keyword
MENU ▼
Read by QxMD icon Read
search

Hemophilia A

keyword
https://www.readbyqxmd.com/read/29145340/open-repair-of-intraoperative-popliteal-artery-injury-during-total-knee-arthroplasty-in-a-patient-with-severe-hemophilia-a-a-case-report-and-literature-review
#1
Bin Feng, Ke Xiao, Jiang Shao, Yu Fan, Xisheng Weng
RATIONALE: Arterial injuries during total knee arthroplasty (TKA) though rare may occur. Hemophilia may further challenge the management of such injury. PATIENT CONCERNS: A 48-year-old male patient with severe hemophilia type A and stiff knee arthropathy underwent bilateral TKAs. Left popliteal artery injury was detected at the end of the left TKA. DIAGNOSES: Urgent angiography confirmed the diagnosis of the left popliteal artery transection...
November 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29144625/acquired-hemophilia-presenting-as-gross-hematuria-following-kidney-stone-a-case-report-and-review-of-the-literature
#2
Max Schmidt-Bowman, Lael Reinstatler, Eric P Raffin, Joseph E Yared, John D Seigne, Einar F Sverrisson
A rare condition in itself, acquired hemophilia A, seldom presents as isolated gross hematuria. It is a serious condition with a high mortality rate and thus clinical suspicion followed by prompt diagnosis is imperative (1). In fact, only 8 cases of such presentation of this condition have been reported thus far in the literature. Of these, none describe the initial presentation of hematuria with the inciting event of a kidney stone. We present a case of a 67-year-old man with signs and symptoms of nephrolithiasis accompanied by profuse hematuria, who was subsequently found to have developed expression of factor VIII inhibitor leading to acquired hemophilia A...
November 19, 2017: International Braz J Urol: Official Journal of the Brazilian Society of Urology
https://www.readbyqxmd.com/read/29144254/emicizumab-prophylaxis-overcomes-factor-viii-inhibitors-in-hemophilia-a
#3
Midori Shima
No abstract text is available yet for this article.
November 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/29141317/-study-of-gene-mutation-in-62-hemophilia-a-children
#4
Q Hu, A G Liu, L Q Zhang, A Zhang, Y Q Wang, S M Wang, Y J Lu, X Wang
Objective: To analyze the mutation type of FⅧ gene in children with hemophilia A and to explore the relationship among hemophilia gene mutation spectrum, gene mutation and clinical phenotype. Method: Sixty-two children with hemophilia A from Department of Pediatric Hematology, Tongji Hospital of Tongji Medical College, Huazhong University of Science and Technology between January 2015 and March 2017 were enrolled. All patients were male, aged from 4 months to 7 years and F Ⅷ activity ranged 0.2%-11.0%. Fifty cases had severe, 10 cases had moderate and 2 cases had mild hemophilia A...
November 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/29127625/gene-therapy-for-hemophilia-progress-to-date
#5
John C Chapin, Paul Edward Monahan
Hemophilia is a congenital bleeding disorder that affects nearly half a million individuals worldwide. Joint bleeding and other co-morbidities are a significant source of debilitation for this population. Current therapies are effective but must be given lifelong at regular intervals, are costly, and are available to only about 25% of the hemophilia population living in resource-rich countries. Gene therapy for hemophilia has been in development for three decades and is now entering pivotal-stage clinical trials...
November 10, 2017: BioDrugs: Clinical Immunotherapeutics, Biopharmaceuticals and Gene Therapy
https://www.readbyqxmd.com/read/29126301/coagulation-testing-in-the-core-laboratory
#6
William E Winter, Sherri D Flax, Neil S Harris
Primary hemostasis begins with endothelial injury. VWF, produced by endothelial cells, binds to platelets and links them to subendothelial collagen. Platelet-derived ADP and thromboxane activate non-adhered platelets via their GPIIb/IIIa receptors, allowing these platelets to participate in platelet aggregation. Secondary hemostasis is initiated with the binding of factor VII to extravascular tissue factor (TF). Factors II, VII, IX and X are vitamin K-dependent factors. The role of vitamin K is to assist in the addition of gamma carboxylate groups to glutamic acids in the "GLA" domains of these factors...
November 8, 2017: Laboratory Medicine
https://www.readbyqxmd.com/read/29125443/neurosurgical-management-in-children-with-bleeding-diathesis-auditing-neurological-outcome
#7
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/29123383/internal-consistency-and-item-total-correlation-of-patient-reported-outcome-instruments-and-hemophilia-joint-health-score-v2-1-in-us-adult-people-with-hemophilia-results-from-the-pain-functional-impairment-and-quality-of-life-p-fiq-study
#8
Michael Wang, Katharine Batt, Craig Kessler, Anne Neff, Neeraj N Iyer, David L Cooper, Christine L Kempton
Background: The Pain, Functional Impairment, and Quality of Life study was an observational, cross-sectional assessment of the impact of pain on functional impairment and quality of life in adult people with hemophilia (PWH) of any severity in the USA who experience joint pain and/or bleeding. Objective: To assess internal consistency (IC) and item-total correlation (ITC) of assessment tools used in the Pain, Functional Impairment, and Quality of Life study. Methods: Participants completed 5 patient-reported outcome instruments (EQ-5D-5L with visual analog scale, Brief Pain Inventory v2 Short Form [BPI], International Physical Activity Questionnaire [IPAQ], Short Form 36 Health Survey v2 [SF-36v2], and Hemophilia Activities List [HAL]) and underwent an optional physiotherapist-administered musculoskeletal exam (Hemophilia Joint Health Score v2...
2017: Patient Preference and Adherence
https://www.readbyqxmd.com/read/29119666/estimating-and-interpreting-the-pharmacokinetic-profiles-of-individual-patients-with-hemophilia%C3%A2-a-or-b-using-a-population-pharmacokinetic-approach-communication-from-the-ssc-of-the-isth
#9
A Iorio, V Blanchette, J Blatny, P Collins, K Fischer, E Neufeld
No abstract text is available yet for this article.
October 12, 2017: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/29112188/diagnosis-and-treatment-options-of-acquired-hemophilia-a-single-center-experience
#10
Bożena Sokołowska, Justyna Kozińska, Magdalena Kozioł, Ewa Wąsik-Szczepanek, Dariusz Szczepanek, Marek Hus
No abstract text is available yet for this article.
November 6, 2017: Polish Archives of Internal Medicine
https://www.readbyqxmd.com/read/29109275/engineering-of-a-membrane-triggered-activity-switch-in-coagulation-factor-viia
#11
Anders L Nielsen, Anders B Sorensen, Heidi L Holmberg, Prafull S Gandhi, Johan Karlsson, Jens Buchardt, Kasper Lamberth, Mads Kjelgaard-Hansen, Carsten Dan Ley, Brit B Sørensen, Wolfram Ruf, Ole H Olsen, Henrik Østergaard
Recombinant factor VIIa (FVIIa) variants with increased activity offer the promise to improve the treatment of bleeding episodes in patients with inhibitor-complicated hemophilia. Here, an approach was adopted to enhance the activity of FVIIa by selectively optimizing substrate turnover at the membrane surface. Under physiological conditions, endogenous FVIIa engages its cell-localized cofactor tissue factor (TF), which stimulates activity through membrane-dependent substrate recognition and allosteric effects...
November 6, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29108420/inhibitor-risk-stratification-and-individualized-treatment-in-patients-with-nonsevere-hemophilia-a-a-single-institution-practice-audit
#12
Haowei Linda Sun, Stella Chan, Paul Yenson, Shannon Jackson
Inhibitor risk in nonsevere hemophilia A increases with cumulative factor VIII (FVIII) exposure days and high-risk mutations. A standardized approach to minimize inhibitor risk is warranted. Following establishment of a systematic approach to reduce inhibitor risk in nonsevere hemophilia, we evaluated the uptake of these strategies into clinical practice. All adult males with nonsevere hemophilia A followed by British Columbia Adult Hemophilia Program from 2004 to 2016 were included in this retrospective audit...
January 1, 2017: Clinical and Applied Thrombosis/hemostasis
https://www.readbyqxmd.com/read/29106782/expression-and-assembly-of-largest-foreign-protein-in-chloroplasts-oral-delivery-of-human-fviii-made-in-lettuce-chloroplasts-robustly-suppresses-inhibitor-formation-in-hemophilia-a-mice
#13
Kwang-Chul Kwon, Alexandra Sherman, Wan-Jung Chang, Aditya Kamesh, Moanaro Biswas, Roland W Herzog, Henry Daniell
Inhibitor formation is a serious complication of factor VIII (FVIII) replacement therapy for the X-linked bleeding disorder hemophilia A and occurs in 20-30% of patients. No prophylactic tolerance protocol currently exists. Although we reported oral tolerance induction using FVIII domains expressed in tobacco chloroplasts, significant challenges in clinical advancement include expression of the full-length CTB-FVIII sequence to cover the entire patient population, regardless of individual CD4(+) T cell epitope responses...
November 6, 2017: Plant Biotechnology Journal
https://www.readbyqxmd.com/read/29106404/strategy-to-detect-pre-existing-immunity-to-aav-gene-therapy
#14
L Falese, K Sandza, B Yates, S Triffault, S Gangar, B Long, L Tsuruda, B Carter, C Vettermann, S J Zoog, S Fong
Gene therapy may offer a new treatment option, particularly for patients with severe hemophilia, based on recent research. However, individuals with pre-existing immunity to adeno-associated viruses (AAVs) may be less likely to benefit from AAV vector-based therapies. To study pre-existing AAV5 immunity in humans, we validated two complementary, sensitive, and scalable in vitro assays to detect AAV5 total antibodies and transduction inhibition (TI). Using these two assays, we found that 53% of samples from 100 healthy male individuals were negative in both assays, 18% were positive in both assays, 5% were positive for total antibodies but negative for TI and, of interest, 24% were negative for total antibodies but positive for TI activity, suggesting the presence of non-antibody‒based neutralizing factors in human plasma...
November 6, 2017: Gene Therapy
https://www.readbyqxmd.com/read/29103812/long-term-results-of-total-elbow-arthroplasty-in-patients-with-hemophilia
#15
Lukas Ernstbrunner, Andreas Hingsammer, Mohamed A Imam, Reto Sutter, Brigit Brand, Dominik C Meyer, Karl Wieser
HYPOTHESIS: It was hypothesized that the long-term survivorship and clinical outcome are reasonable, justifying total elbow arthroplasty (TEA) in patients with end-stage hemophilic arthropathy. METHODS: From 2002 to 2012, 13 primary TEAs (Coonrad-Morrey design) were implanted in 9 consecutive patients with an average age of 55 (range, 39-76) years. Type A hemophilia was diagnosed in 7 patients and type B hemophilia in 2 patients. Clinical and radiographic results of all (11 TEAs) but 1 patient were retrospectively analyzed...
November 3, 2017: Journal of Shoulder and Elbow Surgery
https://www.readbyqxmd.com/read/29102549/lipidic-nanoparticles-comprising-of-phosphatidylinositol-mitigate-immunogenicity-and-improve-efficacy-of-recombinant-human-acid-alpha-glucosidase-in-a-murine-model-of-pompe-disease
#16
Jennifer L Schneider, Robert K Dingman, Sathy V Balu-Iyer
Enzyme replacement therapy with recombinant human acid α-glucosidase (rhGAA) is complicated by the formation of anti-rhGAA antibodies, a short circulating half-life, instability in the plasma, and limited uptake into target tissue. Previously, we have demonstrated that phosphatidylinositol (PI) containing liposomes can reduce the immunogenicity and extend plasma survival of Factor VIII (FVIII) in a mouse model of Hemophilia A. In this manuscript we investigate the ability of PI liposomes to be used as a delivery vehicle to overcome the issues that complicate therapy with rhGAA...
November 1, 2017: Journal of Pharmaceutical Sciences
https://www.readbyqxmd.com/read/29099367/dental-management-of-patients-with-inherited-bleeding-disorders-a-multidisciplinary-approach
#17
Hassan Abed, Abdalrahman Ainousa
Bleeding disorders can be inherited or acquired and demonstrate different levels of severity. Dentists may be called on to treat patients who have bleeding disorders such as hemophilia A and von Willebrand disease (vWD). Dental extraction in any patient with clotting factor defects can result in a delayed bleeding episode. Local hemostatic measures provide effective results in a majority of cases but are insufficient in patients with severe hemophilia A and vWD. Therefore, consultation with the patient's hematologist is required to ensure preoperative prophylactic coverage...
November 2017: General Dentistry
https://www.readbyqxmd.com/read/29097507/noninvasive-prenatal-diagnosis-of-single-gene-disorders-by-use-of-droplet-digital-pcr
#18
Joan Camunas-Soler, Hojae Lee, Louanne Hudgins, Susan R Hintz, Yair J Blumenfeld, Yasser Y El-Sayed, Stephen R Quake
BACKGROUND: Prenatal diagnosis in pregnancies at risk of single-gene disorders is currently performed using invasive methods such as chorionic villus sampling and amniocentesis. This is in contrast with screening for common aneuploidies, for which noninvasive methods with a single maternal blood sample have become standard clinical practice. METHODS: We developed a protocol for noninvasive prenatal diagnosis of inherited single-gene disorders using droplet digital PCR from circulating cell-free DNA (cfDNA) in maternal plasma...
November 2, 2017: Clinical Chemistry
https://www.readbyqxmd.com/read/29095762/acquired-hemophilia-with-thrombosis-in-a-cancer-patient-an-unusual-presentation
#19
Senem Maral, Sule Mine Bakanay, Imdat Dilek
: Acquired hemophilia A (AHA) which presents with spontaneous severe intramuscular, mucosal and/or subcutaneous bleeding is a rare bleeding disorder. Even 50% of AHA patients are defined as idiopathic; 10% of cases are related with malignancy. Here, we present a case of AHA in a 43-year-old lady who was diagnosed with malignancy and venous thromboembolism on vena cava 2 years ago. To the best of our knowledge, this is the first report in literature presented with both acquired hemophilia and thrombosis associated with malignancy...
November 1, 2017: Blood Coagulation & Fibrinolysis: An International Journal in Haemostasis and Thrombosis
https://www.readbyqxmd.com/read/29095073/surgical-management-of-haemophilic-pseudotumors-experience-in-a-developing-country
#20
Yu He, Xi Zhou, Haomin Cui, Guixing Qiu, Xisheng Weng, Baozhong Zhang, Yong Liu
AIM: Hemophilic pseudotumors result from repeated episodes of bleeding into bone, subperiosteum, and soft tissue. Since clotting factors became available, uncontrolled perioperative bleeding is a less significant problem for surgeons in developed countries. However, they are more difficult to come by in China. Additionally, patients often have to undergo surgery for giant masses and suffer complications. We wanted to present our experience in the surgical management of hemophilic pseudotumors over a 40-year period...
November 2, 2017: Journal of Investigative Surgery: the Official Journal of the Academy of Surgical Research
keyword
keyword
6654
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"