Aneurysm of the gastroduodenal artery.

We report a case of gastroduodenal arterial aneurysm incidentally discovered by abdominal ultrasonogram, in which three-dimensional computed tomography (3D-CT) was useful for diagnosis. An 85-year-old man was hospitalized because of fever and liver dysfunction. Carcinoma of the papilla of Vater was diagnosed by endoscopic retrograde cholangio-pancreatography, while abdominal ultrasonogram and CT scan revealed a round mass measuring 6.2x4.1 cm on the ventral side of the pancreatic head. Three-dimensional CT demonstrated that the mass arose from a branch of the common hepatic artery and projected downward, indicating a gastroduodenal arterial aneurysm. During pancreatoduodenectomy and aneurysmectomy, it was confirmed that this aneurysm arose from the gastroduodenal artery.

Identification of a single cytosine base insertion mutation at Arg-597 of the beta subunit of the human epithelial sodium channel in a family with Liddle's disease.

We describe a family with Liddle's disease caused by a novel mutation of the beta subunit of the human epithelial sodium channel (ENaC). A 15-year-old Japanese female was referred to our outclinic because of hypertension. The physical examination showed no abnormal findings except mild hypertension, but the laboratory data revealed low levels of plasma renin activity, plasma aldosterone and serum potassium. A comprehensive analysis of steroid hormones showed only high levels of urinary free cortisol and 17-hydroxycorticosteroids. During loading tests, blood pressure and serum potassium responded well to triamterene and slightly to spironolactone, but did not respond to dexamethasone. In addition, the normal ratio of tetrahydrocortisol plus 5alpha-tetrahydrocortisol to tetrahydrocortisone in a 24 h urinary excretion test strongly suggested a diagnosis of Liddle's disease rather than apparent mineralocorticoid excess syndrome. DNA sequence analysis of members of this family revealed a single cytosine base insertion at Arg-597 of the beta human ENaC in the proband and her mother, leading to a loss of the last 34 amino acids from the normally encoded protein as the result of a frameshift. We conclude that a de novo cytosine insertion into the final exon of the C-terminus of the beta human ENaC is responsible for Liddle's disease in this Japanese family.

An adult case of Cockayne syndrome without sclerotic angiopathy.

We report an autopsy case of Cockayne syndrome (CS). A 40-year-old Japanese woman was admitted to our hospital for cachexia. She had displayed the striking features of CS, including dwarfism, mental retardation, neural deafness, ataxia, intracranial calcifications, and progeria since her childhood. Endocrinological examinations suggested normal pituitary function and a disorder of the hypothalamus or the cerebrum. She died of acute pneumonia at the age of 42. Autopsy findings showed typical abnormalities in the central nervous system compatible with CS; however, no atherosclerotic change was observed in the systemic arteries.

Hypogenesis of right hepatic lobe accompanied by portal hypertension: case report and review of 31 Japanese cases.

We report a rare case of hypogenesis of the right lobe of the liver with portal hypertension and a review of 31 cases of agenesis or hypogenesis of the right hepatic lobe reported in Japan. A 74-year-old man consulted our hospital for further examination after a mass screening for gastric cancer. On physical examination liver enlargement was palpable, but liver function tests were normal. Abdominal ultrasonography, computed tomography, technetium-99m liver scintigraphy, and endoscopic retrograde cholangiopancreatography revealed a small right hepatic lobe and moderate splenomegaly, in contrast to a hypertrophic lateral segment of the left hepatic lobe, as well as ectopic dislocation of the gallbladder. Endoscopic examination revealed esophageal varices, indicating portal hypertension. Abdominal angiography demonstrated mild shunt flow between the hepatic artery feeding from the gastroduodenal artery and the portal vein. A biopsy specimen taken from both lobes of the liver showed normal liver tissue histologically. Based on these findings, we made a definite diagnosis of hypogenesis of the right lobe of the liver with portal hypertension. The present case appears to be the first such case accompanied by portal hypertension reported in Japan.

Thyrotropin-releasing hormone release in normal and hyperthyroid rats as measured by microdialysis.

To measure the thyrotropin-releasing hormone (TRH) release from the hypothalamus in euthyroid and hyperthyroid states, we investigated the changes in TRH levels in the anterior pituitary of conscious male rats using an in vivo microdialysis technique. In the euthyroid rats (n = 18), TRH levels in the extracellular dialysates of the anterior pituitary varied from 1.0 to 101.0 pg/ml in a pulsatile fashion: 15.9 +/- 13.9 (mean +/- SD) pg/ml with 5.8 +/- 1.5 pulses/24 h. In the hyperthyroid rats (n = 5) who received L-thyroxine at 10 micrograms/100 g body weight for 7 days, TRH levels in the dialysates during 6 h was 3.6 +/- 1.7 pg/ml, and significantly lower (P < 0.05) than those of the control rats (15.5 +/- 14.1 pg/ml); the pulse frequency was unchanged. These findings demonstrated for the first time the existence of pulsatile TRH release from the hypothalamus, and showed that thyroid hormone inhibits TRH release by the reduction of pulse amplitude, but not of pulse frequency.

Effects of thyroidectomy on thyrotropin-releasing hormone (TRH) and somatotropin release-inhibiting factor (SRIF) patterns in intrahypophysial microdialysates in rats.

The effects of thyroidectomy on patterns of TRH and somatotropin release-inhibiting factor (SRIF) release from the hypothalamus were investigated by using a microdialysis technique. Thyroidectomized and sham-operated rats underwent placement of a guide cannula into the anterior pituitary gland to obtain dialysates, or implantation of an intravenous cannula into the right atrium for blood sampling. Seven days postoperatively dialysates were collected at a flow rate of 2 microliters/min every 1 h. TRH concentrations in dialysates from thyroidectomized rats (0.43 +/- 0.2 pg/h) were significantly higher than those from control rats (0.17 +/- 0.02 pg/h). In contrast, SRIF concentrations in dialysates from thyroidectomized rats (2.45 +/- 0.05 pg/h) were significantly lower than those from control rats (3.80 +/- 0.22 pg/h). In addition, plasma TSH concentrations in thyroidectomized rats (24.8 +/- 0.5 ng/ml) were increased compared with those in control rats (2.5 +/- 0.1 ng/ml), and plasma GH concentrations were decreased from 68.6 +/- 6.4 ng/ml in control rats to 21.2 +/- 0.6 ng/ml in thyroidectomized rats. These findings indicate that TRH and SRIF releases from the hypothalamus are detectable by microdialysis method, and directly show the increase in TRH secretion and the decrease in SRIF secretion from hypothalamus in the hypothyroid state.

[Preoperative diagnosis of unroofed coronary sinus: a case report].

A 54-year-old man was admitted to our hospital because of exertional dyspnea. A second heart sound with fixed splitting and a systolic ejection murmur along the left sternal border was audible. The chest roentgenogram showed increased pulmonary vascularity, and the electrocardiogram showed incomplete right bundle branch block. Two-dimensional echocardiography in the parasternal view demonstrated a partition defect between the left atrium and the coronary sinus. Furthermore, transesophageal echocardiography revealed a left-to-right shunt flow into the coronary sinus through the defect. At these points, the patient was diagnosed as having a partially unroofed mid-portion of the coronary sinus. Unroofed coronary sinus is a cardiac anomaly rarely diagnosed prior to surgical operation. Two-dimensional echocardiography, especially transesophageal echocardiography, is useful for the preoperative diagnosis of unroofed coronary sinus.