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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
#1
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)...
May 24, 2017: Thrombosis and Haemostasis
https://www.readbyqxmd.com/read/28530107/leptomeningeal-carcinomatosis-in-a-young-patient-with-obstructive-colorectal-signet-ring-cell-adenocarcinoma
#2
Alejandro Lusilla, Jorge de Tomás
We present the case report of a twenty-five-year-old Moroccan male patient who suffered from leptomeningeal carcinomatosis related to a signet-ring cell carcinoma of the rectum. He presented to the emergency department with abdominal pain, constipation, weight loss and rectal bleeding. The rectal examination showed a rectal tumor and a CT scan revealed a large bowel obstruction due to rectal diffuse thickening. An emergency transverse colostomy was performed, with a rectal biopsy and a cytological sample collection...
May 22, 2017: Revista Española de Enfermedades Digestivas
https://www.readbyqxmd.com/read/28512017/a-case-of-autoimmune-severe-acquired-von-willebrand-syndrome-type-3-like
#3
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/28504079/a-novel-nonsense-nbeal2-gene-mutation-causing-severe-bleeding-in-a-patient-with-gray-platelet-syndrome
#4
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/28499153/safety-and-efficacy-of-warfarin-in-patients-with-moderate-thrombocytopenia
#5
Y F Lai, D Y T Goh, S Y How, K Y Lee, V W P Tham, M C Kong, C W Tan, H J Ng
INTRODUCTION: Patients with moderate thrombocytopenia and comorbidities requiring anticoagulation are currently sub-optimally treated because of bleeding concerns. Guidance on anticoagulating such patients is currently lacking because of limited data on safety and efficacy of anticoagulation in such patients. METHODS: This retrospective study compared the incidence of bleeding and thrombosis in a cohort of warfarinized patients with sustained platelet counts below 100×10(9)/L against a cohort with normal platelet counts (>140×10(9)/L)...
May 6, 2017: Thrombosis Research
https://www.readbyqxmd.com/read/28498562/effect-of-valve-design-and-anticoagulation-strategy-on-30-day-clinical-outcomes-in-transcatheter-aortic-valve-replacement-results-from-the-bravo-3-randomized-trial
#6
Axel Linke, Jaya Chandrasekhar, Samantha Sartori, Thierry Lefevre, Eric van Belle, Ulrich Schaefer, Didier Tchetche, Gennaro Sardella, John Webb, Antonio Colombo, Stephan Windecker, Birgit Vogel, Serdar Farhan, Sabato Sorrentino, Madhav Sharma, Clayton Snyder, Anita Asgar, Nicolas Dumonteil, Corrado Tamburino, Ulrich Hink, Roberto Violini, Pieter Stella, Debra Bernstein, Efthymios Deliargyris, Christian Hengstenberg, Usman Baber, Roxana Mehran, Prodromos Anthopoulos, George Dangas
BACKGROUND: Selection of valve and procedural anticoagulant type may impact bleeding and vascular complications in transfemoral transcatheter aortic valve replacement (TAVR). We sought to compare outcomes by valve [balloon expandable (BE) or non-BE] and anticoagulant [bivalirudin vs. unfractionated heparin (UFH)] type from the BRAVO-3 trial. METHODS: BRAVO-3 was a randomized multicenter trial included 500 BE-TAVR and 282 non-BE TAVR patients, randomized to bivalirudin vs...
May 12, 2017: Catheterization and Cardiovascular Interventions
https://www.readbyqxmd.com/read/28486277/evaluation-of-recombinant-factor-viii-fc-eloctate-activity-by-thromboelastometry-in-a-multicenter-phase-3-clinical-trial-and-correlation-with-bleeding-phenotype
#7
Frank Driessler, Maricel G Miguelino, Glenn F Pierce, Robert T Peters, Jurg M Sommer
: The aim of this study was to compare the hemostatic efficacy of recombinant factor VIII Fc (rFVIIIFc) (Eloctate) and Advate by ex-vivo rotation thromboelastometry (ROTEM) of whole blood and to explore potential ROTEM parameters that may be more predictive of a patient's bleeding tendency than plasma FVIII activity. Thirteen clinical sites were selected to perform ROTEM on freshly collected blood samples from 44 patients in the phase 3 study for rFVIIIFc, including 16 patients undergoing sequential pharmacokinetic assessment of Advate and rFVIIIFc...
May 8, 2017: Blood Coagulation & Fibrinolysis: An International Journal in Haemostasis and Thrombosis
https://www.readbyqxmd.com/read/28473950/unusual-metastasis-of-papillary-thyroid-cancer-to-the-thoracic-spine-a-case-report-new-surgical-management-proposal-and-review-of-the-literature
#8
Ariel Takayanagi, Omid Hariri, Hammad Ghanchi, Dan E Miulli, Javed Siddiqi, Frank Vrionis, Farbod Asgarzadie
Papillary thyroid carcinoma (PTC) is significantly more common than follicular thyroid carcinoma (FTC), yet FTC has a much higher tendency to metastasize to the spinal column. We present a rare case of a metastatic thoracic spinal column lesion originating from the PTC. Thyroid carcinoma is known to be highly vascular with a significant tendency to hemorrhage during surgical resection. This increased tendency to hemorrhage leads to unanticipated intraoperative risks when the type of cancer is not diagnosed before surgical resection...
April 3, 2017: Curēus
https://www.readbyqxmd.com/read/28470638/-management-of-massive-intraoperative-blood-loss-using-a-case-study
#9
Andreas Pape, Angelo Ippolito, Joanna Warszawska, Florian Raimann, Kai Zacharowski
Massive intraoperative bleeding is a major and potentially life-threatening complication during surgical procedures. The lethal triade of hemorrhagic shock with metabolic acidosis, hypothermia and coagulopathy enhances bleeding tendency. Avoiding this vitious circle requires a well-structured and standardized procedure. Primary goals include the maintenance of adequate tissue oxygenation, restauration of proper coagulatory function, normothermia and homeostasis of acid-base and electrolyte balance. In the present article, these therapeutic goals and their pathophysiological background are illustrated with a clinical case example...
April 2017: Anästhesiologie, Intensivmedizin, Notfallmedizin, Schmerztherapie: AINS
https://www.readbyqxmd.com/read/28458581/insertion-of-intrauterine-devices-after-cesarean-section-a-systematic-review-update
#10
REVIEW
Norman D Goldstuck, Petrus S Steyn
BACKGROUND: Women who undergo a cesarean section (CS) are in a unique position to receive the intrauterine contraceptive device (IUD). They may also want to use the IUD as a long-acting reversible contraceptive method provided the IUD is safe and effective in the presence of a CS scar. SEARCH STRATEGY: We researched and reviewed the MEDLINE, POPLINE, Google Scholar, and ClinicalTrials.gov databases from January 1968 to June 2015. SELECTION CRITERIA: Eligible studies reported event rates or practical problems relating to IUD usage in post-placental or interval insertion (>90 days) after CS...
2017: International Journal of Women's Health
https://www.readbyqxmd.com/read/28447100/f7-gene-variants-modulate-protein-levels-in-a-large-cohort-of-patients-with-factor-vii-deficiency-results-from-a-genotype-phenotype-study
#11
Gabriele Quintavalle, Federica Riccardi, Gianna Franca Rivolta, Davide Martorana, Caterina Di Perna, Antonio Percesepe, Annarita Tagliaferri
Congenital factor VII (FVII) deficiency is a rare bleeding disorder caused by mutations in F7 gene with autosomal recessive inheritance. A clinical heterogeneity with poor correlation with FVII:C levels has been described. It was the objective of this study to identify genetic defects and to evaluate their relationships with phenotype in a large cohort of patients with FVII:C<50 %. One hundred twenty-three probands were genotyped for F7 mutations and three polymorphic variants and classified according to recently published clinical scores...
April 27, 2017: Thrombosis and Haemostasis
https://www.readbyqxmd.com/read/28445267/different-clinical-presentations-of-choledochal-cyst-among-infants-and-older-children-a-10-year-retrospective-study
#12
Davoud Badebarin, Saeid Aslanabadi, Amir Teimouri-Dereshki, Masoud Jamshidi, Tuba Tarverdizadeh, Kaveh Shad, Kamyar Ghabili, Ghazal Khajir
Choledochal cyst is a rare and often benign congenital cystic dilation throughout the biliary tree. Due to the benign nature of choledochal cyst among early-diagnosed patients, the clinical assumption and diagnosis seem to be of utmost significance. Therefore, we sought to assess different clinical manifestations of choledochal cyst and relevant laboratory findings in infants and older children.Retrospectively, medical records of all patients with the diagnosis of choledochal cyst between 2005 and 2015 were reviewed...
April 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28443283/vascular-access-site-for-renal-replacement-therapy-in-acute-kidney-injury-a-post-hoc-analysis-of-the-atn-study
#13
Yue-Harn Ng, Kavitha Ganta, Herbert Davis, V Shane Pankratz, Mark Unruh
BACKGROUND: Acute kidney injury requiring renal replacement therapy (RRT) in the intensive care unit portends a poor prognosis. The decisions regarding dialysis catheter placement is based mainly on physician discretion with little evidence to support the choice of dialysis catheter location. METHODS: The Veterans Affairs/National Institutes of Health Acute Renal Failure Trial Network Study was a multicenter, prospective, randomized trial of intensive vs. less intensive RRT in critically ill patients with AKI...
2017: Frontiers in Medicine
https://www.readbyqxmd.com/read/28429865/differential-effects-of-bleeds-on-the-development-of-arthropathy-basic-and-applied-issues
#14
REVIEW
L F D van Vulpen, S C Mastbergen, F P J G Lafeber, R E G Schutgens
Haemophilia is characterized by a spontaneous bleeding tendency, affecting mainly the synovial joints. Recurrent joint bleeds induce a cascade of inflammatory as well as degenerative processes injuring synovium, cartilage and bone. These processes affect each other and may occur in parallel and/or sequentially. Clinically, the effects of joint bleeds are heterogeneous. A marked variability in joint damage is observed in patients with a similar bleeding history. Also late stage effects differ with some patients developing chronic synovitis, and others suffering from osteochondral degeneration called haemophilic arthropathy...
April 21, 2017: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/28422416/clot-wave-analysis-and-thromboembolic-score-in-liver-cirrhosis-two-opposing-phenomena
#15
M F Ruberto, O Sorbello, A Civolani, D Barcellona, L Demelia, F Marongiu
INTRODUCTION: Prothrombin time (PT) and activated partial thromboplastin time (aPTT) are abnormal but unreliable in cirrhotic patients to express their risk of bleeding. However, these patients may also suffer from thrombotic episodes. In order to investigate the dynamics of the formation of fibrin, the clot waveform analysis (CWA) of aPTT was studied together with a score for the evaluation of the thromboembolic risk. METHODS: CWA in terms of velocity (1st derivative), acceleration (2nd derivatives) and density (Delta) of aPTT and the Padua Prediction Score (PPS) for venous thromboembolism were studied in 191 cirrhotic patients...
April 19, 2017: International Journal of Laboratory Hematology
https://www.readbyqxmd.com/read/28420841/tranexamic-acid-controlled-chronic-disseminated-intravascular-coagulation-associated-with-aortic-dissection-and-patent-false-lumen-for-three-years
#16
Yodo Gatate, Nobuyuki Masaki, Atsushi Sato, Risako Yasuda, Takayuki Namba, Hirotaka Yada, Akio Kawamura, Takeshi Adachi
The management of chronic disseminated intravascular coagulation (DIC) caused by aortic dissection has not yet been established. Even in cases where surgical correction is performed, therapeutic control of systemic hemorrhaging is still required. We herein report the successful treatment of a case of aortic dissection with a patent false lumen using tranexamic acid for acute exacerbation of chronic DIC. Oral administration of 1,500 mg tranexamic acid per day stabilized the coagulative and fibrinolytic parameters and relieved bleeding tendencies with no side effects...
2017: Internal Medicine
https://www.readbyqxmd.com/read/28419850/overpressure-blast-injury-induced-oxidative-stress-and-neuroinflammation-response-in-rat-frontal-cortex-and-cerebellum
#17
Hale Z Toklu, Zhihui Yang, Sehkar Oktay, Yasemin Sakarya, Nataliya Kirichenko, Michael K Matheny, Judy Muller-Delp, Kevin Strang, Philip J Scarpace, Kevin K W Wang, Nihal Tümer
BACKGROUND & AIM: Overpressure blast-wave induced brain injury (OBI) and its long-term neurological outcome pose significant concerns for military personnel. Our aim is to investigate the mechanism of injury due to OBI. METHODS: Rats were divided into 3 groups: (1) Control, (2) OBI (exposed 30psi peak pressure, 2-2.5ms), (3) Repeated OBI (r-OBI) (three exposures over one-week period). Lung and brain (cortex and cerebellum) tissues were collected at 24h post injury...
April 15, 2017: Behavioural Brain Research
https://www.readbyqxmd.com/read/28416849/-effect-of-mechanical-self-cleaning-of-tongue-coating-on-malodor-in-halitosis-patients-originating-from-tongue-coating
#18
J Wang, L He
OBJECTIVE: To evaluate the malodor level and to explore the effect of mechanical self-cleaning of tongue coating in patients with halitosis originating from tongue coating. METHODS: Ten patients with halitosis originating from tongue coating were enrolled and divided into two groups randomly. The patients in test group received instruction of mechanical cleaning of tongue coating while no such instruction was given to control group. Organoleptic test (OLT) score, volatile sulfide compounds (VSC) value, area of tongue coating (Ta), thickness of tongue coating (Tt) and periodontal condition were recorded at baseline and were repeated at the end of 1 week, 2 weeks, 4 weeks and 8 weeks later...
April 18, 2017: Beijing da Xue Xue Bao. Yi Xue Ban, Journal of Peking University. Health Sciences
https://www.readbyqxmd.com/read/28415757/an-absence-of-platelet-activation-following-thalidomide-treatment-in-vitro-or-in-vivo
#19
Jianlin Qiao, Yulu Wu, Xiaoqing Wu, Yun Liu, Xiaoqian Li, Wen Ju, Kunming Qi, Depeng Li, Elizabeth E Gardiner, Robert K Andrews, Lingyu Zeng, Kailin Xu
Increased risk of thromboembolism and platelet hyperreactivity has been reported in patients receiving thalidomide therapy. Whether thalidomide induces platelet activation directly or through other factors remains unclear. The aim of this study was to evaluate the effect of thalidomide on platelet activation under resting conditions in vitro and in vivo. Isolated human or mouse platelets were treated with different concentrations of thalidomide (10, 50 and 100 μg/ml) for 60 min at 37°C followed by analysis of platelet surface expression of platelet receptors GPIbα, GPVI, αIIbβ3 and P-selectin, and PAC-1 or fibrinogen binding, by flow cytometry and collagen- or ADP-induced platelet aggregation...
March 15, 2017: Oncotarget
https://www.readbyqxmd.com/read/28399723/germline-heterozygous-variants-in-genes-associated-with-familial-hemophagocytic-lymphohistiocytosis-as-a-cause-of-increased-bleeding
#20
Marcus Fager Ferrari, Eva Leinoe, Maria Rossing, Eva Norström, Karin Strandberg, Tobias Steen Sejersen, Klaus Qvortrup, Eva Zetterberg
Familial hemophagocytic lymphohistiocytosis (FHL) is caused by biallelic variants in genes regulating granule secretion in cytotoxic lymphocytes. In FHL3-5, the affected genes UNC13D, STX11 and STXBP2 have further been shown to regulate the secretion of platelet granules, giving rise to compromised platelet function. Therefore, we aimed to investigate platelet degranulation in patients heterozygous for variants in UNC13D, STX11 and STXBP2. During the work-up of patients referred to the Coagulation Unit, Skåne University Hospital, Malmö, Sweden and the Department of Hematology, Rigshospitalet, Copenhagen, Denmark due to bleeding tendencies, 12 patients harboring heterozygous variants in UNC13D, STX11 or STXBP2 were identified using targeted whole exome sequencing...
April 11, 2017: Platelets
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