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https://www.readbyqxmd.com/read/29773783/cholesteryl-ester-storage-disease-fatal-outcome-without-causal-therapy-in-a-female-patient-with-the-preventable-sequelae-of-progressive-liver-disease-after-many-years-of-mild-symptoms
#1
Ali Canbay, Meike N Müller, Stathis Philippou, Guido Gerken, Andreas Tromm
BACKGROUND Cholesteryl ester storage disease (CESD), also known as lysosomal acid lipase deficiency (LAL-D), is a rare autosomal-recessive inheritable lysosomal storage disease. Since 2015, a causal treatment with sebelipase alfa, which replaces the missing LAL enzyme, has been approved. We report a fatal course of LAL-D in a female patient. CASE REPORT In 1979, CESD was first diagnosed in a 13-year-old female with marked hepatomegaly. At that time, no specific treatment for CESD was available and the spontaneous course of the disease had to be awaited...
May 18, 2018: American Journal of Case Reports
https://www.readbyqxmd.com/read/29758336/grand-rounds-hepatic-manifestations-of-telomere-biology-disorders
#2
REVIEW
Mrinal M Patnaik, Patrick S Kamath, Douglas A Simonetto
Clinical Case A 51 year old Caucasian male was referred for evaluation of variceal bleeding. Laboratory tests were remarkable for mild thrombocytopenia and moderate alkaline phosphatase elevation. Synthetic liver function was well preserved. Abdominal computed tomography scan revealed moderate splenomegaly, gastric varices, and normal hepatic contour. A transjugular liver biopsy was performed revealing findings of nodular regenerative hyperplasia (NRH) with no significant fibrosis or necroinflammatory activity...
May 11, 2018: Journal of Hepatology
https://www.readbyqxmd.com/read/29719929/the-effect-of-parity-on-risk-of-complications-in-women-with-epilepsy-a-population-based-cohort-study
#3
Kim C Danielsson, Ingrid Borthen, Nils Erik Gilhus, Nils-Halvdan Morken
INTRODUCTION: Women with epilepsy have increased risk of complications in pregnancy with consequences for the mother and child. There are no studies on the influence of parity on complications in women with epilepsy. MATERIAL AND METHODS: This was a population-based cohort study of all first and second births in the Medical Birth Registry of Norway 1999-2013. Risks were estimated, and complication rates compared in distinct women with epilepsy treatment categories...
May 2, 2018: Acta Obstetricia et Gynecologica Scandinavica
https://www.readbyqxmd.com/read/29667460/clinical-utility-of-remote-platelet-function-measurement-using-p-selectin-assessment-of-aspirin-clopidogrel-and-prasugrel-and-bleeding-disorders
#4
Philip M Bath, Jane May, Stan Heptinstall
Vascular diseases such as myocardial infarction and ischemic stroke are associated with increased platelet function whilst the risk of recurrence is reduced by antiplatelet agents such as aspirin, clopidogrel, and prasugrel. However, some patients exhibit high platelet reactivity, especially with clopidogrel. Existing platelet function tests may not be ideal in that they can be expensive, are often time consuming, and measurements must be made near to the patient and within a few hours of blood collection. Platelet activation leads to translocation of P-selectin from alpha-granules to the cell surface...
April 18, 2018: Platelets
https://www.readbyqxmd.com/read/29652675/an-intronic-mutation-c-6430-3c-g-in-the-f8-gene-causes-splicing-efficiency-and-premature-termination-in-hemophilia-a
#5
Zunjing Xia, Jie Lin, Lingping Lu, Chol Kim, Ping Yu, Ming Qi
: Hemophilia A is a bleeding disorder caused by coagulation factor VIII protein deficiency or dysfunction, which is classified into severe, moderate, and mild according to factor clotting activity. An overwhelming majority of missense and nonsense mutations occur in exons of F8 gene, whereas mutations in introns can also be pathogenic. This study aimed to investigate the effect of an intronic mutation, c.6430-3C>G (IVS22-3C>G), on pre-mRNA splicing of the F8 gene. We applied DNA and cDNA sequencing in a Chinese boy with hemophilia A to search if any pathogenic mutation in the F8 gene...
April 12, 2018: Blood Coagulation & Fibrinolysis: An International Journal in Haemostasis and Thrombosis
https://www.readbyqxmd.com/read/29625464/safety-studies-for-a-44-channel-suprachoroidal-retinal-prosthesis-a-chronic-passive-study
#6
Carla J Abbott, David A X Nayagam, Chi D Luu, Stephanie B Epp, Richard A Williams, Cesar M Salinas-LaRosa, Joel Villalobos, Ceara McGowan, Mohit N Shivdasani, Owen Burns, Jason Leavens, Jonathan Yeoh, Alice A Brandli, Patrick C Thien, Jenny Zhou, Helen Feng, Chris E Williams, Robert K Shepherd, Penelope J Allen
Purpose: Following successful clinical outcomes of the prototype suprachoroidal retinal prosthesis, Bionic Vision Australia has developed an upgraded 44-channel suprachoroidal retinal prosthesis to provide a wider field of view and more phosphenes. The aim was to evaluate the preclinical passive safety characteristics of the upgraded electrode array. Methods: Ten normal-sighted felines were unilaterally implanted with an array containing platinum electrodes (44 stimulating and 2 returns) on a silicone carrier near the area centralis...
March 1, 2018: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/29610166/b-6-and-bleeding-a-case-report-of-a-novel-vitamin-toxicity
#7
Alexandra J Borst, Dmitry Tchapyjnikov
Pyridox(am)ine-5-phosphate oxidase deficiency is an inborn error of vitamin B6 metabolism that is characterized by neonatal seizures, requiring lifelong therapy with pyridoxal-5-phosphate. We present the first case of a patient with pyridox(am)ine-5-phosphate oxidase deficiency and mild hemophilia A, whose bleeding symptoms were exacerbated by the vitamin B6 therapy essential for his epileptic disorder. This report expands the spectrum of known vitamin B6 toxicity and demonstrates a need for vigilance in monitoring for bleeding symptoms in patients requiring pyridoxine or pyridoxal-5-phosphate supplementation...
April 2018: Pediatrics
https://www.readbyqxmd.com/read/29589486/advances-in-chemical-pharmacotherapy-for-the-treatment-of-pediatric-immune-thrombocytopenia
#8
Thomas Kühne
Immune thrombocytopenia (ITP) is an autoimmune bleeding disorder of heterogeneous pathophysiological mechanisms. Treatment endpoints include elevation of platelets and reduction of bleeding risk, elevation of quality of life, reduction of concomitant therapies and prevention from bleeding. Persistent and chronic ITP is more common in adults but occurs in children. Standard therapies include corticosteroids and immunoglobulins, both associated with side effects. There are new treatments, such as thrombopoietin-receptor agonists and promising investigational drugs...
May 2018: Expert Opinion on Pharmacotherapy
https://www.readbyqxmd.com/read/29573771/radiofrequency-for-treatment-of-refractory-epistaxis-in-hereditary-hemorrhagic-telangiectasia
#9
Mariana Donato, João Pimentel, Rui Cabral, Pedro Escada
Hereditary hemorrhagic telangiectasia is a rare multi-systemic autosomal dominant disorder characterized by dysplasia of the vascular connective tissue and recurrent bleeding tendency. Epistaxis is the most common and earliest symptom. It is usually mild to moderate, however, in some patients it can be severe with significant interference in quality of life. We report a case of a patient with hereditary hemorrhagic telangiectasia, in which an episode of refractory epistaxis was treated with radiofrequency and fibrin sealant...
January 31, 2018: Acta Médica Portuguesa
https://www.readbyqxmd.com/read/29565839/bleeding-and-blood-disorders-in-clients-of-voluntary-medical-male-circumcision-for-hiv-prevention-eastern-and-southern-africa-2015-2016
#10
Lawrence E Hinkle, Carlos Toledo, Jonathan M Grund, Vanessa R Byams, Naomi Bock, Renee Ridzon, Caroline Cooney, Emmanuel Njeuhmeli, Anne G Thomas, Jacob Odhiambo, Elijah Odoyo-June, Norah Talam, Faustin Matchere, Wezi Msungama, Rose Nyirenda, James Odek, Jotamo Come, Marcos Canda, Stanley Wei, Alfred Bere, Collen Bonnecwe, Isaac Ang'Ang'A Choge, Enilda Martin, Dayanund Loykissoonlal, Gissenge J I Lija, Erick Mlanga, Daimon Simbeye, Stella Alamo, Geoffrey Kabuye, Joseph Lubwama, Nafuna Wamai, Omega Chituwo, George Sinyangwe, James Exnobert Zulu, Charles A Ajayi, Shirish Balachandra, John Mandisarisa, Sinokuthemba Xaba, Stephanie M Davis
Male circumcision reduces the risk for female-to-male human immunodeficiency virus (HIV) transmission by approximately 60% (1) and has become a key component of global HIV prevention programs in countries in Eastern and Southern Africa where HIV prevalence is high and circumcision coverage is low. Through September 2017, the President's Emergency Plan for AIDS Relief (PEPFAR) had supported 15.2 million voluntary medical male circumcisions (VMMCs) in 14 priority countries in Eastern and Southern Africa (2). Like any surgical intervention, VMMC carries a risk for complications or adverse events...
March 23, 2018: MMWR. Morbidity and Mortality Weekly Report
https://www.readbyqxmd.com/read/29545231/use-of-a-high-purity-factor-x-concentrate-in-turkish-subjects-with-hereditary-factor-x-deficiency-post-hoc-cohort-subanalysis-of-a-phase-3-study
#11
Ahmet F Oner, Tiraje Celkan, Çetin Timur, Miranda Norton, Kaan Kavaklı
Hereditary factor X (FX) deficiency is a rare bleeding disorder more prevalent in countries with high rates of consanguineous marriage. In a prospective, open-label, multicentre, phase 3 study, 25 IU/kg pdFX was administered as on-demand treatment or short-term prophylaxis for 6 months-2 years. In Turkish subjects (N=6), 60.7% of bleeds were minor. A mean of 1.03 infusions was used to treat each bleed, and mean total dose per bleed was 25.38 IU/kg. Turkish subjects ratedpdFX efficacy as excellent or good for all 84 assessable bleeds; investigators judged overall pdFX efficacy to be excellent or good in all subjects...
March 16, 2018: Turkish Journal of Haematology: Official Journal of Turkish Society of Haematology
https://www.readbyqxmd.com/read/29510717/restrictive-versus-massive-fluid-resuscitation-strategy-refill-study-influence-on-blood-loss-and-hemostatic-parameters-in-obstetric-hemorrhage-study-protocol-for-a-randomized-controlled-trial
#12
Natascha de Lange, Pim Schol, Marcus Lancé, Mallory Woiski, Josje Langenveld, Robbert Rijnders, Luc Smits, Martine Wassen, Yvonne Henskens, Hubertina Scheepers
BACKGROUND: Postpartum hemorrhage (PPH) is associated with maternal morbidity and mortality and has an increasing incidence in high-resource countries, despite dissemination of guidelines, introduction of skills training, and correction for risk factors. Current guidelines advise the administration, as fluid resuscitation, of almost twice the amount of blood lost. This advice is not evidence-based and could potentially harm patients. METHODS: All women attending the outpatient clinic who are eligible will be informed of the study; oral and written informed consent will be obtained...
March 6, 2018: Trials
https://www.readbyqxmd.com/read/29402705/treatment-tailoring-for-factor-v-deficient-patients-and-perioperative-management-using-global-hemostatic-coagulation-assays
#13
Sarina Levy-Mendelovich, Assaf Arie Barg, Nurit Rosenberg, Einat Avishai, Jacob Luboshitz, Mudi Misgav, Gili Kenet, Tami Livnat
INTRODUCTION: Congenital factor V deficiency (FVD) is a rare bleeding disorder with an estimated incidence of 1 in 1000,000 in the general population. Since the common coagulation tests do not correlate with the bleeding tendency there is an unmet need to predict FVD patients' bleeding hazard prior to surgical interventions. AIM: To optimize treatment prior to surgical interventions, using global coagulation assays, thrombin generation (TG) and rotating thromboelastogram (ROTEM)...
February 2, 2018: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/29388750/high-proportion-of-patients-with-bleeding-of-unknown-cause-in-persons-with-a-mild-to-moderate-bleeding-tendency-results-from-the-vienna-bleeding-biobank-vibb
#14
J Gebhart, S Hofer, S Panzer, P Quehenberger, R Sunder-Plassmann, G Hoermann, E Eigenbauer, H Haslacher, S Kepa, P A Kyrle, S Eichinger, P Knöbl, L Eischer, C Mannhalter, C Ay, I Pabinger
INTRODUCTION: Data on clinical characteristics and the prevalence of underlying coagulopathies in patients with mild-to-moderate bleeding disorders (MBDs) are scarce. AIM: We established the Vienna Bleeding Biobank (VIBB) to characterize and thoroughly investigate Austrian patients with MBDs. RESULTS: Four hundred eighteen patients (female = 345, 82.5%) were included. A platelet function defect (PFD) was diagnosed in 26 (6.2%) and a possible PFD in 30 (7...
February 1, 2018: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/29369083/influence-of-abo-blood-group-on-von-willebrand-factor-tests-in-healthy-saudi-blood-donors
#15
Abdullah Alharbi, Salwa Bakr Hassan, Abdul-Kareem Al-Momen, Khalid Al-Saleh, Rasheed Nasr, Haitham Kohgear, Tarek Owaidah
: Von Willebrand disease is a common bleeding disorder. The wide variation in von Willebrand factor (VWF) levels between and within normal individuals highlights the clinical challenge of defining its cutoff value. Although studies on the influence of ethnicity on ABO phenotypes and the levels of VWF have been carried out on different ethnicities, there is a lack of such data among Arab population. We aimed to evaluate the correlation of ABO phenotypes with all the parameters of the minimal test panel of VWF including VWF antigen, VWF activity using the ristocetin cofactor and the collagen binding activity assays, and factor VIII coagulant activity (VWF:Ag, VWF:RCo, VWF:CB and FVIII:C) tested in a normal Arab population, and to estimate ABO-specific normal reference range...
March 2018: Blood Coagulation & Fibrinolysis: An International Journal in Haemostasis and Thrombosis
https://www.readbyqxmd.com/read/29337406/validation-of-flow-cytometric-analysis-of-platelet-function-in-patients-with-a-suspected-platelet-function-defect
#16
I van Asten, R E G Schutgens, M Baaij, J Zandstra, M Roest, G Pasterkamp, A Huisman, S J A Korporaal, R T Urbanus
Essentials The diagnosis of mild platelet function disorders (PFDs) is challenging. Validation of flow cytometric testing in patients with suspected PFDs is required. Flow cytometry has added value to light transmission aggregometry (LTA) in diagnosis of PFDs. There is fair agreement in diagnosing PFDs between LTA and flow cytometry. SUMMARY: Background Light transmission aggregometry (LTA) is the most commonly used test for the diagnosis of platelet function disorders (PFDs), but has moderate sensitivity for mild PFDs...
April 2018: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/29321442/acquired-von-willebrand-syndrome-due-to-aortic-valve-stenosis-in-a-case-with-antiphospholipid-antibody
#17
Hiroaki Tanaka, Yurie Nagai, Chihiro Kuwabara, Ryo Shimizu, Akihide Umeki, Tetsufumi Yamamoto
Acquired von Willebrand syndrome (AVWS) is a bleeding disorder caused by an acquired deficiency of von Willebrand factor (vWF). Some patients with AVWS show a low bleeding tendency and are diagnosed by the presence of a mild prolongation of activated partial thromboplastin time (APTT) preoperatively. Another cause of APTT prolongation is the presence of antiphospholipid antibody (aPL). We experienced a case of AVWS due to aortic valve stenosis in a patient with aPL in whom aortic valve replacement surgery was successful with vWF replacement...
January 11, 2018: Internal Medicine
https://www.readbyqxmd.com/read/29296726/novel-approach-to-genetic-analysis-and-results-in-3000-hemophilia-patients-enrolled-in-the-my-life-our-future-initiative
#18
Jill M Johnsen, Shelley N Fletcher, Haley Huston, Sarah Roberge, Beth K Martin, Martin Kircher, Neil C Josephson, Jay Shendure, Sarah Ruuska, Marion A Koerper, Jaime Morales, Glenn F Pierce, Diane J Aschman, Barbara A Konkle
Hemophilia A and B are rare, X-linked bleeding disorders. My Life, Our Future (MLOF) is a collaborative project established to genotype and study hemophilia. Patients were enrolled at US hemophilia treatment centers (HTCs). Genotyping was performed centrally using next-generation sequencing (NGS) with an approach that detected common F8 gene inversions simultaneously with F8 and F9 gene sequencing followed by confirmation using standard genotyping methods. Sixty-nine HTCs enrolled the first 3000 patients in under 3 years...
May 23, 2017: Blood Advances
https://www.readbyqxmd.com/read/29240509/mild-bleeding-disorders-what-every-clinician-should-know
#19
H K Hussein, Plr Nicolson, K Fordwor, G C Lowe
Patients with mild bleeding disorders are under-recognized and frequently present to general physicians. The underlying reasons for bleeding are multifactorial. There is little evidence to guide diagnostic and management decision making in patients with mild bleeding disorders. This article outlines different types of mild bleeding disorders, with a particular focus on bleeding associated with low levels of von Willebrand factor and mild platelet defects. It gives practical, evidence-based advice on the investigation and management of patients with a suspected or known mild bleeding disorder, considering the scenarios of an acute bleed, stable outpatient, peri-surgical management and thrombosis...
December 2, 2017: British Journal of Hospital Medicine
https://www.readbyqxmd.com/read/29230938/normal-aptt-in-children-with-mild-factor-xi-deficiency
#20
John Puetz, Christopher Hugge, Karen Moser
It has been suggested that persons with factor XI deficiency can have a normal activated partial thromboplastin time (aPTT). This notion is based on limited data, especially in children. Because of the central role the aPTT plays in diagnostic algorithms for bleeding disorders, it is important to know if a normal aPTT eliminates the need for factor XI activity testing. Our institutional database contains seven children with factor XI deficiency, of whom four have a normal aPTT. This supports the hypothesis that children with factor XI deficiency can have a normal aPTT...
April 2018: Pediatric Blood & Cancer
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