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Recently, the substitution of proline 250 by arginine in the fibroblast growth factor receptor 3 (FGFR3) gene, has been identified in patients with craniosynostosis and defines a new syndrome on a molecular basis. We report a 1-year-1-month-old female with bilateral coronal craniosynostosis who had the P250R mutation in FGFR3 gene detected by DNA sequencing. She had brachycephaly, temporal bossing, high and flat forehead, hypertelorism, mild proptosis, low set ears and no digital abnormalities. She underwent surgical repair at 7 months and her cosmetic problems were improved. Her development was normal up to 13 months of age. DNA analysis from her parents showed that her father had the same mutation. The phenotypes of the P250R mutation in the FGFR3 syndrome are variable even within the same family, but main characteristic clinical features are follows, 1) lateral or bilateral coronal craniosynostosis, 2) mild hand and foot anomalies, and 3) sensory deafness. In FGFR3 syndrome the diagnosis of P250R mutation by polymerase chain reaction (PCR) is very easy and important for early diagnosis and genetic counseling.

Background: The objects of this study is to evaluate the clinical prognostic factors in renal cell carcinoma., Materials and Methods: During a 30-year period from January 1965 to December 1994, 1301 cases with renal cell carcinoma were treated at the Yokohama City University Hospital and its affiliated hospitals. In these cases, cause specific 679 cases from January 1965 to December 1990 were analyzed in a study undertaken to investigate long-term treatment results and clinical prognostic factors., Results: 1. The cause specific 5-, 10-, 15-, and 20-year survival rates were 48.7%, 41.1%, 32.3%, and 26.5% respectively, indicating thus that a great number of cases had an ominous prognosis even 5 years or moreafter surgical treatment. 2. Among patients under 40 years of age (n = 29) none died more than 2 years after receiving operation, the prognosis for this particular group of cases being relatively good. 3. Female, incidentally detected cancer, small tumor size (< or = 4.0 cm), slow growing type and low stage were proven to be favourable prognostic factors in renal cell carcinoma. 4. The cause specific 5-year survival rate for the patients (n = 239) from 1965 to 1981 was 33.8%, while the rate for the patients (n = 440) from 1982 to 1990 was 56.5%. This improvement of survival rate was brought by the increase of the incidentally detected renal cell carcinoma. 5. In the incidentally detected renal cell carcinoma, the incidence of slow growing cases and the cases of less than 4.0 cm tumor size were higher than in the symptomatic renal cell carcinoma. 6. Multivariate analysis using Cox's proportional hazard model showed that stage was the most important prognostic factor., Conclusions: These results suggested that sex, age, symptom, tumor size, growing type, and stage were important prognostic factors in renal cell carcinoma.

To provide evidence on renal gluconeogenesis in humans and to compare with rats and rabbits, glucose production from several substrates was determined using cortical slices of the three species. In humans, the normal parts of kidney tissue were obtained from six cases of transitional cell carcinoma of the renal pelvis and four cases of renal cell carcinoma. Renal cortical slices were incubated aerobically with or without substrates, and the glucose contents were assayed photometrically. The specificity of human kidneys was evaluated by comparison with the results obtained from rats and rabbits. The rank order of renal gluconeogenesis from various substrates was as follows: Humans: pyruvate > oxaloacetic acid > lactic acid > fructose-1,6-diphosphate > L-glutamine. Rats: pyruvate > fructose-1,6-diphosphate > oxaloacetic acid > lactic acid > L-glutamine. Rabbits: fructose-1,6-diphosphate > pyruvate > oxaloacetic acid > lactic acid >> L-glutamine = 0. In general, the human kidney can produce glucose at the lowest rate among the three species. The substrate specificity of humans was more or less similar to that of rats. These results suggest the existence of a species difference in renal gluconeogenesis both in substrate specificities and quantitative activities.

Lipids from Helicobacter pylori were extracted, isolated by conventional DEAE-Sephadex and silica gel column chromatography, and then purified by preparative thin-layer chromatography. Simple and phospholipids were analyzed by HPTLC and quantitatively determined by densitometry scanning. The fatty acid compositions of simple lipids were estimated by gas-liquid chromatography. The simple lipid composition of H. pylori consisted of wax ester (2.5%), triglycerides (4.9%), free fatty acids (30.0%), cholesterol (6.9%), diacylglycerol (29.1%), and monoacylglycerol (2.6%). The neutral phospholipid composition consisted of phosphatidyl ethanolamine (79.1%), lysophosphatidyl ethanolamine (16%), and phosphatidyl choline (1.9%). That of acidic phospholipids consisted of phosphatidic acid (52.7%) and phosphatidyl serine (47.3%). The major fatty acids of crude lipid, wax, free fatty acids, triglycerides, diacylglycerides, and monoacyl glycerides were C19:1 (cyclo), C18:2, C16:0, C19:1 (cyclo), C22h:0, and C18:0, respectively. These results are new findings and suggest significant characteristics from the metabolic, physiologic, and chemotaxonomic point of view.

Two protocols were scheduled for in vitro fertilization and embryo transfer (IVF-ET) in patients with various stages of endometriosis who were resistant to conventional therapies. In the ultralong protocol (21 patients), gonadotropin releasing hormone agonist (Gn-RHa) was administered for at least 60 days prior to ovarian stimulation along with menotropin until human chorionic gonadotropin was injected. In the long protocol (11 patients), Gn-RHa was started at the midluteal phase and exogenous gonadotropin was commenced between the third and the seventh day of the menstrual cycle after pituitary suppression. The estradiol response and the number of retrieved oocytes, fertilized oocytes, cleaved oocytes, and transferred embryos were similar in both groups but the clinical pregnancy rate per transfer was superior in the ultralong protocol (67 vs 27%). The miscarriage rate was 14% (2/14) in the ultralong protocol. Prolonged Gn-RHa suppression of ovarian function before superovulation may overcome some causes of infertility in patients with endometriosis.

We experienced the anesthetic management of a hemophilia A carrier for two palliative operations (left and right unifocalization) and radical repair of cardiac anomaly. The patient was a ten-year-old girl and her father had hemophilia A. She was diagnosed as tetralogy of Fallot, major aortopulmonary collateral arteries and pulmonary atresia. Laboratory findings showed prolonged bleeding time and activated partial thromboplastin time, and decreased levels of factor VIII activity of 26%. When she was eight and nine years old, she underwent unifocalization. At both occasions, excessive bleeding tendency continued into postoperative period. This time she underwent radical repair in which her bleeding tendency was successfully controlled by use of a usual dose of concentrated factor VIII for twice.

The concentrations of free fatty acids in plasma were estimated in thirty-three subjects, before and after (24 hours and 72 hours) the start of bromazepam oral administration in a daily dose of 6 mg (1.5 mg at 7 a.m., 1.5 mg at 3 p.m. and 3 mg at 11 p.m.). A fourth estimation was performed 72 hours after drug discontinuation. A control group of twelve subjects received a placebo according to the same dosage pattern. In comparison with the first estimation, the subsequent free fatty acid values showed a significant decrease (p less than 0.05, p less than 0.05 and p less than 0.001, respectively), whereas the control group showed no significant decrease (p greater than 0.05). The aim of the present article is to present the results of the three day-standard oral administration of bromazepam on free fatty acid concentration of plasma. All the samples, including the control group, were taken from a population free from any disease affecting adipose tissue metabolism.

The C4 complement component was measured in CSF from 10 patients without CNS involvement (controls) and 71 with various meningeal and neurological diseases. Serum C4 was also measured in the control group and in 46 of the 71 neurological patients. A significant increase of CSF C4 was observed in all neurological diseases with meningeal involvement independent of the causative agent. Inversely, serum C4 values were within normal limits. Increased CSF C4 with normal serum levels might indicate increased diffusion across the blood-brain barrier, decreased ability for immunocomplex production or increased local production.