Next-generation sequencing (NGS) technologies have changed the process of genetic diagnosis from a gene-by-gene approach to syndrome-based diagnostic gene panel sequencing (DPS), diagnostic exome sequencing (DES), and diagnostic genome sequencing (DGS). A priori information on the causative genes that might underlie a genetic condition is a prerequisite for genetic diagnosis before conducting clinical NGS tests. Theoretically, DPS, DES, and DGS do not require any information on specific candidate genes. Therefore, clinical NGS tests sometimes detect disease-related pathogenic variants in genes underlying different conditions from the initial diagnosis. These clinical NGS tests are expensive, but they can be a cost-effective approach for the rapid diagnosis of rare disorders with genetic heterogeneity, such as the glycogen storage disease, familial intrahepatic cholestasis, lysosomal storage disease, and primary immunodeficiency. In addition, DES or DGS may find novel genes that that were previously not linked to human diseases.

Next-generation sequencing (NGS) technologies have changed the process of genetic diagnosis from a gene-by-gene approach to syndrome-based diagnostic gene panel sequencing (DPS), diagnostic exome sequencing (DES), and diagnostic genome sequencing (DGS). A priori information on the causative genes that might underlie a genetic condition is a prerequisite for genetic diagnosis before conducting clinical NGS tests. Theoretically, DPS, DES, and DGS do not require any information on specific candidate genes. Therefore, clinical NGS tests sometimes detect disease-related pathogenic variants in genes underlying different conditions from the initial diagnosis. These clinical NGS tests are expensive, but they can be a cost-effective approach for the rapid diagnosis of rare disorders with genetic heterogeneity, such as the glycogen storage disease, familial intrahepatic cholestasis, lysosomal storage disease, and primary immunodeficiency. In addition, DES or DGS may find novel genes that that were previously not linked to human diseases.

BACKGROUND: Several studies have demonstrated that quantitation of hepatitis B virus (HBV) DNA in sera of HBsAg-positive patients is more useful test for the assessment of infectivity and for the evaluation of disease status than previously utilized numerous serological markers and qualitative polymerase chain reaction for the detection of HBV DNA. We tried to measure serum HBV DNA using a branched DNA (bDNA) signal amplification assay, which is recently introduced and known to be a simple and nonradioisotopic method. METHODS: Total forty patients with HBsAg were randomly selected and serum HBV DNA was measured with duplication using bDNA signal amplification assay (QUANTIPLEXTM HBV DNA ASSAY, Chiron, USA). Quantitation was determined from a standard curve and expressed as HBV DNA equivalents/mL (Eq/mL; 1 Eq = 1 molecule of the primary HBV DNA standard). Serum HBeAg, aspartate aminotransferase (AST), alanine aminotransferase (ALT) , and soluble interleukin-2 receptor (sIL-2R) were compared with HBV DNA. RESULTS: Serum HBV DNA was quantitated in 13 patients (32.5%) (range 6.4x106-7.4x109 Eq/mL, mean 1.8x109 Eq/mL, CV 8.1%). All eleven patients (100%) with both HBsAg and HBeAg an4 2 of 29 patients (6.9%) with HBsAg but not with HBeAg showed measurable HBV DNA (p < 0.001). In addition, serum levels of AST, ALT, and sIL-2R were significantly higher in HBV DNA measured patients compared with those of unmeasured patients. CONCLUSIONS: Above results show that more than half the HBsAg-positive patients do not have enough HBV DNA which is measurable with boNA signal amplification assay but all of HBeAg-positive patients and some of HBeAg-negative patients do. In addition, HBV DNA quantitation might be correlated with the disease activity in HBsAg-positive patients because serum levels of AST, ALT, and sIL-2R are higher in patients measured with HBV DNA than unmeasured.
Alanine Transaminase ; Aspartate Aminotransferases ; Branched DNA Signal Amplification Assay* ; DNA ; Hepatitis B e Antigens ; Hepatitis B Surface Antigens ; Hepatitis B virus* ; Hepatitis B* ; Hepatitis* ; Humans ; Interleukin-2 ; Polymerase Chain Reaction

BACKGROUND: T cell mediated immune destruction is an important mechanism of liver injury in patients with chronic hepatitis C. Serum levels of soluble interleukin-2 receptor(sIL-2R) seem to serve as a marker for the T cell activation and progressive liver injury, This study examined serum levels of sIft-2R and hepatitis C virus (HCV) RNA in patients with chronic HCV infection to determine the correlation with the severity of chronic hepatocellular damage. METHODS: Serum levels of sIft-2R in 73 patients with HCV infection (chronic hepatitis 52, liver cirrhosis 9, hepatocellular carcinoma 12) and 40 healthy controls were measured by sandwich enzyme immunoassay (CELLFREE, T Cell Sciences, USA). HCV RNA was quantified by QUANTIPLEX(TM) HCV RNA 2.0 assay (Chiron, USA) with duplication. This assay is a sandwich nucleic acid hybridization procedure using branched DNA amplification for the quantitation of HCV RNA. RESULTS: The sIL-2R levels of 52 patients with chronic hepatitis (591.4+/-238.7U/mL), 9 with liver cirrhosis(949.4+/-721.9 U/mL), and 12 with hepatocellular carcinoma (1,167.4+/- 554.4 U/mL) were significantly higher than those of healthy controls(370.8+/-71.8 U/mL) (p<0.001). A progressive and significant increase occurred in sIL-2R levels with chronic hepatitis C, liver cirrhosis and hepatocellular carcinoma (HCC) in order (p(0.001). The HCV RNA was detected in all patients and the means of HCV viral load were 3.3 MEq/mL in chronic hepatitis, 2.8 MEq/mL in cirrhosis, and 3.7 MEq/mL in HCC. There was no significant correlation between HCV RNA and the severity of liver injury in chronic HCV infection. There were no correlations among sIL-2R, HCV RNA and serum ALT. CONCLUSIONS: These results suggest that chronic hepatocellular injury by HCV progress mainly by T cell mediated immune response, not by direct cytopathic injury. Also, sIL-2R can be useful as a marker in monitoring the patients with HCV infection at high risk of getting HCC.
Carcinoma, Hepatocellular ; DNA ; Fibrosis ; Hepacivirus* ; Hepatitis C* ; Hepatitis C, Chronic* ; Hepatitis* ; Hepatitis, Chronic* ; Humans ; Immunoenzyme Techniques ; Interleukin-2* ; Liver ; Liver Cirrhosis ; Nucleic Acid Hybridization ; RNA ; Viral Load

BACKGROUND: T cell mediated immune destruction is an important mechanism of liver injury in patients with chronic hepatitis C. Serum levels of soluble interleukin-2 receptor(sIL-2R) seem to serve as a marker for the T cell activation and progressive liver injury, This study examined serum levels of sIft-2R and hepatitis C virus (HCV) RNA in patients with chronic HCV infection to determine the correlation with the severity of chronic hepatocellular damage. METHODS: Serum levels of sIft-2R in 73 patients with HCV infection (chronic hepatitis 52, liver cirrhosis 9, hepatocellular carcinoma 12) and 40 healthy controls were measured by sandwich enzyme immunoassay (CELLFREE, T Cell Sciences, USA). HCV RNA was quantified by QUANTIPLEX(TM) HCV RNA 2.0 assay (Chiron, USA) with duplication. This assay is a sandwich nucleic acid hybridization procedure using branched DNA amplification for the quantitation of HCV RNA. RESULTS: The sIL-2R levels of 52 patients with chronic hepatitis (591.4+/-238.7U/mL), 9 with liver cirrhosis(949.4+/-721.9 U/mL), and 12 with hepatocellular carcinoma (1,167.4+/- 554.4 U/mL) were significantly higher than those of healthy controls(370.8+/-71.8 U/mL) (p<0.001). A progressive and significant increase occurred in sIL-2R levels with chronic hepatitis C, liver cirrhosis and hepatocellular carcinoma (HCC) in order (p(0.001). The HCV RNA was detected in all patients and the means of HCV viral load were 3.3 MEq/mL in chronic hepatitis, 2.8 MEq/mL in cirrhosis, and 3.7 MEq/mL in HCC. There was no significant correlation between HCV RNA and the severity of liver injury in chronic HCV infection. There were no correlations among sIL-2R, HCV RNA and serum ALT. CONCLUSIONS: These results suggest that chronic hepatocellular injury by HCV progress mainly by T cell mediated immune response, not by direct cytopathic injury. Also, sIL-2R can be useful as a marker in monitoring the patients with HCV infection at high risk of getting HCC.
Carcinoma, Hepatocellular ; DNA ; Fibrosis ; Hepacivirus* ; Hepatitis C* ; Hepatitis C, Chronic* ; Hepatitis* ; Hepatitis, Chronic* ; Humans ; Immunoenzyme Techniques ; Interleukin-2* ; Liver ; Liver Cirrhosis ; Nucleic Acid Hybridization ; RNA ; Viral Load

We performed 75 cases of daryocystorhinostomy from Jan. 1988 to Dec. 1990. A routine dacryocystography was performed prior to operation in all cases. A modified T oti's method was applied as a surgical technique "H" shaped incision was done. Both anterior and posterior flaps were sutured adequately and vaseline guaze was used as a plugging agent for 7 to 10 days Success was achieved in 72(96.0%) of 75 cases. The causes of 3-failures were organized granulation tissue and trauma.

Sepsis refers to the systemic response to serious infection. Patients with sepsis usually manifest fever, tachycardia, tachypnea, leukocytosis, and a localized site of infection. Methicillin-resistant Staphylococcus aureus(MRSA) is a gram-positive, nonmotile, aerobic, catalase- positive coccus, which is resistant to all the B -lactam antibiotics. Cutaneous manifestations in sepsis are maculopapules, nodules, petechiae, ecchymoses, purpurae, pustules, vesiculobullae, hemorrhagic bullae and ulcers. When MRSA is identified in blood cultures and skin tissue cultures, the skin lesions can be considered as cutaneous manifestations in sepsis caused by MRSA. We report two cases with erythematous pustules, petechiae, hemorrhagic bullae and maculopapules caused by MRSA sepsis. MRSA grew in blood cultures and skin tissue cultures.
Anti-Bacterial Agents ; Ecchymosis ; Fever ; Humans ; Leukocytosis ; Methicillin Resistance* ; Methicillin-Resistant Staphylococcus aureus* ; Purpura ; Sepsis* ; Skin ; Staphylococcus ; Tachycardia ; Tachypnea ; Ulcer

A 38-year-old male patient visited our clinic complaining of three skin lesions on the scalp. There were yellowish to brownish, waxy, non-tender, walnut-sized nodules. Hematoxylin and eosin staining revealed amorphous pinkish material deposits in the dermis. The Congo red stain and Dylon stain under polarizing microscopy showed yellow-green birefringence and the immunoglobulin-lambda light chain stain showed a positive reaction. An electron microscopic examination revealed filaments with uniform diameter(6 to 10nm) that were straight and neither branched nor anastomosed. Based on the clinical, histopathological, immunohistochemical and electron microscopical findings, the skin lesions were diagnosed as nodular amyloidosis.
Adult ; Amyloidosis* ; Birefringence ; Congo Red ; Dermis ; Eosine Yellowish-(YS) ; Hematoxylin ; Humans ; Male ; Microscopy ; Scalp ; Skin

This erratum is being published to revise the website address of the Korean Reference Genome Database (KRGDB) and correct two typographical errors in the article.