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https://www.readbyqxmd.com/read/28804824/laboratory-testing-for-activated-protein-c-resistance-apcr
#1
Soma Mohammed, Emmanuel J Favaloro
Activated protein C resistance (APCR) describes a hemostatic disorder characterized by a poor anticoagulant response to activated protein C (APC). This results in an increased risk of venous thrombosis, including deep vein thrombosis and pulmonary embolism. Protein C is a natural anticoagulant that is synthesized in the liver and is activated to APC via proteolysis. APC then degrades Factors Va and VIIIa. APCR describes the reduced inability of APC to cleave Factors Va and VIIIa, which therefore promotes increased thrombin generation and potentially leads to a prothrombotic state...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28804823/an-overview-of-thrombophilia-and-associated-laboratory-testing
#2
Martina Montagnana, Giuseppe Lippi, Elisa Danese
Venous thromboembolism, usually entailing deep vein thrombosis, pulmonary embolism, or both, is a complex and multifactorial disorder, in which a number of putative conditions interplay and finally contribute to propel the individual risk over a certain degree, so ultimately culminating in the development of venous occlusive disorders. Thrombophilia is commonly defined as a propensity to develop venous thromboembolism on the basis of an underlying hypercoagulable state attributable to inherited or acquired disorders of blood coagulation or fibrinolysis...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28801724/pneumococcal-meningitis-and-endocarditis-in-an-infant-possible-improved-survival-with-factor-v-leiden-mutation
#3
Sitikant Mohapatra, Assaf Doulah, Elspeth Brown
Streptococcus pneumoniae infections continue to remain associated with high morbidity and mortality. Although the incidence of invasive meningeal and/or lung disease are not uncommon, Streptococcus pneumoniae endocarditis is rare especially in healthy pediatric population. New studies have suggested a strong association between factor V leiden (FVL) mutation and favorable outcomes in critically ill children. A healthy 10 month old presented with sepsis and meningeal signs, was later confirmed to have Streptococcus pneumoniae meningitis and endocarditis...
August 12, 2017: European Journal of Pediatrics
https://www.readbyqxmd.com/read/28796604/dual-temporal-and-spatial-sparse-representation-for-inferring-group-wise-brain-networks-from-resting-state-fmri-dataset
#4
Junhui Gong, Xiaoyan Liu, Tianming Liu, Jiansong Zhou, Gang Sun, Juanxiu Tian
Recently, sparse representation has been successfully used to identify brain networks from task-based fMRI dataset. However, when using the strategy to analyze resting-state fMRI dataset, it is still a challenge to automatically infer the group-wise brain networks under consideration of group commonalities and subject-specific characteristics. In the paper, a novel method based on dual temporal and spatial sparse representation (DTSSR) is proposed to meet this challenge. Firstly, the brain functional networks with subject-specific characteristics are obtained via sparse representation with online dictionary learning for the fMRI time series (temporal domain) of each subject...
August 9, 2017: IEEE Transactions on Bio-medical Engineering
https://www.readbyqxmd.com/read/28796374/emil-alfred-loeliger-z%C3%A3-rich-28-june-1924-leiden-29-may-2017
#5
(no author information available yet)
No abstract text is available yet for this article.
August 10, 2017: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/28795204/-entitlement-to-prophylactic-treatment-in-cases-of-genetic-predisposition-for-breast-cancer-interdisciplinary-perspectives
#6
REVIEW
Friedhelm Meier, Jens Ried, Anke Harney, Kerstin Rhiem, Silke Neusser, Anja Neumann, Jürgen Wasem, Rita Schmutzler, Stefan Huster, Peter Dabrock
Genetic tests can detect the predisposition to various diseases. The demand for gene diagnostics and corresponding prophylactic measures is increasing steadily. In the German healthcare system, however, legal uncertainties exist as to whether a mere risk of disease is reason enough to bear the costs for prophylactic measures. When medically effective prophylactic measures are available in certain cancer diseases, such as in hereditary breast cancer, the current practice of deciding in individual cases appears to be insufficient...
August 9, 2017: Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz
https://www.readbyqxmd.com/read/28792912/adverse-pregnancy-outcomes-and-inherited-thrombophilia
#7
Dominik Dłuski, Radzisław Mierzyński, Elżbieta Poniedziałek-Czajkowska, Bożena Leszczyńska-Gorzelak
AIM: (1) To evaluate the prevalence of inherited thrombophilia in pregnant women with adverse pregnancy outcomes: intrauterine growth retardation (IUGR), preeclampsia (PE) and placental abruption. (2) To assess the impact of inherited thrombophilia on the nature of obstetric complications. (3) To assess levels of protein S, protein C, antithrombin III and homocysteine in pregnant women with adverse pregnancy outcomes. SUBJECTS AND METHODS: The study comprised 162 pregnant women...
August 9, 2017: Journal of Perinatal Medicine
https://www.readbyqxmd.com/read/28781853/unexpected-papilledema-in-a-young-male-with-type-1-diabetes
#8
Juan A Paniagua, Rodrigo Bahamondes, Antonio Cano-Sánchez, Francisco Velasco
In young patients with T1D, neurological manifestations of cerebral hypertension should suggest the possibility of a cerebral venous sinus thrombosis (CVST). In these patients an inherited prothrombotic risk factor, including factor V Leiden G1691A gene mutation, should be considered during an event of thrombosis. Improving the glycemic control is the first factor that should be controlled in a patient who carries a genetic prothrombotic risk factor. Anticoagulant treatment should be started as son as CVST has been diagnosed...
August 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/28772363/quantification-of-the-service-life-extension-and-environmental-benefit-of-chloride-exposed-self-healing-concrete
#9
Bjorn Van Belleghem, Philip Van den Heede, Kim Van Tittelboom, Nele De Belie
Formation of cracks impairs the durability of concrete elements. Corrosion inducing substances, such as chlorides, can enter the matrix through these cracks and cause steel reinforcement corrosion and concrete degradation. Self-repair of concrete cracks is an innovative technique which has been studied extensively during the past decade and which may help to increase the sustainability of concrete. However, the experiments conducted until now did not allow for an assessment of the service life extension possible with self-healing concrete in comparison with traditional (cracked) concrete...
December 23, 2016: Materials
https://www.readbyqxmd.com/read/28760659/no-causal-association-between-25-hydroxyvitamin-d-and-features-of-skin-aging-evidence-from-a-bidirectional-mendelian-randomization-study
#10
Raymond Noordam, Merel A Hamer, Luba M Pardo, Tamara van der Nat, Jessica C Kiefte-de Jong, Manfred Kayser, P Eline Slagboom, André Uitterlinden, M Carola Zillikens, Marian Beekman, Tamar Nijsten, Diana van Heemst, David A Gunn
Data from in-vitro experiments suggest vitamin D reduces the rate of skin aging whereas population studies suggest the opposite, most likely due to confounding by UV-exposure. We investigated whether there are causal associations between 25-hydroxyvitamin D concentrations and features of skin aging in a bidirectional Mendelian Randomization Study. In the Rotterdam Study (N=3,831; 58.2% women, median age 66.5 years) and Leiden Longevity Study (N=661; 50.5% women, median age 63.1 years), facial skin aging features (perceived age, wrinkling, pigmented spots) were assessed either manually or digitally...
July 28, 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/28759270/associations-between-chronotypes-and-psychological-vulnerability-factors-of-depression
#11
Niki Antypa, Bart Verkuil, Marc Molendijk, Robert Schoevers, Brenda W J H Penninx, Willem Van Der Does
Chronotypes have been associated with psychopathology. The eveningness chronotype has been consistently linked with depressed states or depressive disorder, but the underlying mechanism remains unclear. Prior studies have shown associations between chronotype and personality traits that are linked to depression (e.g. neuroticism), but other psychological vulnerability factors have not been previously investigated in relation to chronotypes. The aim of this study was to examine the association between chronotypes, depression and psychological risk factors of depression (namely, cognitive reactivity and worry), in a large cohort of depressed patients and healthy individuals...
July 31, 2017: Chronobiology International
https://www.readbyqxmd.com/read/28757499/experimental-clinical-medicine-and-drug-action-in-mid-seventeenth-century-leiden
#12
Evan R Ragland
Leiden University boasted one of the most popular and influential medical schools of the mid-seventeenth century, drawing hundreds of students from across Europe. These students participated in the revival of frequent clinical instruction, anatomical and chymical experiments, and even tests of supposed disease-causing substances and remedies on living animals and humans. Comparing records of cases from the hospital clinic with the professors' treatises and student-authored disputations shows that old and new theories of disease and drug action were hotly contested and often tested, including the claims of the leading professors at the school...
2017: Bulletin of the History of Medicine
https://www.readbyqxmd.com/read/28753064/one-year-outcomes-of-early-crossover-patients-in-a-cohort-receiving-nonoperative-care-for-lumbar-disc-herniation
#13
Anurekha Ramakrishnan, K Michael Webb, Matthew C Cowperthwaite
OBJECTIVE The authors comprehensively studied the recovery course and 1-year outcomes of early-crossover patients who were randomized to the nonoperative care arm of the Leiden-The Hague Spine Intervention Prognostic Study. The primary goal was to gain insight into the differences in the recovery patterns of early-crossover patients and those treated nonoperatively; secondary goals were to identify predictors of good 1-year outcomes, and to understand when and why patients were likely to cross over. METHODS Individual EuroQol-5D scores were obtained at baseline and at 2, 4, 8, 12, 26, 38, and 52 weeks for 142 patients...
July 28, 2017: Journal of Neurosurgery. Spine
https://www.readbyqxmd.com/read/28750087/risk-prediction-of-developing-venous-thrombosis-in-combined-oral-contraceptive-users
#14
Aaron McDaid, Emmanuelle Logette, Valérie Buchillier, Maude Muriset, Pierre Suchon, Thierry Daniel Pache, Goranka Tanackovic, Zoltán Kutalik, Joëlle Michaud
BACKGROUND: Venous thromboembolism (VTE) is a complex multifactorial disease influenced by genetic and environmental risk factors. An example for the latter is the regular use of combined oral contraceptives (CC), which increases the risk to develop VTE by 3 to 7 fold, depending on estrogen dosage and the type of progestin present in the pill. One out of 1'000 women using CC develops thrombosis, often with life-long consequences; a risk assessment is therefore necessary prior to such treatment...
2017: PloS One
https://www.readbyqxmd.com/read/28740966/portal-vein-thrombosis-as-a-rare-cause-of-abdominal-pain-when-to-consider
#15
Cengiz Tavusbay, Erdinç Kamer, Turan Acar, İbrahim Kokulu, Haldun Kar, Özlem Gür
Extrahepatic portal vein thrombosis (PVT) is a rare condition that is characterized by the presence of thrombus within any segment of the portal vein, including the right and left intrahepatic branches. It may also extend to the splenic or superior mesenteric veins. Portal vein thrombosis may be related to cirrhosis or liver malignancy as well as to local inflammatory conditions in the abdomen and genetic or acquired thrombophilic diseases. Currently, PVT is being increasingly diagnosed due to advances in modern imaging techniques...
2017: Turk J Surg
https://www.readbyqxmd.com/read/28737269/concordance-between-self-reported-and-observer-rated-anxiety-severity-in-outpatients-with-anxiety-disorders-the-leiden-routine-outcome-monitoring-study
#16
Anke Schat, Martijn S van Noorden, Erik J Giltay, Marc J Noom, Robert R J M Vermeiren, Frans G Zitman
OBJECTIVES: Anxiety severity measures can be self-report or observer-rated. Although mostly these measures concur, they can diverge markedly. We examined concordance between two anxiety scales: the observer-rated Brief Anxiety Scale (BAS) and the self-report Brief Symptom Inventory 12-item version (BSI-12), and described associations between patient characteristics and discordance. DESIGN: The study used an observational design, using prospective data from 2,007 outpatients with DSM-IV-TR panic disorder with or without agoraphobia, agoraphobia without panic, social phobia, and/or generalized anxiety disorder...
July 24, 2017: Psychology and Psychotherapy
https://www.readbyqxmd.com/read/28720694/myocardial-infarction-masquerading-as-myocarditis-in-a-patient-with-factor-v-leiden-unmasked-with-mr
#17
Jason Leo Walsh, Benjamin Howell Lole Harris, Walid Gharzuddine, Hussain Isma'eel
We present a case of a 21-year-old man presenting with sharp left-sided chest pain. A CT pulmonary angiogram was negative, ECG was unremarkable and a mild troponin rise was observed. Myocarditis was suspected as the most likely diagnosis, particularly in view of the patient's previous diagnosis of myocarditis 3 years prior. A cardiac MRI was indicative of an acute mid-anterior myocardial infarction (MI) and an old inferior MI with an associated aneurysm. A subsequent angiogram revealed a subtotal occlusion in the second diagonal artery, likely precipitated by homozygous factor V Leiden...
July 18, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28720425/toward-best-practices-for-surgical-morbidity-and-mortality-conferences-a-mixed-methods-study
#18
Marit S de Vos, Perla J Marang-van de Mheen, Ann D Smith, Danny Mou, Edward E Whang, Jaap F Hamming
OBJECTIVE: To assess formats for surgical morbidity and mortality conferences (M&M) for strengths and challenges. DESIGN: A mixed methods approach with local observations to assess key domains of M&M practice (i.e., goals, structure, and process/content) and surveys to assess participants' expectations and experiences. SETTING: Surgical departments of two teaching hospitals (Boston, USA and Leiden, Netherlands). PARTICIPANTS: Participants of surgical M&M, including attending surgeons, residents, physician assistants, and medical students (total n = 135)...
July 15, 2017: Journal of Surgical Education
https://www.readbyqxmd.com/read/28717431/polymorphisms-at-activated-protein-c-cleavage-sites-of-factor-v-are-they-important-in-the-absence-of-factor-v-leiden
#19
Ehsan Kheradmand, Shaghayegh Haghjooy-Javanmard, Leila Dehghani, Mohammad Saadatnia
Background: Activated protein C (APC) inactivates factor V (FV) by cleavage of its heavy chain at Arg306, Arg506, Arg679, and Lys994. Mutational changes, which abolish APC cleavage sites, may predispose thrombosis by altering the inactivation process of FV. FV Leiden (FVL) (Arg506Glu) has been demonstrated as a strong risk factor for thrombosis. In the current study, we have studied whether mutations in the cleavage sites of FV for APC, not due to FVL, would have a role in presenting APC resistance (APCR) and initiation of a cerebral thrombotic event...
January 5, 2017: Iranian Journal of Neurology
https://www.readbyqxmd.com/read/28711293/a-genetic-study-of-factor-v-leiden-g1691a-mutation-in-young-ischemic-strokes-with-large-vessel-disease-in-a-south-indian-population
#20
Ravi Anadure, Rita Christopher, Dindagur Nagaraja, Coimbatore Narayanan
Factor V Leiden (FVL) has been, by far, the most investigated gene mutation, with 26 studies to date, on its role in arterial strokes. Overall, a meta-analysis of all these studies taken together showed that carriers of the Factor V Leiden allele were 1.33times more likely to develop arterial strokes when compared to controls. We subjected a highly select subset of young strokes, with large vessel infarcts, to genetic analysis for FVL mutation and compared them with matched healthy controls to look for a statistically significant association...
July 12, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
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