Dentatorubropallidoluysian atrophy (DRPLA) is a neurodegenerative disease caused by an expansion of a cytosine-adenine-guanine (CAG) repeat encoding a polyglutamine tract in the atrophin-1 protein. Unlike other CAG repeat diseases, sleep related problems have not been reported in patients with DRPLA. There was a 65-year-old man and his family with DRPLA. They suffered from seizure, gait disturbance, and cognitive decline. The patients commonly showed dream enacting sleep disorder, insomnia. The results from overnight polysomnography showed rapid eye movement (REM) without atonia in patients with DRPLA. The man died 2 years after diagnosis and was subjected for brain autopsy. We report REM sleep behavior disorders in patients with DRPLA confirmed with polysomnography with pathological description of the patient.
Aged ; Atrophy* ; Autopsy ; Brain ; Cerebellar Ataxia ; Diagnosis ; Dreams ; Gait ; Humans ; Mental Disorders ; Neurodegenerative Diseases ; Polysomnography ; Seizures ; Sleep Initiation and Maintenance Disorders ; Sleep Wake Disorders ; Sleep, REM

Colchicine-induced neuromyopathy is an extremely rare complication, and can develop in the setting of acute overdose or chronic administration in therapeutic doses. A 72-year-old man presented with proximal muscle weakness and myalgia. He had angina pectoris and Behçet’s disease, leading to the treatment of colchicine (1.2 mg daily for about 6 years), cyclosporine, methylprednisolone, simvastatin, and aspirin. A biceps brachii muscle biopsy was performed and electron microscopic examination revealed scattered autophagic vacuoles. He was initially treated with steroid pulse therapy. However, muscle weakness did not improve. After the discontinuation of colchicine, muscle power and myalgia improved steadily. There should be heightened awareness of colchicine-induced neuromyopathy because that clinical suspicion is the most important diagnostic clue, and termination of colchicine is the only treatment.

No abstract available.
Microscopy, Electron* ; Muscular Diseases* ; Pathology*

No abstract available.
Glycogen Storage Disease Type V* ; Glycogen Storage Disease* ; Glycogen* ; Humans ; Rhabdomyolysis* ; Seizures*

BACKGROUND: Mutations in the gene encoding periaxin (PRX) are known to cause autosomal recessive Dejerine-Sottas neuropathy (DSN) or Charcot-Marie-Tooth disease type 4F. However, there have been no reports describing Korean patients with these mutations. CASE REPORT: We examined a Korean DSN patient with an early-onset, slowly progressive, demyelinating neuropathy with prominent sensory involvement. Whole-exome sequencing and subsequent capillary sequencing revealed novel compound heterozygous nonsense mutations (p.R392X and p.R679X) in PRX. One mutation was transmitted from each of the patient's parents. No unaffected family member had both mutations, and the mutations were not found in healthy controls. CONCLUSIONS: We believe that these novel compound heterozygous nonsense mutations are the underlying cause of DSN. The clinical, electrophysiologic, and pathologic phenotypes in this family were similar to those described previously for patients with PRX mutations. We have identified the first PRX mutation in a Korean patient with DSN.
Capillaries ; Charcot-Marie-Tooth Disease ; Codon, Nonsense ; Hereditary Sensory and Motor Neuropathy* ; Humans ; Parents ; Peripheral Nerves ; Phenotype

PURPOSE: Forkhead box P3 (Foxp3) is known as the most specific marker for regulatory T lymphocytes, which play an important role in immune tolerance to disturb antitumor immunity. The present study aimed to investigate the prognostic significance of Foxp3 regulatory T lymphocyte (Foxp3 Treg) infiltration in breast cancer. METHODS: Immunohistochemical studies with Foxp3, CD4, and CD8 were performed on representative full tissue sections from 143 patients with invasive ductal carcinoma, not otherwise specified. Foxp3 Treg infiltration and the ratios between Foxp3 Treg and CD4 or CD8 T cells were separately analyzed for the tumor bed and tumor periphery to evaluate their association with different clinicopathological parameters and patients' outcome. RESULTS: The tumor periphery was considerably more densely infiltrated by Foxp3 Treg, CD4, and CD8 T cells than the tumor bed. Unfavorable clinicopathological parameters (a Ki-67 labeling index of > or =14%, a worse histologic grade, a worse nuclear grade, hormone receptor negativity, human epidermal growth factor receptor 2 positivity, and tumor recurrence) were associated with increased Foxp3 Treg infiltration and a high ratio between Foxp3 Treg and CD4/CD8 T cells. In the tumor periphery, as Foxp3 Treg infiltration and the Foxp3 Treg/CD8 ratio increased, patients' 5-year disease-free survival rate decreased. CONCLUSION: The infiltration densities of Foxp3 Treg, CD4, and CD8 T cells were markedly different between the tumor bed and periphery. Besides the absolute count of Foxp3 Treg, the ratio between Foxp3 Treg and effector T cells was a significant prognostic factor in breast cancer.
Breast Neoplasms* ; Breast* ; Carcinoma, Ductal ; Disease-Free Survival ; Fluconazole* ; Humans ; Immune Tolerance ; Lymphocytes ; Receptor, Epidermal Growth Factor ; T-Lymphocytes ; T-Lymphocytes, Regulatory

BACKGROUND: Triple negative breast cancer (TNBC) is defined as a lack of the expression of estrogen receptor, progesterone receptor and human epidermal growth factor receptor 2 in breast cancer. Many TNBCs show a profound infiltration of tumor infiltrating lymphocytes (TILs). It is still uncertain whether these TILs are protumoral or antitumoral. Regulatory T cells (Tregs) play a role in inducing immune tolerance to antigens, and they may be selectively recruited by cancer cells. This study was conducted to evaluate the significance of TILs with an emphasis on forkhead box p3 (Foxp3), which is a marker for CD25+CD4+ Treg in TNBC. METHODS: We investigated the Foxp3, CD8 and CD4 expressions in 100 cases of TNBC by immunohistochemistry and using a tissue microarray. The Foxp3 expression was divided as the high and low infiltration groups (cut-off value=20). RESULTS: The high infiltration group was correlated with higher histologic and nuclear grades. However, Foxp3+ Tregs were decreased in the T3 and T4 TNBCs as compared to that of the T1 and T2 TNBCs. No significant differences were found for the nodal status, lymphovascular invasion, stage, recurrence and overall survival. CONCLUSIONS: High Foxp3+ Treg infiltration in TNBC is correlated with the nuclear and histologic grades, but there was no relation to recurrence and overall survival.
Breast ; Breast Neoplasms ; Estrogens ; Forkhead Transcription Factors ; Humans ; Immune Tolerance ; Immunohistochemistry ; Lymphocytes ; Lymphocytes, Tumor-Infiltrating ; Receptor, Epidermal Growth Factor ; Receptor, erbB-2 ; Receptors, Progesterone ; Recurrence ; T-Lymphocytes, Regulatory

BACKGROUND: The Korean Bone and Soft Tissue Pathology Study Group of the Korean Society of Pathologists conducted a nationwide retrospective analysis of soft tissue sarcoma (STS) to provide the clinicopathologic characteristics of STS within the population of the Republic of Korea. METHODS: The cases of STS were collected during a 7-year period (2001-2007) from 19 institutes in Korea. All cases were classified according to the histologic criteria proposed by the World Health Organization. Clinicopathologic data were reviewed. RESULTS: Data from 722 patients (median age, 50 years) were collected. Data showed a slight male predominance. The most frequent types of STS in decreasing order were liposarcoma, malignant fibrous histiocytoma, leiomyosarcoma, and synovial sarcoma. STS occurred throughout the body, although approximately half (47.8%) were located in the extremities. The majority of STS was histologically classified as high grade with a large tumor size (>5 cm). The overall survival rate for the patients was 76.3% (median follow-up time, 26 months; range, 1 to 89 months). Histologic grade, tumor size, American Joint Committee on Cancer stage, tumor site, and resection status were prognostic. Significant independent adverse prognostic factors were large tumor size (>5 cm) and tumor site other than extremities. CONCLUSIONS: We reported the distribution and characteristics of STS in the Republic of Korea.
Academies and Institutes ; Extremities ; Follow-Up Studies ; Histiocytoma, Malignant Fibrous ; Humans ; Incidence ; Joints ; Korea ; Leiomyosarcoma ; Liposarcoma ; Male ; Prognosis ; Republic of Korea ; Retrospective Studies ; Sarcoma ; Sarcoma, Synovial ; Survival Rate ; World Health Organization

Myofibrillar myopathies (MFMs) are a genetically or clinically heterogeneous group of diseases that are characterized by focal myofibrillar dissolution associated with accumulation of myofibrillar degradation products and ectopic expression of multiple proteins. Since MFMs show morphologically distinct features but consist of genetically and clinically heterogeneous diseases, muscle biopsy is important for the diagnosis. A 20-year-old man complained of progressive weakness and atrophy of both legs for two years. He had a dysmorphic face and short stature. The light microscopic examination of his muscle biopsy showed mixed myopathic and neurogenic changes. Many myofibers with multiple clusters of blue red rod-like structures and cytoplasmic inclusions were noted. Immunohistochemistry showed a focal positive reaction in sarcoplasm to desmin and myotilin antibodies. An electron microscope study revealed variable abnormalities of myofibrillar structures. To the best of our knowledge, this is the first reported case of MFM with pathology findings in Korea.
Antibodies ; Atrophy ; Biopsy ; Desmin ; Electrons ; Humans ; Immunohistochemistry ; Inclusion Bodies ; Korea ; Leg ; Light ; Muscles ; Muscular Diseases ; Proteins ; Young Adult

BACKGROUND: This study was done to see if there were correlations between anatomic and molecular parameters such as microvessel density (MVD), lymphatic vessel density (LVD), and vascular endothelial growth factor receptor (VEGFR)-3 expression and various clinical parameters for papillary thyroid carcinomas of size > 1.0 cm (PTCs) and size < or = 1.0 cm (papillary thyroid microcarcinomas, PTMCs). PTMCs were divided into two subgroups (0-5 mm and 6-10 mm). METHODS: We analyzed 197 thyroid carcinomas including 113 PTCs and 84 PTMCs. Tissue samples form 30 patients from each group matched for clinical characteristics were selected for immunostaining. RESULTS: Although PTCs and PTMCs showed significant differences in clinical characteristics, they did not show significant difference in MVD, LVD, or VEGFR-3 expression. There was a significantly higher LVD in the PTMC subgroup with the larger tumors but no difference in clinical characteristics. LVD was higher in patients > 45 years old (more apparent in the PTC group) and LVD had suggestive correlations with multicentricity and extrathyroidal extension depending on analytic conditions. CONCLUSIONS: Since LVD showed variable correlations with clinical variables for papillary carcinoma of the thyroid depending on analytic conditions, the individually planned treatments based on overall clinicopathological factors are advised.
Carcinoma ; Carcinoma, Papillary ; Factor IX ; Glycosaminoglycans ; Humans ; Lymphangiogenesis ; Lymphatic Vessels ; Microvessels ; Neovascularization, Pathologic ; Receptors, Vascular Endothelial Growth Factor ; Thyroid Gland ; Thyroid Neoplasms ; Vascular Endothelial Growth Factor Receptor-3