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https://www.readbyqxmd.com/read/28314138/depression-and-post-traumatic-stress-disorder-in-individuals-with-hereditary-hemorrhagic-telangiectasia-a-cross-sectional-survey
#1
Shruti Chaturvedi, Marianne Clancy, Nicole Schaefer, Olalekan Oluwole, Keith R McCrae
INTRODUCTION: Hereditary hemorrhagic telangiectasia (HHT) is characterized by frequent severe bleeding, particularly epistaxis, and life-threatening complications including stroke, brain abscess and heart failure. The psychological impact of HHT is not known. We conducted this cross sectional study to determine the prevalence of depression and post-traumatic stress disorder (PTSD) related to HHT. METHODS: A survey tool comprising demographic and clinical information and two validated self-administered questionnaires, the PTSD checklist for DSM-5 (PCL-5) and Beck Depression Inventory-II (BDI-II), was distributed to individuals with HHT...
March 9, 2017: Thrombosis Research
https://www.readbyqxmd.com/read/28299211/epistaxis-as-a-common-presenting-symptom-of-glanzmann-s-thrombasthenia-a-rare-qualitative-platelet-disorder-illustrative-case-examples
#2
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/28295573/therapeutic-plasma-exchange-for-perioperative-management-of-patients-with-congenital-factor-xi-deficiency
#3
Mohamed S Alsammak, Aneel A Ashrani, Jeffrey L Winters, Rajiv K Pruthi
BACKGROUND: Factor XI (FXI) deficiency (hemophilia C [HEM-C]) is a bleeding disorder with unpredictable severity that correlates poorly with FXI coagulation activity (FXI:C). It poses a perioperative hemostatic management challenge. For US patients with severe disease, fresh frozen plasma (FFP) or, in current use, thawed plasma is the most readily available option but comes with risk of volume overload. We report our experience of using therapeutic plasma exchange (TPE) as an alternative perioperative management strategy...
March 15, 2017: Journal of Clinical Apheresis
https://www.readbyqxmd.com/read/28252515/factor-viii-mutation-spectrum-in-haemophilia-a-patients-in-the-population-of-henan-china
#4
Nan Bai, Xiaofan Zhu, Zhenhua Zhao, Ying Bai, Qinghua Wu, Ning Liu, Duo Chen, Xiangdong Kong
Defects in the coagulation factor VIII gene cause haemophilia A, which is the most common X-linked recessive bleeding disorder. In total, 45 affected families were investigated to elucidate the factor VIII gene mutation spectrum. The families were subjected to clinical, biochemical, and molecular analyses. Inverse-shifting PCR was first applied to severe haemophilia A patients to identify inversions in introns 22 and 1. Then, next-generation sequencing was performed to detect mutations in inversion-negative patients with severe haemophilia A and moderate-mild haemophilia A patients...
March 1, 2017: Blood Coagulation & Fibrinolysis: An International Journal in Haemostasis and Thrombosis
https://www.readbyqxmd.com/read/28251495/new-clotting-disorders-that-cast-new-light-on-blood-coagulation-and-may-play-a-role-in-clinical-practice
#5
REVIEW
A Girolami, E Cosi, S Ferrari, A M Lombardi, B Girolami
Recently several variants of clotting factors have shown a peculiar behavior so that they appear as new defects. The factors involved are FII, FV and FIX. Prothrombin deficiency is usually associated with bleeding. Recently a few prothrombin abnormalities involving Arg396 mutations, have been demonstrated to show antithrombin resistance with the consequent appearance of a thrombophilic state and venous thromboses in young age. The same is true for an abnormal FIX (FIX Padua). The thrombotic manifestations in the latter condition are also venous...
March 1, 2017: Journal of Thrombosis and Thrombolysis
https://www.readbyqxmd.com/read/28246618/effect-of-intravenous-ketorolac-on-postoperative-pain-in-mandibular-fracture-surgery-a-randomized-double-blind-placebo-controlled-trial
#6
Hamid Reza Eftekharian, Homa Ilkhani Pak
OBJECTIVE: To evaluate the effects of intravenous ketorolac on early postoperative pain in patients with mandibular fractures, who underwent surgical repair. METHODS: This prospective, randomized, placebo-controlled clinical trial was conducted in Shahid Rajaei Hospital, affiliated with Shiraz University of Medical Sciences during a 1-year period from 2015 to 2016. We included a total number of 50 patients with traumatic mandibular fractures who underwent surgical repair...
January 2017: Bulletin of Emergency and Trauma
https://www.readbyqxmd.com/read/28228103/disease-manifestations-and-burden-of-illness-in-patients-with-acid-sphingomyelinase-deficiency-asmd
#7
REVIEW
Margaret M McGovern, Ruzan Avetisyan, Bernd-Jan Sanson, Olivier Lidove
Acid sphingomyelinase deficiency (ASMD), a rare lysosomal storage disease, is an autosomal recessive genetic disorder caused by different SMPD1 mutations. Historically, ASMD has been classified as Niemann-Pick disease (NPD) types A (NPD A) and B (NPD B). NPD A is associated with a uniformly devastating disease course, with rapidly progressing psychomotor degeneration, leading to death typically by the age of 3 years, most often from respiratory failure. In contrast, the clinical phenotype and life expectancy of patients with NPD B may vary widely...
February 23, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28224648/impacts-of-disease-severity-on-postoperative-complications-in-children-with-sleep-disordered-breathing
#8
Kun-Tai Kang, I-Sheng Chang, Chia-Chen Tseng, Wen-Chin Weng, Tzu-Yu Hsiao, Pei-Lin Lee, Wei-Chung Hsu
OBJECTIVES/HYPOTHESIS: To investigate the effects of diseases severity on postoperative complications following adenotonsillectomy (T&A) in children with sleep-disordered breathing (SDB). STUDY DESIGN: Retrospective study. METHODS: Children aged <18 years were enrolled and underwent T&A for treating SDB. Polysomnography was used to classify the disease severity: primary snoring (apnea-hypopnea index [AHI] <1), mild (AHI = 1-5), moderate (AHI = 5-10), and severe obstructive sleep apnea [OSA] (AHI ≥10)...
February 22, 2017: Laryngoscope
https://www.readbyqxmd.com/read/28212842/pathophysiological-consequences-of-receptor-mistraffic-tales-from-the-platelet-p2y12-receptor
#9
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
#10
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
#11
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
#12
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...
February 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
#13
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
#14
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
#15
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
#16
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
#17
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...
March 1, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28100060/boerhaave-s-syndrome-diagnostic-gastroscopy
#18
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
#19
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
#20
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
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