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Blood Jan 2007Celiac disease is a common systemic disorder that can have multiple hematologic manifestations. Patients with celiac disease may present to hematologists for evaluation... (Review)
Review
Celiac disease is a common systemic disorder that can have multiple hematologic manifestations. Patients with celiac disease may present to hematologists for evaluation of various hematologic problems prior to receiving a diagnosis of celiac disease. Anemia secondary to malabsorption of iron, folic acid, and/or vitamin B12 is a common complication of celiac disease and many patients have anemia at the time of diagnosis. Celiac disease may also be associated with thrombocytosis, thrombocytopenia, leukopenia, venous thromboembolism, hyposplenism, and IgA deficiency. Patients with celiac disease are at increased risk of being diagnosed with lymphoma, especially of the T-cell type. The risk is highest for enteropathy-type T-cell lymphoma (ETL) and B-cell lymphoma of the gut, but extraintestinal lymphomas can also be seen. ETL is an aggressive disease with poor prognosis, but strict adherence to a gluten-free diet may prevent its occurrence.
Topics: Anemia; Celiac Disease; Hematologic Diseases; Humans; Splenic Diseases
PubMed: 16973955
DOI: 10.1182/blood-2006-07-031104 -
Blood Nov 2013The development of novel technologies for high-throughput DNA sequencing is having a major impact on our ability to measure and define normal and pathologic variation in... (Review)
Review
The development of novel technologies for high-throughput DNA sequencing is having a major impact on our ability to measure and define normal and pathologic variation in humans. This review discusses advances in DNA sequencing that have been applied to benign hematologic disorders, including those affecting the red blood cell, the neutrophil, and other white blood cell lineages. Relevant examples of how these approaches have been used for disease diagnosis, gene discovery, and studying complex traits are provided. High-throughput DNA sequencing technology holds significant promise for impacting clinical care. This includes development of improved disease detection and diagnosis, better understanding of disease progression and stratification of risk of disease-specific complications, and development of improved therapeutic strategies, particularly patient-specific pharmacogenomics-based therapy, with monitoring of therapy by genomic biomarkers.
Topics: Exome; Genetic Association Studies; Genome-Wide Association Study; Hematologic Diseases; Hematology; High-Throughput Nucleotide Sequencing; Humans
PubMed: 24021670
DOI: 10.1182/blood-2013-07-460337 -
Clinics in Perinatology Sep 2015Necrotizing enterocolitis (NEC) is a leading cause of mortality in preterm infants. This article reviews the immunologic and hematological abnormalities typically seen... (Review)
Review
Necrotizing enterocolitis (NEC) is a leading cause of mortality in preterm infants. This article reviews the immunologic and hematological abnormalities typically seen in infants with NEC, such as elevated plasma cytokine levels, thrombocytopenia, increased or decreased neutrophil counts, low monocyte counts, and anemia. Some of these findings may provide important diagnostic and prognostic information.
Topics: Enterocolitis, Necrotizing; Hematologic Diseases; Humans; Immunity, Innate; Infant, Newborn
PubMed: 26250918
DOI: 10.1016/j.clp.2015.04.014 -
Blood Advances Sep 2021Peripheral blood cytopenias may precede the development of hematological malignancies and frequently pose clinical challenges in the older population. The natural course...
Peripheral blood cytopenias may precede the development of hematological malignancies and frequently pose clinical challenges in the older population. The natural course of (mild) cytopenias during aging and their association with hematological disorders in community-dwelling individuals are not well studied. Within the population-based Lifelines cohort (n = 167729), we studied changes in peripheral blood counts, occurrence of cytopenias, and associated hematological outcomes in the context of aging. Development of hematological malignancies and (cause-specific) mortality were evaluated by linkage to nationwide registries. Anemia and thrombocytopenia emerged with older age, in line with a general age-related decline in these blood counts. For neutropenia, no increase in prevalence with older age was observed. Using standard reference limits to define cytopenias, anemia (hazard ratio [HR], 1.84; 95% confidence interval [CI], 1.59-2.12), thrombocytopenia (HR, 1.58; 95% CI, 1.32-1.89), and, especially the concomitant presence of anemia and thrombocytopenia (HR, 4.75; 95% CI, 2.98-7.55) were associated with inferior overall survival. Only a minor proportion of deaths was explained by diagnosed hematological malignancies, with the majority attributable to other causes. Neutropenia, either isolated (HR, 0.88; 95% CI, 0.73-1.06) or combined with another cytopenia, did not affect overall survival. For individuals aged ≥60 years, 5-year cumulative incidence of hematological malignancies was 0.60% (95% CI, 0.50-0.70), with higher incidences among those with anemia (P < .001) or thrombocytopenia (P < .001) but not neutropenia (P = .201). Highest cumulative incidences of diagnoses and mortality from hematological malignancies were observed in individuals with >1 cytopenia. We conclude that anemia and thrombocytopenia, but not neutropenia, are associated with inferior overall survival of community-dwelling individuals. Hematological malignancies develop in a small fraction of these cases.
Topics: Aged; Aging; Anemia; Hematologic Diseases; Humans; Neutropenia; Thrombocytopenia
PubMed: 34459888
DOI: 10.1182/bloodadvances.2021004355 -
Indian Journal of Dental Research :... 2011The aim of this paper is to review the literature and identify orofacial manifestations of hematological diseases with special reference to hemato-oncologic,... (Review)
Review
The aim of this paper is to review the literature and identify orofacial manifestations of hematological diseases with special reference to hemato-oncologic, immuno-deficiency disorders, and human immunodeficiency virus infection. A computerized literature search using MEDLINE was conducted for published articles on orofacial manifestations of hematological diseases with emphasis on hemato-oncologic and human immunodeficiency virus (HIV) infection. Mesh phrases used in the search were: Oral diseases AND hematological disorders; orofacial diseases AND leukemias; orofacial lesions AND lymphomas; orofacial diseases AND multiple myeloma, orofacial manifestations AND HIV. The Boolean operator "AND" was used to combine and narrow the searches. The full texts of these articles were thoroughly examined. References in these articles also were manually searched non-Medline articles. Only relevant articles were selected for the review. Orofacial manifestation of malignant hematological diseases may present as primary clinical features due to infiltration of orofacial tissues, or as secondary due to the subsequent infiltration of normal bone marrow elements, or tertiary due to the side effects of the treatment. HIV-associated orofacial lesion may be a clinical indicator of HIV infection in otherwise healthy, undiagnosed individuals; an early clinical feature of HIV infection; clinical markers for the classification and staging of HIV disease or may be a predictor of HIV disease progression. Orofacial manifestations of malignant hematological diseases and HIV infection are not uncommon findings in clinical practice. These manifestations may be clinical indicators of hematologic disorders in otherwise healthy, undiagnosed individuals.
Topics: HIV Infections; Hematologic Diseases; Hematologic Neoplasms; Humans; Immunologic Deficiency Syndromes; Leukemia; Lymphoma; Mouth Diseases; Myelodysplastic-Myeloproliferative Diseases; Neoplasms, Plasma Cell
PubMed: 22406715
DOI: 10.4103/0970-9290.93458 -
Scientific Reports Sep 2022Hematological malignancies place individuals at risk of CNS involvement from their hematological disease and opportunistic intracranial infection secondary to...
Hematological malignancies place individuals at risk of CNS involvement from their hematological disease and opportunistic intracranial infection secondary to disease-/treatment-associated immunosuppression. Differentiating CNS infection from hematological disease infiltration in these patients is valuable but often challenging. We sought to determine if statistical models might aid discrimination between these processes. Neuroradiology, clinical and laboratory data for patients with hematological malignancy at our institution between 2007 and 2017 were retrieved. MRI were deep-phenotyped across anatomical distribution, presence of pathological enhancement, diffusion restriction and hemorrhage and statistically modelled with Bayesian-directed probability networks and multivariate logistic regression. 109 patients were studied. Irrespective of a diagnosis of CNS infection or hematological disease, the commonest anatomical distributions of abnormality were multifocal-parenchymal (34.9%), focal-parenchymal (29.4%) and leptomeningeal (11.9%). Pathological enhancement was the most frequently observed abnormality (46.8%), followed by hemorrhage (22.9%) and restricted diffusion (19.3%). Logistic regression could differentiate CNS infection from hematological disease infiltration with an AUC of 0.85 where, with OR > 1 favoring CNS infection and < 1 favoring CNS hematological disease, significantly predictive imaging features were hemorrhage (OR 24.61, p = 0.02), pathological enhancement (OR 0.17, p = 0.04) and an extra-axial location (OR 0.06, p = 0.05). In conclusion, CNS infection and hematological disease are heterogeneous entities with overlapping radiological appearances but a multivariate interaction of MR imaging features may assist in distinguishing them.
Topics: Bayes Theorem; Central Nervous System Diseases; Central Nervous System Infections; Central Nervous System Neoplasms; Hematologic Neoplasms; Humans; Magnetic Resonance Imaging; Retrospective Studies
PubMed: 36138051
DOI: 10.1038/s41598-022-19769-2 -
Haematologica Apr 2017Hematopoietic cell transplantation is a curative treatment for a variety of hematologic diseases. Advances in transplantation technology have reduced early... (Review)
Review
Hematopoietic cell transplantation is a curative treatment for a variety of hematologic diseases. Advances in transplantation technology have reduced early transplant-related mortality and expanded application of transplantation to older patients and to a wider variety of diseases. Management of late effects after transplantation is increasingly important for a growing number of long-term survivors that is estimated to be half a million worldwide. Many studies have shown that transplant survivors suffer from significant late effects that adversely affect morbidity, mortality, working status and quality of life. Late effects include diseases of the cardiovascular, pulmonary, and endocrine systems, dysfunction of the thyroid gland, gonads, liver and kidneys, infertility, iron overload, bone diseases, infection, solid cancer, and neuropsychological effects. The leading causes of late mortality include recurrent malignancy, lung diseases, infection, secondary cancers and chronic graft--host disease. The aim of this review is to facilitate better care of adult transplant survivors by summarizing accumulated evidence, new insights, and practical information about individual late effects. Further research is needed to understand the biology of late effects allowing better prevention and treatment strategies to be developed.
Topics: Bone Marrow Transplantation; Female; Graft vs Host Disease; Hematologic Diseases; Hematopoietic Stem Cell Transplantation; Humans; Male; Postoperative Complications; Survivors; Time Factors
PubMed: 28232372
DOI: 10.3324/haematol.2016.150250 -
Canadian Medical Association Journal May 1976A 40-year-old woman had cryocrystalglobulinemia with IgG2(K1). To date, 27 other cases of spontaneous crystallization of a plasma protein have been reported. In all, the...
A 40-year-old woman had cryocrystalglobulinemia with IgG2(K1). To date, 27 other cases of spontaneous crystallization of a plasma protein have been reported. In all, the protein, a cryoglobulin, has been found to be an IgG molecule. The disease most commonly associated with this phenomenon has been multiple myeloma. None of the patients have had Raynaud's phenomenon, but many have had purpuric skin lesions made worse by exposure to cold. In the two cases of essential cryocrystalglobulinemia, crystals were found in the peripheral blood film. Immunologic, biochemical and ultrastructural studies have so far not demonstrated any property common to all cryocrystalglobulins.
Topics: Adult; Cryoglobulins; Crystallization; Cyclophosphamide; Female; Hematologic Diseases; Humans; Melphalan; Prednisone
PubMed: 1268777
DOI: No ID Found -
Experimental Hematology Jul 2022The transcription factor RUNX1 is essential for correct hematopoietic development; in its absence in the germ line, blood stem cells are not formed. RUNX1 orchestrates... (Review)
Review
The transcription factor RUNX1 is essential for correct hematopoietic development; in its absence in the germ line, blood stem cells are not formed. RUNX1 orchestrates dramatic changes in the chromatin landscape at the onset of stem cell formation, which set the stage for both stem self-renewal and further differentiation. However, once blood stem cells are formed, the mutation of the RUNX1 gene is not lethal but can lead to various hematopoietic defects and a predisposition to cancer. Here we summarize the current literature on inherited and acquired RUNX1 mutations, with a particular emphasis on mutations that alter the structure of the RUNX1 protein itself, and place these changes in the context of what is known about RUNX1 function. We also summarize which mutant RUNX1 proteins are actually expressed in cells and discuss the molecular mechanism underlying how such variants reprogram the epigenome setting stem cells on the path to malignancy.
Topics: Chromatin; Core Binding Factor Alpha 2 Subunit; Hematologic Diseases; Hematopoiesis; Humans; Mutation
PubMed: 35341804
DOI: 10.1016/j.exphem.2022.03.009 -
Blood Reviews Jan 2017Although first identified in placenta, the angiogenic factor known as placental growth factor (PlGF) can be widely expressed in ischemic or damaged tissues. Recent... (Review)
Review
Although first identified in placenta, the angiogenic factor known as placental growth factor (PlGF) can be widely expressed in ischemic or damaged tissues. Recent studies have indicated that PlGF is a relevant factor in the pathobiology of blood diseases including hemoglobinopathies and hematologic malignancies. Therapies for such blood diseases may one day be based upon these and ongoing investigations into the role of PlGF in sickle cell disease, acute and chronic leukemias, and complications related to hematopoietic cell transplantation. In this review, we summarize recent studies regarding the potential role of PlGF in blood disorders and suggest avenues for future research.
Topics: Animals; Biomarkers; Gene Expression Regulation; Hematologic Diseases; Hematologic Neoplasms; Hematopoietic Stem Cell Transplantation; Humans; Placenta Growth Factor; Protein Binding; Signal Transduction; Transplantation, Homologous
PubMed: 27608972
DOI: 10.1016/j.blre.2016.08.004