Frecuencia del polimorfismo 282 c>t del gen n-acetiltransferasa (nat2) en poblaciones peruanas e implicancias en la salud / Prevalence of the N-Acetyltransferase (NAT2) gene polymorphism 282C>T in Peruvian population and health implications

Determinar la frecuencia del polimorfismo C282T del gen NAT2 (N-Acetiltransferasa) en poblaciones peruanas. Trabajo de campo enfocado en explorar un factor de riesgo genético en poblaciones peruanas, el cual presenta influencia en la respuesta a fármacos y en la génesis de neoplasias. Material y Métodos: Estudio descriptivo transversal. Participaron voluntariamente 116 individuos, procedentes de Lima, Lambayeque, Apurímac, Puno, San Martín, Amazonas y Loreto. Se realizó un muestreo por conveniencia y se empleó latécnica convencional de RFLP-PCR. Resultados: Las frecuencias alélicas globales de 54 % (n=126) para C282, 46 % (n=106) para T282. Por procedencia destacan las frecuencias del alelo T de 42 % (n=25) en Lima, 47 % (n=16) en Amazonas, 74% (n=28) en San Martín, y 50 % (n=13) en Apurímac (X2, p>0.05). Las frecuencias genotípicas globales fueron 26.7 % (n=31) para C282/C282, 56.0 % (n=65) para C282/T282 y 17.2 % (n=20) para T282/T282 (Prueba de Hardy Weinberg p>0.05). Puno presentó desequilibrio alélico (Prueba de Hardy Weinberg p<0.05), las demás poblaciones se presentaron en equilibrio (Prueba de Hardy Weinberg p>0.05). Conclusión: Se presentó una frecuencia global de 46 % del alelo NAT2 T282; San Martín tuvo la más alta prevalencia (74%). El alelo T282 presenta asociación a neoplasias y reacciones adversas por fármacos antituberculosos, estos resultadosservirán para la aplicación de la farmacogenética en el Perú...

To determine the frequency of the C282T polymorphism of the NAT2 gene (N acetyltransferase) in Peruvian populations. Field work, focused on exploring genetic risk factor in Peruvian populations, which has influence in the response to drugs and malignancies aetiology. Material and Methods: Cross-sectional study. 166 voluntaries from Lima, Lambayeque, Apurimac, Puno, San Martin, Amazonas and Loreto were enrolled. The sampling was done by convenience and it was use the RFLP-PCR conventional technique was used.Results: The allele frequency were 54% (n=126) for C282 and 46% (n=106) for T282. For the T allele, by its orign , stand out 2 those which origins were Lima 42% (n=25), Amazonas 47% (n=16), San Martin 74% (n=28) and Apurimac 50% (n=13) (X , p>0.05). A global genotype frequency were 26.7% (n=31) for C282/C282, 56.0% (n=65) for C282/T282 and 17.2% (n=20) for T282/T282 (Hardy Weinberg Test p>0.05). By origin, Puno presented allelic imbalance (Hardy Weinberg test p<0.05) and the others populations presented allelic balance (Hardy Weinberg test p>0.05). Conclusion: The overall frequency of NAT2 allele T282 was 46%; San Martin had the highest prevalence (74%). The T282 allele is linked to neoplastic diseases and adverse reactions to anti-TB drugs, these results will be used for the application of pharmacogenetics in Peru...

A Case of Hemichorea with Primary Somatosensory Cortical Infarction / 대한뇌졸중학회지

Hemichorea is caused by various diseases but stroke is the most common cause. The usual lesions of the stroke related hemichorea are the contralateral subthalamus or basal ganglia. Few cases with cortical lesion have been reported. But hemichorea with primary somatosensory cortical lesion has not yet been reported. We report a case with hemichorea after acute infarction of the contralateral primary somatosensory cortex.

Thoracic Spinal Arteriovenous Fistula with Subarachnoid Hemorrhage

No abstract available.

Sudden Deafness Concurrent with Ipsilateral Benign Paroxysmal Positional Vertigo / 대한평형의학회지

Benign paroxysmal positional vertigo (BPPV) is a disorder caused by otoconia in the inner ear. Its symptoms are repeated episodes of positional vertigo, that is, of a spinning sensation caused by changes in the position of the head. BPPV with simultaneous ipsilateral sudden deafness is rare. A 82-year-old woman was admitted due to acute onset of right ear hearing impairment, tinnitus, and vertigo for a day. She had a history of hypertension for 5 years. On neurologic examination, spontaneous nystagmus was not observed. However, roll test showed direction-changing horizontal geotrophic nystagmus. Vestibular function test showed positional nystagmus compactable with right horizontal semicircular canal-BPPV (canalolithiasis). Brain MRI was unremarkable. Neuro-otologic evaluation reveals right ear sensorineural deafness. Barbecue maneuver was applied for treatment for BPPV. Dexamethasone 10 mg intravenous for 5 days after then methylprednisolone orally for 5 days was done. Vertigo improved after treatment, but deafness still remain. We report a case of sudden deafness concurrent with ipsilateral BPPV and consider the mechanisms of this lesion.

A Case of Esophageal Compression by a Right-sided Aortic Arch and Kommerell's Diverticulum Mimicking an Esophageal Submucosal Tumor / 대한소화기내시경학회지

A right-sided aortic arch and Kommerell's diverticulum, remnants of the left dorsal aortic arch in the circulation of the embryo, are uncommon congenital defects of the aorta. They may be asymptomatic in most cases, but symptoms are manifested by compressing mediastinal structures or are related to congenital heart anomalies. If aneurismal dilatation of the diverticulum presents with rupture, it is lethal. We report a case of esophageal compression by a right-sided aortic arch and Kommerell's diverticulum that mimicked an esophageal submucosal tumor in a patient who complained of symptoms during the past ten years of food retention in the upper thorax when a bolus of food was ingested.

Clinical Features and Treatment Outcomes of Upper Gastrointestinal Bleeding in Patients with Cirrhosis

With recent progress in treatment modalities, mortality from upper gastrointestinal (UGI) bleeding has decreased appreciably. The aim of this study was to establish how UGI bleeds are managed in Korean patients with cirrhosis and to evaluate treatment outcomes. A total of 479 episodes of acute UGI bleeding in 464 patients with cirrhosis were included during a six-month period at nine tertiary medical centers. Treatment outcomes were assessed by failure to control bleeding, rebleeding and mortality. The source of bleeding was esophagogastric varices in 77.7% of patients, nonvariceal lesions in 15.9%, and undefined in 6.5%. For control of bleeding, endoscopic and pharmacologic treatments were used in 74.7% and 81.9% of patients, respectively. Variceal ligation was a major technique for endoscopic treatment (90%), and terlipressin and somatostatin were the main pharmacologic agents used (96.4%). Initial hemostasis was achieved in 86.8% of cases, but rebleeding occurred in 3.8% and 16.8% of cases within five days and six weeks of hemorrhage, respectively. Five-day and six-week mortality were 11.3% and 25.9%, respectively. Survival of patients with variceal bleeding seems to be remarkably improved than previous reports, which may suggest the advances in hemostatic methods for control of variceal hemorrhage..

A Case of Vasculitis in Chronic Hepatitis C Patient Treated with Pegylated Interferon Alpha-2a and Ribavirin / 대한간학회지

There has been an increase in the number of patients treated with pegylated interferon (PEG-IFN) and ribavirin due to the better antiviral efficacy. The main serious adverse events of PEG-IFN plus ribavirin combination therapy are bone marrow suppression and hemolytic anemia. However, there are few reports of vasculitis occurring during PEG-IFN therapy. We describe a patient who developed vasculitis during the treatment of chronic hepatitis C with PEG-IFN and ribavirin.

Tuberculous Meningitis in a Patient with Crohn's Disease, Which was Treated with Infliximab / 대한소화기내시경학회지

Clinical trials of tumor necrosis factor (TNF) inhibitor have demonstrated significant efficacy in those patients with Crohn's disease that is not responsive to other anti-inflammatory drug. Infliximab is a human-murine chimeric monoclonal antibody with a high binding affinity and specificity for TNF-alpha. Yet therapy with infliximab is associated with an increased risk of opportunistic infection, and especially tuberculosis. Here we reported on a case of tuberculous meningitis in 26-year-old man, and he was treated with infliximab for uncontrolled and fistulous Crohn's disease. We also include a review of the literature.

A Case of Foreign Body Induced Esophageal Perforation Repaired by Endoscopic Clipping / 대한소화기내시경학회지

An esophageal perforation is a potentially life threatening condition with a high mortality rate. Although primary surgical repair is the mainstay of treatment, non-surgical management can be attempted in selected patients. The successful endoscopic closure of an esophageal perforation with metallic clips was recently reported. We report a case of an esophageal perforation caused by a dog bone and mediastinitis treated by non-surgical management consisting of parenteral nutrition, antibiotics therapy and endoscopic clipping.

Clinical Features of Pseudoaneurysms Complicating Pancreatitis: Single Center Experience and Review of Korean Literature / 대한소화기학회지

BACKGROUND/AIMS: Pseudoaneurysm is a life-threatening complication of chronic or acute pancreatitis. This study was undertaken to evaluate the clinical features of pseudoaneurysm complicating pancreatitis. METHODS: We reviewed the medical records of 7 patients diagnosed as pseudoaneurysms with chronic pancreatitis in Korea University Guro and Anam Hospital from January 1995 to March 2006 and analyzed their demographics, clinical courses and outcomes. RESULTS: All patients were men and mean age was 54.6 years (range, 43-67 years). All the cases occurred in the setting of chronic alcoholic pancreatitis complicated by pseudocyst. Abdominal pain was the unique initial clinical symptom in 5 cases, hematemesis in 1 case, and simultaneous abdominal pain with hematemesis in 1 case. Bleeding into pseudocyst developed in 5 cases, flowing into duodenum through pancreatic duct in 1 case and rupture into the descending colon in 1 case. Mean duration between onset of symptom and diagnosis of pseudoaneurysm was 7.8 days (range, 1-23 days). Six cases were diagnosed by abdominal computed tomography disclosing characteristic finding of focal high density area in the pseudocyst. Pulsed doppler abdominal sonography was performed before computed tomography in 3 cases and results were negative in 2 cases. Transcatheter arterial embolizations were initially performed in 6 cases, and there was no recurrent bleeding except one case of splenic infarction. Distal pancreatectomy was initially performed in 1 case. CONCLUSIONS: Pseudoaneurysms complicating chronic pancreatitis shows various clinical features. Transcatheter arterial embolization can be recommended as a primary therapeutic modality.

A Case of Zenker's Diverticulum Treated by Argon Plasma Coagulation / 대한소화기내시경학회지

Zenker's diverticulum occurs mainly in elderly patients with typical symptoms including dysphagia, regurgitation, chronic cough, aspiration, and weight loss. A diagnosis is easily established on upper endoscopy or barium studies. The treatment is surgery or endoscopic cricopharyngeal myotomy. Endoscopic procedures include staple assisted diverticulostomy, CO2 laser, transparent oblique-endhood attached endoscopic diverticulostomy, and argon plasma coagulation. Minimally invasive endoscopic treatments are associated with a shorter operating time, shorter postoperative hospital stay, quicker resumption of oral intake, and fewer overall complications. Argon plasma coagulation can be performed in any regular endoscopy unit and is less invasive, economical, faster, and well-tolerated. In particular, older patients in a poor general condition, at high surgical risk or with contraindications to general anesthesia can be treated with argon plasma coagulation.

A Prospective Study Comparing the Efficacy of Early Administration of Terlipressin and Somatostatin for the Control of Acute Variceal Bleeding in Patients with Cirrhosis / 대한간학회지

BACKGROUND/AIMS: Terlipressin and somatostatin decrease portal venous pressure and they are used for the treatment of variceal bleeding. However, only a few studies have compared the efficacy of these drugs in combination with other procedures for hemostasis. Therefore, we performed a prospective study to compare the efficacy of terlipressin and somatostatin for controlling acute variceal bleeding when used in combination with other procedures for hemostasis. METHODS: A total of 98 patients, who presented with variceal bleeding from September 2003 to May 2005, were randomly divided into the somatostatin group or terlipressin group. We compared the 5-day failure rate (defined as failure to control bleeding, rebleeding or death within 5 days of admission) and the 6-week mortality. The prognostic factors for 5-day failure and 6-week mortality were also evaluated. RESULTS: There were no differences in baseline characteristics between the two groups. The overall 5-day failure rate and the cumulative 6-week mortality were 16.3% and 15.8%, respectively. The five-day failure rate and the cumulative 6-week mortality were not significantly different between the somatostatin and terlipressin groups. Hepatocellular carcinoma, the baseline serum creatinine level and endoscopic treatment for hemostasis were the significant predictors of 5-day failure; the baseline serum creatinine level was the predictor of 6-week mortality. CONCLUSIONS: Both somatostatin and terlipressin were effective and showed comparable efficacy for the control of the acute variceal bleeding in the setting of a combined therapeutic approach. The baseline serum creatinine level may be a significant predictor for patient failure at 5 days and the 6-week mortality.

Spontaneous Resolution of Vanishing Bile Duct Syndrome in Hodgkin's Lymphoma / 대한간학회지

Cholestasis in a patient with Hodgkin's disease is uncommon, and the causes of cholestasis are mainly direct tumor involvement of the liver, hepatotoxic effects of drugs, viral hepatitis, sepsis and opportunistic infections. Vanishing bile duct syndrome (VBDS) represents a very rare cause for cholestasis in this disease. We report here on a case of a 45-year-old man who developed VBDS during the complete remission stage of Hodgkin's lymphoma. There was no history of hepatitis or intravenous drug abuse, and the patient had negative results for hepatitis A virus, hepatitis B virus, hepatitis C virus, cytomegalovirus, and human immunodeficiency virus. The serological studies for antinuclear antibodies, anti-mitochondrial antibodies and anti-smooth muscle antibodies were also negative. Liver biopsy disclosed the absence of interlobular bile ducts in 9 of 10 portal tracts without any active lymphocyte infiltration and there were no Reed-Sternberg cell in the liver. The patient's cholestasis was in remission and the serum bililrubin level was normalized after two months without treatment, but tumor recurrence was noted at multiple sites of the abdominal lymph nodes on follow-up abdomino-pelvic computed tomogram.

A Case of Primary Pulmonary Plasmacytoma Presenting as Endobronchial Mass / 결핵

Extramedullary plasmacytoma(EMP) comprises 5% of all plasma cell neoplasms and commonly occurs in the upper airway or digestive tract. However, it rarely develops in the lungs. We present a case of primary pulmonary plasmacyotma in a 45 year old man, who presented as an endobronchial mass with a pleural effusion, but without evidence of multiple myeloma. The treatment options for EMP include surgery, surgery and radiotherapy, surgery and chemotherapy or chemotherapy alone. Surgery and radiation therapy appeared to be equally effective forms of treatment. The local recurrence rate was reported to be 30%, with 48% progressing to multiple myeloma, and median survival was reported to be 63-101 months. Our patient was initially treated with melphalan and prednisolone. However the disease progressed, and radiotherapy was combined with chemotherapy. In addition, the chemotherapy regimen was also changed to thalidomide and dexamethasone. The patient did not respond to this treatment regimen and finally died.

A Case of Pulmonary Artery Aneurysm by Pulmonary Actinomycosis / 결핵

Pulmonary aneurysm is a rare vascular anomaly.Infection is one of major causes of pulmonary aneurysms. Pulmonary aneurysm by pulmonary actinomycosis is a rare case. Our case is maybe the first case in Korea,so far similar case has not been reported Worldwide written in English. We describe a 73-year-old man with aneurysm of pulmonary artery caused by actinomycosis infection on lung. We detected aneurysm by angiography of pulmonary artery, and actinomycosis infection was revealed by confirm sulfur granules on specimens taken by percutaneous needle aspiration(PCNA). Antibiotic therapy was applied to this patient and aneurym was embolized with coils.With this therapy,the patient was successfully managed and improved.

A case of native valve infective endocarditis caused by Microbacterium species / 대한내과학회지

Microbacterium species is part of the normal flora of the skin and pharynx. Native valve infective endocarditis caused by Microbacterium speciesis is rare case. We describe a 37-year-old man with native valve endocarditis caused by Microbacterium species. He presented with high fever, myalgia, weight loss. Microbacterium species was isolated from blood culture. Successful treatment was achieved with intravenous ceftriaxone and oral amoxicillin.

The Relationship of Mitral Valve Area Measured by 2-Dimensional Echocardiography with the M-Mode Measurements in Mitral Valvular Stenosis

Mitral valvular orifice area is important for the evaluation of prognosis and treatment of patients with mitral valvular stenosis. Until recently, Gorlin's formula using cardiac catheterization has been utilized in the measurement of mitral valve area, but it is invasive and impractical to examine repeatedly. Recently 2-Dimensional echocardiography appeared to be a practical and useful substitute in measurement of valve area and also it is economical and has no risk to patients. In 31 patients with mitral valvular stenosis examined at the echocardiography room of Busan national University Hospital from March 1982 to March 1983, we measured the mitral valve area with 2-Dimensional echocardiography and evaluated its relationship with the left ventricular functions measured on M-mode echocardiogram. Among many parameters on M-mode measurements EF slope, excursion amplitude and the ratio of left atrial dimension to aortic root dimension were rather helpful for the assessment of severity of mitral valvular stenosis than other parameters. And each relationship with the valve area showed correlation coefficient of 0.60, 0.05 and -0.58, respectively.