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Platelet disorders

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https://www.readbyqxmd.com/read/28319410/evaluation-of-platelet-indices-as-a-useful-marker-in-papillary-thyroid-carcinoma
#1
O Dincel, C Bayraktar
OBJECTIVES: Our aim was to investigate platelets (PLT) and their indices - mean platelet volume (MPV), platelet distribution width (PDW) and plateletcrit (PCT) - in the differential diagnosis of benign and malignant thyroid disorders. BACKGROUND: Platelet and platelet indices recently started to be defined as an useful clinical marker in cancer patients. Their higher reproducibility rates and low cost provide them a wide range of usage. MATERIAL AND METHODS: One-hundred and sixty patients were divided into three groups retrospectively...
2017: Bratislavské Lekárske Listy
https://www.readbyqxmd.com/read/28319054/association-of-attention-deficit-hyperactivity-disorder-and-autism-spectrum-disorders-with-mean-platelet-volume-and-vitamin-d
#2
Mesut Garipardic, Murat Doğan, Keziban Asli Bala, Tuba Mutluer, Sultan Kaba, Oktay Aslan, Lokman Üstyol
BACKGROUND The purpose of this study was to assess the values of the mean platelet volume (MPV) in children with attention deficit hyperactivity disorder (ADHD) and with autism spectrum disorders (ASDs) to determine the risk of cardiovascular disease in these 2 disorder groups. MATERIAL AND METHODS The study included a total of 79 patients with ADHD or ASDs and controls in the Van region of Turkey. The control group included subjects of matching age and sex with no ADHD, ASDs, or chronic disease and taking no vitamins...
March 20, 2017: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
https://www.readbyqxmd.com/read/28303970/transient-desialylation-in-combination-with-a-novel-antithrombin-deficiency-causing-a-severe-and-recurrent-thrombosis-despite-anticoagulation-therapy
#3
Nuria Revilla, María Eugenia de la Morena-Barrio, Antonia Miñano, Raquel López-Gálvez, Mara Toderici, José Padilla, Ángel García-Avello, María Luisa Lozano, Dirk J Lefeber, Javier Corral, Vicente Vicente
An in-depth focused study of specific cases of patients with recurrent thrombosis may help to identify novel circumstances, genetic and acquired factors contributing to the development of this disorder. The aim of this study was to carry out a detailed and sequential analysis of samples from a patient suffering from early and recurrent venous and arterial thrombosis. We performed thrombophilic tests, biochemical, functional, genetic and glycomic analysis of antithrombin and other plasma proteins. The patient carried a new type I antithrombin mutation (p...
March 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28301587/the-duplication-mutation-of-quebec-platelet-disorder-dysregulates-plau-but-not-c10orf55-selectively-increasing-production-of-normal-plau-transcripts-by-megakaryocytes-but-not-granulocytes
#4
Catherine P M Hayward, Minggao Liang, Subia Tasneem, Asim Soomro, John S Waye, Andrew D Paterson, Georges E Rivard, Michael D Wilson
Quebec Platelet disorder (QPD) is a unique bleeding disorder that markedly increases urokinase plasminogen activator (uPA) in megakaryocytes and platelets but not in plasma or urine. The cause is tandem duplication of a 78 kb region of chromosome 10 containing PLAU (the uPA gene) and C10orf55, a gene of unknown function. QPD increases uPA in platelets and megakaryocytes >100 fold, far more than expected for a gene duplication. To investigate the tissue-specific effect that PLAU duplication has on gene expression and transcript structure in QPD, we tested if QPD leads to: 1) overexpression of normal or unique PLAU transcripts; 2) increased uPA in leukocytes; 3) altered levels of C10orf55 mRNA and/or protein in megakaryocytes and leukocytes; and 4) global changes in megakaryocyte gene expression...
2017: PloS One
https://www.readbyqxmd.com/read/28300069/extracellular-%C3%AE-synuclein-induces-sphingosine-1-phosphate-receptor-subtype-1-uncoupled-from-inhibitory-g-protein-leaving-%C3%AE-arrestin-signal-intact
#5
Lifang Zhang, Taro Okada, Shaymaa Mohamed Mohamed Badawy, Chihoko Hirai, Taketoshi Kajimoto, Shun-Ichi Nakamura
Parkinson's disease (PD) is the second most common neurodegenerative disorder. The presence of α-synuclein (α-Syn)-positive intracytoplasmic inclusions, known as Lewy bodies, is the cytopathological hallmark of PD. Increasing bodies of evidence suggest that cell-to-cell transmission of α-Syn plays a role in the progression of PD. Although extracellular α-Syn is known to cause abnormal cell motility, the precise mechanism remains elusive. Here we show that impairment of platelet-derived growth factor-induced cell motility caused by extracellular α-Syn is mainly attributed to selective inhibition of sphingosine 1-phosphate (S1P) signalling...
March 16, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28299663/runx1-and-cbf%C3%AE-mutations-and-activities-of-their-wild-type-alleles-in-aml
#6
R Katherine Hyde, Paul Liu, Alan D Friedman
Mutations in RUNX1 and CBFB have long been recognized as important in hematological malignancies. Point mutations and deletions of RUNX1 are frequently found in myelodysplastic syndrome, myeloproliferative disease, and acute myeloid leukemia. Germline mutations in RUNX1 are associated with familial platelet disorder with predisposition to AML. In addition, as will be discussed in other chapters, both RUNX1 and CBFB are involved in recurrent chromosomal rearrangements in leukemia. More recently, roles for the non-mutated RUNX1 and CBFB genes have been identified in multiple leukemia subtypes...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28299658/clinical-relevance-of-runx1-and-cbfb-alterations-in-acute-myeloid-leukemia-and-other-hematological-disorders
#7
Klaus H Metzeler, Clara D Bloomfield
The translocation t(8;21), leading to a fusion between the RUNX1 gene and the RUNX1T1 locus, was the first chromosomal translocation identified in cancer. Since the first description of this balanced rearrangement in a patient with acute myeloid leukemia (AML) in 1973, RUNX1 translocations and point mutations have been found in various myeloid and lymphoid neoplasms. In this chapter, we summarize the currently available data on the clinical relevance of core binding factor gene alterations in hematological disorders...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28299211/epistaxis-as-a-common-presenting-symptom-of-glanzmann-s-thrombasthenia-a-rare-qualitative-platelet-disorder-illustrative-case-examples
#8
Michael Recht, Meera Chitlur, Derek Lam, Syana Sarnaik, Madhvi Rajpurkar, David L Cooper, Sriya Gunawardena
Children often present to emergency departments (EDs) with uncontrollable nose bleeding. Although usually due to benign etiologies, epistaxis may be the presenting symptom of an inherited bleeding disorder. Whereas most bleeding disorders are detected through standard hematologic assessments, diagnosing rare platelet function disorders may be challenging. Here we present two case reports and review diagnostic and management challenges of platelet function disorders with a focus on Glanzmann's thrombasthenia (GT)...
2017: Case Reports in Emergency Medicine
https://www.readbyqxmd.com/read/28296287/bio-inspired-nanomedicine-strategies-for-artificial-blood-components
#9
REVIEW
Anirban Sen Gupta
Blood is a fluid connective tissue where living cells are suspended in noncellular liquid matrix. The cellular components of blood render gas exchange (RBCs), immune surveillance (WBCs) and hemostatic responses (platelets), and the noncellular components (salts, proteins, etc.) provide nutrition to various tissues in the body. Dysfunction and deficiencies in these blood components can lead to significant tissue morbidity and mortality. Consequently, transfusion of whole blood or its components is a clinical mainstay in the management of trauma, surgery, myelosuppression, and congenital blood disorders...
March 15, 2017: Wiley Interdisciplinary Reviews. Nanomedicine and Nanobiotechnology
https://www.readbyqxmd.com/read/28296243/measurement-of-platelet-aggregation-independent-of-patient-platelet-count-a-flow-cytometric-approach
#10
Pernille Just Vinholt, Henrik Frederiksen, Anne-Mette Hvas, Ulrik Sprogøe, Christian Nielsen
BACKGROUND: Methods for testing platelet aggregation in thrombocytopenia are missing. OBJECTIVE: To establish a flow cytometric test of in vitro platelet aggregation independent of the patient platelet count and examined the association of aggregation with bleeding history in thrombocytopenic patients. PATIENTS/METHODS: We established a flow cytometric assay of platelet aggregation and measured samples from healthy individuals pre-incubated with antiplatelet drugs and samples from two patients with inherited platelet disorders...
March 15, 2017: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/28295360/human-platelet-antigen-antibody-induction-in-uncomplicated-pregnancy-is-associated-with-hla-sensitization
#11
Viktoria S A Reiher, Gideon Hönger, Laura Infanti, Jakob R Passweg, Irene Hösli, Beat M Frey, Christoph Gassner, Stefan Meyer, Andreas S Buser, Andreas Holbro, Stefan Schaub
BACKGROUND: Alloimmunization against human platelet antigens (HPAs) during pregnancy is rare but can lead to severe bleeding disorders, such as fetal and neonatal alloimmune thrombocytopenia. STUDY DESIGN AND METHODS: In a cohort of 241 uncomplicated pregnancies, we investigated the immunogenicity of HPA mismatches and correlated HLA sensitization with HPA antibody formation. HPA antibodies were measured with a Luminex-based multiplex assay. RESULTS: HPA mismatches were observed in 109 of 241 pregnancies (45%), but child-specific HPA antibodies were only found in two of 109 cases (2%), indicating a low immunogenicity...
March 10, 2017: Transfusion
https://www.readbyqxmd.com/read/28293160/hemophagocytic-histiocytosis-a-clinicopathological-correlation
#12
Waseem Iqbal, Abdulaziz Ajlan Alsalloom, Khalid Shehzad, Faisal Mughal, Zafar Rasheed
OBJECTIVES: Histiocytic hyperplasia with hemophagocytosis (HP) is relatively uncommon condition that has often been mistaken in the past for neoplastic disorders. This study was conducted to investigate the possible etiology of HP, its intensity in the bone marrow (BM), and also its effect on hematological parameters with the extent of disease activity. METHODS: Blood samples were collected and BM examination was performed in 250 patients with varied etiology showing HP...
January 2017: International Journal of Health Sciences
https://www.readbyqxmd.com/read/28285362/purinergic-ecto-enzymes-participate-in-the-thromboregulation-in-acute-in-mice-infection-by-trypanosoma-cruzi
#13
Guilherme M do Carmo, Pedro H Doleski, Mariângela F de Sá, Thirssa H Grando, Nathieli B Bottari, Daniela B R Leal, Lucas T Gressler, Ricardo E Mendes, Lenita M Stefani, Silvia G Monteiro, Aleksandro S Da Silva
Coagulation disorders have been described in Chagas disease with thrombocytopenia as an important event. Several mechanisms may be related to this pathogenesis, such as enzymes of the purinergic system, purine, and receptors involved in the regulation and modulation of physiological events related to hemostasis. Therefore, the aim of this study was to evaluate the activities of E-NTPDase, E-5'nucleotidase, and ecto-adenosine deaminase (E-ADA) in platelets of mice experimentally infected by Trypanosoma cruzi...
March 11, 2017: Molecular and Cellular Biochemistry
https://www.readbyqxmd.com/read/28284561/novel-mutation-in-two-brothers-with-hermansky-pudlak-syndrome-type-3
#14
Kirstin Sandrock-Lang, Ingrid Bartsch, Nina Buechele, Udo Koehler, Carl Philipp Simon-Gabriel, Matthias Eckenweiler, Barbara Zieger
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder causing oculocutaneous albinism, bleeding disorder and ceroid lipofuscinosis. Platelets from HPS patients are characterized by impaired secretion of dense (δ)-bodies (CD63). Meanwhile, there are ten known human HPS genes, each leading to a particular clinical HPS subtype (HPS1-HPS10). We report on two Turkish brothers showing typical HPS phenotype comprising oculocutaneous albinism and bleeding symptoms. Pathological bleeding time as well as platelet aggregometry analyses revealed impaired platelet function...
March 6, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28277061/%C3%AE-granule-biogenesis-from-disease-to-discovery
#15
Chang Hua Chen, Richard W Lo, Denisa Urban, Fred G Pluthero, Walter H A Kahr
Platelets are critical to hemostasis and thrombosis. Upon detecting injury, platelets show a range of responses including the release of protein cargo from α-granules. This cargo is synthesized by platelet precursor megakaryocytes or endocytosed by megakaryocytes and/or platelets. Insights into α-granule biogenesis have come from studies of hereditary conditions where these granules are immature, deficient or absent. Studies of Arthrogryposis, Renal dysfunction, and Cholestasis (ARC) syndrome identified the first proteins essential to α-granule biogenesis: VPS33B and VPS16B...
March 2017: Platelets
https://www.readbyqxmd.com/read/28274032/disseminated-intravascular-coagulation-and-excessive-fibrinolysis-dic-xfl-syndrome-in-prostate-cancer-a-rare-complicated-disorder
#16
Azhar Bin Amir Hamzah, Yew Maw Choo, Mohamed Azmi Hassali, Fahad Saleem, Ashutosh Kumar Verma
Disseminated Intravascular Coagulation (DIC) develops in patient with prostate cancer, which is manifested by systemic, intracranial, intracavitary or intracutaneous bleeding indicating uncompensated or excessive fibrinolysis (XFL). This case report is a description of a 61-year-old male with metastatic prostate cancer that progressed to manifest DIC. The condition is rare in clinical practice, and even rarer when is coupled with XFL. Treatment was mainly replenishing coagulation factors, platelets and controlling the disease progression with aggressive hormonal therapy...
January 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28273701/-analysis-of-clinical-characteristics-and-factors-associated-with-short-term-outcomes-in-early-term-neonates
#17
S S Long, Q X Tang, B X Huang, B Y Lin, L S Wang
Objective: To investigate the clinical characteristics of early term and full term neonates, and analyze the risk factors associated with short term outcomes in early term neonates. Method: Neonates with birth weight (BW) ≥2 500 g from year 2013 were analyzed retrospectively based on American Congress of Obstericians & Gynecologists (ACOG) latest definition of term infants. According to inclusion and exclusion criteria, early term (gestational age 37-38 weeks) and full term(gestational age 39-40 weeks) neonates were included, whose morbidity constituent proportion was analyzed by χ(2) test or Fisher accuracy test or t test or Wilcoxon test...
March 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28269764/targeted-metabolomic-analysis-of-soluble-lysates-from-platelets-of-patients-with-mild-cognitive-impairment-and-alzheimer-s-disease-compared-to-healthy-controls-is-pc-aec40-4-a-promising-diagnostic-tool
#18
Herbert Oberacher, Kathrin Arnhard, Caroline Linhart, Angela Diwo, Josef Marksteiner, Christian Humpel
Alzheimer's disease (AD) is a progressive neurodegenerative disorder of the central nervous system. The use of biological fluids in AD diagnosis remains limited to the analysis of specific protein biomarkers in cerebrospinal fluid. However, metabolomic analysis has recently revealed several metabolites in plasma, especially phosphatidylcholines (PC), as putative biomarkers specific for AD. Following on previous reports of platelet abnormalities in AD, we hypothesized that platelets metabolites released in plasma may offer new biomarkers in AD...
February 28, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28267383/whole-exome-sequencing-identifies-a-mutation-in-thrombomodulin-as-the-genetic-cause-of-a-suspected-platelet-disorder-in-a-family-with-normal-platelet-function
#19
Annabel Maclachlan, Gerry Dolan, Charlotte Grimley, Steve P Watson, Neil V Morgan, On Behalf Of The Uk Gapp Study Group
Here, we describe a mother and son with a lifelong bleeding tendency and posttraumatic bleeding who were recruited to the UK Genotyping and Phenotyping of Platelets (GAPP) study with a suspected platelet function disorder. However, despite a clinically significant bleeding score, both had normal platelet counts and normal platelet function. The patients' blood was analyzed by light transmission aggregometry and genotyping by whole exome sequencing, as outlined by the GAPP study. Approximately 25 000 genetic variants were found for each patient as a result of sequencing and were filtered using a specialized bioinformatics pipeline...
March 7, 2017: Platelets
https://www.readbyqxmd.com/read/28262234/impact-of-haemostatic-mechanisms-on-pathophysiology-of-preeclampsia
#20
Chris Gardiner, Manu Vatish
Preeclampsia (PE) is disorder of new onset hypertension and proteinuria during the second half of pregnancy. There is increasing evidence to implicate placental over-expression of tissue factor and PAR-1 in the pathophysiology of PE. Excessive activation of platelets, neutrophils and the complement system may also contribute to the placental pathology and maternal endothelial responsible for the symptoms of PE. Increased knowledge in this field may identify new therapeutic strategies for the treatment of PE...
March 2017: Thrombosis Research
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