Presentation
In the present study, we investigate the structural and functional importance of all 20 structural disulfide bonds in FXIII-B subunit. [readbyqxmd.com]
Mason, MD now presents the fifth edition in full color with new images and highlighted clinical elements. [books.google.com]
Patients present with delayed umbilical cord separa- tion, recurrent, severe bacterial infections without pus formation, and leukocytosis. [dev.docslide.net]
Certifications & Licensure PA State Medical License 1986 - 2020 American Board of Pediatrics Pediatric Hematology-Oncology Awards, Honors, & Recognition CMS Meaningful Use Stage 1 Certification Allscripts Enterprise EHR, Allscripts, 2012-2013 Publications & Presentations [doximity.com]
Signaling from agonist receptors is normal because the platelets change shape, produce thromboxane A 2, and present P-selectin in response to stimulation. [doi.org]
Hematological
- Prolonged Bleeding
Related phenotypes are epistaxis and prolonged bleeding time UniProtKB/Swiss-Prot : 76 Bleeding disorder, platelet-type 18: A disorder characterized by increased bleeding tendency due to platelet dysfunction. [malacards.org]
Thus, abnormalities of platelet glycoproteins, platelet granules, and signal transduction and secretion can all result in hemorrhagic diatheses and prolonged bleeding times. [accessmedicine.mhmedical.com]
Hemostatic disorder of uremia: the platelet defect, main determinant of the prolonged bleeding time, is correlated with indices of activation of coagulation and fibrinolysis. [medicinaylaboratorio.com]
Entire Body System
- Anemia
79241 Biotinidase deficiency 1.6 P * 79241 Biotinidase deficiency 1.6 BP 2617 Bird headed-dwarfism, Montreal type 3 Cases 179 Birdshot chorioretinopathy 0.35 P 122 Birt-Hogg-Dubé syndrome 0.5 P * 123 Björnstad syndrome 33 Cases 124 Blackfan-Diamond anemia [azkurs.org]
Ten days after discharge she presented with persistent bleeding from the sites of her 2-month vaccinations and severe anemia (hemoglobin 4.8 g/dl). Her bleeding resolved following transfusion of platelets. [dev.docslide.net]
- Inflammation
They observed significant defects in beta1- and beta2-integrin-mediated adhesion of CalDAG-GEFI-deficient neutrophils, which impaired the response of these cells to injury and inflammation. [bphmeds.net]
Orenes-Piñero E, Pineda J, Roldán V, Hernández-Romero D, Marco P, Tello-Montoliu A, Sogorb F, Valdés M, Lip GY, Marín F.Effects of Body Mass Index on the Lipid Profile and Biomarkers of Inflammation and a Fibrinolytic and Prothrombotic State.J Atheroscler [hematoncologia.com]
Cardiovascular
- Heart Disease
Comparison of different methods to evaluate the effect of aspirin on platelet function in high-risk patients with ischemic heart disease receiving dual antiplatelet treatment. [medicinaylaboratorio.com]
Skin
- Purpura
[…] disease Brite Human diseases [BR: br08402 ] Cardiovascular diseases Hematologic diseases H01235 Bleeding disorder platelet-type Human diseases in ICD-11 classification [BR: br08403 ] 03 Diseases of the blood or blood-forming organs Coagulation defects, purpura [genome.jp]
Neurologic
- Intracranial Hemorrhage
CASE REPORT: This case report describes an infant with hereditary severe FXD who presented with a spontaneous, life-threatening intracranial hemorrhage and was treated with the first licensed plasma-derived FX (pdFX) concentrate. [readbyqxmd.com]
Workup
Read Issue Information 70 days Haemophilia Read Joint status in Spanish haemophilia B patients assessed using the Haemophilia Early Arthropathy Detection with Ultrasound (HEAD‐US) score 75 days Haemophilia Read Whole exome sequencing in the diagnostic workup [terkko.helsinki.fi]
Treatment
This book provides a concise yet comprehensive summary of the current state of knowledge concerning the pathophysiology, differential diagnosis and treatment options that support day-to-day patient management. [books.google.com]
[…] factor VIII inhibitor 68 days Haemophilia Read Cardiovascular disease‐related hospitalization and mortality among persons with von Willebrand disease: A nationwide register study in Sweden 68 days Haemophilia Read Samuel Armstrong Lane's first successful treatment [terkko.helsinki.fi]
The patient developed hematuria approximately in the 29th month of treatment... [readbyqxmd.com]
Consequently, activation and maintenance of α IIb /β 3 into a fibrinogen-binding conformation is impaired in the absence of TGFβ1. 4-Phorbol 12-myristate 13-acetate treatment and protein kinase C activity measurements suggest a defect downstream of protein [doi.org]
Treatment for LAD syndromes requires close follow-up and early management of all infections with the definitive treatment being allogeneic hematopoietic stem cell transplant [20]. [dev.docslide.net]
Prognosis
Unraveling the underlying molecular defect provides the definitive diagnosis of IBDs, facilitating prognosis and clinical care, which are especially important for severe clinical syndromes and those that may be associated with an increased risk of malignancy [readbyqxmd.com]
Etiology
It results from defective signaling via leukocyte integrins and mutation in KINDLIN-3 is the likely etiology of the disease. [dev.docslide.net]
Pathophysiology
This book provides a concise yet comprehensive summary of the current state of knowledge concerning the pathophysiology, differential diagnosis and treatment options that support day-to-day patient management. [books.google.com]
RasGRP2 Structure, Function and Genetic Variants in Platelet Pathophysiology. Canault M, Alessi MC. Canault M, et al. Int J Mol Sci. 2020 Feb 6;21(3):1075. doi: 10.3390/ijms21031075. Int J Mol Sci. 2020. PMID: 32041177 Free PMC article. Review. [pubmed.ncbi.nlm.nih.gov]
Prevention
Phosphorylation of CalDAG-GEFI by protein kinase A prevents Rap1b activation. JOURNAL OF THROMBOSIS AND HAEMOSTASIS 11:1574-1582(2013). [creative-diagnostics.com]
Add BLAST 374 Natural variant i VAR_071474 248 G → W in BDPLT18; prevents Rap1 activation upon calcium stimulation; reduces platelet adhesion and spreading. [uniprot.org]
GPVI. (2018) Blood Advances 2:240-251 Rayes J ., Jadoui S, Lax S, Gros A, Wichaiyo S, Ollivier V, Denis CV, Ware J, Nieswandt B, Jandrot-Perrus M, Watson SP and Ho-Tin-Noé B The contribution of platelet glycoprotein receptors to inflammatory bleeding prevention [birmingham.ac.uk]
The PH domain mutation prevents adhesion and the FERM sub-domain 2 mutation affects migration. [dev.docslide.net]
April 16, 2019: Annals of Medicine # 16 REVIEW Frederikus A Klok, Stefano Barco, Bob Siegerink The main objectives of therapeutic trials in venous thromboembolism (VTE) are to prevent recurrent VTE, major bleeding and death. [readbyqxmd.com]