Analysis of Women's Health Online News Articles Using Topic Modeling

OBJECTIVES: This research aimed to understand the popularity of topics in the field of women's health through analysis of online news articles which were chronologically classified and examined to determine how women's health and diseases had changed over time. METHODS: Women's health and disease news articles were collated from a popular news website between 1993 to 2015 and preprocessed using gynecological medical terminology, Korean words and nouns (excluding general nouns not related to women's healthcare topics). The resultant articles (N = 7,710) were analyzed using the Latent Dirichlet Allocation algorithm and major topics were extracted. Topic trends were analyzed by year and period for women's health. RESULTS: It was observed that most of the women's health articles were focused on “Healthcare”, and 9 other topics were identified that represented a relatively small proportion in 1993–2000. In 2001–2005, most of the articles were focused on “Medical Services” and “Dietary Supplements” with some specific topics that peaked people's interest, as compared to those focused on “Healthcare” in the 1990s. It was also observed that differences in the proportion of each topic was small after 2011. CONCLUSION: Changes in topics related to women's disease were not clearly distinguished in the 1990s but this changed from 2001where articles related to “women disease” appeared as articles on the topics of various diseases.

Evaluation of Peptide Nucleic Acid Probe-Based Fluorescence In Situ Hybridization for the Detection of Mycobacterium tuberculosis Complex and Nontuberculous Mycobacteria in Clinical Respiratory Specimens / 대한임상미생물학회지

BACKGROUND: Tuberculosis is globally the most important cause of death from single pathogen. Rapid and accurate identification of mycobacteria is essential for the control of tuberculosis. We evaluated a fluorescence in situ hybridization (FISH) method using peptide nucleic acid (PNA) probes for the differentiation of Mycobacterium tuberculosis complex (MTB) and nontuberculous mycobacteria (NTM) in direct smears of sputum specimens. METHODS: The cross-reactivity of MTB- and NTM-specific PNA probes was examined with reference strains of M. tuberculosis ATCC 13950, Mycobacterium kansasii ATCC 12479, Mycobacterium fortuitum ATCC 6841, several clinical isolates of mycobacteria (Mycobacterium abscessus, Mycobacterium avium, Mycobacterium intracellulare, Mycobacterium gordonae and Mycobacterium chelonae), and 11 frequently isolated respiratory bacterial species other than mycobacteria. A series of 128 sputa (89 MTB culture positive, 29 NTM culture positive, and 10 under treatment culture negative) with grades of trace to 4+ were used to evaluate the performance of the method. RESULTS: The MTB- and NTM-specific PNA probes showed specific reactions with the reference strains of MTB and M. kansasii and clinical isolates of mycobacteria except M. fortuitum ATCC 6841, and no cross-reactivity with other tested bacteria. The PNA probe-based FISH assay for detection of MTB had a sensitivity and specificity of 100%, respectively. The sensitivity and specificity of the NTM-specific PNA probe was 100%. The smear grades of the PNA FISH test were same as with those of the fluorescence AFB stain in 2+ or higher grade. CONCLUSION: Detection and differentiation based on PNA FISH is sensitive and accurate for detecting mycobacteria and for differentiating MTB from NTM in clinical sputum smears.

Incidence, Clinical Features, and Prognostic Impact of CALR Exon 9 Mutations in Essential Thrombocythemia and Primary Myelofibrosis: An Experience of a Single Tertiary Hospital in Korea

We evaluated the incidence, clinical characteristics, and prognostic impact of calreticulin (CALR) mutations in essential thrombocythemia (ET) and primary myelofibrosis (PMF) patients. In all, 48 ET and 14 PMF patients were enrolled, and the presence of CALR mutations was analyzed by direct sequencing. Patients were classified into three subgroups according to Janus kinase 2 (JAK2) V617F and CALR mutation status, and their clinical features and prognosis were compared. CALR mutations were detected in 15 (24.2%) patients, and the incidence increased to 50.0% in 30 JAK2 V617F mutation-negative cases. These included 11 patients with three known mutations (c.1092_1143del [seven cases], c.1154_1155insTTGTC [three cases], and c.1102_1135del [one case]) and 4 patients with novel mutations. ET patients carrying CALR mutation were younger, had lower white blood cell counts, and experienced less thrombosis during follow-up than those carrying JAK2 V617F mutation, while both patient groups showed similar clinical features and prognosis. In ET patients without JAK2 V617F mutation, CALR mutation did not significantly affect clinical manifestation and prognosis. In conclusion, CALR mutation analysis could be a useful diagnostic tool for ET and PMF in 50% of the cases without JAK2 V617F mutations. The prognostic impact of CALR mutations needs further investigation.

Clinical Relevance of High-Resolution Single Nucleotide Polymorphism Array in Patients with Relapsed Acute Lymphoblastic Leukemia with Normal Karyotype: A Report of Three Cases

We report three patients with normal karyotype (NK) ALL, who showed genetic aberrations as determined by high-resolution single nucleotide polymorphism array (SNP-A) analysis at both diagnosis and relapse. We evaluated the clinical relevance of the SNP-A assay for the detection of subtle changes in the size of affected genetic lesions at relapse as well as the prognostic value of the assay. In our patients, application of the SNP-A assay enabled sensitive detection of cryptic changes affecting clinically important genes in NK ALL. Therefore, this assay seems to be more advantageous compared to other conventional methods such as FISH assay, HemaVision (DNA Technology, Denmark), and conventional karyotyping for the detection of an "unstable genotype" at relapse, which may be associated with microscopic clonal evolution and poor prognosis. Further comprehensive studies are required to confirm the issues presented by our case patients in this report.

Customer Satisfaction Survey With Clinical Laboratory and Phlebotomy Services at a Tertiary Care Unit Level

We performed customer satisfaction surveys for physicians and nurses regarding clinical laboratory services, and for outpatients who used phlebotomy services at a tertiary care unit level to evaluate our clinical laboratory and phlebotomy services. Thus, we wish to share our experiences with the customer satisfaction survey for clinical laboratory and phlebotomy services. Board members of our laboratory designed a study procedure and study population, and developed two types of questionnaire. A satisfaction survey for clinical laboratory services was conducted with 370 physicians and 125 nurses by using an online or paper questionnaire. The satisfaction survey for phlebotomy services was performed with 347 outpatients who received phlebotomy services by using computer-aided interviews. Mean satisfaction scores of physicians and nurses was 58.1, while outpatients' satisfaction score was 70.5. We identified several dissatisfactions with our clinical laboratory and phlebotomy services. First, physicians and nurses were most dissatisfied with the specimen collection and delivery process. Second, physicians and nurses were dissatisfied with phlebotomy services. Third, molecular genetic and cytogenetic tests were found more expensive than other tests. This study is significant in that it describes the first reference survey that offers a survey procedure and questionnaire to assess customer satisfaction with clinical laboratory and phlebotomy services at a tertiary care unit level.

A Case of Pyogenic Spondylitis Due to Aggregatibacter aphrophilus / 대한임상미생물학회지

Aggregatibacter aphrophilus, a normal component of oral cavity flora, mostly causes infective endocarditis and only rarely causes spondylitis; no spondylitis cases have been previously reported in Korea. We report a case of pyogenic spondylitis due to A. aphrophilus without endocarditis. A 64-year-old man was admitted for back pain lasting 3 weeks. There was severe tenderness on lumbar spines but no fever. Laboratory evaluation showed leukocytosis and elevated C-reactive protein. Blood cultures were negative. Magnetic resonance imaging showed psoas abscess and vertebral inflammation. Pus was obtained by computerized tomography-guided aspiration from the psoas abscess and inoculated into blood culture bottles. After 5 days of incubation, growth was detected: the isolate was a Gram-negative short rod bacteria identified as A. aphrophilus by the automated system; this was confirmed by 16S ribosomal RNA sequencing. There was no evidence of endocarditis in echocardiography and retinal examination. Back pain persisted despite 8 weeks of antibiotic treatment, so vertebral corpectomy was performed. A. aphrophilus, a rare cause of pyogenic spondylitis, can induce spondylitis without endocarditis. If a patient with pyogenic spondylitis shows negative routine bacterial cultures, fastidious organisms such as A. aphrophilus should be suspected and the blood culture bottles could be used.

Discrepant Satellitism for Identification of Granulicatella adiacens Isolates

No abstract available.

Early Detection of Mycobacteria Using a Novel Hydrogel Culture Method

BACKGROUND: Early laboratory detection of Mycobacterium tuberculosis is crucial for controlling tuberculosis. We developed a hydrogel mycobacterial culture method that retains the advantages of both solid and liquid methods in terms of speed, cost, and efficiency. METHODS: Mycobacterium bovis bacillus Calmette-Guerin (BCG) suspensions and 200 acid-fast bacilli (AFB)-positive clinical specimens were inoculated in Middlebrook 7H9 liquid media (Becton-Dickinson and Company, USA) and mixed with 75 microL of 9-fluorenylmethoxycarbonyl (Fmoc)-Phe-Phe-OH hydrogel stock solution in an Eppendorf tube just before culture incubation. The mixtures were cultured at 37degrees C for as long as 14 days to monitor culture status. RESULTS: The number of M. bovis BCG increased with time. For 200 AFB smear-positive specimens, 155 of 158 conventional culture-positive specimens and 4 culture-negative or contaminated specimens yielded positive cultures within 14 days. For 128 specimens positive with the liquid culture method, the time to positive culture using the hydrogel method (mean, 12.6 days; range, 7 to 14 days) was significantly shorter than that for conventional liquid culture (mean, 16.2 days; range, 6 to 31 days; P<0.0001). CONCLUSIONS: The hydrogel scaffold culture system is useful for timely, economical, and efficient detection of mycobacteria in clinical specimens.

The First Korean Case of Sphingobacterium spiritivorum Bacteremia in a Patient with Acute Myeloid Leukemia

Sphingobacterium spiritivorum has been rarely isolated from clinical specimens of immunocompromised patients, and there have been no case reports of S. spiritivorum infection in Korea to our knowledge. We report a case of S. spiritivorum bacteremia in a 68-yr-old woman, who was diagnosed with acute myeloid leukemia and subsequently received chemotherapy. One day after chemotherapy ended, her body temperature increased to 38.3degrees C. A gram-negative bacillus was isolated in aerobic blood cultures and identified as S. spiritivorum by an automated biochemical system. A 16S rRNA sequencing analysis confirmed that the isolate was S. spiritivorum. The patient received antibiotic therapy for 11 days but died of septic shock. This is the first reported case of human S. spiritivorum infection in Korea. Although human infection is rare, S. spiritivorum can be a fatal opportunistic pathogen in immunocompromised patients.

Eleven Years' Experience with Unexpected Antibody Screening Tests Including a Di(a) Cell in Transfusion Candidates / 대한수혈학회지

BACKGROUND: The Di(a) antigen has been detected with a relatively higher incidence among the Korean and Southeast Asian population. A 'Type and Screen' procedure is recommended for efficient transfusion, therefore, we perform antibody screening tests using antibody screening panels containing a Di(a) cell. The purpose of this study was to report on the experience of unexpected antibody screening test including a Di(a) cell in the Korean population. METHODS: We analyzed the results of antibody screening testing and identification performed during the recent 11-year period from January 2002 to December 2012. A commercially available three-cell antigen panel (Diacell I, II, Di(a); DiaMed, Murten, Switzerland) was used for antibody screening. Antibodies were identified using a LISS/Coombs gel card and NaCl/Enzyme card, using the DiaMed-ID system (DiaMed, Murten, Switzerland). RESULTS: The frequency of unexpected antibodies was 1.23% (1,918/156,161); the most frequently detected antibodies were anti-E (292 samples), followed by anti-E,c (127 samples), anti-Le(a) (103 samples), and anti-Di(a) (91 samples). CONCLUSION: Results of this study showed that the most identified unexpected antibodies were clinically significant, and, in particular, anti-Di(a) antibodies are detected frequently in the Korean population. Thus, unexpected antibody screening test including a Di(a) cell is thought to be helpful in Korea for safe transfusion.

Distribution of Yeast and Mold Species Isolated from Clinical Specimens at 12 Hospitals in Korea during 2011 / 대한임상미생물학회지

BACKGROUND: The incidence of fungal infections varies among hospitals and between different time periods. We performed a nationwide survey in Korea to investigate the distribution of yeast and mold species recovered from clinical specimens. METHODS: The distributions of clinical isolates of yeast and mold species obtained from 12 university hospitals between January and December 2011 were evaluated relative to the hospital and specimen type. RESULTS: A total of 39,533 fungal isolates (37,847 yeast and 1,686 mold isolates) were obtained. C. albicans was the predominant species (49.4%) among the yeast isolates from all clinical specimens, followed by C. glabrata (7.2%) and C. tropicalis (6.5%). For 5,248 yeast isolates from sterile body fluids, blood was the most common source of yeasts (71.1%), followed by peritoneal fluid (9.4%). Although C. albicans was the predominant species at all but two hospitals, the rate of non-albicans Candida species varied from 71.2% to 40.1%, depending on the hospital. The yeast species recovered most frequently from the sterile body fluids was C. albicans (41.7%), followed by C. parapsilosis (17.8%) and C. glabrata (14.4%), while that from non-sterile sites was C. albicans (50.7%), followed by C. glabrata (6.0%) and C. tropicalis (5.5%). For mold-forming fungi, Aspergillus species (62.3%) were most common, followed by Trichophyton species (15.4%). Respiratory specimens were the most common source of molds (39.6%), followed by abscesses/wounds (28.4%) and tissues (17.5%). CONCLUSION: The rank order of distribution for different fungal species varied among hospitals and specimen types. Continual national surveillance programs are essential for identifying possible changes in fungal infection patterns.

Elecsys Hepatitis B Surface Antigen Quantitative Assay: Performance Evaluation and Correlation with Hepatitis B Virus DNA during 96 Weeks of Follow-up in Chronic Hepatitis B Patients

BACKGROUND: Treatment for chronic hepatitis B aims to suppress virus replication and virus sequestration in hepatocytes. Covalently closed circular (ccc) DNA is the template for transcription of viral genes and is responsible for viral persistence. However, limited data are available for quantification of hepatitis B surface antigen (HBsAg) in Korea. METHODS: We evaluated the Elecsys HBsAg II quant assay (Roche Diagnostics, USA) for within-run, between-run, and between-day precisions, linearity, carryover, and clinical specificity. In total, 156 serum samples were evaluated for correlation between HBsAg and hepatitis B virus (HBV) DNA. Serial samples were obtained from 10 patients at 0, 12, 24, 48, 72, and 96 weeks during follow-up. RESULTS: The assay detected HBsAg in a linear range of 0.5-48,696 IU/mL. Within-run, between-run, and between-day CVs were 2.9-4.1%, 0-1.5%, and 1.5-4.9%, respectively. Cross-reactivity between potentially interfering substances was absent, and the carryover rate was 0.00002%. The correlation of measurements between the Elecsys assay and HBV DNA PCR was weak (r=0.438, P=0.002). For predicting virologic response, cutoff values of 10,275 IU/mL and 3,846 IU/mL at 12 and 24 weeks after treatment initiation showed positive predictive values of 77.1% and 85% and negative predictive values of 84.6% and 50%, respectively. CONCLUSIONS: The Elecsys HBsAg II quant assay showed good performance for precision, linearity, carryover rate, and specificity. HBsAg level at baseline, 12 weeks, and 24 weeks after treatment initiation can predict virologic response, and the assay can be used for HBsAg quantification in clinical practice.

Comparison of Knowledge Levels Required for SNOMED CT Coding of Diagnosis and Operation Names in Clinical Records / 대한의료정보학회지

OBJECTIVES: Coding Systematized Nomenclature of Medicine, Clinical Terms (SNOMED CT) with complex and polysemy clinical terms may ask coder to have a high level of knowledge of clinical domains, but with simpler clinical terms, coding may require only simpler knowledge. However, there are few studies quantitatively showing the relation between domain knowledge and coding ability. So, we tried to show the relationship between those two areas. METHODS: We extracted diagnosis and operation names from electronic medical records of a university hospital for 500 ophthalmology and 500 neurosurgery patients. The coding process involved one ophthalmologist, one neurosurgeon, and one medical record technician who had no experience of SNOMED coding, without limitation to accessing of data for coding. The coding results and domain knowledge were compared. RESULTS: 705 and 576 diagnoses, and 500 and 629 operation names from ophthalmology and neurosurgery, were enrolled, respectively. The physicians showed higher performance in coding than in MRT for all domains; all specialist physicians showed the highest performance in domains of their own departments. All three coders showed statistically better coding rates in diagnosis than in operation names (p < 0.001). CONCLUSIONS: Performance of SNOMED coding with clinical terms is strongly related to the knowledge level of the domain and the complexity of the clinical terms. Physicians who generate clinical data can be the best potential candidates as excellent coders from the aspect of coding performance.

Plasma Exchange for Patients with Thrombotic Thrombocytopenic Purpura-Hemolytic Uremic Syndrome (TTP-HUS) in Pusan National University Hospital (2003~2011) / 대한수혈학회지

BACKGROUND: Thrombotic thrombocytopenic purpura (TTP) and hemolytic uremic syndrome (HUS) are related diseases with high rates of fatality. Plasma exchange therapy improves survival rates in patients with TTP and HUS. The aim of this study is to evaluate our experience in conduct of plasma exchange procedures for treatment of patients with TTP-HUS over the past nine years, and to identify risk factors for poor response to this treatment. METHODS: Between January 2003 and August 2011, 230 plasma exchange procedures were performed for treatment of 22 TTP-HUS patients at Pusan National University Hospital. We conducted a retrospective analysis of data from clinical records and plasma exchange records for these patients. RESULTS: Fourteen female patients and eight male patients were included in the study. The majority of patients (86%) had neurologic symptoms; and 41% of patients had a fever. Eight patients presented with an additional disorder; three patients presented with Systemic Lupus Erythematosus. The mean number of plasma exchange procedures was 10.5 per patient. The overall rate of mortality following plasma exchange therapy was 27% and relapse was observed in only one patient. Rate of mortality varied with different comorbid diseases. Female patients and patients who underwent fewer plasma exchange procedures tended to be unresponsive to plasma exchange therapy, but the results are not statistically significant. Aggressive treatment involving two plasma exchange procedures within 24 hours of diagnosis and choice of any replacement fluid did not show an association with improved mortality. CONCLUSION: No association of the factors analyzed with mortality rate and responsiveness to plasma exchange was observed.

Lung Abscess and Bacteremia Caused by Neisseria flavescens and Streptococcus sanguis in Patient with Idiopathic Hypereosinophilic Syndrome / 대한임상미생물학회지

Neisseria flavescens has been rarely reported as a pathogen in the literature. We experienced a case of N. flavescens bacteremia and lung abscess co-infected with Streptococcus sanguis in patient with idiopathic hypereosinophilic syndrome. A 15-year-old boy was diagnosed with idiopathic hypereosinophilic syndrome complicated with pulmonary thromboembolism. He was given systemic steroids and thrombolytics. After 8 weeks of therapy, a lung abscess appeared on the plain chest radiograph. We treated him with empirical antibiotics and carried out surgical drainage. Two types of microorganisms were cultured from both blood and pus samples, obtained in the first day of hospitalization. Pus was aspirated from the lung abscess with an aseptic technique. Neisseria species and S. sanguis were identified using traditional methods. To confirm the identity of the Neisseria species, we conducted further testing using 16S ribosomal ribonucleic acid sequencing whereupon N. flavescens was identified. This is the first case report of pulmonary infection caused by N. flavescens. We suggest that N. flavescens may act as a pathogen.

Cutoff Value of PB CD34+ Cells for Optimization of PBSC Collection / 대한수혈학회지

BACKGROUND: Peripheral hematopoietic stem cell mobilization is increasing due to its advantages. For successful engraftment, obtaining sufficient stem cells is prerequisite. The number of CD34+ cells of collected blood are widely used to predict the engraftment potential. To determine the optimal point for collection of peripheral blood stem cell (PBSC), enumeration of the number of CD34+ cells in peripheral blood (PB) is known to be helpful. The purpose of this study is to analyze cutoff value of CD34+ cells in PB. METHODS: We analyzed 407 cases of autologous PBSC collection and 107 cases of allogenic PBSC collection during 2004~2009 in Pusan National University Hospital. Complete blood count, HPC fraction and number, CD34+ cells in PB and product of PBSC collection were analyzed. RESULTS: The each number of mononuclear cells and HPC in PB showed a strong correlation with CD34+ cells in PB. A strong correlation between the number of circulation CD34+ cells in PB on the day of collection and the number of collected CD34+ cells was found. The ROC curve revealed that the cutoff point having the optimal sensitivity and specificity at 8.5/uL for target CD34+ cells > or =1.0x10(6)/kg, 10.5/uL for target CD34+ cells > or =1.5x10(6)/kg and 13.5/uL for target CD34+ cells > or =2.0x10(6)/kg in this study. CONCLUSION: To obtain a sufficient yield of CD34+ cells during PBSC collection, determination of cut off point for each target CD34+ cells//kg is helpful to decide the collection.

Nasal Colonization Rate of Methicillin Resistant Staphylococcus Aureus among Age Group of Spinal Fusion Surgery

OBJECTIVE: Methicillin resistant Staphylococcus aureus (MRSA) is the most common cause of postoperative infection in instrumented fusion surgery. Although MRSA is well-known cause of nosocomial infection, emerging evidence supports that there could be MRSA infection from community. This study evaluated the nasal colonization rate of MRSA among healthy adults within the age range of spinal fusion surgery in Korea. METHODS: Nasal swabs were collected from 99 participants who visited health promotion center. A structured questionnaire regarding healthcare-associated MRSA risk factors was collected simultaneously. Staphylococcus aureus was confirmed by latex agglutination. The resistance to methicillin was identified by oxacillin screening test. RESULTS: Of the 99 participants, 12 (12.1%) had S. aureus isolates. The nasal carriage rate of methicillin susceptible S. aureus (MSSA) was 9 (9.1%). MRSA was identified in 3 participants (3.0%). CONCLUSION: Among the age range of possible spinal fusion surgery, nasal colonization study revealed substantial rate of preoperative MRSA carriers even in healthy adults. A postoperative MRSA infection should not be exclusively considered to be due to surgery-related contamination.

Level of HOXA5 Hypermethylation in Acute Myeloid Leukemia is Associated with Short-term Outcome / 대한진단검사의학회지

Hypermethylation of the homeobox (HOX) gene promoter leads to decreased expression of the gene during tumor development and is thought to be correlated with the clinical outcome in leukemia. In this study, we performed pyrosequencing to quantify the methylation level of HOXA5 genes in the bone marrow samples obtained from 50 patients with AML and 19 normal controls. The methylation percentage of HOXA5 in AML patients (median=65.4%, interquartile range=35.9-72.3%) was higher than that of HOXA5 in control patients (median=43.1%, interquartile range=36.7-49.6%, Mann-Whitney U test, P=0.012). The patients of the AML group who had a high methylation percentage (>70%) had a good prognosis with a 3-yr overall survival (OS) of 82.5%, whereas the patients with a low methylation percentage (< or =70%) showed a 3-yr OS of 40.5% (P=0.048). Cox proportional hazards regression showed that the methylation percentages of HOXA5 were independently associated with the 3-yr OS of AML patients, regardless of their karyotypes. We propose that the quantification of HOXA5 methylation by pyrosequencing may be useful for predicting short-term prognosis in AML. However, the limitations of our study are the small sample size and its preliminary nature. Thus, a larger study should be performed to clearly determine the relationships among HOXA5 methylation levels, cytogenetics, and prognosis in AML patients.

An Improved Auto-Generation System to Obtain Reference Intervals for Laboratory Medicine / 대한의료정보학회지

OBJECTIVES: Reference values are highly required parameters for all tests in the clinical laboratory, and the supplementary provision of reliable reference intervals is an important task for both clinical laboratories and diagnostic test manufacturers. Despite the progress that has been made in the conceptual aspects of reference intervals, in practice their use is still not completely satisfactory. Most of the laboratories have used various methods to calculate statistic-based reference intervals, and they have mainly focused on extracted data, yet its use is considerably limited. We had to deal with the inconvenience of using a number of programs (SPSS or SAS, MS Excel) in order to calculate the results of reference intervals. METHODS: In order to obtain standardized reference intervals, we developed an integrated program that can calculate, by a nonparametric method, reference intervals with using the Clinical and Laboratory Standards Institute (CLSI) processes as its guideline. We also developed a grouping interface that enables users to customize classification of each group (age, gender, blood group, race, etc) when calculating reference intervals. RESULTS: To verify the developed program, we compared the reference intervals of the current data on 281 persons for 8 total areas, and the reference intervals were was already calculated beforehand with by using this new program. As a result, both results perfectly matched. CONCLUSIONS: This integrated program will be convenience for calculating reasonable values through continual datainspection at an inspection lab for calculating reference intervals. The newly developed program will improve the consistency and reliability of the statistics on reference intervals.

A Case of Congenital Central Hypoventilation Syndrome with PHOX2B Gene Mutation in a Korean Neonate

Congenital central hypoventilation syndrome (CCHS) is a life-threatening disorder with apnea and cyanosis during sleep requiring immediate endotracheal intubation during the first day of life. The PHOX2B gene has been identified as the major gene involved in CCHS. This is the first report of a Korean neonate with CCHS confirmed to have a PHOX2B mutation with expanded alleles containing 20 polyalanine repeats that is a relatively small number compared to previous cases. The patient required intermittent ventilator support during sleep only and did not suffer from any other disorders of the autonomic nerve system. He consistently needs ventilator support during sleep and remains alive. Analysis of PHOX2B gene is useful for diagnosis and appropriate therapeutic intervention of CCHS patients.