A giant cell tumor of bone is a benign bone tumor, but has very high local recurrence rate and, very rarely metastasizes to the lung or a distant area. We report a case of a 29-year-old male patient presenting with a metastatic giant cell tumor of the soft tissue of the chest wall, who underwent a total resection of the radius for recurrence of the giant cell tumor. The tumor was not related to any bony structure of the thorax. We resected the tumor with a wide surgical margin. No evidence of malignancy was seen in the frozen and permanent pathological report.
Adult ; Giant Cell Tumor of Bone ; Giant Cell Tumors* ; Giant Cells* ; Humans ; Lung ; Male ; Radius ; Recurrence ; Thoracic Wall* ; Thorax

Glomerulonephritis associated with malignancy is deemed to be paraneoplastic glomerulonephritis. Myelodysplastic syndrome (MDS) is a group of heterogeneous clonal hematopoietic stem cell disorders characterized by impaired hematopoietic cell differentiation and cytopenia. The pathophysiology of MDS is thought to be immune-mediated in part. A few reports have documented various forms of glomerulonephritis in patients with MDS and suggested that immune dysregulation is important in the development of paraneoplastic glomerulonephritis. Here, we report a patient with MDS and refractory anemia with excess blast-2 accompanied by minimal change nephrotic syndrome. The patient was treated with prednisolone, and the nephrotic-range proteinuria and pancytopenia improved markedly.
Anemia, Refractory ; Cell Differentiation ; Glomerulonephritis ; Hematopoietic Stem Cells ; Humans ; Myelodysplastic Syndromes* ; Nephrosis, Lipoid* ; Nephrotic Syndrome ; Pancytopenia ; Prednisolone ; Proteinuria ; Steroids

The aim of this study was to determine the normal value of brachial-ankle pulse wave velocity (baPWV) and carotid-femoral pulse wave velocity (cfPWV) according to age group, gender, and the presence of cardiovascular risk factors in healthy Koreans, and to investigate the association between PWV and risk factors such as prehypertension, dyslipidemia, smoking, and obesity. We measured an arterial stiffness in 110 normal subjects who were 20 to 69 yr-old with no evidence of cardiovascular disease, cerebrovascular accident or diabetes mellitus. The mean values of baPWV and cfPWV were 12.6 (+/-2.27) m/sec (13.1+/-1.85 in men, 12.1+/-2.51 in women; P=0.019) and 8.70 (+/-1.99) m/sec (9.34+/-2.13 in men, 8.15+/-1.69 in women; P=0.001), respectively. The distribution of baPWV (P<0.001) and cfPWV (P=0.006) by age group and gender showed an increase in the mean value with age. Men had higher baPWV and cfPWV than women (P<0.001). There was a difference in baPWV and cfPWV by age group on prehypertension, dyslipidemia, current smoking, or obesity (P<0.001). In multiple linear regression, age and prehypertension were highly associated with baPWV and cfPWV after adjustment for confounding factors (P<0.001). The present study showed that baPWV and cfPWV are associated with age, gender, and prehypertension in healthy Koreans.
Adult ; Age Factors ; Aged ; *Ankle Brachial Index ; Blood Pressure ; Brachial Artery/*physiology ; Cardiovascular Diseases/diagnosis/etiology/physiopathology ; Carotid Arteries/*physiology ; Female ; Femoral Artery/*physiology ; Humans ; Male ; Middle Aged ; Obesity/physiopathology ; Prehypertension/physiopathology ; Pulsatile Flow ; *Pulse Wave Analysis ; Republic of Korea ; Risk Factors ; Sex Factors ; Smoking ; Vascular Stiffness/physiology

Down syndrome critical region 1 (DSCR1), an oxidative stress-response gene, interacts with calcineurin and represses its phosphatase activity. Recently it was shown that hydrogen peroxide inactivates calcineurin by proteolytic cleavage. Based on these facts, we investigated whether oxidative stress affects DSCR1-mediated inactivation of calcineurin. We determined that overexpression of DSCR1 leads to increased proteolytic cleavage of calcineurin. Convertsely, knockdown of DSCR1 abolished calcineurin cleavage upon treatment with hydrogen peroxide. The PXIIXT motif in the COOH-terminus of DSCR1 is responsible for both binding and cleavage of calcineurin. The knockdown of overexpressed DSCR1 in DS fibroblast cells also abrogated calcineurin proteolysis by hydrogen peroxide. These results suggest that DSCR1 has the ability to inactivate calcineurin by inducing proteolytic cleavage of calcineurin upon oxidative stress.
Adenoviridae/genetics ; Adult ; Animals ; Calcineurin/antagonists & inhibitors/*metabolism ; Cells, Cultured ; Chromatin Immunoprecipitation ; Down Syndrome/*metabolism/pathology ; Fibroblasts/metabolism/pathology ; Humans ; Hydrogen Peroxide/pharmacology ; Immunoglobulin G/immunology ; Intracellular Signaling Peptides and Proteins/*physiology ; Male ; Mice ; Mice, Inbred ICR ; Muscle Proteins/*physiology ; Neuroblastoma/genetics/metabolism/pathology ; Neurons/cytology/metabolism ; Oxidants/pharmacology ; Oxidative Stress ; Peptide Fragments/immunology ; RNA, Messenger/genetics/metabolism ; RNA, Small Interfering/pharmacology ; Rabbits ; Reverse Transcriptase Polymerase Chain Reaction ; Skin/pathology ; Young Adult

OBJECTIVE: To evaluate the correlation of the expression of E-cadherin, alpha-catenin, beta-catenin and the clinicopathological features in endometrial cancer (EC) and atypical complex endometrial hyperplasia (ACEH). METHODS: Immunohistochemical (IHC) staining of E-cadherin, alpha-catenin, beta-catenin was performed in tissues of 6 ACEHs, 44 endometrioid ECs. We analyzed the correlation of the expression of IHC staining with the prognostic factors according to tumor stage of ACEH and EC, histopathologic grade, and myometrial invasion. RESULTS: According to tumor stage, reduced E-cadherin expression and abnormal alpha-catenin expression were observed more frequently in advanced stage (reduced E-cadherin: ACEH 0%, stage I-II 47.2%, stage III-IV 62.5%, p=0.050; abnormal alpha-catenin: ACEH 0%, stage I-II 27.8%, stage III-IV 62.5%, p=0.035). All of the IHC staining showed no correlation with the depth of myometrial invasion but showed correlation with presence of myometrial invasion (reduced E-cadherin: invasion(-) 14.3%, invasion(+) 66.7%, p =0.001; abnormal alpha-catenin: invasion(-) 7.1%, invasion (+) 46.0%, p=0.010; abnormal beta-catenin: invasion(-) 7.1%, invasion(+) 63.0%, p=0.000). According to histological differentiation only abnormal beta-catenin expression shows relationship with histopathologic grade (grade 1:23.1%, grade 2:60%, grade 3:62.5%, p=0.039). CONCLUSION: Expression of E-cadherin and alpha-catenin showed significantly more reduced expression in EC than in ACEH, and more reduced expression in advanced stage, myometrial invasion and high histopathologic grade. And alpha-catenin showed more frequent abnormal expression in advanced stage, myometrial invasion and beta-catenin showed more frequent in myometrial invasion, high histopathologic grade significantly. These results suggests that the expression of E-cadherin and alpha-catenin, beta-catenin in EC and ACEH could be related to prognosis of the tumor.
alpha Catenin ; beta Catenin ; Cadherins* ; Endometrial Hyperplasia* ; Endometrial Neoplasms* ; Female ; Prognosis

Motor neuron disease (MND) and frontotemporal dementia often appear together. We report on a 74-year-old woman who presented with a 18-month history of memory deterioration and MND. Her initial clinical diagnosis was probable Alzheimer's disease (AD) coexisting with MND. We conducted 11C-labeled Pittsburgh Compound-B positron-emission tomography (11C-PIB PET) to discriminate AD from other degenerative dementia, the results from which were negative for amyloid deposition.
Aged ; Alzheimer Disease ; Amyloid ; Dementia ; Female ; Frontotemporal Dementia ; Humans ; Memory ; Motor Neuron Disease ; Motor Neurons ; Positron-Emission Tomography

No abstract available.
Antley-Bixler Syndrome Phenotype*

5 alpha-reductase deficiency is a rare autosomal recessive disorder caused by mutations in the SRD5A2-gene, resulting in absent or diminished dihydrotestosterone (DHT) formation and, hence, in an underdevelopment of the external genitalia in patients with 46,XY karyotype. Recently we experienced a 17 years old patient with chief complaint of primary amenorrhea, who showed 46,XY karyotype, enlarged clitoris, virilization, undeveloped breast and palpable bilateral inguinal mass. We diagnosed it as 5 alpha?reductase deficiency and removed the bilateral gonads, so we report it with brief review of literature.
46, XY Disorders of Sex Development ; Adolescent ; Amenorrhea ; Breast ; Cholestenone 5 alpha-Reductase* ; Clitoris ; Dihydrotestosterone ; Female ; Genitalia ; Gonads ; Humans ; Karyotype ; Virilism

We report a case of tubulointerstitial nephritis and uveitis (TINU) syndrome in an old age female. A 66-year-old woman presented with nonspecific systemic symptoms and severe renal dysfunction. Renal biopsy showed acute interstitial nephritis and ophthalmologic examination revealed bilateral panuveitis. Evaluations for connective tissue diseases and infectious diseases were negative. She was treated with total eight sessions of hemodialysis, oral steroids and topical steroids. Renal function had improved significantly and remained stable at follow-up, although it did not fully recovered yet. TINU syndrome should be considered in cases of unexplained tubulointerstitial nephritis, especially in the presence of ocular symptom.
Acute Kidney Injury ; Aged ; Biopsy ; Communicable Diseases ; Connective Tissue Diseases ; Female ; Follow-Up Studies ; Humans ; Nephritis, Interstitial ; Panuveitis ; Renal Dialysis ; Steroids ; Uveitis

Chromatin structure has a crucial role in a diversity of physiological processes, including development, differentiation and stress responses, via regulation of transcription, DNA replication and DNA damage repair. Histone deacetylase (HDAC) inhibitors regulate chromatin structure and activate the DNA damage checkpoint pathway involving Ataxia-telangiectasia mutated (ATM). Herein, we investigated the impact of histone acetylation/deacetylation modification on the ATM-mediated transcriptional modulation to provide a better understanding of the transcriptional function of ATM. The prototype HDAC inhibitor trichostain A (TSA) reprograms expression of the myeloid cell leukemia-1 (MCL1) and Gadd45alpha genes via the ATM-mediated signal pathway. Transcription of MCL1 and Gadd45alpha is enhanced following TSA treatment in ATM+ cells, but not in isogenic ATM- or kinase-dead ATM expressing cells, in the ATM-activated E2F1 or BRCA1-dependent manner, respectively. These findings suggest that ATM and its kinase activity are essential for the TSA-induced regulation of gene expression. In summary, ATM controls the transcriptional upregulation of MCL1 and Gadd45alpha through the activation of the ATM-mediated signal pathway in response to HDAC inhibition. These findings are important in helping to design combinatory treatment schedules for anticancer radio- or chemo-therapy with HDAC inhibitors.
Cell Cycle Proteins/genetics/*metabolism ; DNA Damage/*genetics ; DNA-Binding Proteins/*metabolism ; E2F1 Transcription Factor/metabolism ; Gene Expression Regulation/drug effects ; Histone Deacetylase Inhibitors/*pharmacology ; Histone Deacetylases/*metabolism ; Humans ; Hydroxamic Acids/pharmacology ; Nuclear Proteins/genetics/metabolism ; Promoter Regions, Genetic/genetics ; Protein Binding/drug effects ; Protein-Serine-Threonine Kinases/*metabolism ; Proto-Oncogene Proteins c-bcl-2/genetics/metabolism ; RNA, Messenger/genetics/metabolism ; *Transcription, Genetic/drug effects ; Tumor Suppressor Proteins/*metabolism