Familial Juvenile Nephronophthisis in Two Siblings — Histological Findings at an Early Stage —

We present two female siblings with familial juvenile nephronophthisis (FJN) which was diagnosed at the early stage of renal failure. Diagnosis was made during the investigation of anemia in case 1 and by a subsequent family survey in case 2. Most patients with FJN are not identified until the terminal stage of renal failure and such cases have rarely been reported in Japan. Case 2 had a reduction in the maximum urinary concentration ability but no azotemia, and among the FJN patients reported in Japan so far she has the least advanced renal disease. Histological examination of the renal biopsy in case 1 showed typical findings of FJN, such as thickening and lamination of the tubular basement membrane (TBM), interstitial fibrosis, and round cell infiltration of the interstitium. In case 2, renal biopsy revealed an irregular marked thickening of the TBM with trivial interstitial changes and a normal glomerular appearance. The histology of these two cases suggests that the TBM may be the primary site affected in FJN.     

CT and MR findings in diastematomyelia, with embryogenetic consideration.

Diastemstomyelia is an extremely rare disorder that is seldom found among the Japanese. This paper presents two Japanese patients, a newborn male and a newborn female, with diastematomyelia. CT demonstrated bony spurs more clearly than plain film, and magnetic resonance images indicated split cords and associated anomalies. Although the embryogenesis of diastematomyelia has not been clearly elucidated, the coincidence of levels of associated anomalies and diastematomyelia in our cases and in the literature supports Bremer's embryogenetic explanation of persistent accessory neurenteric canal.     

Evaluation of renal first pass blood flow with a functional image technique in hypertensive patients

The renal circulation of patients with essential hypertension and renovascular hypertension was evaluated using ^99mTc-DTPA. The first renal peak count (the first C_max; FC_max), time phase distribution (the first T_max; FT_max), and blood velocity (the FC_max/FT_max) were calculated by digital imaging. This yields a visual image of the renal circulation. We consider that the increase in the renal first pass blood flow in patients with essential hypertension is best observed pixel by pixel. The FC_max and FC_max/FT_max images before and after treatment by percutaneous transluminal renal angioplasty in patients with renovascular hypertension clearly show its therapeutic effect. The FI technique, therefore, has the advantage that it can be performed at the same time as the conventional routine examinations of renal function. This makes it very useful clinically.     

Arrhythmogenic right ventricular dysplasia/cardiomyopathy assessed with 64-slice computed tomography

A 69-year-old man was admitted to hospital because of sustainedventricular tachycardia with right bundle branch block morphology.After abolition of ventricular tachycardia, an electrocardiogramshowed atrial fibrillation, complete right bundle     

Detection of liver fibrosis with magnetic cross-relaxation

The utility of MRI using magnetization transfer (MT) enhanced pulse sequences to diagnose hepatic cirrhosis in a rat model was investigated. Hepatic T₁ was measured with and without MT off-resonance RF pulses in 17 treated and six control rats. The livers were evaluated histologically, and the hydroxyproline content quantitatively measured. We did not find a statistically significant linear correlation between the MR relaxation times and the degree of tissue injury. However, the MR measurements performed with MT were superior to those without differentiating the treated and control groups. Specifically, the T₁ times were 695 ±76 ms for the treated group, versus 748 ± 61 ms in the controls; P= 0.095. The T_1sat times were also lower in the treated group, with statistical significance: 367 ± 51 ms versus 421 ± 38 ms, P = 0.016. Finally, the change in the relaxation rates (the inverse of the relaxation times) with and without saturation were 1.31 ± 0.22 s^?1 (treated group) versus 1.05 ± 0.12 s^?1 (controls), which differed significantly, P= 0.001.     

Localization of proteins immunologically related to erythrocyte protein 4.1, spectrin and ankyrin in thyroid gland.

Analogues of erythrocyte protein 4.1, spectrin and ankyrin were examined in the thyroid gland of pig and rat by immunohistochemical techniques. Analysis with immunofluorescence microscopy revealed that the peripheral cytoplasm and apical-lateral plasma membrane of follicle epithelial cells of thyroid glands were stained with antibodies against erythrocyte protein 4.1, spectrin, or ankyrin. The results indicate that membrane skeletal protein lattice might exist in thyroid follicle epithelial cells.     

Ultracytochemistry of glucose-6-phosphate dehydrogenase in adrenal gland.

The distribution of glucose-6-phosphate dehydrogenase (G6PD) activity has been studied by a copper ferrocyanide method in the adrenal cortex cells of a rat. The site of the G6PDH activity was close to the ribosome between the round mitochondria of zonas fasciculata and reticularis.     

Localized wall thickening of the gallbladder mimicking a neoplasm

Clinical diagnosis of chronic cholecystitis is made based on diffuse hyperechoic thickening of the gallbladder wall as shown by ultrasonographic examination. We herein report three cases of chronic cholecystitis showing localized hypoechoic thickening of the gallbladder wall that mimicked gallbladder cancer by ultrasonography. Histologically, hypertrophy of the muscularis propria was a common characteristic finding in these three patients. A smooth surface of the inner hypoechoic layer of the thickened wall was considered to be a reliable finding in the differential diagnosis between this type of chronic cholecystitis and gallbladder cancer.     

Clinical results of staged repair with complete unifocalization for pulmonary atresia with ventricular septal defect and major aortopulmonary collateral arteries.

OBJECTIVE: Our treatment strategy for pulmonary atresia with ventricular septal defect (VSD) and major aortopulmonary collateral arteries is a staged repair that comprises the first complete unifocalization (UF) with 'unification' of intrapulmonary arteries and then the definitive repair. The purpose of this study is to evaluate the outcome of our staged repair strategy with complete UF and to determine the results of our current management strategy. METHODS: From 1982 to 2004, 113 consecutive patients were treated with staged repair at our institute. We evaluated the risk of definitive repair failure or death in the 3 years after definitive repair using logistic regression. Furthermore, we compared the early group (patients who underwent UF before December 1995) and the late group (patients who underwent UF after January 1996). RESULTS: The mean follow-up interval was 8.8 years (0.8 months to 23.3 years), and Kaplan-Meier-estimated overall survival rates after first UF were 80.9, 73.8, and 69.9% at 5, 10, and 15 years, respectively. Survival in patients with an absent central pulmonary artery (PA) was significantly lower than in those with a central PA (p<0.05), and the factor that was significantly associated with definitive repair failure or death in the 3 years after definitive repair was central PA morphology (p<0.05). Higher mean PA pressure after UF was detected in patients with hypoplastic central PA, compared with those without hypoplastic PA (30.9 mmHg vs 23.3 mmHg, p<0.05). In the late group, age (in years) at first UF (3.9 vs 8.4, p<0.01), second UF (4.3 vs 9.2, p<0.01), and definitive repair (5.8 vs 9.1, p<0.01) was significantly younger than in early group, and the survival rate after first UF in the late group was 96.2 and 91.3% at 3 and 7 years, respectively. Systolic right ventricular pressure and the pressure ratio between the right and the left ventricles after definitive repair in the late group were significantly lower than in the early group (53.6 mmHg vs 75.0 mmHg, p<0.01; 61.7% vs 75.9%, p<0.05). CONCLUSIONS: Hypoplastic central PA was a significant risk factor in this disease. The overall survival was improved by our current management strategy. Improved RV pressure after definitive repair appears to affect the long-term outcome.