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Mild bleeding disorders

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https://www.readbyqxmd.com/read/28804835/chromogenic-factor-viii-assays-for-improved-diagnosis-of-hemophilia-a
#1
Susan Rodgers, Elizabeth Duncan
Hemophilia A is an inherited bleeding disorder caused by a reduced level of factor VIII coagulant activity (FVIII:C) in blood. Bleeding episodes may occur spontaneously in the severe form of hemophilia or after trauma in the milder forms. It is important that patients are diagnosed correctly, which includes placing them into the correct severity category of the disorder so that appropriate treatment can be given. Diagnosis is made by determination of the amount of FVIII:C in the blood, usually using a one-stage factor VIII:C assay...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28797911/a-prospective-evaluation-of-radiation-free-direct-solitary-cholangioscopy-for-the-management-of-choledocholithiasis
#2
Monique T Barakat, Mohit Girotra, Abhishek Choudhary, Robert J Huang, Saurabh Sethi, Subhas Banerjee
BACKGROUND AND AIMS: Endoscopy has replaced many radiological studies for the GI tract. However, ERCP remains a hybrid endoscopic-fluoroscopic procedure, which limits its portable delivery, creates delays due to fluoroscopy room unavailability and exposes patients/providers to radiation. We evaluated fluoroscopy/radiation-free management of patients with non-complex choledocholithiasis using direct solitary cholangioscopy (DSC). METHODS: Patients underwent fluoroscopy-free biliary cannulation, sphincterotomy then cholangioscopy to establish location, number/size of stones and document distance from ampulla to bifurcation to guide balloon advancement...
August 7, 2017: Gastrointestinal Endoscopy
https://www.readbyqxmd.com/read/28762630/comparison-of-multiple-electrode-aggregometry-with-lumi-aggregometry-for-the-diagnosis-of-patients-with-mild-bleeding-disorders
#3
R Al Ghaithi, S Drake, S P Watson, N V Morgan, P Harrison
BACKGROUND: Multiple electrode aggregometry (MEA) measures changes in electrical impedance caused by platelet aggregation in whole blood. This approach is faster, more convenient and offers the advantage over light transmission aggregometry (LTA) of assessing platelet function in whole blood and reducing pre-analytical errors associated with preparation of platelet rich plasma (PRP). Several studies indicate the utility of this method in assessing platelet inhibition in individuals taking antiplatelet agents e...
August 1, 2017: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/28743718/twinfilin-2a-is-a-regulator-of-platelet-reactivity-and-turnover-in-mice
#4
Simon Stritt, Sarah Beck, Isabelle C Becker, Timo Vögtle, Markku Hakala, Katrin G Heinze, Xiaoping Du, Markus Bender, Attila Braun, Pekka Lappalainen, Bernhard Nieswandt
Regulated reorganization of the actin cytoskeleton is a prerequisite for proper platelet production and function. Consequently, defects in proteins controlling actin dynamics have been associated with platelet disorders in humans and mice. Twinfilin 2a (Twf2a) is a small actin-binding protein, which inhibits actin filament assembly by sequestering actin monomers and by capping filament barbed ends. Moreover, Twf2a binds heterodimeric capping proteins, but the role of this interaction in cytoskeletal dynamics has remained elusive...
July 25, 2017: Blood
https://www.readbyqxmd.com/read/28720136/bilateral-multiple-pulmonary-artery-aneurysms-associated-with-cavitary-pulmonary-tuberculosis-a-case-report
#5
Pedro Pallangyo, Frederick Lyimo, Smita Bhalia, Hilda Makungu, Bashir Nyangasa, Flora Lwakatare, Pal Suranyi, Mohamed Janabi
BACKGROUND: Pulmonary artery aneurysms constitute <1% of aneurysms occurring in the thoracic cavity. Congenital cardiac defects are responsible for the majority (>50%) of cases, however, pulmonary artery aneurysm is a rare sequelae of pulmonary tuberculosis reported in about 5% of patients with chronic cavitary tuberculosis on autopsy. The natural history of this potentially fatal condition remains poorly understood and guidelines for optimal management are controversial. CASE PRESENTATION: A 24-year-old man, a nursing student of African descent, was referred to us from an up-country regional hospital with a 4-week history of recurrent episodes of breathlessness, awareness of heartbeats and coughing blood 3 weeks after completing a 6-month course of anti-tuberculosis drugs...
July 19, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/28707410/treatment-of-an-acquired-factor-xiii-inhibitor-in-an-adolescent-with-systemic-lupus-erythematosus-and-renal-failure
#6
Cara A Rabik, Meredith A Atkinson, Sangeeta Sule, John J Strouse
BACKGROUND: Factor (F)XIII deficiency is a rare inherited bleeding disorder, but can also be acquired due to the development of inhibitors. CASE REPORT: A 17-year-old female with systemic lupus erythematosus and end-stage kidney disease secondary to Class IV lupus nephritis developed spontaneous subcutaneous and muscular hematomas and delayed major bleeding after invasive procedures. She had abnormal kaolin thromboelastography (kTEG; decreased maximal amplitude, representative of clot strength) initially attributed to thrombocytopenia and uremic platelet dysfunction, but her FXIII activity was undetectable, and a high-titer antibody against FXIII was identified...
July 13, 2017: Transfusion
https://www.readbyqxmd.com/read/28668647/toxicological-evaluation-of-the-aqueous-whole-plant-extract-of-aerva-lanata-l-juss-ex-schult-amaranthaceae
#7
Kayode S Omotoso, Flora R Aigbe, Olanrewaju A Salako, Micah C Chijioke, Oluwafunmilayo O Adeyemi
ETHNOPHARMACOLOGICAL RELEVANCE: Aerva lanata (L.) of the family Amaranthaceae is a Nigerian medicinal plant used traditionally for the management of lithiasis, headache, renal disorder, haematemesis, bronchitis, nasal bleeding, cough, scorpion stings, fractures and spermatorrhoea. Studies that show the pharmacological basis for some of such uses have been reported. There is, however, no scientific report on its toxicity profile to the best of our knowledge. AIM OF THE STUDY: This study was therefore aimed at investigating the toxicity profile of the aqueous extract of Aerva lanata...
June 28, 2017: Journal of Ethnopharmacology
https://www.readbyqxmd.com/read/28637620/runx1-deficiency-familial-platelet-disorder-with-predisposition-to-myeloid-leukemia-fpdmm
#8
REVIEW
Brigitte Schlegelberger, Paula G Heller
In this review, we discuss disease-causing alterations of RUNT-related transcription factor 1 (RUNX1), a master regulator of hematopoietic differentiation. Familial platelet disorder with predisposition to myeloid leukemia (FPDMM) typically presents with (1) mild to moderate thrombocytopenia with normal-sized platelets; (2) functional platelets defects leading to prolonged bleeding; and (3) an increased risk to develop myelodysplastic syndromes (MDS), acute myeloid leukemia (AML), or T-cell acute lymphoblastic leukemia (T-ALL)...
April 2017: Seminars in Hematology
https://www.readbyqxmd.com/read/28634189/reduced-platelet-count-but-no-major-platelet-function-abnormalities-are-associated-with-loss-of-function-atp-binding-cassette-1-abca1-gene-mutations
#9
Pietro Minuz, Alessandra Meneguzzi, Eti Alessandra Femia, Cristiano Fava, Stefano Calabria, Mariangela Scavone, Donatella Benati, Giovanni Poli, Carlo Zancanaro, Sebastiano Calandra, Tiziano Lucchi, Marco Cattaneo
Loss of function mutations of the the ATP-binding cassette-1 (ABCA1) gene are the cause of Tangier disease (TD) in homozygous subjects and familial HDL deficiency (FHD) in heterozygous subjects. These disorders are characterized by reduced plasma HDL-cholesterol and altered efflux of cholesterol from cells. Previous studies in TD patients and ABCA1(-/-) murine models reported defects in platelet count, morphology and function, but the issue is still controversial. We analysed three subjects with low to very low HDL cholesterol levels due to loss of function mutations of the ABCA1 gene...
June 20, 2017: Clinical Science (1979-)
https://www.readbyqxmd.com/read/28600843/mortality-caused-by-intracranial-bleeding-in-non-severe-hemophilia-a-patients-comment
#10
LETTER
R Patil, K Ghosh, S Shetty
No abstract text is available yet for this article.
June 10, 2017: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/28600043/placenta-associated-pregnancy-complications-in-pregnancies-complicated-with-placenta-previa
#11
Yael Baumfeld, Reli Herskovitz, Zehavi Bar Niv, Salvatore Andrea Mastrolia, Adi Y Weintraub
OBJECTIVES: The purpose of our study was to examine the hypothesis that pregnancies complicated with placenta previa have an increased risk of placental insufficiency associated pregnancy complications (IUGR, preeclampsia, placental abruption and perinatal mortality). MATERIALS AND METHODS: Our study included all deliveries that occurred at Soroka University Medical Center (Beer Sheva, Israel) between January 1998 and December 2013. Of them 1,249 were complicated by placenta previa and represented our study group...
June 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28583924/congenital-hypofibrinogenaemia-a-presymptomatic-detection-of-an-extremely-rare-bleeding-disorder-in-preterm-twins
#12
Catherine Mary Breen, Muhammad I Riazat, Naomi McCallion, Michael A Boyle
Twenty-eight-week-old preterm monochorionic-diamniotic twins were admitted to the neonatal intensive care unit secondary to low birth weight and mild respiratory distress syndrome. A low fibrinogen level of less than 0.5 g/L was detected following an abnormal full blood count. They required fibrinogen transfusions until 32 weeks corrected gestation to maintain adequate fibrinogen levels. Parental screening revealed that their mother had a previously undiagnosed hypofibrinogenaemia. Of note, her only symptom was menorrhagia...
June 5, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28581691/recombinant-factor%C3%A2-xiii-prophylaxis-is-safe-and-effective-in-young-children-with-congenital-factor-xiii-a-deficiency-international-phase%C3%A2-3b-trial-results
#13
B A Kerlin, A Inbal, A Will, M Williams, M-L Garly, L Jacobsen, S L Kearney
Essentials Prophylaxis is the standard of care for congenital factor XIII-A (FXIII-A) deficiency. Six children with FXIII-A deficiency received once-monthly prophylaxis with recombinant FXIII-A. Prophylaxis was well tolerated and no anti-FXIII antibodies were detected. Prophylaxis was effective with an annualized bleeding rate of zero. SUMMARY: Background Factor XIII deficiency is a rare, severe congenital bleeding disorder. Monthly prophylaxis with recombinant FXIII A-Subunit (rFXIII) has demonstrated favorable safety and efficacy in patients aged ≥ 6 years, and may similarly benefit younger children...
June 5, 2017: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/28555414/germline-etv6-mutations-and-predisposition-to-hematological-malignancies
#14
REVIEW
Simone Feurstein, Lucy A Godley
Patients with thrombocytopenia 5 have an autosomal dominant disorder of decreased platelet number with tendency to bleed, usually presenting in childhood, and have been found to have germline mutations in ETV6, which encodes a master hematopoietic transcription factor. Some patients who present similarly have inherited mutations in RUNX1 or ANKRD26. All three germline syndromes are also associated with a predisposition to myelodysplastic syndrome (MDS) and acute leukemia (AL). Since the first description of germline ETV6 mutations, 18 families have been reported...
August 2017: International Journal of Hematology
https://www.readbyqxmd.com/read/28536800/causes-and-preventive-measures-of-symptomatic-spinal-epidural-haematoma-after-spinal-surgery
#15
Xiao-Jun Zeng, Wei Wang, Zhou Zhao, Ming Li
STUDY DESIGN: This was a retrospective study to evaluate clinical characteristics of patients who developed symptomatic spinal epidural haematoma (SSEH) after spinal surgery. OBJECTIVE: The objective was to determine clinical parameters associated with the development of SSEH after spinal surgery, and to discuss clinical management and possible preventive measures. Although the incidence rate of SSEH is low, the neurological sequelae are devastating. There are limited reports which identify risk factors for SSEH because of the rarity of the condition...
May 24, 2017: International Orthopaedics
https://www.readbyqxmd.com/read/28536718/molecular-and-clinical-profile-of-vwd-in-a-large-cohort-of-chinese-population-application-of-next-generation-sequencing-and-cnvplex-%C3%A2-technique
#16
Qian Liang, Huanhuan Qin, Qiulan Ding, Xiaoling Xie, Runhui Wu, Hongli Wang, Yiqun Hu, Xuefeng Wang
Von Willebrand disease (VWD), the most common inherited bleeding disorder, is characterised by a variable bleeding tendency, heterogeneous laboratory phenotype and race specific distribution of mutations. The present study aimed to determine the correlation of genotype and phenotype in 200 Chinese individuals from 90 unrelated families with VWD. Next generation sequencing (NGS) of the whole coding VWF, copy number analysis of VWF by CNVplex(®) technique as well as a comprehensive phenotypic assessment were carried out in all index patients (IPs)...
July 26, 2017: Thrombosis and Haemostasis
https://www.readbyqxmd.com/read/28512017/a-case-of-autoimmune-severe-acquired-von-willebrand-syndrome-type-3-like
#17
Chakri Gavva, Prapti Patel, Yu-Min Shen, Eugene Frenkel, Ravi Sarode
Von Willebrand disease (VWD) is the most common congenital bleeding disorder and is due to quantitative or qualitative defects of von Willebrand factor (VWF). Acquired defects of VWF, termed acquired von Willebrand syndrome (AVWS), are due to a host of different mechanisms. Autoantibody-mediated AVWS may be associated with lymphoproliferative or immunological disorders, such as systemic lupus erythematosus (SLE). A large majority of AVWS cases are type 1 or type 2A-like and patients tend to have a mild to moderate bleeding tendency...
April 27, 2017: Transfusion and Apheresis Science
https://www.readbyqxmd.com/read/28499509/ten-year-study-of-postoperative-complications-following-dental-extractions-in-patients-with-inherited-bleeding-disorders
#18
J-T Hsieh, K Klein, M Batstone
Dental extractions challenge the body's haemostatic mechanism. Postoperative bleeding from dental extraction can be prolonged, or even life threatening in patients with inherited bleeding disorders. Pre- and postoperative clotting factor replacements or systemic desmopressin (ddAVP) have been advocated at our institution to prevent bleeding complications in these patients. This study aimed to assess the postoperative bleeding rate in patients with inherited bleeding disorders that underwent dental extractions at our institution between 2003 and 2012...
September 2017: International Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/28485064/revisits-after-adenotonsillectomy-in-children-with-sleep-disordered-breathing-a-retrospective-single-institution-study
#19
I-S Chang, K-T Kang, C-C Tseng, W-C Weng, T-Y Hsiao, P-L Lee, W-C Hsu
OBJECTIVE: To investigate emergency room (ER) revisits and hospital readmissions following adenotonsillectomy (T&A) in children with sleep-disordered breathing (SDB), and correlations between SDB severity and ER revisits. DESIGN: Retrospective chart review study. SETTING: Tertiary referral centre. PARTICIPANT: 610 consecutive children underwent T&A for treating SDB. MAIN OUTCOME MEASURES: Sleep-disordered breathing severity was defined according to the apnoea-hypopnoea index (AHI) (primary snoring = AHI < 1; mild = AHI 1-5; moderate = AHI 5-10; and severe = AHI > 10)...
May 9, 2017: Clinical Otolaryngology
https://www.readbyqxmd.com/read/28447419/controversies-in-the-diagnosis-of-type-1-von-willebrand-disease
#20
REVIEW
M L Bowman, P D James
von Willebrand disease (VWD) is the most common bleeding disorder. Type 1 VWD represents the majority of cases and results from a partial quantitative deficiency of von Willebrand factor (VWF). The diagnosis of Type 1 VWD presents many challenges, despite there being three established diagnostic criteria: a personal history of mucocutaneous bleeding, a family history and low VWF levels. These criteria do not always coexist, and there is great overlap of clinical phenotypes and laboratory parameters between healthy individuals and those with VWD...
May 2017: International Journal of Laboratory Hematology
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