam. The key step to obtain the α,β-unsaturated-γ-lactam was an RCM on suitably substituted amides. Strigolactones (SLs) are plant hormones with various developmental functions. As soil signaling chemicals, they are required for establishing beneficial mycorrhizal plant/fungus symbiosis. Beside these auxinic roles, recently SLs have been successfully investigated as antitumoral agents...
September 7, 2017: Organic & Biomolecular Chemistry
https://www.readbyqxmd.com/read/28867835/asymmetric-synthesis-of-all-carbon-quaternary-spirocycles-via-a-catalytic-enantioselective-allylic-alkylation-strategy
#13
Samantha E Shockley, J Caleb Hethcox, Brian M Stoltz
Rapid access to enantioenriched spirocycles possessing a 1,4-dicarbonyl moiety spanning an all-carbon quaternary stereogenic spirocenter was achieved using a masked bromomethyl vinyl ketone reagent. The developed protocol entails an enantioselective palladium-catalyzed allylic alkylation reaction followed by a one-pot unmasking/RCM sequence that provides access to the spirocyclic compounds in good yields and selectivities.
August 23, 2017: Tetrahedron Letters
https://www.readbyqxmd.com/read/28865706/quantification-and-visualization-of-coordination-during-non-cyclic-upper-extremity-motion
#14
Richard A Fineman, Leia A Stirling
There are many design challenges in creating at-home tele-monitoring systems that enable quantification and visualization of complex biomechanical behavior. One such challenge is robustly quantifying joint coordination in a way that is intuitive and supports clinical decision-making. This work defines a new measure of coordination called the relative coordination metric (RCM) and its accompanying normalization schemes. RCM enables quantification of coordination during non-constrained discrete motions. Here RCM is applied to a grasping task...
August 20, 2017: Journal of Biomechanics
https://www.readbyqxmd.com/read/28856845/latif-s-point-a-new-point-for-veress-needle-insertion-for-pneumoperitoneum-in-difficult-laparoscopy
#15
Mohamed E Abd Ellatif, Wagih M Ghnnam, Ashraf Abbas, Magdy Basheer, Ibrahim Dawoud, Ramadan Ellaithy
INTRODUCTION: Creating pneumoperitoneum is the most challenging step during laparoscopy. The periumbilical area is the classic site for Veress needle insertion. We adopted a new access point for peritoneal insufflation. METHODS: We introduced a new point for Veress needle insertion to create pneumoperitoneum during difficult laparoscopic procedures. The needle is placed between the xiphoid process and the right costal margin, and it then proceeds toward the patient's right axilla...
August 30, 2017: Asian Journal of Endoscopic Surgery
https://www.readbyqxmd.com/read/28831793/reflectance-confocal-microscopy-guided-laser-ablation-of-basal-cell-carcinomas-initial-clinical-experience
#16
Heidy Sierra, Oriol Yélamos, Miguel Cordova, Chih-Shan Jason Chen, Milind Rajadhyaksha
Laser ablation offers a procedure for precise, fast, and minimally invasive removal of superficial and early nodular basal cell carcinomas (BCCs). However, the lack of histopathological confirmation has been a limitation toward widespread use in the clinic. A reflectance confocal microscopy (RCM) imaging-guided approach offers cellular-level histopathology-like feedback directly on the patient, which may then guide and help improve the efficacy of the ablation procedure. Following an ex vivo benchtop study (reported in our earlier papers), we performed an initial study on 44 BCCs on 21 patients in vivo, using a pulsed erbium:ytterbium aluminum garnet laser and a contrast agent (aluminum chloride)...
August 2017: Journal of Biomedical Optics
https://www.readbyqxmd.com/read/28831623/structural-consequences-of-mutations-associated-with-idiopathic-restrictive-cardiomyopathy
#17
Svetlana Tarnovskaya, Artem Kiselev, Anna Kostareva, Dmitrij Frishman
Idiopathic restrictive cardiomyopathy (RCM, MIM# 115210) is the least common type of cardiomyopathies, often of genetic origin. Recently we described a spectrum of variants-classified as pathogenic, likely pathogenic and variants of unknown significance-in 24 patients suffering from idiopathic RCM. Pathogenic variants, detected in half of the RCM cases, were found in sarcomeric and cytoskeletal genes that have a predominant role in the development of RCM. Here we have analyzed the structural consequences of these missense variants and predicted their effect on the function of three large groups of domains: intrinsically disordered regions (IDRs), fibronectin-type III (FnIII) domains, and immunoglobulin-like (Ig) domains...
August 22, 2017: Amino Acids
https://www.readbyqxmd.com/read/28821499/primary-ventricular-tachycardia-in-paediatric-population-in-a-tertiary-centre
#18
Shuenn-Nan Chiu, Wei-Lun Wu, Chun-Wei Lu, Wei-Chieh Tseng, Kun-Lang Wu, Jou-Kou Wang, Mei-Hwan Wu
OBJECTIVE: To delineate the outcome of ventricular tachycardia (VT) in the paediatric population. METHODS: Patients who developed sustained VT between the ages of 0 and 18 years in a referral centre from 1991 to 2015 were enrolled. RESULTS: A total of 116 patients (67 male/49 female) had documented VT, and 53 (46%) had associated heart disease, namely cardiomyopathy in 20 (17%), structural heart disease in 19 (16%) and channelopathy in 14 (12%), and some of them presented with two types of associated heart disease...
August 18, 2017: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/28816741/reflectance-confocal-microscopy-criteria-of-pigmented-squamous-cell-carcinoma-in-situ
#19
Neda Shahriari, Jane M Grant-Kels, Harold S Rabinovitz, Margaret Oliviero, Alon Scope
Pigmented squamous cell carcinoma in situ (pSCCis) is difficult to diagnose based on clinical and dermoscopic examination. Reflectance confocal microscopy (RCM) allows noninvasive differentiation between malignant and benign pigmented skin lesions. We determined the frequency of key RCM features of pSCCis and correlated the RCM criteria with the corresponding dermoscopic and histopathologic criteria. The study included 28 lesions with biopsy-proven diagnosis of pSCCis derived from 28 patients. Clinical, dermoscopic, and RCM images of these lesions were retrospectively analyzed by 3 independent observers...
August 9, 2017: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/28815753/aruncin-b-synthetic-studies-structural-reassignment-and-biological-evaluation
#20
Aubert Ribaucourt, Christopher Towers, Laia Josa-Culleré, Frances Willenbrock, Amber Thompson, David M Hodgson
A ring-closing alkene metathesis (RCM) / oxyselenation-selenoxide elimination sequence was established to the sodium salts E- and Z-25 of the originally proposed structure for the recently isolated cytotoxin aruncin B (1), as well as to the sodium salt Z-34 of a related ethyl ether regioisomer; however, none of their corresponding free acids could be obtained. Their acid sensitivity, together with detailed analysis of the spectroscopic data indicated that profound structural revision was necessary. This led to reassignment of aruncin B as a Z-γ-alkylidenebutenolide Z-36...
August 16, 2017: Chemistry: a European Journal
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