Cardiac and Muscular Pathology on Autopsy in a Man with Duchenne Muscular Dystrophy / 대한법의학회지

Duchenne muscular dystrophy (DMD) is a degenerative muscle disease characterized by a progressive decline in muscular function, with cardiomyopathy in the later stages. We report the autopsy findings of a 29-year-old man with DMD. He had been stable with the assistance of mechanical ventilation until he was found unconscious, without known cause. External examination confirmed generalized muscular atrophy and contracture consistent with his clinical history. Histopathology revealed varying degrees of fibrofatty changes in the muscles, with the calf muscles being the most extensively affected, followed by the diaphragm and heart. The cardiac muscle showed the least involvement and the pathology was confined to the left ventricular wall and the interventricular septum, exhibiting a unique morphology of fibrosis resembling stretched springs. The cause of death was attributed to cardiac failure due to DMD progression. This case highlights the clinical course of DMD, emphasizing the need for thorough examination of both skeletal and non-skeletal muscles, including the cardiac muscles, to obtain a better understanding of the disease.

Solitary Peutz-Jeghers type harmartomatous polyp in duodenum with gastric foveolar epithelium: a case report

Peutz-Jeghers type hamartomatous polyp is known to be associated with Peutz-Jeghers syndrome, which shows characteristic multiple hamartomatous polyp involvement in the gastrointestinal tract, combined with mucocutaneous symptom, familial history of Peutz- Jeghers syndrome or STK11/LTB1 mutation. However, some cases showing histologic appearance of the polyps discovered in Peutz- Jeghers syndrome while lacking other diagnostic criteria of the syndrome have been reported, and these are called solitary Peutz- Jeghers type polyps. Herein, we report a case of solitary Peutz-Jeghers type polyp covered with heterotopic epithelium. The patient was 47-year-old female without any mucocutaneous symptoms nor familial history of Peutz-Jeghers syndrome. Microscopic examination revealed Peutz-Jeghers type hamartomatous polyp in duodenum covered with gastric type foveolar epithelium. Considering the definition of hamartomatous polyp, which is, the abnormal overgrowth of the indigenous epithelial component, the histological feature of current case is noteworthy in a point that it shows proliferation of heterotopic component, rather than the indigenous component.

Accidental Sharp Force Fatality Caused by a Broken Glass Cup / 대한법의학회지

Most sharp force fatalities are attributed to homicide or suicide, with only a few accidental cases reported to date. Broken glass accounts for most of these accidental fatalities. We herein report an unusual accidental death caused by a broken glass cup. A 21-year-old woman was found dead on the floor of her studio apartment. The studio was a duplex consisting of one room and a bathroom, with a stepped drawer leading to the second floor. She was lying face down with her legs spread apart in a large pool of blood, surrounded by many pieces of broken glass. There was an oblique cut measuring 9 cm in length in the right sternocleidomastoid region just above the right clavicle. The surface of the cut wound showed irregular edges and the internal jugular vein was severed in the depth of the wound. She appeared to have fallen down the steps onto the ground floor and been fatally injured in the neck by a piece of broken glass.

Accidental Sharp Force Fatality Caused by a Broken Glass Cup / 대한법의학회지

Most sharp force fatalities are attributed to homicide or suicide, with only a few accidental cases reported to date. Broken glass accounts for most of these accidental fatalities. We herein report an unusual accidental death caused by a broken glass cup. A 21-year-old woman was found dead on the floor of her studio apartment. The studio was a duplex consisting of one room and a bathroom, with a stepped drawer leading to the second floor. She was lying face down with her legs spread apart in a large pool of blood, surrounded by many pieces of broken glass. There was an oblique cut measuring 9 cm in length in the right sternocleidomastoid region just above the right clavicle. The surface of the cut wound showed irregular edges and the internal jugular vein was severed in the depth of the wound. She appeared to have fallen down the steps onto the ground floor and been fatally injured in the neck by a piece of broken glass.

Successful Removal of Endobronchial Lipoma by Flexible Bronchoscopy Using Electrosurgical Snare / 결핵및호흡기질환

A 62-year-old man with a chronic cough presented with atelectasis of the left upper lobe on chest X-ray. Chest computed tomography showed an atelectasis in the left upper lobe with bronchial wall thickening, stenosis, dilatation, and mucoid impaction. We performed bronchoscopy and found a well-circumscribed mass on the left upper lobe bronchus. The mass was removed by flexible bronchoscopy using an electrosurgical snare and diagnosed with lipoma. An endobronchial lipoma is a rare benign tumor that can be treated by a surgical or endoscopic approach. We report the successful removal of endobronchial lipoma via flexible bronchoscopic electrosurgical snare.

Tracheal Stenosis after Tracheostomy Treated Successfully with Papillotome Electrocautery / 결핵및호흡기질환

A 39-year-old woman presented with symptoms of dyspnea. Ten years previously, she had received a tracheostomy because of the decision to not continue taking an anticonvulsant drug. Presently, chest computed tomography showed diffuse stenosis and focal web at the cervical trachea. We performed bronchoscopy and found a two-thirds reduction of the upper trachea due to the web-like fibrotic stenosis. Papillotome electrocautery removed the stenotic lesion. Endobronchial electrocautery is a valuable tool with potential for therapy of an endobronchial obstructing airway lesion. We report this case to introduce the successful treatment with papillotome electrocautery.

The Effect of Tissue Plasminogen Activator on TGF-beta1 Pre-Treated Human Mesothelial Cell Line / 결핵및호흡기질환

BACKGROUND: In an effort to find alternative therapeutic agents to prevent excessive fibrosis as a sequela to complicated parapneumonic effusion or empyema, we examined the effect of tissue plasminogen activator (tPA) as a fibrinolytic agent combined with talc or transforming growth factor (TGF)-beta1 in a human pleural mesothelial cell line, MeT-5A. METHODS: MeT-5A cells were stimulated with various doses of talc, doxycycline or TGF-beta1 for 24 h and then were treated with tPA for an additional 24 h. Cell viability was measured by MTT assay. The production of interleukin (IL)-8 and vascular endothelial growth factor (VEGF) in the culture supernatants was measured by ELISA. Real-time PCR was carried out for measurement of type I collagen mRNA. RESULTS: MeT-5A cells treated with talc showed a dose-dependent increase in production of IL-8. Talc also increased production of type I collagen mRNA at low doses, but talc did not influence the induction of VEGF. Addition of tPA to talc-stimulated cells showed further increases in the production of IL-8, but tPA did not influence the production of VEGF or type I collagen mRNA. TGF-beta1 increased the production of both VEGF and collagen type I mRNA, both of which were effectively inhibited by additional tPA treatment in MeT-5A cells. CONCLUSION: TGF-beta1 is a potent inducer of collagen synthesis without induction of IL-8 in MeT-5A cells. Addition of tPA after TGF-beta1 stimulation inhibited further fibrosis by direct inhibition of collagen mRNA synthesis as well as by inhibition of VEGF production.

MicroRNA-23a: A Novel Serum Based Diagnostic Biomarker for Lung Adenocarcinoma / 결핵및호흡기질환

BACKGROUND: MicroRNAs (miRNAs) have demonstrated their potential as biomarkers for lung cancer diagnosis. In recent years, miRNAs have been found in body fluids such as serum, plasma, urine and saliva. Circulating miRNAs are highly stable and resistant to RNase activity along with, extreme pH and temperatures in serum and plasma. In this study, we investigated serum miRNA profiles that can be used as a diagnostic biomarker of non-small cell lung cancer (NSCLC). METHODS: We compared the expression profile of miRNAs in the plasma of patients diagnosed with lung cancer using an miRNA microarray. The data from this assay were validated by quantitative real-time PCR (qRT-PCR). RESULTS: Six miRNAs were overexpressed and three miRNAs were underexpressed in both tissue and serum from squamous cell carcinoma (SCC) patients. Sixteen miRNAs were overexpressed and twenty two miRNAs were underexpressed in both tissue and serum from adenocarcinoma (AC) patients. Of the four miRNAs chosen for qRT-PCR analysis, the expression of miR-23a was consistent with microarray results from AC patients. Receiver operating characteristic (ROC) curve analyses were done and revealed that the level of serum miR-23a was a potential marker for discriminating AC patients from chronic obstructive pulmonary disease (COPD) patients. CONCLUSION: Although a small number of patients were examined, the results from our study suggest that serum miR-23a can be used in the diagnosis of AC.

MicroRNA Expression Profiles in Korean Non-Small Cell Lung Cancer / 결핵및호흡기질환

BACKGROUND: MicroRNAs (miRNAs) play an important role in the regulation of cell proliferation, apoptosis, development and differentiation. Several studies have shown that aberrant expression of miRNAs is involved in cancer development and progression by regulating the expression of proto-oncogenes or tumor suppressor genes. In this study, we investigated miRNA expression profiles in Korean patients with non-small cell lung cancer (NSCLC). METHODS: We performed miRNA microarray analysis containing 60~65 bp oligonucleotide probes representing human 318 miRNAs and validated the results of the microarray with Northern blot analysis or quantitative RT-PCR. Next, we examined the correlation between miRNA expression and the target gene transcriptional profile using a human whole-genome-expression microarray. RESULTS: We showed that 35 miRNAs were expressed differentially in the NSCLCs and corresponding non-malignant lung tissues. We showed that 35 miRNAs were expressed differentially in the NSCLCs and corresponding non-malignant lung tissues. Thirteen of the 35 differentially expressed miRNAs were newly identified in the present study. Of the 35 miRNAs, 2 (miR-371 and miR-210) were over-expressed in lung cancers, and 33 miRNAs, including miR-145, were under-expressed in lung cancers. miR-99b expression consistently showed a negative correlation with FGFR3 expression. CONCLUSION: Albeit a small number of patients were examined, these results suggest that miRNA expression profiles in Korean lung cancers may be somewhat different from the expression profiles reported on lung cancers in Western populations. The findings suggest that miR-99b might be a tumor suppressor through its up-regulation of FGFR3.

MicroRNA Expression Profiles in Korean Non-Small Cell Lung Cancer / 결핵및호흡기질환

BACKGROUND: MicroRNAs (miRNAs) play an important role in the regulation of cell proliferation, apoptosis, development and differentiation. Several studies have shown that aberrant expression of miRNAs is involved in cancer development and progression by regulating the expression of proto-oncogenes or tumor suppressor genes. In this study, we investigated miRNA expression profiles in Korean patients with non-small cell lung cancer (NSCLC). METHODS: We performed miRNA microarray analysis containing 60~65 bp oligonucleotide probes representing human 318 miRNAs and validated the results of the microarray with Northern blot analysis or quantitative RT-PCR. Next, we examined the correlation between miRNA expression and the target gene transcriptional profile using a human whole-genome-expression microarray. RESULTS: We showed that 35 miRNAs were expressed differentially in the NSCLCs and corresponding non-malignant lung tissues. We showed that 35 miRNAs were expressed differentially in the NSCLCs and corresponding non-malignant lung tissues. Thirteen of the 35 differentially expressed miRNAs were newly identified in the present study. Of the 35 miRNAs, 2 (miR-371 and miR-210) were over-expressed in lung cancers, and 33 miRNAs, including miR-145, were under-expressed in lung cancers. miR-99b expression consistently showed a negative correlation with FGFR3 expression. CONCLUSION: Albeit a small number of patients were examined, these results suggest that miRNA expression profiles in Korean lung cancers may be somewhat different from the expression profiles reported on lung cancers in Western populations. The findings suggest that miR-99b might be a tumor suppressor through its up-regulation of FGFR3.

Synchronous Roentgenographically Occult Lung Carcinoma Treated with Argon Plasma Coagulation in a Patient with Resectable Primary Lung Cancer / 결핵및호흡기질환

We treated synchronous double primary lung cancers, where one site resulted from CIS disease, with lobectomy and argon plasma coagulation (APC) in a patient who couldn't tolerate pneumonectomy, which resulted in a reduction of the extent of surgery. APC could be a reasonable alternative for CIS disease of lung in inoperable patients.

A Case of Double Primary Lung Cancer that was Diagnosed by Percutaneous Localization with using a Hook Wire

With the progress of computed tomography (CT), the detection of small pulmonary nodules has been increased. The conventional diagnostic modalities for tissue confirmation, such as bronchoscopic biopsy or transthoracic needle biopsy, may not be successful in some cases. Too small a nodule or the nodules located far from the pleural surface can be marked and localized with device preoperatively and then this tissue can be obtained surgically. CT-guided hook wire fixation is useful in marking pulmonary nodules and there are few complications with this procedure. We report here on a case of double primary lung cancer that was diagnosed by percutaneous localization with using a hook wire

A Case of Pneumatosis Intestinalis Induced by Chemotherapy in a Patient with Lung Cancer

Pneumatosis intestinalis is an uncommon condition that is characterized by the presence of gas within the bowel wall. We experienced a case of pneumatosis intestinalis after cession of chemotherapy and we herein report on this case. A 58-year old man was admitted to our hospital for the evaluation of incidentally recognized pneumatosis intestinalis. He was diagnosed as having non small cell lung cancer in August 2006 and he received radiation therapy for concomitant brain metastasis and SVC syndrome in September 2006. He achieved a partial response after completing 6 cycles of chemotherapy with gemcitabine and cisplatin. Newly enlarged lymph nodes were observed on the follow-up CT, and chemotherapy with paclitaxel and carboplatin was started in July 2007. Due to the lack of a response, the therapeutic regimen was switched to oral erlotinib. After 1 month of treatment, the follow-up CT for response evaluation revealed pneumatosis intestinalis in the ascending colon without any subjective symptoms such as fever or abdominal pain. The laboratory results were within the normal range except for a slight increase of leukocytes. He underwent right hemicolectomy, but he didn't survive his postoperative acute renal failure and pneumonia

Identification of DNA Methylation Markers for NSCLC Using Hpall-Mspl Methylation Microarray / 결핵및호흡기질환

BACKGROUND: Epigenetic alterations in certain genes are now known as at least important as genetic mutation in pathogenesis of cancer. Especially abnormal hypermethylation in or near promoter region of tumor suppressor genes (TSGs) are known to result in gene silencing and loss of gene function eventually. The authors tried to search for new lung cancer-specific TSGs which have CpG islands and HpaII sites, and are thought to be involved in carcinogenesis by epigenetic mechanism. METHODS: Tumor tissue and corresponding adjacent normal tissue were obtained from 10 patients who diagnosed with non small cell lung cancer (NSCLC) and underwent surgery in Konyang university hospital in 2005. Methylation profiles of promoter region of 21 genes in tumor tissue & non-tumor tissue were examined with HpaII-MspI methylation microarray (Methyl-Scan DNA chip(R), Genomic tree, Inc, South Korea). The rates of hypermethylation were compared in tumor and non-tumor group, and as a normal control, we obtained lung tissue from two young patients with pneumothorax during bullectomies, methylation profiles were examined in the same way. RESULTS: Among the 21 genes, 10 genes were commonly methylated in tumor, non-tumor, and control group. The 6 genes of APC, AR, RAR-b, HTR1B, EPHA3, and CFTR, among the rest of 11 genes were not methylated in control, and more frequently hypermethylated in tumor tissue than non-tumor tissue. CONCLUSION: In the present study, HTR1B, EPHA3, and CFTR are suggested as possible novel TSGs of NSCLC by epigenetic mechanism.

The Clinical Characteristics of Endobronchial Anthracofibrotic Pigmentation / 결핵및호흡기질환

OBJECTIVES: Endobronchial anthracofibrotic pigmentation, which presents as dark black or brown pigmentation mucosal changes of multiple bronchi combined with bronchial fibrosis and obstruction, is not a rare finding when performing diagnostic bronchoscopy for Koreans. This study was performed to define the clinical characteristics and to determine the association of these finding with the Korean life style and such other diseases as coal workers, pneumoconiosis or tuberculosis in the patients with anthracofibrotic pigmentation. METHODS: This retrospective analysis was conducted on 70 (5.2%) patients with endobronchial anthracofibrotic pigmentation, among a total of 1340 patients who underwent bronchoscopy. The distinctive clinical features, the personal life style, the past medical history, the histology and microbiology, the radiologic finding and the natures of the bronchoscopic lesions were analyzed. RESULTS: This mean age of the patients with anthracofibrotic pigmentation was 60.6+/-9.2 year old and the male to female ratio was 1:1.7. The common respiratory symptoms of these patients were coughing and sputum (81%, 57/70), and this was followed in order by dyspnea and hemoptysisir. The symptoms were not related with smoking and an occupational history such as being a coal worker and so on. Pneumonia was most common finding on the radiologic studies. On bronchoscopy, the right middle lobe bronchus was most commonly involved. The most common associated disease was tuberculosis, and 40 cases (57.1%) were diagnosed by AFB staining, TB PCR, bronchoscopic guided tissue biopsy and a past history of tuberculosis. Other diseases related with anthracotic pigmentation were hypertension, diabetes, COPD, lung cancer, pneumoconiosis and asthma. CONCLUSION: These results suggest that endobronchial anthracofibrotic pigmentation was mostly related with pulmonary tuberculosis rather than with coal- related disease. Endobronchial anthracofibrotic pigmentation was more prevalent in older age females in Korea.

A case of ARDS Overlooked Tsutstugamushi Disease that Presented as Simple Cutaneous Lesions / 결핵및호흡기질환

Tsutstugamushi disease is a major febrile disease that generally occurs in the fall in Korea with hemorrhagic fever with renal syndrome and leptospirosis. This disease is often accompanied by interstitial pneumonia, acute renal failure and liver failure. The causative agent, namely Orientia tsutsugamushi, is transmitted to humans through the bite of a laval trombiculid mite, which is commonly known as a chigger. A 78 year old man was admitted in October 2004 with intractable fever and a drowsy mentality. Two weeks earlier, he visited a private clinic complaining of a simple skin rash. He was treated with antihistamine and steroid, but his symptoms were aggravated and he was referred to our hospital. His physical examination and laboratory findings showed a septic shock status. The maculopapular rash had spread over his face, chest, abdomen and extremities. Eschar was observed in lower back area but it was too difficult to distinguish it from other skin rashes. His chest X-ray appeared as diffuse nodular patchy consolidations in the bilateral lung parenchyme. He was treated with a mechanical ventilator and doxycycline under th suspicion of Tsutstugamushi disease. However, he suffered multiorgan failure accompanied by acute respiratory distress syndrome, acute renal failure and acute hepatitis. He was treated in the intensive care unit for approximately 12 weeks and his general condition was recovered.

A Case of Parahilar Lymph Node Enlargement / 결핵및호흡기질환

Sarcoidosis, a multisystemic granulomatous disorder of unknown causes, which presents with bilateral hilar adenopathy, pulmonary infiltration, and cutaneous, ocular, bones, and nervous and reticuloendothelial systems involvement, commonly involves young adults of both sexes. Herein, the case of a 70-year-old male, with progressive hoarseness of two weeks' duration and mild dyspnea, is reported. A fiberoptic bronchoscopy, performed to investigate the hoarseness, revealed paralysis of the left vocal cord, but with no other local abnormality. Two nodules, as pathologic findings, showed noncaseating epithelioid cell granulomas. We note a rare case of sarcoidosis, with vocal cord palsy, in Korea.

Major Hemothorax Induced Hypovolemic Shock Fallowing Administration of Intrapleural Urokinase / 결핵및호흡기질환

Exudative pleural effusion can arise from pneumonia, tuberculosis, cancer, etc. Early drainage is needed for prevention of complications such as pleural fibrosis, thickening, bronchopleural fistulae and decline of lung function. Intrapleural Instillation of fibrinolytic enzymes has been used for 50years as an adjunct in the removal of fibrous material, hematoma and pus from the thoracic cavity. By the local fibrinolytic effect on fibrinous exudates within the pleural space, fibrinolytic agent has improved results of chest tube or pig tail drainage. But there were no controlled randomized studies, so significant controversy exists concerning the efficacy of this therpy, especially tuberculous pleurisy. Furthermore about complication, severe spontaneous bleeding has not been reported with intrapleural urokinase. Intrapleural fibrinolytic enzymes has shows no systemic complication. When it is administrated intravenously, not into intrpleural space, major bleeding is reported about 1-3% of patient, especially they had systemic disease, such as coagulation abnormalities. This case report presents a patient who suffered major hemothorax induced hypovolemic shock following the administration of 100,000 units of urokinase intrapleurally. He was 25-year old male with tuberculosis pleurisy without systemic illness demonstraion.

A case report of metachronous triple primary cancers including stomach, bladder and lung / 대한내과학회지

Multiple primary cancer is a state of disease that developed more than two cancers in an individual, independently. Multiple primary malignant cancer is divided to synchronous and metachronous type depending on the interval between their diagnoses. Synchronous multiple cancer is diagnosed within an interval of six months and metachronous multiple cancer more than six months interval. As further advance in diagnostic techniques and treatment method bring about progressive increase in the number of individuals living in the 'cancer age' group. So, the population of patients with subsequent primary cancer will increase and after all the incidence of multiple primary cancer will be increased, gradually. Herein, we experienced a case of a 83-year-old male patient with metachronous triple primary cancer composed of gastric cancer, bladder cancer and lung cancer. We found the adenocarcinoma of stomach, transitional cell cancer of bladder and squamous cell carcinoma of lung. For its great rarity, we report this case with review of literatures about the history, criteria, incidence, site relationship and so on.

A case of aspergillosis within pulmonary sequestration diagnosed by MDCT / 대한내과학회지

The bronchopulmonary sequestration is a rare congenital malformation of the lung, concerning about the abnormal feeding systemic artery, needed for invasive angiography for definite diagnosis. This case report is described that patient diagnosed by multi-detectional computed tomography (MDCT) without angiography and combined with aspergillosis within an intralobar seqestration. He was 43-year old male patient with left submandibular mass. On chest PA, abnormal cystic lesion was shown in left lower lung field. There were multiple cysts with internal air-fluid level in left lower lobe on computed tomography. By useing MDCT, we could reconstruct internal structures and feeding artery, arising from thoracic aorta. We could confirm the intralobar bronchopulmonary sequestration. Lobectomy of the left lower lobe was done. On histologic finding, there was intralobar type pulmonary seqestration with chronic inflammation with hyphae of aspergillus species focally.