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https://www.readbyqxmd.com/read/28525397/an-unusual-case-of-sudden-death-is-there-a-relationship-between-thyroid-disorders-and-fatal-pulmonary-thromboembolism-a-case-report-and-review-of-literature
#1
Isabella Aquila, Silvia Boca, Fiorella Caputo, Matteo A Sacco, Santo Gratteri, Vittorio Fineschi, Pietrantonio Ricci
In adults, the most common cause of sudden death is coronary heart disease or defects in the cardiac conduction system; however, there are many cases of sudden death occurring from other causes such as fatal pulmonary thromboembolism. Several risk factors are recognized, including hospitalization, surgery, obesity, pregnancy, the use of oral contraceptives, traumatic fractures, and genetic conditions, which cause hypercoagulable states such as factor V Leiden mutations. Although many risk factors have been identified, the mortality rate is still high...
May 19, 2017: American Journal of Forensic Medicine and Pathology
https://www.readbyqxmd.com/read/28512209/venous-hypertensive-encephalopathy-secondary-to-venous-sinus-thrombosis-and-dural-arteriovenous-fistula
#2
Pria Anand, Emanuele Orru, Izlem Izbudak, Jiaying Zhang, Amir Kheradmand
A 52-year-old man with a history of factor V Leiden thrombophilia, persistent headaches and papilloedema presented with worsening vision and confusion. MRI and MR angiography of the brain at the time of this presentation showed findings concerning for transverse sinus thrombosis and an associated dural arteriovenous fistula. Dural venous sinus thrombosis can lead to the formation of a dural arteriovenous fistula, which must be considered in the differential diagnosis for intracranial hypertension in patients with thrombophilia...
May 16, 2017: Practical Neurology
https://www.readbyqxmd.com/read/28501666/an-unexpectedly-high-rate-of-thrombophilia-disorders-in-patients-with-superficial-vein-thrombosis-of-the-lower-extremities
#3
Marcone Lima Sobreira, Silvia Regina Rogatto, Rodrigo Mattos Dos Santos, Izolete Thomazini Santos, Iracema Carvalho Ferrari, Winston Bonetti Yoshida
BACKGROUND: Superficial vein thrombosis is a common venous condition. Recent studies have shown that SVT is associated with high frequency of thromboembolic complications: from 22 to 37 % for deep venous thrombosis and up to 33% for pulmonary embolism. OBJECTIVES: To assess the prevalence of major hereditary and acquired thrombophilic factors in patients with SVT. PATIENTS AND METHODS: 66 patients presenting with primary ST underwent evaluation for thrombophilia: molecular testing for the factor V Leiden and factor II G20210A (prothrombin) mutations, protein C, protein S, antithrombin deficiency, presence of lupus anticoagulant, as well as anti-cardiolipin antibody titers...
May 10, 2017: Annals of Vascular Surgery
https://www.readbyqxmd.com/read/28496539/efficacy-and-safety-of-direct-acting-oral-anticoagulants-use-in-acute-portal-vein-thrombosis-unrelated-to-cirrhosis
#4
Filipe Nery, Diana Valadares, Sara Morais, Manuel Teixeira Gomes, Andrea De Gottardi
In acute portal vein thrombosis (APVT) unrelated to cirrhosis, anticoagulant therapy is classically started with low molecular weight heparin or vitamin K antagonists. New direct-acting oral anticoagulants (DOACs) are used in the treatment of venous thrombosis outside the splanchnic vascular bed, but not in the latter. We report a young female with APVT occurring in a non-cirrhotic liver linked to heterozygosity of factor V-Leiden and prothrombin G20210A gene mutations. Rivaroxaban was started, with total recanalization of the left and partial recanalization of the right portal vein branches, without complications...
April 2017: Gastroenterology Research
https://www.readbyqxmd.com/read/28492776/tuberculosis-mortality-in-brazilian-capitals-2008-2010
#5
Roger Flores Ceccon, Rosana Maffacciolli, Andréia Burille, Stela Nazareth Meneghel, Dora Lúcia Leidens Correa de Oliveira, Tatiana Engel Gerhardt
OBJECTIVE: to analyze the association between tuberculosis mortality and socio-demographics and health indicators in the capitals of Brazilian states and the Federal District. METHODS: this is an ecological study whose outcome was the standardized coefficient of tuberculosis mortality in the 2008-2010 period; the independent variables comprised 16 indicators, grouped into three blocks; Pearson correlation test and multiple linear regression were applied for analysis...
April 2017: Epidemiologia e Servicos de Saude: Revista do Sistema Unico de Saude do Brasil
https://www.readbyqxmd.com/read/28483459/animal-models-of-atherosclerosis
#6
Besa Emini Veseli, Paola Perrotta, Gregory R A De Meyer, Lynn Roth, Carole Van der Donckt, Wim Martinet, Guido R Y De Meyer
An ideal animal model of atherosclerosis resembles human anatomy and pathophysiology and has the potential to be used in medical and pharmaceutical research to obtain results that can be extrapolated to human medicine. Moreover, it must be easy to acquire, can be maintained at a reasonable cost, is easy to handle and shares the topography of the lesions with humans. In general, animal models of atherosclerosis are based on accelerated plaque formation due to a cholesterol-rich/Western-type diet, manipulation of genes involved in the cholesterol metabolism, and the introduction of additional risk factors for atherosclerosis...
May 5, 2017: European Journal of Pharmacology
https://www.readbyqxmd.com/read/28480094/validation-of-leiden-score-in-predicting-progression-of-rheumatoid-arthritis-in-undifferentiated-arthritis-in-indian-population
#7
K Ghosh, A Chatterjee, S Ghosh, S Chakraborty, P Chattopadhyay, A Bhattacharya, M Pal
BACKGROUND: Leiden Score, is a very useful tool for predicting future development of rheumatoid arthritis (RA), among undifferentiated arthritis (UA) patients. This score has been validated in various western studies but rarely among south east Asian patients. AIMS: To validate the Leiden early arthritis prediction rule in an Indian cohort of patients for predicting rheumatoid arthritis (RA) in undifferentiated arthritis (UA) patients and to formulate any simpler version of prediction score taking only clinical variables of original Leiden prediction rule...
July 2016: Annals of Medical and Health Sciences Research
https://www.readbyqxmd.com/read/28478442/thrombogenesis-in-thrombophilic-pregnancy-evaluation-of-low-molecular-weight-heparin-prophylaxis
#8
Roberto Simeone, Roberta Giacomello, Germano Bruno, Sergio Parco, Natalia Maximova, Monica Martinelli, Gabriella Zito, Stefania Luppi, Gina Cervi, Giuseppe Ricci
The aim of this study is to investigate thrombogenesis and the hypercoagulable changes in pregnant women affected by thrombophilia who received low-molecular-weight heparin (LWMH) prophylaxis. We included 21 pregnant women affected by thrombophilia treated with LWMH and 20 nontreated normal pregnant women as the control group. The sample group of thrombophilic pregnant women included different conditions (factor V Leiden mutation, protein C deficiency, protein S deficiency, antiphospholipid antibodies syndrome, and combined defects)...
May 6, 2017: Acta Haematologica
https://www.readbyqxmd.com/read/28477701/clinical-outcomes-and-a-high-prevalence-of-abnormalities-on-comprehensive-arterial-and-venous-thrombophilia-screening-in-tia-or-ischaemic-stroke-patients-with-a-patent-foramen-ovale-an-inter-atrial-septal-aneurysm-or-both
#9
Soon Tjin Lim, Stephen J X Murphy, Deirdre R Smith, Jennifer Williams, Silvia Gil Navarro, John McCabe, David P Moore, Johnny McHugh, Dominick J H McCabe
INTRODUCTION: Data are limited on the optimal management of cryptogenic TIA/stroke patients with a patent foramen ovale (PFO)±inter-atrial septal aneurysm (IASA), especially with an inherited thrombophilia. METHODS: Prospectively-collected data on TIA/ischaemic stroke patients with PFO, IASA or both who received 'goal-directed secondary-prevention medical treatment' were analysed. All patients had trans-oesophageal echocardiography, anti-nuclear, anti-cardiolipin, anti-beta 2 glycoprotein I antibodies, rheumatoid factor, lupus anticoagulant, protein C&S, anti-thrombin, factor VIII activity, activated protein C resistance, Factor V Leiden, prothrombin gene and MTHFR-c...
June 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28474148/sildenafil-related-cerebral-venous-sinus-thrombosis-and-papilledema-a-case-report-of-a-rare-entity
#10
Dilek Top Karti, Omer Karti, Dilara Aktert, Figen Gokcay, Nese Celebisoy
We present a rare case of cerebral venous sinus thrombosis associated with long-term and high-dose use of sildenafil. A 29-year-old man was referred to our neuroophthalmology clinic for bilateral visual deterioration and severe headache. He had stage 2 papilledema and other clinical and neurological examinations were normal. He had used the drug for nearly 2 years, two to three times a day. All laboratory parameters including blood count cell, coagulation panels, and genetic tests including methylene-tetrahydrofolate reductase and factor V Leiden mutation were unremarkable...
May 4, 2017: Neurological Sciences
https://www.readbyqxmd.com/read/28472350/diagnostic-testing-approaches-for-activated-protein-c-resistance-and-factor-v-leiden-a-comparison-of-institutional-and-national-provider-practices
#11
Juliana Perez Botero, Julie A Majerus, Ann K Strege, Ryan D Johnson, Dong Chen, Rajiv K Pruthi
Objectives: To analyze the economic impact of testing for activated protein C resistance (APC-R) due to factor V Leiden (FVL) mutation with APC-R with reflexive FVL genotyping (algorithmic approach) or genotyping alone. Methods: OptumLabs Data Warehouse (OLDW) data were used to assess testing approaches. Insurance claims for APC-R and FVL in 2013 were compared with the Mayo Clinic database. Centers for Medicare & Medicaid Services diagnostic fee schedules were used to assign costs...
May 2, 2017: American Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28469935/evaluation-of-multiple-referral-strategies-for-axial-spondyloarthritis-in-the-spondyloarthritis-caught-early-space-cohort
#12
Ozair Abawi, Rosaline van den Berg, Désirée van der Heijde, Floris A van Gaalen
BACKGROUND: Several models have been proposed to refer patients with possible axial spondyloarthritis (axSpA) to a rheumatologist. Our aim was to evaluate performance of these models in a single cohort. METHODS: 13 referral models found in the literature were evaluated in the Leiden SPondyloArthritis Caught Early (SPACE) cohort, which includes patients with back pain (≥3 months, ≤2 years, onset <45 years; n=261) referred to a rheumatology outpatient clinic...
2017: RMD Open
https://www.readbyqxmd.com/read/28462798/no-associations-between-self-reported-knee-joint-instability-and-radiographic-features-in-knee-osteoarthritis-patients-prior-to-total-knee-arthroplasty-a-cross-sectional-analysis-of-the-longitudinal-leiden-orthopaedics-outcomes-of-osteo-arthritis-study-loas
#13
Claudia S Leichtenberg, Jorit J L Meesters, Herman M Kroon, Suzan H M Verdegaal, Claire Tilbury, Joost Dekker, Rob G H H Nelissen, Thea P M Vliet Vlieland, Martin van der Esch
BACKGROUND: To describe the prevalence of self-reported knee joint instability in patients with pre-surgery knee osteoarthritis (OA) and to explore the associations between self-reported knee joint instability and radiological features. METHODS: A cross-sectional study including patients scheduled for primary Total Knee Arthroplasty (TKA). Self-reported knee instability was examined by questionnaire. Radiological features consisted of osteophyte formation and joint space narrowing (JSN), both scored on a 0 to three scale...
April 24, 2017: Knee
https://www.readbyqxmd.com/read/28460018/evaluation-of-the-diagnostic-accuracy-of-hand-and-foot-mri-for-early-rheumatoid-arthritis
#14
Wouter P Nieuwenhuis, Hanna W van Steenbergen, Lukas Mangnus, Elize C Newsum, Johan L Bloem, Tom W J Huizinga, Saskia le Cessie, Monique Reijnierse, Annette H M van der Helm-van Mil
Objectives.: To assess the diagnostic value of MRI for early RA. In some RA patients, a classifiable diagnosis cannot be made at first presentation; these patients present with unclassified arthritis (UA). The use of MRI for early diagnosis of RA is recommended, yet the evidence for its reliability is limited. Methods.: MRI of hand and foot was performed in 589 early arthritis patients included in the Leiden Early Arthritis Clinic (229 presented with RA, 159 with other arthritides and 201 with UA)...
April 27, 2017: Rheumatology
https://www.readbyqxmd.com/read/28448663/prame-as-a-potential-target-for-immunotherapy-in-metastatic-uveal-melanoma
#15
Gülçin Gezgin, Sietse J Luk, Jinfeng Cao, Mehmet Dogrusöz, Dirk M van der Steen, Renate S Hagedoorn, Daniëlle Krijgsman, Pieter A van der Velden, Matthew G Field, Gregorius P M Luyten, Karoly Szuhai, J William Harbour, Ekaterina S Jordanova, Mirjam H M Heemskerk, Martine J Jager
Importance: Uveal melanoma (UM) is an intraocular primary malignant neoplasm that often gives rise to metastatic disease for which there are no effective therapies. A substantial proportion of UMs express the cancer-testis antigen PRAME (preferentially expressed antigen in melanoma), which can potentially be targeted by adoptive T-cell therapy. Objective: To determine whether there may be a rationale for PRAME-directed T-cell therapy for metastatic UM. Design, Setting, and Participants: An experimental study using a retrospective cohort of 64 patients with UM (median follow-up, 62 months) was conducted from January 8, 2015, to November 20, 2016, at the Leiden University Medical Center...
April 27, 2017: JAMA Ophthalmology
https://www.readbyqxmd.com/read/28440906/familial-longevity-is-characterized-by-high-circadian-rhythmicity-of-serum-cholesterol-in-healthy-elderly-individuals
#16
Rosa van den Berg, Raymond Noordam, Sander Kooijman, Steffy W M Jansen, Abimbola A Akintola, P Eline Slagboom, Hanno Pijl, Patrick C N Rensen, Nienke R Biermasz, Diana van Heemst
The biological clock, whose function deteriorates with increasing age, determines bodily circadian (i.e. 24h) rhythms, including that of cholesterol metabolism. Dampening of circadian rhythms has been associated with aging and disease. Therefore, we hypothesized that individuals with a familial predisposition for longevity have a higher amplitude circadian serum cholesterol concentration rhythm. The aim of this study was to investigate circadian rhythmicity of serum cholesterol concentrations in offspring of nonagenarian siblings and their partners...
April 2017: Aging Cell
https://www.readbyqxmd.com/read/28432734/monogenic-diabetes-syndromes-locus-specific-databases-for-alstr%C3%A3-m-wolfram-and-thiamine-responsive-megaloblastic-anaemia
#17
Dewi Astuti, Ataf Sabir, Piers Fulton, Malgorzata Zatyka, Denise Williams, Carol Hardy, Gabriella Milan, Francesca Favaretto, Patrick Yu-Wai-Man, Julia Rohayem, Miguel López de Heredia, Tamara Hershey, Lisbeth Tranebjaerg, Jian-Hua Chen, Annabel Chaussenot, Virginia Nunes, Bess Marshall, Susan McAfferty, Vallo Tillmann, Pietro Maffei, Veronique Paquis-Flucklinger, Tarekign Geberhiwot, Wojciech Mlynarski, Kay Parkinson, Virginie Picard, Gema Esteban Bueno, Renuka Dias, Amy Arnold, Caitlin Richens, Richard Paisey, Fumi Urano, Robert Semple, Richard Sinnott, Timothy G Barrett
We developed a variant database for diabetes syndrome genes, using the Leiden Open Variation Database platform, containing observed phenotypes matched to the genetic variations. We populated it with 628 published disease associated variants (December 2016) for: WFS1 (n = 309), CISD2 (n = 3), ALMS1 (n = 268), and SLC19A2 (n = 48) for Wolfram type 1, Wolfram type 2, Alström and Thiamine-responsive megaloblastic anaemia syndromes respectively; and included 23 previously unpublished novel germline variants in WFS1 and 17 variants in ALMS1...
April 21, 2017: Human Mutation
https://www.readbyqxmd.com/read/28422089/thermogenic-adipocytes-promote-hdl-turnover-and-reverse-cholesterol-transport
#18
Alexander Bartelt, Clara John, Nicola Schaltenberg, Jimmy F P Berbée, Anna Worthmann, M Lisa Cherradi, Christian Schlein, Julia Piepenburg, Mariëtte R Boon, Franz Rinninger, Markus Heine, Klaus Toedter, Andreas Niemeier, Stefan K Nilsson, Markus Fischer, Sander L Wijers, Wouter van Marken Lichtenbelt, Ludger Scheja, Patrick C N Rensen, Joerg Heeren
Brown and beige adipocytes combust nutrients for thermogenesis and through their metabolic activity decrease pro-atherogenic remnant lipoproteins in hyperlipidemic mice. However, whether the activation of thermogenic adipocytes affects the metabolism and anti-atherogenic properties of high-density lipoproteins (HDL) is unknown. Here, we report a reduction in atherosclerosis in response to pharmacological stimulation of thermogenesis linked to increased HDL levels in APOE*3-Leiden.CETP mice. Both cold-induced and pharmacological thermogenic activation enhances HDL remodelling, which is associated with specific lipidomic changes in mouse and human HDL...
April 19, 2017: Nature Communications
https://www.readbyqxmd.com/read/28420059/neuropsychiatric-symptoms-in-systemic-lupus-erythematosus-impact-on-quality-of-life
#19
R C Monahan, L J J Beaart-van de Voorde, G M Steup-Beekman, C Magro-Checa, T W J Huizinga, J Hoekman, A A Kaptein
Objective Assess quality of life in patients with systemic lupus erythematosus (SLE) presenting with neuropsychiatric symptoms (neuropsychiatric SLE, NPSLE). Methods Quality of life was assessed using the Short-Form 36 item Health Survey (SF-36) in patients visiting the Leiden NPSLE clinic at baseline and at follow-up. SF-36 subscales and summary scores were calculated and compared with quality of life of the general Dutch population and patients with other chronic diseases. Results At baseline, quality of life was assessed in 248 SLE patients, of whom 98 had NPSLE (39...
January 1, 2017: Lupus
https://www.readbyqxmd.com/read/28411702/outcomes-of-iliac-vein-stents-after-pregnancy
#20
Mohini Dasari, Efthimios Avgerinos, Seshadri Raju, Robert Tahara, Rabih A Chaer
OBJECTIVE: Stenting is the first-line treatment for obstructive iliocaval lesions when intervention is required. The aim of the study was to evaluate iliocaval stent patency during and after pregnancy in women of reproductive age who became pregnant after stent placement. METHODS: Female patients of reproductive age (18-45 years old) who underwent iliocaval stenting between May 2007 and March 2014 were identified from a three-center prospectively maintained database...
May 2017: Journal of Vascular Surgery. Venous and Lymphatic Disorders
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