• Investigative Magnetic Resonance Imaging
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• v.23 no.1
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• pp.75-80
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• 2019

Metastasis of rhabdomysarcoma to the breast is a very rare manifestation in adult males. Herein, we report a case of metastasis from embryonal rhabdomyosarcoma in the left hypothenar muscle that presented as a breast mass in a 38-year-old man, who four months later expired because of multiple bone metastases related to pancytopenia. We describe the various imaging findings, including mammograms, ultrasonography, computerized tomography (CT), positron emission tomography-computed tomography (PET-CT), and magnetic resonance imaging (MRI) of this rare disease. The various imaging findings of this lesion could be helpful for future diagnosis of male breast lesions.

• 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.

• Journal of Yeungnam Medical Science
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• v.4 no.2
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• pp.165-172
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• 1987

The term histiocytic medullary reticulosis first was introduced by Scott and Robb-Smith. It is a clinicopathologic symdrome characterized by wasting, fever, lymphadenopathy, hepatosplenomegaly, pancytopenia, and is often accompanied by jaundice, purpura. Cardinal pathologic features are systemized proliferation of atypical, neoplastic, erytherophagocytic histiocyte. We are here reporting one case which considered compatible for HMR, with a few elementary reviewed literatures.

• Advances in pediatric surgery
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• v.10 no.1
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• pp.35-38
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• 2004

Visceral leishmaniasis is a life-threatening systemic infection caused by a protozoa of the genus leishmania and transmitted by sandfly. We report the first case of visceral leishmanaisis in Korea. The patient was a one-year-old girl admitted with the symptoms of fever, abdominal distension. pancytopenia, and purpura. She traveled to Argentina 5 months ago, and has had symptoms such as fever and pale appearance. Laboratory findings were: WBC, 12.680/$mm^3$; Hg, 3.7g/dL; platelet, 100K; total bilirubin, 1.2mg/dL; AST/ALT, 48/10 U/L. CT scan and MRI showed hepato-splenomegaly. On laparotomy, excision of an accessory spleen and splenic hilar lymph nodes were performed. Many amastigotes were microscopically identified in histiocytes from the biopsy tissues. Sodium stibogluconate was administrated for 2 weeks, which did not relieve the symptoms. After administration of the additional Amphotericin B for 3 weeks, symptoms were improved.

• Clinical and Experimental Pediatrics
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• v.57 no.2
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• pp.91-95
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• 2014

Griscelli syndrome type 2 (GS2) is a rare autosomal recessive disease caused by mutations in the RAB27A gene. It is characterized by cutaneous hypopigmentation, immunodeficiency, and hemophagocytic lymphohistiocytosis. We describe 2 brothers who had GS2 with clinically diverse manifestations. The elder brother presented with a purely neurological picture, whereas the younger one presented with fever, pancytopenia, hepatosplenomegaly, and erythema nodosum. Considering that cutaneous hypopigmentation was a common feature between the brothers, genetic analysis for Griscelli syndrome was performed. As the elder sibling had died, mutation analysis was only performed on the younger sibling, which revealed a novel homozygous mutation in the RAB27A gene on chromosome 15 showing a single-base substitution (c.136T>A p.F46I). Both parents were heterozygous for the same mutation. This confirmed the diagnosis of GS2 in the accelerated phase in both siblings. The atypical features of GS2 in these cases are a novel mutation, isolated neurological involvement in one sibling, association with erythema nodosum, and 2 distinct clinical presentations in siblings with the same genetic mutation.

• Clinical and Experimental Pediatrics
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• v.59 no.1
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• pp.43-46
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• 2016

We present a case of tuberculosis-associated hemophagocytic lymphohistiocytosis in a 14-year-old girl. The patient presented with weight loss, malaise, fatigue, prolonged fever, and generalized lymphadenopathy. Laboratory investigation revealed pancytopenia (white blood cells, $2,020cells/{\mu}L$; hemoglobin, 10.2 g/dL; platelets, $52,000cells/{\mu}L$), hypertriglyceridemia (229 mg/dL), and hyperferritinemia (1,420 ng/mL). Bone marrow biopsy showed a hypocellular bone marrow with a large numbers of histiocytes and marked hemophagocytosis; based on these findings, she was diagnosed with hemophagocytic lymphohistiocytosis. Polymerase chain reaction (PCR) with both the bone marrow aspiration and sputum samples revealed the presence of Mycobacterium tuberculosis. Antitubercular therapy with immune modulation therapy including dexamethasone and intravenous immunoglobulin was initiated. The results of all laboratory tests including bone marrow biopsy and PCR with both the bone marrow aspiration and sputum samples were normalized after treatment. Thus, early bone marrow biopsy and the use of techniques such as PCR can avoid delays in diagnosis and improve the survival rates of patients with tuberculosis-associated hemophagocytic lymphohistiocytosis.

• Journal of the Korean Association of Oral and Maxillofacial Surgeons
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• v.27 no.1
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• pp.65-68
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• 2001

The major manifestations of aplastic anemia are characterized by persistent bone marrow aplasia and peripheral pancytopenia due to defective stem cells in which differentiation is not curtailed or preferential elimination of stem cells with self-renewal capacity, which results in serious complications such as bleeding and infection. Recent advances in the therapeutic modalities, such as bone marrow transplantation and immunosuppressive therapy, and in supportive measures as component transfusion and infection control with better quality of antibiotics resulted in an improved survival and subsequently increased possibility of complications which need surgical intervention. Considering the fact that surgery may not only control complications, but offers the opportunity to give effective therapy for aplastic anemia and therefore improves chances for survival, it is strongly suggested that active surgical intervention should be performed. We report a case of patient with aplastic anemia who had been performed surgical intervention of partial maxillectomy for the squamous cell carcinoma on maxilla without serious complications during perioperative and postoperative period.

• Neonatal Medicine
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• v.15 no.2
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• pp.196-199
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• 2008

The interstitial cells of Cajal are the pacemakers in the gastrointestinal tract that modulate gastrointestinal motility. A case of a neonate with intestinal pseudo-obstruction caused by a decreased number of the interstitial cells of Cajal is presented. A premature male infant born at 32 weeks of gestation showed progressive abdominal distention beginning 3 days after initiation of enteral feeding at 15 days of life. No etiologic factors were identified on radiologic studies, a gastrographin enema, and an intestinal biopsy other than a markedly decreased number of the intestinal cells of Cajal. An ileostomy, followed by repair of the ileostomy was done, which resulted in but a limited improvement of the abdominal gas pattern. Respiratory distress, pancytopenia, and abdominal distention persisted, and the infant expired on 142 days of life.

• Maxillofacial Plastic and Reconstructive Surgery
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• v.11 no.2
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• pp.61-66
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• 1989

Osteopetrosis (Albers-Schonberg disease) is a rare disease characterized by generaized sclerosis of bones, hepatoslenomegaly, pancytopenia, multiple fracture, blindness. The disease shows characteristic radiographic feature and two rather well-defined pattern have been recognized. We experienced a case of osteopetrosis in a 31 year old man, who has had pus discharge and fetid odor after extraction of upper maxillary molar. We made a brief review of literature.

• The Journal of Pediatrics of Korean Medicine
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• v.13 no.2
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• pp.79-92
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• 1999

Background/Aims: Aplastic anemia is defined as pancytopenia (anaemia, leucopenia, and thrombocytopenia) result from aplasia of the bone marrow. Many studies have shown that survival rate of aplastic anemia is 50-60% with immunomodulation therapy. In Korea, there is a lack of research considering oriental herbal medicine with aplastic anemia. Methods: It was compared and analyzed that recently several experimental or clinical reports of oriental herbal medicine on aplastic anemia. Results and Conclusion: The oriental herb of Panax ginseng radix, Cprdonopsis pilosula radix, Astragalus membranaceus radix, Atractylodes marcrocephala. Cervi Cornu Parvum, Epimedii Herba, Boshniakiae Herba, Morindae Radix, Angelicae gigantis Radix, Cascutae Semen, Lycii Fructus, Polygoni Multiflori Radix potently stimulated hematopoietic stem cell activity, Response rate to oriental herbal medicine of aplastic anemia was 30-60% and effect rate of aplastic anemia was 73-93%, Bian zheng Lun zhi(辨證論治 treatment according to syndrome differentiation) which based on Shen xu(腎虛) is presumed to approach highest degree effect in response rate.