995 results match your criteria: "Macrocytosis"

A novel nonsense RPS26 mutation in a patient with Diamond-Blackfan anemia: a case report.

J Med Case Rep

November 2024

Department of Medical Genetics, Adana Faculty of Medicine, Adana City Education and Research Hospital, University of Health Sciences, Adana, Turkey.

Article Synopsis
  • Diamond-Blackfan anemia is a rare genetic disorder linked to mutations in ribosomal protein genes, and this report introduces a new variant in the RPS26 gene that hasn't been previously documented.
  • A 16-month-old Turkish girl was diagnosed with the condition, showing symptoms like pallor and macrocytosis, with genetic testing revealing the novel c.221G>T (p.C74F) mutation in the RPS26 gene.
  • This discovery highlights the complexity of Diamond-Blackfan anemia's genetic diversity and emphasizes the importance of genetic testing for accurate diagnosis and potential future treatments.
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This is a case of probable pernicious anemia in the setting of autoimmune hepatitis. A 55-year-old male patient presented to the Emergency Room at Dr. Ruth K.

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Changes in Erythrocytes in 88 Hyperthyroid Cats.

Animals (Basel)

October 2024

Division of Parasitology and Parasitic Diseases, Department of Preclinical Sciences, Institute of Veterinary Medicine, Warsaw University of Life Sciences-SGGW, Ciszewskiego 8, 02-786 Warsaw, Poland.

Background: There is only a limited number of studies that show alterations in erythrocytes in feline hyperthyroidism. Discrepancies between the findings of these studies may be caused by the presence of concurrent diseases and the use of various haematological analysers.

Methods: This study analysed changes in red blood cells (RBCs) in 88 hyperthyroid cats without concurrent diseases, to identify associations between observed changes and to assess the influence of serum thyroxine (T4) concentration, cat age, and sex, on RBC changes.

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Introduction: Cyclin Dependent Kinase (CDK) 4-6 inhibitors are the recommended first-line treatment option for hormone-positive metastatic breast cancer (MBC). They show their effects by causing cell cycle arrest in G1-S phase. Neutropenia is the most common haematological side effect.

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Disseminated histoplasmosis is rarely reported in patients living with cancers in Nigeria. We report a 40-year-old woman who presented with left neck swelling and abdominal pain of two weeks duration. Clinical examination and radiological findings showed pallor, epigastric tenderness, generalized lymphadenopathy and hepatosplenomegaly.

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Inherited thrombocytopenias have been considered exceedingly rare for a long time, but recent advances have facilitated diagnosis and greatly enabled the discovery of new causative genes. -related disease (RD) represents one of the most frequent forms of inherited thrombocytopenia, usually presenting with nonspecific clinical manifestations, which renders it difficult to establish an accurate diagnosis. RD is an autosomal dominant-inherited thrombocytopenia caused by deleterious variants in the gene encoding the heavy chain of nonmuscle myosin IIA.

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A case of VEXAS with microcytic anemia: don't be mislead by an associated condition!

Acta Clin Belg

September 2024

Department of Internal Medicine, Hôpitaux Universitaires de Bruxelles, Hôpital Erasme, Université Libre de Bruxelles, Brussels, Belgium.

Background: VEXAS syndrome encompasses a wide range of rheumatological and hematological manifestations, which often features myelodysplastic syndrome accompanied by either macrocytic anemia or macrocytosis.

Case Report: A 61-year-old Sicilian male was referred for a microcytic anemia associated with skin lesions, recurrent fever, involuntary weight loss, recurrent superficial venous thrombosis, migratory polyarthritis and a lung nodule. A hemoglobin electrophoresis uncovered a minor beta-thalassemia contributing to the anemia in addition to the chronic inflammation and vitamin B9/B12 deficiencies.

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Background: Pancytopenia is an important hematological problem encountered in routine clinical practice associated with a multitude of disease states. The possible causes of pancytopenia can be influenced by geography, socioeconomic conditions, and endemic illnesses. Information regarding the underlying clinical conditions and morphologic features of blood cells of pancytopenia is limited and varied across different regions.

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Chronic alcoholism is a well-documented cause of folate deficiency, with past studies revealing high prevalence rates among alcoholics. Despite mandatory folate fortification in the UK from 2021, individuals with chronic alcohol consumption remain susceptible to severe folate deficiencies. This case study explores the hematological impact of severe folate deficiency in a 38-year-old female chronic alcoholic who presented with pancytopenia.

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Objective: Anaemia is associated with an increased risk of disease progression and all-cause mortality among HIV-infected individuals, regardless of the type of anaemia, but the magnitude of the risk is greater with more severe forms of anaemia. Although anaemia PLWH has been extensively studied, the focus has primarily been on its prevalence and association with disease progression in untreated or poorly controlled HIV cases. This study aimed to investigate the prevalence, and factors associated with moderate-to-severe anaemia among virally suppressed HIV patients at a tertiary hospital in Zambia.

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Article Synopsis
  • Pancytopenia is a medical condition where there's a decrease in red blood cells, white blood cells, and platelets, causing various health issues and can stem from different causes, including reversible ones like infections and vitamin deficiencies.
  • A 39-year-old male presented with symptoms such as dizziness and body aches, and tests revealed that he had low blood cell counts and signs of anemia, raising concerns for possible blood disorders like leukemia or lymphoma.
  • Further testing ultimately revealed that the cause of his symptoms was severe vitamin B12 deficiency, rather than a hematologic malignancy.
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Article Synopsis
  • CDK4/6 inhibitors, like palbociclib, abemaciclib, and ribociclib, have revolutionized breast cancer treatment, but their varying side effects make it important to analyze their safety profiles.
  • A study using real-world data from the FDA Adverse Event Reporting System (2015-2022) examined adverse events (AEs) associated with these drugs, employing multiple disproportionality methods to identify safety signals.
  • Findings indicated that while all three inhibitors had common AEs, palbociclib showed higher risks for hematologic toxicities, ribociclib for macrocytosis and nail disorders, and abemaciclib for mucosal toxicity, highlighting the need for
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Down syndrome (DS), the genetic condition caused by trisomy 21 (T21), is characterized by delayed neurodevelopment, accelerated aging, and increased risk of many co-occurring conditions. Hypoxemia and dysregulated hematopoiesis have been documented in DS, but the underlying mechanisms and clinical consequences remain ill defined. We report an integrative multi-omic analysis of ∼400 research participants showing that people with DS display transcriptomic signatures indicative of elevated heme metabolism and increased hypoxic signaling across the lifespan, along with chronic overproduction of erythropoietin, elevated biomarkers of tissue-specific hypoxia, and hallmarks of stress erythropoiesis.

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Article Synopsis
  • Anemia is prevalent among people living with HIV (PWH), and categorizing it by mean corpuscular volume (MCV) can help identify its underlying causes while receiving antiretroviral therapy (ART).
  • In a study of nearly 15,000 anemic PWH, 74% had normocytic anemia, while smaller percentages had microcytic or macrocytic types, with distinctions based on sex.
  • The study found that older age and comorbidities increased the likelihood of developing macrocytic anemia; however, the overall rates of macrocytic anemia decreased over time as microcytic anemia rates increased among females.
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Article Synopsis
  • The study examines how starting hemodialysis (HD) affects blood health in patients with end-stage renal disease (ESRD), focusing on hematological and coagulation markers.
  • A total of 43 ESRD patients undergoing HD were analyzed from data collected at a hospital in Saudi Arabia, revealing significant changes in blood parameters like platelet count and volume metrics during treatment.
  • The findings suggest a potential risk of macrocytosis and thrombotic conditions in these patients, highlighting the need for careful monitoring of specific blood indicators during hemodialysis.
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Article Synopsis
  • Short telomeres, which can result from mutations in telomere maintenance genes, are linked to a condition called short telomere syndrome (STS), which includes hepatic issues like porto-sinusoidal vascular disorder (PSVD).
  • A study of 22 patients with histologically confirmed idiopathic PSVD found that 73% had short or very short telomeres, with significant associations to conditions like portal hypertension and chronic kidney disease.
  • The findings suggest a notable prevalence of short telomeres in PSVD patients, hinting that telomere biology might play a crucial role in liver vascular diseases, prompting clinicians to consider telomere measurement in these cases.
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Article Synopsis
  • A young African American female presented with symptoms of normocytic microangiopathic hemolytic anemia, elevated lactate dehydrogenase, and low platelet count, suggesting thrombotic thrombocytopenic purpura (TTP).
  • After initial treatment with therapeutic plasma exchanges (TPE), she relapsed and was diagnosed with pernicious anemia, characterized by low vitamin B12 and megaloblastic bone marrow.
  • Her condition improved after receiving intramuscular B12 and stopping TPE, highlighting the importance of recognizing vitamin B12 deficiency, which can mimic TTP symptoms.
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Prevalence and characteristics of anemia in patients with diabetes mellitus aged 50 or older in health unit area of Cadiz (Spain).

Rev Clin Esp (Barc)

August 2024

UGC Velada, la Línea de la Concepción, AGS Campo de Gibraltar Este, Cádiz, Spain; Instituto de Investigación e Innovación Biomédica de Cádiz (INiBICA), Cádiz, Spain.

Background: Anemia is a common comorbidity in patients with diabetes mellitus (DM), particularly in older adults. However, there is a lack of data on the prevalence and the characteristics of anemia in this population in Spain.

Objective: To describe the prevalence and the characteristics of anemia in patients with DM aged 50 or older (PDM50) in a healthcare district in the province of Cádiz.

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VEXAS syndrome.

Int J Hematol

May 2024

Department of Stem Cell and Immune Regulation, Yokohama City University Graduate School of Medicine, 3-9 Fuku-Ura, Kanazawa-Ku, Yokohama, 236-0004, Japan.

Article Synopsis
  • VEXAS syndrome is a newly discovered autoinflammatory disease in adults caused by mutations in the UBA1 gene, leading to immune system activation and symptoms like fever and joint inflammation.
  • The syndrome is associated with blood disorders and specific blood cell changes, which can serve as indicators for diagnosing UBA1 mutations in symptomatic patients.
  • Treatment options are limited, but hematopoietic stem cell transplantation is the only potential cure, particularly for younger, healthier patients experiencing severe symptoms or complications.*
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Biermer's disease (BD) or pernicious anemia (PA) is an autoimmune atrophic gastritis characterized by the absence of intrinsic factor (IF) secretion, leading to malabsorption of vitamin B12 in the ileum. Its clinical manifestations are primarily hematological, with neuropsychiatric and cardiovascular manifestations being less common. We present the case of a patient with PA diagnosed based on neurological and cardiovascular complications.

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ACTN1-related thrombocytopenia is a rare disorder caused by heterozygous variants in the ACTN1 gene characterized by macrothrombocytopenia and mild bleeding tendency. We describe for the first time two patients affected with ACTN1-RT caused by a homozygous variant in ACTN1 (c.982G>A) with mild heart valve defects unexplained by any other genetic variants investigated by WES.

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