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diagnosis of bleeding diathesis

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https://www.readbyqxmd.com/read/29145678/-thrombocytosis-and-thrombocytopenia-background-and-clinical-relevance
#1
Kai Wille, Parvis Sadjadian, Martin Griesshammer
Due to the central role of platelets in hemostasis, the clinical relevance of quantitative changes in platelet counts (< 150 G/l or > 450 G/l) may be significant. Thrombopoesis (= production of platelets) occurs in the bone marrow, and the hormone thrombopoetin takes control on its regulation.In thrombocytosis, primary causes have to be distinguished from the far more common reactive (= secondary) reasons. The most important form of primary thrombocytosis occurs in myeloproliferative neoplasms especially in essential thrombocythemia (ET)...
November 2017: Deutsche Medizinische Wochenschrift
https://www.readbyqxmd.com/read/29125443/neurosurgical-management-in-children-with-bleeding-diathesis-auditing-neurological-outcome
#2
Zaitun Zakaria, Chandrasekaran Kaliaperumal, Darach Crimmins, John Caird
OBJECTIVE The aim of this study was to assess the outcome of neurosurgical treatment in children with bleeding diathesis and also to evaluate the current management plan applied in the authors' service. METHODS The authors retrospectively analyzed all cases in which neurosurgical procedures were performed in pediatric patients presenting with intracranial hematoma due to an underlying bleeding tendency over a 5-year period at their institution. They evaluated the patients' neurological symptoms from the initial referral, hematological abnormalities, surgical treatment, neurological outcome, and scores on the Pediatric Glasgow Outcome Scale-Extended (GOS-E Peds) obtained 1 year after the last operation...
November 10, 2017: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/29090612/hermansky-pudlak-syndrome-subtype-5-hps-5-novel-mutation-in-a-65-year-old-with-oculocutaneous-hypopigmentation-and-mild-bleeding-diathesis-the-importance-of-recognizing-a-subtle-phenotype
#3
Juliana Perez Botero, Dong Chen, Julie A Majerus, Lea M Coon, Rong He, Deepti M Warad, Rajiv K Pruthi, William L Nichols
Hermansky-Pudlak syndrome (HPS) - characterized by the distinct clinical phenotypes of both oculocutaneous albinism and mild bleeding diathesis-is caused by mutations in genes that have crucial roles in the assembly of cellular organelles (skin melanosomes, platelet delta [dense] granules, lung lamellar bodies, and cytotoxic T-cell lymphocyte granules). Immunodeficiency, pulmonary fibrosis and granulomatous colitis are associated with some, but not all subtypes of HPS, with varying degrees of clinical severity...
November 1, 2017: Platelets
https://www.readbyqxmd.com/read/28951819/bleeding-diathesis-or-fabrication-munchausen-syndrome
#4
Syeda Naqvi, Raad Asadullah Khan, Chintan Rupareliya, Rida Hanif, Zeeshan Ali, Faiza Farooq
A case history of an 18-year-old female with a diagnosis of Munchausen syndrome is presented with a literature review of this rare syndrome. We present this case because of the young age and the patient's overwhelming response to cognitive behavioral therapy. We recommend collateral history taking, exclusion of all possible etiologies and detailed briefing of family members as it plays a vital role to reduce the mental and financial suffering of the patient.
June 12, 2017: Curēus
https://www.readbyqxmd.com/read/28804836/assessment-of-factor-xiii
#5
László Muszbek, Éva Katona, Adrienne Kerényi
Blood coagulation factor XIII (FXIII) is essential for maintaining hemostasis. The absence of FXIII results in severe bleeding diathesis, which without prophylaxis frequently leads to fatal bleeding. As the usual hemostasis screening tests remain normal, the diagnosis of FXIII deficiency needs specific tests. Here, we describe FXIII activity determination by the ammonia release assay, which is the first-line test in the diagnostic algorithm for FXIII deficiency. The method for another activity test, the undeservedly rarely used fibrin cross-linking assay, is also presented...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28766854/potential-misdiagnosis-of-dysfibrinogenaemia-data-from-multicentre-studies-amongst-uk-neqas-and-pro-rbdd-project-laboratories
#6
I Jennings, S Kitchen, M Menegatti, R Palla, I Walker, F Peyvandi, M Makris
INTRODUCTION: Mutations in fibrinogen (Fgn) genes, causing dysfibrinogenaemia, can result in either a bleeding or thrombophilic diathesis. Dysfibrinogenaemia is infrequently encountered in hospital laboratories, and the utility of different assays in the diagnosis of dysfibrinogenaemia has not previously been explored in a multicentre study. We describe here an exercise in which PRO-RBDD project (prospective data collection on patients with fibrinogen and Factor XIII deficiencies) centres, and UK NEQAS centres, performed investigations for dysfibrinogenaemia...
August 2, 2017: International Journal of Laboratory Hematology
https://www.readbyqxmd.com/read/28640947/clinico-molecular-analysis-of-eleven-patients-with-hermansky-pudlak-type-5-syndrome-a-mild-form-of-hps
#7
Vincent Michaud, Eulalie Lasseaux, Claudio Plaisant, Alain Verloes, Yaumara Perdomo-Trujillo, Christian Hamel, Nursel H Elcioglu, Bart Leroy, Josseline Kaplan, Pierre-Simon Jouk, Didier Lacombe, Patricia Fergelot, Fanny Morice-Picard, Benoit Arveiler
Hermansky-Pudlak syndrome (HPS), first described in 1959, is a rare form of syndromic oculocutaneous albinism associated with bleeding diathesis and in some cases pulmonary fibrosis and granulomatous colitis. All 10 HPS types are caused by defects in vesicle trafficking of lysosome-related organelles (LRO) proteins. The HPS5 protein associates with HPS3 and HPS6 to form the biogenesis of lysosome-related organelles complex-2 (BLOC-2). Here, we report the clinical and genetic data of 11 patients with HPS-5 analyzed in our laboratory...
June 22, 2017: Pigment Cell & Melanoma Research
https://www.readbyqxmd.com/read/28352011/biopsy-of-small-kidneys-a-safe-and-a-useful-guide-to-potentially-treatable-kidney-disease
#8
Kamel El-Reshaid, Wael El-Reshaid, Dalal Al-Bader, Jozsef Varro, John Madda, Hosameldin Tawfik Sallam
Over the past four years, all patients with unexplained rapid progression of their renal disease were subjected to kidney biopsy, despite their small size (<9 cm), to define its etiology. Children, pregnant women, morbidly obese patients, and those with an unstable cardiovascular state, septicemia, bleeding diathesis as well as those kidney size with size <6 cm were excluded from the study. Doppler ultrasound was used to exclude renovascular/ischemic nephropathy. The procedure was performed by an interventional radiologist using a biopsy gun technique and under ultrasound guidance...
March 2017: Saudi Journal of Kidney Diseases and Transplantation
https://www.readbyqxmd.com/read/28345289/severe-bleeding-diatheses-in-an-elderly-patient-with-combined-type-autoantibody-against-factor-xiii-a-subunit-novel-approach-to-the-diagnosis-and-classification-of-anti-factor-xiii-antibodies
#9
M Kun, N Szuber, É Katona, K Pénzes, A Bonnefoy, B Bécsi, F Erdődi, G E Rivard, L Muszbek
INTRODUCTION: Acquired factor XIII (FXIII) deficiency due to autoantibody is a rare, severe bleeding diathesis. Its laboratory diagnosis and classification represents a difficult task. AIM: Introduction of novel approaches into the diagnosis and characterization of anti-FXIII autoantibody and demonstration of their use in the diagnosis of a patient with autoimmune FXIII deficiency. METHODS: Factor XIII activity, FXIII antigen levels and the titre of anti-FXIII-A antibody were monitored throughout the course of the disease...
March 26, 2017: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/28064294/primary-versus-secondary-immune-thrombocytopenia-in-adults-a-comparative-analysis-of-clinical-and-laboratory-attributes-in-newly-diagnosed-patients-in-southern-pakistan
#10
S Sultan, S J Ahmed, S Murad, S M Irfan
BACKGROUND: Immune thrombocytopenic purpura (ITP) is a hemorrhagic diathesis, characterized by platelets destruction alongside impaired production. Patients from Asian regions often exhibit distinctive characteristics in comparison to the western patients. We accomplished this study to evaluate the prevalence of primary versus secondary ITP along with the comparative analysis between them. The secondary objective was to determine the etiological spectrum of secondary ITP. METHODS: We illustrate the results of a large cohort of newly diagnosed adults ITP from southern Pakistan...
October 2016: Medical Journal of Malaysia
https://www.readbyqxmd.com/read/28028990/acquired-von-willebrand-syndrome
#11
REVIEW
Andrzej Mital
Acquired von Willebrand syndrome is a rare hemorrhagic diathesis, with clinical symptoms similar to those associated with the inherited form von Willebrand disease. This syndrome is characterized by a lack of previous bleeding symptoms, negative familial history, and occurrence in a relatively older age. Most commonly, acquired von Willebrand syndrome develops in the course of other conditions, such as lymphoproliferative, myeloproliferative, cardiovascular and autoimmune disorders; additionally, it can be associated with some non-hematological malignancies and use of certain prescription drugs...
November 2016: Advances in Clinical and Experimental Medicine: Official Organ Wroclaw Medical University
https://www.readbyqxmd.com/read/27866582/bleeding-diatheses-approach-to-the-patient-who-bleeds-or-has-abnormal-coagulation
#12
REVIEW
Marcia Paddock, John Chapin
Many complex elements contribute to normal hemostasis, and an imbalance of these elements may lead to abnormal bleeding. In addition to evaluating medication effects, the hematologist must evaluate for congenital or acquired deficiencies in coagulation factors and platelet disorders. This evaluation should include a thorough bleeding history with careful attention to prior hemostatic challenges and common laboratory testing, including coagulation studies and/or functional platelet assays. An accurate diagnosis of a bleeding diathesis and selection of appropriate treatment are greatly aided by a basic understanding of the mechanisms of disease and the tests used to diagnose them...
December 2016: Primary Care
https://www.readbyqxmd.com/read/27829879/hermansky-pudlak-syndrome-in-pregnancy-a-case-report
#13
Lydia Yusuf, Srivasavi Dukka, Etienne Ciantar
Hermansky-Pudlak syndrome is a rare autosomal recessive disorder estimated to affect 1 in 500,000 to 1,000,000 individuals worldwide. Clinically, it presents as oculocutaneous albinism combined with bleeding diathesis. This is due to the absence of dense bodies in platelets causing a delayed secondary response resulting in prolonged bleeding time despite normal platelet count and coagulation factors. This has consequences for major bleeding, the risk of which is high at delivery. In the longer term, the condition is also associated with the development of pulmonary fibrosis, inflammatory bowel disorders caused by granulomatous colitis and renal failure...
December 2016: Obstetric Medicine
https://www.readbyqxmd.com/read/27615056/hemophilic-pseudotumor-in-a-non-hemophilic-patient-treated-with-a-hybrid-procedure-of-preoperative-embolization-of-the-feeding-arteries-followed-by-surgical-resection-a-case-report
#14
Sorcha Allen, Craig B Reeder, Mark J Kransdorf, Christopher P Beauchamp, Matthew A Zarka, Farouk Mookadam
INTRODUCTION: Hemophilic pseudotumor is a rare but well documented complication seen in approximately 1-2% of patients with hemophilia. The incidence continues to decrease, likely because of increasingly sophisticated techniques in managing factor deficiency. We present a case of hemophilic pseudotumor in a patient without hemophilia, an exceptionally rare entity, and outline a hybrid approach to treatment. PRESENTATION OF CASE: The patient presented with a left sided iliopsoas mass and associated radiculopathy, with a history of a poorly characterized bleeding diathesis and Noonan's syndrome...
2016: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/27609734/life-threatening-hemorrhage-from-acquired-hemophilia-a-as-a-presenting-manifestation-of-prostate-cancer
#15
Chirag Sheth, Amandeep Gill, Sumeet Sekhon
Acquired factor VIII deficiency (acquired hemophilia A) is a rare condition characterized by the acquisition of autoantibodies that affect the clotting activity of factor VIII (fVIII). The most common manifestation in affected patients is a hemorrhagic diathesis. This disorder is associated with autoimmune diseases, pregnancy, postpartum period, drugs, and malignancy. Management of this condition begins with attempts to arrest an acute bleed based on the site and severity of bleeding and inhibitor titer. The next priority is eradication of the fVIII antibodies using immunosuppressive therapies...
2016: Journal of Community Hospital Internal Medicine Perspectives
https://www.readbyqxmd.com/read/27529121/pulmonary-fibrosis-in-hermansky-pudlak-syndrome
#16
REVIEW
Glenn W Vicary, Yeidyly Vergne, Alberto Santiago-Cornier, Lisa R Young, Jesse Roman
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive genetic disorder characterized by oculocutaneous albinism and a bleeding diathesis due to platelet dysfunction. More than 50% of cases worldwide are diagnosed on the Caribbean island of Puerto Rico. Genetic testing plays a growing role in diagnosis; however, not all patients with HPS have identified genetic mutations. In Puerto Rico, patients with HPS are often identified shortly after birth by their albinism, although the degree of hypopigmentation is highly variable...
October 2016: Annals of the American Thoracic Society
https://www.readbyqxmd.com/read/27473743/prozone-effect-in-the-diagnosis-of-lupus-anticoagulant-for-the-lupus-anticoagulant-hypoprothrombinemia-syndrome
#17
Jing Jin, James L Zehnder
OBJECTIVES: The main clinical sequela of a lupus anticoagulant is increased thrombosis risk. However, bleeding due to lupus anticoagulant-hypoprothrombinemia syndrome is a rare but well-described manifestation of antiphospholipid syndrome. The association of acute acquired hypoprothrombinemia is caused by a lupus anticoagulant's specificity to prothrombin, which results in clearance of prothrombin and bleeding due to hypoprothrombinemia (usually <10% of normal). Severe life-threatening bleeding is most frequently reported in children with systemic lupus erythematosus or in healthy children after viral infection...
August 2016: American Journal of Clinical Pathology
https://www.readbyqxmd.com/read/27403770/light-transmission-aggregometry-does-not-correlate-with-the-severity-of-%C3%AE-granule-platelet-storage-pool-deficiency
#18
Gary M Woods, Elizabeth L Kudron, Kyle Davis, Joseph Stanek, Bryce A Kerlin, Sarah H O'Brien
Delta-granule platelet storage pool deficiency (δ-PSPD) is a poorly studied bleeding diathesis resulting from either decreased granule content or decreased average number of platelet δ-granules. Light transmission aggregometry (LTA) is commonly used to evaluate for δ-PSPD and platelet electron microscopy (EM) is used to confirm the diagnosis. Currently, little data exist examining the relationship between the likelihood of abnormal platelet aggregation findings, severity of δ-granule deficiency on platelet EM, and severity of bleeding symptoms in patients with δ-PSPD...
October 2016: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/27299051/spinal-subdural-haematoma
#19
Kothari Manish K, Shah Kunal Chandrakant, Nene Abhay M
INTRODUCTION: Spinal Subdural hematoma is a rare cause of radiculopathy and spinal cord compression syndromes. It's early diagnosis is essential. Chronological appearance of these bleeds vary on MRI. CASE REPORT: A 56 year old man presented with progressive left lower limb radiculopathy and paraesthesias with claudication of three days duration. MRI revealed a subdural space occupying lesion compressing the cauda equina at L5-S1 level producing a 'Y' shaped dural sac (Y sign), which was hyperintense on T1W imaging and hypointense to cord on T2W image...
April 2015: Journal of Orthopaedic Case Reports
https://www.readbyqxmd.com/read/27071048/diagnosis-and-management-of-congenital-and-acquired-fxiii-deficiencies
#20
REVIEW
László Muszbek, Éva Katona
Inherited deficiency of FXIII A subunit (FXIII-A) is a rare (1:2,000,000) but very severe bleeding diathesis. The incidence is much higher in communities where the practice of consanguineous marriage is combined with founder effect mutation. Because of the high risk of intracranial bleeding, life-long prophylaxis, preferably using FXIII concentrate, is mandatory. In FXIII-B subunit deficiency the bleeding diathesis is mild to moderate. FXIII deficiency is frequently associated with impaired wound healing. Women suffering from FXIII deficiency cannot carry pregnancies to term; in severe cases spontaneous abortion occurs in the first trimester...
June 2016: Seminars in Thrombosis and Hemostasis
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