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1.
Yonsei Medical Journal ; : 224-230, 2021.
Article in English | WPRIM | ID: wpr-875615

ABSTRACT

Purpose@#Nontuberculous mycobacteria (NTM) is ubiquitous in the environment, but NTM lung disease (NTM-LD) is uncommon. Since exposure to NTM is inevitable, patients who develop NTM-LD are likely to have specific susceptibility factors, such as primary ciliary dyskinesia (PCD). PCD is a genetically heterogeneous disorder of motile cilia and is characterized by chronic respiratory tract infection, organ laterality defect, and infertility. In this study, we performed whole exome sequencing (WES) and investigated the genetic characteristics of adult NTM patients with suspected PCD. @*Materials and Methods@#WES was performed in 13 NTM-LD patients who were suspected of having PCD by clinical symptoms and/or ultrastructural ciliary defect observed by transmission electron microscopy. A total of 45 PCD-causing genes, 23 PCDcandidate genes, and 990 ciliome genes were analyzed. @*Results@#Four patients were found to have biallelic loss-of-function (LoF) variants in the following PCD-causing genes: CCDC114, DNAH5, HYDIN, and NME5. In four other patients, only one LoF variant was identified, while the remaining five patients did not have any LoF variants. @*Conclusion@#At least 30.8% of NTM-LD patients who were suspected of having PCD had biallelic LoF variants, and an additional 30.8% of patients had one LoF variant. Therefore, PCD should be considered in patients with NTM-LD with symptoms or signs suspicious of PCD.

2.
Article in English | WPRIM | ID: wpr-874432

ABSTRACT

In Korean women, a westernized lifestyle is associated with an increased risk of breast cancer. Fertility preservation has become an increasingly important issue for women with breast cancer, in accordance with substantial improvements in survival rate after cancer treatment. The methods of controlled ovarian hyperstimulation (COH) for fertility preservation in breast cancer patients have been modified to include aromatase inhibitors to reduce the potential harm associated with increased estradiol levels. Random-start COH and dual ovarian stimulation are feasible options to reduce the total duration of fertility preservation treatment and to efficiently collect oocytes or embryos. Using a gonadotropin-releasing hormone agonist as a trigger may improve cycle outcomes in breast cancer patients undergoing COH for fertility preservation. In young breast cancer patients with BRCA mutations, especially BRCA1 mutations, the possibility of diminished ovarian reserve may be considered, although further studies are necessary. Herein, we review the current literature on the practical issues surrounding COH for fertility preservation in women with breast cancer.

3.
Article in English | WPRIM | ID: wpr-785398

ABSTRACT

BACKGROUND: Differences in the performance of suggested warfarin dosing algorithms among different ethnicities and genotypes have been reported; this necessitates the development of an algorithm with enhanced performance for specific population groups. Previous warfarin dosing algorithms underestimated warfarin doses in VKORC1 1173C carriers. We aimed to develop and validate a new warfarin dosing algorithm for Korean patients with VKORC1 1173C.METHODS: A total of 109 patients carrying VKORC1 1173CT (N=105) or 1173CC (N=4) were included in this study. Multiple regression analysis was performed to deduce a new dosing algorithm. Following literature searches for genotype-guided warfarin dosing algorithms, 21 algorithms were selected and evaluated using the correlation coefficient (ρ) of actual dose and estimated dose, mean error, and root mean square error.RESULTS: The developed algorithm is as follows: maintenance dose (mg/week)=exp [3.223−0.009×(age)+0.577×(body surface area [BSA])+0.178×(sex)−0.481×(CYP2C9 genotype)+0.227×(VKORC1 genotype)]. Integrated variables explained 44% of the variance in the maintenance dose. The predicted and actual doses showed moderate correlation (ρ=0.641) with the best performance with a mean error of −1.30 mg/week. The proportion of underestimated groups was 17%, which was lower than with the other algorithms.CONCLUSIONS: This is the first study to develop and validate a warfarin dosing algorithm based on data from VKORC1 1173C carriers; it showed superior predictive performance compared with previously published algorithms.


Subject(s)
Genotype , Humans , Korea , Population Groups , Warfarin
4.
Laboratory Medicine Online ; : 197-201, 2020.
Article | WPRIM | ID: wpr-836925

ABSTRACT

Background@#IgD is an immunoglobulin isotype that accounts for 100 mg/L. The established upper limit of the reference interval was 53.6 mg/L. @*Conclusions@#The SPAPLUS shows good analytical performance for serum IgD quantification.

5.
Immune Network ; : e33-2020.
Article | WPRIM | ID: wpr-835451

ABSTRACT

We tested how adjuvants effect in a cancer vaccine model using an epitope derived from an autoactivation loop of membrane-type protease serine protease 14 (PRSS14; loop metavaccine) in mouse mammary tumor virus (MMTV)-polyoma middle tumor-antigen (PyMT) system and in 2 other orthotopic mouse systems. Earlier, we reported that loop metavaccine effectively prevented progression and metastasis regardless of adjuvant types and TH types of hosts in tail-vein injection systems. However, the loop metavaccine with Freund's complete adjuvant (CFA) reduced cancer progression and metastasis while that with alum, to our surprise, were adversely affected in 3 tumor bearing mouse models. The amounts of loop peptide specific antibodies inversely correlated with tumor burden and metastasis, meanwhile both TH1 and TH 2 isotypes were present regardless of host type and adjuvant. Tumor infiltrating myeloid cells such as eosinophil, monocyte, and neutrophil were asymmetrically distributed among 2 adjuvant groups with loop metavaccine. Systemic expression profiling using the lymph nodes of the differentially immunized MMTV-PyMT mouse revealed that adjuvant types, as well as loop metavaccine can change the immune signatures. Specifically, loop metavaccine itself induces TH2 and TH17 responses but reduces TH1 and Treg responses regardless of adjuvant type, whereas CFA but not alum increased follicular THresponse. Among the myeloid signatures, eosinophil was most distinct between CFA and alum. Survival analysis of breast cancer patients showed that eosinophil chemokines can be useful prognostic factors in PRSS14 positive patients. Based on these observations, we concluded that multiple immune parameters are to be considered when applying a vaccine strategy to cancer patients.

6.
Article in Korean | WPRIM | ID: wpr-760483

ABSTRACT

Surface immunoglobulin light-chain restriction is evidence of clonality in mature B-cell neoplasms. An aberrant pattern of surface light-chain expression can also be considered evidence of clonality. However, because this result could occur due to nonspecific staining or failure to stain, careful interpretation is required for accurate diagnosis. According to a previous study, flow cytometric analysis of the cytoplasmic pattern of light-chain expression in mature B-cell neoplasms is a viable approach to confirming clonality. Herein, we report a case, in which clonality could not be proven by surface light-chain analysis, but was demonstrated by cytoplasmic light-chain analysis. The case was in a patient with B-cell lymphoma showing non-specific surface expression of light-chains. This case support consideration of flow cytometric analysis of cytoplasmic light-chain expression patterns when aberrant surface light chain expression is observed, to confirm clonality of mature B-cell neoplasms.


Subject(s)
B-Lymphocytes , Cytoplasm , Diagnosis , Flow Cytometry , Humans , Immunoglobulin Light Chains , Lymphoma, B-Cell
7.
Article in English | WPRIM | ID: wpr-719098

ABSTRACT

OBJECTIVE: This study examined the initial partial pressure of carbon dioxide (PCO₂) as a possible indicator of prehospital ventilation and its association with prehospital i-gel in out-of-hospital cardiac arrest (OHCA) patients. METHODS: The demographics and arrest parameters, including i-gel insertion and initial arterial blood gas analysis, of OHCA patients who visited the emergency department were analyzed retrospectively. Linear regression analysis was performed to examine the association between i-gel insertion and the initial PCO₂. RESULTS: A total of 106 patients were investigated. Fifty-six patients had prehospital i-gel insertion and 50 patients did not have a prehospital advanced airway. The initial PCO₂ was higher in the i-gel group than the no advanced airway group (105.2 mmHg [77.5–134.9] vs. 87.5 mmHg [56.8–115.3], P=0.03). Prehospital i-gel insertion was associated with a higher initial PCO₂ level (βcoefficient, 20.3; 95% confidence interval, 2.6–37.9; P=0.03). CONCLUSION: Prehospital insertion of i-gel was associated with higher initial PCO₂ values in OHCA patients compared to no advanced airway.


Subject(s)
Airway Management , Blood Gas Analysis , Carbon Dioxide , Cardiopulmonary Resuscitation , Demography , Emergency Medical Services , Emergency Service, Hospital , Heart Arrest , Humans , Linear Models , Out-of-Hospital Cardiac Arrest , Partial Pressure , Retrospective Studies , Ventilation
9.
Article in English | WPRIM | ID: wpr-57447

ABSTRACT

We describe the laboratory identification of Leptotrichia species from clinical isolates collected over a six-year period. Five isolates from blood cultures were identified as Leptotrichia species. Gram stain showed large, fusiform, gram-negative or -variable bacilli. Identification based on biochemical testing was unsuccessful; however, matrix-assisted laser desorption/ionization time-of-flight mass spectrometry proved to be a useful tool for identifying Leptotrichia species to the genus level. Species level identification was successfully achieved by using 16S ribosomal RNA gene sequencing.


Subject(s)
Bacteremia , Humans , Leptotrichia , Mass Spectrometry , RNA, Ribosomal, 16S
11.
Article in English | WPRIM | ID: wpr-122845

ABSTRACT

Giant cell tumor (GCT) is a relatively rare neoplasm. In GCT, the bone affection of the axial skeleton is extremely rare. Most GCT arises in the meta-epiphyseal ends of the long bones. Its peak incidence is between 30 to 40 years of age. GCT is usually classified as benign, but shows locally aggressive behavior and may occasionally undergo a malignant transformation. The patients with GCT in the spine often complain of the lower back pains, as the tumors primarily involve the sacrum. We report a case of an adolescent female complaining of the upper back pain with a sudden weakness of the lower extremities, later diagnosed with the GCT of the T2 vertebra. The present patient showed American Spinal Injury Association Impairment Scale (AIS) D before the surgery, which changed to AIS E after the treatments including the surgery, radiation therapy and rehabilitation.


Subject(s)
Adolescent , Back Pain , Female , Giant Cell Tumors , Giant Cells , Humans , Incidence , Low Back Pain , Lower Extremity , Sacrum , Skeleton , Spinal Cord , Spinal Cord Injuries , Spinal Injuries , Spine
12.
Article in English | WPRIM | ID: wpr-208526

ABSTRACT

Thyroid carcinoma is the commonest endocrinological malignancy. After papillary thyroid carcinoma (PTC), follicular thyroid carcinoma (FTC) is the second most common histological subtype. Common presentations of FTC include a solitary thyroid nodule and cervical lymphadenopathy. The incidence of individuals diagnosed with thyroid cancer showing initially distant metastatic disease ranges from 1 to 9%. Also, the incidence of solitary bone metastasis from thyroid is only 2 to 3%. We report a case of a patient with FTC whose initial presentation was low back pain and right buttock pain due to vertebral metastasis rather than the usual neck lumps or symptoms of thyroid disease.


Subject(s)
Adenocarcinoma, Follicular , Buttocks , Carcinoma , Fractures, Compression , Humans , Incidence , Low Back Pain , Lymphatic Diseases , Neck , Neoplasm Metastasis , Thyroid Diseases , Thyroid Gland , Thyroid Neoplasms , Thyroid Nodule
13.
Article in English | WPRIM | ID: wpr-47129

ABSTRACT

Rheumatoid arthritis (RA) is a chronic inflammatiory disease that mainly destroys cartilages or bones at the joints. This inflammatory disorder is initiated by self-attack using own immune system, but the detail of pathological mechanism is unclear. Features of autoantigens leading to autoimmune disease are also under veil although several candidates including type II collagen have been suggested to play a role in pathogenesis. In this report, we tried to identify proteins responding to antibodies purified from RA patients and screen proteins up-regulated or down-regulated in RA using proteomic approach. Fibronectin, semaphorin 7A precursor, growth factor binding protein 7 (GRB7), and immunoglobulin mu chain were specifically associated with antibodies isolated from RA synovial fluids. In addition, some metabolic proteins such as adipocyte fatty acid binding protein, galectin-1 and apolipoprotein A1 precursor were overexpressed in RA synovium. Also, expression of peroxiredoxin 2 was up-regulated in RA. On the contrary, expression of vimentin was severely suppressed in RA synoviocytes. Such findings might give some insights into understanding of pathological mechanism in RA.


Subject(s)
Synovial Fluid/metabolism , Sepharose/chemistry , Proteomics/methods , Middle Aged , Male , Inflammation , Humans , Gene Expression Regulation , Female , Collagen Type II/biosynthesis , Autoantigens/metabolism , Arthritis, Rheumatoid/metabolism , Aged , Adult
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