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https://www.readbyqxmd.com/read/28212842/pathophysiological-consequences-of-receptor-mistraffic-tales-from-the-platelet-p2y12-receptor
#1
Margaret R Cunningham, Riyaad Aungraheeta, Stuart J Mundell
Genetic variations in G protein-coupled receptor (GPCR) genes can disrupt receptor function in a wide variety of human genetic diseases, including platelet bleeding disorders. Platelets are critical for haemostasis with inappropriate platelet activation leading to the development of arterial thrombosis, which can result in heart attack and stroke whilst decreased platelet activity is associated with an increased risk of bleeding. GPCRs expressed on the surface of platelets play key roles in regulating platelet activity and therefore function...
February 14, 2017: Molecular and Cellular Endocrinology
https://www.readbyqxmd.com/read/28203325/inherited-thrombocytopenia-with-a-different-type-of-gene-mutation-a-brief-literature-review-and-two-case-studies
#2
Mohammad Taghi Arzanian
Hereditary thrombocytopenias are rare bleeding disorders, which cause a deficiency of platelets in early infancy. This group of disorders is sometimes associated with abnormal phenotypes, like absence of radius. Diagnosis of this type of thrombocytopenia is usually difficult; other causes of thrombocytopenia, such as immune disorders and infections, must be ruled out. The symptoms of hereditary thrombocytopenia also vary from seldom and mild to severe bleeding and occasionally may first occur in late childhood...
October 2016: Iranian Journal of Pediatrics
https://www.readbyqxmd.com/read/28202865/repeated-diffuse-alveolar-hemorrhage-in-a-patient-with-hemophilia-b
#3
Hajime Kasai, Jiro Terada, Hiromasa Hoshi, Takashi Urushibara, Fumiaki Kato, Rintaro Nishimura, Koichiro Tatsumi
Diffuse alveolar hemorrhage (DAH) is a life-threatening complication that occurs in association with various diseases including coagulation disorders. In rare cases, it is caused by hemophilia. A 48-year-old man was admitted to our hospital for a third time due to DAH. Although the cause of DAH could not be identified by bronchoscopy or laboratory tests, a good response to corticosteroids suggested idiopathic DAH with pulmonary capillaritis. The patient was diagnosed with hemophilia B based on the results of a detailed inquiry, a mildly prolonged activated partial thromboplastin time, and low factor IX activity...
2017: Internal Medicine
https://www.readbyqxmd.com/read/28193763/neurologic-involvement-in-patients-with-atypical-chediak-higashi-disease
#4
Wendy J Introne, Wendy Westbroek, Catherine A Groden, Vikas Bhambhani, Gretchen A Golas, Eva H Baker, Tanya J Lehky, Joseph Snow, Shira G Ziegler, May Christine V Malicdan, David R Adams, Heidi M Dorward, Richard A Hess, Marjan Huizing, William A Gahl, Camilo Toro
OBJECTIVE: To delineate the developmental and progressive neurodegenerative features in 9 young adults with the atypical form of Chediak-Higashi disease (CHD) enrolled in a natural history study. METHODS: Patients with atypical clinical features, but diagnostically confirmed CHD by standard evaluation of blood smears and molecular genotyping, underwent complete neurologic evaluation, MRI of the brain, electrophysiologic examination, and neuropsychological testing...
14, 2017: Neurology
https://www.readbyqxmd.com/read/28181366/molecular-phenotype-and-bleeding-risks-of-an-inherited-platelet-disorder-in-a-family-with-a-runx1-frameshift-mutation
#5
M S Badin, J K Iyer, M Chong, L Graf, G E Rivard, J S Waye, A D Paterson, G Pare, C P M Hayward
INTRODUCTION: Inherited defects in RUNX1 are important causes of platelet function disorders. AIM: Our goals were to evaluate RUNX1-related platelet disorders among individuals evaluated for uncharacterized, inherited platelet function disorders and test a proof of concept that bleeding risks could be quantitatively estimated for typical families with an inherited platelet function disorder. METHODS: Index cases with an uncharacterized inherited platelet function disorder were subjected to exome sequencing with confirmation of RUNX1 mutations by Sanger sequencing...
February 8, 2017: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/28164499/inherited-platelet-function-disorders-ipfds
#6
REVIEW
Akbar Dorgalaleh, Shadi Tabibian, Morteza Shamsizadeh
BACKGROUND: Inherited platelet function disorders (IPFDs) are a wide spectrum of qualitative platelet disorders with variable bleeding tendency, ranging from mild bleeding to severe life-threatening episodes. Diagnosis and classification of IPFDs is a challenge worldwide. The present study aims to present a proper classification, describe the molecular basis and clinical presentations as well as some diagnostic clues for these disorders. METHODS: All relevant publications were searched using appropriate keywords...
January 1, 2017: Clinical Laboratory
https://www.readbyqxmd.com/read/28155262/comparative-burden-of-arthropathy-in-mild-haemophilia-a-register-based-study-in-sweden
#7
M Osooli, S Lövdahl, K Steen Carlsson, K Knobe, F Baghaei, M Holmström, J Astermark, E Berntorp
INTRODUCTION: Mild haemophilia is a congenital bleeding disorder affecting males. The burden of arthropathy in mild haemophilia has not been comprehensively described. AIM: The aim of this study was to compare the incidence, age at diagnosis and surgery for arthropathy and related hospitalizations between people with mild haemophilia and the general population in Sweden. METHODS: This was a register-based cohort study. Eligible participants were those with mild haemophilia born between 1941 and 2008 and a randomly selected, birthdate and sex-matched comparison group from the general population...
February 2, 2017: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/28138763/-haemoptysis-intensive-care-management-of-pulmonary-hemorrhage
#8
J H Ficker, W M Brückl, J Suc, A Geise
There is a wide spectrum of severities in patients with pulmonary bleeding with a range from mild haemoptysis to severe bleeding with an acute risk of asphyxiation. For the management of acute pulmonary haemorrhage, it is essential to identify the underlying cause in order to initiate a target-oriented or causal therapy. The most common causes of localized pulmonary bleeding are lung cancer as well as infections, anticoagulant therapy or bronchiectasis. Diffuse alveolar haemorrhage is mostly due to pulmonary vasculitis or connective tissue disease, but may also occur in pulmonary metastasis, congestive heart failure, coagulation disorders and from many other causes...
January 30, 2017: Der Internist
https://www.readbyqxmd.com/read/28134622/mutations-in-tropomyosin-4-underlie-a-rare-form-of-human-macrothrombocytopenia
#9
Irina Pleines, Joanne Woods, Stephane Chappaz, Verity Kew, Nicola Foad, José Ballester-Beltrán, Katja Aurbach, Chiara Lincetto, Rachael M Lane, Galina Schevzov, Warren S Alexander, Douglas J Hilton, William J Astle, Kate Downes, Paquita Nurden, Sarah K Westbury, Andrew D Mumford, Samya G Obaji, Peter W Collins, Fabien Delerue, Lars M Ittner, Nicole S Bryce, Mira Holliday, Christine A Lucas, Edna C Hardeman, Willem H Ouwehand, Peter W Gunning, Ernest Turro, Marloes R Tijssen, Benjamin T Kile
Platelets are anuclear cells that are essential for blood clotting. They are produced by large polyploid precursor cells called megakaryocytes. Previous genome-wide association studies in nearly 70,000 individuals indicated that single nucleotide variants (SNVs) in the gene encoding the actin cytoskeletal regulator tropomyosin 4 (TPM4) exert an effect on the count and volume of platelets. Platelet number and volume are independent risk factors for heart attack and stroke. Here, we have identified 2 unrelated families in the BRIDGE Bleeding and Platelet Disorders (BPD) collection who carry a TPM4 variant that causes truncation of the TPM4 protein and segregates with macrothrombocytopenia, a disorder characterized by low platelet count...
January 30, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28100060/boerhaave-s-syndrome-diagnostic-gastroscopy
#10
Rocío Ferreiro-Iglesias, Manuel Narciso Blanco Freire, Manuel Paz Novo, J Enrique Domínguez Muñoz
A 47-year-old man was attended at the emergency room for severe chest pain after eating sausage with subsequent vomiting and mild upper gastrointestinal bleeding. In the chest radiography we could not see abnormalities. He referred previous episodes of choking without consulting. The urgent gastroscopy detected tertiary contractile activity (nutcracker esophagus) and a foreign body in the lower third of the esophagus. After removing the food bolus, we observed a 4 cm longitudinal tear compatible with esophageal rupture or Boerhaave's syndrome in the right posterior wall of the lower esophagus, proximal to the gastroesophageal junction...
January 2017: Revista Española de Enfermedades Digestivas
https://www.readbyqxmd.com/read/28092925/risk-based-management-of-dental-procedures-in-patients-with-inherited-bleeding-disorders-development-of-a-dental-bleeding-risk-assessment-and-treatment-tool-debratt
#11
L Rasaratnam, P Chowdary, D Pollard, B Subel, C Harrington, U R Darbar
INTRODUCTION: Successful outcomes in dental management for patients with inherited bleeding disorders require close collaboration between haematology teams and dentists. AIM: To review outcomes of an interdisciplinary pathway for dental procedures by assessing adequacy and appropriateness of haemostatic management. METHODS: Two hundred dental procedures in 30 patients with inherited bleeding disorders were included. A Dental Bleeding Risk Assessment and Treatment Tool (DeBRATT) was developed to identify four categories of bleeding risk (no risk, low, moderate and high risk of bleeding) in relation to the severity of the bleeding disorder and the invasiveness of dental procedure...
January 16, 2017: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/28060550/evaluating-platelet-function-disorders-in-children-with-bleeding-tendency-a-single-center-study
#12
Osama Tanous, Orna Steinberg Shemer, Joanne Yacobovich, Meira Zoldan, Yoseph Horovitz, Isaac Yaniv, Esther Rabizadeh, Hannah Tamary, Sigal Nakav, Judith Lahav
Platelet function disorders (PFDs) are a common cause of mild bleeding tendency. However, they cannot be recognized by standard screening studies. The gold standard test for PFD is platelet aggregation, performed by light transmission aggregometry (LTA). A newer and less validated method is the closure time (CT), performed by the platelet function Analyzer 100 (PFA-100). Data regarding the validity of these tests in children are limited. The aim of this study was to evaluate the usefulness of LTA and PFA-100 for the diagnosis of pediatric patients with bleeding tendency...
January 6, 2017: Platelets
https://www.readbyqxmd.com/read/28017214/stroke-severity-may-predict-causes-of-readmission-within-one-year-in-patients-with-first-ischemic-stroke-event
#13
Cheng-Yang Hsieh, Huey-Juan Lin, Ya-Han Hu, Sheng-Feng Sung
INTRODUCTION: Readmissions after stroke are costly. Risk assessment using information available upon admission could identify high-risk patients for potential interventions to reduce readmissions. Baseline stroke severity has been suspected to be a factor in readmission; however, the exact nature of the impact has not been adequately understood. METHODS: Hospitalized adult patients with first-ever ischemic stroke were identified from a nationwide administrative database...
January 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/27998307/neuro-behcet-disease-presenting-as-a-solitary-cerebellar-hemorrhagic-lesion-a-case-report-and-review-of-the-literature
#14
Minju Yeo, Hye-Lim Lee, Minju Cha, Ji Seon Kim, Ho-Seong Han, Sung-Hyun Lee, Sang-Soo Lee, Dong-Ick Shin
BACKGROUND: Behcet's disease is a heterogeneous, multisystem, inflammatory disorder of unknown etiology. The classic triad of oral and genital ulcerations in conjunction with uveitis was originally described by the Turkish dermatologist Hulusi Behcet in 1937, but associated symptoms of the cardiovascular, central nervous, pulmonary, and gastrointestinal systems were later identified. In fact, Behcet's disease with neurological involvement (neuro-Behcet's disease) is not uncommon. Patients with neuro-Behcet's disease typically exhibit a diverse array of symptoms, most commonly in the brainstem and diencephalic regions...
December 20, 2016: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/27958602/severe-to-profound-deafness-may-be-associated-with-myh9-related-disease-report-of-4-patients
#15
P Canzi, A Pecci, M Manfrin, E Rebecchi, C Zaninetti, V Bozzi, M Benazzo
MYH9-related disease (MYH9-RD) is a rare genetic syndromic disorder characterised by congenital thrombocytopenia and is associated with the risk of developing progressive sensorineural hearing loss, nephropathy and presenile cataracts during childhood or adult life. All consecutive patients enrolled in the Italian Registry for MYH9-RD with severe to profound deafness were included in a retrospective study. The study population involved 147 Italian patients with MYH9-RD: hearing loss was identified in 52% of cases and only 4 patients (6%) presented severe to profound deafness at a mean age of 33 years...
October 2016: Acta Otorhinolaryngologica Italica
https://www.readbyqxmd.com/read/27872729/mild-bleeders-diagnosis-is-elusive-in-large-number-of-patients
#16
Mrinalini Kotru, Deepti Mutereja, Abhishek Purohit, Seema Tyagi, Manoranjan Mahapatra, Renu Saxena, Hara Prasad Pati
BACKGROUND: Bleeding is a common clinical presentation. Even patients with mild bleeding disorders are extensively investigated for ascertaining the cause. The present study was conducted in order to evaluate the extent of the possibility of diagnosis in mild bleeding disorders. MATERIAL AND METHODS: This was a prospective study of patients referred for work up of mild bleeding for a period of 13 months. A complete blood count, peripheral smear examination, Prothrombin time, Partial Thromboplastin time and Thrombin Time, Platelet Aggregometry test, tests for von Willebrand's disease and Platelet Factor 3 availability were measured...
2016: Mediterranean Journal of Hematology and Infectious Diseases
https://www.readbyqxmd.com/read/27863189/hemophilia-in-sports-a-case-report-and-prophylactic-protocol
#17
Mark Maffet, Jimmy Roton
OBJECTIVE:  To describe a successful prophylactic protocol for managing an athlete with hemophilia playing at a high level of contact sports. BACKGROUND:  Published data show that team physicians are not comfortable either treating athletes with bleeding disorders or allowing them to participate in contact sports. Much of the literature historically has recommended against allowing athletes with bleeding disorders to play sports at all and certainly against playing contact sports...
January 2017: Journal of Athletic Training
https://www.readbyqxmd.com/read/27853682/acute-cervical-spontaneous-spinal-epidural-hematoma-presenting-with-minimal-neurological-deficits-a-case-report
#18
Jisoon Huh, Ho-Young Kwak, You-Nam Chung, Sun Kyung Park, Yun Suk Choi
INTRODUCTION: Spontaneous spinal epidural hematoma (SSEH) is an uncommon but potentially fatal condition. The increased bleeding tendency associated with anticoagulant medications has been proven to increase the risk of SSEH. The symptoms of SSEH usually begin with sudden severe neck or back pain and are followed by neurological deficits. However, some cases present with only axial pain or with radicular pain similar to herniated disc disorders. CASE PRESENTATION: A 28-year-old healthy man developed a sudden onset of severe neck and right shoulder pain with mild arm weakness...
October 2016: Anesthesiology and Pain Medicine
https://www.readbyqxmd.com/read/27824213/combined-coagulation-factor-viii-and-factor-ix-deficiency-cdf8f9-in-a-patient-from-lithuania
#19
V Ivaškevičius, B Pezeshkpoor, A Biswas, G Goldmann, S Horneff, M Gimbutyte, L Malciute, R Jurgutis, J Oldenburg
: Haemophilia A (FVIII deficiency) and haemophilia B (FIX deficiency) are X-linked inherited bleeding disorders. It is a very rare event to identify both haemophilias in the same patient. So far, only two families with such combination are reported in the literature worldwide supported by genetic background. PATIENTS AND METHODS: Evaluation of clinical data, determination of FVIII and FIX levels and genetic analysis of F8 and F9 genes by direct sequencing. RESULTS: We report on a patient having severe haemophilia B (FIX:C <1 IU dl(-1)) and mild haemophilia A (FVIII:C 18 IU dl(-1) )...
November 8, 2016: Hämostaseologie
https://www.readbyqxmd.com/read/27797267/plasma-derived-human-factor-x-concentrate-for-on-demand-and-perioperative-treatment-in-factor-x-deficient-patients-pharmacology-pharmacokinetics-efficacy-and-safety
#20
REVIEW
Amy Shapiro
Hereditary factor X (FX) deficiency is a rare autosomal recessive bleeding disorder characterized mainly by mild-to-severe bleeding into the mucous membranes, muscles or joints. Previously, treatment options for hereditary FX deficiency were limited mostly to products that may not specify FX content (i.e. fresh frozen plasma and prothrombin complex concentrates) and that have associated safety concerns. To meet the need for a single-factor replacement therapy specifically for use in FX-deficient patients, a high-purity, high-potency, human plasma-derived FX concentrate (pdFX; Coagadex®; Bio Products Laboratory, Elstree, UK) has been developed and approved for treatment of perioperative bleeding and on-demand treatment in FX-deficient patients...
January 2017: Expert Opinion on Drug Metabolism & Toxicology
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