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Frequently Delayed Diagnosis and Misdiagnosis in MYH9-related Disorders: Data from Genetically Confirmed Cases of Korean Patients

Park CH, Kim YE, Lee KO, Kim SH, Oh KH, Kim I, Oh D, Kim HJ

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

Jang Y, Kim N, Khwarg SI, Choung HK

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

Gupta A, Tripathi P, Tyagi S

No abstract available.
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Cell-to-cell Transmission of Polyglutamine Aggregates in C. elegans

Kim DK, Cho KW, Ahn WJ, Perez-Acuña D, Jeong H, Lee HJ, Lee SJ

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

Lee JH, Jang YJ

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

Chung WY, Kang MS

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

Park SJ, Wy H, Jung HL, Shim JW, Shim JY, Kim DS, Park MS, Seo SH, Seong MW

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

Bak EJ, Woo GH

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

Seok JY, An J, Ha SY, Chung DH, Lee S, Kim H

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

Yoon KT, Jang YH, Lee SH, Lee JH, Yang JO, Lee EY, Hong SY

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

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

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

Choi IH, Kim DW, Ha SY, Choi YL, Lee HJ, Han J

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

Choi UY, Choi WY, Hur JY, Kim YJ

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

Oh T, Seo HJ, Lee KT, Kim HJ, Kim HJ, Lee JH, Cheong HI, Lee EY

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

Cakir M, Ersoz S, Akbulut UE

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

Shin JY, Ko EJ, Bang BW, Kwon KS, Kim HG, Shin YW, Kim JM, Ki SH

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

Chun J, Lee C, Kwon JE, Hwang SW, Kim SG, Kim JS, Jung HC, Im JP

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

Choi IH, Kim SW, Kim JS, Oh YL

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?

Sturm E, Stefanova

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

Kim JY, Lee SH

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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