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1.  A Trp33Arg Mutation at Exon 1 of the MYH9 Gene in a Korean Patient with May-Hegglin Anomaly 
Yonsei Medical Journal  2012;53(3):662-666.
In this report, we describe a Korean patient with May-Hegglin anomaly from a mutation of the MYH9 gene. The proband was a 21-year-old man with thrombocytopenia. He did not have a bleeding tendency. His neutrophil count was normal at 7490/mm3; however, the neutrophils contained abnormal basophilic inclusions in their cytoplasm. The platelet count was decreased at 15000/mm3 with giant platelets. Coagulation test results were not remarkable. Direct sequencing of MYH9 revealed that he was heterozygous for a mutation in exon 1, which was a 97T>A substitution mutation affecting codon 33, substituting tryptophan with arginine (Trp33Arg). Family study showed that both of his parents had normal phenotype and genotypes, indicating a de novo occurrence of the mutation in the proband.
doi:10.3349/ymj.2012.53.3.662
PMCID: PMC3343441  PMID: 22477015
May-Hegglin anomaly; MYH9; thrombocytopenia; Korean
2.  Endobronchial Aspergilloma: Report of 10 Cases and Literature Review 
Yonsei Medical Journal  2011;52(5):787-792.
Purpose
A retrospective investigation of the clinical and radiologic features as well as the bronchoscopic appearance was carried out in patients with endobronchial aspergilloma.
Materials and Methods
Ten patients with endobronchial aspergilloma diagnosed by bronchoscopy and histological examination were identified at the Gyeongsang University Hospital of Korea, from May 2003 to May 2009.
Results
The patients included 9 men and 1 woman, and the age of the patients ranged from 36 to 76 (median, 58 years). The associated diseases or conditions were: previous pulmonary tuberculosis in 7 patients, lung cancer in 2 patients, pulmonary resection in 1 patient, and foreign body of the bronchus in 1 patient. The chest radiologic finding showed fibrotic changes as a consequence of previous tuberculosis infection in 6 patients and a mass-like lesion in 2 patients. Two patients had a co-existing fungus ball, and an endobronchial lesion was suspected in only 2 patients on the CT scan. The bronchoscopic appearance was a whitish to yellow necrotic mass causing bronchial obstruction in 7 patients, foreign body with adjacent granulation tissue and whitish necrotic tissue in 1 patient, whitish necrotic tissue at an anastomosis site in 1 patient, and a protruding mass with whitish necrotic tissue in 1 patient.
Conclusion
An endobronchial aspergilloma is a rare presentation of pulmonary aspergilosis and is usually incidentally found in immunocompetent patients with underlying lung disease. It usually appears as a necrotic mass causing bronchial obstruction on bronchoscopy and can be confirmed by biopsy.
doi:10.3349/ymj.2011.52.5.787
PMCID: PMC3159936  PMID: 21786444
Endobronchial aspergilloma
3.  Variation of the Infrahyoid Muscle: Duplicated Omohyoid and Appearance of the Levator Glandulae Thyroideae Muscles 
Yonsei Medical Journal  2010;51(6):984-986.
The embryologic origin of the omohyoid muscle is different from that of the other neck muscles. A number of variations such as the absence of muscle, variable sites of origin and insertion, and multiple bellies have been reported. However, variations in the inferior belly of the omohyoid muscle are rare. There have been no reports of the combined occurrence of the omohyoid muscle variation with the appearance of the levator glandulase thyroideae muscle. Routine dissection of a 51-year-old female cadaver revealed a duplicated omohyoid muscle and the appearance of the levator glandulae thyroideae muscle. In this case, the two inferior bellies of the omohyoid muscle were found to originate inferiorly from the superior border of the scapula. One of the inferior bellies generally continued to the superior belly with the tendinous intersection. The other inferior belly continued into the sternohyoid muscle without the tendinous intersection. In this case, the levator glandulae thyroideae muscle appeared on the left side, which attached from the upper border of the thyroid gland to the inferior border of the thyroid cartilage. These variations are significant for clinicians during endoscopic diagnosis and surgery because of the arterial and nervous damage due to iatrogenic injuries. The embryologic origins of the omohyoid and levator glandulae thyroideae muscles may be similar based on the descriptions in the relevant literature.
doi:10.3349/ymj.2010.51.6.984
PMCID: PMC2995959  PMID: 20879073
Variation; omohyoid muscle; levator glandulae thyroideae muscle; infrahyoid muscle
4.  Pulsed Electromagnetic Field Stimulates Cellular Proliferation in Human Intervertebral Disc Cells 
Yonsei Medical Journal  2010;51(6):954-959.
Purpose
The purpose of this study is to investigate the mechanism of cellular proliferation of electromagnetic field (EMF) on human intervertebral disc (IVD) cells.
Materials and Methods
Human IVD cells were cultured three-dimensionally in alginate beads. EMF was exposed to IVD cells with 650Ω, 1.8 millitesla magnetic flux density, 60 Hz sinusoidal wave. Cultures were divided into a control and EMF group. Cytotoxicity, DNA synthesis and proteoglycan synthesis were measured by MTT assay, [3H]-thymidine, and [35S]-sulfate incorporation. To detect phenotypical expression, reverse transcription-polymerase chain reactions (RT-PCR) were performed for aggrecan, collagen type I, and type II mRNA expression. To assess action mechanism of EMF, IVD cells were exposed to EMF with NG-Monomethyl-L-arginine (NMMA) and acetylsalicylic acid (ASA).
Results
There was no cytotoxicity in IVD cells with the EMF group in MTT assay. Cellular proliferation was observed in the EMF group (p < 0.05). There was no difference in newly synthesized proteoglycan normalized by DNA synthesis between the EMF group and the control. Cultures with EMF showed no significant change in the expression of aggrecan, type I, and type II collagen mRNA compared to the control group. Cultures with NMMA (blocker of nitric oxide) or ASA (blocker of prostaglandin E2) exposed to EMF demonstrated decreased DNA synthesis compared to control cultures without NMMA or ASA (p < 0.05).
Conclusion
EMF stimulated DNA synthesis in human IVD cells while no significant effect on proteoglycan synthesis and chondrogenic phenotype expressions. DNA synthesis was partially mediated by nitric oxide and prostaglandin E2. EMF can be utilized to stimulate proliferation of IVD cells, which may provide efficient cell amplification in cell therapy to degenerative disc disease.
doi:10.3349/ymj.2010.51.6.954
PMCID: PMC2995961  PMID: 20879066
Electromagnetic fields; intervertebral disc; nitric oxide; prostaglandin E2
5.  Analysis of Hospital Disaster in South Korea from 1990 to 2008 
Yonsei Medical Journal  2010;51(6):965-970.
Purpose
The purpose of this study is to systematically review and analyze disasters involving South Korean hospitals from 1990 and to introduce a newly developed implement to manage patients' evacuation.
Materials and Methods
We searched for studies reporting disaster preparedness and hospital injuries in South Korean hospitals from 1990 to 2008, by using the Korean Studies Information Service System (KISS, copyright Korean Studies Information Co, Ltd, Seoul, Korea) and, simultaneously, hospital injuries which were reported and regarded as a disaster. Then, each study and injury were analyzed.
Results
Five studies (3 on prevention and structure, 1 on implement of new device, and 1 on basic supplement to current methods) and 8 injuries were found within this period. During the evacuations, the mean gait speed of walking patients was 0.82 m/s and the mean time of evacuation of individual patients was 38.39 seconds. Regarding structure evaluation, almost all hospitals had no balconies in patient rooms; hospital elevators were placed peripherally and were insufficient in number. As a new device, Savingsun (evacuation elevator) was introduced and had some merits as a fast and easy tool, regardless of patient status or the height of hospital.
Conclusion
In South Korea, preparation for hospital disasters was noted to be insufficient but has involved various departments such as architectural, clinical, and building operations. In addition, Savignsun has been shown to effectively evacuate and save patients in a hospital disaster.
doi:10.3349/ymj.2010.51.6.965
PMCID: PMC2995976  PMID: 20879068
Injury; disaster; hospital; preparedness
6.  Comparison of Surgical Outcomes in Thoracolumbar Fractures Operated with Posterior Constructs Having Varying Fixation Length with Selective Anterior Fusion 
Yonsei Medical Journal  2009;50(4):546-554.
Purpose
Surgical treatment in the case of thoracolumbar burst fractures is very controversial. Posterior instrumentation is most frequently used, however, but the number of levels to be instrumented still remains a matter of debate.
Materials and Methods
A total of 94 patients who had a single burst fracture between T11 and L2 were selected and were managed using posterior instrumentation with anterior fusion when necessary. They were divided into three groups as follows; Group I (n = 28) included patients who were operated by intermediate segment fixation, Group II (n = 32) included patients operated by long segment fixation, and Group III (n = 34) included those operated by intermediate segment fixation with a pair of additional screws in the fractured vertebra. The mean follow-up period was twenty one months. The outcomes were analyzed in terms of kyphosis angle (KA), regional kyphosis angle (RA), sagittal index (SI), anterior height compression rate, Frankel classification, and Oswestry Disability Index questionnaire.
Results
In Groups II and III, the correction values of KA, RA, and SI were much better than in Group I. At the final follow up, the correction values of KA (6.3 and 12.1, respectively) and SI (6.2 and 12.0, respectively) were in Groups II and III found to be better in the latter.
Conclusion
The intermediate segment fixation with an additional pair of screws at the fracture level vertebra gives results that are comparable or even better than long segment fixation and gives an advantage of preserving an extra mobile segment.
doi:10.3349/ymj.2009.50.4.546
PMCID: PMC2730618  PMID: 19718404
Thoracolumbar burst fracture; posterior instrumentation; intermediate segment fixation; fixation length; selective anterior fusion
7.  Umbilical Artery Doppler Study as a Predictive Marker of Perinatal Outcome in Preterm Small for Gestational Age Infants 
Yonsei Medical Journal  2009;50(1):39-44.
Purpose
To evaluate the merit of umbilical artery Doppler study as a predictive marker of perinatal outcome in preterm small for gestational age (SGA) infants.
Materials and Methods
A total of 218 patients at 27 - 36 weeks of gestational age (GA) who received antenatal umbilical artery Doppler velocimetry and delivered singleton infants with SGA. The ratio of peak-systolic to end-diastolic blood flow velocities (S/D) in the umbilical artery was measured in each patient. The patients were divided into 3 groups: the normal group with S/D ratios of less than 95th percentile (n = 134), elevated S/D ratio group of 95th or more percentile (n = 41), and those with absent/reversed end diastolic flow (n = 43). Maternal characteristics and neonatal outcomes of these groups were comparatively analyzed.
Results
The gestational age (GA) at the time of diagnosis of SGA, the mean GA at delivery, and the mean birth weight showed statistically significant difference among three groups (p < 0.001). Also, poor perinatal outcome was significantly increased in infants with abnormal S/D ratio (13.4% vs. 31.7% vs. 67.4%, p < 0.001). Multivariate logistic regression analysis revealed umbilical artery Doppler study as a significant independent factor for prediction of poor perinatal outcome (odds ratio: 3.7, 95% confidence interval 1.4 - 9.5, p = 0.007).
Conclusion
Antenatal umbilical artery Doppler velocimetry is shown as a significantly efficient marker in predicting perinatal outcome in preterm SGA infants.
doi:10.3349/ymj.2009.50.1.39
PMCID: PMC2649859  PMID: 19259346
Preterm small for gestational age infant; umbilical artery Doppler velocimetry; perinatal outcome
8.  Gastric Schwannoma 
Yonsei Medical Journal  2008;49(6):1052-1054.
Schwannomas, also known as neurinomas or neurilemmomas, are generally benign, slow-growing neoplasms originating in any nerve that has a Schwann cell sheath. These neoplasms are rare among the spindle cell mesenchymal tumors of the gastrointestinal tract, but develop most commonly in the stomach representing 0.2% of all gastric tumors. We present the case of a 57-year-old female patient with a large schwannoma in the stomach that was palpable in the abdomen. She underwent subtotal gastrectomy under suspicion of gastrointestinal stromal tumor (GIST), but post-operative histopathological and immunohistochemical findings showed a fascicular arrangement of spindle cell with pallisading nuclei, and positive for S-100 protein with negative smooth muscle actin (SMA). These results confirmed schwannoma as the diagnosis.
doi:10.3349/ymj.2008.49.6.1052
PMCID: PMC2628015  PMID: 19108033
Schwannoma; stomach; submucosal tumor; S-100 protein
9.  Endobronchial Tuberculosis Presenting as Right Middle Lobe Syndrome: Clinical Characteristics and Bronchoscopic Findings in 22 Cases 
Yonsei Medical Journal  2008;49(4):615-619.
Purpose
Endobronchial tuberculosis (EBTB) presenting as right middle lobe syndrome (RMLS) is an uncommon clinical condition. We investigated the clinical characteristics in patients with EBTB presenting as RMLS.
Patients and Methods
We retrospectively reviewed the records of 22 patients with EBTB presenting as RMLS who were diagnosed at our hospital from 2003 to 2006.
Results
Its occurrence was more common in females than males (F, 18; M, 4). The mean age was 70.3 ± 8.5 years, and 17 patients were above the age of 65 years. Cough with sputum was the most common manifestation and 2 patients were asymptomatic. In bronchoscopic analysis, the most common finding was edematous-type EBTB, which was found in 15 patients, followed by actively caseating type in 6 and tumorous type in 1. Acid-fast bacilli (AFB) staining for bronchial washing fluid was positive in only 5 patients: 1 with edematous type and 4 with actively caseating type. Bronchoscopic biopsy showed chronic granulomatous inflammation in 16 patients. Follow-up chest X-ray after treatment showed complete disappearance of the lesion in 2 patients, more than 50% improvement in 5, less than 50% improvement in 5, and no change of lesion in 4.
Conclusion
Edematous-type EBTB was the most common type of EBTB presenting as RMLS, and it usually occurred in elderly patients. Culturing for mycobacterium and histologic examination by bronchoscopy are necessary for proper diagnosis in these patients.
doi:10.3349/ymj.2008.49.4.615
PMCID: PMC2615288  PMID: 18729304
Endobronchial tuberculosis; right middle lobe syndrome
10.  Rituximab-CHOP Induced Interstitial Pneumonitis in Patients with Disseminated Extranodal Marginal Zone B Cell Lymphoma 
Yonsei Medical Journal  2008;49(1):155-158.
A 69-year-old male was diagnosed in February 2004 with stage IV extranodal marginal zone B cell lymphoma involving the mediastinal nodes, lung parenchyma and bone marrow with high LDH. Shortness of breath developed following the 5th course of Rituximab-CHOP chemotherapy (cyclophosphamide, Vincristine, Doxorubicin, Prednisolone). Bronchoscopy guided transbronchial lung biopsy revealed interstitial thickening and type II pneumocyte activation, compatible with interstitial pneumonitis. After treatment with prednisolone a complete resolution of the dyspnea was observed. The patient was well on routine follow-up at the outpatient clinic, with no progression of lymphoma or interstitial pneumonitis.
doi:10.3349/ymj.2008.49.1.155
PMCID: PMC2615269  PMID: 18306483
Interstitial pneumonitis; rituximab; lymphoma
11.  Determination of Urinary Myo-/Chiro-Inositol Ratios from Korean Diabetes Patients 
Yonsei Medical Journal  2005;46(4):532-538.
Of two major forms (myo- and chiro-inositol) of inositols, only chiro-inositol enhances the activity of proteins involved in intracellular glucose metabolism. This study aims to determine the urinary myo-/chiro-inositol ratio in type 1 and type 2 diabetes patients and compare its ratio with the normal control group. The 24-hour urinary myo- and chiro-inositols in 71 Korean diabetes patients and 39 control subjects have been quantified using high-performance liquid chromatography, and their ratios have been evaluated as indices of insulin resistance. The level of 24-hour urinary myo-inositol was significantly higher in both type 1 and type 2 diabetes than with the control group, whereas the urinary chiro-inositol in type 1 or type 2 diabetes was lower than that in normal subjects. The myo-/chiro-inositol ratio in diabetes patients was higher than that in the control group. Twenty four-hour urinary myo-/chiro-inositol ratios were significantly elevated in type 1 and type 2 diabetes patients compared to the control group, suggesting that a high ratio of urinary myo-/chiro-inositol in type 2 diabetes patients might be used for an index of insulin resistance.
doi:10.3349/ymj.2005.46.4.532
PMCID: PMC2815839  PMID: 16127779
Myo-inositol; chiro-inositol; inositol; insulin resistance; diabetes mellitus

Results 1-11 (11)