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La Revue de Medecine Interne Jun 2024
PubMed: 38853049
DOI: 10.1016/j.revmed.2024.05.022 -
European Journal of Case Reports in... 2024Systemic lupus erythematosus (SLE) is a multisystem autoimmune disease, characterised by multi-organ affections. Haematological involvement is a common manifestation of...
BACKGROUND
Systemic lupus erythematosus (SLE) is a multisystem autoimmune disease, characterised by multi-organ affections. Haematological involvement is a common manifestation of SLE, consisting of autoimmune peripheral cytopenia. Autoimmune myelofibrosis (AIMF) is a rare cause of cytopenia in SLE; it could precede or be concurrent with the diagnosis of SLE. There are few studies that describe this association.
CASE DESCRIPTION
We report a case of AIMF revealing the diagnosis of SLE in 34-year-old female, presented with episodes of gingival bleeding associated with peripheral inflammatory polyarthralgia, photosensitivity and deterioration of general condition. Clinical examination revealed a soft pitting oedema in the lower limbs. Laboratory investigations showed a pancytopenia, inflammatory biological syndrome, with positive 24-hour proteinuria and anti-native DNA antibodies. A bone marrow biopsy showed diffuse myelofibrosis associated with maturation disorders and no tumour infiltrate. Renal biopsy revealed proliferative glomerulonephritis class III with immune deposits.
CONCLUSION
The association of AIMF with SLE has been rarely reported, and it could be another cause for cytopenia in SLE.
LEARNING POINTS
Autoimmune myelofibrosis can be associated with systemic lupus erythematosus (SLE), even though it is rare.This association should be considered when pancytopenia is not well controlled during SLE, prompting a bone marrow biopsy to confirm the diagnosis.The therapeutic management of this association is the same as that used in SLE.
PubMed: 38846662
DOI: 10.12890/2024_004511 -
International Journal of Surgery Case... Jul 2024Giant hepatic haemangioma (GHH) is defined as a hepatic haemangioma (HH) of >10 cm in diameter. Its association with thrombocytopenia and consumption coagulopathy is...
INTRODUCTION AND IMPORTANCE
Giant hepatic haemangioma (GHH) is defined as a hepatic haemangioma (HH) of >10 cm in diameter. Its association with thrombocytopenia and consumption coagulopathy is quite rare.
CASE PRESENTATION
Here, we present a case of a 39-year-old man with a rapidly enlarging 25-cm GHH arising from the entire left hemiliver. Laboratory findings suggested pancytopenia but normal liver and renal functions. He was diagnosed with Kasabach-Merritt syndrome (KMS). After three units of aphaeretic platelet transfusion, the patient underwent left hepatectomy. Postoperative recovery was uneventful, and his regular follow-up revealed no recurrence even after two years.
CLINICAL DISCUSSION
HH predominantly affects females, but males can also be affected, as seen in this case. With observation, it can grow over time, particularly in patients under 50 years of age. Surgical management should be considered when HH causes symptoms or is larger than 10 cm. The evolving understanding of GHH and the critical role of surgery are important, particularly when they complicate haematological or coagulation profiles and lead to thrombocytopenia.
CONCLUSION
Our case report highlights the significance of surgical intervention in GHH, and a disease-free outcome can be expected for patients with this condition in the future. To our knowledge, this is the first such case report from Bangladesh.
PubMed: 38843626
DOI: 10.1016/j.ijscr.2024.109795 -
Platelets Dec 2024The purpose of this study is to investigate the molecular interactions and potential therapeutic uses of Eltrombopag (EPAG), a small molecule that activates the cMPL...
The purpose of this study is to investigate the molecular interactions and potential therapeutic uses of Eltrombopag (EPAG), a small molecule that activates the cMPL receptor. EPAG has been found to be effective in increasing platelet levels and alleviating thrombocytopenia. We utilized computational techniques to predict and confirm the complex formed by the ligand (EPAG) and the Thrombopoietin receptor (TPO-R) cMPL, elucidating the role of RAS, JAK-2, STAT-3, and other essential elements for downstream signaling. Molecular dynamics (MD) simulations were employed to evaluate the stability of the ligand across specific proteins, showing favorable characteristics. For the first time, we examined the presence of TPO-R in human umbilical cord mesenchymal stem cells (hUCMSC) and human gingival mesenchymal stem cells (hGMSC) proliferation. Furthermore, treatment with EPAG demonstrated angiogenesis and vasculature formation of endothelial lineage derived from both MSCs. It also indicated the activation of critical factors such as RUNX-1, GFI-1b, VEGF-A, MYB, GOF-1, and FLI-1. Additional experiments confirmed that EPAG could be an ideal molecule for protecting against UVB radiation damage, as gene expression (JAK-2, ERK-2, MCL-1, NFkB, and STAT-3) and protein CD90/cMPL analysis showed TPO-R activation in both hUCMSC and hGMSC. Overall, EPAG exhibits significant potential in treating radiation damage and mitigating the side effects of radiotherapy, warranting further clinical exploration.
Topics: Humans; Pyrazoles; Benzoates; Receptors, Thrombopoietin; Hydrazones; Mesenchymal Stem Cells; Hydrazines; Molecular Dynamics Simulation; Angiogenesis
PubMed: 38832545
DOI: 10.1080/09537104.2024.2359028 -
Journal of the Association of Genetic... 2024The Fanconi anemia (FA) genes are a family of at least 23 known genes that are spread across many chromosomes and participate in interstrand crosslink (ICLs) DNA repair....
The Fanconi anemia (FA) genes are a family of at least 23 known genes that are spread across many chromosomes and participate in interstrand crosslink (ICLs) DNA repair. In this pathway, FA proteins are involved in sensing sites of ICLs, translocating repair enzymes from the cytoplasm to the nucleus, excising the area of damage, and facilitating repair of the fractured DNA. Mutations in these genes lead to Fanconi anemia, a syndrome characterized primarily by pancytopenia but with associated symptoms involving nearly every organ system; the majority of patients present with dermatological symptoms and growth deficits. Additionally, individuals with Fanconi anemia are known to be predisposed individuals to an increased risk of malignancies, particularly acute myeloid dystrophy and myelodysplastic syndrome, but also in the head, neck, esophagus, reproductive organs, brain, skin, liver, and kidneys. In fact, the cytogenetic aberrations seen in those with FA-associated AML differ from those in typical AML. In contrast, the cytogenetic changes seen in FA-associated MDS are similar to those in typical MDS.
PubMed: 38824651
DOI: No ID Found -
Cureus Apr 2024Cytomegalovirus (CMV) is a DNA virus that can cause widespread, severe infection in immunocompromised patients. While CMV usually leads to a subclinical infection in...
Cytomegalovirus (CMV) is a DNA virus that can cause widespread, severe infection in immunocompromised patients. While CMV usually leads to a subclinical infection in immunocompetent individuals, it can rarely cause severe disease in this population. The SARS-CoV-2 virus is an RNA virus and part of the family. SARS-CoV-2 led to the COVID-19 (coronavirus disease 2019) pandemic. Even though COVID-19 usually presents with signs and symptoms of upper respiratory tract infection in younger adults, viral pneumonia, cytopenia, and neurological symptoms become more apparent with increasing age. Herein, we describe an immunocompetent 73-year-old female patient in whom oxygen demand and pancytopenia developed during hospitalization for post-ablation inguinal access site infection. The thorax CT revealed viral pneumonia, but two subsequent SARS-CoV-2 polymerase chain reaction (PCR) tests and a viral respiratory multiplex PCR panel were negative. The CMV viral load was high in the blood sample, and the patient responded to valganciclovir treatment. Although SARS-CoV-2 should be evaluated in patients with viral pneumonia and cytopenia, other viral etiologies mimicking SARS-CoV-2 infection, such as CMV, should not be overlooked in the era of the COVID-19 pandemic.
PubMed: 38817494
DOI: 10.7759/cureus.59360 -
Cureus Apr 2024Gelatinous transformation of bone marrow (GTBM) is a rare hematologic condition in which hematopoietic cells in the bone marrow are replaced by extracellular gelatinous...
Gelatinous transformation of bone marrow (GTBM) is a rare hematologic condition in which hematopoietic cells in the bone marrow are replaced by extracellular gelatinous substances, often resulting in cytopenias. The true incidence of this condition is presently unknown, as the current body of literature primarily consists of case reports. However, an analysis of a large bone marrow registry suggests that this is a highly rare entity even among a population requiring bone marrow biopsy. We present a case of a 24-year-old man with a history of diffuse large B cell lymphoma and an associated 45-kilogram weight loss, who was later found to have GTBM. The extent of his cytopenias resulted in a prolonged hospitalization with numerous complications, eventually leading to experimental treatment with allogeneic stem cell transplantation (ASCT). To our knowledge, this is the first reported case of GTBM in which ASCT was employed as a potential treatment modality. While our patient did have clinical improvement following ASCT, the permanence of these results is presently unclear. Furthermore, it is uncertain if the ASCT was truly causative of the stabilization of the patient. Given this, we are currently unable to advocate for ASCT as a treatment for GTBM. We report this case to raise awareness of this rare entity in the context of refractory cytopenias.
PubMed: 38817486
DOI: 10.7759/cureus.59354 -
Future Science OA 2024Vitamin B12 deficiency is widely recognized as a common cause of anemia. However, symptoms such as dysphagia, melanoderma, and pancytopenia, although less frequent, can...
Vitamin B12 deficiency is widely recognized as a common cause of anemia. However, symptoms such as dysphagia, melanoderma, and pancytopenia, although less frequent, can also be associated with this deficiency. We report the case of a 47-year-old Caucasian man presented with dysphagia to solids associated to high heart rate, dyspnea and melanoderma. He was diagnosed with severe anemia (hemoglobin 4 g/dl) in association with pancytopenia. Further investigation confirmed that the underlying cause was severe vitamin B12 deficiency secondary to pernicious anemia. Subsequent treatment with vitamin B12 supplements led to a significant improvement in all symptoms. A review of the existing literature corroborated the rarity of severe anemia occurring in conjunction with dysphagia and melanoderma due to B12 deficiency.
PubMed: 38817371
DOI: 10.2144/fsoa-2023-0176 -
Transplantation Proceedings May 2024Familial hemophagocytic lymphohistiocytosis (FHL) is a rare inherited autosomal recessive immune deficiency that usually manifests during infancy or early childhood,...
Familial hemophagocytic lymphohistiocytosis (FHL) is a rare inherited autosomal recessive immune deficiency that usually manifests during infancy or early childhood, rarely occurring in adults. Hematopoietic stem cell transplantation (HSCT) is the only curative treatment for FHL. However, optimal conditioning regimens for adult-onset FHL have not yet been established. Herein, we report a case of adult-onset FHL. A 37-year-old man presented with fever, liver dysfunction, and pancytopenia, which improved temporarily with corticosteroid therapy. However, he later developed encephalitis and myelitis. Genetic analysis revealed rare variants of UNC13D (c.2367+1 g>a and c.2588 g>a), which were compound heterozygous pathogenic mutations. FHL type 3 was diagnosed, and treatment based on the hemophagocytic lymphohistiocytosis (HLH) 1994 protocol was initiated. The patient underwent cord blood transplantation (CBT) with myeloablative conditioning using fludarabine, melphalan, and total-body irradiation (TBI), which resulted in graft rejection. The patient was successfully rescued by a second CBT following reduced-intensity conditioning with fludarabine, cyclophosphamide, and TBI. Although graft failure is an important complication especially in CBT, it could be managed by appropriate treatment, and that cord blood would be a promising alternative source with the advantages of rapidity and avoidance of related donors with a high risk of harboring the same genetic mutation.
PubMed: 38811303
DOI: 10.1016/j.transproceed.2024.05.011 -
Cureus Apr 2024Dengue fever, an arboviral illness, exhibits a broad range of symptoms, ranging from flu-like symptoms to serious hemorrhagic complications. Hemophagocytic...
Dengue fever, an arboviral illness, exhibits a broad range of symptoms, ranging from flu-like symptoms to serious hemorrhagic complications. Hemophagocytic lymphohistiocytosis (HLH) is an uncommon pathological state caused by excessive activation of the immune system, culminating in organ dysfunction. HLH can be primary or secondary, with infection being the most common cause. The association between dengue fever and dengue-induced HLH is becoming widely acknowledged as a lethal complication. We present the case of a two-year-old male child referred for the management of dengue infection. The patient's condition failed to ameliorate despite appropriate treatment. On further investigation, he was diagnosed with HLH. Following the initiation of steroid therapy, the patient demonstrated gradual improvement with normalization of laboratory parameters. Differentiating between HLH and severe dengue hemorrhagic fever poses a significant challenge, emphasizing the importance of prompt diagnosis for favorable outcomes. Early identification and commencement of corticosteroid therapy are imperative for successful management.
PubMed: 38803771
DOI: 10.7759/cureus.59165