• Molecules and Cells
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• v.43 no.2
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• pp.139-144
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• 2020

Somatic RUNX1 mutations are found in approximately 10% of patients with de novo acute myeloid leukemia (AML), but are more common in secondary forms of myelodysplastic syndrome (MDS) or AML. Particularly, this applies to MDS/AML developing from certain types of leukemia-prone inherited bone marrow failure syndromes. How these RUNX1 mutations contribute to the pathobiology of secondary MDS/AML is still unknown. This mini-review focusses on the role of RUNX1 mutations as the most common secondary leukemogenic hit in MDS/AML evolving from severe congenital neutropenia (SCN).

• Clinical and Experimental Pediatrics
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• v.50 no.6
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• pp.519-523
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• 2007

Aplastic anemia is a rare disease, which is characterized by pancytopenia and hypocellular bone marrow without infiltration of abnormal cells or fibrosis. The incidence in Asia is higher than in the West and new cases are diagnosed at a rate of 5.1 per million pediatric populations per year in Korea. The pathophysiology is understood roughly by defective hematopoiesis, impaired bone marrow micro-environment and immune mechanism. Treatments are performed on basis of pathogenesis and selected depending on the severity. Immunosuppressive therapy with antilymphocyte or antithymocyte globulin and cyclosporine is effective in the majority of patients but has some problems including relapse or clonal evolution. Recently, there have been clinical trials of immunosuppression with hematopoietic growth factors or other drugs. Allogeneic hematopoietic stem cell transplantation (HSCT) is curative in children with severe aplastic anemia. The overall survival in HSCT from HLA-identical sibling is higher than alternative donor, including HLA matched unrelated donor or cord blood. We have to consider quality of life after HSCT because of high survival rate. However, chronic graft versus host disease and graft failure are important factors that affect the quality of life and overall survival. We need further investigation to make new regimens aimed at overcoming these risk factors and perform clinical trials.

• Clinical and Experimental Pediatrics
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• v.46 no.11
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• pp.1139-1142
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• 2003

Human parvovirus(HPV) B19 infection causes erythema infectiosum in children, sometimes red cell aplastic crisis with hemolytic anemia and chronic bone marrow failure in immunocompromised hosts. HPV B19 is directly cytotoxic for erythroid progenitor cells and inhibits erythropoiesis. Infrequently, HPV B19 inhibits hematopoiesis of three cell lineages and causes transient pancytopenia in patients with hemolytic disorders. We report three patients with hereditary spherocytosis who developed transient aplastic crisis. A HPV B19 infection was confirmed by IgM anti-B19 parvovirus titers and characteristic findings of bone marrow examination as the causative agent associated with severe pancytopenia. Three patients recovered spontaneously after a short period of supportive care with red cell transfusions and intravenous immunoglobulin.

• Clinical and Experimental Pediatrics
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• v.63 no.3
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• pp.79-87
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• 2020

Inherited platelet disorders (IPDs), which manifest as primary hemostasis defects, often underlie abnormal bleeding and a family history of thrombocytopenia, bone marrow failure, hematologic malignancies, undefined mucocutaneous bleeding disorder, or congenital bony defects. Wide heterogeneity in IPD types with regard to the presence or absence of thrombocytopenia, platelet dysfunction, bone marrow failure, and dysmegakaryopoiesis is observed in patients. The individual processes involved in platelet production and hemostasis are genetically controlled; to date, mutations of more than 50 genes involved in various platelet biogenesis steps have been implicated in IPDs. Representative IPDs resulting from defects in specific pathways, such as thrombopoietin/MPL signaling; transcriptional regulation; granule formation, trafficking, and secretion; proplatelet formation; cytoskeleton regulation; and transmembrane glycoprotein signaling are reviewed, and the underlying gene mutations are discussed based on the National Center for Biotechnology Information database and Online Mendelian Inheritance in Man accession number. Further, the status and prevalence of genetically confirmed IPDs in Korea are explored based on searches of the PubMed and KoreaMed databases. IPDs are congenital bleeding disorders that can be dangerous due to unexpected bleeding and require genetic counseling for family members and descendants. Therefore, the pediatrician should be suspicious and aware of IPDs and perform the appropriate tests if the patient has unexpected bleeding. However, all IPDs are extremely rare; thus, the domestic incidences of IPDs are unclear and their diagnosis is difficult. Diagnostic confirmation or differential diagnoses of IPDs are challenging, time-consuming, and expensive, and patients are frequently misdiagnosed. Comprehensive molecular characterization and classification of these disorders should enable accurate and precise diagnosis and facilitate improved patient management.

• Investigative Magnetic Resonance Imaging
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• v.22 no.1
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• pp.10-17
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• 2018

Purpose: To evaluate interpretation errors involving spine MRIs by residents in their second to fourth year of training, classified as minor, intermediate and major discrepancies, as well as the types of commonly discordant lesions with or without clinical significance. Materials and Methods: A staff radiologist evaluated both preliminary and final reports of 582 spine MRIs performed in the emergency room from March 2011 to February 2013, involving (1) the incidence of report discrepancy, classified as minor if there was sufficient description of the main MR findings without ancillary or incidental lesions not influencing the main diagnosis, treatment, or patients' clinical course; intermediate if the correct diagnosis was made with insufficient or inadequate explanation, potentially influencing treatment or clinical course; and major if the discrepancy affected the main diagnosis; and (2) the common causes of discrepancy. We analyzed the differences in the incidence of discrepancy with respect to the training years of residents, age and sex of patients. Results: Interpretation discrepancy occurred in 229 of the 582 cases (229/582, 39.3%), including 146 minor (146/582, 25.1%), 40 intermediate (40/582, 6.9%), and 43 major cases (43/582, 7.4%). The common causes of major discrepancy were: over-diagnosis of fracture (n = 10), missed cord lesion (n = 9), missed signal abnormalities associated with diffuse marrow (n = 5), and failure to provide differential diagnosis of focal abnormal marrow signal intensity (n = 5). No significant difference was found in the incidence of minor, intermediate, and major discrepancies according to the levels of residency, patients' age or sex. Conclusion: A 7.4% rate of major discrepancies was found in preliminary reporting of emergency MRIs of spine interpreted by radiology residents, probably related to a relative lack of clinical experience, indicating the need for additional training, especially involving spine trauma, spinal cord and bone marrow lesions.

• Archives of Plastic Surgery
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• v.35 no.3
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• pp.316-320
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• 2008

Purpose: Pachydermoperiostosis is a rare hereditary disease characterized by finger clubbing, periosteal reaction, and pachydermia. The underlying pathogenic mechanism of this disease remains unclear. This disease is known to be associated with a variety of diseases such as cranial suture defect, bone marrow failure, hypertrophic gastropathy, Crohn's disease, and female escuchen. Methods: A 50-year-old male had digital clubbing of both hands, coarse hypertrophic skin changes of face, progressive thickening and furrowing on the scalp(cutis verticis gyrata), persistent pain in the limbs and joints. Other cutaneous features include moderate blepharoptosis, pole-like lower legs and feet. Results: We performed surgical excision for hypertrophic skin change of scalp because of frequent eczematous skin change, severe itching sensation and cosmetic problem. Diagnosis is confirmed by bony proliferative periosteal reaction, pathologic findings, and characteristic clinical findings. Conclusion: Pachydermoperiostosis is manifested by finger clubbing, and hypertrophic skin changes causing coarse facial features with thickening and periosteal bone formation. We experienced a case of pachydermoperiostosis. Brief review of related literature is given.

• Natural Product Sciences
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• v.25 no.1
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• pp.59-63
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• 2019

Hematopoiesis has a pivotal role in the maintenance of body homeostasis. Ironically, several hematological disorder caused by chemicals, drugs, and other environmental factors lead to severe bone marrow failure. Current treatments like stem cell transplantation and immunosuppression remain ineffective to ameliorate this diseases. Therefore, a newtreatment to overcome this entity is necessary, one of them by promoting the usage of medicinal plants. Thus, this study aimed to evaluate the hematopoiesis potency of S. javanica berries and leaves extracts in chloramphenicol (CMP)-induced aplastic anemia mice model. In this present study, several types of blood progenitor cell such as $TER-119^+VLA-4^+$ erythrocytes lineage, $Gr-1^+$ granulocytes, and $B220^+$ B-cell progenitor cells were evaluated by flow cytometry analysis. Accordingly, we revealed that S. javanica berries and leaves extracts significantly promoted $TER-119^+VLA-4^+$ erythrocytes lineage and $Gr-1^+$ granulocytes after exposed by CMP. Thus, these results suggested that S. javanica berries and leaves extracts might have hematopoiesis activity in CMP-induced aplastic anemia mice model.

• Clinical and Experimental Reproductive Medicine
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• v.44 no.4
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• pp.187-192
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• 2017

Although the survival rate of hematologic malignancies in young patients is very high, cytotoxic therapies such as chemotherapy and total body irradiation therapy can significantly reduce a patient's reproductive capacity and cause irreversible infertility. Early ovarian failure also commonly occurs following additional cancer treatment, bone marrow transplantation, or autologous transplantation. Because the risk of early ovarian failure depends on the patient's circumstances, patients with a hematologic malignancy must consult health professionals regarding fertility preservation before undergoing treatments that can potentially damage their ovaries. While it is widely known that early menopause commonly occurs following breast cancer treatment, there is a lack of reliable study results regarding fertility preservation during hematologic malignancy treatment. Therefore, an in-depth discussion between patients and health professionals about the pros and cons of the various options for fertility preservation is necessary. In this study, we review germ cell toxicity, which occurs during the treatment of hematologic malignancies, and propose guidelines for fertility preservation in younger patients with hematologic malignancies.

• Journal of Periodontal and Implant Science
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• v.37 no.2
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• pp.237-249
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• 2007

This study was performed to evaluate the effect of membrane exposure on new bone formation when guided bone regeneration with perforated titanium membrane on atrophic alveolar ridge. The present study attempted to establish a GBR model for four adult beagle dog premolar. Intra-marrow penetration defects were created on the alveolar ridge(twelve weeks after extraction) on the mandibular premolar teeth in the beagle dogs. Space providing perforated titanium membrane with various graft material were implanted to provide for GBR. The graft material were demineralized bovine bone(DBB), Irradiated cancellous bone(ICB) and demineralized human bone powder(DFDB). The gingival flap were advanced to cover the membranes and sutured. Seven sites experienced wound failure within 2-3weeks postsurgery resulting in membrane exposure. The animals were euthanized at 4 weeks postsurgery for histologic and histometric analysis. The results of this study were as follows: 1. There was little new bone formation at 4 weeks postsurgery. irrespectively of membrane exposure. 2. There was significant relationship between membrane exposure and bone graft resorption(P<0.05), but no relation between membrane exposure and infiltrated connective tissue. 3. There was much bone graft resorption on DFDB than ICB and DBB. 4. The less exposure was on the perforated titanium membrane, the more dense infiltrated connective tissue was filled under the membrane when grafted with ICB and DBB. but there was no relationship between the rate of membrane exposure and the percentage of infiltrated connective tissue area and no relationship between the percentage of the area in the infiltrated connective tissue and in the residual bone graft. Within the above results, bone formation may be inhibited when membrane was exposed and ICB and DBB were more effective than DFDB as a bone graft material when guided bone regeneration.

• Childhood Kidney Diseases
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• v.12 no.2
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• pp.221-226
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• 2008

Paroxysmal nocturnal hemoglobinuria(PNH) is an acquired hematologic disorder characterized by intravascular hemolysis, nocturnal hemoglobinuria, thrombotic events and bone marrow failure. It rarely occurs in children and can be complicated by acute renal failure(ARF). Here, we present two cases of ARF complicating PNH which has not been reported yet in Korean children. We suggest that PNH should be considered in differential diagnosis of ARF in children associated with intravascular hemolysis.