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Hanadi Alhozali
Hermansky-Pudlak syndrome (HPS) is a group of 10 autosomal recessive inherited diseases. Most patients exhibit albinism with nystagmus, visual acuity loss, and a platelet storage pool deficiency with bleeding diathesis. The severity and variety of other clinical features depend on the HPS subtype. We report a 24-year-old male with end-stage renal disease (ESRD) of unknown etiology and a history of oculocutaneous albinism and bleeding diathesis. Two of his siblings also had oculocutaneous albinism. The diagnostic workup for renal impairment was unremarkable...
October 2023: Curēus
#22
REVIEW
Renato Marino
Acquired Hemophilia A (AHA) is a rare autoimmune disorder characterized by the onset of a sudden and unexpected bleeding episode in a patient with no personal or family history of bleeding diathesis, and with a typical laboratory feature, i.e., a prolonged activated partial thromboplastin time that is not otherwise explained. This bleeding disorder is caused by autoantibodies directed against the coagulation factor VIII (FVIII). AHA is idiopathic in 50% of cases and is secondary to well-defined diseases in the remaining 50%...
September 28, 2023: Medicina
#23
REVIEW
Jacopo D'Andria Ursoleo, Margherita Licheri, Gaia Barucco, Sara Breggion, Francesco De Simone, Fabrizio Monaco
BACKGROUND: Impairment of platelet responses to adenosine diphosphate (ADP) is typified by mild to severe bleeding diathesis, easy bruising, excessive mucosal and post-operative bleeding. Patients lack full platelet activation and aggregation in response to ADP. Following research of the literature in Scopus, PubMed/MEDLINE, ScienceDirect, and the Cochrane Library, we report only 18 patients described to date with impaired platelet response to ADP, none of whom in the high bleeding-risk surgical setting or exploring potential therapeutic options...
October 5, 2023: Journal of Clinical Medicine
#24
JOURNAL ARTICLE
Amber Coussee, Gudrun Alliet, Anne-Sophie Hervent, Liesbeth Vynckier, Jan Emmerechts, Sam Van Hecke, Lies Persijn
BACKGROUND: Multiple myeloma is one of the most common hematologic malignancies. Acquired factor X deficiencies are often observed in primary (AL) amyloidosis and rarely in multiple myeloma. OBJECTIVE: We report a case of an acquired factor X deficiency in a patient with a newly diagnosed IgA lambda multiple myeloma, without any evidence of concomitant amyloidosis. METHODS: We present the patient's medical history, clinical and physical examinations, laboratory analysis, and outcome...
December 2023: Acta Clinica Belgica
#25
JOURNAL ARTICLE
Ariella Tvito, Ariel Rokach, Eliel Ben-David, Moshe Simons, Samuel Noam Heyman
INTRODUCTION: Intracranial haemorrhage may complicate infective endocarditis, caused by ruptured mycotic aneurysms or haemorrhagic transformation of brain septic emboli. The risk of intracranial bleeding may increase with the use of non-steroidal anti-inflammatory agent (NSAIDs). CASE DESCRIPTION: We report on a 53-year-old male patient with a past history of intravenous drug abuse, who was treated with diclofenac (75 mg IM) for a few hours of preceding fever and arthralgia...
2023: European Journal of Case Reports in Internal Medicine
#26
JOURNAL ARTICLE
Marie Morimoto, Elena-Raluca Nicoli, Chulaluck Kuptanon, Joseph C Roney, Jenny Serra-Vinardell, Prashant Sharma, David R Adams, John I Gallin, Steven M Holland, Sergio D Rosenzweig, Jose Barbot, Carla Ciccone, Marjan Huizing, Camilo Toro, William A Gahl, Wendy J Introne, May Christine V Malicdan
INTRODUCTION: Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder characterised by partial oculocutaneous albinism, a bleeding diathesis, immunological dysfunction and neurological impairment. Bi-allelic loss-of-function variants in LYST cause CHS. LYST encodes the lysosomal trafficking regulator, a highly conserved 429 kDa cytoplasmic protein with an unknown function. METHODS: To further our understanding of the pathogenesis of CHS, we conducted clinical evaluations on individuals with CHS enrolled in our natural history study...
October 3, 2023: Journal of Medical Genetics
#27
REVIEW
Anna Furlan, Francesca Sartori, Filippo Gherlinzoni
Acquired isolated factor VII (FVII) deficiency is a rare but important discovery in patients with plasma cell disorders with significant therapeutic and prognostic implications. The present analysis and review of cases reported in the literature is intended to highlight disease-related characteristics associated with this rare clotting defect, clinical manifestations and outcome, and potential underlying mechanisms, and to provide guidance on how to manage these patients in terms of prophylactic and therapeutic measures...
September 8, 2023: Journal of Clinical Medicine
#28
JOURNAL ARTICLE
Ejaife O Agbani, Daniel Young, Si An Chen, Sophie Smith, Adrienne Lee, Alastair W Poole, Antoine Dufour, Man-Chiu Poon
BACKGROUND: The Montreal platelet syndrome kindred (MPS) with VWF p.V1316M mutation (2B-VWDMPS) is an extremely rare disorder. It has been associated with macrothrombocytopenia, spontaneous platelet clumping, mucocutaneous, and other bleeding, which can be largely prevented by von Willebrand factor (VWF) concentrate infusion. However, supplemental platelet transfusion has been required on occasion, particularly for severe gastrointestinal bleeds. This raised the question of whether a previously uncharacterized platelet dysfunction contributes to bleeding diathesis in 2B-VWDMPS patients...
September 21, 2023: Commun Med (Lond)
#29
Shivam Khatri, Geovanna Erazo Villegas, Matthew Smith
Since its advent, the transjugular intrahepatic portosystemic shunt (TIPS) procedure has been accepted as an effective option to treat patients with complications of portal hypertension. While generally considered a safe procedure, TIPs can be associated with certain complications, including inadvertent puncture of the liver capsule with the needle/catheter combination during needle passes. In addition, the accompanying post-TIPS intraperitoneal hemorrhage has not been well reported and guidelines behind its management are not well described...
November 2023: Radiology Case Reports
#30
JOURNAL ARTICLE
Aozhou Wu, A Richey Sharrett, Aaron R Folsom, Alvaro Alonso, Keenan A Walker, Rebecca F Gottesman, Alden L Gross, Andreea M Rawlings, Andrea Lauren Christman Schneider, Josef Coresh
BACKGROUND AND OBJECTIVES: Blood concentrations of hemostatic factors affect thrombosis and bleeding diathesis and may contribute to cognitive impairment through modifiable vascular pathologies. Whether hemostasis, assessed in middle age, is associated with late-life cognitive impairment remains largely unknown in a community-dwelling population. METHODS: Using data from 14,128 participants with cognitive function measurements in 1990-1992 from the Atherosclerosis Risk in Communities study, we assessed the associations of hemostasis measures with 20-year changes in cognitive performance and incident dementia...
October 24, 2023: Neurology
#31
JOURNAL ARTICLE
Joana Infante, Graça Esteves, João Raposo, João Forjaz de Lacerda
Early death (ED) is still the major obstacle to cure in acute promyelocytic leukemia (APL). Most studies focus on 30-day ED; however, little is known on predictors of death before starting APL treatment (very early death - VED) and on predictors of 7-day ED, the period with most deaths due to thrombohemorrhagic diathesis. We hypothesized whether the severity of the coagulopathy of APL could predict VED and 7-day ED. We also aimed to evaluate other characteristics associated with these outcomes. We undertook a retrospective, single-center observational study including newly diagnosed APL patients admitted to our institution between January 2000 and November 2022...
August 31, 2023: Annals of Hematology
#32
JOURNAL ARTICLE
Dashini Pillay, Nadine Rapiti
INTRODUCTION: In acquired hemophilia A (AHA), the body produces auto-antibodies against Factor VIII. Although AHA is rare, with an incidence of 1.5 patients/1 million population/year, there is a strong association with human immunodeficiency virus (HIV) infection. The accurate interpretation of screening coagulation tests is critical to identify patients with AHA, as the mortality rate secondary to bleeding is high. METHODS: This was a retrospective case series which included all newly diagnosed AHA patients that were referred to Hemophilia care unit at King Edward VIII Hospital, Durban, South Africa from January 2011 to December 2021...
2023: Journal of Primary Care & Community Health
#33
JOURNAL ARTICLE
Gautham Prabhakar, Rishi K Gonuguntla, David Momtaz, Christopher Chaput, Grant D Hogue
Ehlers-Danlos syndrome (EDS) is a rare inherited connective tissue disorder characterized by collagen synthesis disruption, resulting in joint hyperlaxity, skin and vascular fragility, and bleeding diathesis. Patients with EDS are susceptible to spinal deformities, with scoliosis accounting for up to 23.4% of musculoskeletal abnormalities. Conservative management is often trialed initially; however, severe scoliosis can lead to significant sagittal imbalance and cardiopulmonary compromise. Surgical intervention for scoliosis correction in patients with EDS presents unique challenges because of tissue fragility and an increased risk of vascular and wound complications...
August 1, 2023: Journal of the American Academy of Orthopaedic Surgeons. Global Research & Reviews
#34
REVIEW
Alaire Buchholz, Keith Hansen, Rachel Rodel
Postpartum hemorrhage (PPH) continues to be one of the leading causes of maternal morbidity and mortality worldwide. The four main causes of PPH are uterine atony, lacerations, retained placenta, and bleeding diathesis. In the patient with PPH, immediate evaluation is needed to diagnose and treat the underlying cause of hemorrhage. Uterotonic agents such as oxytocin remain first line for prevention and treatment of uterine atony. Studies have evaluated the antifibrinolytic tranexamic acid (TXA) as an adjunctive therapy in the prevention and treatment of PPH...
April 2023: South Dakota Medicine: the Journal of the South Dakota State Medical Association
#35
JOURNAL ARTICLE
Lia C M J Goltstein, Maxim J P Rooijakkers, Marlijn Hoeks, Wilson W L Li, Marleen H van Wely, Laura Rodwell, Niels van Royen, Joost P H Drenth, Erwin-Jan M van Geenen
AIMS: Heyde syndrome is the co-occurrence of aortic stenosis, acquired von Willebrand syndrome, and gastrointestinal bleeding. Aortic valve replacement has been demonstrated to resolve all three associated disorders. A systematic review and meta-analysis were performed to obtain best estimates of the effect of aortic valve replacement on acquired von Willebrand syndrome and gastrointestinal bleeding. METHODS AND RESULTS: A literature search was performed to identify articles on Heyde syndrome and aortic valve replacement up to 25 October 2022...
September 1, 2023: European Heart Journal
#36
Laurent Sattler, Jordan Wimmer, Agathe Herb, Anne-Cécile Gerout, Olivier Feugeas, Dominique Desprez
BACKGROUND: Glanzmann thrombasthenia (GT) is a rare congenital platelet function disorder associated with a severe bleeding diathesis. Thrombotic manifestations remain a rare condition. We report here the first case of recurrent venous thromboembolism (VTE) successfully treated with apixaban in a patient with GT. Our patient's morbid obesity was an additional challenge. KEY CLINICAL QUESTION: The Key Clinical Question was to determine if direct oral anticoagulants are suitable for patients with both obesity and GT...
May 2023: Research and Practice in Thrombosis and Haemostasis
#37
Sanya Thomas, Geoffrey Guenther, Jared H Rowe, Craig D Platt, Akiko Shimamura, Ofer Levy, Lakshmi Ganapathi
Severe congenital neutropenia caused by jagunal homolog 1 ( JAGN1 ) mutation is a rare condition resulting from maturation arrest secondary to endoplasmic reticulum stress response from impaired neutrophil protein glycosylation. Here, we report a case of a 4-year-old boy who presented with a history of recurrent infections and manifestations, including recurrent intracranial hemorrhage. A review of similar cases reported in the literature indicates that a bleeding diathesis has not been previously described in these patients...
2023: Frontiers in Pediatrics
#38
JOURNAL ARTICLE
Yan-Hong Sun, Wen-Jian Nie, Dan-Dan Tian, Qing Ye
OBJECTIVE: Children with lupus anticoagulant hypoprothrombinemia syndrome (LAHPS) are characterized by prolonged activated partial thromboplastin time (APTT) and prothrombin time (PT), lupus anticoagulant positivity and low prothrombin (factor II, FII) levels. Bleeding or thrombosis tendencies related to LAHPS in children can occur due to the development of anti-prothrombin antibodies that are usually linked to autoimmune or infectious diseases. METHODS: We report three pediatric cases of LAHPS and describe details on their clinical symptoms, laboratory characteristics, treatment...
September 2023: Lupus
#39
JOURNAL ARTICLE
Roxane Labrosse, Julia Chu, Myriam Armant, John K Everett, Danilo Pellin, Niharika Kareddy, Andrew L Frelinger, Lauren A Henderson, Amy E O'Connell, Amlan Biswas, Jet Coenen-van der Spek, Alexandra Marina Miggelbrink, Claudia Fiorini, Hriju Adhikari, Charles C Berry, Vito Adrian Cantu, Johnson Fong, Jason Roy Jaroslavsky, Derin F Karadeniz, Quan-Zhen Li, Shantan Reddy, Aoife M Roche, Chengsong Zhu, Jennifer S Whangbo, Colleen Dansereau, Brenda L Mackinnon, Emily Morris, Stephanie M Koo, Wendy B London, Safa Baris, Ahmet Ozen, Elif Karakoc-Aydiner, Jenny McDade Despotovic, Lisa R Forbes Satter, Akihiko Saitoh, Yuta Aizawa, Alejandra King, Mai Anh T Nguyen, Vy Do Uyen Vu, Scott B Snapper, Anne Galy, Luigi D Notarangelo, Frederic D Bushman, David A Williams, Sung-Yun Pai
Wiskott-Aldrich syndrome (WAS) is a rare X-linked disorder characterized by combined immunodeficiency, eczema, microthrombocytopenia, autoimmunity, and lymphoid malignancies. Gene therapy (GT) to modify autologous CD34+ cells is an emerging alternative treatment with advantages over standard allogeneic hematopoietic stem cell transplant for patients who lack well-matched donors, avoiding graft-versus-host-disease. We report the outcomes of a phase I/II clinical trial in which 5 patients with severe WAS underwent GT using a self-inactivating lentiviral (SIN-LV) vector expressing the human WAS cDNA under the control of a 1...
July 21, 2023: Blood
#40
Rajesh Bhosle, Dimble Raju, Shamshuddin Senior Patel, Grandhi Aditya, Jagriti Shukla, Nabanita Ghosh, Prasad Krishnan
The spinal subdural space is an avascular, potential space and is a rare location for intraspinal hematomas. Compared to spinal epidural hematomas, spinal subdural hematomas are uncommonly described complications of lumbar puncture for spinal or epidural anesthesia, particularly in patients who have no pre-existing bleeding disorders or history of antiplatelet or anticoagulant intake. We describe a 19-year-old girl who had a large thoracolumbar spinal subdural hematoma following epidural anesthesia for elective cholecystectomy with no pre-existing bleeding diathesis that caused rapidly developing paraplegia that evolved over the next 2 days following surgery...
June 2023: Asian Journal of Neurosurgery
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