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https://www.readbyqxmd.com/read/28220409/irreversibility-of-symptoms-with-biotin-therapy-in-an-adult-with-profound-biotinidase-deficiency
#1
Patrick Ferreira, Alicia Chan, Barry Wolf
We report a 36-year-old woman who exhibited progressive optic atrophy at 13 years old, then stroke-like episodes and spastic diplegia in her 20s. Biotinidase deficiency was not readily considered in the differential diagnosis, and the definitive diagnosis was not made until pathological variants of the biotinidase gene (BTD) were found by exome sequencing. Profound biotinidase deficiency was confirmed by enzyme analysis. Unfortunately, her symptoms did not resolve or improve with biotin treatment. Biotin therapy is essential for all individuals with profound biotinidase deficiency and for preventing further damage in those who already exhibit irreversible neurological damage...
February 21, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28212190/endothelial-cell-disease-emerging-knowledge-from-cerebral-cavernous-malformations
#2
Maria Grazia Lampugnani, Matteo Malinverno, Elisabetta Dejana
PURPOSE OF REVIEW: Endothelial cells dysfunctions are crucial determinants of several human diseases. We review here the most recent reports on endothelial cell defects in cerebral cavernous malformations (CCMs), particularly focusing on adherens junctions. CCM is a vascular disease that affects specifically the venous microvessels of the central nervous system and which is caused by loss-of-function mutation in any one of the three CCM genes (CCM1, 2 or 3) in endothelial cells. The phenotypic result of these mutations are focal vascular malformations that are permeable and fragile causing neurological symptoms and occasionally haemorrhagic stroke...
February 16, 2017: Current Opinion in Hematology
https://www.readbyqxmd.com/read/28210989/net-clinical-benefit-of-dabigatran-vs-warfarin-in-venous-thromboembolism-analyses-from-re-cover-%C3%A2-re-cover%C3%A2-ii-and-re-medy%C3%A2
#3
Martin Feuring, Sam Schulman, Henry Eriksson, Ajay J Kakkar, Sebastian Schellong, Stefan Hantel, Elke Schueler, Jörg Kreuzer, Samuel Z Goldhaber
The direct oral anticoagulants, e.g., dabigatran etexilate (DE), are effective and well tolerated treatments for venous thromboembolism (VTE). Net clinical benefit (NCB) is a useful concept in weighing potential benefits against potential harm of comparator drugs. The NCB of DE vs. warfarin in VTE treatment was compared. Post-hoc analyses were performed on pooled data from the 6-month RE-COVER® and RE-COVER™ II trials, and data from the RE-MEDY™ trial (up to 36 months), to compare the NCB of DE (150 mg twice daily) and warfarin [target international normalized ratio (INR) 2...
February 16, 2017: Journal of Thrombosis and Thrombolysis
https://www.readbyqxmd.com/read/28209139/stroke-caused-by-an-inflammatory-thrombus-a-case-report
#4
Kai Shan, Wei Guo
BACKGROUND: Stroke is the leading cause of mortality and disability worldwide. Several definite risk factors have been identified for stroke, although infectious factors might also contribute to stroke episodes through increased susceptibility or direct induction. CASE PRESENTATION: A 46-year-old Chinese male initially presented with fever, headache, and impaired memory and developed disturbance of consciousness after admission. A clinical diagnosis of Staphylococcus aureus sepsis, massive cerebral infarction and haemorrhagic transformation (left internal carotid arterial system, inflammatory thrombus) were made based on brain radiography, blood culture and postoperative pathological examinations...
February 16, 2017: BMC Neurology
https://www.readbyqxmd.com/read/28206827/validity-of-the-symbol-digit-modalities-test-as-a-cognition-performance-outcome-measure-for-multiple-sclerosis
#5
Ralph Hb Benedict, John DeLuca, Glenn Phillips, Nicholas LaRocca, Lynn D Hudson, Richard Rudick
Cognitive and motor performance measures are commonly employed in multiple sclerosis (MS) research, particularly when the purpose is to determine the efficacy of treatment. The increasing focus of new therapies on slowing progression or reversing neurological disability makes the utilization of sensitive, reproducible, and valid measures essential. Processing speed is a basic elemental cognitive function that likely influences downstream processes such as memory. The Multiple Sclerosis Outcome Assessments Consortium (MSOAC) includes representatives from advocacy organizations, Food and Drug Administration (FDA), European Medicines Agency (EMA), National Institute of Neurological Disorders and Stroke (NINDS), academic institutions, and industry partners along with persons living with MS...
February 1, 2017: Multiple Sclerosis: Clinical and Laboratory Research
https://www.readbyqxmd.com/read/28206826/the-nine-hole-peg-test-as-a-manual-dexterity-performance-measure-for-multiple-sclerosis
#6
Peter Feys, Ilse Lamers, Gordon Francis, Ralph Benedict, Glenn Phillips, Nicholas LaRocca, Lynn D Hudson, Richard Rudick
Impaired manual dexterity is a frequently reported disability in people with multiple sclerosis (MS) and is increasingly prevalent with worsening disease. While various tests and patient-reported outcome measures are available, the Nine-Hole Peg Test (NHPT) is considered as a gold standard measure of manual dexterity and most frequently used in MS research and clinical practice. The MS Outcome Assessments Consortium (MSOAC) includes representatives from advocacy organizations, Food and Drug Administration (FDA), European Medicines Agency (EMA), National Institute of Neurological Disorders and Stroke (NINDS), academic institutions, and industry partners along with persons living with MS...
February 1, 2017: Multiple Sclerosis: Clinical and Laboratory Research
https://www.readbyqxmd.com/read/28205419/prevalence-of-cardiovascular-late-sequelae-in-long-term-survivors-of-childhood-cancer-a-systematic-review-and-meta-analysis
#7
Peter Scholz-Kreisel, Claudia Spix, Maria Blettner, Susan Eckerle, Jörg Faber, Philipp Wild, Hiltrud Merzenich, Ulrike Hennewig
BACKGROUND: Cardiovascular diseases are well-known late effects of childhood cancer and research on these late effects is a highly important emerging field. We conducted a systematic review with a meta-analysis to give an overview of the current evidence and the prevalence of late cardiovascular events. PROCEDURE: We included publications in which the study populations were children and adolescents who survived cancer. Outcome was defined as all cardiovascular clinical and subclinical endpoints or diagnoses appearing at least one year after cancer diagnosis...
February 16, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28190604/the-fate-of-acute-lacunar-lesions-in-terms-of-shape-and-size
#8
Ki Jeong Lee, Hyeyoung Jung, Yoon-Sang Oh, Eun Ye Lim, A-Hyun Cho
BACKGROUND: The description of lacunar infarcts on imaging is widely variable. In particular, there are fewer agreements on lacunar lesion size and the presence of cavitation. In this regard, we investigated the changes in size and shape of acute ischemic lesion that is possibly considered as small vessel occlusion on long-term follow-up. METHODS: Patients with acute single subcortical ischemic lesion on penetrating arterial territories and without definite cause of cardioembolism and large vessel disease were included...
February 9, 2017: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
https://www.readbyqxmd.com/read/28181217/hypercoagulability-and-migraine
#9
Gretchen E Tietjen, Stuart A Collins
BACKGROUND: A growing body of literature suggests that migraineurs, particularly those with aura, have an increased risk for ischemic stroke, but not via enhanced atherosclerosis. The theory that micro-emboli induced ischemia provokes cortical spreading depression (ie, symptomatic aura) in migraineurs but transient ischemic attacks in others highlights a potential role for hypercoagulability as a link between migraine (with aura) and stroke. AIM: Our objective is to summarize the literature evaluating the association of migraine with various acquired or inheritable thrombophilic states, including those related to elevated estrogen levels, endothelial activation and dysfunction, antiphospholipid antibodies (aPL), deficiency of coagulation inhibitors, and presence of certain genetic polymorphisms...
February 9, 2017: Headache
https://www.readbyqxmd.com/read/28174023/hydrogen-sulfide-in-stroke-protective-or-deleterious
#10
REVIEW
Su Jing Chan, Peter T-H Wong
Hydrogen sulfide is believed to be a signalling molecule in the central nervous system. It is known to increase rapidly following an ischemic insult in experimental stroke. Is it protective or deleterious? This review surveys the relevant information available in the literature. It appears that there is no definitive answer to this question at present. Current evidence seems to suggest that the presence of H2S in the ischemic brain may either be deleterious or protective depending on its concentration, deleterious when high and protective when low...
February 4, 2017: Neurochemistry International
https://www.readbyqxmd.com/read/28160976/global-outcome-in-patients-with-left-ventricular-assist-devices
#11
Timothy J Fendler, Michael E Nassif, Kevin F Kennedy, Susan M Joseph, Scott C Silvestry, Gregory A Ewald, Shane J LaRue, Justin M Vader, John A Spertus, Suzanne V Arnold
Left ventricular assist devices (LVADs) improve survival and quality of life (QOL) for most, but not all, patients with advanced heart failure. We described a broader definition of poor outcomes after LVAD, using a novel composite of death, QOL, and other major adverse events. We evaluated the frequency of poor global outcome at 1 year after LVAD among 164 patients (86% Interagency Registry for Mechanically Assisted Circulatory Support profile 1 to 2; shock or declining despite inotropes) at a high-volume center...
January 5, 2017: American Journal of Cardiology
https://www.readbyqxmd.com/read/28160964/association-between-the-20210g-a-prothrombin-gene-polymorphism-and-arterial-ischemic-stroke-in-children-and-young-adults-two-meta-analyses-of-3586-cases-and-6440-control-subjects-in-total
#12
Beata Sarecka-Hujar, Ilona Kopyta, Michal Skrzypek, Joanna Sordyl
BACKGROUND: Previous data have shown that the 20210G>A polymorphism of the Factor II gene is related to an increased prothrombin level, which may in turn lead to a procoagulant state. The heterogeneous and multifactorial character of arterial ischemic stroke often results in contradictory reports describing the association between the 20210G>A polymorphism and arterial ischemic stroke in different populations. We performed a meta-analysis of available data addressing the relation between the FII 20210G>A polymorphism and arterial ischemic stroke, both in young adults and children...
January 4, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28160261/imaging-of-the-ulcerated-carotid-atherosclerotic-plaque-a-review-of-the-literature
#13
REVIEW
Vasileios Rafailidis, Ioannis Chryssogonidis, Thomas Tegos, Konstantinos Kouskouras, Afroditi Charitanti-Kouridou
: Carotid atherosclerotic disease constitutes a major modern health problem whose diagnosis primarily relies on imaging. Grading of stenosis has been long used as the main factor for risk stratification and guiding of management. Nevertheless, increasing evidence has shown that additional plaque characteristics such as plaque composition and surface morphology play an important role in the occurrence of symptoms, justifying the term "vulnerable plaque". Carotid plaque surface characteristics either in the form of surface irregularities or ulceration represent an important factor of vulnerability and are associated with the occurrence of neurologic symptoms...
February 3, 2017: Insights Into Imaging
https://www.readbyqxmd.com/read/28157753/discussing-life-sustaining-therapy-with-surrogate-decision-makers
#14
David Y Hwang
Clinicians caring for patients with severe stroke in intensive care units often grapple with requests from surrogate decision makers for life-prolonging treatment that members of the care team may believe to be futile. An example is a surrogate decision maker's request to place a tracheostomy and feeding tube in a patient who, in the clinical judgment of the neurocritical care team, is very unlikely to recover interactive capacity. This article presents a case, discusses definitions of medical futility, and summarizes recommended steps for mediating conflict regarding potentially inappropriate treatment...
February 2017: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/28145039/procedural-and-30-day-clinical-outcomes-following-transcatheter-aortic-valve-replacement-with-lotus-valve-results-of-the-relevant-study
#15
Rocco A Montone, Luca Testa, Chiara Fraccaro, Matteo Montorfano, Fausto Castriota, Roberto Nerla, Marco Angelillis, Maurizio Tusa, Francesco Giannini, Andrea Garatti, Giuseppe Tarantini, Anna Sonia Petronio, Nedy Brambilla, Francesco Bedogni
OBJECTIVES: We report procedural and 30-day clinical outcomes following transcatheter aortic valve replacement (TAVR) with Lotus Valve system in a high-risk population. BACKGROUND: Lotus valve is a second-generation TAVR fully repositionable and retrievable device. RELEVANT (REgistry of Lotus valvE for treatment of aortic VAlve steNosis with Tavr) study is an Italian prospective multicentre registry. METHODS: Five major centers performing TAVR using Lotus participated...
February 1, 2017: Catheterization and Cardiovascular Interventions
https://www.readbyqxmd.com/read/28143922/epidemiology-of-transient-ischemic-attacks-using-time-or-tissue-based-definitions-a-population-based-study
#16
Diana Degan, Raffaele Ornello, Cindy Tiseo, Federica De Santis, Francesca Pistoia, Antonio Carolei, Simona Sacco
BACKGROUND AND PURPOSE: Transient ischemic attack (TIA) epidemiology may have changed in recent years as a consequence of improved identification and treatment of vascular risk factors. Our aim was to provide updated information about TIA epidemiology in Italy. METHODS: Cases of first-ever TIA were ascertained from January 1, 2011, until December 31, 2012, in a population-based prospective registry. All residents in the L'Aquila district with an incident TIA were included and followed up to 2 years after the event...
January 31, 2017: Stroke; a Journal of Cerebral Circulation
https://www.readbyqxmd.com/read/28137935/meal-timing-and-frequency-implications-for-cardiovascular-disease-prevention-a-scientific-statement-from-the-american-heart-association
#17
Marie-Pierre St-Onge, Jamy Ard, Monica L Baskin, Stephanie E Chiuve, Heather M Johnson, Penny Kris-Etherton, Krista Varady
Eating patterns are increasingly varied. Typical breakfast, lunch, and dinner meals are difficult to distinguish because skipping meals and snacking have become more prevalent. Such eating styles can have various effects on cardiometabolic health markers, namely obesity, lipid profile, insulin resistance, and blood pressure. In this statement, we review the cardiometabolic health effects of specific eating patterns: skipping breakfast, intermittent fasting, meal frequency (number of daily eating occasions), and timing of eating occasions...
January 30, 2017: Circulation
https://www.readbyqxmd.com/read/28130684/clinical-characteristics-and-laboratory-findings-of-252-chinese-patients-with-anti-phospholipid-syndrome-comparison-with-euro-phospholipid-cohort
#18
Hui Shi, Jia-Lin Teng, Yue Sun, Xin-Yao Wu, Qiong-Yi Hu, Hong-Lei Liu, Xiao-Bing Cheng, Yu-Feng Yin, Jun-Na Ye, Pojen P Chen, Cheng-de Yang
This study aims to characterize the Chinese Han patients with anti-phospholipid syndrome (APS) and compare the data with those of the Euro-Phospholipid cohort. We conducted a single center study consisting of 252 patients with definite APS from 2000 to 2015. We analyzed the clinical and laboratory characteristics of our cohort and compared the data with those of the Euro-Phospholipid cohort. Our cohort consisted of 216 females and 36 males, with a mean age at entry into this study of 41 years (range 11-74 years)...
January 27, 2017: Clinical Rheumatology
https://www.readbyqxmd.com/read/28130501/endovascular-flow-diversion-for-treatment-of-anterior-communicating-artery-region-cerebral-aneurysms-a-single-center-cohort-of-50-cases
#19
Geoffrey P Colby, Matthew T Bender, Li-Mei Lin, Narlin Beaty, Judy Huang, Rafael Tamargo, Alexander Coon
BACKGROUND: Flow diversion represents a novel but definitive treatment for recurrent and difficult-to-coil aneurysms of the anterior communicating artery (ACoA) region, of which reports are limited. OBJECTIVE: To determine the effectiveness of the Pipeline embolization device (PED) in treating aneurysms in the ACoA region. METHODS: We retrospectively reviewed an IRB-approved database of patients with an aneurysm at a single institution for patients with ACoA or A1-A2 aneurysms treated with PED...
January 27, 2017: Journal of Neurointerventional Surgery
https://www.readbyqxmd.com/read/28124399/comparative-effectiveness-of-recommended-versus-less-intensive-drug-combinations-in-secondary-prevention-of-acute-coronary-syndrome
#20
Julien Bezin, Rolf H H Groenwold, M Sanni Ali, Régis Lassalle, Philip Robinson, Anthonius de Boer, Nicholas Moore, Olaf H Klungel, Antoine Pariente
PURPOSE: The secondary prevention treatment for acute coronary syndrome (ACS) is based on the combined use of drugs from four therapeutic classes (beta-blockers, antiplatelet agents, statins, and angiotensin-converting enzyme inhibitors or angiotensin receptor blockers). The objective of this study was to compare the long-term effectiveness of the recommended therapeutic combination with those of incomplete combinations in secondary prevention of ACS. METHODS: This cohort study used data from a representative sample of the French national healthcare insurance system database...
January 26, 2017: Pharmacoepidemiology and Drug Safety
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