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Mild bleeding disorders

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https://www.readbyqxmd.com/read/27872729/mild-bleeders-diagnosis-is-elusive-in-large-number-of-patients
#1
Mrinalini Kotru, Deepti Mutereja, Abhishek Purohit, Seema Tyagi, Manoranjan Mahapatra, Renu Saxena, Hara Prasad Pati
BACKGROUND: Bleeding is a common clinical presentation. Even patients with mild bleeding disorders are extensively investigated for ascertaining the cause. The present study was conducted in order to evaluate the extent of the possibility of diagnosis in mild bleeding disorders. MATERIAL AND METHODS: This was a prospective study of patients referred for work up of mild bleeding for a period of 13 months. A complete blood count, peripheral smear examination, Prothrombin time, Partial Thromboplastin time and Thrombin Time, Platelet Aggregometry test, tests for von Willebrand's disease and Platelet Factor 3 availability were measured...
2016: Mediterranean Journal of Hematology and Infectious Diseases
https://www.readbyqxmd.com/read/27863189/hemophilia-in-sports-a-case-report-and-prophylactic-protocol
#2
Mark Maffet, Jimmy Roton
OBJECTIVE:   To describe a successful prophylactic protocol for managing an athlete with hemophilia playing at a high level of contact sports. BACKGROUND:   Published data show that team physicians are not comfortable either treating athletes with bleeding disorders or allowing them to participate in contact sports. Much of the literature historically has recommended against allowing athletes with bleeding disorders to play sports at all and certainly against playing contact sports...
November 18, 2016: Journal of Athletic Training
https://www.readbyqxmd.com/read/27853682/acute-cervical-spontaneous-spinal-epidural-hematoma-presenting-with-minimal-neurological-deficits-a-case-report
#3
Jisoon Huh, Ho-Young Kwak, You-Nam Chung, Sun Kyung Park, Yun Suk Choi
INTRODUCTION: Spontaneous spinal epidural hematoma (SSEH) is an uncommon but potentially fatal condition. The increased bleeding tendency associated with anticoagulant medications has been proven to increase the risk of SSEH. The symptoms of SSEH usually begin with sudden severe neck or back pain and are followed by neurological deficits. However, some cases present with only axial pain or with radicular pain similar to herniated disc disorders. CASE PRESENTATION: A 28-year-old healthy man developed a sudden onset of severe neck and right shoulder pain with mild arm weakness...
October 2016: Anesthesiology and Pain Medicine
https://www.readbyqxmd.com/read/27824213/combined-coagulation-factor-viii-and-factor-ix-deficiency-cdf8f9-in-a-patient-from-lithuania
#4
V Ivaškevičius, B Pezeshkpoor, A Biswas, G Goldmann, S Horneff, M Gimbutyte, L Malciute, R Jurgutis, J Oldenburg
: Haemophilia A (FVIII deficiency) and haemophilia B (FIX deficiency) are X-linked inherited bleeding disorders. It is a very rare event to identify both haemophilias in the same patient. So far, only two families with such combination are reported in the literature worldwide supported by genetic background. PATIENTS AND METHODS: Evaluation of clinical data, determination of FVIII and FIX levels and genetic analysis of F8 and F9 genes by direct sequencing. RESULTS: We report on a patient having severe haemophilia B (FIX:C <1 IU dl(-1)) and mild haemophilia A (FVIII:C 18 IU dl(-1) )...
November 8, 2016: Hämostaseologie
https://www.readbyqxmd.com/read/27797267/plasma-derived-human-factor-x-concentrate-for-on-demand-and-perioperative-treatment-in-factor-x-deficient-patients-pharmacology-pharmacokinetics-efficacy-and-safety
#5
Amy Shapiro
Hereditary factor X (FX) deficiency is a rare autosomal recessive bleeding disorder characterized mainly by mild-to-severe bleeding into the mucous membranes, muscles or joints. Previously, treatment options for hereditary FX deficiency were limited mostly to products that may not specify FX content (i.e. fresh frozen plasma and prothrombin complex concentrates) and that have associated safety concerns. To meet the need for a single-factor replacement therapy specifically for use in FX-deficient patients, a high-purity, high-potency, human plasma-derived FX concentrate (pdFX; Coagadex®; Bio Products Laboratory, Elstree, UK) has been developed and approved for treatment of perioperative bleeding and on-demand treatment in FX-deficient patients...
November 2, 2016: Expert Opinion on Drug Metabolism & Toxicology
https://www.readbyqxmd.com/read/27795526/rare-bleeding-disorders-diagnosis-of-platelet-function-disorder
#6
Hisashi Kato
Platelets are critical for hemostasis and genetic defects involving platelet functions result in symptomatic bleeding of varying severities. In contrast to platelet quantitative disorders, qualitative platelet disorders are relatively rare and are difficult to diagnose, especially in patients with mild bleeding symptoms due to their lack of specificity for platelet dysfunction. In addition, the lack of standard platelet function tests makes it difficult for physicians to clinically distinguish patients from healthy subjects and, on occasion, the cause of bleeding symptoms remains unspecified...
2016: [Rinshō Ketsueki] the Japanese Journal of Clinical Hematology
https://www.readbyqxmd.com/read/27683759/a-novel-platelet-type-von-willebrand-disease-mutation-gp1ba-p-met255ile-associated-with-type-2b-malm%C3%A3-new-york-von-willebrand-disease
#7
Cécile Lavenu-Bombled, Corinne Guitton, Arnaud Dupuis, Marie-Jeanne Baas, Céline Desconclois, Marie Dreyfus, Renhao Li, Claudine Caron, Christian Gachet, Edith Fressinaud, François Lanza
Interaction between von Willebrand factor (VWF) and platelet GPIbα is required for primary haemostasis. Lack or loss-of-function in the ligand-receptor pair results in bleeding complications. Paradoxically, gain-of-function mutations in VWF or GPIbα also result in bleeding complications as observed in type 2B von Willebrand disease (VWD) and platelet-type- (PT-) VWD, respectively. A similar phenotype is observed with increased ristocetin-induced platelet agglutination and disappearance of the highest molecular weight multimers of VWF...
November 30, 2016: Thrombosis and Haemostasis
https://www.readbyqxmd.com/read/27681307/uniparental-disomy-causes-deficiencies-of-vitamin-k-dependent-proteins
#8
M A Dasi, R Gonzalez-Conejero, S Izquierdo, J Padilla, J L Garcia, N Garcia-Barberá, B Argilés, M E de la Morena-Barrio, J M Hernández-Sánchez, J M Hernández-Rivas, V Vicente, J Corral
BACKGROUND: Inherited deficiency of all vitamin K-dependent coagulant factors (VKCFD) is a rare autosomal recessive disorder caused by mutations in γ-glutamyl carboxylase (GGCX) or vitamin K-epoxide reductase (VKORC1) with great heterogeneity both in terms of clinical presentation and response to treatment. OBJECTIVE: To characterize the molecular basis of VKCFD in a Spanish family. METHODS & RESULTS: Sequencing of candidate genes, comparative genomic hybridization and massive sequencing identified a new mechanism causing VKCFD in the proband...
September 28, 2016: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/27648611/von-willebrand-disease-and-pregnancy-a-review-of-evidence-and-expert-opinion
#9
Emily Reynen, Paula James
von Willebrand disease (VWD) is a common, inherited bleeding disorder. There are three main types of VWD, which result in a quantitative or qualitative deficiency in von Willebrand factor (VWF) and in severe cases, also Factor VIII (FVIII). The severity of bleeding depends on the underlying pathophysiology. Type 1 VWD is usually mild, while types 2 or 3 VWD can be associated with moderate or significant bleeding. Managing pregnant women with VWD requires a multidisciplinary approach. Such patients are at increased risk of postpartum hemorrhage...
September 20, 2016: Seminars in Thrombosis and Hemostasis
https://www.readbyqxmd.com/read/27629384/combined-variants-in-factor-viii-and-prostaglandin-synthase-1-amplify-hemorrhage-severity-across-three-generations-of-descendants
#10
D Nance, R A Campbell, J W Rowley, J M Downie, L B Jorde, W H Kahr, S A Mereby, N D Tolley, G A Zimmerman, A S Weyrich, M T Rondina
: Essentials Co-existent damaging variants are likely to cause more severe bleeding and may go undiagnosed. We determined pathogenic variants in a three-generational pedigree with excessive bleeding. Bleeding occurred with concurrent variants in prostaglandin synthase-1 (PTGS-1) and factor VIII. The PTGS-1 variant was associated with functional defects in the arachidonic acid pathway. SUMMARY: Background Inherited human variants that concurrently cause disorders of primary hemostasis and coagulation are uncommon...
September 14, 2016: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/27627771/-cemented-total-knee-replacement-comparative-study-between-the-use-or-not-of-tourniquet-on-the-inmediate-results
#11
J A Gutiérrez-García, M Sierra-Pérez, R A García-Velazco, C A Salas-Mora, V M Cisneros-González
Comparison of immediate postoperative results of patients undergoing cemented total knee arthroplasty with and without ischemia. Observational, cross-sectional, retrospective, analytical, single-center study that included 180 patients who underwent total knee arthroplasty from 2011 to 2014: 120 without ischemia, 60 with ischemia. Mean age was 70 years with SD ± 7. Criteria to assess the immediate postoperative results include intraoperative bleeding, hemoglobin differential and pain. Exclusion criteria comprised patients being treated at a pain clinic, those on anticoagulants, with a history of bleeding disorders, psychiatric conditions, kidney failure or those intolerant to NSAIDs...
January 2016: Acta Ortopédica Mexicana
https://www.readbyqxmd.com/read/27614228/myh9-related-disorder-a-probable-may-hegglin-anomaly-case-series-a-tertiary-care-experience
#12
Vandana Kamath, Kiruthiga Kala Gnanasekaran, Joy Mammen
OBJECTIVE/BACKGROUND: May-Hegglin anomaly (MHA) is a rare familial bleeding disorder characterized by a triad of thrombocytopenia, giant platelets, and Döhle-like inclusion bodies within the leukocytes. The clinical spectrum as well as the pathophysiology of this entity is not well defined. The objective of this work is to present a series of three cases of MHA diagnosed in our hospital, where the patients presented with variable bleeding manifestations, thrombocytopenia, and giant platelets...
December 2016: Hematology/oncology and Stem Cell Therapy
https://www.readbyqxmd.com/read/27611464/relative-contributions-of-bleeding-scores-and-iron-status-on-health-related-quality-of-life-in-von-willebrand-disease-a-cross-sectional-study
#13
Y Xu, M Deforest, J Grabell, W Hopman, P James
INTRODUCTION: von Willebrand disease (VWD) is the most common inherited bleeding disorder known in humans. Currently, studies investigating the health-related quality of life (HR-QoL) in VWD using standardized tools are limited, particularly among patients with mild decreases in von Willebrand factor or activity. AIM: To determine HR-QoL and its predictors among patients with mild, moderate and severe forms of VWD. METHODS: Patients with clinical diagnosis of VWD were recruited from a tertiary Inherited Bleeding Disorder Clinic...
September 9, 2016: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/27606572/all-too-common-bleeding-and-genetic-variation
#14
J M Johnsen
No abstract text is available yet for this article.
September 8, 2016: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/27604306/retinal-vasculopathy-with-cerebral-leukoencephalopathy-and-systemic-manifestations
#15
Anine H Stam, Parul H Kothari, Aisha Shaikh, Andreas Gschwendter, Joanna C Jen, Suzanne Hodgkinson, Todd A Hardy, Michael Hayes, Peter A Kempster, Katya E Kotschet, Ingeborg M Bajema, Sjoerd G van Duinen, Marion L C Maat-Schieman, Paulus T V M de Jong, Marc D de Smet, Didi de Wolff-Rouendaal, Greet Dijkman, Nadine Pelzer, Grant R Kolar, Robert E Schmidt, JoAnne Lacey, Daniel Joseph, David R Fintak, M Gilbert Grand, Elizabeth M Brunt, Helen Liapis, Rula A Hajj-Ali, Mark C Kruit, Mark A van Buchem, Martin Dichgans, Rune R Frants, Arn M J M van den Maagdenberg, Joost Haan, Robert W Baloh, John P Atkinson, Gisela M Terwindt, Michel D Ferrari
Cerebroretinal vasculopathy, hereditary vascular retinopathy, and hereditary endotheliopathy, retinopathy, nephropathy and stroke are neurovascular syndromes initially described as distinct entities. Recently they were shown to be one disease caused by C-terminal frame-shift mutations in TREX1, which was termed 'retinal vasculopathy with cerebral leukodystrophy'. Here we defined the genetic and clinicopathologic spectrum of this clinically and pathophysiologically poorly characterized and frequently misdiagnosed fatal neurovascular disorder...
September 6, 2016: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/27530715/an-institutional-pilot-study-to-investigate-physical-activity-patterns-in-boys-with-haemophilia
#16
V Bouskill, P Hilliard, S Stephens, C Zhang, K Whitney, M Carcao
INTRODUCTION: Haemophilia is a bleeding disorder characterized by musculoskeletal bleeding. Trauma-induced bleeding into joints and muscles may be associated with participation in physical activities. Recognizing this, persons with haemophilia may limit physical activities to avoid bleeding. The characterization of physical activity profiles (type, intensity, frequency and duration) in children with differing severities of haemophilia has not been well documented. This is required to better understand the relationship between physical activity and bleeding in children with haemophilia...
September 2016: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/27449675/patterns-of-bruising-in-preschool-children-with-inherited-bleeding-disorders-a-longitudinal-study
#17
Peter W Collins, Melinda Hamilton, Frank D Dunstan, Sabine Maguire, Diane E Nuttall, Ri Liesner, Angela E Thomas, John Hanley, Elizabeth Chalmers, Victor Blanchette, Alison M Kemp
OBJECTIVE: The extent that inherited bleeding disorders affect; number, size and location of bruises in young children <6 years. DESIGN: Prospective, longitudinal, observational study. SETTING: Community. PATIENTS: 105 children with bleeding disorders, were compared with 328 without a bleeding disorder and classified by mobility: premobile (non-rolling/rolling over/sitting), early mobile (crawling/cruising) and walking and by disease severity: severe bleeding disorder factor VIII/IX/XI <1 IU/dL or type 3 von Willebrand disease...
July 22, 2016: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/27426859/current-and-emerging-approaches-for-assessing-von-willebrand-disease-in-2016
#18
REVIEW
A B Federici
UNLABELLED: von Willebrand disease (VWD) is the most common inherited bleeding disorder and is due to a deficiency and/or abnormality of von Willebrand factor (VWF). VWD is inherited in an autosomal dominant or recessive pattern, but women are apparently more symptomatic. Diagnosis of VWD is still difficult in most countries due to the multiple activities of VWF and the heterogeneity of the disease. VWD is mainly associated with mild mucosal bleeding although gastrointestinal and joint bleeds may occur in severe VWD forms...
May 2016: International Journal of Laboratory Hematology
https://www.readbyqxmd.com/read/27385600/periodontitis-may-deteriorate-sinus-of-valsalva-dilatation-in-marfan-syndrome-patients
#19
Jun-Ichi Suzuki, Yasushi Imai, Mieko Aoki, Daishi Fujita, Norifumi Takeda, Norio Aoyama, Kouji Wakayama, Yuichi Ikeda, Hidetoshi Kumagai, Hiroshi Akazawa, Yuichi Izumi, Mitsuaki Isobe, Issei Komuro, Yasunobu Hirata
Marfan syndrome (MFS) is a systemic connective tissue disorder that is caused by mutations of fibrillin-1. While MFS patients are at a high risk of periodontitis and aortic diseases, little causal information has been provided to date. To clarify the relationship, their oral condition and sinus of Valsalva (SoV) were evaluated.The subjects were patients with MFS (n = 33) who attended the University of Tokyo Hospital. We divided them into two groups; MFS patients with highly dilated (the diameters were equal to or more than 39 mm) SoV (high group, n = 18) and MFS patients with mildly dilated (less than 39 mm) SoV (mild group, n = 15)...
July 27, 2016: International Heart Journal
https://www.readbyqxmd.com/read/27385253/assessment-and-validation-of-a-defined-fluid-restriction-protocol-in-the-use-of-subcutaneous-desmopressin-for-children-with-inherited-bleeding-disorders
#20
J A Mason, J D Robertson, J McCosker, B A Williams, S A Brown
INTRODUCTION: Despite the availability of subcutaneous desmopressin (1-deamino-8-d-arginine vasopressin, SC-DDAVP) as a haemostatic agent for children with mild bleeding disorders, few publications specifically address the safety or efficacy of this mode of administration. AIM: Our aim was to assess whether a defined fluid restriction protocol was effective in preventing hyponatremia in children receiving perioperative SC-DDAVP, and to document adequate biological and clinical response in this setting...
September 2016: Haemophilia: the Official Journal of the World Federation of Hemophilia
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