An 11 year-old girl, whose condition was diagnosed as juvenile-type autosomal recessive polycystic kidney disease (ARPKD) at five years of age, presented with chest pain and dyspnea that had developed suddenly two months previously. Two-dimensional echocardiography, Doppler study and cardiac catheterization confirmed pulmonary hypertension. The underlying mechanism of the diagnosis was not defined. Two and a half months after the onset of symptoms, the patient died of pulmonary hypertensive crisis. Careful regular checks of cardiopulmonary status using two-dimensional echocardiography and Doppler should be considered for the early detection of pulmonary hypertension even in an asymptomatic patient with juvenile-type ARPKD.
Biopsy ; Case Report ; Child ; Echocardiography, Doppler ; Fatal Outcome ; Female ; Human ; Hypertension, Pulmonary/ultrasonography ; Hypertension, Pulmonary/complications* ; Liver Cirrhosis/pathology ; Liver Cirrhosis/complications ; Polycystic Kidney, Autosomal Recessive/ultrasonography ; Polycystic Kidney, Autosomal Recessive/complications*

PURPOSE: As mesial temporal lobe epilepsy (TLE) shows hypometabolism of medial and lateral tempora lobe, we investigated whether symmetric uptake of F-18-FDG in medial temporal lobes can differentiat mesial from lateral TLE. MATERIALS AND METHODS: In 113 patients (83 mesial TLE, 30 lateral TLE) wh underwent anterior temporal lobectomy and/or corticectomy with good surgical outcome, we performe F-18-FDG PET and compared F-18-FDG uptake of medial and lateral temporal lobes. All the patients wi mesial TLE had hippocampal sclerosis except one congenital abnormal hippocampus. Patients with latera TLE revealed cerebromalacia, microdysgenesis, arteriovenous malformation, old contusion, and cortical dys plasia. RESULTS: Sensitivity of F-18-FDG PET and MR for mesial TLE was 84% (70/83) and 73% (61/83 respectively. Sensitivity of F-18-FDG PET and MR for lateral TLE was 90% (27/30) and 66% (20/30 respectively. Twelve patients were normal on F-18-FDG PET. 101 patients had hypometabolism of latera temporal lobe. Among 88 patients who showed hypometabolism of medial temporal lobe as well as later temporal lobe, 70 were mesial TLE patients and 18 were lateral TLE on pathologic examination. Positive predictive value of medial temporal hypometabolism for mesial TLE was 80%. Among 13 patients wh showed hypometabolism of only lateral temporal lobe, 4 were mesial TLE and 9 were lateral TLE. Positive predictive value of hypometabolism of lateral temporal lobe for the diagnosis of lateral TLE was 69% ( 13). Normal MR findings stood against medial TLE, whose negative predictive value was 66%. Conclusion Lateral temporal lobe epilepsy should be suspected when there is decreased F-18-FDG uptake in latera temporal lobe with normal uptake in medial temporal lobe.
Anterior Temporal Lobectomy ; Arteriovenous Malformations ; Contusions ; Diagnosis ; Electrons* ; Encephalomalacia ; Epilepsy, Temporal Lobe* ; Hippocampus ; Humans ; Magnetic Resonance Imaging* ; Positron-Emission Tomography* ; Sclerosis ; Temporal Lobe*

PURPOSE: This study was aimed to assess the clinical manifestations and courses of autosomal recessive polycystic kidney disease (ARPKD). METHODS: The medical records of 10 children diagnosed as infantile or juvenile ARPKD at Seoul National University Children's Hospital between January, 1984 and December, 1996, were reviewed, retrospectively. RESULTS: The average age at diagnosis was 3 8/12 years (4months-7 3/12 years) and sex ratio was 1 : 1. The mean follow-up duration was 8 5/12 years. Family history of renal cystic disease or hepatic fibrosis was not detected in any cases. Bilateral enlarged kidneys were noted in 2 cases and hepatosplenomegaly in all cases. Renal function had been maintained normally in all cases during follow-up. Urinary abnormalities were revealed in 4 cases and hypertension in 2 cases. Although liver enzyme levels were normal in all cases, esophageal varix was detected in 6 cases by gastrofiberscopy, and two of them received Warren shunt operation. The shunt operation did not affect the progression of the renal lesion. In 2 patients, who were diagnosed initially as congenital hepatic fibrosis, the renal cystic changes of ARPKD were detected 3 years and 6 years later. CONCLUSION: Because of the heterogeneous clinical spectrum and variable rate of progression of renal and hepatic lesion in ARPKD, the detection rate may vary. So patients, suspected to have ARPKD or congenital hepatic fibrosis, should be regularly followed up to detect latent renal lesion through radiological or pathological studies.
Child ; Diagnosis ; Esophageal and Gastric Varices ; Fibrosis ; Follow-Up Studies* ; Humans ; Hypertension ; Kidney ; Liver ; Medical Records ; Polycystic Kidney, Autosomal Recessive* ; Retrospective Studies ; Seoul ; Sex Ratio

Air pollutants are in the spotlight because the human body can easily be exposed to them. Among air pollutants, the particulate matter (PM) represents one of the most serious toxicants that can enter the human body through various exposure routes. PMs have various adverse effects and classified as severe carcinogen by International Agency for Research on Cancer. Their physical and chemical characteristics are distinguished by their size. In this review, we summarized the published information on the physicochemical characteristics and adverse effects of PMs on the skin, including carcinogenicity. Through comparisons of biological networks constructed from relationships discussed in the previous scientific publications, we show it is possible to predict skin cancers and other disorders from particle-size-specific signaling alterations of PM-responsive genes. Our review not only helps to grasp the biological association between ambient PMs and skin diseases including cancer, but also provides new approaches to interpret chemical-gene-disease associations regarding the adverse effects of these heterogeneous particles.

Air pollutants are in the spotlight because the human body can easily be exposed to them. Among air pollutants, the particulate matter (PM) represents one of the most serious toxicants that can enter the human body through various exposure routes. PMs have various adverse effects and classified as severe carcinogen by International Agency for Research on Cancer. Their physical and chemical characteristics are distinguished by their size. In this review, we summarized the published information on the physicochemical characteristics and adverse effects of PMs on the skin, including carcinogenicity. Through comparisons of biological networks constructed from relationships discussed in the previous scientific publications, we show it is possible to predict skin cancers and other disorders from particle-size-specific signaling alterations of PM-responsive genes. Our review not only helps to grasp the biological association between ambient PMs and skin diseases including cancer, but also provides new approaches to interpret chemical-gene-disease associations regarding the adverse effects of these heterogeneous particles.

To evaluate the usefullness of SPECT thallium-201 exercise myocardial perfusion scan in coronary artery disease, polar maps processing SPECT images were compared to the exercise treadmill test and the findings of coronary angiographies in 12 normal subjects and 27 patients with the coronary artery disease. The following results were obtained : 1) Sensitivity and specificity of thallium-201 exercise myocardial perfusion scan was 96% and 83%, higher than that of exercise treadmill test(81% abd 61%). 2) In the branches of coronry artery, the sensitivity, specificity and positive predicitive values were 82%, 88%, 90% in left anterior descending artery, 33%, 88%, 57% in left circumflex artery and 69%, 81%, 90% 64% in right coronary artery. 3) The good correlation was observed between the degree of perfusion defect in polar map of thallium-201 myocardial scan in stress and 'myocardial ischemic score' predicted in coronary angiography(p<0.001). Also the degree of reversible perfusion defect had significant correlation with the durtion of exercise. 4) The pulmonary to myocardial ratio of thallium-201 uptake in coronary artery disease group higher than that of angina group. And the perfusion defect with stress and double product at maximal exercise had strongest assocition with the pulmonary to myocardial ratio of thallium-201 uptake by stepwise multiple linear regression. In conclusion, SPECT thallium-201 exercise myocardial perfusion scan is superior to the exercise treadmill test in diagnosing the coronary artery disese and is useful for predicting the sites and degree of coronary arterial stenosis. Also the pulmonary to myocardial ratio of thallium-201 uptake is thought to be good new test index in evaluating the left ventricular function of patients with coronary artery disease.
Arteries ; Constriction, Pathologic ; Coronary Angiography ; Coronary Artery Disease* ; Coronary Vessels* ; Exercise Test ; Humans ; Linear Models ; Perfusion* ; Sensitivity and Specificity ; Tomography, Emission-Computed, Single-Photon* ; Ventricular Function, Left

BACKGROUND/AIMS: The Barrett's esophagus is confirmed by performing a biopsy when the gastroesophageal junction (GEJ) and Z-line do not coincide. In Japan, the GEJ is at the distal end of the palisading vessel while Western countries define it as the proximal tip of the gastric fold. However, there is little data on the prevalence of an endoscopic Barrett's esophagus and the inter-observer variation. METHODS: Four experienced endoscopists reviewed the endoscopic still images of 111 consecutive patients. The level of inter-observer agreement was expressed as a kappa value. RESULTS: The average percentage of patients with an endoscopically confirmed esophagus was 34.2%. The level of inter-observer agreement was substantial (kappa=0.698). CONCLUSIONS: The prevalence of an endoscopic confirmed Barrett's esophagus was high, and the inter-observer variation was substantial when the GEJ was defined as the distal end of the palisading vessel. Considering the low incidence of esophageal adenocarcinoma and the risk of hemorrhage from a biopsy, a more specific marker is needed in this high-risk group.
Adenocarcinoma ; Barrett Esophagus* ; Biopsy ; Esophagogastric Junction ; Esophagus ; Hemorrhage ; Humans ; Incidence ; Japan ; Observer Variation* ; Prevalence*

Extranodal NK/T-cell lymphoma is a recently recognized distinct entity within the World Health Organization classification of lymphoid tumors. It is relatively prevalent in Asian and South American populations. It most commonly occurs in the nasal or paranasal areas and less frequently in the skin, the soft tissue, and the gastrointestinal tract. Among these, extranodal NK/T-cell lymphoma of the gastrointestinal tract has shown an aggressive clinical course. We report a case of CD56+ extranodal NK/T-cell lymphoma presenting as a duodenal ulcer bleeding. A 62-year-old male patient presented with melena and abdominal pain. Endoscopic examination of the upper gastrointestinal tract showed the duodenal ulcer covered by blood clot. Pathologic examination revealed the diffuse infiltration of atypical lymphocytes with an angiocentric growth pattern, which was positive for CD3, CD56, and granzyme. The patient showed rapid deteriorating clinical course and died on day 14 after admission. Thus, we report this case with the review of literatures.
Antigens, CD3/metabolism ; Antigens, CD56/*metabolism ; Bone Marrow/pathology ; Duodenal Ulcer/*diagnosis ; Herpesvirus 4, Human/genetics/metabolism ; Humans ; Lymphoma, Extranodal NK-T-Cell/*diagnosis/pathology ; Male ; Middle Aged ; Peptic Ulcer Hemorrhage/*diagnosis ; Tomography, X-Ray Computed

Resistance assays are useful in guiding decisions for patients experiencing virologic failure (VF) during highly-active antiretroviral therapy (HAART). We investigated antiretroviral resistance mutations in 41 Korean human immunodeficiency virus type 1 (HIV-1) infected patients with VF and observed immunologic/virologic response 6 months after HAART regimen change. Mean HAART duration prior to resistance assay was 45.3+/-27.5 months and commonly prescribed HAART regimens were zidovudine/lamivudine/nelfinavir (22.0%) and zidovudine/lamivudine/efavirenz (19.5%). Forty patients (97.6%) revealed intermediate to high-level resistance to equal or more than 2 antiretroviral drugs among prescribed HAART regimen. M184V/I mutation was observed in 36 patients (87.7%) followed by T215Y/F (41.5%) and M46I/L (34%). Six months after resistance assay and HAART regimen change, median CD4+ T cell count increased from 168 cells/microliter (interquartile range [IQR], 62-253) to 276 cells/microliter (IQR, 153-381) and log viral load decreased from 4.65 copies/mL (IQR, 4.18-5.00) to 1.91 copies/mL (IQR, 1.10-3.60) (P<0.001 for both values). The number of patients who accomplished viral load <400 copies/mL was 26 (63.4%) at 6 months follow-up. In conclusion, many Korean HIV-1 infected patients with VF are harboring strains with multiple resistance mutations and immunologic/virologic parameters are improved significantly after genotypic resistance assay and HAART regimen change.
Adult ; Aged ; *Antiretroviral Therapy, Highly Active ; Biological Assay/methods/utilization ; Drug Resistance, Viral/*genetics ; Female ; HIV Infections/*drug therapy/genetics ; HIV-1/*genetics ; Humans ; Male ; Middle Aged ; *Mutation ; Treatment Outcome ; Viral Load ; Young Adult

Myxoma is the most common type of primary cardiac tumor and about 75% of myxomas occur in the left atrium of the heart. Most myxomas are diagnosed by echocardiography. The growth rate of myxoma is clearly unknown and newly developed myxoma is difficult to understand clearly the onset of growth. We describe the case of a newly developed huge left atrial myxoma (7x7 cm)which showed no echocardiographic evidence of the tumor four years ago. Four years later the patient underwent transthoracic echocardiography due to preoperative evaluation that was normal. Nine months later, she presented with dyspnea. Transthoracic echocardiography showed a large mass located in left atrium. Pathology showed a myxoma that measured 7x7 cm implying a growth rate of 0.15x0.15 cm/month.
Dyspnea ; Echocardiography ; Heart ; Heart Atria ; Heart Neoplasms ; Humans ; Myxoma