- Frequently Delayed Diagnosis and Misdiagnosis in MYH9-related Disorders: Data from Genetically Confirmed Cases of Korean Patients
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Park CH, Kim YE, Lee KO, Kim SH, Oh KH, Kim I, Oh D, Kim HJ
- KMID: 2458682
- Lab Med Online.
- 2019 Oct;9(4):224-231.
- doi: 10.3343/lmo.2019.9.4.224
MYH9-related disorders (MYH9RD) are autosomal-dominant disorders characterized by macrothrombocytopenia with or without leukocyte inclusion bodies or extra-hematological features, such as sensorineural deafness and renal impairment. MYH9RD can be misdiagnosed as... -
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- Molluscum Contagiosum of the Eyelid Margin: a Case Series and Literature Review
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Jang Y, Kim N, Khwarg SI, Choung HK
- KMID: 2438068
- J Korean Ophthalmol Soc.
- 2019 Feb;60(2):103-108.
- doi: 10.3341/jkos.2019.60.2.103
PURPOSE: We report 9 cases of molluscum contagiosum of the eyelid margin and a literature review. METHODS: A retrospective, observational case series of 9 patients who were diagnosed with molluscum contagiosum... -
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- Cytoplasmic azurophilic inclusion bodies in reactive plasmacytosis
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Gupta A, Tripathi P, Tyagi S
- KMID: 2429295
- Blood Res.
- 2018 Dec;53(4):265-265.
- doi: 10.5045/br.2018.53.4.265
No abstract available. -
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- Cell-to-cell Transmission of Polyglutamine Aggregates in C. elegans
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Kim DK, Cho KW, Ahn WJ, Perez-Acuña D, Jeong H, Lee HJ, Lee SJ
- KMID: 2398420
- Exp Neurobiol.
- 2017 Dec;26(6):321-328.
- doi: 10.5607/en.2017.26.6.321
Huntington disease (HD) is an inherited neurodegenerative disorder characterized by motor and cognitive dysfunction caused by expansion of polyglutamine (polyQ) repeat in exon 1 of huntingtin (HTT). In patients, the... -
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- Development of Refolding Process to Obtain Active Recombinant Human Bone Morphogenetic Protein-2 and its Osteogenic Efficacy on Oral Stem Cells
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Lee JH, Jang YJ
- KMID: 2385808
- Int J Oral Biol.
- 2017 Jun;42(2):71-78.
- doi: 10.11620/IJOB.2017.42.2.071
BMP-2 is a well-known TGF-beta related growth factor, having a significant role in bone and cartilage formation. It has been employed to promote bone formation in some clinical trials, and... -
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- A 10-year-old Boy with Microscopic Hematuria and Renal Biopsy Findings Mimicking Fabry Disease
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Chung WY, Kang MS
- KMID: 2366601
- Child Kidney Dis.
- 2016 Oct;20(2):79-82.
- doi: 10.3339/jkspn.2016.20.2.79
Fabry disease is an X-linked lysosomal storage disorder caused by a deficiency of the enzyme α-galactosidase A, resulting in the accumulation of glycosphingolipids within the lysosomes of various cell types.... -
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- A Case of Myosin-heavy-chain-9 (MYH9) Gene Mutation Confirmed May-Hegglin Anomaly: 11-year Follow-up
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Park SJ, Wy H, Jung HL, Shim JW, Shim JY, Kim DS, Park MS, Seo SH, Seong MW
- KMID: 2358373
- Clin Pediatr Hematol Oncol.
- 2016 Oct;23(2):167-170.
- doi: 10.15264/cpho.2016.23.2.167
May-Hegglin anomaly (MHA) is a myosin-heavy-chain-9 (MYH9)-related disorder characterized by thrombocytopenia with giant platelets and inclusion bodies in leukocytes. MHA does not require treatment, but it may be misdiagnosed as... -
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- Pox viral infection in a rufous turtle dove
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Bak EJ, Woo GH
- KMID: 2368740
- Korean J Vet Res.
- 2016 Mar;56(1):41-44.
- doi: 10.14405/kjvr.2016.56.1.41
A dead dove was found on the road and submitted for diagnosis. The bird was severely emaciated, with deformation in its facial area. Grossly, white coalescing nodules were seen on... -
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- Morphologic Analysis of Cytomegalovirus Infected Cells in Bronchial Washing Cytology: Comparison of Liquid-Based Preparation and Conventional Smear
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Seok JY, An J, Ha SY, Chung DH, Lee S, Kim H
- KMID: 2211382
- J Pathol Transl Med.
- 2016 Mar;50(2):147-154.
- doi: 10.4132/jptm.2015.12.25
BACKGROUND: The cytopathic effects of cytomegalovirus (CMV) infection have been well described since the virus was first reported; however, the morphology of CMV infection has not been clearly studied. We... -
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- Two Cases of Fabry Disease in Women with Proteinuria Diagnosed by Molecular Analysis of the alpha-Galactosidase A Gene and Kidney Biopsy
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Yoon KT, Jang YH, Lee SH, Lee JH, Yang JO, Lee EY, Hong SY
- KMID: 2268960
- Korean J Med.
- 2015 Nov;89(5):571-575.
- doi: 10.3904/kjm.2015.89.5.571
Fabry disease is an X-linked lysosomal storage disorder caused by alpha-galactosidase A deficiency, which results in the intracellular accumulation of globotriaosylceramide and leads to severe painful neuropathy with progressive renal,... -
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- An Autopsy Confirmed Case of Behavioral Variant Frontotemporal Dementia with Corticobasal Degeneration Pathology
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Kim EJ, Park SH, Lee JH, Lee JH, Lee YM, Kim SJ, Shin JH, Shin MJ, Lee MJ, Ahn JW, Sung S, Park DY, Jung DS, Seeley WW, Huh GY
- KMID: 2184595
- J Korean Neurol Assoc.
- 2015 Aug;33(3):178-182.
- doi: 10.17340/jkna.2015.3.7
A 63-year-old man presented with a 1.5-year history of progressive personality changes. Clinical evaluations revealed severe frontal dysfunction and bilateral frontal atrophy/glucose hypometabolism. He was diagnosed as probable behavioral variant... -
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- Analysis of Histologic Features Suspecting Anaplastic Lymphoma Kinase (ALK)-Expressing Pulmonary Adenocarcinoma
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Choi IH, Kim DW, Ha SY, Choi YL, Lee HJ, Han J
- KMID: 2151140
- J Pathol Transl Med.
- 2015 Jul;49(4):310-317.
- doi: 10.4132/jptm.2015.05.13
BACKGROUND: Since 2007 when anaplastic lymphoma kinase (ALK) rearrangements were discovered in non-small cell lung cancer, the ALK gene has received attention due to ALK-targeted therapy, and a notable treatment... -
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- Polyubiquitin chain-dependent protein degradation in TRIM30 cytoplasmic bodies
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Choi UY, Choi WY, Hur JY, Kim YJ
- KMID: 2070278
- Exp Mol Med.
- 2015 Apr;47(4):e159.
- doi: 10.1038/emm.2015.12
Viral infection induces numerous tripartite motif (TRIM) proteins to control antiviral immune signaling and viral replication. Particularly, SPRY-containing TRIM proteins are found only in vertebrates and they control target protein... -
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- MYH9 nephropathy
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Oh T, Seo HJ, Lee KT, Kim HJ, Kim HJ, Lee JH, Cheong HI, Lee EY
- KMID: 2381514
- Kidney Res Clin Pract.
- 2015 Mar;34(1):53-56.
- doi: 10.1016/j.krcp.2014.09.003
MYH9-related disorder is an autosomal dominant disease caused by a mutation in the MYH9 gene, which encodes nonmuscle myosin heavy chain IIA (NMMHC-IIA). This disease is characterized by giant platelets,... -
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- Disseminated Cytomegalovirus Infection and Protein Losing Enteropathy as Presenting Feature of Pediatric Patient with Crohn's Disease
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Cakir M, Ersoz S, Akbulut UE
- KMID: 2315537
- Pediatr Gastroenterol Hepatol Nutr.
- 2015 Mar;18(1):60-65.
- doi: 10.5223/pghn.2015.18.1.60
We report a pediatric patient admitted with abdominal pain, diffuse lower extremity edema and watery diarrhea for two months. Laboratory findings including complete blood count, serum albumin, lipid and immunoglobulin... -
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- A Case of Cytomegalovirus-associated Giant Gastric Ulcer in a Patient Who Healed by Discontinuing Immunosuppressive Therapy
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Shin JY, Ko EJ, Bang BW, Kwon KS, Kim HG, Shin YW, Kim JM, Ki SH
- KMID: 2083685
- Korean J Helicobacter Up Gastrointest Res.
- 2015 Mar;15(1):44-48.
- doi: 10.7704/kjhugr.2015.15.1.44
Cytomegalovirus (CMV) is not a rare infection and is frequently observed in immuoncompromised patients. CMV infection is usually asymptomatic in immunocompetent patients however it can be a major cause of... -
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- Usefulness of the Cytomegalovirus Antigenemia Assay in Patients With Ulcerative Colitis
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Chun J, Lee C, Kwon JE, Hwang SW, Kim SG, Kim JS, Jung HC, Im JP
- KMID: 1807376
- Intest Res.
- 2015 Jan;13(1):50-59.
- doi: 10.5217/ir.2015.13.1.50
BACKGROUND/AIMS: Patients with ulcerative colitis (UC) are at high risk for cytomegalovirus (CMV) reactivation. The usefulness of the CMV antigenemia assay in active UC patients has rarely been studied. We... -
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- Cytological Features of a Lymphoepithelial Cyst Collected from Fine Needle Aspiration of the Thyroid Gland That Mimicked Papillary Thyroid Carcinoma: A Case Report
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Choi IH, Kim SW, Kim JS, Oh YL
- KMID: 2317740
- Soonchunhyang Med Sci.
- 2014 Dec;20(2):131-135.
- doi: 10.0000/sms.2014.20.2.131
Since its first description in 1989, lymphoepithelial cyst of the thyroid gland (LEC-T) has been generally considered a branchial cleft derivative similar to its presentation in other sites, including thymus,... -
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- Multiple System Atrophy: Genetic or Epigenetic?
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Sturm E, Stefanova
- KMID: 2165534
- Exp Neurobiol.
- 2014 Dec;23(4):277-291.
- doi: 10.5607/en.2014.23.4.277
Multiple system atrophy (MSA) is a rare, late-onset and fatal neurodegenerative disease including multisystem neurodegeneration and the formation of alpha-synuclein containing oligodendroglial cytoplasmic inclusions (GCIs), which present the hallmark of... -
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- Inclusion Body Fibromatosis of Finger in a 5-year Old Girl: A Case Report
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Kim JY, Lee SH
- KMID: 1799897
- J Korean Bone Joint Tumor Soc.
- 2014 Dec;20(2):80-84.
- doi: 10.5292/jkbjts.2014.20.2.80
Inclusion body fibromatosis is a rare benign soft tissue neoplasm typically involving fingers and toes of children in mostly less than one year old. Histologic findings include spindle-shaped fibroblasts surrounded... -
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