Idiopathic renal hypouricemia (iRHUC) is a rare hereditary disease caused by a defect in urate handling of renal tubules. Type 1 renal hypouricemia (RHUC1) is diagnosed with confirmation of a mutation in SLC22A12 gene which encodes a renal urate-anion exchanger (URAT1). The majority of iRHUC patients are asymptomatic, especially during childhood, and thus many cases go undiagnosed or they are diagnosed late in older age with complications of hematuria, renal stones, or acute kidney injury (AKI). We report a case of a 7-year-old boy with subtle symptoms such as general weakness and dizziness and revealed hypouricemia and incidental nephrolithiasis. Homozygous mutations were detected in the SLC22A12(c.774G>A) by molecular analysis. The present case suggests that fractional excretion of uric acid (FEUA) screening could be better followed by the coincidental discovery of hypouricemia, to prevent conflicting complications of iRHUC, even with normal urine uric acid to creatinine ratio (UUA/UCr), and sequential genetic analysis if needed.

Idiopathic renal hypouricemia (iRHUC) is a rare hereditary disease caused by a defect in urate handling of renal tubules. Type 1 renal hypouricemia (RHUC1) is diagnosed with confirmation of a mutation in SLC22A12 gene which encodes a renal urate-anion exchanger (URAT1). The majority of iRHUC patients are asymptomatic, especially during childhood, and thus many cases go undiagnosed or they are diagnosed late in older age with complications of hematuria, renal stones, or acute kidney injury (AKI). We report a case of a 7-year-old boy with subtle symptoms such as general weakness and dizziness and revealed hypouricemia and incidental nephrolithiasis. Homozygous mutations were detected in the SLC22A12(c.774G>A) by molecular analysis. The present case suggests that fractional excretion of uric acid (FEUA) screening could be better followed by the coincidental discovery of hypouricemia, to prevent conflicting complications of iRHUC, even with normal urine uric acid to creatinine ratio (UUA/UCr), and sequential genetic analysis if needed.

During the last two decades, there has been an increasing interest in the impact of oral health on atherosclerosis and subsequent cardiovascular disease (CVD). To date, some periodontal pathogens including Porphyromonas gingivalis (P. gingivalis) have been reported to be relevant to CVD. Porphyromonas endodontalis (P. endodontalis), which shares approximately 87% sequence homology with P. gingivalis, is mostly found within infected root canals. However, recent studies reveal that this pathogen also resides in the dental plaque or periodontal pocket in patients with periodontitis. It has been shown that P. endodontalis invades human coronary artery endothelial cells (HCAEC) and coronary artery smooth muscle cells (CASMC). To evaluate whether P. endodontalis can participate in the progression of atherosclerosis and CVD, we examined the changes in transcriptional gene expression profiles of HCAEC responding to invasion by P. endodontalis in this study. The following results were obtained. 1. Porphyromonas endodontalis was invasive of HCAEC. 2. According to the microarray analysis, there were 625 genes upregulated more than two-folds, while there were 154 genes downregulated by half. 3. Upregulated genes were relevant to inflammatory cytokines, apoptosis, coagulation and immune response. Enhanced expression of MMP-1 was also noticeable. 4. The transcription profiles of the 10 selected genes examined by real-time PCR agreed well with those observed in the microarray analysis. Thus, these results show that P. endodontalis presents the potential to trigger and augment atherosclerosis leading to CVD.
Apoptosis ; Atherosclerosis ; Cardiovascular Diseases ; Coronary Vessels ; Cytokines ; Dental Plaque ; Dental Pulp Cavity ; Endothelial Cells ; Gene Expression ; Humans ; Microarray Analysis ; Myocytes, Smooth Muscle ; Oral Health ; Periodontal Pocket ; Periodontitis ; Porphyromonas ; Porphyromonas endodontalis ; Porphyromonas gingivalis ; Real-Time Polymerase Chain Reaction ; Sequence Homology ; Transcriptome

Symptomatic hepatic cysts are infrequently seen. A 82-year-old woman was admitted because of growing abdominal mass and pain. On admission, the mass was palpated on right upper quadrant of the abdomen. Ultrasonography and computed tomography disclosed a huge cystic lesion of the liver. It measured 22.5 x 19.0 x 18.0 cm and had a thick wall that was irregular. Because of the patient's symptoms and the radiologic findings, the decision was made to aspirate the cyst percutaneously under fluoroscopic guidance. Percutaneous drainage yielded approximately 3300 cc of yellow brownish fluid. A cytologic evaluation of the fluid was negative for malignant cells, and a fluid analysis was described as predominantly inflammatory in nature. Cultures revealed a growth of Klebsiella oxytoca. After drainage of the cystic fluid, we instilled contrast medium. No communication between the cyst and bile ducts was seen. Seven days later, the patient was discharged. Four months after treatment, no reaccumulated fluid was observed by ultrasonography. Ten months after treatment, the patient is healthy without abdominal discomfort. We report a case of the infected huge hepatic cyst successfully treated with fluoroscopic-uided percutaneous drainage.
Abdomen ; Aged, 80 and over ; Bile Ducts ; Drainage* ; Female ; Humans ; Klebsiella oxytoca ; Liver ; Ultrasonography

No abstract available.
Leukemia, Myelomonocytic, Acute* ; Skin*

No abstract available.
Leukemia, Myelomonocytic, Acute* ; Skin*

BACKGROUND: Experimental studies have shown that ischemic postconditioning can reduce neuronal injury in the setting of cerebral ischemia, but the mechanisms are not yet clearly elucidated. This study was conducted to determine whether ischemic postconditioning can alter expression of heat shock protein 70 and reduce acute phase neuronal injury in rats subjected to transient focal cerebral ischemia/reperfusion. METHODS: Focal cerebral ischemia was induced by intraluminal middle cerebral artery occlusion for 60 min in twenty male Sprague-Dawley rats (250-300 g). Rats were randomized into control group and an ischemic postconditioning group (10 rats per group). The animals of control group had no intervention either before or after MCA occlusion. Ischemic postconditioning was elicited by 3 cycles of 30 s reperfusion interspersed by 10 s ischemia immediately after onset of reperfusion. The infarct ratios, brain edema ratios and motor behavior deficits were analyzed 24 hrs after ischemic insult. Caspase-3 reactive cells and cells showing heat shock protein 70 activity were counted in the caudoputamen and frontoparietal cortex. RESULTS: Ischemic postconditiong did not reduce infarct size and brain edema ratios compared to control group. Neurologic scores were not significantly different between groups. The number of caspase-3 reactive cells in the ischemic postconditioning group was not significantly different than the value of the control group in the caudoputamen and frontoparietal cortex. The number of cells showing heat shock protein 70 activity was not significantly different than the control group, as well. CONCLUSIONS: These results suggest that ischemic postconditioning may not influence the early brain damage induced by focal cerebral ischemia in rats.
Animals ; Brain ; Brain Edema ; Brain Injuries ; Brain Ischemia ; Caspase 3 ; HSP70 Heat-Shock Proteins ; Humans ; Infarction, Middle Cerebral Artery ; Ischemia ; Ischemic Postconditioning ; Male ; Neurons ; Rats ; Rats, Sprague-Dawley ; Reperfusion

BACKGROUND: Experimental studies have shown that ischemic postconditioning can reduce neuronal injury in the setting of cerebral ischemia, but the mechanisms are not yet clearly elucidated. This study was conducted to determine whether ischemic postconditioning can alter expression of heat shock protein 70 and reduce acute phase neuronal injury in rats subjected to transient focal cerebral ischemia/reperfusion. METHODS: Focal cerebral ischemia was induced by intraluminal middle cerebral artery occlusion for 60 min in twenty male Sprague-Dawley rats (250-300 g). Rats were randomized into control group and an ischemic postconditioning group (10 rats per group). The animals of control group had no intervention either before or after MCA occlusion. Ischemic postconditioning was elicited by 3 cycles of 30 s reperfusion interspersed by 10 s ischemia immediately after onset of reperfusion. The infarct ratios, brain edema ratios and motor behavior deficits were analyzed 24 hrs after ischemic insult. Caspase-3 reactive cells and cells showing heat shock protein 70 activity were counted in the caudoputamen and frontoparietal cortex. RESULTS: Ischemic postconditiong did not reduce infarct size and brain edema ratios compared to control group. Neurologic scores were not significantly different between groups. The number of caspase-3 reactive cells in the ischemic postconditioning group was not significantly different than the value of the control group in the caudoputamen and frontoparietal cortex. The number of cells showing heat shock protein 70 activity was not significantly different than the control group, as well. CONCLUSIONS: These results suggest that ischemic postconditioning may not influence the early brain damage induced by focal cerebral ischemia in rats.
Animals ; Brain ; Brain Edema ; Brain Injuries ; Brain Ischemia ; Caspase 3 ; HSP70 Heat-Shock Proteins ; Humans ; Infarction, Middle Cerebral Artery ; Ischemia ; Ischemic Postconditioning ; Male ; Neurons ; Rats ; Rats, Sprague-Dawley ; Reperfusion

PURPOSE: The relationship between serum cholesterol levels and mortality is complex. Serum cholesterol levels correlate positively with coronary artery disease, but some studies have suggested a negative relationship in cancer patients. Because the serum cholesterol levels are one of the most frequently assayed laboratory values, trends in the levels of cholesterol were investigated, in patients with gastric cancer and assumed a possible role in cancer screening. MATERIALS AND METHODS: The serum cholesterol levels were retrospectively analyzed in a group of 220 patients, diagnosed with gastric cancer, and in 177 healthy subjects. Anthropometric (body mass index: BMI) and biochemical indices of their nutritional status were also determined in the study subjects. Statistical analyses were performed by analyses of variance and covariance, and a discriminant analysis. RESULTS: The levels of serum cholesterol, albumin, Hb and the BMI were significantly lower in the gastric cancer-patients group than in the healthy-subjects group. The serum cholesterol and Hb levels were shown to be independent of each other, when adjusted for the effects of the BMI. In the patients with gastric cancer the levels of cholesterol and Hb showed decreasing tendencies as did the tumor extension, as defined by the TNM system. CONCLUSION: The serum cholesterol and Hb levels were significantly lower in patients with gastric cancer than in the healthy subjects, which seemed to be linked to the progression of gastric cancer. Therefore, further study is required for the serum cholesterol and Hb levels to be used as markers in cancer screening and its progression, in patients with gastric cancer.
Cholesterol* ; Coronary Artery Disease ; Early Detection of Cancer ; Humans ; Mortality ; Nutritional Status ; Retrospective Studies ; Stomach Neoplasms*

Background and Objectives: In patients with atrial fibrillation (AF), females taking vitamin K antagonist are at higher risk of stroke or systemic embolism (SSE), bleeding and all-cause death than males. This study investigated the relationship between sex and adverse clinical events in a contemporary AF patient cohort taking anticoagulation. Methods: This prospective multicenter AF registry study comprised 6,067 patients with AF (mean age, 70±9 years; men, 59%) with intermediate to high risk of stroke (CHA 2 DS 2-VAscore ≥1) and receiving oral anticoagulation therapy. Adverse clinical outcomes, including SSE, bleeding, death were evaluated in patients stratified by sex and anticoagulation patterns. Results: Women were older and used more direct oral anticoagulants (85% vs. 78%, p<0.001) than men. During a median (25 the and 75 the percentiles) follow-up of 30 (24, 38) months, the incidence rate and risk of SSE (0.7 in women vs. 0.7 in men per 100 person-years) and major bleeding (0.1 in women vs. 0.1 in men per 100 person-years) were not different between the sexes. However, women had a lower all-cause death rate (0.4 in women vs. 0.6 in men per 100 person-years, hazard ratio: 0.48, 95% confidence interval: 0.25–0.91, p=0.025) than men. Conclusions In contemporary anticoagulation for AF, SSE and major bleeding risks did not differ between sexes. However, women showed a lower risk of all-cause death rate than men, indicating that the use of oral anticoagulants for treating AF in females does not appear to be a risk factor for adverse clinical events.