Transcription factor PU.1, as a core member of the ETS family, plays a pivotal role in the multi-lineage differentiation of hematopoietic stem cells, particularly in the regulation of erythroid differentiation. PU.1 orchestrates the process of hematopoietic stem cell differentiation towards erythroid cells by modulating the transcription of lineage-determining factors and interacting with other key transcription factors in a fine-tuned manner. PU.1 plays an irreplaceable role in the development and function of red blood cells, with its abnormal expression closely related to the occurrence and progression of various blood diseases, including leukemia, myelodysplastic syndromes, and various types of anemia. This article comprehensively analyzes the functional roles and molecular mechanisms of PU.1 in various stages of erythroid differentiation, as well as its potential roles in related blood diseases. This review not only deepens our understanding of the mechanism by which PU.1 regulates erythroid differentiation, but also provides theoretical grounds for blood disease therapies based on PU.1.
Humans ; Proto-Oncogene Proteins/genetics* ; Trans-Activators/genetics* ; Cell Differentiation/physiology* ; Hematologic Diseases/physiopathology* ; Erythroid Cells/cytology* ; Animals ; Erythropoiesis/physiology*

Kabuki syndrome is characterized by long palpebral fissures, large ears, a depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation. There have been few prior detailed descriptions of strabismus or stereopsis in these patients. We report a patient with Kabuki syndrome who showed small-angle strabismus and poor stereopsis. This case illustrates the need for patients with a diagnosis of Kabuki syndrome to have an ophthalmologic evaluation. Strabismus associated with Kabuki syndrome may have a small angle that can be easily overlooked.
Abnormalities, Multiple/physiopathology ; Child ; Face/abnormalities/physiopathology ; Female ; Hematologic Diseases/complications/physiopathology ; Humans ; Strabismus/*etiology/physiopathology ; Vestibular Diseases/complications/physiopathology ; *Vision, Binocular ; *Visual Acuity

This article summarizes the progress of hematology in the recent tens years to show that experimental hematology used to pick up the 'hints' from clinical problems as the renewal of research directions and targets in experimental studies continuously. As the feedback, the results from lab investigations inserted into clinical practice and eventually made a quick modernization of hematology, which was actually a good model for the "translational research". The past few decades have witnessed tremendous advances in our understanding of normal hematopoiesis where genes dictate, epigenetics regulate, transcription factors mediate, and stem cells self-renew and differentiate. Dissection of disease pathogenesis not only elucidates molecular basis of disorders including hemoglobinopathy, aplastic anemia, hemophilia, hematopoietic malignancies such as leukemia and myeloproliferative disorders, but also provides therapeutic targets for drug development. Introduction of targeted therapies and combinatory targeting therapies greatly benefits hundreds of thousands of patients, and even turns acute promyelocytic leukemia from highly fatal to highly curable. In the 21st century the experimental hematology is entering the era of genomics and system biomedicine, and the pace of progress extrapolates to a prediction of hematologic neoplasms control in this century.
Animals ; Clinical Laboratory Techniques ; trends ; Hematologic Diseases ; genetics ; metabolism ; physiopathology ; Hematologic Neoplasms ; genetics ; metabolism ; physiopathology ; Hematology ; trends ; Humans

OBJECTIVES: Although risk factors for coronary artery disease are also associated with increased carotid intima-media thickness (IMT), there is little information available on the asymptomatic, young adult population. We examined the association between multiple cardiovascular risk factors and the common carotid IMT in 280 young Korean adults. METHODS: The data used for this study was obtained from 280 subjects (130 men and 150 women) aged 25 years who participated in the Kangwha Study follow-up examination in 2005. We measured cardiovascular risk factors, including anthropometrics, blood pressure, blood chemistry, carotid ultrasonography, and reviewed questionnaires on health behaviors. Risk factors were defined as values above the sex-specific 75th percentile of systolic blood pressure, body mass index, total cholesterol/high-density lipoprotein cholesterol ratio, fasting blood glucose and smoking status. RESULTS: The mean carotid IMT+/-standard deviation observed was 0.683+/-0.079 mm in men and 0.678+/-0.067 mm in women (p=0.567) and the evidence of plaque was not observed in any individuals. Mean carotid IMT increased with an increasing number of risk factors(p for trend <0.001) and carotid IMT values were 0.665 mm, 0.674 mm, 0.686 mm, 0.702 mm, and 0.748 mm for 0, 1, 2, 3, and 4 to 5 risk factors, respectively. The odds ratio for having the top quartile carotid IMT in men with 3 or more risk factors versus 0-2 risk factors was 5.09 (95% CI, 2.05-12.64). CONCLUSIONS: Current findings indicate the need for prevention and control of cardiovascular risk factors in young adults and more focus on those with multiple cardiovascular risk factors.
Adult ; Blood Pressure ; Body Weights and Measures ; Cardiovascular Diseases/*epidemiology ; Carotid Arteries/*physiopathology/ultrasonography ; Female ; Health Behavior ; Hematologic Tests ; Humans ; Korea/epidemiology ; Male ; Risk Factors ; Tunica Intima/*physiopathology

Severe acute respiratory syndrome (SARS) has recently recognized as a new human infectious disease. A novel coronavirus was identified as the causative agent of SARS. This report summarizes the hematological findings in SARS patients and proposes a hypothesis for the pathophysiology of SARS coronavirus related abnormal hematopoiesis. Hematological changes in patients with SARS were common and included lymphopenia (68% - 90% of adults; 100% of children, n = 10), thrombocytopenia (20% - 45% of adults, 50% of children), and leukopenia (20% - 34% of adults, 70% of children). The possible mechanisms of this coronavirus on blood system may include (1) directly infect blood cells and bone marrow stromal cells via CD13 or CD66a; and/or (2) induce auto-antibodies and immune complexes to damage these cells. In addition, lung damage in SARS patients may also play a role on inducing thrombocytopenia by (1) increasing the consumption of platelets/megakaryocytes; and/or (2) reducing the production of platelets in the lungs. Since the most common hematological changes in SARS patients were lymphopenia and immunodeficiency. We postulate that hematopoietic growth factors such as G-CSF, by mobilizing endogenous blood stem cells and endogenous cytokines, could become a hematological treatment for SARS patients, which may enhance the immune system against these virus.
Adult ; Antigens, CD ; immunology ; Antigens, Differentiation ; immunology ; CD13 Antigens ; immunology ; Cell Adhesion Molecules ; Child ; Hematologic Diseases ; immunology ; physiopathology ; Hematopoiesis ; physiology ; Humans ; SARS Virus ; Severe Acute Respiratory Syndrome ; immunology ; physiopathology ; virology