keyword
https://read.qxmd.com/read/38759096/the-e592k-variant-of-sf3b1-creates-unique-rna-missplicing-and-associates-with-high-risk-mds-without-ring-sideroblasts
#1
JOURNAL ARTICLE
In Young Choi, Jonathan P Ling, Jian Zhang, Eric Helmenstine, Wencke Walter, Panagiotis Tsakiroglou, Riley E Bergman, Céline Philippe, James L Manley, Kevin Rouault-Pierre, Bing Li, Daniel Howard Wiseman, Kiran Batta, Madhu M Ouseph, Elsa Bernard, Benjamin Dubner, Xiao Li, Torsten Haferlach, Anna Koget, Salman Fazal, Tania Jain, Christopher D Gocke, Amy E DeZern, William Brian Dalton
Among the most common genetic alterations in the myelodysplastic syndromes (MDS) are mutations in the spliceosome gene SF3B1. Such mutations induce specific RNA missplicing events, directly promote ring sideroblast (RS) formation, and generally associate with more favorable prognosis. However, not all SF3B1 mutations are the same, and little is known about how distinct hotspots influence disease. Here we report that the E592K variant of SF3B1 associates with high-risk disease features in MDS, including a lack of RS, increased myeloblasts, a distinct co-mutation pattern, and a lack of the favorable survival seen with other SF3B1 mutations...
May 17, 2024: Blood Advances
https://read.qxmd.com/read/38758879/malnutrition-in-sickle-cell-anemia-prevalence-impact-and-interventions-a-review
#2
REVIEW
Emmanuel Ifeanyi Obeagu, Getrude Uzoma Obeagu
Sickle Cell Anemia (SCA) is a hereditary hemoglobinopathy characterized by chronic hemolytic anemia, vaso-occlusive events, and a wide range of clinical complications. Malnutrition, often an underexplored aspect of this complex condition, plays a critical role in disease management and overall patient well-being. This publication provides a comprehensive review of the prevalence, impact, and interventions related to malnutrition in individuals with SCA. A thorough literature review reveals the multifaceted challenges faced by SCA patients in maintaining adequate nutrition...
May 17, 2024: Medicine (Baltimore)
https://read.qxmd.com/read/38757968/bloodless-cardiac-surgery-in-jehovah-s-witness-a-comprehensive-review
#3
JOURNAL ARTICLE
Darshil Kumar Maheta, William H Frishman, Wilbert S Aronow
This article explores the major challenges and specialized strategies involved in managing cardiovascular surgery patients who are Jehovah's Witnesses and refuse blood transfusions due to their religious beliefs. It delves into preoperative, intraoperative, and postoperative approaches aimed at minimizing blood loss and optimizing patient outcomes while respecting their autonomy. Preoperative measures focus on correcting anemia and coagulopathy through targeted interventions, such as iron supplementation and erythropoietin therapy, and meticulous screening for bleeding disorders...
May 17, 2024: Cardiology in Review
https://read.qxmd.com/read/38757668/endoscopic-management-of-recurrent-epistaxis-caused-by-retiform-hemangioendothelioma-in-a-child-a-case-report
#4
JOURNAL ARTICLE
Baicheng Xu, Huan Tan, Panpan Bian
Retiform hemangioendothelioma (RH) is a rare intermediate (locally aggressive) vascular tumor that mostly affects the dermis of the trunk and limbs, but has never been reported in the inferior turbinate. A 10-year-old Chinese boy presented with recurrent epistaxis in his left nasal cavity and anemia for more than 2 years. Radiographic and electronic video laryngoscopic images showed an expansile mass in the left inferior turbinate. Endoscopic surgery and electrocautery were performed to resect the tumor beyond the macroscopic border...
May 17, 2024: Ear, Nose, & Throat Journal
https://read.qxmd.com/read/38757488/treatment-of-newly-diagnosed-severe-aplastic-anemia-in-children-evidence-based-recommendations
#5
REVIEW
Kristin A Shimano, Jennifer A Rothman, Steven W Allen, Paul Castillo, Jill L O de Jong, Yigal Dror, Amy E Geddis, Bonnie W Lau, Catherine McGuinn, Anupama Narla, Kathleen Overholt, Maria A Pereda, Anjali Sharathkumar, Ghadir Sasa, Taizo A Nakano, Kasiani Myers, Nicholas J Gloude, Larisa Broglie, Jessica Boklan
Severe aplastic anemia (SAA) is a rare potentially fatal hematologic disorder. Although overall outcomes with treatment are excellent, there are variations in management approach, including differences in treatment between adult and pediatric patients. Certain aspects of treatment are under active investigation in clinical trials. Because of the rarity of the disease, some pediatric hematologists may have relatively limited experience with the complex management of SAA. The following recommendations reflect an up-to-date evidence-based approach to the treatment of children with newly diagnosed SAA...
May 16, 2024: Pediatric Blood & Cancer
https://read.qxmd.com/read/38756782/case-report-decreased-hemoglobin-and-multiple-organ-failure-caused-by-ceftizoxime-induced-immune-hemolytic-anemia-in-a-chinese-patient-with-malignant-rectal-cancer
#6
Can Lou, Meng Liu, Ting Ma, Liu Yang, Dan Long, Jiaming Li, Hang Lei, Dong Xiang, Xuefeng Wang, Lei Li, Xiaohong Cai
BACKGROUND: Drug-induced immune hemolytic anemia (DIIHA) is a rare but serious condition, with an estimated incidence of one in 100,000 cases, associated with various antibiotics. This study reports on a case of ceftizoxime-induced hemolysis observed in a patient in China. CASE DESCRIPTION: A Chinese patient diagnosed with malignant rectal cancer underwent antimicrobial therapy after laparoscopic partial recto-sigmoid resection (L-Dixon). After receiving four doses of ceftizoxime, the patient developed symptoms including rash, itchy skin, and chest distress, followed by a rapid decline in hemoglobin levels, the presence of hemoglobin in the urine (hemoglobinuria), renal failure, and disseminated intravascular coagulation...
2024: Frontiers in Immunology
https://read.qxmd.com/read/38756386/survival-incidence-and-predictors-of-diabetic-neuropathy-among-type-2-diabetic-patients-in-hospitals-of-addis-ababa
#7
JOURNAL ARTICLE
Eden Tilahun, Abdata Workina, Asaminew Habtamu, Hailu Tufa, Fikadu Abebe, Ayele Fikadu, Fulea Atomsa
BACKGROUND: Diabetic neuropathy is a very common complication of diabetes mellitus. Thus, measuring the incidence of diabetic neuropathy is a key element in tracking the progress of epidemics of diabetes mellitus and an indication of early accessibility for healthcare in terms of type 2 diabetic patients. OBJECTIVE: To assess survival, incidence, and predictors of diabetic neuropathy among type 2 diabetic patients in hospitals of Addis Ababa from June 25 to August 25, 2023...
2024: Front Clin Diabetes Healthc
https://read.qxmd.com/read/38755555/a-rare-case-of-iga-lambda-multiple-myeloma-in-a-32-year-old-woman-with-t-14-16-translocation-associated-with-kidney-injury-and-non-albumin-proteinuria
#8
JOURNAL ARTICLE
Ranim Razzouk, Nour Khattab, Maysaa Hoteit, Hala Kfoury, Mustafa Saleh, Bassem Tanios, Jean El Cheikh, Samir Mallat
BACKGROUND: Multiple myeloma (MM) is a malignant disorder characterized by monoclonal differentiated plasma cells. While it is more commonly diagnosed in elderly individuals, it can also affect younger populations, though with a lower incidence. CASE PRESENTATION: Here, we present the case of a 32-year-old woman diagnosed with IgA lambda MM. She presented with fatigue, nausea, acute kidney injury (AKI) with a rapid increase in creatinine, and anemia. A kidney biopsy was done to rule out a rapidly progressive glomerular disease and a diagnosis was thus reached...
May 16, 2024: BMC Nephrology
https://read.qxmd.com/read/38753357/a-humanized-focus-on-sickle-cell-pain
#9
EDITORIAL
Katelyn E Sadler, Theodore J Price
No abstract text is available yet for this article.
May 16, 2024: Blood
https://read.qxmd.com/read/38751919/endovascular-treatment-for-cerebral-venous-sinus-thrombosis-comparison-among-different-endovascular-procedures
#10
JOURNAL ARTICLE
S Anush Rangarajan, Dileep Ramachandran, Tanaya Mishra, Vikneshwaran Gunaseelan, Gopal K Dash, Vivek J Philip, Radhika Manohar, Kuldeep Shetty, Pavin Thomas, Vikram Huded
BACKGROUND: Cerebral venous sinus thrombosis (CVST) is a rare, treatable cause of stroke. Even though CVST has an established medical treatment, 15% of patients remain refractory to treatment. These patients may be candidates for endovascular treatment (EVT), yet the selection of patients remains a challenge. The study aims to understand the profile and outcome of patients treated with EVT and the type of procedure associated with good outcomes. METHODS: This is a single-center, retrospective analysis of CVST patients who underwent EVT from 2009 till 2022...
2024: Annals of Indian Academy of Neurology
https://read.qxmd.com/read/38749866/the-biology-and-pathogenesis-of-vivax-malaria
#11
REVIEW
Nicholas M Anstey, Wai-Hong Tham, G Dennis Shanks, Jeanne R Poespoprodjo, Bruce M Russell, Steven Kho
Plasmodium vivax contributes significantly to global malaria morbidity. Key advances include the discovery of pathways facilitating invasion by P. vivax merozoites of nascent reticulocytes, crucial for vaccine development. Humanized mouse models and hepatocyte culture systems have enhanced understanding of hypnozoite biology. The spleen has emerged as a major reservoir for asexual vivax parasites, replicating in an endosplenic life cycle, and contributing to recurrent and chronic infections, systemic inflammation, and anemia...
May 14, 2024: Trends in Parasitology
https://read.qxmd.com/read/38748265/management-of-hematological-patients-requiring-emergency-chemotherapy-in-the-intensive-care-unit
#12
REVIEW
Antoine Lafarge, Dara Chean, Livia Whiting, Raphaël Clere-Jehl
Hematological malignancies may require rapid-onset treatment because of their short doubling time, notably observed in acute leukemias and specific high-grade lymphomas. Furthermore, in targeted onco-hematological scenarios, chemotherapy is deemed necessary as an emergency measure when facing short-term, life-threatening complications associated with highly chemosensitive hematological malignancies. The risks inherent in the disease itself, or in the initiation of treatment, may then require admission to the intensive care unit (ICU) to optimize monitoring and initial management protocols...
May 15, 2024: Intensive Care Medicine
https://read.qxmd.com/read/38746672/bibliometric-and-visualization-analyses-of-cancer-related-fatigue-research-published-worldwide-from-2001-to-2023
#13
Peijin Li, Qian Wang, Li Feng, Zhiguo Ding, Weijing Fan
OBJECTIVE: Cancer seriously endangers human health and represents a global public health issue. Cancer-related fatigue (CRF) is a distressing and persistent sense of exhaustion caused by cancer or cancer treatment, widely prevalent among cancer patients. This study aims to summarize emerging trends and provide directions for future research of CRF through bibliometric and visualization analyses. METHODS: A systematic search in the Web of Science Core Collection database from 2001-01-01 to 2023-05-18 were conducted...
2024: Frontiers in Oncology
https://read.qxmd.com/read/38745964/global-regional-and-national-burden-of-thalassemia-1990-2021-a-systematic-analysis-for-the-global-burden-of-disease-study-2021
#14
JOURNAL ARTICLE
Yuanyuan Tuo, Yang Li, Yan Li, Jianjuan Ma, Xiaoyan Yang, Shasha Wu, Jiao Jin, Zhixu He
BACKGROUND: Anemia is a significant contributor to the global disease burden, of which thalassemia is the most common hereditary anaemic disease. Previous estimates were based on data that were geographically limited and lacked comprehensive global analysis. This study provides the prevalence, incidence, mortality and disability-adjusted life years (DALYs) of thalassemia in 204 countries and regions of thalassemia between 1990 and 2021, focusing on the age structure and time trends of the disease burden...
June 2024: EClinicalMedicine
https://read.qxmd.com/read/38745658/a-case-report-of-igg4-related-hepatic-inflammatory-pseudotumor-in-a-3-year-old-boy
#15
JOURNAL ARTICLE
Qian Wan, Zhongjin Xu, Xiaohui Liu, Zhuqiang Wu, Qingmei Zhong, Chongjun Wu
BACKGROUND: Hepatic Inflammatory Pseudotumor (IPT) is an infrequent condition often masquerading as a malignant tumor, resulting in misdiagnosis and unnecessary surgical resection. The emerging concept of IgG4-related diseases (IgG4-RD) has gained widespread recognition, encompassing entities like IgG4-related hepatic IPT. Clinically and radiologically, corticosteroids and immunosuppressive therapies have proven effective in managing this condition. CASE PRESENTATION: A 3-year-old Chinese boy presented to the clinic with an 11-month history of anemia, fever of unknown origin, and a tender hepatic mass...
2024: Frontiers in Immunology
https://read.qxmd.com/read/38745410/uncommon-toxic-epidermal-necrolysis-like-presentation-of-cutaneous-lupus-erythematosus-a-series-of-6-cases
#16
JOURNAL ARTICLE
Varun Rajagopal, Anupama Bains, Karthick Kannan, Abhishek Bhardwaj, Poonam Elhence
TEN like Lupus erythematosus is an uncommon life-threatening variant of Lupus erythematosus. It is usually associated with flares of systemic lupus erythematosus and also because of widespread skin erosions, it can cause acute skin failure. It is often confused with drug induced TEN, however the management of both the diseases is different and hence correct diagnosis becomes crucial. In this study we aimed to assess the clinical characteristics and outcome of TEN like LE in the Indian population. All patients satisfying ACR/EULAR 2019 criteria for SLE and clinically diagnosed with TEN like LE were retrospectively reviewed...
May 14, 2024: Lupus
https://read.qxmd.com/read/38743880/how-i-manage-pregnant-patients-who-are-alloimmunized-to-rbc-antigens
#17
JOURNAL ARTICLE
Helen Frances Savoia, Anna Parakh, Stefan Charles Kane
Hemolytic disease of the fetus and newborn (HDFN) remains an important cause of perinatal morbidity and mortality. HDFN is caused by maternal alloimmunization to red blood cell (RBC) antigens. This article describes and highlights issues in the care of pregnant women with red blood cell (RBC) alloimmunization. This includes monitoring for, and management of fetal anemia caused by maternal red cell alloantibodies, but also considerations for transfusion support for the woman in the event of major bleeding. Many aspects of care for women with RBC alloantibodies are not covered within specific guidelines, particularly with respect to best practice for antenatal management of women with prior significant obstetric morbidity or mortality due to HDFN, and we will outline our approach in these cases...
May 14, 2024: Blood
https://read.qxmd.com/read/38743407/new-horizons-in-emergency-department-management-of-pediatric-sickle-cell-disease
#18
EDITORIAL
(no author information available yet)
No abstract text is available yet for this article.
May 1, 2024: Pediatric Emergency Care
https://read.qxmd.com/read/38743406/new-horizons-in-emergency-department-management-of-pediatric-sickle-cell-disease
#19
REVIEW
Jasmine Umana, Ajibike Lapite, Angela M Ellison
Sickle cell disease (SCD) is an important topic for emergency medicine audiences because complications of the disease account for a large proportion of hematologic emergencies that are seen in the emergency department each year. Early recognition and aggressive management of emergency complications of SCD can help to reduce the morbidity and mortality associated with this disease. Although the treatment recommendations for some complications of SCD are based on expert opinion, there has been advancement in the understanding of the pathogenesis of the disease and evidence regarding the treatment options available for managing acute complications...
May 1, 2024: Pediatric Emergency Care
https://read.qxmd.com/read/38742736/complications-of-transcatheter-paravalvular-leak-device-closure-of-mitral-valve-an-updated-review-of-the-literature-and-a-rare-case-presentation
#20
REVIEW
Yaser Jenab, Saeed Nourian, Negin Sadat Hosseini Mohammadi, Reza Mohseni-Badalabadi, Kaveh Hosseini, Sarina Zakavi, Ismail Ates
Paravalvular leak (PVL) is an uncommon complication of prosthetic valve implantation, which can lead to infective endocarditis, heart failure, and hemolytic anemia. Surgical reintervention of PVLs is associated with high mortality rates. Transcatheter PVL closure (TPVLc) has emerged as an alternative to surgical reoperation. This method provides a high success rate with a low rate of complications. This article reviews the pathogenesis, clinical manifestation, diagnosis, and management of PVL and complications following TPVLc...
May 2024: Clinical Cardiology
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