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Inherited coagulopathies

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https://www.readbyqxmd.com/read/27725587/genetic-diagnosis-for-congenital-hemolytic-anemia
#1
Shouichi Ohga
Congenital hemolytic anemia is a group of monogenic diseases presenting with anemia due to increased destruction of circulating erythrocytes. The etiology of inherited anemia accounts for germline mutations of the responsible genes coding for the structural components of erythrocytes and extra-erythrocytes. The erythrocyte abnormalities are classified into three major disorders of red cell membrane defects, hemoglobinopathies, and red cell enzymopathies. The extra-erythrocyte abnormalities, typified by consumption coagulopathy and intravascular hemolysis, include Upshaw-Schulman syndrome and atypical hemolytic uremic syndrome...
2016: [Rinshō Ketsueki] the Japanese Journal of Clinical Hematology
https://www.readbyqxmd.com/read/27698778/scrub-typhus-associated-with-hemophagocytic-lymphohistiocytosis-a-report-of-six-pediatric-patients
#2
Yingkang Jin, Li Huang, Huifeng Fan, Gen Lu, Yi Xu, Zhiyuan Wu
Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening immune disorder that may be inherited or secondary to infection, malignancy or rheumatological disease. The aim of the present study was to highlight the clinical features of scrub typhus-associated HLH in children. A retrospective study was performed on 6 pediatric patients with scrub typhus-associated HLH. For each patient, medical records were reviewed and analyzed, and demographic, clinical and laboratory data and outcomes were collected. The duration of fever prior to admission ranged between 4 and 12 days...
October 2016: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/27635271/medical-and-surgical-management-of-postpartum-hemorrhage-in-a-woman-with-factor-xiii-deficiency
#3
Michael Cheng, Janelle Nassim, Ario Angha, Krisna Srey, Alexander Canales, Chauniqua Kiffin, Yessin Ashmawy, Andrew A Rosenthal
Factor XIII deficiency is a rare inherited coagulopathy. Factor XIII is the last clotting factor in the coagulation cascade to insure strength and stability to fibrin clots. Without this enzyme, the fibrous clot is unstable and nonresistant to fibrinolysis. Gravid women with this congenital disease are especially at risk for complications including miscarriages and hemorrhage without appropriate interventions. We present a case of a woman in her 20s with Factor XIII deficiency who was treated with cryoprecipitate and had a successful normal spontaneous vaginal delivery; subsequently, patient suffered from postpartum hemorrhage and consumptive coagulopathy due to consumption of Factor XIII, requiring emergency surgical intervention...
2016: Case Reports in Obstetrics and Gynecology
https://www.readbyqxmd.com/read/27473518/neonatal-plasma-transfusion-an-evidence-based-review
#4
REVIEW
Amy K Keir, Simon J Stanworth
Several clinical scenarios for plasma transfusion are repeatedly identified in audits, including treatment of bleeding in association with laboratory evidence of coagulopathy, correction of disseminated intravascular coagulation, prevention of intraventricular hemorrhage, management of critically ill neonates (eg, during sepsis or as a volume expander), or correction of markers of prolonged coagulation in the absence of bleeding. The findings of at least one national audit of transfusion practice indicated that almost half of plasma transfusions are given to neonates with abnormal coagulation values with no evidence of active bleeding, despite the limited evidence base to support the effectiveness of this practice...
October 2016: Transfusion Medicine Reviews
https://www.readbyqxmd.com/read/27170327/transanal-hemorrhoidal-dearterialization-thd-a-safe-procedure-for-the-anticoagulated-patient
#5
S Atallah, G K Maharaja, B Martin-Perez, J P Burke, M R Albert, S W Larach
BACKGROUND: Approximately one in five persons living in the USA is maintained on oral anticoagulation. It has typically been recommended that anticoagulation be withheld prior to hemorrhoidal procedures. Transanal hemorrhoidal dearterialization (THD) is a minimally invasive treatment for symptomatic hemorrhoids, and outcomes with patients on anticoagulation who have undergone this procedure have not been previously reported. Here, we report our preliminary results of patients who underwent THD while on anticoagulation...
July 2016: Techniques in Coloproctology
https://www.readbyqxmd.com/read/27098410/hemophagocytic-lymphohistiocytosis-an-update-for-nephrologists
#6
REVIEW
Edward J Filippone, John L Farber
Hemophagocytic lymphohistiocytosis (HLH) is a hyperinflammatory syndrome caused by defective lytic capability of cytotoxic T lymphocytes and NK cells, which results in proliferation of benign hemophagocytic histiocytes. A cytokine storm ensues, and a severe systemic inflammatory response syndrome, multiorgan dysfunction syndrome, and death frequently follow. It may occur as a primary (inherited) form, or be acquired secondary to malignancy, infection, rheumatologic disease, or immunosuppression. Cardinal manifestations include fever, cytopenias, hepatosplenomegaly, and dysfunction of liver, kidney, CNS, and/or lung...
August 2016: International Urology and Nephrology
https://www.readbyqxmd.com/read/26866583/portuguese-haemophilia-registry-set-of-variables-for-a-computerized-solution
#7
L Teixeira, V Saavedra, B Sousa Santos, C Ferreira
National Patient Registries (NPR) have an important role in the management of haemophilia and other inherited bleeding disorders, representing powerful instruments to support healthcare and research. Computer software to assist the NPR is crucial, as it facilitates the introduction of the data from a national universe that will be centralized and merged into a unique location, thus ensuring a greater reliability and accuracy of the collected data, avoiding duplication of patients. In Portugal, despite the efforts and recognition of the need of a NPR, just recently the protocol for the establishment of the computer software to support the Portuguese National Registry of Haemophilia and other Congenital Coagulopathies (PorR H&CC) was approved...
February 11, 2016: Hämostaseologie
https://www.readbyqxmd.com/read/26704192/antifibrinolytic-therapy-for-preventing-oral-bleeding-in-patients-with-haemophilia-or-von-willebrand-disease-undergoing-minor-oral-surgery-or-dental-extractions
#8
REVIEW
Karin P M van Galen, Eveline T Engelen, Evelien P Mauser-Bunschoten, Robert J J van Es, Roger E G Schutgens
BACKGROUND: Minor oral surgery or dental extractions (oral or dental procedures) are widely performed and can be complicated by hazardous oral bleeding, especially in people with an inherited bleeding disorder such as haemophilia or Von Willebrand disease. The amount and severity of singular bleedings depend on disease-related factors, such as the severity of the haemophilia, both local and systemic patient factors (such as periodontal inflammation, vasculopathy or platelet dysfunction) and intervention-related factors (such as the type and number of teeth extracted or the dimension of the wound surface)...
December 24, 2015: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/26564083/blue-bleb-rubber-nevus-syndrome
#9
REVIEW
Fanny Ballieux, Laurence M Boon, Miikka Vikkula
Vascular malformations are errors of development of vessels that occur during embryogenesis. They are rheologically divided into slow-flow (capillary, lymphatic, venous and combined) and fast-flow (arterial, arteriovenous, and combined) malformations. These congenital lesions grow proportionally with the patient and never spontaneously regress. Venous malformations (VM) are composed of ectatic venous-like channels. They are mainly sporadic but can be inherited as an autosomal pattern. Any tissue and organ can be affected...
2015: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/26341288/clinical-presentation-etiology-and-outcome-of-stroke-in-children-a-hospital-based-study
#10
Amira Masri, Iyad Al-Ammouri
AIM: To describe clinical presentations, etiologies, and outcomes of stroke in Jordanian children. PATIENTS AND METHODS: We retrospectively reviewed the medical records of children diagnosed with ischemic stroke who presented to our clinic from January 2001 to June 2014. Patients with onset of stroke in the neonatal period were excluded. RESULTS: Twenty-four children (12 boys and 12 girls, with a male to female ratio of 1:1) were included in this study...
February 2016: Brain & Development
https://www.readbyqxmd.com/read/26066342/alg8-cdg-novel-patients-and-review-of-the-literature
#11
REVIEW
Michaela Höck, Karina Wegleiter, Elisabeth Ralser, Ursula Kiechl-Kohlendorfer, Sabine Scholl-Bürgi, Christine Fauth, Elisabeth Steichen, Karin Pichler, Dirk J Lefeber, Gert Matthjis, Liesbeth Keldermans, Kathrin Maurer, Johannes Zschocke, Daniela Karall
BACKGROUND: Since 1980, about 100 types of congenital disorders of glycosylation (CDG) have been reported representing an expanding group of inherited disorders. ALG8-CDG (= CDG-Ih) is one of the less frequently reported types of CDG, maybe due to its severe multi-organ involvement with coagulation disturbances, edema, massive gastrointestinal protein loosing enteropathy, cataracts, and often early death. We report three additional patients, provide an update on two previously reported, and summarize features of ten patients reported in literature...
2015: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/25841099/rituximab-for-treating-inhibitors-in-people-with-inherited-severe-hemophilia
#12
REVIEW
Yi Liu, Lingli Zhang, Cristina Santoro, Jie Song, Armando Rodriguez, Li Wang
BACKGROUND: Hemophilia A and B are inherited coagulation disorders characterized by a reduced or absent level of factor VIII or factor IX respectively. The severe form is characterized by a factor level less than 0.01 international units (IU) per milliliter. The development of inhibitors in hemophilia is the main complication of treatment, because the presence of these antibodies, reduces or even nullifies the efficacy of replacement therapy, making it very difficult to control the bleeding...
2015: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/25675273/translational-data-from-adeno-associated-virus-mediated-gene-therapy-of-hemophilia-b-in-dogs
#13
REVIEW
Timothy C Nichols, Margaret H Whitford, Valder R Arruda, Hansell H Stedman, Mark A Kay, Katherine A High
Preclinical testing of new therapeutic strategies in relevant animal models is an essential part of drug development. The choice of animal models of disease that are used in these studies is driven by the strength of the translational data for informing about safety, efficacy, and success or failure of human clinical trials. Hemophilia B is a monogenic, X-linked, inherited bleeding disorder that results from absent or dysfunctional coagulation factor IX (FIX). Regarding preclinical studies of adeno-associated virus (AAV)-mediated gene therapy for hemophilia B, dogs with severe hemophilia B (<1% FIX) provide well-characterized phenotypes and genotypes in which a species-specific transgene can be expressed in a mixed genetic background...
March 2015: Human Gene Therapy. Clinical Development
https://www.readbyqxmd.com/read/25548971/translational-data-from-aav-mediated-gene-therapy-of-hemophilia-b-in-dogs
#14
Timothy Nichols, Margaret H Whitford, Valder R Arruda, Hansell Hall Stedman, Mark A Kay, Katherine A High
Pre-clinical testing of new therapeutic strategies in relevant animal models is an essential part of drug development. The choice of animal models of disease that are used in these studies is driven by the strength of the translational data for informing about safety, efficacy, and success or failure of human clinical trials. Hemophilia B is a monogenic, X-linked, inherited bleeding disorder that results from absent or dysfunctional coagulation factor IX (FIX). With regards to pre-clinical studies of AAV-mediated gene therapy for hemophilia B, dogs with severe hemophilia B (<1% factor IX, FIX) provide well-characterized phenotypes and genotypes in which a species-specific transgene can be expressed in a mixed genetic background...
December 30, 2014: Human Gene Therapy. Clinical Development
https://www.readbyqxmd.com/read/25356716/recurrent-episodes-of-severe-bleeding-caused-by-congenital-factor-xiii-deficiency-in-a-dog
#15
Lyndsay R Kong, Elisabeth C R Snead, Hilary Burgess, Marc P Dhumeaux
CASE DESCRIPTION: A 5-year-old castrated male Toy Poodle cross was evaluated because of lethargy, inappetence, and suspected abdominal hemorrhage. The dog had been evaluated on 4 other occasions for episodes of excessive bleeding associated with trauma or surgical procedures. CLINICAL FINDINGS: At previous evaluations, results of repeated measurements of prothrombin time, partial thromboplastin time, and buccal mucosal bleeding time were unremarkable; activated clotting time, plasma von Willebrand factor concentration, results of platelet function testing, and plasma factor VII, VIII, IX, X, XI, and XII concentrations were considered normal...
November 15, 2014: Journal of the American Veterinary Medical Association
https://www.readbyqxmd.com/read/25288890/hemophilia-a-in-brazil-epidemiology-and-treatment-developments
#16
REVIEW
Adriana Aparecida Ferreira, Isabel Cristina Gonçalves Leite, Maria Teresa Bustamante-Teixeira, Maximiliano Ribeiro Guerra
Hemophilia A is an inherited disorder characterized by deficiency of coagulation factor VIII, which predisposes patients to bleeding events. Treatment is based on replacement of the deficient factor, in a therapeutic or prophylactic manner. Brazil is the country with the third largest population of people with hemophilia, for which the public health system provides free comprehensive care. Maintaining an updated registry of patients, documenting the prevalence of complications, and assessing the effectiveness of resource use are indispensable elements in the design of a well-coordinated national program...
2014: Journal of Blood Medicine
https://www.readbyqxmd.com/read/25221687/bilateral-jugular-vein-and-sigmoid-sinus-thrombosis-related-to-an-inherited-coagulopathy-an-unusual-presentation
#17
Ozge Altıntaş, Azize Esra Gürsoy, Gözde Baran, Elnur Mehdi, Talip Asil
Internal jugular vein thrombosis (IJVT) is a rare condition associated with malignancy, coagulopathy, and trauma. The optimal management of any IJVT must be individualized and depends on the condition of the patient. Case Presentation. We report the case of a 42-year-old woman with a history of a first trimester spontaneous abortion. Apart from a tension-type headache, she had no neurological symptoms. She reported an incidental diagnosis of right-sided IJVT when she was evaluated for hyperthyroidism ultrasonographically...
2014: Case Reports in Vascular Medicine
https://www.readbyqxmd.com/read/25015059/recombinant-activated-factor-vii-in-clinical-practice-a-2014-update
#18
REVIEW
Massimo Franchini, Silvia Crestani, Francesco Frattini, Cinzia Sissa, Carlo Bonfanti
Recombinant activated factor VII (rFVIIa) was initially developed to treat bleeding episodes in patients with congenital hemophilia and inhibitors. Due to the initial success in this clinical setting, its use has been extended to other coagulopathies characterized by impaired thrombin generation, i.e. acquired hemophilia, inherited factor VII deficiency and Glanzmann's thrombasthenia, for which it is currently licensed. Extensive research in the last decade has increased our knowledge of the mechanisms utilized by rFVIIa to restore normal hemostasis...
February 2015: Journal of Thrombosis and Thrombolysis
https://www.readbyqxmd.com/read/24815779/the-role-of-rixubis%C3%A2-in-the-treatment-of-hemophilia-b
#19
Leonard A Valentino
Hemophilia B is an inherited coagulopathy caused by the partial or complete deficiency of factor (F) IX. Factor replacement therapy, involving the intravenous infusion of plasma-derived or recombinant (r) FIX concentrate, is the cornerstone of treatment, used to control and prevent bleeding episodes. Although several plasma-derived FIX products are available, until recently, only a single rFIX concentrate was on the market. The aim of this paper is to review the pharmacokinetics, hemostatic efficacy, and safety of Rixubis™ (Baxter Healthcare Corporation, CA, USA), a newly licensed rFIX product...
2014: Immunotherapy
https://www.readbyqxmd.com/read/24675695/factor-v-deficiency-caused-by-a-novel-nonsense-mutation-gln2031stop-in-a-chinese-patient
#20
Yingyu Wang, Liqing Zhu, Lianmin Ye, Yaosheng Xie, Jingye Pan, Mingshan Wang
Congenital factor V deficiency is a rare bleeding disorder characterized by low coagulant activity, associated with variable phenotypic expression. Among rare inherited coagulopathies, the molecular basis of factor V deficiency is rarely described because of its relatively low prevalence in the general population. Recently, we detected two genetic variations in factor V of a Chinese patient with hereditary factor V deficiency. One was a heterozygous nonsense mutation, C67868T in exon 22, which resulted in Gln2031stop substitution in the C1 domain of factor V...
April 2014: Blood Coagulation & Fibrinolysis: An International Journal in Haemostasis and Thrombosis
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