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https://www.readbyqxmd.com/read/28528377/correlation-between-corneal-innervation-and-inflammation-evaluated-with-confocal-microscopy-and-symptomatology-in-patients-with-dry-eye-syndromes-a-preliminary-study
#1
Tudor C Tepelus, Gloria B Chiu, Jianyan Huang, Ping Huang, SriniVas R Sadda, John Irvine, Olivia L Lee
PURPOSE: To evaluate corneal innervation and inflammatory cell infiltration using in vivo confocal microscopy (IVCM) and to correlate these findings with subjective symptoms of dry eye, as measured by the Ocular Surface Disease Index (OSDI) in patients with non-Sjögren's (NSDE) and Sjögren's syndrome dry eyes (SSDE). METHODS: Central corneal images were prospectively captured from 10 age-matched healthy control eyes, 24 eyes with clinically diagnosed NSDE and 44 eyes with clinically diagnosed SSDE, using IVCM (HRT III RCM)...
May 20, 2017: Graefe's Archive for Clinical and Experimental Ophthalmology
https://www.readbyqxmd.com/read/28523323/discovery-of-a-new-mutation-in-the-desmin-gene-in-a-young-patient-with-cardiomyopathy-and-muscular-weakness
#2
Ruxandra Oana JurcuŢ, Alexandra Eugenia Bastian, Sebastian Militaru, Aura Popa, Emilia Manole, Bogdan Alexandru Popescu, Jonna Tallila, Bogdan Ovidiu Popescu, Carmen Doina Ginghină
A 25-year-old woman with a five years history of syncope, mild left ventricular hypertrophy and moderately enlarged atria, was diagnosed with third degree atrioventricular heart block alternating with atrioventricular heart block 2:1, and received a dual chamber pacemaker. After three years of evolution, she developed atrial fibrillation, marked biatrial enlargement, severely depressed longitudinal myocardial velocities, associated with mild girdle weakness and slight increase in creatine kinase level. The diagnosis of restrictive cardiomyopathy with mild skeletal myopathy imposed the screening for a common etiology...
2017: Romanian Journal of Morphology and Embryology, Revue Roumaine de Morphologie et Embryologie
https://www.readbyqxmd.com/read/28523319/amyloidosis-a-rare-cause-of-refractory-heart-failure-in-a-young-female
#3
Irina Iuliana Costache, Claudia Florida Costea, Mihai Danciu, Victor Vlad Costan, Viviana Aursulesei, Gabriela FlorenŢa Dumitrescu, Mihaela Dana Turliuc, Anca Sava
Cardiac amyloidosis may occur in any type of systemic amyloidosis. The clinical picture is often characterized by restrictive cardiomyopathy. We report the case of a 41-year-old female patient admitted to the Department of Cardiology with clinical signs of right heart failure: congested jugular veins, hepatomegaly, peripheral edema, ascites associated with atrial fibrillation, low values of arterial blood pressure and oliguria. Echocardiographic findings were helpful for the diagnosis of cardiac amyloidosis: enlarged atrial cavities, normal size ventricles, thickened ventricular septum and posterior left ventricle wall with normal left ventricular ejection fraction, mitral and tricuspid regurgitation...
2017: Romanian Journal of Morphology and Embryology, Revue Roumaine de Morphologie et Embryologie
https://www.readbyqxmd.com/read/28515994/in-vivo-reflectance-confocal-microscopy-a-useful-non-invasive-tool-to-assess-the-response-to-isolated-limb-perfusion-for-superficial-pigmented-melanoma-in-transit-metastatic-disease-report-of-a-case
#4
Rastine Merat, Wolf-Henning Boehncke, Gürkan Kaya
Complete response can be difficult to assess after isolated limb perfusion (ILP) for metastatic in-transit melanoma, especially when numerous and unresectable post-necrotic persisting pigmented lesions occur. These residual lesions are mainly seen in the more superficial and pigmented types of metastatic disease and correspond to the residual melanophage granuloma that persists after tumor tissues undergo complete necrosis. Reflectance confocal microscopy (RCM) is a non-invasive technique that allows the exploration of the superficial dermis...
April 2017: Dermatology Practical & Conceptual
https://www.readbyqxmd.com/read/28515850/dissection-of-z-disc-myopalladin-gene-network-involved-in-the-development-of-restrictive-cardiomyopathy-using-system-genetics-approach
#5
Qingqing Gu, Uzmee Mendsaikhan, Zaza Khuchua, Byron C Jones, Lu Lu, Jeffrey A Towbin, Biao Xu, Enkhsaikhan Purevjav
AIM: To investigate the regulation of Myopalladin (Mypn) and identify its gene network involved in restrictive cardiomyopathy (RCM). METHODS: Gene expression values were measured in the heart of a large family of BXD recombinant inbred (RI) mice derived from C57BL/6J and DBA/2J. The proteomics data were collected from Mypn knock-in and knock-out mice. Expression quantitative trait locus (eQTL) mapping methods and gene enrichment analysis were used to identify Mypn regulation, gene pathway and co-expression networks...
April 26, 2017: World Journal of Cardiology
https://www.readbyqxmd.com/read/28513755/re-assembled-casein-micelles-improve-in-vitro-bioavailability-of-vitamin-d-in-a-caco-2-cell-model
#6
Yifat Cohen, Moran Levi, Uri Lesmes, Marielle Margier, Emmanuelle Reboul, Yoav D Livney
The pandemic of vitamin D (VD) deficiency, and the global rise in obesity stimulate a need for staple low-fat foods and beverages enriched with VD. In light of consumer demand for a clean label, the use of natural endogenous food ingredients as delivery vehicles is of great interest. To this end, re-assembled casein micelles (rCM) have been shown to help retain VD during processing and shelf life and provide high bioavailability in low-fat milk and non-fat yoghurt. This follow-up study focused on the performance of VD-loaded rCM after drying and reconstitution, considering VD retention during simulated digestion, and the subsequent in vitro bioavailability of the vitamin...
May 17, 2017: Food & Function
https://www.readbyqxmd.com/read/28510718/multimodality-imaging-in-restrictive-cardiomyopathies-an-eacvi-expert-consensus-document-in-collaboration-with-the-working-group-on-myocardial-and-pericardial-diseases-of-the-european-society-of-cardiology-endorsed-by-the-indian-academy-of-echocardiography
#7
Gilbert Habib, Chiara Bucciarelli-Ducci, Alida L P Caforio, Nuno Cardim, Philippe Charron, Bernard Cosyns, Aurélie Dehaene, Genevieve Derumeaux, Erwan Donal, Marc R Dweck, Thor Edvardsen, Paola Anna Erba, Laura Ernande, Oliver Gaemperli, Maurizio Galderisi, Julia Grapsa, Alexis Jacquier, Karin Klingel, Patrizio Lancellotti, Danilo Neglia, Alessia Pepe, Pasquale Perrone-Filardi, Steffen E Petersen, Sven Plein, Bogdan A Popescu, Patricia Reant, L Elif Sade, Erwan Salaun, Riemer H J A Slart, Christophe Tribouilloy, Jose Zamorano
Restrictive cardiomyopathies (RCMs) are a diverse group of myocardial diseases with a wide range of aetiologies, including familial, genetic and acquired diseases and ranging from very rare to relatively frequent cardiac disorders. In all these diseases, imaging techniques play a central role. Advanced imaging techniques provide important novel data on the diagnostic and prognostic assessment of RCMs. This EACVI consensus document provides comprehensive information for the appropriateness of all non-invasive imaging techniques for the diagnosis, prognostic evaluation, and management of patients with RCM...
May 16, 2017: European Heart Journal Cardiovascular Imaging
https://www.readbyqxmd.com/read/28497843/heart-failure-pilot-transcriptomic-analysis-of-cardiac-tissue-by-rna-sequencing
#8
Concetta Schiano, Valerio Costa, Marianna Aprile, Vincenzo Grimaldi, Ciro Maiello, Roberta Esposito, Andrea Soricelli, Vittorio Colantuoni, Francesco Donatelli, Alfredo Ciccodicola, Claudio Napoli
BACKGROUND: Despite left ventricular (LV) dysfunction contributing to mortality in chronic heart failure (HF), the molecular mechanisms of LV failure continues to remain poorly understood and myocardial biomarkers have yet to be identified. The aim of this pilot study was to investigate specific transcriptome changes occurring in cardiac tissues of patients with HF compared to healthy condition patients to improve diagnosis and possible treatment of affected subjects. METHODS: Unlike other studies, only dilated cardiomyopathy (DCM) (n = 2) and restrictive cardiomyopathy (RCM) (n = 2) patients who did not report family history of the disease were selected with the aim of obtaining a homogeneous population for the study...
May 12, 2017: Cardiology Journal
https://www.readbyqxmd.com/read/28493373/the-novel-%C3%AE-b-crystallin-cryab-mutation-p-d109g-causes-restrictive-cardiomyopathy
#9
Andreas Brodehl, Anna Gaertner-Rommel, Bärbel Klauke, Simon Andre Grewe, Ilona Schirmer, Andreas Peterschröder, Lothar Faber, Matthias Vorgerd, Jan Gummert, Dario Anselmetti, Uwe Schulz, Lech Paluszkiewicz, Hendrik Milting
Restrictive cardiomyopathy (RCM) is a rare heart disease characterized by diastolic dysfunction and atrial enlargement. The genetic etiology of RCM is not completely known. We identified by a next-generation sequencing panel the novel CRYAB missense mutation c.326A>G, p.D109G in a small family with RCM in combination with skeletal myopathy with an early onset of the disease. CRYAB encodes αB-Crystallin, a member of the small heat shock protein family, which is highly expressed in cardiac and skeletal muscle...
May 11, 2017: Human Mutation
https://www.readbyqxmd.com/read/28482666/chlorinated-polyfluoroalkyl-ether-sulfonic-acids-in-matched-maternal-cord-and-placenta-samples-a-study-of-transplacental-transfer
#10
Fangfang Chen, Shanshan Yin, Barry C Kelly, Weiping Liu
Currently, information regarding concentrations of chlorinated polyfluoroalkyl ether sulfonic acids (Cl-PFESAs) in human placenta does not exist. The main objective of this study was to assess the occurrence and distribution of two Cl-PFESAs, 6:2 Cl-PFESA and 8:2 Cl-PFESA, in maternal serum, umbilical cord serum, and placenta to better assess the transport pathways related to human prenatal exposure. The widely studied perfluorooctanesulfonate (PFOS) was studied for comparison. This study was a hospital-based survey involving quantitative determination of Cl-PFESA and PFOS concentrations in maternal serum (n = 32), cord serum (n = 32), and placenta (n = 32) samples from women in Wuhan, China...
May 12, 2017: Environmental Science & Technology
https://www.readbyqxmd.com/read/28467525/in-vivo-reflectance-confocal-microscopy-for-the-diagnosis-of-melanoma-and-melanotic-macules-of-the-lip
#11
Pablo Uribe, Helena Collgros, Richard A Scolyer, Scott W Menzies, Pascale Guitera
Importance: Benign melanotic macules (MAC) are the most frequent cause of lip pigmentation and sometimes difficult to differentiate from lip melanoma (MEL). Objectives: To report in vivo reflectance confocal microscopy (RCM) features of normal lips of different phototypes and to identify features that assist in distinguishing MEL from MAC using dermoscopy and RCM. Design, Setting, and Participants: For this retrospective observational study, 2 groups of patients from 2 tertiary referral centers for melanoma (Sydney Melanoma Diagnostic Centre and Melanoma Institute Australia) were recruited between June 2007 and January 2015...
May 3, 2017: JAMA Dermatology
https://www.readbyqxmd.com/read/28461794/surgical-treatment-of-constrictive-pericarditis
#12
REVIEW
Burak Can Depboylu, Parmeseeven Mootoosamy, Nicola Vistarini, Ariane Testuz, Ismail El-Hamamsy, Mustafa Cikirikcioglu
Constrictive pericarditis is the final stage of a chronic inflammatory process characterized by fibrous thickening and calcification of the pericardium that impairs diastolic filling, reduces cardiac output, and ultimately leads to heart failure. Transthoracic echocardiography, computed tomography, and cardiac magnetic resonance imaging each can reveal severe diastolic dysfunction and increased pericardial thickness. Cardiac catheterization can help to confirm a diagnosis of diastolic dysfunction secondary to pericardial constriction, and to exclude restrictive cardiomyopathy...
April 2017: Texas Heart Institute Journal
https://www.readbyqxmd.com/read/28460244/late-onset-cardiomyopathy-as-presenting-sign-of-attr-a45g-amyloidosis-caused-by-a-novel-ttr-mutation-p-a65g
#13
Sebastiaan H C Klaassen, Henny H Lemmink, Johan Bijzet, Andor W J M Glaudemans, Reinhard Bos, Wouter Plattel, Maarten P van den Berg, Riemer H J A Slart, Hans L A Nienhuis, Dirk J van Veldhuisen, Bouke P C Hazenberg
OBJECTIVE: The clinical description of a novel TTR gene mutation characterized by a late onset amyloid cardiomyopathy. METHODS AND RESULTS: A 78-year-old man of Dutch origin with recent surgery for bilateral carpal tunnel syndrome (CTS) was admitted to our hospital because of heart failure with preserved ejection fraction (55%). Cardiac ultrasound showed thickened biventricular walls, and cardiac magnetic resonance imaging also showed late gadolinium enhancement...
April 18, 2017: Cardiovascular Pathology: the Official Journal of the Society for Cardiovascular Pathology
https://www.readbyqxmd.com/read/28459678/multi-imager-compatible-mr-safe-remote-center-of-motion-needle-guide-robot
#14
Dan Stoianovici, Changhan Jun, Sunghwan Lim, Pan Li, Doru Petrisor, Stanley Fricke, Karun Sharma, Kevin Cleary
We report the development of a new robotic system for direct image-guided interventions, DIGI (images acquired at the time of the intervention). The manipulator uses our previously reported Pneumatic Step Motors and is entirely made of electrically nonconductive, nonmetallic, and nonmagnetic materials. It orients a needle-guide with 2 degrees of freedom (DoF) about a fulcrum point located below the guide using an innovative Remote Center of Motion (RCM) parallelogram type mechanism. The depth of manual needle insertion is preset with a 3rd DoF, located remotely of the manipulator...
April 25, 2017: IEEE Transactions on Bio-medical Engineering
https://www.readbyqxmd.com/read/28457383/kidney-transplantation-in-alstr%C3%A3-m-syndrome-case-report
#15
L Poli, G Arroyo, M Garofalo, E Choppin de Janvry, G Intini, A Saracino, R Pretagostini, F Della Pietra, P B Berloco
The Alström syndrome is a rare genetic disorder, inherited in an autosomal recessive manner. It has recently been classified as a ciliopathic disorder. Alström syndrome is a multiorgan pathology characterized by cone-rod dystrophy, hearing loss, childhood truncal obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dyslipidemia, short stature in adulthood, hypothyroidism, hypogonadism, dilated or restrictive cardiomyopathy, and progressive pulmonary, hepatic, and renal dysfunction. End-stage renal disease can occur as early as the late teens and is the leading cause of death...
May 2017: Transplantation Proceedings
https://www.readbyqxmd.com/read/28445763/myosin-rod-hypophosphorylation-and-cb-kinetics-in-papillary-muscles-from-a-tnc-a8v-ki-mouse-model
#16
Masataka Kawai, Jamie R Johnston, Tarek Karam, Li Wang, Rakesh K Singh, Jose R Pinto
The cardiac troponin C (TnC)-A8V mutation is associated with hypertrophic and restrictive cardiomyopathy (HCM and RCM) in human and mice. The residue affected lies in the N-helix, a region known to affect Ca(2+)-binding affinity to the N-terminal domain. Here we report on the functional effects of this mutation in skinned papillary muscle fibers from homozygous knock-in TnC-A8V mice. Muscle fibers from left ventricle were activated at 25°C under the ionic conditions of working cardiomyocytes. The pCa-tension relationship showed a 3× increase in Ca(2+)-sensitivity and a decrease (0...
April 25, 2017: Biophysical Journal
https://www.readbyqxmd.com/read/28434222/isomer-specific-transplacental-transfer-of-perfluoroalkyl-acids-results-from-a-survey-of-paired-maternal-cord-sera-and-placentas
#17
Fangfang Chen, Shanshan Yin, Barry C Kelly, Weiping Liu
Currently, information regarding isomer-specific concentrations of PFHxS, PFOS, and PFOA in human placenta, and corresponding placental-maternal ratios (RPM) of these compounds does not exist. The objective of the present study was to assess the occurrence, and distribution of different PFHxS, PFOS, and PFOA isomers in maternal serum, umbilical cord serum, and placenta to gain a better understanding of transplacental transport efficiency and prenatal exposure risks. The study involved quantitative determination of isomer-specific concentrations of PFHxS, PFOS, and PFOA in samples of maternal serum (n = 32), cord serum (n = 32), and placenta (n = 32) from pregnant women in Wuhan, China...
May 1, 2017: Environmental Science & Technology
https://www.readbyqxmd.com/read/28430732/noninvasive-rcm-for-differentiation-of-melanotic-macules-from-melanocytic-lesions-blinded-evaluation-of-a-series-of-42-pigmented-macules
#18
Martin Laimer, Edith Arzberger, Clara-Anna Kirchner, Christine Prodinger, Rainer Hofmann-Wellenhof, Verena Ahlgrimm-Siess
BACKGROUND: Differentiation of melanotic macules from melanocytic lesions, most importantly of melanoma, is a common problem on clinical-dermoscopic examination. OBJECTIVE: To assess the value of noninvasive reflectance confocal microscopy (RCM) in the differential diagnosis of melanotic macules and melanocytic lesions. PATIENTS AND METHODS: Reflectance confocal microscopy images of 42 pigmented macules on mucocutaneous junctions of genitalia and lips, including 31 melanotic macules, 6 nevi, and 5 melanomas, were retrospectively and independently assessed in a blinded manner by one expert observer and 2 less experienced observers together...
April 19, 2017: Dermatologic Surgery: Official Publication for American Society for Dermatologic Surgery [et Al.]
https://www.readbyqxmd.com/read/28421174/utility-of-cardiovascular-magnetic-resonance-derived-wave-intensity-analysis-as-a-marker-of-ventricular-function-in-children-with-heart-failure-and-normal-ejection-fraction
#19
Hopewell N Ntsinjana, Robin Chung, Paolo Ciliberti, Vivek Muthurangu, Silvia Schievano, Jan Marek, Kim H Parker, Andrew M Taylor, Giovanni Biglino
OBJECTIVE: This study sought to explore the diagnostic insight of cardiovascular magnetic resonance (CMR)-derived wave intensity analysis to better study systolic dysfunction in young patients with chronic diastolic dysfunction and preserved ejection fraction (EF), comparing it against other echocardiographic and CMR parameters. BACKGROUND: Evaluating systolic and diastolic dysfunctions in children is challenging, and a gold standard method is currently lacking...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/28420953/using-cochlear-microphonic-potentials-to-localize-peripheral-hearing-loss
#20
Karolina K Charaziak, Christopher A Shera, Jonathan H Siegel
The cochlear microphonic (CM) is created primarily by the receptor currents of outer hair cells (OHCs) and may therefore be useful for identifying cochlear regions with impaired OHCs. However, the CM measured across the frequency range with round-window or ear-canal electrodes lacks place-specificity as it is dominated by cellular sources located most proximal to the recording site (e.g., at the cochlear base). To overcome this limitation, we extract the "residual" CM (rCM), defined as the complex difference between the CM measured with and without an additional tone (saturating tone, ST)...
2017: Frontiers in Neuroscience
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