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https://www.readbyqxmd.com/read/28527173/gaucher-disease-presenting-in-an-adult-with-intracerebral-bleed
#1
Sandeep Nemani, Bhumi Agrawal, Sumita Danda, Biju George
Gaucher disease (GD) is the most common lysosomal storage disorder, caused by deficiency of acid beta glucosidase. GD usually presents in children but occasional cases can present in adulthood. Here we report a case of type I GD in a 37 year old female who presented with intracerebral bleed due to long standing thrombocytopenia. She underwent splenectomy in view of limited resources for enzyme replacement therapy. With splenectomy her platelet counts normalised and neurological status also improved.
April 2017: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/28525329/thromboelastographic-profile-of-goat-blood-after-the-experimental-injury-of-the-femoral-artery-and-use-of-quikclot-gauze-and-celox-gauze-dressings
#2
P Sobiech, Z Adamiak, P Holak, P Jastrzębski, J Rogowski, M Brzeziński, K Bury, M Jałyński, W Baumgartner
The aim of this study was to evaluate the suitability of thromboelastometry for the analysis of blood test results in goats after the use of hemostatic dressings to control massive bleeding. The study was carried out on 12 goats, 6 animals in each of two subgroups. In all experimental animals incision of the femoral artery was performed, and bleeding was controlled with QuikClot gauze in the first group and Celox gauze in the second group. Dressings were applied for 60 minutes. Blood samples for thromboelastometry were collected from the jugular vein before the incision and 60 min after the application of a dressing...
March 28, 2017: Polish Journal of Veterinary Sciences
https://www.readbyqxmd.com/read/28520207/comparison-of-f13a1-gene-mutations-in-73-patients-treated-with-recombinant-fxiii-a2
#3
V Ivaškevičius, A Biswas, M-L Garly, J Oldenburg
INTRODUCTION: Congenital factor XIII (FXIII) deficiency is a rare, autosomal recessive bleeding disorder usually caused by mutations in the F13A1 gene that produce a severe quantitative (type I) deficiency of the FXIII-A subunit. AIM: To determine the genotypes of patients with severe FXIII-A deficiency treated with recombinant FXIII-A subunit (rFXIII-A2 ) participating in three international efficacy and safety trials. METHODS: We determined the genotypes of 73 patients in total; 32 had already undergone genotype analysis and were known to carry F13A1 mutations that have been previously reported in the literature...
May 2017: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/28515509/anti-nuclear-cytoplasmic-antibody-associated-vasculitis-a-probable-adverse-effect-of-sofosbuvir-treatment-in-chronic-hepatitis-c-patients
#4
Youssef K Ahmad, Salwa Tawfeek, Mohamed Sharaf-Eldin, Hassan E Elbatea, Abdelrahman Kobtan, Ferial El-Kalla, Rehab Badawi, Sherief Abd-Elsalam
Background: Egypt has the largest hepatitis C virus (HCV) epidemic worldwide. Sofosbuvir is an antiviral drug acting by inhibition of the HCV NS5B polymerase. It has shown high efficacy in combination with several other drugs and has a low reported rate of side effects. Objective: The aim of this prospective cohort study was to assess the safety of sofosbuvir-based treatment regimens used to treat chronic hepatitis C infections and to detect any side effects of sofosbuvir not previously reported. Methods: We studied treatment side effects in 3,000 patients with chronic HCV infection treated with sofosbuvir and ribavirin for 24 weeks or treated by pegylated interferon, sofosbuvir, and ribavirin triple therapy for 12 weeks...
April 2017: Hospital Pharmacy
https://www.readbyqxmd.com/read/28514344/-erbium-laser-application-for-oral-surgery-in-patients-with-platelet-hemostatic-disorders
#5
E V Makarova, S V Tarasenko, A L Melikyan, A V Ponomarenko
Hemostatic disorders are typically associated with prolonged bleeding after or during surgical procedures. The aim of the study was to increase the efficiency of oral surgery in these patients using erbium laser. Selected 46 patients receiving oral surgery were randomly divided in 2 groups: 43 patients with thrombocytopenia, trombocytemia and other platelet disorders treated with erbium laser and a control group of 43 patients without concomitant pathology determined for conventional surgical treatment. No postoperative bleeding was seen in group 1...
2017: Stomatologii︠a︡
https://www.readbyqxmd.com/read/28512563/acquired-von-willebrand-syndrome-associated-to-secondary-igm-mgus-emerging-after-autologous-stem-cell-transplantation-for-al-amyloidosis
#6
Hina Qamar, Adrienne Lee, Karen Valentine, Leslie Skeith, Victor H Jimenez-Zepeda
Acquired von Willebrand syndrome (AVWS) is a rare hemorrhagic disorder that occurs in patients with no prior personal or family history of bleeding. Here, we describe a case of AVWS occurring after autologous stem cell transplantation (ASCT). Interestingly, AVWS developed after bortezomib-based induction and conditioning regimens. Recent evidence suggests that the proximity of the bortezomib therapy to the collection of stem cells with consequent depletion of regulatory T cells after the conditioning regimen could explain some of the unusual autoimmune complications reported in patients receiving bortezomib prior to ASCT...
2017: Mediterranean Journal of Hematology and Infectious Diseases
https://www.readbyqxmd.com/read/28512017/a-case-of-autoimmune-severe-acquired-von-willebrand-syndrome-type-3-like
#7
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/28509761/dabigatran-in-nonvalvular-atrial-fibrillation-from-clinical-trials-to-real-life-experience
#8
Nicola Mumoli, Daniela Mastroiacovo, Eleonora Tamborini-Permunian, Josè Vitale, Matteo Giorgi-Pierfranceschi, Marco Cei, Francesco Dentali
: Atrial fibrillation is the most common arrhythmia in over-midlife patients. In addition to systolic heart failure, cerebral thromboembolism represents the most dramatic complication of this rhythm disorder, contributing to morbidity and mortality. Traditionally, anticoagulation has been considered the main strategy in preventing stroke and systemic embolism in atrial fibrillation patients and vitamin K-dependent antagonists have been widely used in clinical practice. Recently, the development of direct oral anticoagulants has certainly improved the management of this disease, providing, for the first time, the opportunity to go beyond vitamin K-dependent antagonists limits...
July 2017: Journal of Cardiovascular Medicine
https://www.readbyqxmd.com/read/28508982/renal-hemorrhage-caused-by-acquired-inhibitors-to-coagulation-factors-viii-and-v-in-a-hemodialysis-patient
#9
Naoya Niwa, Tadashi Yoshida, Ryuichi Mizuno, Mototsugu Oya, Matsuhiko Hayashi
Acquired coagulation factor deficiency is a rare bleeding disorder caused by the inhibitors to coagulation factors. We report a case of an elderly hemodialysis patient who presented with the intermittent hematuria and anemia, associated with the prolonged activated partial thromboplastin time and prothrombin time. Laboratory examination revealed undetectable factor VIII activity, decreased factor V activity, and the presence of inhibitors to these coagulation factors. The patient was diagnosed to have inhibitors to coagulation factors VIII and V simultaneously...
November 2016: CEN Case Reports
https://www.readbyqxmd.com/read/28504079/a-novel-nonsense-nbeal2-gene-mutation-causing-severe-bleeding-in-a-patient-with-gray-platelet-syndrome
#10
Lijuan Cao, Jian Su, Jiaming Li, Ziqiang Yu, Xia Bai, Zhaoyue Wang, Lijun Xia, Changgeng Ruan
Gray platelet syndrome (GPS) is a rare, inherited bleeding disorder characterized by the defect of platelet α-granule. Up to date, these are only four studies identifying NBEAL2 gene correlated with GPS. In the current report, we present a Chinese GPS patient who had severe bleeding tendency, abnormalities of platelet functions, and absence of platelet α-granules. Genomic DNA sequencing for the patient identified a nonsense mutation (g.27713C>A) of NBEAL2 gene (g.NG_031914.1) resulting in a premature protein (p...
May 15, 2017: Platelets
https://www.readbyqxmd.com/read/28503284/arteriovenous-malformations-of-the-colon-a-report-of-two-cases-and-review-of-the-literature
#11
Ghodratollah Maddah, Abbas Abdollahi, Omid Rouhbakhshfar, Shirin Taraz Jamshidi, Masoumeh Hassanpour
BACKGROUND: Arteriovenous malformations are one of the most common vascular disorders of the colon. Vascular disorders present as painless, high-volume rectal bleeding. CASE PRESENTATION: This study elucidates two rare cases of vascular disorders that are diagnosed as angiodysplasia of the left colon and cavernous hemangioma of the colon and rectum. The chief complaint in two patients was rectorrhagia. The patients who were diagnosed of ulcerative colitis were treated with sulfadiazine and prednisone...
2017: Caspian Journal of Internal Medicine
https://www.readbyqxmd.com/read/28503122/thrombosis-in-inherited-fibrinogen-disorders
#12
REVIEW
Wolfgang Korte, Man-Chiu Poon, Alfonso Iorio, Michael Makris
Although inherited fibrinogen disorders (IFD) are primarily considered to be bleeding disorders, they are associated with a higher thrombotic complication risk than defects in other clotting factors. Managing IFD patients with thrombosis is challenging as anticoagulant treatment may exacerbate the underlying bleeding risk which can be life-threatening. Due to the low prevalence of IFD, there is little information on pathophysiology or optimal treatment of thrombosis in these patients. We searched the literature for cases of thrombosis among IFD patients and identified a total of 128 patient reports...
April 2017: Transfusion Medicine and Hemotherapy
https://www.readbyqxmd.com/read/28502562/grade-1-spetzler-and-martin-cerebral-ruptured-arteriovenous-malformations-treated-by-microsurgery-poor-functional-outcome-is-related-to-injury-from-haemorrhage
#13
R Aboukaïs, M Quidet, M Baroncini, P Bourgeois, X Leclerc, M Vinchon, J-P Lejeune
INTRODUCTION: Ruptured arteriovenous malformations (rAVM) are life-threatening diseases. OBJECTIVE: To evaluate the outcome of patients with grade 1 SPM rAVM after microsurgical treatment. MATERIALS AND METHOD: We retrospectively included 64 consecutive operated patients with a grade 1 SPM rAVM in our institution between 2002 and 2012. Complications related to the surgical procedure were recorded. All patients were re-evaluated 3months after treatment using the modified Rankin Scale score (mRS)...
May 11, 2017: Neuro-Chirurgie
https://www.readbyqxmd.com/read/28501971/electrolyte-and-acid-base-disturbances-in-end-stage-liver-disease-a-physiopathological-approach
#14
REVIEW
José Víctor Jiménez, Diego Luis Carrillo-Pérez, Rodrigo Rosado-Canto, Ignacio García-Juárez, Aldo Torre, David Kershenobich, Eduardo Carrillo-Maravilla
Electrolyte and acid-base disturbances are frequent in patients with end-stage liver disease; the underlying physiopathological mechanisms are often complex and represent a diagnostic and therapeutic challenge to the physician. Usually, these disorders do not develop in compensated cirrhotic patients, but with the onset of the classic complications of cirrhosis such as ascites, renal failure, spontaneous bacterial peritonitis and variceal bleeding, multiple electrolyte, and acid-base disturbances emerge. Hyponatremia parallels ascites formation and is a well-known trigger of hepatic encephalopathy; its management in this particular population poses a risky challenge due to the high susceptibility of cirrhotic patients to osmotic demyelination...
May 13, 2017: Digestive Diseases and Sciences
https://www.readbyqxmd.com/read/28501326/management-of-platelet-disorders-and-platelet-transfusions-in-icu-patients
#15
REVIEW
Neil Blumberg, Jill M Cholette, Amy E Schmidt, Richard P Phipps, Sherry L Spinelli, Joanna M Heal, Anthony P Pietropaoli, Majed A Refaai, Patricia J Sime
Thrombocytopenia or receipt of antiplatelet drugs, with or without bleeding, is a common indication for platelet transfusions in the ICU. However, there is almost no evidence base for these practices other than expert opinion. Also common is use of platelet transfusions prior to invasive procedures or surgery in patients with thrombocytopenia. Likewise, there is no high-quality evidence that such practices are efficacious or safe. Recently, it has become clear that, whether causal or not, patients receiving prophylactic platelet transfusions experience high rates of nosocomial infection, thrombosis, organ failure, and mortality, which increase the urgency and need for randomized trials to assess these practices...
May 4, 2017: Transfusion Medicine Reviews
https://www.readbyqxmd.com/read/28499509/ten-year-study-of-postoperative-complications-following-dental-extractions-in-patients-with-inherited-bleeding-disorders
#16
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...
May 9, 2017: International Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/28497841/effect-of-fluid-resuscitation-with-balanced-solutions-on-platelets-in-vitro-simulation-of-20-volume-substitution
#17
Łukasz J Krzych, Piotr F Czempik
BACKGROUND: Fluid resuscitation in massive bleeding may cause coagulation disorders by dilution of platelets and clotting factors or by the definite influence on theirfunction. The aim of this study was to investigate the effects of balanced crystalloid and colloid solutions on platelets (PLT) in vitro using complex assessment of coagulation. METHODS: The study group was comprised of 32 American Society of Anesthesiologists physical status class I male volunteers, aged 21-35 (29 ± 4) years, weighting 59-103 (81...
May 12, 2017: Cardiology Journal
https://www.readbyqxmd.com/read/28496951/can-aptameric-ligands-specific-to-plasma-coagulation-factor-vii-bind-the-recombinant-form-with-high-affinity-affinity-measurement-by-fluorescence-method
#18
Maryam Tabarzad, Marzieh Jafari, Nastaran Nafissi-Varcheh
BACKGROUND: Among diverse protein purification systems, affinity chromatography is the most attractive one in the purification process of coagulation factors. Coagulation factor VII is a plasma serine protease that has a significant role in natural human hemostasis and its recombinant form such as AryoSeven(™), has been applied in clinical treatment of bleeding disorders. Immunoaffinity chromatography is the purification method of choice that is currently applied in the development of coagulation factor VIIa products...
April 2017: Avicenna Journal of Medical Biotechnology
https://www.readbyqxmd.com/read/28496540/recombinant-factor-viia-use-for-endoscopic-retrograde-cholangiopancreatography-with-sphincterotomy-in-a-patient-with-choledocholithiasis-and-unusual-coagulopathy
#19
Molham Abdulsamad, Pavithra Reddy, Suvarna Guvvala, Anil Dev
Endoscopic retrograde cholangiopancreatography (ERCP) is a procedure that combines the use of endoscopy and fluoroscopy to diagnose and treat pancreaticobiliary disorders. The risks of ERCP include pancreatitis, infection, bleeding and perforation. Bleeding during ERCP typically develops after sphincterotomy, hence patients should be screened and tested for coagulopathy before undergoing ERCP. Coagulopathy is a major risk factor for ERCP-related bleeding. Inherited factor VII (FVII) deficiency is a rare autosomal recessive hemorrhagic disorder that can lead to significant coagulopathy and severe bleeding if not appropriately recognized and treated preoperatively...
April 2017: Gastroenterology Research
https://www.readbyqxmd.com/read/28494001/partial-spleen-embolization-reduces-the-risk-of-portal-hypertension-induced-upper-gastrointestinal-bleeding-in-patients-not-eligible-for-tips-implantation
#20
Matthias Buechter, Alisan Kahraman, Paul Manka, Guido Gerken, Alexander Dechêne, Ali Canbay, Axel Wetter, Lale Umutlu, Jens M Theysohn
INTRODUCTION: Upper gastrointestinal bleeding (UGIB) is a severe and life-threatening complication among patients with portal hypertension (PH). Covered transjugular intrahepatic portosystemic shunt (TIPS) is the treatment of choice for patients with refractory or recurrent UGIB despite pharmacological and endoscopic therapy. In some patients, TIPS implantation is not possible due to co-morbidity or vascular disorders. Spleen embolization (SE) may be a promising alternative in this setting...
2017: PloS One
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