Familial spontaneous pneumothorax in three generations and its HLA

We experienced a case of familial spontaneous pneumothorax in three generations. Six of 13 family members had episodes of spontaneous pneumothorax. It is well established that there are some diseases associated with human leukocyte antigen (HLA). We performed HLA phenotyping for HLA of A, B and C. In our study, we detected the HLA haplotype A2, B61 in three of 4 who had episodes of spontaneous pneumothorax. The HLA haplotype A2, B70 were also detected in three of 4 who had episodes. This suggests that familial spontaneous pneumothorax might have hereditary factors.     

CT findings in panacinar emphysema]

We analyzed the CT images (in vivo) of 5 lobes (right middle lobe, 1; left lower lobe, 1; right lower lobe, 3) with panacinar emphysema (PAE) obtained at autopsy or thoracotomy for solitary lung tumor. The lobes were inflation-fixed by the method of Heitzman and sliced axially for a CT-pathologic correlative study. One lobe with mild PAE had normal appearance on CT; however, the other four lobes with PAE demonstrated low-attenuation areas (LAAs) of various shapes and sizes on CT. LAAs were locally distributed on CT slices in one lobe, dominant in the inner zones in two lobes, and diffuse in one lobe. Relatively normal to diminished vasculature was observed within the LAAs of four lobes. These CT findings differed significantly from those of centriacinar emphysema (CAE) as reported in other studies. We conclude that CT is useful in the clinical diagnosis of PAE and its differentiation from CAE.     

Isolated tricuspid valve stenosis caused by infective endocarditis in an adult: Report of a case

We report herein the case of a 42-year-old man in whom dyspnea on exertion was found to be caused by isolated tricuspid stenosis. Two-dimensional echocardiogram showed thickening of the tricuspid valve with a markedly enlarged right atrium. A color-flow Doppler examination-revealed severe tricuspid stenosis without regurgitation and a Doppler-derived tricuspid diastolic pressure gradient of 23 mmHg. At the time of surgery, the patient was noted to have a stenotic tricuspid valve with thickened leaflets, fused commissures, and almost normal chorda tendineae. The valve leaflets were teased apart to the scattered specimen, and tricuspid valve replacement was successfully performed. Microscopic examination of the specimen demonstrated infective endocarditis. Isolated acquired tricuspid stenosis is extremely rare and, to our knowledge, this is the first case of infective endocarditis being involved as the primary cause.     

Effect of ureteral obstruction on proximal tubular functions of rat kidney

The effect of complete unilateral ureteral obstruction (CUUO) on proximal tubular functions was studied in rats, using the K+-sensitive microelectrode technique and split oil drop method. In the control kidneys peritubular membrane potential (EMperi) and intracellular potassium activity (aKi) were -70.8 +/- 7.0 mV and 81.2 +/- 22.0 mEq/liter (mean +/- SD), respectively. In the CUUO kidneys both EMperi and aKi were progressively reduced with the duration of obstruction. However, in all tubules aKi values were still above the electrochemical equilibrium. In the three days' CUUO kidneys EMperi and aKi were -51.5 +/- 11.7 mV and 53.8 +/- 22.8 mEq/liter, respectively. Rate of fluid absorption (JVL;nl./sec. mm.) across the proximal tubular epithelium from Ringer solution in the control and three days' CUUO kidneys was 0.029 and 0.0065 respectively. In the CUUO kidneys there were wide variations in JVL and EMperi, but there was a clear correlation between these two variables. JVL from choline chloride solution was negligible in both control and CUUO kidneys. From above results, it was suggested that the proximal tubular reabsorption primarily depending on the Na+-K+ pump might be reduced but still working in the CUUO kidney, and thus the proximal tubular reabsorption might take part in preservation of glomerular filtration during the obstruction.     

Strategies for occult urinary blood in annual health examination]

Although occult urinary blood in health examinations is common in healthy employees, in the majority with occult urinary blood usually no further examination or treatment is necessary, but occult urinary blood could be an early symptom in urinary tract malignancy. In this study the data on health examinations of male employees with occult urinary blood were analyzed from 1999 to 2002 and strategies for them were discussed. The subjects were male employees working in a steel company, 1,135 ('99), 1,077 ('00), 994 ('01) and 945 ('02). The positive ratios of occult urinary blood were 8.6% in '99, 7.6% in '00, 7.8% in '01, 8.3% in '02, respectively. Multiple logistic regression analysis showed that age and urinary protein were significant factors associated positively with occult urinary blood. In general, a man who had urinary tract malignancy would have macroscopic hematuria in the course of the disease. Therefore, in people with recurrent occult urinary blood the risk of urinary malignancy is considered to be rare. The follow-up protocol was set up for employees with occult urinary blood. For four years 6 employees were referred to specialists (5 to a urologist and 1 to a nephrologist). No significant disease, including urinary tract malignancy, was detected.     

Sensitive Detection of p53 Gene Mutations in Esophageal Endoscopic Biopsy Specimens by Cell Sorting Combined with Polymerase Chain Reaction Single-strand Conformation Polymorphism Analysis

For the rapid and sensitive detection of p53 gene mutations in esophageal endoscopic biopsy specimens, we combined cell sorting with the polymerase chain reaction and single-strand conformation polymorphism (PCR-SSCP) analysis. Mutations in exons 5–8 of the p53 gene were investigated by FCR-SSCF analysis using 10³ sorted nuclei obtained from each endoscopic biopsy specimen of 16 patients with esophageal cancer. DNAs extracted from their respective surgical specimens were investigated by a conventional method of PCR-SSCP analysis. Mutations in the biopsy specimens were detected in 6 of the 12 aneuploid tumors but in none of the 4 diploid tumors. After tumor cell enrichment by cell sorting, one mutation in exon 8 became apparent, which could not be detected from the surgical specimen by a conventional method of PCR-SSCP analysis. This method should improve the sensitivity of detecting p53 gene mutations, and provides additional information concerning the DNA ploidy pattern in the tumors.