New evidence and consensus has led to further revision of the McDonald Criteria for diagnosis of multiple sclerosis. The use of imaging for demonstration of dissemination of central nervous system lesions in space and time has been simplified, and in some circumstances dissemination in space and time can be established by a single scan. These revisions simplify the Criteria, preserve their diagnostic sensitivity and specificity, address their applicability across populations, and may allow earlier diagnosis and more uniform and widespread use.

/pdf/diagnostic-criteria-for-multiple-sclerosis-2010-revisions-to-24iph50480.pdf

Diagnostic criteria for multiple sclerosis: 2010 Revisions to the McDonald criteria

New diagnostic criteria for multiple sclerosis integrating magnetic resonance image assessment with clinical and other paraclinical methods were introduced in 2001. The "McDonald Criteria" have been extensively assessed and used since 2001. New evidence and consensus now strengthen the role of these criteria in the multiple sclerosis diagnostic workup to demonstrate dissemination of lesions in time, to clarify the use of spinal cord lesions, and to simplify diagnosis of primary progressive disease. The 2005 Revisions to the McDonald Diagnostic Criteria for MS should simplify and speed diagnosis, whereas maintaining adequate sensitivity and specificity.

https://www.onlinelibrary.wiley.com/doi/epdf/10.1002/ana.20703

Diagnostic criteria for multiple sclerosis: 2005 revisions to the "McDonald Criteria".

https://www.hopkinsmedicine.org/neurology_neurosurgery/research/labs/als_center/_docs/rothstein_c9orf72.pdf

A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD

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)

Summary Neuromyelitis optica (also known as Devic's disease) is an idiopathic, severe, demyelinating disease of the central nervous system that preferentially affects the optic nerve and spinal cord. Neuromyelitis optica has a worldwide distribution, poor prognosis, and has long been thought of as a variant of multiple sclerosis; however, clinical, laboratory, immunological, and pathological characteristics that distinguish it from multiple sclerosis are now recognised. The presence of a highly specific serum autoantibody marker (NMO-IgG) further differentiates neuromyelitis optica from multiple sclerosis and has helped to define a neuromyelitis optica spectrum of disorders. NMO-IgG reacts with the water channel aquaporin 4. Data suggest that autoantibodies to aquaporin 4 derived from peripheral B cells cause the activation of complement, inflammatory demyelination, and necrosis that is seen in neuromyelitis optica. The knowledge gained from further assessment of the exact role of NMO-IgG in the pathogenesis of neuromyelitis optica will provide a foundation for rational therapeutic trials for this rapidly disabling disease.

/pdf/the-spectrum-of-neuromyelitis-optica-1apj94f51h.pdf

The spectrum of neuromyelitis optica

/pdf/co-occurrence-of-amyotrophic-lateral-sclerosis-and-lebers-1zz43lpn.pdf

Fabrizio Salvi

Papers

Co-occurrence of amyotrophic lateral sclerosis and Leber’s hereditary optic neuropathy: is mitochondrial dysfunction a modifier?