Retrospective survey of urea cycle disorders: Part 1. Clinical and laboratory observations of thirty-two Japanese male patients with ornithine transcarbamylase deficiency

In a retrospective survey done from 1978-1988 in Japan, 32 male patients with ornithine transcarbamylase (OTC) deficiency were identified. We classified a neonatal and 2 late-onset groups, depending on clinical manifestations and the age at onset; group 1 (0-28 days; N = 10), group 2 (29 days-5 years; N = 13), and group 3 (greater than 5 years; N = 9). Compared to findings in the group 2 patients, there was a higher rate of mortality and a higher incidence of mental retardation in association with a great decrease in enzyme activity in group 1. In group 3, the mortality rate and enzyme activities were similar to those in group 1. However, patients in this group were asymptomatic prior to the first episode. Enzyme activities were measured mostly in autopsy samples. The serum citrulline levels (enzyme product) were highest in this group. Thus, the mutant enzymes were apparently labile with greater activities in vivo than in vitro. Treatments, including a protein-restricted diet, arginine supplementation, and sodium benzoate administration, resulted in a favorable prognosis for survivors with partial enzyme deficiency. We wish to emphasize that the incidence of late onset of this disease is higher than heretofore considered.     

α2-Adrenergic receptor subtype alterations in the brainstem in the sudden infant death syndrome

Background: The sudden infant death syndrome (SIDS) is still the main cause of postneonatal infant death. However, the causes and mechanisms of SIDS have never been completely elucidated. Catecholamines, via α2-adrenergic receptor (α2-AR) interactions, are known to influence brainstem autonomic and respiratory activity. Aims: To examine the catecholaminergic system abnormalities in SIDS victims, we investigated the alterations of α2-AR subtypes. Subjects and methods: We examined the developmental changes of α2-AR subtypes in the brainstem, especially in cardiorespiratory nuclei, in 21 SIDS victims and 17 age-matched controls by means of immunohistochemical methods. For statistical analysis, the χ²-test or Fisher’s exact probability test was performed. Results: There was a significant decrease in α2A-AR immunoreactivity in the solitary nucleus and ventrolateral medulla (VLM) in the medulla oblongata in SIDS victims compared with in control cases, but there were no significant differences of the α2B and α2C-AR immunoreactivity in the brainstem between SIDS victims and controls. Conclusion: α2A-AR immunoreactivity was selectively decreased in the solitary nucleus and VLM in the medulla oblongata in SIDS victims, so there was no possibility that it was secondary to chronic hypoxia or repeated ischemia. It may be related to some impairment of the cardiorespiratory neuronal system. Therefore, SIDS victims may be vulnerable to asphyxia, hypoxia, and/or hypercapnia, and fail to exhibit brainstem responses.     

Generation of peroxynitrite and apoptosis in placenta of patients with chorioamnionitis: possible implications in placental abruption

The reaction of nitric oxide (NO) and superoxide results in the formation of peroxynitrite, a potent and relatively long-lived oxidant. In infectious diseases, these molecules are not only bactericidal but also toxic to host cells. Chorioamnionitis is often complicated by premature rupture of membranes and can be associated with placental abruption. These diseases are significant causes of premature low-birth-weight deliveries and consequently the morbidity and mortality of neonates. Lipopolysaccharide, bacterial endotoxin, is known to be elevated in the amniotic fluid of patients with chorioamnionitis. Lipopolysaccharide is known to induce the formation of NO and superoxide. We report here that nitrite/nitrate, stable metabolites of NO, were increased in serum from patients with chorioamnionitis. Immunohistochemical studies demonstrated enhanced expression of inducible NO synthase and formation of nitrotyrosine, a footprint of peroxynitrite, in the placentae from patients with chorioamnionitis and also in patients with placental abruption. Furthermore, apoptotic cell death was also increased in the placentae from patients with both diseases. These results suggest that chorioamnionitis and a portion of placental abruption may share a common cascade of placental injury. Nitric oxide and its metabolities may play an important role in this cascade.     

I-J as an Inducible T Cell Receptor for Self

"Jedenfalls, wenn man davorsteht, dann sieht man sich selbstaber eben nicht wie in einem gewöhnlichen Spiegel, versteht sich. Man sieht nicht sein Äusseres, sondern man sieht sein wahres inneres Wesen. so wie es in Wirklichkeit beschaffen ist. Wer da durch will, der muß - um es mal so auszudrücken -in sich selbst hineingehen."
Die undendliche Geschichte, bei Michael Ende, K. Thiehemanns Verlag, Stuttgart, 1979.     

Clinical study on long-term cinoxacin therapy for outpatients with chronic complicated urinary tract infections

Cinoxacin was administered to 30 outpatients with chronic complicated urinary tract infection for 57.3 days (average) and the following results were obtained. Clinical efficacy based on decrease of pyuria were "excellent" in 44.8%, "good" in 31.0%, "fair" in 24.1%, and "poor" in 0%; and, overall effectiveness rate reached 75.9%. As for side effect, diarrhea and nausea were observed in 2 and 1 patients, respectively. GOT and GPT elevation was also seen in one case. Cinoxacin long term therapy seems to be effective and useful to chronic complicated urinary tract infections.     

Chronic empyema: key-point and results of our one-step operation

A new operative method named as "Extraperiosteal air plombage" against chronic empyema were performed to 80 patients and its cure rate by the first operation was 93.8% which is a good and high rate. Know-how to perform the operation without failure is (1) to complete the excoriation of the pleural debris, (2) to seal completely the leakage such as bronchiolar fistula, (3) to perform the extraperiosteal abbration rather over much to attach the lung to the muscle layer, (4) to close the chest wall completely, and (5) to wash out thoroughly the extraperiosteal cavity with brush and enough saline solution and to use the effective antibiotica.     

Percutaneous burrhole trephination of the skull: a study of 519 cases

We want to report on our experiences with the percutaneous trephination using a 2.35 mm round dental drill with serrated saws around it, a Rosenbohrer. It is a methodically similar activity as described by J. Zentner [11].From 1981 to 1992 519 patients were treated and 546 trephinations were performed.At the beginning this treatment was only used in connection with intracerebral bleedings and biopsies.In a considerable short time the indication could be extended to the subdural hematoma, tumor cyst, obstructive hydrocephalus as well as to the abscess and the subdural epyema.The rate of infection was 1.28% and the risk of bleeding 0.36%.In our opinion the advantages of this small electrical trephination are the easy handling, the universal use and mobility and the avoidable risk of anesthesia as well as the sterilisation at the same time and the stopping of blood, caused by the contact surface friction.     

Rathke cleft cyst: MR and biomedical analysis of cyst content

PURPOSE: At least one type of Rathke cleft cyst has unique MR findings, specifically, high intensity on T1-weighted images and iso- to low intensity on T2-weighted images relative to white matter. To clarify the influence of cyst content on MR images, we analyzed the cyst content by biomedical methods after surgical removal. METHOD: We studied five patients diagnosed with Rathke cleft cyst, whose MR images showed high intensity on T1-weighted images and iso- to low intensity on T2-weighted images. After surgery, total protein and cholesterol levels were quantified, and correlations of protein and cholesterol content with T1 and T2 signal intensities were performed in vitro. RESULTS: All five cysts had very high concentrations of protein (11,700-26,600 mg/dl, mean 17,940 mg/dl) with nearly no cholesterol (at most 2.0 mg/dl). Along with increases in protein concentration in vitro, the signal intensity of T1-weighted images increased, while that of T2-weighted images decreased. In contrast, the cholesterol concentration sequence influenced the signal intensity of neither T1- nor T2-weighted images. CONCLUSION: The unique MR finding of Rathke cleft cysts--high signal intensity on T1-weighted images and low signal intensity on T2-weighted images--might depend mainly on protein concentration, not on cholesterol.     

Endosonography during endoscopic mucosal resection to enhance its safety

BACKGROUND: We have performed endoscopic mucosal resection of the esophagus (172 cases), stomach (102 cases), and colon (28 cases) using a transparent plastic cap. Because the lesion-bearing mucosa is suctioned up inside the cap under endoscopic suction, the mucosa should be dissected sufficiently from the proper muscle layer to prevent perforation. METHODS: To avert the risk of perforation, we introduced endosonographic assessment of submucosal dissection (47 cases). In all cases, just keeping the ultrasonic probe on the surface of the mucosa allowed us to evaluate whether the mucosal lesion was lifted up sufficiently from the proper muscle layer after local saline injection. RESULTS: It was possible to confirm that the muscle layer was kept outside the strangulating snare by the same procedure (32 of 37 cases, 86.5%). CONCLUSIONS: We experienced five muscular resections in cases without the ultrasonic probe and no muscular resection with the ultrasonic probe. Thus we recommend endosonographic assessment during endoscopic mucosal resection to enhance its safety.