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1.  Langerhans Cell Sarcoma Arising from Langerhans Cell Histiocytosis: A Case Report 
Journal of Korean Medical Science  2006;21(3):577-580.
Langerhans cell sarcoma (LCS) is a neoplastic proliferation of Langerhans cells that have overtly malignant cytologic features. It is a very rare disease and theoretically, it can present de novo or progress from an antecedent Langerhans cell histiocytosis (LCH). However, to our knowledge, LCS arising from an antecedent LCH has not been reported on. We present here a case of LCS arising from a pulmonary LCH. A 34 yr-old man who was a smoker, had a fever and a chronic cough. Computed tomographic (CT) scan revealed multiple tiny nodules in both lungs. The thoracoscopic lung biopsy revealed LCH. The patient quit smoking, but he received no other specific treatment. One year later, the follow up chest CT scan showed a 4 cm-sized mass in the left lower lobe of the lung. A lobectomy was then performed. Microscopic examination of the mass revealed an infiltrative proliferation of large cells that had malignant cytologic features. Immunohistochemical stains showed a strong reactivity for S-100 and CD68, and a focal reactivity for CD1a. We think this is the first case of LCS arising from LCH.
PMCID: PMC2729972  PMID: 16778410
Histiocytosis, Langerhans-Cell; Sarcoma; Lung
2.  Surgical Management of Bilateral Exudative Retinal Detachment Associated with Central Serous Chorioretinopathy 
To report a case of bilateral bullous exudative retinal detachment in central serous chorioretinopathy (CSC) which was attached by vitrectomy and internal drainage of the subretinal fluid.
A 47-year-old man affected by bilateral atypical CSC with a bullous retinal detachment with subretinal exudate. A fluorescein angiogram (FAG) showed multiple points of leakage and staining of subretinal fibrosis. A tentative diagnosis of Vogt-Koyanagi-Harada (VKH) syndrome was made and the patient was treated with systemic corticosteroids and immunosuppressive agents. However, the subretinal fluid was not absorbed. He was then treated with vitrectomy and internal drainage of subretinal fluid.
The retina was attached successfully in both eyes. Visual acuity improved to 20/50 in his left eye but did not improve in the right eye due to subretinal fibrotic scarring and atropic changes on the macula.
Our case suggests that the surgical management of bullous exudative retinal detachment is safe and necessary.
PMCID: PMC2908829  PMID: 16892652
Bullous retinal detachment; Central serous chorioretinopathy; Subretinal fluid drainage; Vitrectomy
3.  Expression of hypoxic markers and their prognostic significance in soft tissue sarcoma 
Oncology Letters  2015;9(4):1699-1706.
Tumor hypoxia is significant in promoting tumor progression and resistance to therapy, and hypoxia-inducible factor 1α (HIF-1α) is essential in the adaptive response of cells to hypoxia. The aim of the present study was to investigate the expression of hypoxic markers and evaluate their prognostic significance in soft tissue sarcoma (STS). A retrospective analysis of 55 patients with STS from Pusan National University Hospital (Busan, Korea) between 1998 and 2007 was conducted, using immunohistochemistry to analyze the expression of HIF-1α, carbonic anhydrase 9 (CA9), glucose transporter-1 (GLUT1) and vascular endothelial growth factor (VEGF). The association between the overexpression of these markers and clinicopathological characteristics, including the overall survival (OS) and progression-free survival (PFS) in cases of STS, were investigated. Overexpression of HIF-1α, CA9, GLUT1 and VEGF was shown in 54.5, 32.7, 52.7 and 25.5% of tumors, respectively, and all exhibited a significant association with high French Federation of Cancer Centers (FNCLCC) grade and high American Joint Committee on Cancer (AJCC) stage. Overexpression of HIF-1α and CA9 was associated with a shorter OS and a shorter PFS. On multivariate analysis, AJCC stage and HIF-1α overexpression had independent prognostic significance. In the group receiving chemotherapy (n=27), HIF-1α overexpression was independently associated with a decreased OS. These results indicate that overexpression of HIF-1α and CA9 is associated with poor prognosis, and that HIF-1α overexpression is an independent unfavorable prognostic factor in STS.
PMCID: PMC4356356  PMID: 25789026
soft tissue sarcoma; carbonic anhydrase 9; hypoxia; hypoxia-inducible factor 1α; glucose transporter-1; vascular endothelial growth factor
4.  Direct Induction of Hematoendothelial Programs in Human Pluripotent Stem Cells by Transcriptional Regulators 
Nature communications  2014;5:4372.
Advancing pluripotent stem cell technologies for modeling hematopoietic stem cell development and blood therapies requires identifying key regulators of hematopoietic commitment from human pluripotent stem cells (hPSCs). Here, by screening the effect of 27 candidate factors, we reveal two groups of transcriptional regulators capable of inducing distinct hematopoietic programs from hPSCs: panmyeloid (ETV2 and GATA2) and erythro-megakaryocytic (GATA2 and TAL1). In both cases, these transcription factors directly convert hPSCs to endothelium, which subsequently transforms into blood cells with pan-myeloid or erythromegakaryocytic potential. These data demonstrate that two distinct genetic programs regulate the hematopoietic development from hPSCs and that both of these programs specify hPSCs directly to hemogenic endothelial cells. Additionally, this study provides a novel method for the efficient induction of blood and endothelial cells from hPSCs via overexpression of modified mRNA for the selected transcription factors.
PMCID: PMC4107340  PMID: 25019369
5.  Monostotic fibrous dysplasia in the proximal tibial epiphysis: a case report 
Fibrous dysplasia is one of many well-known disorders in which there is a defect in the remodeling process of immature bone to mature into lamellar bone, and it often exists in metaphyseal and diaphyseal parts of the long bone. In this report, we describe a rare case where fibrous dysplasia was found only in the proximal part of the epiphysis of the tibia without other bony lesions.
Case presentation
A 14-year-old Asian girl was referred to our hospital after slipping down with pain on the left knee. A radiograph showed an abnormal finding of a central radiolucent lesion with a marginal sclerotic border near the proximal tibial spine. A magnetic resonance image showed the lesion at low signal intensity on a T1-weighted image and at high signal intensity on a T2-weighted image. The biopsy results led us to conclude that the lesion was a fibrous dysplasia.
If an abnormal lesion on the epiphysis, especially in long bones, is detected on a radiograph, several differential diagnoses can be made. Although fibrous dysplasia is usually not encountered as an epiphyseal lesion, it is important to incorporate all the clinical, radiographic and pathologic features to diagnose monostotic fibrous dysplasia when the lesion is located at the epiphyseal location.
PMCID: PMC4307750  PMID: 25526966
Bone tumor; Epiphysis; Fibrous dysplasia
6.  Contralateral referred pain in a patient with intramedullary spinal cord metastasis from extraskeletal small cell osteosarcoma 
Referred pain has been observed in some patients after cordotomy, wherein noxious stimulus applied to a region rendered analgesic by cordotomy produces pain at a spot different from the one where the noxious stimulus is applied. We report a patient who had intramedullary spinal cord metastasis of extraskeletal small cell osteosarcoma, a rare form of metastatic disease, and experienced contralateral referred pain.
Initially, the patient had a mass in the left posterior neck region and later developed a large extradural mass at the C3–C7 level. The masses were excised, and the histological findings led to a diagnosis of small cell osteosarcoma. He underwent chemotherapy and radiation therapy. He experienced numbness in his left leg; subsequently, the numbness slowly spread up the thigh to the left side of the abdomen. When pinched in the numb area on the left side of the body, he felt as though he had been pinched in both that area and the corresponding area on the right side. A magnetic resonance imaging scan showed an enhancing lesion in the right side of the cord at the C6–C7 level.
Conclusion/clinical relevance
An intramedullary spinal cord metastasis can arise from primary extraskeletal small cell osteosarcoma and cause contralateral referred pain, especially in a mirror-image location. Contralateral referred pain may be caused by a subsidiary pathway comprising ascending chains of short neurons that link the dorsal horn neurons longitudinally and latitudinally.
PMCID: PMC3831333  PMID: 24090113
Cervical vertebrae; Neoplastic metastasis; Osteosarcoma; Referred pain; Spinal cord neoplasms; Intramedullary cordotomy
7.  Tenascin C Promotes Hematoendothelial Development and T Lymphoid Commitment from Human Pluripotent Stem Cells in Chemically Defined Conditions 
Stem Cell Reports  2014;3(6):1073-1084.
The recent identification of hemogenic endothelium (HE) in human pluripotent stem cell (hPSC) cultures presents opportunities to investigate signaling pathways that are essential for blood development from endothelium and provides an exploratory platform for de novo generation of hematopoietic stem cells (HSCs). However, the use of poorly defined human or animal components limits the utility of the current differentiation systems for studying specific growth factors required for HE induction and manufacturing clinical-grade therapeutic blood cells. Here, we identified chemically defined conditions required to produce HE from hPSCs growing in Essential 8 (E8) medium and showed that Tenascin C (TenC), an extracellular matrix protein associated with HSC niches, strongly promotes HE and definitive hematopoiesis in this system. hPSCs differentiated in chemically defined conditions undergo stages of development similar to those previously described in hPSCs cocultured on OP9 feeders, including the formation of VE-Cadherin+CD73−CD235a/CD43− HE and hematopoietic progenitors with myeloid and T lymphoid potential.
Graphical Abstract
•Hemogenic endothelium is generated in a completely defined xenogen-free system•The system reproduces all stages of hematopoietic development•Tenascin C enhances hematoendothelial development from pluripotent stem cells•Tenesacin C uniquely supports T cell specification
In this article, Slukvin and colleagues describe a feeder- and xenogene-free chemically defined platform for differentiating human pluripotent stem cells into definitive hematopoietic cells. They find that Tenascin C, a matrix protein associated with hematopoietic stem cell niches, strongly promotes hemogenic endothelium development and T lymphoid commitment in this system.
PMCID: PMC4263995  PMID: 25448067
9.  The Role of TWIST in Ovarian Epithelial Cancers 
Korean Journal of Pathology  2014;48(4):283-291.
Epithelial-mesenchymal transition (EMT) is associated with tumor hypoxia. EMT is regulated, in part, by the action of TWIST, which inhibits of E-cadherin expression and may interfere with the p53 tumor-suppressor pathway.
We examined the expression of TWIST, E-cadherin, hypoxia-inducible factor 1α (HIF1α), and p53 by immunohistochemistry in 123 cases of ovarian epithelial cancers (OEC) to evaluate the role of TWIST in OEC. We assessed the association between protein expression and clinicopathologic parameters.
The expression of TWIST, E-cadherin, HIF1α, and p53 proteins was found in 28.5%, 51.2%, 35.0%, and 29.3% of cases, respectively. TWIST expression was associated with higher histologic grade and unfavorable survival. TWIST expression was correlated with HIF1α expression and reduced E-cadherin expression. The altered HIF1α/TWIST/E-cadherin pathway was associated with lower overall survival (OS), while the co-expression of TWIST and p53 was correlated with lower progression-free survival. In the multivariate analyses, TWIST expression was an independent prognostic factor for OS.
Our data imply that TWIST expression could be a useful predictor of unfavorable prognosis for OEC. TWIST may affect the p53 tumor-suppressor pathway. Moreover, hypoxia-mediated EMT, which involves the HIF1α/TWIST/E-cadherin pathway may play an important role in the progression of OEC.
PMCID: PMC4160591  PMID: 25214860
Ovarian epithelial cancer; TWIST transcription factor; Cadherins; HIF1α; Tumor suppressor protein p53
10.  Prognostic significance of WT1 expression in soft tissue sarcoma 
Soft tissue sarcomas (STS) are rare. We evaluated the WT1 protein expression level in various types of STS and elucidated the value of WT1 as a prognostic factor and a possible therapeutic target.
Immunohistochemical staining for WT1 was performed in 87 cases of STS using formalin-fixed, paraffin-embedded blocks. The correlation between WT1 expression and clinicopathological factors was analyzed. Survival analysis was conducted in 67 patients. We assessed the validity of WT1 immunohistochemistry as an index of WT1 protein expression using Western blot analysis.
WT1 expression was noted in 47 cases (54.0%). Most rhabdomyosarcomas and malignant peripheral nerve sheath tumors showed WT1 expression (91.7% and 71.4%, respectively; P = 0.005). WT1 expression was related to higher FNCLCC histologic grade and AJCC tumor stage. In the group with high grade STS, strong WT1 expression was correlated with better survival (P = 0.025). The immunohistochemical results were correlated quantitatively with the staining score and the concentration of the Western blot band.
This study demonstrates that various types of STS show positive immunostaining for WT1 and that WT1 expression has a prognostic significance. So STS should be considered candidates for WT1 peptide--based immunotherapy.
PMCID: PMC4114094  PMID: 25026998
11.  Cyclosporine A as a Primary Treatment for Panniculitis-like T Cell Lymphoma: A Case with a Long-Term Remission 
Subcutaneous panniculitis-like T cell lymphoma (SPTL) is a distinctive cutaneous lymphoma characterized by an infiltration of subcutaneous tissue by neoplastic T cells, similar to panniculitis. It is well-established that patients who are diagnosed with SPTL usually respond poorly to chemotherapy, showing fatal outcome. As a first line treatment for SPTL, anthracycline-based chemotherapy was most frequently used. For the treatment of SPTL, the efficacy of cyclosporine A has been recently reported in relapsed SPTL after anthracycline-based chemotherapy. However, it is still not clear whether cyclosporine A can be used as a first-line treatment against SPTL. Here, we report a case of SPTL, which achieved complete remission for nine years after first-line cyclosporine A therapy. This study suggests that cyclosporine A can induce a complete long-term remission as a first-line treatment.
PMCID: PMC4132451  PMID: 25038767
Subcutaneous panniculitis-like T cell lymphoma; Cyclosporine A; Remission
12.  Genome-Wide SNP Calling Using Next Generation Sequencing Data in Tomato 
Molecules and Cells  2014;37(1):36-42.
The tomato (Solanum lycopersicum L.) is a model plant for genome research in Solanaceae, as well as for studying crop breeding. Genome-wide single nucleotide polymorphisms (SNPs) are a valuable resource in genetic research and breeding. However, to do discovery of genome-wide SNPs, most methods require expensive high-depth sequencing. Here, we describe a method for SNP calling using a modified version of SAMtools that improved its sensitivity. We analyzed 90 Gb of raw sequence data from next-generation sequencing of two resequencing and seven transcriptome data sets from several tomato accessions. Our study identified 4,812,432 non-redundant SNPs. Moreover, the workflow of SNP calling was improved by aligning the reference genome with its own raw data. Using this approach, 131,785 SNPs were discovered from transcriptome data of seven accessions. In addition, 4,680,647 SNPs were identified from the genome of S. pimpinellifolium, which are 60 times more than 71,637 of the PI212816 transcriptome. SNP distribution was compared between the whole genome and transcriptome of S. pimpinellifolium. Moreover, we surveyed the location of SNPs within genic and intergenic regions. Our results indicated that the sufficient genome-wide SNP markers and very sensitive SNP calling method allow for application of marker assisted breeding and genome-wide association studies.
PMCID: PMC3907006  PMID: 24552708
next generation sequencing (NGS); single nucleotide polymorphism (SNP); tomato
13.  Identification of Novel Pepper Genes Involved in Bax- or INF1-Mediated Cell Death Responses by High-Throughput Virus-Induced Gene Silencing 
Hot pepper is one of the economically important crops in Asia. A large number of gene sequences, including expressed sequence tag (EST) and genomic sequences are publicly available. However, it is still a daunting task to determine gene function due to difficulties in genetic modification of a pepper plants. Here, we show the application of the virus-induced gene silencing (VIGS) repression for the study of 459 pepper ESTs selected as non-host pathogen-induced cell death responsive genes from pepper microarray experiments in Nicotiana benthamiana. Developmental abnormalities in N. benthamiana plants are observed in the 32 (7%) pepper ESTs-silenced plants. Aberrant morphological phenotypes largely comprised of three groups: stunted, abnormal leaf, and dead. In addition, by employing the combination of VIGS and Agrobacterium-mediated transient assays, we identified novel pepper ESTs that involved in Bax or INF1-mediated cell death responses. Silencing of seven pepper ESTs homologs suppressed Bax or INF1-induced cell death, five of which suppressed both cell death responses in N. benthamiana. The genes represented by these five ESTs encode putative proteins with functions in endoplasmic reticulum (ER) stress and lipid signaling. The genes represented by the other two pepper ESTs showing only Bax-mediated cell death inhibition encode a CCCH-type zinc finger protein containing an ankyrin-repeat domain and a probable calcium-binding protein, CML30-like. Taken together, we effectively isolated novel pepper clones that are involved in hypersensitive response (HR)-like cell death using VIGS, and identified silenced clones that have different responses to Bax and INF1 exposure, indicating separate signaling pathways for Bax- and INF1-mediated cell death.
PMCID: PMC3856090  PMID: 24256816
Bax-induced cell death; hot chili pepper (Capsicum annum); hypersensitive response; INF1; Nicotiana benthamiana; virus-induced gene silencing
14.  Adventitial Cystic Disease of the Common Femoral Artery: A Case Report and Literature Review 
Arterial adventitial cystic disease is an uncommon type of non-atherosclerotic peripheral vessel disease. Most cases of arterial adventitial cystic disease occur in the popliteal arteries; however, fewer cases have been reported in the femoral arteries. A 59-year-old male patient visited the hospital with a complaint of a swelling on the lower extremity that had begun two months earlier. Suspecting deep vein thrombosis based on a physical examination and ultrasonography from another hospital, tests were performed. Magnetic resonance imaging (MRI) was performed for exact diagnosis because venous adventitial cystic disease was suspected by computed tomography venography. The MRI indicated venous adventitial cystic disease as well. Thus, a cystic mass excision was performed. In the end, a cystic mass compressing the common femoral vein that originated from the common femoral artery was diagnosed based on the macroscopic findings. This case is reported because blood circulation in the vein was impeded due to arterial adventitial cystic disease, and the symptoms improved after the cystic mass excision and polytetrafluoroethylene roofing angioplasty.
PMCID: PMC3631792  PMID: 23614104
Adventitial cystic disease; Peripheral vascular disease
15.  Prognostic Relevance of the Expression of CA IX, GLUT-1, and VEGF in Ovarian Epithelial Cancers 
Korean Journal of Pathology  2012;46(6):532-540.
Tumor hypoxia is associated with malignant progression and treatment resistance. Hypoxia-related factors, such as carbonic anhydrase IX (CA IX), glucose transporter-1 (GLUT-1), and vascular endothelial growth factor (VEGF) permit tumor cell adaptation to hypoxia. We attempted to elucidate the correlation of these markers with variable clinicopathological factors and overall prognosis.
Immunohistochemistry for CA IX, GLUT-1, and VEGF was performed on formalin-fixed, paraffin-embedded tissues from 125 cases of ovarian epithelial cancer (OEC).
CA IX expression was significantly associated with an endometrioid and mucinous histology, nuclear grade, tumor necrosis, and mitosis. GLUT-1 expression was associated with tumor necrosis and mitosis. VEGF expression was correlated only with disease recurrence. Expression of each marker was not significant in terms of overall survival in OECs; however, there was a significant correlation between poor overall survival rate and high coexpression of these markers.
The present study suggests that it is questionable whether CA IX, GLUT-1, or VEGF can be used alone as independent prognostic factors in OECs. Using at least two markers helps to predict patient outcomes in total OECs. Moreover, the inhibition of two target gene combinations might prove to be a novel anticancer therapy.
PMCID: PMC3540330  PMID: 23323103
Ovarian epithelial cancer; Carbonic anhydrase IX; GLUT-1; Vascular endothelial growth factor A
16.  Expression and significance of the TLR4/MyD88 signaling pathway in ovarian epithelial cancers 
Toll-like receptors (TLR) are a family of pattern recognition receptors that constitutes a major part of the innate immune system. The TLR4/(Myeloid differentiation factor 88 (MyD88) signaling pathway has been shown to have oncogenic effects.
To demonstrate the role of TLR4/MyD88 signaling in ovarian epithelial cancers (OECs), we examined the expression of TLR4, MyD88 and nuclear factor- κB (NF-κB) in OECs. The expression of TLR4, MyD88, and NF-κB was detected by immunohistochemistry, and the relationships between these and clinicopathologic features in 123 cases of OECs were also analyzed.
The expression of TLR4, MyD88, and NF-κB in OECs was observed in 46.3% (57/123), 36.6% (45/123) and 65% (80/123) of OEC cases, respectively. The TLR4, MyD88, and NF-κB expressions were associated with the histologic type of OECs, particularly with the clear cell type of OEC. There was no significant correlation between TLR4 or NF-κB expression and histologic grade, tumor size, mitotic count, FIGO (International Federation of Gynecology and Obstetrics) stage, disease recurrence. However, there was a significant correlation between MyD88 expression and FIGO stage, disease recurrence as well as histologic type. In univariate analysis, the expression of TLR4 and MyD88, and the coexpression of TLR4/MyD88 and TLR4/MyD88/NF-κB had a significant impact on the survival of patients with OECs. Only MyD88 expression had an independent prognostic significance in multivariate analysis.
Our findings suggest that the TLR4/MyD88 signaling pathway is associated with the survival of patients with OECs, and that MyD88 is an independent prognostic predictor in patients with OECs. The TLR4/MyD88 signaling pathway may be a mechanism responsible for poor prognosis in patients with clear cell type of OEC.
PMCID: PMC3539930  PMID: 22985132
Toll-like receptor; MyD88; Ovarian epithelial cancer
17.  Cyclosporine A treatment for relapsed subcutaneous panniculitis-like T-cell lymphoma: a case with long-term follow-up 
The Korean Journal of Hematology  2012;47(2):146-149.
Subcutaneous panniculitis-like T-cell lymphoma (SPTL) is a distinctive lymphoma characterized by an infiltration of subcutaneous tissue by neoplastic cytotoxic T cells. There was no distinction between TCR alpha/beta phenotype and TCR gamma/delta phenotype, and anthracycline-based chemotherapy was usually used for both. Here, we report a patient with recurrent SPTL who achieved a second long-term complete remission by repeated cyclosporine A (CsA) treatment. From 2000 to 2001, the patient received anthracycline-based combination chemotherapy. However, the treatment did not induce long-term remission. In 2002, he received cyclosporine treatment for about 6 months. This resulted in a 5-year remission that ended in relapse in 2008. He received CsA treatment once again and attained a second long-term remission. This case suggests that re-treatment with CsA can be a good option for relapsed SPTL cases and can result in long-term remission.
PMCID: PMC3389065  PMID: 22783363
Subcutaneous panniculitis-like T-cell lymphoma; Cyclosporine; Treatment outcome
18.  Osteoclast-like Giant Cell Tumor of Parotid Gland with a Carcinomatous Component: A Case Report 
Korean Journal of Pathology  2012;46(3):297-301.
The giant cell tumor of the salivary gland is very rare, and 20 cases have been reported in the English-language literature. We report an additional case. A 57-year old man had noticed a mass in the right parotid area for several weeks. The diagnosis using aspiration cytology was a giant cell tumor possibly with a carcinomatous component. Superficial parotidectomy was carried out. The resected parotid gland contained a 1.8 cm-sized well-circumscribed brownish tumor. Histologically the tumor consisted of evenly distributed osteoclast-like giant cells, mononuclear cells and two small foci of a carcinomatous component. The osteoclast-like giant cells and mononuclear cells were positive for vimentin and CD68, and the carcinomatous component was positive for cytokeratin and epithelial membrane antigen. There was no metastatic lesion in the cervical lymph nodes. We believe this is the first case in Korea of an osteoclast-like giant cell tumor of the parotid gland.
PMCID: PMC3479769  PMID: 23110019
Giant cell tumors; Salivary glands
19.  Characterization of macular lesions in punctate inner choroidopathy with spectral domain optical coherence tomography 
Punctate inner choroidopathy (PIC) is an ocular inflammatory disease. Spectral domain optical coherence tomography (SD-OCT) allows detailed visualization of retinal and choroidal structures. We aimed to describe the retinal changes on SD-OCT associated with PIC lesions localized in the macula.
Retrospective case series: PIC lesions not associated with choroidal neovascularization (CNV) and captured by macular SD-OCT scans were identified and characterized.
Twenty-seven PIC lesions from seven patients (eight eyes) were identified and classified into four categories according to disease activity and temporal changes. Among clinically inactive patients, two main patterns were noted on OCT: (1) retinal pigment epithelium (RPE) elevation with sub-RPE hyper-reflective signals and (2) localized disruption of outer retinal layers with choroid and Bruch's membrane (BM) generally spared. Clinically active patients demonstrated lesions with intact BM with RPE elevation that fluctuated with disease activity and sub-RPE hyper-reflective signals. Photoreceptor-associated bands on SD-OCT (PRs) were not visible during active disease, but returned to normal visibility when lesions were clinically stable. Seven lesions in patients without clinically detected activity demonstrated alteration of RPE elevation.
SD-OCT can provide detailed structural characteristics of PIC lesions. RPE elevation is noted in many lesions while BM and choroid are spared. Photoreceptor-associated bands on SD-OCT appear compressed during clinically active stages and are visible during stabilization. OCT may provide information on activity not detected clinically.
Electronic supplementary material
The online version of this article (doi:10.1007/s12348-011-0054-6) contains supplementary material, which is available to authorized users.
PMCID: PMC3438299  PMID: 22210152
Choroid; Optical coherence tomography (OCT); Punctate inner choroidopathy (PIC); Retinal pigment epithelium (RPE)
20.  Importance of proper diagnosis for management: multifocal choroiditis mimicking ocular histoplasmosis syndrome 
The study aims to evaluate a series of patients with initial diagnosis of ocular histoplasmosis syndrome (OHS) with progression and response to treatments consistent with multifocal choroiditis (MFC).
Retrospective review of nine patients referred for management of recurrent OHS lesions. Serology panel was conducted to rule out autoimmune and infectious causes.
Clinical examination revealed multiple small, punched-out peripheral chorioretinal scars, and peripapillary atrophy. Histoplasma antigen/antibody was negative in all patients. Fluorescein angiography and optical coherence tomography confirmed active inflammation in five patients. Immunomodulatory therapy (IMT) was initiated to control active inflammation. While on IMT, visual acuity stabilized or improved in three patients with no recurrence of CNV or lesion activities over the follow-up period.
MFC may initially masquerade as OHS. Clinical characteristics of recurrent MFC and absence of histoplasma titer may lead to consideration of IMT and other proper treatments for MFC.
PMCID: PMC3102844  PMID: 21484182
Multifocal choroiditis; Ocular histoplasmosis syndrome
21.  Importance of proper diagnosis for management: multifocal choroiditis mimicking ocular histoplasmosis syndrome 
The study aims to evaluate a series of patients with initial diagnosis of ocular histoplasmosis syndrome (OHS) with progression and response to treatments consistent with multifocal choroiditis (MFC).
Retrospective review of nine patients referred for management of recurrent OHS lesions. Serology panel was conducted to rule out autoimmune and infectious causes.
Clinical examination revealed multiple small, punched-out peripheral chorioretinal scars, and peripapillary atrophy. Histoplasma antigen/antibody was negative in all patients. Fluorescein angiography and optical coherence tomography confirmed active inflammation in five patients. Immunomodulatory therapy (IMT) was initiated to control active inflammation. While on IMT, visual acuity stabilized or improved in three patients with no recurrence of CNV or lesion activities over the follow-up period.
MFC may initially masquerade as OHS. Clinical characteristics of recurrent MFC and absence of histoplasma titer may lead to consideration of IMT and other proper treatments for MFC.
PMCID: PMC3102844  PMID: 21484182
Multifocal choroiditis; Ocular histoplasmosis syndrome
22.  A Case of Shwachman-Diamond Syndrome Confirmed with Genetic Analysis in a Korean Child 
Journal of Korean Medical Science  2008;23(1):142-145.
Shwachman-Diamond syndrome (SDS) is an autosomal recessive genetic disorder, consisting of exocrine pancreatic insufficiency, chronic neutropenia, neutrophil chemotaxis defects, metaphyseal dysostosis, short stature, dental caries, and multiple organ involvements. Although SDS is the second most common hereditary abnormality of exocrine pancreas following cystic fibrosis in the Western countries, it has rarely been reported in Asia. We diagnosed a case of SDS in a 42-month-old girl, and genetic analysis including the relatives of the patient confirmed the diagnosis for the first time in Korea. She had short stature, steatorrhea, dental caries, and recurrent prulent otitis media and pneumonias. Laboratory studies revealed cyclic neutropenia, and serum levels of trypsin, amylase, and lipase were decreased. Simple radiography revealed metaphyseal sclerotic changes at the distal femur. A CT scan demonstrated a fatty infiltration and atrophy of the pancreas. On direct sequencing analysis of Shwachman-Bodian-Diamond Syndrome gene exon 2 region, the patient was homozygous for the c.258+2T>C mutation and heterozygous for the c.183_184TA>CT mutation and c.201A>G single nucleotide polymorphism. Treatment with pancreatic enzyme replacement, multivitamin supplementation, and regular to high fat diet improved her weight gain and steatorrhea.
PMCID: PMC2526486  PMID: 18303216
Shwachman-Diamond Syndrome; Mutation; Korea

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