Artifacts ; Blood Buffy Coat ; Gene Frequency ; Hematologic Tests ; High-Throughput Nucleotide Sequencing ; Humans ; Mass Screening ; Ovarian Neoplasms ; Sensitivity and Specificity ; Tissue Preservation

Objective: A simultaneous detection of germline and somatic mutations in ovarian cancer (OC) using tumor materials is considered to be cost-effective for BRCA1/2 testing. However, there are limited studies of the analytical performances according to various sample types. The aim of this study is to propose a strategy for routine BRCA1/2 next-generation sequencing (NGS) screening based on analytical performance according to different sample types. Methods: We compared BRCA1/2 NGS screening assay using buffy coat, fresh-frozen (FF) and formalin-fixed paraffin-embedded (FFPE) from 130 samples. Results: The rate of repeated tests in a total of buffy coat, FF and FFPE was 0%, 8%, and 34%, respectively. The accuracy of BRCA1/2 NGS testing was 100.0%, 99.9% and 99.9% in buffy coat, FFPE and FF, respectively. However, due to the presence of variant allele frequency (VAF) shifted heterozygous variants, tumor materials (FFPE and FF) showed lower sensitivity (95.5%–99.0%) than buffy coat (100%). Furthermore, FFPE showed 51.4% of the positive predictive value (PPV) on account of sequence artifacts. When performed in the post-filtration process, PPV was increased by approximately 20% in FFPE. Buffy coat showed 100% of sensitivity, specificity and accuracy in BRCA1/2 NGS test. Conclusions On the comparison of the analytical performance according to different sample types, the buffy coat was not affected by sequencing artifacts and VAF shifted variants. Therefore, the blood test should be given priority in detecting germline BRCA1/2 mutation, and tumor materials could be suitable to detect somatic mutations in OC patients without identifying germline BRCA1/2 mutation.

PURPOSE: The purpose of this study was to investigate the effect of hospital case volume on clinical outcomes in patients with nasopharyngeal carcinoma (NPC). MATERIALS AND METHODS: Data on 1,073 patients with cT1-4N0-3M0 NPC were collected from a multi-institutional retrospective database (KROG 11-06). All patients received definitive radiotherapy (RT) either with three-dimensional-conformal RT (3D-CRT) (n=576) or intensity-modulated RT (IMRT) (n=497). The patients were divided into two groups treated at high volume institution (HVI) (n=750) and low volume institution (LVI) (n=323), defined as patient volume ≥ 10 (median, 13; range, 10 to 18) and < 10 patients per year (median, 3; range, 2 to 6), respectively. Endpoints were overall survival (OS) and loco-regional progression-free survival (LRPFS). RESULTS: At a median follow-up of 56.7 months, the outcomes were significantly better in those treated at HVI than at LVI. For the 614 patients of propensity score-matched cohort, 5-year OS and LRPFS were consistently higher in the HVI group than in the LVI group (OS: 78.4% vs. 62.7%, p < 0.001; LRPFS: 86.2% vs. 65.8%, p < 0.001, respectively). According to RT modality, significant difference in 5-year OS was observed in patients receiving 3D-CRT (78.7% for HVI vs. 58.9% for LVI, p < 0.001) and not in those receiving IMRT (77.3% for HVI vs. 75.5% for LVI, p=0.170). CONCLUSION: A significant relationship was observed between HVI and LVI for the clinical outcomes of patients with NPC. However, the difference in outcome becomes insignificant in the IMRT era, probably due to the standardization of practice by education.
Cohort Studies ; Disease-Free Survival ; Education ; Follow-Up Studies ; Humans ; Nasopharyngeal Neoplasms ; Radiotherapy ; Radiotherapy, Intensity-Modulated ; Retrospective Studies* ; Treatment Outcome

PURPOSE: Liver resection is considered the only curative treatment modality for colorectal liver metastasis. The recurrence rate after hepatectomy is >50%. Two or more hepatectomies are applied to treat recurred metastases. We assessed the efficiency and feasibility of repeat hepatectomy and analyzed the prognostic factors after a repeat hepatectomy. METHODS: In total, 248 patients were diagnosed with recurred liver metastasis between January 2003 and May 2016. Second and third hepatectomies were performed in 70 and 7 patients, respectively. The other 171 patients did not undergo a repeat hepatectomy. Clinical features were collected from the medical records. We analyzed survival rates of the repeat hepatectomy group and the nonrepeat hepatectomy group. We also investigated factors affecting overall and disease-free survival of patients who received a repeat hepatectomy using univariate and multivariate analyses. RESULTS: Median overall survival was significantly higher in the repeat hepatectomy group than in the nonrepeat group (83.0 months vs. 25.0 months, P < 0.001). The morbidity and mortality rates of repeat hepatectomy were 9.1% and 0%, respectively. Median overall and disease-free survival of the repeat hepatectomy group were 62.0 and 51.0 months, respectively. The number of recurred tumors was the only significant factor for disease-free survival (P = 0.029). None of the factors affected overall survival. CONCLUSION: Repeat hepatectomy is necessary, effective, and safe for treating recurred colorectal liver metastasis. Repeat hepatectomy can be considered in patients with fewer than three recurred metastatic tumors.
Colorectal Neoplasms ; Disease-Free Survival ; Feasibility Studies ; Hepatectomy ; Humans ; Liver ; Medical Records ; Mortality ; Multivariate Analysis ; Neoplasm Metastasis ; Prognosis ; Recurrence ; Survival Rate

PURPOSE: There was a global increase in the prevalence of oseltamivir-resistant influenza viruses during the 2007-2008 influenza season. This study was conducted to investigate the occurrence and characteristics of oseltamivir-resistant influenza viruses during the 2007-2008 and 2008-2009 influenza seasons among patients who were treated with oseltamivir (group A) and those that did not receive oseltamivir (group B). METHODS: A prospective study was conducted on 321 pediatric patients who were hospitalized because of influenza during the 2007-2008 and 2008-2009 influenza seasons. Drug resistance tests were conducted on influenza viruses isolated from 91 patients. RESULTS: There was no significant difference between the clinical characteristics of groups A and B during both seasons. Influenza A/H1N1, isolated from both groups A and B during the 2007-2008 and 2008-2009 periods, was not resistant to zanamivir. However, phenotypic analysis of the virus revealed a high oseltamivir IC50 range and that H275Y substitution of the neuraminidase (NA) gene and partial variation of the hemagglutinin (HA) gene did not affect its antigenicity to the HA vaccine even though group A had a shorter hospitalization duration and fewer lower respiratory tract complications than group B. In addition, there was no significant difference in the clinical manifestations between oseltamivir-susceptible and oseltamivir-resistant strains of influenza A/H1N1. CONCLUSION: Establishment of guidelines to efficiently treat influenza with oseltamivir, a commonly used drug for treating influenza in Korean pediatric patients, and a treatment strategy with a new therapeutic agent is required.
Child ; Drug Resistance ; Hemagglutinins ; Hospitalization ; Humans ; Influenza, Human ; Inhibitory Concentration 50 ; Neuraminidase ; Orthomyxoviridae ; Oseltamivir ; Prevalence ; Prospective Studies ; Respiratory System ; Seasons ; Viruses ; Zanamivir

Bacillus (B.) anthracis is the pathogen that causes fatal anthrax. Strain-specific detection of this bacterium using molecular approaches has enhanced our knowledge of microbial population genetics. In the present study, we employed molecular approaches including multiple-locus variable-number tandem repeat analysis (MLVA) and canonical single-nucleotide polymorphism (canSNP) analysis to perform molecular typing of B. anthracis strains isolated in Korea. According to the MLVA, 17 B. anthracis isolates were classified into A3a, A3b, and B1 clusters. The canSNP analyses subdivided the B. anthracis isolates into two of the three previously recognized major lineages (A and B). B. anthracis isolates from Korea were found to belong to four canSNP sub-groups (B.Br.001/2, A.Br.005/006, A.Br.001/002, and A.Br.Ames). The A.Br.001/002 and A.Br.Ames sub-lineages are closely related genotypes frequently found in central Asia and most isolates were. On the other hand, B. anthracis CH isolates were analyzed that belonged to the B.Br.001/002 sub-group which found in southern Africa, Europe and California (USA). B.Br.001/002 genotype is new lineage of B. anthracis in Korea that was not found before. This discovery will be helpful for the creation of marker systems and might be the result of human activity through the development of agriculture and increased international trade in Korea.
Africa, Southern ; Agriculture ; Anthrax ; Asia ; Bacillus ; Bacillus anthracis ; California ; Europe ; Genetics, Population ; Genotype ; Hand ; Human Activities ; Molecular Typing ; Tandem Repeat Sequences

OBJECTIVES: Osteoclast differentiation and bone resorption are considered a potential therapeutic target to the treatment of erosive bone diseases, including osteoporosis and rheumatoid arthritis. Poria cocos Wolf (PCW), commonly used herbal medicine, has previously been reported to induce anti-inflammatory effect and anti-cancer effect, and to modulate immunologic responses. However, the effects of PCW on osteoclasts, and its detailed mechanisms are not proven. Therefore, we examined the inhibitory mechanism of PCW on osteoclast differentiation and bone resorption. MATERIALS AND METHODS: To analyze the effects of PCW on osteoclast differentiation, we examined osteoclast differentiation in bone marrow macrophages (BMMs) treated with or without of PCW by TRAP staining. The expression of c-Fos, NFATc1, TRAP and OSCAR mRNA was determined by RT-PCR and the protein levels of c-Fos, NFATc1, p38, ERK, JNK, Akt and IkappaB were assessed by western blot. Also, we evaluated the effect of PCW on bone resorption using hydroxyapatite plate. RESULTS: PCW significantly inhibited RANKL-mediated osteoclast differentiation without any evidence of cytotoxicity. We founded that PCW strongly inhibited RANKL-induced osteoclast formation when added during the early stage of cultures, suggesting that PCW acts on osteoclast precursors to inhibit RANKL/RANK signaling. Among the RANK signaling pathways, PCW inhibited the phosphorylation of p38 and JNK, also inhibited RANKL-induced expression of c-Fos, NFATc1, TRAP and OSCAR. In addition, PCW suppressed the bone resorption of mature osteoclasts. CONCLUSIONS: These findings suggest that PCW may be a potential novel drug for bone disorders by targeting the differentiation of osteoclasts as well as their functions.
Arthritis, Rheumatoid ; Blotting, Western ; Bone Diseases ; Bone Marrow ; Bone Resorption ; Cocos ; Durapatite ; Herbal Medicine ; Macrophages ; Osteoclasts ; Osteoporosis ; Phosphorylation ; Poria ; RNA, Messenger ; Wolves

OBJECTIVE: To analyze the incidence of gestational diabetes mellitus (GDM) and its clinical implication of glycosuria identified in 2nd trimester pregnancy. METHODS: This study included pregnant women who had undertaken the 50 g oral glucose tolerance test (50 g OGTT) between 24 and 28 weeks gestation and delivered at term (N=704). Blood and urine sample were collected and analyzed for glucose level, one hour after 50 g OGTT. We applied women to 100 g OGTT if their blood glucose level after 50 g OGTT were more than 140 mg/dL. We compared blood glucose level, rate of GDM, birth weight and number of macrosomia at different urine glucose levels. Urine glucose level were measured by urine dipstick test and grouped to trace, 1+, 2+, 3+, and 4+, which were corresponding to 100, 250, 500, 1,000, 2,000 mg/dL. RESULTS: Women with glycosuria after 50 g OGTT were 258/704 (36.6%). Mean blood glucose levels were 117+/-23 mg/dL, 128+/-20 mg/dL, 135+/-23 mg/dL, 132+/-17 mg/dL, 139+/-25 mg/dL, 153+/-45 mg/dL, mean birth weight 3.29+/-0.40 kg, 3.25+/-0.40 kg, 3.27+/-0.41 kg, 3.34+/-0.35 kg, 3.28+/-0.41 kg, 3.33+/-0.40 kg, and numbers of macrosomia (> or =4.0 kg) 20 (4.5%), 3 (4.8%), 1 (1.8%), 2 (4.2%), 3 (6.7%), 0 (0%) at glycosuria level of negative, trace, 1+, 2+, 3+ and 4+ respectively. Glycosuria level was correlated significantly with blood glucose level (P=0.000), but not with birth weight and macrosomia (P=0.838, 0.881). The rate of GDM was 7/55 (12.7%), 2/48 (4.7%), 7/45 (15.6%), 8/48 (16.7%) in glycosuria level of 1+, 2+, 3+, 4+ and their relationship was statistically significant (P=0.000, AUC=0.734, 95%CI 0.638-0.830). In the cut off value of glycosuria 1+ or greater, sensitivity and positive predictive value were 72.7 and 12.2%. CONCLUSION: Glycosuria correlates well with blood glucose level and GDM prevalence but not with birth weight.
Birth Weight ; Blood Glucose ; Diabetes, Gestational ; Female ; Glucose ; Glucose Tolerance Test ; Glycosuria ; Humans ; Incidence ; Pregnancy ; Pregnant Women ; Prevalence

PURPOSE: Fractures of the mandibular condylar area are common injuries that account for 29% to 40% of fractures of the facial bones and represent 20% to 62% of all mandibular fractures. Currently 3 main methods are being used in the treatment of mandibular subcondylar fractures: closed reduction; open reduction and internal fixation; Endoscopic reduction and internal fixation. Each method has its proponents and opponent as well as advantages and disadvantages, and indications for each vary among surgeons. There are six approaches of open reduction: submandibular, retromandibular, preaurilcular, postauricular, intraoral, transparotid approach. Among them, transparotid approach has been described for subcondylar exposure with dissection in the direction of facial nerve fibers to expose the bone through the parotid gland. This approach carries the risk of a parotid glandular fistula as well as facial nerve injury but has the advantage of being directly over the fracture site. We report safety and efficacy of surgical treatment using a transparotid approach for direct plating. METHODS: A 43-year-old man sustained multiple facial bone fractures by driver traffic accident. Mandibular subcondyle was fractured and dislocated internally. We performed open reduction and internal fixation by transparotid approach. Fractured site was fixed by titanium mini plate & screw. We applicated arch bar for approximately 3 weeks. RESULTS: Follow-up length was about 5months. Scar of surgical incision was indistinct, there was no symptoms and signs of facial nerve and parotid gland injury, and maximal mouth opening was measured 49.5 mm. CONCLUSION: Transparotid approach has high risks of facial nerve and parotid gland injury, but paradoxically it is the most effective technique in saving facial nerve. Open reduction and internal fixation of mandibular subcondylar fracture by transparotid approach with precise and versed procedure, best outcome can be expected.
Accidents, Traffic ; Adult ; Cicatrix ; Facial Bones ; Facial Nerve ; Facial Nerve Injuries ; Fistula ; Follow-Up Studies ; Humans ; Imidazoles ; Mandibular Fractures ; Midazolam ; Mouth ; Nitro Compounds ; Parotid Gland ; Titanium

Compartment syndrome is rarely associated with non-traumatic rhabdomyolysis. We report the case of a 23-year-old man who developed compartment syndrome associated with rhabdomyolysis caused by prolonged immobilization after antidepressive drug overdose. Elevation of serum creatine phosphokinase and myoglobinuria indicated rhabdomyolysis. Painful swelling of the right buttock and thigh and right lower limb paralysis with sensory and motor deficit were suggestive of gluteal and thigh compartment syndrome with the complication of sciatic nerve injury. The patient received an immediate fasciotomy, medical treatment and rehabilitation. At five months after initial treatment, the patient could walk independently with nearly full recovery of his right lower limb function.
Buttocks ; Compartment Syndromes ; Creatine Kinase ; Drug Overdose ; Humans ; Immobilization ; Lower Extremity ; Myoglobinuria ; Paralysis ; Rhabdomyolysis ; Sciatic Nerve ; Thigh ; Young Adult