Aplastic Anemia

Gupta, Sahil

doi:10.1016/b978-0-12-386456-7.07901-6

Cited by 4 publications

(4 citation statements)

References 85 publications

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“…FANCA and FANCG interact with FANCB, FANCC, FANCE, FANCF, FANCL, and FANCM to form the FA complex. The FA complex monoubiquitinates FANCD2 and FANCI proteins, which, in turn, colocalize with BRCA1, BRCA2, and RAD51 at the sites of damage [ 80 ]. It has been seen that FANCA acts like RAD52, regulating strand alignment and exchange during DSB repair by HRR; such activity is stimulated by interaction with FANCG [ 81 ].…”

Section: Discussionmentioning

confidence: 99%

miR-27b-3p a Negative Regulator of DSB-DNA Repair

Peraza-Vega

Valverde

Rojas

2021

Genes

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Understanding the regulation of DNA repair mechanisms is of utmost importance to identify altered cellular processes that lead to diseases such as cancer through genomic instability. In this sense, miRNAs have shown a crucial role. Specifically, miR-27b-3 biogenesis has been shown to be induced in response to DNA damage, suggesting that this microRNA has a role in DNA repair. In this work, we show that the overexpression of miR-27b-3p reduces the ability of cells to repair DNA lesions, mainly double-stranded breaks (DSB), and causes the deregulation of genes involved in homologous recombination repair (HRR), base excision repair (BER), and the cell cycle. DNA damage was induced in BALB/c-3T3 cells, which overexpress miR-27b-3p, using xenobiotic agents with specific mechanisms of action that challenge different repair mechanisms to determine their reparative capacity. In addition, we evaluated the expression of 84 DNA damage signaling and repair genes and performed pathway enrichment analysis to identify altered cellular processes. Taken together, our results indicate that miR-27b-3p acts as a negative regulator of DNA repair when overexpressed.

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Section: Discussionmentioning

confidence: 99%

miR-27b-3p a Negative Regulator of DSB-DNA Repair

Peraza-Vega

Valverde

Rojas

2021

Genes

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“…Although the definitive mechanism has not been identified, some genetic factors are the targets of ongoing research, such as the molecular basis of the aberrant immune response and hematopoietic cell deficiency, telomere repair gene mutations in the target cells and unregulated T cell activation pathways and cytokine genes polymorphisms [9,26,28]. These changes in the nucleotide sequence and gene regulation are associated with an increased immune response and suggest a genetic basis for aberrant T cells activation in BM failure [35].…”

Section: Aa Pathophysiologymentioning

confidence: 99%

Alternative Immune-Mediated-Based Methods in the Aplastic Anemia Treatment

Gonzaga¹,

Policiquio²,

Wenceslau³

et al. 2021

Human Blood Group Systems and Haemoglobinopathies

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Acquired aplastic anemia (AA) is characterized by partial or total bone marrow (BM) destruction resulting in pancytopenia. Most of the acquired AA is the result of autoimmune condition the imbalance between T-regulatory cells (Treg), abnormal cytokines production and cytotoxic T cells activation, leading to the hematopoietic stem cells (HSCs) death. The first-line treatment is given by HSC transplant, but some patients did not respond to the treatment. Therefore, new technologies need to treat AA nonresponder patients. Studies are in progress to test the efficacy of stem cell-based therapeutic as mesenchymal stem cells (MSCs), which confer low immunogenicity and are reliable allogeneic transplants in refractory severe AA cases. Furthermore, MSCs comprise the BM stromal niche and have an important role in supporting hematopoiesis by secreting regulatory cytokines, providing stimulus to natural BM microenvironment. In addition, MSCs have immunomodulatory property and are candidates for efficient supporting AA therapy.

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“…Yet, most patients find it challenging to go for this intensive treatment, as it carries the risk of fatality for some individuals midway through the Aplastic anemia (AA), on the other hand, presents a distinct hematological challenge, marked by the failure of bone marrow to produce sufficient blood cells, resulting in pancytopenia. Unlike myeloproliferative disorders, AA can be congenital or acquired, with various causative factors such as chemotherapy, radiation, drugs, viral infections, and autoimmune disorders [7,8]. Clinically, AA presents with a range of symptoms, including fatigue, weakness, headaches due to anemia, petechiae, nosebleeds, gum bleeding resulting from severe thrombocytopenia, and susceptibility to infections due to low WBC counts and neutropenia [7].…”

Section: Introductionmentioning

confidence: 99%

Aplastic Anemia Mimicking Myelofibrosis: A Diagnostic Dilemma

Patel,

Mirza,

Bai

et al. 2023

Cureus

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Hematological disorders pose a diagnostic challenge due to overlapping clinical features, as demonstrated by the difficulty in differentiating between aplastic anemia (AA) and primary myelofibrosis (PM). Myeloproliferative disorders, characterized by aberrant proliferation of bone marrow stem cells, present complexities in diagnosis, often requiring a comprehensive evaluation to distinguish between disorders with similar manifestations. The distinctions between myelofibrosis and AA lie not only in clinical presentations but also in genetic and molecular markers, necessitating a nuanced diagnostic approach. We present a case of a 37-year-old male initially diagnosed with myelofibrosis based on a history of pancytopenia, warm submandibular and submental swelling, and negative BCR-ABL and JAK2 mutations. Further examination revealed empty fragmented cells, hypoplastic bone marrow, and suppressed erythropoiesis and myelopoiesis. Subsequent core biopsy showed increased megakaryocytes, prompting a revised diagnosis of AA. This case underscores the importance of a meticulous diagnostic journey, incorporating physical examination, genetic testing, and advanced imaging to unravel the complexities of hematological disorders. The intricacies of this case prompt a reevaluation of diagnostic paradigms, highlighting the limitations of relying solely on specific mutations for diagnosis. The absence of BCR-ABL and JAK2 mutations in AA raises questions about its genetic landscape, necessitating further exploration. Immunological considerations, given the immune-mediated nature of AA, provide a foundation for future research into immune dysregulation and potential therapeutic interventions. The clinical management challenges posed by AA underscore the need for personalized treatment strategies, guided by a deeper understanding of its underlying pathophysiology. Advanced imaging techniques, in conjunction with traditional diagnostic methods, emerge as crucial tools for enhancing diagnostic accuracy in hematological disorders. This case serves as a paradigm for ongoing medical education, multidisciplinary collaboration, and innovative approaches in the evolving landscape of hematology, emphasizing the imperative for continuous refinement in diagnostic strategies and patient care.

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Aplastic Anemia

Cited by 4 publications

References 85 publications

miR-27b-3p a Negative Regulator of DSB-DNA Repair

miR-27b-3p a Negative Regulator of DSB-DNA Repair

Alternative Immune-Mediated-Based Methods in the Aplastic Anemia Treatment

Aplastic Anemia Mimicking Myelofibrosis: A Diagnostic Dilemma

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