BACKGROUND: Mitochondrial DNA (mtDNA) mutations may regulate the progression and chemosensitivity of leukemia. Few studies regarding mitochondrial aberrations and haplogroups in acute myeloid leukemia (AML) and their clinical impacts have been reported. Therefore, we focused on the mtDNA length heteroplasmies minisatellite instability (MSI), copy number alterations, and distribution of mitochondrial haplogroups in Korean patients with AML. METHODS: This study investigated 74 adult patients with AML and 70 controls to evaluate mtDNA sequence alterations, MSI, mtDNA copy number, haplogroups, and their clinical implications. The hypervariable (HV) control regions (HV1 and HV2), tRNA(leu1)gene, and cytochrome b gene of mtDNA were analyzed. Two mtDNA minisatellite markers, 16189 poly-C (¹⁶¹⁸⁴CCCCCTCCCC¹⁶¹⁹³, 5CT4C) and 303 poly-C (³⁰³CCCCCCCTCCCCC³¹⁵, 7CT5C), were used to examine the mtDNA MSI. RESULTS: In AML, most mtDNA sequence variants were single nucleotide substitutions, but there were no significant differences compared to those in controls. The number of mtMSI patterns increased in AML. The mean mtDNA copy number of AML patients increased approximately 9-fold compared to that of controls (P < 0.0001). Haplogroup D4 was found in AML with a higher frequency compared to that in controls (31.0% vs. 15.7%, P=0.046). None of the aforementioned factors showed significant impacts on the outcomes. CONCLUSION: AML cells disclosed more heterogeneous patterns with the mtMSI markers and had increased mtDNA copy numbers. These findings implicate mitochondrial genome instability in primary AML cells. Therefore, mtDNA haplogroup D4 might be associated with AML risk among Koreans.
Adult ; Cytochromes b ; DNA, Mitochondrial ; Genome, Mitochondrial* ; Humans ; Leukemia ; Leukemia, Myeloid, Acute* ; Minisatellite Repeats

Anastomotic leakage following rectal resection is a serious and fearful complication, and may cause presacral abscess and/or peritonitis. To our knowledge, massive hematochezia secondary to presacral abscess caused by anastomotic leakage has not yet been reported in the literature. We observed this rare and life-threatening complication in three patients who were successfully treated with a simple but effective transanal gauze packing technique.
Abscess* ; Anastomotic Leak* ; Gastrointestinal Hemorrhage ; Hemorrhage* ; Humans ; Peritonitis

PURPOSE: Dickkopf-1 (DKK-1) is a Wnt/beta-catenin signaling pathway inhibitor. We investigated whether DKK-1 is related to progression in hepatocellular carcinoma (HCC) cells and HCC patients. MATERIALS AND METHODS: In vitro reverse-transcription polymerase chain reaction (RT-PCR), wound healing assays, invasion assays, and ELISAs of patient serum samples were employed. The diagnostic accuracy of the serum DKK-1 ELISA was assessed using receiver operating characteristic (ROC) curves and area under ROC (AUC) analyses. RESULTS: RT-PCR showed high DKK-1 expression in Hep3B and low in 293 cells. Similarly, the secreted DKK-1 concentration in the culture media was high in Hep3B and low in 293 cells. Wound healing and invasion assays using 293, Huh7, and Hep3B cells showed that DKK-1 overexpression promoted cell migration and invasion, whereas DKK-1 knock-down inhibited them. When serum DKK-1 levels were assessed in 370 participants (217 with HCC and 153 without), it was significantly higher in HCC patients than in control groups (median 1.48 ng/mL vs. 0.90 ng/mL, p<0.001). The optimum DKK-1 cutoff level was 1.01 ng/mL (AUC=0.829; sensitivity 90.7%; specificity 62.0%). Although DKK-1 had a higher AUC than alpha-fetoprotein (AFP) and des-gamma-carboxy prothrombin (DCP) (AUC=0.829 vs. 0.794 and 0.815, respectively), they were statistically similar (all p>0.05). When three biomarkers were combined (DKK-1 plus AFP plus DCP), they showed significantly higher AUC (AUC=0.952) than single marker, DKK-1 plus AFP, or DKK-1 plus DCP (all p<0.001). CONCLUSION: DKK-1 might be a key regulator in HCC progression and a potential therapeutic target in HCC. Serum DKK-1 could complement the diagnostic accuracy of AFP and DCP.
Area Under Curve ; Biomarkers/blood/metabolism ; Biomarkers, Tumor/blood ; Carcinoma, Hepatocellular/blood/*diagnosis ; Enzyme-Linked Immunosorbent Assay ; Female ; Humans ; Intercellular Signaling Peptides and Proteins/*blood/*metabolism ; Liver Neoplasms/blood/*diagnosis ; Male ; Middle Aged ; Protein Precursors/blood/metabolism ; Prothrombin/metabolism ; ROC Curve ; Reverse Transcriptase Polymerase Chain Reaction/*methods ; Sensitivity and Specificity ; alpha-Fetoproteins/analysis/metabolism

Eccrine porocarcinoma is a rare cutaneous neoplasm arising from the eccrine sweat duct. It may arise de novo or evolve from a pre-existing poroma or hidroacanthoma simplex. The pigmented variant of porocarcinoma is very rare, and its heavy pigmentation can lead to misdiagnosis of seborrheic keratosis or melanoma. An 82-year-old male patient presented with a painful, brown-to-black colored plaque measuring 4x4.5 cm with a central pedunculated nodule that measured 2.5x2 cm on his right posterior thigh. A small, pigmented papule had developed 10 years prior and had gradually increased in size. Histopathologic examination of the nodule revealed lobulated tumor islands composed of atypical basaloid cells in the periphery, eosinophilic squamous cells in the center, and pigmented dendritic cells scattered throughout nests of the tumor. Carcinoembryonic antigen and epithelial membrane antigen were expressed in the tumor cells and the dendritic cells stained positive for S-100 and HMB45. Histopathologic findings from the plaque showed many pigmented nests embedded within the epidermis that were composed of small, polygonal, pigmented basaloid cells. Pigmented eccrine porocarcinoma arising from pigmented hidroacanthoma simplex was diagnosed clinically and histopathologically. The tumor was completely excised. We report a case of pigmented porocarcinoma, which should be included among clinically important differential diagnoses apart from melanoma.
Aged, 80 and over ; Carcinoembryonic Antigen ; Dendritic Cells ; Diagnosis, Differential ; Diagnostic Errors ; Eccrine Porocarcinoma* ; Eosinophils ; Epidermis ; Humans ; Islands ; Keratosis, Seborrheic ; Male ; Melanoma ; Mucin-1 ; Pigmentation ; Poroma ; Sweat ; Thigh

BACKGROUND: Seborrheic dermatitis (SD) is a chronic, relapsing inflammatory disease, mainly affecting the scalp and face. The pathogenesis of SD has been not fully understood yet, but may be related to the skin colonization of Malassezia species, lipophilic yeasts. Phototherapy with light emitting diode (LED) device has been become a new therapeutic modality for some skin diseases such as acne. OBJECTIVE: To evaluate effectiveness and safety of phototherapy with home-use LED in the treatment of patients with SD of the scalp. METHODS: Eight patients with mild-to-moderate SD of the scalp participated. The patients used a home-use LED device combined 395 nm blue light with 660 nm red light for 6~7 min twice daily for 8 weeks. Patients' assessments were made by clinical findings including erythema (0~15), scales (0~15), itching (0~10), and lesional extent (0~15). And clinical photographs were taken at 0, 2, 4 and 8 weeks, respectively. RESULTS: At 8 weeks after LED treatment, erythema (7.75 to 5.13, p=0.018), scales (7.38 to 4.13, p=0.017), itching (6 to 3, p=0.011) and lesional extent (8.25 to 5.25, p=0.017) were significantly decreased, respectively. Satisfactory scores were also relatively high (mean 8.13 of 10). No severe adverse reaction was reported, excepting hair dryness (n=1) and brief stinging sense (n=1). CONCLUSION: Home-use LED was effective and safe in the treatment of SD of the scalp. These results suggest the LED device might be an adjuvant therapeutic tool in the treatment of Malassezia species associated diseases such as dandruff and SD. Further long-term and large-scale studies are required to assess the efficacy and safety of home-use LED.
Acne Vulgaris ; Bites and Stings ; Colon ; Dandruff ; Dermatitis, Seborrheic* ; Erythema ; Hair ; Humans ; Malassezia ; Phototherapy ; Pruritus ; Scalp* ; Skin ; Skin Diseases ; Weights and Measures ; Yeasts

The usefulness of DNA databases is well known. In Korea, many cases have been solved since the establishment of DNA databases in 2010. DNA profiles obtained from criminal evidence are analyzed and are kept in databases, and matching profile is searched. On the matching occasion, DNA databases can provide some investigative information. Close family members, for example father, son or brother, share more alleles than unrelated people. This genetic closeness can be searched using the so called familial searching, and many successful cases have been reported. Management of DNA databases including familial searching needs continuous monitoring and control, especially from ethical view points. Many different views for familial searching have been presented, and each country running DNA databases has their own different policies. We present the utility, approaches and different policies of familial searching as well as arguments for and against familial searching. We also suggest that our appropriate guidelines be mandatory and a proper administrative process be prepared for the start of familial searching.
Alleles ; Criminals ; Databases, Nucleic Acid ; DNA ; Fathers ; Humans ; Korea ; Running ; Siblings

BACKGROUND: It is difficult to differentiate between tuberculous pneumonia and Community Acquired Pneumonia, so the diagnosis and treatment of tuberculous pneumonia can be delayed frequently. In this study, we attempted to retrospectively evaluate the clinical and radiologic characteristics of tuberculous pneumonia. METHODS: We conducted a retrospective analysis of clinical characteristics of 58 patients diagnosed with tuberculous pneumonia from Nov. 1997 to May 2001 at Korea university kuro hospital. RESULT: The male to female ratio was 1:1 and the mean age at diagnosis was 54.5+/-18.6 years. Fifty five patients were confirmed microbiologically and three patients pathologically. There were 20 patients(34.5%) who had diabetes mellitus(8cases), chronic obstructive pulmonary disease(3cases), malignancy(3cases), bronchiectasis(2cases), chronic renal failure(1cases) or long term history of corticosteroid treatment(3cases). Many patients had multilobar infiltration in chest X-ray, dominantly in the lower lobe. thirty two patients(55.2%) had infiltration in more than 2 lobes and 5 patients in more than 4 lobes. The significant correlation between the diabetes mellitus and the infiltrated Rt lower lobe(RLL) was found on the borders of confidence limit.(P=0.07<0.1). There was significant correlation between woman and infiltrated lobe(RML, RLL, LLL) excluding the both upper lobe(P=0.029). CONCLUSION: We must consider tuberculous pneumonia when lobar pneumonia with consolidation resistant to antibiotics, especially in the patients who have diabetes mellitus, chronic obstructive pulmonary disease, malignancy, bronchiectsis, chronic renal failure or long term history of corticosteroid treatment.
Anti-Bacterial Agents ; Diabetes Mellitus ; Diagnosis ; Female ; Humans ; Kidney Failure, Chronic ; Korea ; Male ; Pneumonia* ; Pulmonary Disease, Chronic Obstructive ; Retrospective Studies ; Thorax

We encountered one case of Chinese Herb Nephropathy in Korea. But clinical feature of our case was different from those of CHN in Belgium. The purpose of this case report was clarified the features of CHN in Asia. The subjects consisted of a patient diagnosed as interstitial nephritis in Hanyang University Hospital and of those reported in the literature in Asia and Belgium. We investigated the clinical and histological features of CHN patients in Asia and compared them with the Belgian cases. The remarkable differences were as follows; (1) relatively high prevalence in males compared with Belgian cases, (2) digestion with multiple object and mode in Asia, (3) Most of renal failure in Asia were improved or were in stable status. (4) Fanconi's syndrome was found in most cases of Asia. In conclusion, CHN in Asia has some characteristics distinguished from Belgian Chinese Hreb Nephropathy. These findings could indicate that susceptibility to aristolochic acid may be different among races. Furthermore, it is likely that different components of AA could cause different features, that the amount of ingested AA, mode in digestion, or interaction with other components except nephrotoxic agent such as AA might reflect clinical pictures. Other hypothesis may be some other toxic substances affecting the clinical findings although they are not identified at present. Further studies must be undertaken to clarify these differences.
Asia ; Asian Continental Ancestry Group* ; Belgium ; Continental Population Groups ; Digestion ; Humans ; Korea ; Male ; Nephritis, Interstitial ; Prevalence ; Renal Insufficiency

Collaborative work using same samples for the parentage testing, which was intended to see the status and the quality of several DNA typing laboratories in Korea, was described. Samples were consisted of two sets, one was a trio case and the other was a deficient case with two children. Samples were sent to six laboratories, among which five submitted the result. Each laboratory had used different number and set of STR loci using 14 - 23 loci, and total 33 different loci were used. Only one VNTR locus, D1S80 was included and all the remaining were STR loci. The loci included in the commercial kits were used more frequently. One laboratory had used Korean-made commercial kits. All the laboratories gave the same results about the parentage, although results for one locus were not the same through different laboratories. There existed minor difference in the PI calculation, especially in the statistical parameters such as allelic frequences, which might gave confusion to users of the results who were not familiar with the test. Necessity about the standardization and profiling data were discussed.
Academies and Institutes* ; Child ; DNA Fingerprinting ; Humans ; Korea* ; Minisatellite Repeats

PURPOSE: This study was conducted to compared unenhanced helical computerized tomography (CT) with intravenous urography (IVU) in the evaluation of acute flank pain. MATERIALS AND MTHODS: Between April 2000 and April 2001, 59 patients with acute flank pain suspected of having urolithiasis underwent an unenhanced helical CT followed by an IVU. Two independent consultation urologic radiologists randomly assessed these patients for the presence, size and location of the calculus, ureteral dilatation and secondary sign of a ureteral obstruction. Of the 59 patients, 45 had a calculus confirmed on removal or a documented passage of a stone. The absence of a calculus was based on a clinical and radiological follow up with clinical resolution. RESULTS: CT revealed all 62 calculi from 45 patients and no calculus in 14 of the patients with a 98.4% sensitivity and a 100% specificity. IVU demonstrated 36 calculi from 35 patients and no calculus in 14 of the patients with a 57.1% sensitivity and a 100% specificity. Both CT and IVU demonstrated the secondary signs of a ureteral obstruction in 34 and 31 patients, respectively. The cost of the helical CT was 4-5 times higher than that of the IVU. CONCLUSIONS: Unenhanced helical CT is an accurate, safe, and a rapid technique for assessing acute flank pain and evaluate the choice for patients who would otherwise require a IVU for diagnosis but with a lower cost.
Calculi ; Diagnosis ; Dilatation ; Flank Pain* ; Follow-Up Studies ; Humans ; Sensitivity and Specificity ; Tomography, Spiral Computed ; Ureteral Calculi ; Ureteral Obstruction ; Urography* ; Urolithiasis