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https://www.readbyqxmd.com/read/28636076/prevalence-and-impact-of-obesity-in-people-with-haemophilia-review-of-literature-and-expert-discussion-around-implementing-weight-management-guidelines
#1
REVIEW
S Kahan, A Cuker, R F Kushner, J Maahs, M Recht, T Wadden, T Willis, S Majumdar, D Ungar, D Cooper
Obesity affects more than 35% of Americans, increasing the risk of more than 200 comorbid conditions, impaired quality of life and premature mortality. This review aimed to summarize literature published over the past 15 years regarding the prevalence and impact of obesity in people with haemophilia (PWH) and to discuss implementing general guidelines for weight management in the context of the haemophilia comprehensive care team. Although few studies have assessed the effects of obesity on haemophilia-specific outcomes, existing evidence indicates an important impact of weight status on lower extremity joint range of motion and functional disability, with potentially important effects on overall quality of life...
June 21, 2017: Haemophilia: the Official Journal of the World Federation of Hemophilia
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
#2
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/28626212/a-huge-subcutaneous-hematoma-in-an-adult-with-kasabach-merritt-syndrome
#3
Kuan-Lin Wu, Chiung-Ying Liao, Chen-Kuang Chang, Shang-Yun Ho, Yeu-Sheng Tyan, Yuan-Chun Huang
BACKGROUND Kasabach-Merritt syndrome is a potentially fatal disease that consists of hemangioma(s) with thrombocytopenia, microangiopathic hemolytic anemia, and coagulopathy. Extensive hemangiomatosis is rare. We present the radiological features and treatment strategy of a young adult suffering from Kasabach-Merritt syndrome with widespread hemangiomas and an infected huge hematoma in the right thigh. CASE REPORT A 33-year-old Taiwanese male presented with a painful 20-cm mass over his right thigh and gross hematuria for 2 days...
June 19, 2017: American Journal of Case Reports
https://www.readbyqxmd.com/read/28626191/hemophagocytic-lymphohistiocytosis-in-a-fatal-case-of-severe-fever-with-thrombocytopenia-syndrome
#4
Ayako Nakano, Hirohisa Ogawa, Yoshinori Nakanishi, Hiromi Fujita, Fumihiko Mahara, Kazuya Shiogama, Yutaka Tsutsumi, Toshiaki Takeichi
Severe fever with thrombocytopenia syndrome (SFTS) is an emerging disease caused by a novel Bunyavirus with a high mortality rate. We herein report a fatal case of an 86-year-old woman with SFTS complaining of a fever, fatigue, and bicytopenia. Her condition deteriorated with rapid progression of bleeding tendency, disturbance of consciousness, and multiple organ failure leading to death on Day 6 of her illness. The histopathological findings in the autopsy revealed marked infiltration of macrophages with hemophagocytosis in the bone marrow, liver, and spleen leading to a diagnosis of hemophagocytic lymphohistiocytosis (HLH)...
2017: Internal Medicine
https://www.readbyqxmd.com/read/28611024/platelet-amyloid-precursor-protein-is-a-modulator-of-venous-thromboembolism-in-mice
#5
Ilaria Canobbio, Caterina Visconte, Stefania Momi, Gianni Francesco Guidetti, Marta Zarà, Jessica Canino, Emanuela Falcinelli, Paolo Gresele, Mauro Torti
The amyloid precursor protein (APP), primarily known as the precursor of amyloid peptides that accumulate in the brain of Alzheimer's disease patients, is abundant in platelets but its physiological function remains unknown. In this study, we investigated the role of APP in hemostasis and thrombosis using APP knockout (KO) mice. Ex vivo aggregation, secretion, and integrin αIIbβ3 inside-out activation induced by several agonists were normal in APP-deficient platelets, but the number of circulating platelets was reduced by about 20%, and their size was slightly increased...
June 13, 2017: Blood
https://www.readbyqxmd.com/read/28604382/surgical-treatment-of-gastric-stromal-tumors-laparoscopic-versus-open-approach
#6
Monica Ortenzi, Roberto Ghiselli, Luca Cardinali, Mario Guerrieri
AIM: Gastrointestinal stromal tumors (GIST) are quite rare tumors, but yet they are the most common mesenchymal lesions of gastrointestinal tract. Their outmost frequent origin site is stomach and presently surgical resection is the mainstay in the treatment of gastric non metastatic GIST. Their peculiar characteristic of growth and poor metastatic tendency make this tumors particularly prone to be managed by minimally invasive technique. Presenting our experience we want show the feasibility and safeness of laparoscopic approach for gastric GIST and its benefits versus traditional open surgery and pointing out short term and long terms outcomes...
2017: Annali Italiani di Chirurgia
https://www.readbyqxmd.com/read/28599169/modifiers-of-clinical-phenotype-in-severe-congenital-hemophilia
#7
Massimo Franchini, Pier Mannuccio Mannucci
Patients with inherited hemophilia A and B usually exhibit a bleeding tendency of a severity proportional to the degree of plasmatic deficiency of the coagulant activity of factor VIII (FVIII:C) and factor IX (FIX:C). Although patients with severe hemophilia (i.e., with FVIII:C and FIX:C levels <1IU/dL) are generally those with the most severe bleeding phenotype, it is common experience that a variable proportion of them experiences a milder bleeding tendency. In this review, we summarize the current knowledge on the possible mechanisms at the basis of the phenotypic heterogeneity of severe hemophilia, focusing in particular on the role of FVIII/FIX gene mutations and thrombophilic polymorphisms...
June 1, 2017: Thrombosis Research
https://www.readbyqxmd.com/read/28598242/antithrombotic-effect-of-fermented-ophiopogon-japonicus-in-thrombosis-induced-rat-models
#8
Yi-Lin Zhang, Mei-Zhu Xi, Young-Bin Choi, Bog-Hieu Lee
In this study, the antithrombotic and thrombolytic ability of second fermented extract of Ophiopogon japonicus (FEOJ) was verified in thrombosis-induced rats. Thrombosis was induced by oral administration of 2% carrageenan for 4 weeks. Five experimental groups (n = 9/group) involved in the study were control group, thrombosis group, low-dose FEOJ group (2 mL/kg, low-dose Ophiopogon japonicus [LOJ]), middle-dose FEOJ group (6 mL/kg, medium-dose Ophiopogon japonicus [MOJ]), and high-dose FEOJ group (12 mL/kg, high-dose Ophiopogon japonicus [HOJ])...
June 9, 2017: Journal of Medicinal Food
https://www.readbyqxmd.com/read/28586618/non-steroidal-anti-inflammatory-drugs-vs-paracetamol-drug-availability-patients-preference-and-knowledge-of-toxicity
#9
Quratulain Zamir, Amina Nadeem
OBJECTIVE: Self-medication is a common practice which is influenced by level of education, society factors and health care facilities availability. In our region, Pakistan, it is very common and awareness regarding prescription implementation needs to be ensured. Hence the current study highlights the preference, availability and knowledge of toxicity of non-steroidal antiinflammatory medications and paracetamol in Pakistan. METHODS: It was a Descriptive, cross sectional, conducted in Rawalpindi and Islamabad, Pakistan from May to august 2012...
October 2016: Journal of Ayub Medical College, Abbottabad: JAMC
https://www.readbyqxmd.com/read/28583756/thrombelastography-indicates-limitations-of-animal-models-of-trauma-induced-coagulopathy
#10
Gregory R Stettler, Ernest E Moore, Hunter B Moore, Peter J Lawson, Miguel Fragoso, Geoffrey R Nunns, Christopher C Silliman, Anirban Banerjee
BACKGROUND: Thrombelastography (TEG) has been used to characterize the coagulation changes associated with injury and shock. Animal models developed to investigate trauma-induced coagulopathy (TIC) have failed to produce excessive bleeding. We hypothesize that a native TEG will demonstrate marked differences in humans compared with these experimental models, which explains the difficulties in reproducing a clinically relevant coagulopathy in animal models. METHODS: Whole blood was collected from 138 healthy human volunteers, 25 swine and 66 Sprague-Dawley rats before experimentation...
May 11, 2017: Journal of Surgical Research
https://www.readbyqxmd.com/read/28576526/assessment-of-red-blood-cell-distribution-width-and-mean-platelet-volume-in-children-with-epistaxis
#11
Selin Üstün Bezgin, Taliye Çakabay, Işık Odaman Al
OBJECTIVE: This study aimed to investigate whether there is a relationship between red blood cell distribution width, mean platelet volume and epistaxis in children. METHODS: Between January 2015 and July 2016, 105 children who were referred to our clinic with epistaxis and 100 sex- and age-matched controls were retrospectively analyzed. Red blood cell distribution width (RDW) and mean platelet volume (MPV) values were determined in both groups. RESULTS: RDW values were found significantly (P < 0...
April 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28565788/immunosuppressive-agents-are-associated-with-peptic-ulcer-bleeding
#12
Minoru Tomizawa, Fuminobu Shinozaki, Rumiko Hasegawa, Yoshinori Shirai, Yasufumi Motoyoshi, Takao Sugiyama, Shigenori Yamamoto, Naoki Ishige
Peptic ulcer bleeding can be fatal. Non-steroidal anti-inflammatory drugs (NSAIDs), corticosteroids and immunosuppressive agents are administered for long-term usage. The present study assessed the association between peptic ulcer bleeding and administration of NSAIDs, corticosteroids and immunosuppressive agents. Furthermore, the efficacy of lowering the risk of peptic ulcer bleeding with proton pump inhibitors (PPI) and histamine 2 receptor antagonists (H2RA) was evaluated. Medical records were retrospectively analyzed for patients subjected to an upper gastrointestinal (GI) endoscopy performed at the National Hospital Organization Shimoshizu Hospital (Yotsukaido, Japan) from October 2014 to September 2015...
May 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28562514/actn1-related-macrothrombocytopenia-a-novel-entity-in-the-progressing-field-of-pediatric-thrombocytopenia
#13
Helene Boutroux, Bianca David, Paul Guéguen, Pierre Frange, Anne Vincenot, Guy Leverger, Rémi Favier
The most common cause of thrombocytopenia in children is immune thrombocytopenia. Nevertheless, some atypical cases should evoke the hypothesis of genetic thrombocytopenia. Indeed, in the past years, 30 new genes had been described in the field of inherited thrombocytopenia. We report a series of 11 cases of a newly diagnosed entity: ACTN1-related macrothrombocytopenia. Mutations in the gene ACTN1 cause mild macrothrombocytopenia characterized by elevated mean platelet volume and elevated immature platelet fraction, and low bleeding tendency...
May 29, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28556978/giant-pyogenic-granuloma-of-the-finger-in-an-hiv-positive-patient
#14
Libi Kohavi Kleiner, Tova Rogers, Michael Giladi, Michal Dekel, Andrea Gat, Zvi Bentwich, Oren Katz, Eli Sprecher, Ilan Goldberg
Pyogenic granuloma (PG) is an acquired vascular lesion that affects the skin and mucosa. The term Lobular Capillary Hemangioma was subsequently adopted to more accurately reflect its biologic and histopathologic nature [1]. Clinically, PGs usually appear as single, small, red papules with a marked tendency for bleeding. Giant PGs are exceedingly rare with only a handful of reported cases. Here we report the second case of a giant PG arising in an HIV-positive patient [2]. This article is protected by copyright...
May 30, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/28555414/germline-etv6-mutations-and-predisposition-to-hematological-malignancies
#15
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...
May 29, 2017: International Journal of Hematology
https://www.readbyqxmd.com/read/28550758/platelets-and-hemophilia-a-review-of-the-literature
#16
REVIEW
Julia Riedl, Cihan Ay, Ingrid Pabinger
Hemophilia A and B are inherited bleeding disorders due to deficiencies of the clotting factors VIII and IX, respectively. The severity of the disease correlates with remaining factor levels, although individual differences in bleeding tendency are seen despite similar factor levels. While thrombin generation is severely impaired in persons with hemophilia, primary hemostasis, i.e. platelet function, has been generally considered to be normal. However, some studies reported prolonged bleeding times in hemophilia, suggesting that also primary hemostasis is affected...
July 2017: Thrombosis Research
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
#17
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
#18
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
#19
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
#20
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
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