• Korean Journal of Clinical Laboratory Science
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• v.38 no.1
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• pp.38-44
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• 2006

A simple and easy modification of AST by disk diffusion was tested for the detection of induced clindamycin resistant Staphylococci and their antimicrobial susceptibility at the same time. The incidence of inducible clindamycin resistant staphylococci in blood culture and their MIC characterization at Seoul National University Hospital was analyzed by an AST contained disk approximation test (D-zone test) and Etest, respectively. Of the total 309 staphylococcal isolates, 139 (45%) isolates presented constitutive resistance to ERY and CLI (ERY-R, CLI-R phenotype), and 59 were ERY-I/R and CLI-S phenotypes. Of the 59 isolates, 19 (32%) isolates were inducible resistant to CLI. The incidence was higher in S. aureus (66.7%) than coagulase-negative staphylococci (CNS, 26.0%). Especially, methicillin-resistant staphylococci (MRSA, 100%; MRCNS, 45.5%) presented higher inducibility than methicillin susceptible (MSSA, 50%; MSCNS, 20%). For most of the inducible clindamycin resistant staphylococci (15 of 19 isolates), their ERY MIC were high (>$128_{\mu}g/mL$) and were methicillin resistant. The remaining 4 isolates were methicillin susceptible and their ERY MIC were of intermediate concentrations ($1-4_{\mu}g/mL$). We concluded that suscetibility testing of staphylococci, especially methicillin resistant, should include the D-zone test.

• Journal of Genetic Medicine
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• v.8 no.1
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• pp.62-66
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• 2011

Deletions of 14q including band 14q32.33 are uncommon. Patients with terminal deletions of chromosome 14 usually share a number of clinical features. By molecular techniques (array comparative genomic hybridization (CGH) and fluorescence in situ hybridization (FISH), we identified a young girl with 0.3 Mb terminal 14q32.33 deletion. Review of the nine cases with pure terminal 14q32.3 deletions described to date documented that our observation is the smallest terminal 14q deletion ever reported. The phenotype of our patient is much less severe than the phenotypes of the patients reported previously. We report our experience in examining the clinical, behavioral, and cognitive findings in a 5-year-old girl studied with chromosomal microarray hybridization and reviewed previously reported patients with 14q32 deletions.

• KSBB Journal
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• v.28 no.1
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• pp.54-59
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• 2013

Three isolates, E. faecium P1, P2 and P3, from intestinal drugs of three phamaceutical companies, four clinical vancomycin resistant isolates, E. faecium V1, V2, V3 and E. faecalis V4, and three isolates, E. faecalis DW01, DW07 and DW14, from infant feces were tested for the presence of virulence genes, ace, agg, esp, efaA, gelE, sprE, vanA and vanB as well as fsrABC, regulatory genes of gelE and sprE, cylMBA, cytolysin activation genes and cpd, cob and ccf, pheromone genes by PCR and for their phenotype activities such as protease, biofilm formation, cell clumping and hemolysis. The genes encoding cell surface adherence proteins, ace, agg, esp and efaA, were predominantly amplified from the vancomycin resistant strain V4 and the fecal isolates DW01, DW07 and DW14. Both protease and biofilm formation activity were detected only from E. faecalis V4 from which the PCR products of gelE and spreE as well as fsrABC were amplified. The pheromone genes were amplified from the V4, DW01, DW07 and DW14 strains and these strains showed clumping activity. Biofilm formation was observed from the strains DW01, DW07 and DW14, all of which produced PCR products of pheromone, and V4 as well. Whole cytolysin regulator genes were amplified from DW01, DW07 and DW14 and ${\beta}$-hemolysis activity was detected from these strains. Any virulence genes or activities except the pheomone gene ccf were not detected from the pharmaceutical isolates, E. faecium P1, P2 and P3.

• The Korean Journal of Cytopathology
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• v.19 no.2
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• pp.168-172
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• 2008

T-cell prolymphocytic leukemia (T-PLL) is a rare, mature T-cell lymphoproliferative disorder with a post-thymic mature T-cell phenotype. The disease is characterized by rapidly rising lymphocytosis, lym-phadenopathy, and splenomegaly. The clinical course is usually aggressive and progresses with frequent skin lesions and serous effusions. In 25% of cases, leukemic cells are small and tumor cells may not have a discrete nucleolus under light microscopy. Although the presence of characteristic cytoplasmic protrusions or blebs in tumor cells is a common morphologic finding in the peripheral blood film irrespective of the nuclear features, small cell variants lacking the typical nuclear features can cause diagnostic problems in clinical cytology. Furthermore, the small leukemic cells can share some cytologic findings with lymphocyte-rich serous effusions caused by non-neoplastic reactive lymphocytosis as well as other small lymphocytic lymphoproliferative disorders. Here, we describe the cytological findings of ascitic fluid complicated by small cell variant T-PLL in a 54-year-old man, the cytology of which was initially interpreted as small lymphocytic malignancy such as small lymphocytic lymphoma/chronic lymphocytic leukemia.

• Clinical and Experimental Pediatrics
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• v.64 no.8
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• pp.373-383
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• 2021

Rhinitis is among the most common respiratory diseases in children. Nonallergic rhinitis, which involves nasal symptoms without evidence of systemic allergic inflammation or infection, is a heterogeneous entity with diverse manifestations and intensities. Nonallergic rhinitis accounts for 16%-89% of the chronic rhinitis cases, affecting 1%-50% (median 10%) of the total pediatric population. The clinical course of nonallergic rhinitis is generally rather mild and less likely to be associated with allergic comorbidities than allergic rhinitis. Here, we aimed to estimate the rate of coexisting comorbidities of nonallergic rhinitis. Nonallergic rhinitis is more prevalent during the first 2 years of life; however, its underestimation for children with atopic tendencies is likely due to low positive rates of specific allergic tests during early childhood. Local allergic rhinitis is a recently noted phenotype with rates similar to those in adults (median, 44%; range, 4%-67%), among patients previously diagnosed with nonallergic rhinitis. Idiopathic rhinitis, a subtype of nonallergic rhinitis, has been poorly studied in children, and its rates are known to be lower than those in adults. The prevalence of nonallergic rhinitis with eosinophilia syndrome is even lower. A correlation between nonallergic rhinitis and pollution has been suggested owing to the recent increase in nonallergic rhinitis rates in highly developing regions such as some Asian countries, but many aspects remain unknown. Conventional treatments include antihistamines, intranasal corticosteroids, and recent treatments include combination of intranasal corticosteroids with azelastin or decongestants. Here we review the prevalence, diagnosis, comorbidities, and treatment recommendations for nonallergic rhinitis versus allergic rhinitis in children.

• Journal of Yeungnam Medical Science
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• v.38 no.2
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• pp.160-164
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• 2021

Oculocutaneous albinism (OCA) is a group of rare genetically heterogeneous disorders, characterized by hypopigmentation of the eyes, skin, and hair, which result in ocular abnormalities and a risk of developing skin cancer. Currently, there is no ophthalmologic procedure or drug that prevents the clinical features of OCA. Here, we report a new type of OCA in two, unrelated Korean families with the same OCA2 mutation. Affected individuals in this study are different from those of previous reports in two aspects: an inheritance pattern and clinical presentation. All reported patients with OCA have shown an autosomal recessive inheritance pattern, while our patients showed an autosomal dominant inheritance pattern. Small amounts of pigment can be acquired with age in OCA, but there is no substantial variation from adolescence to adulthood in this regard. A case where the patient attained normal pigmentation levels has never been reported. However, our patients displayed completely normal pigmentation in their late twenties. Whole exome sequencing and in-silico analysis revealed a novel mutation, OCA2 c.2338G>A p.(G780S) (NM_000275) with a high likelihood of pathogenicity. Sanger sequencing of p.G780S identified the same mutation in the affected individuals, which was not found in the family members with normal phenotype. We hypothesize that OCA2 G780S not only acts as a pathogenic variant of OCA but also induces pigmentation by enhancing the melanogenesis gene expression of other modifier genes, such as SLC45A2 and TPC2. These findings may provide further understanding of melanin biosynthesis and new treatment methods for OCA.

• Journal of Nutrition and Health
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• v.55 no.6
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• pp.601-616
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• 2022

In the era of the fourth industrial revolution technology, the inclusion of personalized nutrition for healthcare (PNH), when establishing a healthcare platform to prevent chronic diseases such as obesity, diabetes, cerebrovascular and cardiovascular disease, pulmonary disease, and inflammatory diseases, enhances the national competitiveness of global healthcare markets. Furthermore, since the government experienced COVID-19 and the population dead cross in 2020, as well as numerous health problems due to an increasing super-aged Korean society, there is an urgent need to secure, develop, and utilize PNH-related technologies. Three conditions are essential for the development of PNH technologies. These include the establishment of causality between obesity genome (genotype) and prevalence (phenotype) in Koreans, validation of clinical intervention research, and securing PNH-utilization technology (i.e., algorithm development, artificial intelligence-based platform, direct-to-customer [DTC]-based PNH, etc.). Therefore, a national control tower is required to establish appropriate PNH infrastructure (basic and clinical research, cultivation of PNH-related experts, etc.). The post-corona era will be aggressive in sharing data knowledge and developing related technologies, and Korea needs to actively participate in the large-scale global healthcare markets. This review provides the importance of scientific evidence based on a huge dataset, which is the primary prerequisite for the DTC obesity gene-based PNH technologies to be competitive in the healthcare market. Furthermore, based on comparing domestic and internationally approved DTC obese genes and the current status of Korean obesity genome-based PNH research, we intend to provide a direction to PNH planners (individuals and industries) for establishing scientific PNH guidelines for the prevention of obesity.

• Tuberculosis and Respiratory Diseases
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• v.76 no.5
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• pp.226-232
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• 2014

Background: Chronic obstructive pulmonary disease (COPD) is characterized by airflow limitation and results from environmental factors and genetic factors. Although cigarette smoking is a major risk factor, other environmental exposures can influence COPD. The purpose of this study is to investigate the clinical characteristics of COPD according to the history of environmental exposure. Methods: The study population comprised of 347 subjects with COPD who were recruited from the pulmonary clinics of 14 hospitals within the Korean Obstructive Lung Disease Study Group. We classified environmental exposures according to history of living near factory, and direct exposure history to firewood or briquette. According to living environmental exposures, we compared the frequency of respiratory symptoms, pulmonary function, quality of life, exercise capacity, and computed tomography phenotypes. Results: Thirty-one subjects (8.9%) had history of living near factory, 271 (78.3%) had exposure history to briquette, and 184 (53.3%) had exposure history to firewood. Patients with history of living near a factory had a significantly longer duration of sputum, while patients with exposure to firewood tended to have lower forced expiratory volume in one second, and patients with exposure to briquette tended to have lower six minute walk distance. Conclusion: COPD subjects with the history of living near factory had more frequent respiratory symptoms such as sputum. Our data suggest that environmental exposure may influence clinical phenotype of COPD.

• Asian Pacific Journal of Cancer Prevention
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• v.16 no.6
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• pp.2465-2472
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• 2015

Background: The Quality Audit (BQA) program of the Breast Surgeons of Australia and New Zealand (NZ) collects data on early female breast cancer and its treatment. BQA data covered approximately half all early breast cancers diagnosed in NZ during roll-out of the BQA program in 1998-2010. Coverage increased progressively to about 80% by 2008. This is the biggest NZ breast cancer database outside the NZ Cancer Registry and it includes cancer and clinical management data not collected by the Registry. We used these BQA data to compare socio-demographic and cancer characteristics and survivals by ethnicity. Materials and Methods: BQA data for 1998-2010 diagnoses were linked to NZ death records using the National Health Index (NHI) for linking. Live cases were followed up to December $31^{st}$ 2010. Socio-demographic and invasive cancer characteristics and disease-specific survivals were compared by ethnicity. Results: Five-year survivals were 87% for Maori, 84% for Pacific, 91% for other NZ cases and 90% overall. This compared with the 86% survival reported for all female breast cases covered by the NZ Cancer Registry which also included more advanced stages. Patterns of survival by clinical risk factors accorded with patterns expected from the scientific literature. Compared with Other cases, Maori and Pacific women were younger, came from more deprived areas, and had larger cancers with more ductal and fewer lobular histology types. Their cancers were also less likely to have a triple negative phenotype. More of the Pacific women had vascular invasion. Maori women were more likely to reside in areas more remote from regional cancer centres, whereas Pacific women generally lived closer to these centres than Other NZ cases. Conclusions: NZ BQA data indicate previously unreported differences in breast cancer biology by ethnicity. Maori and Pacific women had reduced breast cancer survival compared with Other NZ women, after adjusting for socio-demographic and cancer characteristics. The potential contributions to survival differences of variations in service access, timeliness and quality of care, need to be examined, along with effects of comorbidity and biological factors.

• Journal of Microbiology
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• v.45 no.1
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• pp.21-28
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• 2007

In order to search for specific genotypes related to this unique phenotype, we used whole genomic DNA microarray to characterize the genomic diversity of Helicobacter pylori (H. pylori) strains isolated from clinical patients in China. The open reading frame (ORF) fragments on our microarray were generated by PCR using gene-specific primers. Genomic DNA of H. pylori 26695 and J99 were used as templates. Thirty-four H. pylori isolates were obtained from patients in Shanghai. Results were judged based on In(x) transformed and normalized Cy3/Cy5 ratios. Our microarray included 1882 DNA fragments corresponding to 1636 ORFs of both sequenced H. pylori strains. Cluster analysis, revealed two diverse regions in the H. pylori genome that were not present in other isolates. Among the 1636 genes, 1091 (66.7%) were common to all H. pylori strains, representing the functional core of the genome. Most of the genes found in the H. pylori functional core were responsible for metabolism, cellular processes, transcription and biosynthesis of amino acids, functions that are essential to H. pylori's growth and colonization in its host. In contrast, 522 (31.9%) genes were strain-specific genes that were missing from at least one strain of H. pylori. Strain-specific genes primarily included restriction modification system components, transposase genes, hypothetical proteins and outer membrane proteins. These strain-specific genes may aid the bacteria under specific circumstances during their long-term infection in genetically diverse hosts. Our results suggest 34 H. pylori clinical strains have extensive genomic diversity. Core genes and strain-specific genes both play essential roles in H. pylori propagation and pathogenesis. Our microarray experiment may help select relatively significant genes for further research on the pathogenicity of H. pylori and development of a vaccine for H. pylori.