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Safety And Efficacy Of Voxelotor In Pediatric Patients With Sickle Cell Disease Aged 4 To 11 Years., Jeremie H. Estepp, Ram Kalpatthi, Gerald Woods, Sara Trompeter, Robert I. Liem, Kacie Sims, Adlette Inati, Baba P D Inusa, Andrew Campbell, Connie Piccone, Miguel R. Abboud, Kim Smith-Whitley, Sandra Dixon, Margaret Tonda, Carla Washington, Noelle M. Griffin, Clark Brown 2022 Children's Mercy Kansas City

Safety And Efficacy Of Voxelotor In Pediatric Patients With Sickle Cell Disease Aged 4 To 11 Years., Jeremie H. Estepp, Ram Kalpatthi, Gerald Woods, Sara Trompeter, Robert I. Liem, Kacie Sims, Adlette Inati, Baba P D Inusa, Andrew Campbell, Connie Piccone, Miguel R. Abboud, Kim Smith-Whitley, Sandra Dixon, Margaret Tonda, Carla Washington, Noelle M. Griffin, Clark Brown

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Sickle cell disease (SCD) is a devastating, multisystemic disorder that affects millions of people worldwide. The earliest clinical manifestations of SCD can affect infants as young as 6 months of age, and pediatric patients are at risk for acute and life-threatening complications. Early intervention with treatments that target the underlying pathophysiological mechanism of SCD, sickle hemoglobin (HbS) polymerization, are expected to slow disease progression and circumvent disease-associated morbidity and mortality.

PROCEDURE: The HOPE-KIDS 1 trial (NCT02850406) is an ongoing four-part, phase 2a, open-label, single- and multiple-dose study to evaluate the pharmacokinetics, efficacy, and safety of voxelotor-a first-in-class HbS polymerization ...


Recurrence Of Thrombotic Thrombocytopenic Purpura After Vaccination With Mrna-1273 Covid-19 Vaccine, Spyridon Ntelis, Kathryn Champ 2022 Internal Medicine, University of Maryland Medical Center Midtown Campus, Baltimore, USA

Recurrence Of Thrombotic Thrombocytopenic Purpura After Vaccination With Mrna-1273 Covid-19 Vaccine, Spyridon Ntelis, Kathryn Champ

Journal of Community Hospital Internal Medicine Perspectives

Thrombotic thrombocytopenic purpura (TTP) is a rare disease characterized by thrombocytopenia, microangiopathic hemolytic anemia, and ischemic organ damage. Several cases of TTP associated with administration of COVID-19 vaccines have been reported. We report a case of a 63-year-old woman with a past medical history of hypertension, diabetes mellitus, chronic kidney disease, HIV infection, and remote history of TTP who presented with several days of shortness of breath on exertion, chest tightness, low-grade fever, and bruising thirty-three days after receiving the second dose of the mRNA-1273 COVID-19 vaccine. Thrombocytopenia and hemolytic anemia with schistocytes were noted on testing, and ADAMTS13 activity ...


Chemotherapy Port Induced Svc Thrombosis In A Patient With Non-Metastatic Breast Cancer, Brooke Kania, Erinie Mekheal, Moutaz Ghrewati, Nader Mekheal, Jalal Koj, Alisa Farokhian, Michael Maroules 2022 Department of Internal Medicine, St. Joseph’s University Medical Center, 703 Main Street, Paterson, NJ 7503

Chemotherapy Port Induced Svc Thrombosis In A Patient With Non-Metastatic Breast Cancer, Brooke Kania, Erinie Mekheal, Moutaz Ghrewati, Nader Mekheal, Jalal Koj, Alisa Farokhian, Michael Maroules

Journal of Community Hospital Internal Medicine Perspectives

Cancer patients are at a higher risk of complications such as venous thromboembolism (VTE). This risk increases in patients who receive chemotherapy. Despite the increased risk, common locations for VTE are similar to those in patients without cancer. Chemotherapy-port-related thrombosis represents a rare complication due to the location and frequent use of access (with Heparin flushes) as part of the standard care. Attention should be made to this rare complication, which may progress to superior vena cava (SVC) syndrome. SVC syndrome typically presents in females around the age of 57 years old. Management of this syndrome can be difficult and ...


A Pilot Phase Ib/Ii Study Of Whole-Lung Low Dose Radiation Therapy (Ldrt) For The Treatment Of Severe Covid-19 Pneumonia: First Experience From Africa, Mansoor Saleh, Karishma Sharma, Jasmit Shah, Farrok Karsan, Angela Waweru, Martin Musumbi, Reena Shah, Shahin Sayed, Innocent Abayo, Noureen Karimi, Stacey Gondi, Sehrish Rupani, Grace Kirathe, Heldah Amariati 2022 Aga Khan University

A Pilot Phase Ib/Ii Study Of Whole-Lung Low Dose Radiation Therapy (Ldrt) For The Treatment Of Severe Covid-19 Pneumonia: First Experience From Africa, Mansoor Saleh, Karishma Sharma, Jasmit Shah, Farrok Karsan, Angela Waweru, Martin Musumbi, Reena Shah, Shahin Sayed, Innocent Abayo, Noureen Karimi, Stacey Gondi, Sehrish Rupani, Grace Kirathe, Heldah Amariati

Internal Medicine, East Africa

Background: Low dose radiation therapy (LDRT) has been used for non-malignant conditions since early 1900s based on the ability of single fractions between 50–150 cGy to inhibit cellular proliferation. Given scarcity of resources, poor access to vaccines and medical therapies within low and middle income countries, there is an urgent need to identify other cost-effective alternatives in management of COVID-19 pneumonia. We conducted a pilot phase Ib/II investigator-initiated clinical trial to assess the safety, feasibility, and toxicity of LDRT in patients with severe COVID-19 pneumonia at the Aga Khan University Hospital in Nairobi, Kenya. Additionally, we also assessed ...


Emicizumab-Kxwh: A Critical Review, Kiera O'Leary 2022 Munster Technological University, Rossa Ave, Bishopstown, Cork, Ireland, T12 P928

Emicizumab-Kxwh: A Critical Review, Kiera O'Leary

International Undergraduate Journal of Health Sciences

The first descriptions of haemophilia A were reported in the second century AD, with the first modern description by John Conrad Otto in 1803. Historically, the natural history of haemophilia A was associated with very high rates morbidity and mortality, often following trivial accidents. Although treatment options for haemophilia A have been revolutionised in recent decades, haemophilia A remains a hereditary disease of concern and factor replacement products remain the mainstay of treatment.

As such, patients with haemophilia can carry huge burdens, particularly when a complication such as a FVIII inhibitor is present. A recently approved novel therapeutic, Emicizumab-kxwh, has ...


Igm Multiple Myeloma: A Rare Clinical Entity And Diagnostic Dilemma, Keerthy Joseph, Alison Greidinger, Marjan Koch, Eric Behling, Tulin Budak-Alpdogan 2022 Mercy Catholic Medical Center

Igm Multiple Myeloma: A Rare Clinical Entity And Diagnostic Dilemma, Keerthy Joseph, Alison Greidinger, Marjan Koch, Eric Behling, Tulin Budak-Alpdogan

Cooper Rowan Medical Journal

IgM multiple myeloma is a rare disease that shares many common features with Waldenström macroglobulinemia and lymphoplasmacytic lymphoma. It has been described in the literature as having unique diagnostic findings that separate it from the more common IgG and IgA myelomas. It is important for physicians to be able to differentiate between IgM multiple myeloma, Waldenström macroglobulinemia and lymphoplasmacytic lymphoma as their treatments vastly differ. This case report describes the clinical presentation of a patient with IgM lambda multiple myeloma and highlights the pathologic and clinical findings that are specific to this rare entity. We aim to provide further evidence ...


Case Series: Bone Marrow Failure In Teen Siblings With Unique Rps19 Variant, Alexandra Prosser 2022 Children's Mercy Kansas City

Case Series: Bone Marrow Failure In Teen Siblings With Unique Rps19 Variant, Alexandra Prosser

Research Days

Background: Upon diagnosis of aplastic anemia, inherited bone marrow failure syndromes and acquired etiologies must be considered. Investigating causality is particularly important when multiple family members are affected. It is also essential to identify novel causative genetic variants of bone marrow failure to direct treatment in these patients.

Objectives: To describe the diagnosis and management of siblings who presented two weeks apart with severe pancytopenia and were diagnosed with severe aplastic anemia.

Methods: The first patient is a 13-year-old non-binary female who presented with severe pancytopenia on routine labs. Bone marrow biopsy revealed marked hypocellularity (0-10%) with hypoplasia. The second ...


Primary Venous Thromboprophylaxis In Pediatric Oncology Patients, Kyra McCarty 2022 Children's Mercy Hospital

Primary Venous Thromboprophylaxis In Pediatric Oncology Patients, Kyra Mccarty

Research Days

Background: The Virchow’s Triad principles of venous stasis, endothelial damage, and hypercoagulability are all features of malignancy and contribute to the increased risk venous thromboembolism (VTE) seen in oncology patients. Additionally, certain chemotherapy treatments, presence of a central venous catheter and immobility are also intrinsically associated with malignancy diagnoses and exacerbate this risk. However, much debate exists over the use of thromboprophylaxis in the pediatric population, primarily due to lack of evidence regarding safety and efficacy, primarily the risk of major bleeding. Multiple retrospective studies have attempted to identify the primary risk factors for VTE in this pediatric oncology ...


A Novel Approach To Triosephosphate Isomerase Deficiency, Kyra McCarty 2022 Children's Mercy Hospital

A Novel Approach To Triosephosphate Isomerase Deficiency, Kyra Mccarty

Research Days

Background: Triosephosphate isomerase deficiency (TPID) is a glycolytic pathway enzymopathy causing hemolytic anemia and neurologic dysfunction. TPID is caused by mutations in the TPI1 gene. These patients experience severe hemolytic anemia in infancy followed by progressive neurodegeneration. Diagnosis of TPID is made by measuring decreased TPI enzyme activity elevated dihydroxyacetone phosphate (DHAP) levels in the blood. The diagnosis is confirmed by molecular genetic testing. Neurological involvement typically manifests between 6 and 24 months of age, causing progressive motor dysfunction. Chronic axonal neuropathy is often present on nerve biopsy, and peripheral neuropathy is evident on electrophysiologic studies. Splenectomy and blood transfusions ...


Individuals With Sickle Cell Disease Using Sbar As A Communication Tool: Secondary Data Analysis, Deborah M. Jean-Baptiste 2022 UMass Chan Medical School

Individuals With Sickle Cell Disease Using Sbar As A Communication Tool: Secondary Data Analysis, Deborah M. Jean-Baptiste

Tan Chingfen Graduate School of Nursing Dissertations

Purpose: The purpose of this study was to determine the usefulness of SBAR-cued web-based communication skills training and address study participants' perceptions of the training.

Specific Aims:

  1. Evaluate the usefulness and accuracy of participants to answer prompts of SBAR-cued communication responses.
  2. Describe individuals' perspectives of the acceptability of using SBAR patient-HCP communication simulation to better prepare for ED visits during a SCC.

Framework: This study was guided by The Theory of Self-Care Management for Sickle Cell Disease (SCMSCD).

Design: A secondary analysis was conducted using a qualitative descriptive approach. Inter-rater reliability (IRR) of qualitative data was used to evaluate the ...


Role Of Extracellular Vesicles In Glia-Neuron Intercellular Communication, Shahzad Ahmad, Rohit K Srivastava, Pratibha Singh, Ulhas P. Naik, Amit K Srivastava 2022 Jamia Hamdard University

Role Of Extracellular Vesicles In Glia-Neuron Intercellular Communication, Shahzad Ahmad, Rohit K Srivastava, Pratibha Singh, Ulhas P. Naik, Amit K Srivastava

Department of Medicine Faculty Papers

Cross talk between glia and neurons is crucial for a variety of biological functions, ranging from nervous system development, axonal conduction, synaptic transmission, neural circuit maturation, to homeostasis maintenance. Extracellular vesicles (EVs), which were initially described as cellular debris and were devoid of biological function, are now recognized as key components in cell-cell communication and play a critical role in glia-neuron communication. EVs transport the proteins, lipids, and nucleic acid cargo in intercellular communication, which alters target cells structurally and functionally. A better understanding of the roles of EVs in glia-neuron communication, both in physiological and pathological conditions, can aid ...


G Protein-Coupled Receptor Kinase 5 Regulates Thrombin Signaling In Platelets Via Par-1., Kate Downes, Xuefei Zhao, Nicholas S Gleadall, Harriet McKinney, Carly Kempster, Joana Batista, Patrick L Thomas, Matthew Cooper, James V Michael, Roman Kreuzhuber, Katherine Wedderburn, Kathryn Waller, Bianca Varney, Hippolyte Verdier, Neline Kriek, Sofie E Ashford, Kathleen E Stirrups, Joanne L Dunster, Steven E McKenzie, Willem H Ouwehand, Jonathan M Gibbins, Jing Yang, William J Astle, Peisong Ma 2022 University of Cambridge

G Protein-Coupled Receptor Kinase 5 Regulates Thrombin Signaling In Platelets Via Par-1., Kate Downes, Xuefei Zhao, Nicholas S Gleadall, Harriet Mckinney, Carly Kempster, Joana Batista, Patrick L Thomas, Matthew Cooper, James V Michael, Roman Kreuzhuber, Katherine Wedderburn, Kathryn Waller, Bianca Varney, Hippolyte Verdier, Neline Kriek, Sofie E Ashford, Kathleen E Stirrups, Joanne L Dunster, Steven E Mckenzie, Willem H Ouwehand, Jonathan M Gibbins, Jing Yang, William J Astle, Peisong Ma

Cardeza Foundation for Hematologic Research

The interindividual variation in the functional response of platelets to activation by agonists is heritable. Genome-wide association studies (GWASs) of quantitative measures of platelet function have identified fewer than 20 distinctly associated variants, some with unknown mechanisms. Here, we report GWASs of pathway-specific functional responses to agonism by adenosine 5'-diphosphate, a glycoprotein VI-specific collagen mimetic, and thrombin receptor-agonist peptides, each specific to 1 of the G protein-coupled receptors PAR-1 and PAR-4, in subsets of 1562 individuals. We identified an association (P = 2.75 × 10-40) between a common intronic variant, rs10886430, in the G protein-coupled receptor kinase 5 gene (GRK5 ...


Extranodal Rosai-Dorfman Disease- A Review Of Diagnostic Testing And Management., Imad ud Deen, Abhinandan Chittal, Nabil Badro, Robert Jones, Christopher Haas 2022 Medstar Health Internal Medicine Residency Program

Extranodal Rosai-Dorfman Disease- A Review Of Diagnostic Testing And Management., Imad Ud Deen, Abhinandan Chittal, Nabil Badro, Robert Jones, Christopher Haas

Journal of Community Hospital Internal Medicine Perspectives

Rosai-Dorfman disease (RDD) is a rare, benign histiocytic proliferative disorder primarily occurring in the lymph nodes. Extranodal disease can occur in skin and soft tissue, central nervous system, gastrointestinal tract, and breast. Here we present a case of a 55-year-old female with a history of hypertension, hyperlipidemia, and diabetes mellitus who presented with a fixed solid mass localized to the right medial thigh. Excision revealed S100 and CD 68 positive scattered lymphoid aggregates and emperipolesis, hallmark molecular and cytopathologic features of RDD. RDD is a nonmalignant, classically sporadic histiocytosis. Clinical outcome in terms of mortality seems to be favorable in ...


Laboratory Findings In Covid-19 - Alterations Of Hematological, Immunological, Biochemical, Hormonal And Other Lab Panels: A Narrative Review, Yousef Rasmi, Lucas Paulo Jacinto Saavedra, Matei-Alexandru Cozma, Heba El-Nashar, Shaza Aly, Nouran Fahmy, Omayma Eldahshan, Mohamed El-Shazly, Elena Codruța Dobrică, Hamed Kord-Varkaneh, Camelia Cristina Diaconu, Mihnea Alexandru Găman 2022 Carol Davila University of Medicine and Pharmacy

Laboratory Findings In Covid-19 - Alterations Of Hematological, Immunological, Biochemical, Hormonal And Other Lab Panels: A Narrative Review, Yousef Rasmi, Lucas Paulo Jacinto Saavedra, Matei-Alexandru Cozma, Heba El-Nashar, Shaza Aly, Nouran Fahmy, Omayma Eldahshan, Mohamed El-Shazly, Elena Codruța Dobrică, Hamed Kord-Varkaneh, Camelia Cristina Diaconu, Mihnea Alexandru Găman

Journal of Mind and Medical Sciences

Up to the present date, according to the official reports of the World Health Organization (WHO), 205,338,159 patients have been confirmed with the coronavirus disease (COVID-19) and 4,333,094 have died as a consequence of this infectious disorder. The majority of COVID-19 patients will develop hematological, biochemical, immunological, hormonal and other complex alterations of their laboratory data which may be diagnosed using different biomarkers. In this paper, we review the alterations of the hematology, immunology, biochemistry, hormonal and other laboratory panels discovered in the subjects diagnosed with SARS-CoV-2 infection, based on the available data in the literature.


The Involvement Of Oxidative Stress In Non-Hodgkin’S Lymphomas; A Review Of The Literature, Ramona Ingrid Corbeanu, Amelia Maria Găman 2022 University of Medicine and Pharmacy of Craiova, Department of Pathophysiology, Craiova, Romania

The Involvement Of Oxidative Stress In Non-Hodgkin’S Lymphomas; A Review Of The Literature, Ramona Ingrid Corbeanu, Amelia Maria Găman

Journal of Mind and Medical Sciences

Non-Hodgkin’s malignant lymphomas are a heterogeneous group of hematological malignancies, characterized by a variety of clinical, morphological, histopathological, immuno-histochemical, molecular and evolutionary features. They represent a form of cancer that develops from the lymphatic tissue, as a result of the malignant transformation of B (85%) or T (15%) lymphocytes. Lymphomagenesis is described as a multi-stage process involving the mutation and proliferation of cell clones. Oxidative stress is defined as an imbalance of cellular redox status caused by the production of reactive oxygen species (ROS) and/ or by decreasing antioxidant systems that allows their accumulation in the cell. Small quantities ...


Intelligent Malingering In The Setting Of Porphyria Variegata: A Rare Occurrence On Both Fronts, Gersham J. Rainone, Oleg E. Reznik, Mahrukh Majeed, Alina Popa 2022 Drexel University College of Medicine

Intelligent Malingering In The Setting Of Porphyria Variegata: A Rare Occurrence On Both Fronts, Gersham J. Rainone, Oleg E. Reznik, Mahrukh Majeed, Alina Popa

Transformative Medicine (T-Med)

Malingering can be a difficult diagnosis to discern, especially in patients with well-crafted stories presenting with signs and symptoms that align directly with the literature. This can further become a challenge when a patient is malingering in the setting of a rare disease, where many complaints can be subjective in nature and not entirely testable by physical exam alone. Malingering is responsible for billions of dollars of healthcare waste every single year, and this report can serve as a guide of history elements, signs and symptoms to look out for with patients malingering in the setting of the porphyrias. It ...


The Correlation Of D-Dimer To Stroke Diagnosis Within 24 Hours: A Meta-Analysis, Adeel Ahmad, Zara Islam, Saad Manzoor Ahmad, Zouina Sarfraz, Azza Sarfraz, Miguel Felix, Ivan Cherrez-Ojeda 2022 Shalamar Medical and Dental College

The Correlation Of D-Dimer To Stroke Diagnosis Within 24 Hours: A Meta-Analysis, Adeel Ahmad, Zara Islam, Saad Manzoor Ahmad, Zouina Sarfraz, Azza Sarfraz, Miguel Felix, Ivan Cherrez-Ojeda

Department of Paediatrics and Child Health

Background: Diagnosing D-Dimer early is essential to optimize clinical treatment and quality of life and reduce mortality. This study aims to identify the difference of D-Dimer levels (ng/ml) in patients with stroke within the 6- and 24-h period compared to patients that mimic stroke.
Methods: An electronic database search across PubMed/MEDLINE, Cochrane, Web of Science, CINAHL, EMBASE, and Scopus was conducted until December 10, 2021. Studies were eligible if they included adult patients with stroke compared to stroke mimics or controls reporting D-Dimer values. Quality assessment was conducted using GRADE. The standardized mean difference and 95% confidence intervals ...


The Impact Of Disruptive Physician Behavior On Support Staff And Patients: A Quantitative Secondary Analysis, Michael C. Marino 2022 Abilene Christian University

The Impact Of Disruptive Physician Behavior On Support Staff And Patients: A Quantitative Secondary Analysis, Michael C. Marino

Electronic Theses and Dissertations

In this quantitative secondary analysis, the purpose was to examine the nature of disruptive physician behavior (DPB) from the support staff and patient perspectives. Healthcare staffing shortages existed prior to the global pandemic and have increased, creating importance for employee retention and recruitment. I wanted to understand the impact of physician behavior on staff turnover rates in a private oncology practice, its effect on patient satisfaction rates, and to compare these rates of physicians that display DPB with physicians that do not display this behavior in a private hematology oncology community outpatient setting in the Southwest United States. To answer ...


Lymphoma With Tuberculous Granulomas, Jyoti Mohan Lal, Anila Rashid 2022 Aga Khan University

Lymphoma With Tuberculous Granulomas, Jyoti Mohan Lal, Anila Rashid

Department of Pathology and Laboratory Medicine

Chronic granulomatous inflammation is a common finding in lymphoproliferative disorders (LPDs), but it is important to exclude coexisting mycobacterium tuberculosis (MTB) especially in patients from areas of high endemicity. This case emphasizes the relevance of performing MTB culture on bone marrow exhibiting LPD and concomitant granulomas


Utility Of Blood As The Clinical Specimen For The Diagnosis Of Ocular Toxoplasmosis Using Uracil Dna Glycosylase-Supplemented Loop-Mediated Isothermal Amplification And Real-Time Polymerase Chain Reaction Assays Based On Rep-529 Sequence And B1 Gene, Bahman Rahimi Esboei, Shirzad Fallahi, Mohammad Zarei, Bahram Kazemi, Mehdi Mohebali, Saeedeh Shojaee, Parisa Mousavi, Aref Teimouri, Raziyeh Mahmoudzadeh, Mirataollah Salabati, Hossein Keshavarz Valian 2022 Islamic Azad University

Utility Of Blood As The Clinical Specimen For The Diagnosis Of Ocular Toxoplasmosis Using Uracil Dna Glycosylase-Supplemented Loop-Mediated Isothermal Amplification And Real-Time Polymerase Chain Reaction Assays Based On Rep-529 Sequence And B1 Gene, Bahman Rahimi Esboei, Shirzad Fallahi, Mohammad Zarei, Bahram Kazemi, Mehdi Mohebali, Saeedeh Shojaee, Parisa Mousavi, Aref Teimouri, Raziyeh Mahmoudzadeh, Mirataollah Salabati, Hossein Keshavarz Valian

Wills Eye Hospital Papers

Background: Ocular infection with Toxoplasma gondii is a major preventable cause of blindness, especially in young people. The aim of the present study was to assess detection rate of T. gondii DNA in blood samples of clinically diagnosed of ocular toxoplasmosis using uracil DNA glycosylase-supplemented loop-mediated isothermal amplification (UDG-LAMP) and real-time quantitative PCR (qPCR) based on REP-529 and B1.

Methods: One hundred and seventeen patients with clinically diagnosed ocular toxoplasmosis (OT) were participated in the study as well as 200 control patients. Peripheral blood samples were assessed using UDG-LAMP and qPCR techniques targeting REP-529 and B1.

Results: Detection limits of ...


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