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Rhode Island Medical Journal (2013) Jul 2024Acute Myeloid Leukemia (AML) is a life-threatening illness that requires prompt diagnosis and often immediate treatment. It can present in a variety of manners but most...
Acute Myeloid Leukemia (AML) is a life-threatening illness that requires prompt diagnosis and often immediate treatment. It can present in a variety of manners but most commonly is associated with fevers, fatigue, shortness of breath, or infection. Extramedullary leukemia is a less common finding upon initial presentation, but includes dermatologic manifestations, including leukemia cutis, and rarely, large mass-like presentations known as myeloid sarcomas. While leukemic infiltration of organ systems is a well-described phenomenon, cardiac tamponade is a rare form of presentation. Herein we describe a 58-year-old man with a recent hospitalization for idiopathic cardiac tamponade who re-presented to the hospital with worsening dyspnea and fevers. He was found to have a recurrent pericardial effusion with features concerning for tamponade, as well as worsening thrombocytopenia and macrocytic anemia. Bone marrow biopsy revealed 24% myeloblasts, confirming the diagnosis of AML. Notably, his cardiac symptoms improved with treatment of his leukemia. To our knowledge, this is one of only a few cases of AML with cardiac tamponade as the initial presentation.
Topics: Humans; Cardiac Tamponade; Male; Middle Aged; Leukemia, Myeloid, Acute; Pericardial Effusion
PubMed: 38917306
DOI: No ID Found -
Cureus May 2024Vitamin B12 deficiency is a common condition that is often asymptomatic, though in severe cases may cause megaloblastic anemia and even neurologic symptoms....
Vitamin B12 deficiency is a common condition that is often asymptomatic, though in severe cases may cause megaloblastic anemia and even neurologic symptoms. Occasionally, the clinical presentation can include pancytopenia and thus mimic a more concerning myelodysplastic syndrome (MDS) until corrected by B12 supplementation. In this unusual case, we present a patient with B12 deficiency who presents with severe macrocytic anemia, neutropenia, lymphocytosis, and a bone marrow morphology consistent with MDS.
PubMed: 38910768
DOI: 10.7759/cureus.60837 -
Langenbeck's Archives of Surgery Jun 2024SASI (single anastomosis sleeve ileal) bypass can lead to nutritional deficiencies, including disorders of iron metabolism and anemia. This study aims to evaluate the...
PURPOSE
SASI (single anastomosis sleeve ileal) bypass can lead to nutritional deficiencies, including disorders of iron metabolism and anemia. This study aims to evaluate the effect of SASI bypass on weight loss, anemia, and iron deficiency in patients with obesity during the follow-up period.
METHODS
This study is a retrospective analysis of prospectively collected data from patients who underwent SASI bypass at our hospital between January 2020 and February 2022.
RESULTS
The mean age of the patients was 42 years (range 22-58). The average duration of the follow-up period was 26 months. The mean percentage of excess weight loss (%EWL) was 90.1%, and total weight loss (%TWL) was 30.5%. During the postoperative observation period, anemia was identified in ten patients (25%), comprising 70% with normocytic anemia, 10% with microcytic anemia, and two macrocytic anemia cases (20%). Iron deficiency was observed in two patients (5%).
CONCLUSION
SASI bypass is an effective bariatric procedure in weight loss outcomes. However, there may be an increased risk of anemia and iron metabolism disruptions associated with this procedure. The common limb length (250 vs. 300 cm) did not significantly impact hemoglobin, iron, TIBC, ferritin levels, or anemia incidence among patients undergoing SASI bypass. The decrease in postoperative ferritin levels signifies a depletion in tissue iron reserves, thereby emphasizing the necessity for surveillance of iron homeostasis parameters following SASI bypass.
Topics: Humans; Adult; Female; Male; Middle Aged; Retrospective Studies; Ileum; Weight Loss; Postoperative Complications; Obesity, Morbid; Anemia; Anastomosis, Surgical; Bariatric Surgery; Young Adult; Anemia, Iron-Deficiency; Iron
PubMed: 38904793
DOI: 10.1007/s00423-024-03384-y -
Endocrinology Jun 2024Thyroid hormone (TH) effects are mediated through TH receptors (TRs) TRα1, TRβ1, and TRβ2. The TRs bind to the DNA and regulate expression of TH target genes...
Thyroid hormone (TH) effects are mediated through TH receptors (TRs) TRα1, TRβ1, and TRβ2. The TRs bind to the DNA and regulate expression of TH target genes (canonical signaling). In addition, they mediate activation of signaling pathways (noncanonical signaling). Whether noncanonical TR action contributes to the spectrum of TH effects is largely unknown. Aim of this study was to attribute physiological effects to the TR isoforms and their canonical and noncanonical signaling. We conducted multi-parameter phenotyping in male and female TR knockout mice (TRαKO, TRβKO), mice with disrupted canonical signaling due to mutations in the TR DNA-binding domain (TRαGS, TRβGS) and their wild-type littermates. Perturbations in senses, especially hearing (mainly TRβ with a lesser impact of TRα), visual acuity, retinal thickness (TRα and TRβ) and in muscle metabolism (TRα) highlighted the role of canonical TR action. Strikingly, selective abrogation of canonical TR action often had little phenotypic consequence, suggesting that noncanonical TR action sufficed to maintain the wild-type phenotype for specific effects. For instance, macrocytic anemia, reduced retinal vascularization or increased anxiety related behavior were only observed in TRαKO, but not TRαGS mice. Noncanonical TRα action improved energy utilization and prevented hyperphagia observed in female TRαKO mice. In summary, by examining the phenotypes of TRα and TRβ knockout models alongside their DNA-binding-deficient mutants and wild-type counterparts, we could establish that the noncanonical actions of TRα and TRβ play a crucial role in modulating sensory, behavioral, and metabolic functions and, thus, contribute to the spectrum of physiological TH effects.
PubMed: 38889231
DOI: 10.1210/endocr/bqae067 -
The Journal of Infectious Diseases Jun 2024By acting as an environmental sensor, the ligand-induced transcription factor aryl hydrocarbon receptor (AhR) regulates acute innate and adaptive immune responses...
BACKGROUND
By acting as an environmental sensor, the ligand-induced transcription factor aryl hydrocarbon receptor (AhR) regulates acute innate and adaptive immune responses against pathogens. Here, we analyzed the function of AhR in a model for chronic systemic infection with attenuated Salmonella Typhimurium (STM).
METHODS
WT and AhR-deficient mice were infected with the attenuated STM strain TAS2010 and analyzed for bacterial burden, host defense functions and inflammatory stress erythropoiesis.
RESULTS
AhR-deficient mice were highly susceptible to TAS2010 infection compared with WT mice demonstrated by reduced bacterial clearance and increased mortality. STM infection resulted in macrocytic anemia and enhanced splenomegaly along with destruction of the splenic architecture in AhR-deficient mice. In addition, AhR-deficient mice displayed a major expansion of splenic immature red blood cells, indicative of infection-induced stress erythropoiesis. Elevated serum levels of erythropoietin and interleukin-6 upon infection as well as increased numbers of splenic stress erythroid progenitors already in steady state probably drive this effect and might cause the alterations in splenic immune cell compartments, thereby preventing an effective host defense against STM in AhR-deficient mice.
CONCLUSIONS
AhR-deficient mice fail to clear chronic TAS2010 infection due to enhanced stress erythropoiesis in the spleen and accompanying destruction of the splenic architecture.
PubMed: 38842164
DOI: 10.1093/infdis/jiae304 -
Clinical Pediatrics Jun 2024
PubMed: 38840508
DOI: 10.1177/00099228241257097 -
Clinica Chimica Acta; International... Jun 2024Iron studies are critical for diagnosing iron deficiency and hemochromatosis. We present a case exhibiting macrocytic anemia with perplexingly high plasma iron...
BACKGROUND
Iron studies are critical for diagnosing iron deficiency and hemochromatosis. We present a case exhibiting macrocytic anemia with perplexingly high plasma iron concentrations.
METHODS AND RESULTS
The initial clinical presentation with significantly elevated iron results raised concerns for hemochromatosis. However, inconsistent results in dilution studies suggested the presence of an interfering substance. Inspection of the reaction curves from the instrument revealed very high background absorption in the 800 nm channel. This, coupled with the observation of an insoluble precipitate upon mixing the acid buffer reagent with the patient's serum, as well as the patient's high total protein and low albumin levels, suggested immunoglobulin overproduction. Serum protein electrophoresis confirmed a monoclonal gammopathy with a subsequent diagnosis of multiple myeloma.
CONCLUSION
Excessive monoclonal immunoglobulins can precipitate in acidic buffers and interfere with spectrophotometric measurements in iron testing. Although challenging, investigating an interference and determining its cause can uncover underlying diseases that have yet to be diagnosed.
Topics: Humans; Multiple Myeloma; Iron; Male
PubMed: 38825058
DOI: 10.1016/j.cca.2024.119756 -
International Journal of Hematology May 2024VEXAS syndrome is a recently identified, adult-onset autoinflammatory disease caused by somatic mutations in UBA1. UBA1 is an X-linked gene encoding E1 ubiquitin... (Review)
Review
VEXAS syndrome is a recently identified, adult-onset autoinflammatory disease caused by somatic mutations in UBA1. UBA1 is an X-linked gene encoding E1 ubiquitin activating enzyme and its mutation in hematopoietic stem and progenitor cells leads to their clonal expansion and myeloid-skewed differentiation. UBA1 mutations in VEXAS are clustered at the second methionine (p.Met41), eliminating UBA1b isoform translated from p.Met41. Loss of UBA1b impairs ubiquitination and activates innate immune pathways, leading to systemic autoinflammation manifested as recurrent fever, chondritis, pulmonary involvement, vasculitis, or neutrophilic dermatitis. VEXAS syndrome is frequently associated with hematological disorders such as myelodysplastic syndrome (MDS), plasma cell dyscrasia and venous thromboembolism. Macrocytic anemia/macrocytosis and vacuoles in myeloid/erythroid precursors are prominent features of VEXAS syndrome, and their presence in patients with autoinflammatory symptoms prompts physicians to screen for UBA1 variant. Treatment of VEXAS syndrome is challenging and no consistently effective therapies have been established. Anti-inflammation therapies including glucocorticoids and anti-interleukin-6 have shown limited efficacy, while azacytidine and JAK inhibitors such as ruxolitinib were found to induce favorable, mid-term responses. Hematopoietic stem cell transplantation is the only curative option for VEXAS and should be considered for younger, fit patients with poor prognostic factors or recalcitrant symptoms.
PubMed: 38819628
DOI: 10.1007/s12185-024-03799-9 -
Frequency and Types of Anemia in Primary Hypothyroidism Patients: A Prospective Observational Study.Cureus Apr 2024Background Primary hypothyroidism is a common endocrine disorder resulting from inadequate production of thyroid hormones. Anemia is a common condition that can occur in...
Background Primary hypothyroidism is a common endocrine disorder resulting from inadequate production of thyroid hormones. Anemia is a common condition that can occur in hypothyroidism. Anemia may occur due to nutrient deficiency, such as iron or vitamin B12 deficiency due to chronic disease in hypothyroidism. Therefore, it is important to evaluate the cause of anemia in hypothyroidism. Objective The aim of this study was to determine the frequency of anemia and its types in patients with primary hypothyroidism. Methods This was a prospective cross-sectional observational study conducted at the Department of Medicine, Jinnah Postgraduate Medical Center, Karachi, Pakistan, using non-probability consecutive sampling. A total of 176 adults aged 18-65 years of either gender, newly diagnosed with primary hypothyroidism, or with any of its symptoms were included in the study. Patients already on anti-thyroid medication and with post-thyroidectomy hypothyroidism were excluded from the study. The duration of the study was 1.5 years, from January 2020 to July 2021. After ethical approval, written informed consent was obtained from each patient. Demographical data along with results of complete blood picture, including Hb and MCV for diagnosing anemia and its types were recorded on a pre-designed proforma. The chi-square test was applied keeping p < 0.05 as statistically significant. Results The mean age of the patients was 42.19 ± 8.43 years, with 59.66% (n = 105) females and 40.34% (n = 71) males. A total of 67% (n =118) patients were found to be anemic. Of these, 38.64% (n = 68) patients had normocytic anemia, 19.32% (n = 34) microcytic anemia, and 9.25% (n = 16) patients had macrocytic anemia; 56.34% (n = 40) males and 74.29% (n = 78) females were reported to be anemic (p = 0.01). Conclusion In our study, the frequency of anemia in patients with hypothyroidism was high, with normocytic anemia being the most common type. It is important to know the type of anemia in hypothyroidism, as normocytic anemia is due to the chronic disease process (anemia of chronic disease) and may not respond to nutrient supplementation. Conversely, microcytic anemia is commonly due to iron deficiency and macrocytic anemia is due to vitamin B12 deficiency and therefore, they require replacement therapy. In any case, it is important to identify and treat the underlying cause of anemia.
PubMed: 38817512
DOI: 10.7759/cureus.59350 -
Medical Ultrasonography May 2024VEXAS syndrome is a recently described condition characterized by systemic inflammation, predisposition to hematologic malignancy and a high rate of venous thrombosis....
VEXAS syndrome is a recently described condition characterized by systemic inflammation, predisposition to hematologic malignancy and a high rate of venous thrombosis. Here we report the case of an elderly male with erythema nodosumlike lesions, ankle arthralgia, and general symptoms. B-mode and Doppler ultrasound of the subcutis diagnosed superficial thrombophlebitis of the lower limbs, which turned out to be the manifestation of a paucisymptomatic VEXAS syndrome. VEXAS should be considered in any patient who presents with unexplained superficial thrombophlebitis, macrocytic anemia and unexplained systemic inflammation.
PubMed: 38805617
DOI: 10.11152/mu-4384