2D\n: two-dimensional\n99mTc-DPD\n: 99mTechnetium-3,3-diphosphono- 1,2-propanodi-carboxylic acid\nACE\n: angiotensin-converting enzyme\nAF\n: atrial fibrillation\nAL\n: amyloid light chain\nAR\n: aortic regurgitation\nARB\n: angiotensin receptor blocker\nATTR\n: amyloidosis-transthyretin type\nAV\n: atrioventricular\nBiVAD\n: biventricular assist device\nBNP\n: brain natriuretic peptide\nBPM\n: Beats per minute\nCCS\n: Canadian Cardiovascular Society\nCFC\n: cardiofacialcutaneous\nCHA2DS2-VASc\n: Congestive Heart failure, hypertension, Age ≥75 (doubled), Diabetes, Stroke (doubled), Vascular disease, Age 65–74, and Sex (female)\nCMR\n: cardiac magnetic resonance\nCRT\n: cardiac resynchronization therapy\nCRT-D\n: cardiac resynchronization therapy-defibrillator\nCRT-P\n: Cardiac resynchronization therapy with a pacemaker\nCT\n: computed tomography\nDC\n: direct current\nDNA\n: deoxyribonucleic acid\nE/A\n: ratio of mitral peak velocity of early filling (E) to mitral peak velocity of late filling (A)\nE/e’\n: ratio of early transmitral flow velocity (E) to early mitral annulus velocity (e’)\nEACTS\n: European Association for Cardio-Thoracic Surgery\nECG\n: electrocardiogram\nEF\n: ejection fraction\nEPS\n: electrophysiological study\nESC\n: European Society of Cardiology\nFDA\n: (US) Food and Drug Administration\nFHL1\n: four and a half LIM domains 1\nHAS-BLED\n: hypertension, abnormal renal/liver function, stroke, bleeding history or predisposition, labile INR, elderly (>65 years), drugs/alcohol concomitantly\nHCM\n: hypertrophic cardiomyopathy\nhs-cTnT\n: high sensitivity cardiac troponin T\nHTS\n: high throughput sequencing\nICD\n: implantable cardioverter defibrillator\nILR\n: implantable loop recorder\nINR\n: international normalized ratio\nIUD\n: intrauterine device\nLA\n: left atrium\nLAMP-2\n: lysosome-associated membrane protein 2\nLBBB\n: left bundle branch block\nLEOPARD\n: Lentigines, ECG abnormalities, Ocular hypertelorism, Pulmonary stenosis, Abnormal genitalia, Retardation of growth, and sensory-neural Deafness\nLGE\n: late gadolinium enhancement\nLV\n: left ventricular\nLVAD\n: left ventricular assist device\nLVH\n: left ventricular hypertrophy\nLVOTO\n: left ventricular outlow tract obstruction\nMADIT-RIT\n: Multicenter Automatic Defibrillator Implantation Trial—Reduce Inappropriate Therapy\nMAPK\n: mitogen activated protein kinase\nMELAS\n: mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes\nMERFF\n: myoclonic epilepsy with ragged red fibres\nMRA\n: mineralocorticoid receptor antagonist\nMYBPC3\n: myosin-binding protein C, cardiac-type\nMYH7\n: myosin-7 (s-myosin heavy chain)\nMYL3\n: myosin light chain 3\nNOAC\n: new oral anticoagulants\nNSVT\n: non-sustained ventricular tachycardia\nNT-proBNP\n: N-terminal pro brain natriuretic peptide\nNYHA\n: New York Heart Association\nOAC\n: oral anticoagulants\no.d.\n: omni die (every day)\nPC-CMR\n: phase contrast cardiac magnetic resonance\nPDE5\n: phosphodiesterase type 5\nPET\n: positron emission tomography\nPRKAG2\n: gamma-2 sub-unit of the adenosine monophosphate-activated protein kinase\nRAAS\n: renin angiotensin aldosterone system\nRV\n: right ventricular\nSAM\n: systolic anterior motion\nSCD\n: sudden cardiac death\nSAA\n: septal alcohol ablation\nS-ICD™\n: Subcutaneous lead implantable cardioverter defibrillator\nSPECT\n: single photon emission computed tomography\nSSFP\n: steady-state free precession\nSVT\n: supraventricular tachycardia\nTOE\n: transoesophageal echocardiography\nTNNI3\n: troponin I, cardiac muscle\nTNNT2\n: troponin T, cardiac muscle\nTPM1\n: tropomyosin alpha-1 chain\nTTE\n: transthoracic echocardiography\nTTR\n: transthyretin\nVF\n: ventricular fibrillation\nVKA\n: vitamin K antagonist\nVT\n: ventricular tachycardia\nWHO\n: World Health Organization\n\nGuidelines summarize and evaluate all available evidence at the time of the writing process, on a particular issue with the aim of assisting health professionals in selecting the best management strategies for an individual patient, with a given condition, taking into account the impact on outcome, as well as the risk-benefit-ratio of particular diagnostic or therapeutic means. Guidelines and recommendations should help the health professionals to make decisions in their daily practice. However, the final decisions concerning an individual patient must be made by the responsible health professional(s) in consultation with the patient and caregiver as appropriate.\n\nA great number of Guidelines have been issued in recent years by the European Society of Cardiology (ESC) as well as by other societies and organisations. Because of the impact on clinical practice, quality criteria for the development of guidelines have been established in order to make all decisions transparent to the user. The recommendations for formulating and issuing ESC Guidelines can be found on the ESC website (http://www.escardio.org/guidelines-surveys/esc-guidelines/about/Pages/rules-writing.aspx). ESC Guidelines represent the official position of the ESC on a given topic and are regularly updated.\n\nMembers of this Task Force were selected by the ESC to represent professionals involved with the medical care of patients with this pathology. Selected experts in the field undertook a comprehensive review of the published evidence for management (including diagnosis, treatment, prevention and rehabilitation) of a given condition according to ESC Committee for Practice Guidelines (CPG) policy. A critical evaluation of diagnostic and therapeutic procedures was performed including assessment of the risk-benefit-ratio. Estimates of expected health outcomes for larger populations were included, where data exist. The level of evidence and the strength of recommendation of particular management options were weighed and graded according to predefined scales, as outlined in Tables 1 and 2 .\n\nThe experts of …

2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy The Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC)

In 2008, we published the first set of guidelines for standardizing research in autophagy. Since then, this topic has received increasing attention, and many scientists have entered the field. Our knowledge base and relevant new technologies have also been expanding. Thus, it is important to formulate on a regular basis updated guidelines for monitoring autophagy in different organisms. Despite numerous reviews, there continues to be confusion regarding acceptable methods to evaluate autophagy, especially in multicellular eukaryotes. Here, we present a set of guidelines for investigators to select and interpret methods to examine autophagy and related processes, and for reviewers to provide realistic and reasonable critiques of reports that are focused on these processes. These guidelines are not meant to be a dogmatic set of rules, because the appropriateness of any assay largely depends on the question being asked and the system being used. Moreover, no individual assay is perfect for every situation, calling for the use of multiple techniques to properly monitor autophagy in each experimental setting. Finally, several core components of the autophagy machinery have been implicated in distinct autophagic processes (canonical and noncanonical autophagy), implying that genetic approaches to block autophagy should rely on targeting two or more autophagy-related genes that ideally participate in distinct steps of the pathway. Along similar lines, because multiple proteins involved in autophagy also regulate other cellular pathways including apoptosis, not all of them can be used as a specific marker for bona fide autophagic responses. Here, we critically discuss current methods of assessing autophagy and the information they can, or cannot, provide. Our ultimate goal is to encourage intellectual and technical innovation in the field.

Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)

Chromosomal microarray (CMA) is increasingly utilized for genetic testing of individuals with unexplained developmental delay/intellectual disability (DD/ID), autism spectrum disorders (ASD), or multiple congenital anomalies (MCA). Performing CMA and G-banded karyotyping on every patient substantially increases the total cost of genetic testing. The International Standard Cytogenomic Array (ISCA) Consortium held two international workshops and conducted a literature review of 33 studies, including 21,698 patients tested by CMA. We provide an evidence-based summary of clinical cytogenetic testing comparing CMA to G-banded karyotyping with respect to technical advantages and limitations, diagnostic yield for various types of chromosomal aberrations, and issues that affect test interpretation. CMA offers a much higher diagnostic yield (15%–20%) for genetic testing of individuals with unexplained DD/ID, ASD, or MCA than a G-banded karyotype (~3%, excluding Down syndrome and other recognizable chromosomal syndromes), primarily because of its higher sensitivity for submicroscopic deletions and duplications. Truly balanced rearrangements and low-level mosaicism are generally not detectable by arrays, but these are relatively infrequent causes of abnormal phenotypes in this population (<1%). Available evidence strongly supports the use of CMA in place of G-banded karyotyping as the first-tier cytogenetic diagnostic test for patients with DD/ID, ASD, or MCA. G-banded karyotype analysis should be reserved for patients with obvious chromosomal syndromes (e.g., Down syndrome), a family history of chromosomal rearrangement, or a history of multiple miscarriages.

/pdf/consensus-statement-chromosomal-microarray-is-a-first-tier-2ghzduag14.pdf

Consensus Statement : Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

中枢神経系疾患の治療は正常細胞（ニューロン）の機能維持を目的とするが，脳血管障害のように機能障害の原因が細胞の死滅に基づくことは多い．一方，脳腫瘍の治療においては薬物療法や放射線療法といった腫瘍細胞の死滅を目標とするものが大きな位置を占める．いずれの場合にも，細胞死の機序を理解することは各種病態や治療法の理解のうえで重要である．現在のところ最も研究の進んでいる細胞死の型はアポトーシスである．そのなかで重要な位置を占めるミトコンドリアにおける反応および抗アポトーシス因子について概要を紹介する．

Neuroscience 細胞死：最近の知見

Circular RNA transcripts were first identified in the early 1990s but knowledge of these species has remained limited, as their study through traditional methods of RNA analysis has been difficult Now, novel bioinformatic approaches coupled with biochemical enrichment strategies and deep sequencing have allowed comprehensive studies of circular RNA species Recent studies have revealed thousands of endogenous circular RNAs in mammalian cells, some of which are highly abundant and evolutionarily conserved Evidence is emerging that some circRNAs might regulate microRNA (miRNA) function, and roles in transcriptional control have also been suggested Therefore, study of this class of noncoding RNAs has potential implications for therapeutic and research applications We believe the key future challenge for the field will be to understand the regulation and function of these unusual molecules

Detecting and characterizing circular RNAs

Nanoparticella del tipo core-shell idonea per la veicolazione di oligonucleotidi terapeutici in tessuti bersaglio e suo impiego per la preparazione di un medicamento per il trattamento della distrofia muscolare di duchenne.

Introduction: Duchenne muscular dystrophy is a severe, X-linked disease characterized by decreased muscle mass and function in children. Genetic and biochemical research over the years has led to t...

Clinical application of molecular biomarkers in Duchenne muscular dystrophy: challenges and perspectives

Altered trafficking of POPDC1S201F underlies rare muscular dystrophy with arrhythmia

AUSL della Romagna, Medical Genetics Unit, Cesena, Azienda OspedalieroUniversitaria di Ferrara, Medical Genetics Unit, Ferrara, AUSL della Romagna ENT Unit, Cesena, Neurosciences Department, Università di Padova, Otorhinolaryngology Unit, Padova, Italy Correspondence to Giulia Parmeggiani, MD, AUSL della Romagna Medical Genetics Unit, 47522 Cesena, Italy Tel: +39 0547 394841; fax: +39 0547 352008; e-mail: giulia.parmeggiani@auslromagna.it

A familial case of NOG-related symphalangism spectrum disorder due to a novel NOG variant

VP.22 Dystrophin transcript profile in urinary stem cells allows to study the impact of missense mutations

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