Hyperplastic Polyposis Syndrome Identified with a BRAF Mutation

Hyperplastic polyposis syndrome (HPS) is a rare condition characterized by the presence of numerous hyperplastic polyps (HPs) in the colon and rectum. Patients with HPS have an increased risk of colorectal cancer. This link is associated with gene mutations, especially B type Raf kinase (BRAF). However, a case of HPS associated with gene mutations has seldom been reported in Korea. Here, we describe a case of HPS in which a BRAF mutation was present in a 34-year-old woman. She had more than 110 HPs in the stomach and colorectum, which we removed. All of the polyps were diagnosed histologically as HPs, and no adenomatous or malignant changes were noted. We performed a BRAF and K-ras mutation analysis as well as a microsatellite analysis on the resected colon polyps. BRAF mutations were found in the resected colon polyps, but there was no evidence of K-RAS mutation or microsatellite instability.

Correlation of Narrow Band Imaging with Magnifying Colonoscopy and Histology in Colorectal Tumors

BACKGROUND/AIMS: Narrow band imaging (NBI) is a new technique that uses optical filters for imaging of mucosal morphology. The aim of this study was to correlate findings of NBI with magnifying colonoscopy and histology for prediction of neoplastic colorectal lesion. METHODS: Between September 2005 and December 2007, 107 colon polyps from 68 patients were detected by conventional colonoscopy and subsequently evaluated by NBI with magnifying colonoscopy and analyzed for a pit pattern and a capillary pattern. More analysis was done regarding thickness and irregularity of capillary features. RESULTS: Pit pattern with NBI magnification to discriminate between neoplastic and non-neoplastic lesions had a sensitivity of 88.9% and a specificity of 87.5%; capillary pattern yielded test performance characteristics of 91.9% and 87.5%. In respect of capillary thickness, invisible capillaries were found significantly more often in hyperplastic lesions. All thick capillaries were found in neoplastic polyps, and found significantly more often in carcinomas with submucosal massive invasion (sm-m) (p<0.01). In respect of capillary irregularity, invisible capillaries were found significantly more often in hyperplasic lesions, and severely irregular capillaries were found significantly more often in sm-m lesions (p<0.01). CONCLUSIONS: Observation of capillary thickness and irregularity by NBI magnification is useful for correlating histological grade with carcinoma, especially with depth of submucosal invasion.

Correlation of Narrow Band Imaging with Magnifying Colonoscopy and Histology in Colorectal Tumors

BACKGROUND/AIMS: Narrow band imaging (NBI) is a new technique that uses optical filters for imaging of mucosal morphology. The aim of this study was to correlate findings of NBI with magnifying colonoscopy and histology for prediction of neoplastic colorectal lesion. METHODS: Between September 2005 and December 2007, 107 colon polyps from 68 patients were detected by conventional colonoscopy and subsequently evaluated by NBI with magnifying colonoscopy and analyzed for a pit pattern and a capillary pattern. More analysis was done regarding thickness and irregularity of capillary features. RESULTS: Pit pattern with NBI magnification to discriminate between neoplastic and non-neoplastic lesions had a sensitivity of 88.9% and a specificity of 87.5%; capillary pattern yielded test performance characteristics of 91.9% and 87.5%. In respect of capillary thickness, invisible capillaries were found significantly more often in hyperplastic lesions. All thick capillaries were found in neoplastic polyps, and found significantly more often in carcinomas with submucosal massive invasion (sm-m) (p<0.01). In respect of capillary irregularity, invisible capillaries were found significantly more often in hyperplasic lesions, and severely irregular capillaries were found significantly more often in sm-m lesions (p<0.01). CONCLUSIONS: Observation of capillary thickness and irregularity by NBI magnification is useful for correlating histological grade with carcinoma, especially with depth of submucosal invasion.

An Unusual Type of Hypertrophic Cardiomyopathy

An unusual type of hypertrophic cardiomyopathy was diagnosed in a 17-year-old girl who presented with dyspnea on exertion. The hypertrophied myocardium was localized to the anterior portion of the left ventricle from the base to the apex without left ventricular outflow tract obstruction. On cardiac magnetic resonance imaging (MRI), patchy and linear delayed hyperenhancement was shown in the anterior and inferior mid-wall, which is not concordant with the coronary artery territory.

Recurrence of thyroid tuberculosis after complete treatment of lymph node tuberculosis / 대한내과학회지

Thyroid tuberculosis is rare, and primary tuberculosis is extremely rare. In most cases, thyroid tuberculosis presents as a thyroid nodule, thyroiditis, thyroid abscess, or thyroid cancer, and is often diagnosed after thyroidectomy. We experienced a case of thyroid tuberculosis that presented as a palpable thyroid nodule in a 32-year-old female patient. The patient had been previously diagnosed with cervical tuberculous lymphadenitis and had been treated successfully 6 years ago. Fine needle aspiration of the thyroid gland showed a small number of neutrophils and macrophages in a necrotic background, and many acid-fast bacilli were found with AFB staining. The patient began anti-tuberculosis therapy as an outpatient and is currently being followed regularly. Here, we report a case of thyroid tuberculosis diagnosed after the apparent cure of cervical lymph node tuberculosis. Additionally, a review of the literature is included.

Recurrence of thyroid tuberculosis after complete treatment of lymph node tuberculosis / 대한내과학회지

Thyroid tuberculosis is rare, and primary tuberculosis is extremely rare. In most cases, thyroid tuberculosis presents as a thyroid nodule, thyroiditis, thyroid abscess, or thyroid cancer, and is often diagnosed after thyroidectomy. We experienced a case of thyroid tuberculosis that presented as a palpable thyroid nodule in a 32-year-old female patient. The patient had been previously diagnosed with cervical tuberculous lymphadenitis and had been treated successfully 6 years ago. Fine needle aspiration of the thyroid gland showed a small number of neutrophils and macrophages in a necrotic background, and many acid-fast bacilli were found with AFB staining. The patient began anti-tuberculosis therapy as an outpatient and is currently being followed regularly. Here, we report a case of thyroid tuberculosis diagnosed after the apparent cure of cervical lymph node tuberculosis. Additionally, a review of the literature is included.

A Case of Goodpasture's Syndrome in a Foundry Worker / 대한산업의학회지

BACKGROUND: Smoking, upper respiratory tract infection, genetic factors and hydrocarbons are known as risk factors of Goodpasture's syndrome. We studied a patient with Goodpasture's syndrome who had worked for 27 years in a foundry company. Based on a study on the work-relatedness of the syndrome, we describe and discuss our study results. CASE: A 46-year-old man, who had worked as a foundry worker for 27 years and had a 12 1/2 packyear history of smoking cigarettes, was admitted into a hospital on 15th February 2006 with coughing, chest pain and dyspnea. On admission, he had hematuria, proteinuria, severe restrictive pulmonary function disorder and rapid elevation of blood urea nitrogen/creatinine. Immunological examination showed ANA (+), ANCA (-) and Anti-GBM Ab (+). Kidney biopsy showed pauci-immune crescentic glomerulonephritis. Mild bleeding was revealed through bronchoscopy and no vasculitis and granuloma were present on at lung biopsy. Finally, we diagnosed the worker's illness as Goodpasture's syndrome and carried out hemodialysis and plasmapheresis. In the workplace survey, the exposure level of respirable crystalline silica exceeded the TLV-TWA (0.0106 mg/m3), which was calibrated for overtime. CONCLUSION: Based on both the clinical test and industrial hygiene examination, we concluded that the Goodpasture's syndrome in this case was caused by long-term silica exposure.

A Case of Goodpasture's Syndrome in a Foundry Worker / 대한산업의학회지

BACKGROUND: Smoking, upper respiratory tract infection, genetic factors and hydrocarbons are known as risk factors of Goodpasture's syndrome. We studied a patient with Goodpasture's syndrome who had worked for 27 years in a foundry company. Based on a study on the work-relatedness of the syndrome, we describe and discuss our study results. CASE: A 46-year-old man, who had worked as a foundry worker for 27 years and had a 12 1/2 packyear history of smoking cigarettes, was admitted into a hospital on 15th February 2006 with coughing, chest pain and dyspnea. On admission, he had hematuria, proteinuria, severe restrictive pulmonary function disorder and rapid elevation of blood urea nitrogen/creatinine. Immunological examination showed ANA (+), ANCA (-) and Anti-GBM Ab (+). Kidney biopsy showed pauci-immune crescentic glomerulonephritis. Mild bleeding was revealed through bronchoscopy and no vasculitis and granuloma were present on at lung biopsy. Finally, we diagnosed the worker's illness as Goodpasture's syndrome and carried out hemodialysis and plasmapheresis. In the workplace survey, the exposure level of respirable crystalline silica exceeded the TLV-TWA (0.0106 mg/m3), which was calibrated for overtime. CONCLUSION: Based on both the clinical test and industrial hygiene examination, we concluded that the Goodpasture's syndrome in this case was caused by long-term silica exposure.