[The efficacy of a tissue adhesive agent (BI 0.022) in urinary tract surgery--application to pyelo- and ureterolithotomy].

To evaluate the effect of a tissue adhesive agent (BI 0.022) on renal pelvic and ureteral surgery, the adhesive was applied for 44 patients with urolithiasis. The conventional suture method was performed in 87 patients as a control. The tissue adhesive is composed of fibrinogen, thrombin, factor XIII, aprotinin and CaCl2. The number of sutures for closure of the incision made on the rental pelvis and the ureter was significantly reduced by the use of the tissue adhesive (p less than 0.01). There was no tendency of increase in urinary leakage following the application of the method in comparison with the control. Furthermore, it was noteworthy that 10 in cases with less than a 1 cm ureteral incision were completely closed by the use of the adhesive agent. This tissue adhesive agent should be valuable for renal pelvic and ureteral surgery as a simple substitute for the conventional suture method.

[Long-term administration study of propiverine hydrochloride (BUP-4 tablets) in pollakiuria and urinary incontinence].

The safety and efficacy of one-year administration of propiverine hydrochloride (BUP-4 tablets) were assessed in facilities affiliated with the Department of Urology of Yokohama City University School of Medicine. Changes in subjective symptoms showed significant improvement in mean frequency of urination in the daytime from 10.3 +/- 4.0 times before administration to 7.1 +/- 2.9 times 1 year after the start of administration, in mean frequency of voiding at night from 4.2 +/- 1.7 times to 2.1 +/- 1.1 times and in mean incidence of urinary incontinence from 2.9 +/- 2.1 times to 0.7 +/- 1.0 times. The final degree of overall improvement rate was 82.0% (41/50 cases). Adverse effects were observed 26 times in 22 patients, the incidence being 15.6% (22/141 cases). They consisted of digestive symptoms in 9.9% (6 events of dry mouth, 4 of constipation, 2 of abdominal discomfort, 2 of diarrhea and 1 of gastritis), urinary tract symptoms in 3.5% (4 of dysuria and 1 of residual urine), abnormal laboratory findings in 1.4% (increase in glutamic-oxaloacetic transaminase, glutamic-pyruvic transaminase or lactate dehydrogenase levels) and others (1.4%). These results provide further evidence of the safety and efficacy of propiverine hydrochloride (BUP-4 tablets) even when administered for a long-term in the treatment of patients with pollakiuria and urinary incontinence.

[Analysis of stress-strain curves in the rat molar periodontal ligament following administration of beta-aminopropionitrile (BAPN)].

To understand the function of the periodontal ligament as a tooth support, stress-strain curves obtained from the transverse section of the mesial root of the rat mandibular first molar were analyzed following administration of BAPN, known as an inhibitor of collagen cross-linking. An experimental group of rats took drinking water containing 0.2% of BAPN ad libitum for 20 days. Radiographs of the transverse section of the molar root were processed by an image analyzer. Mechanical testing was performed by pushing the tooth out of the surrounding alveolar bone at a loading speed of 7 mm/min in an extrusive direction. Doses of BAPN ranged from 19 to 29 mg/100 g bw/day during the experimental period. By the analysis of stress-strain curves, it was found that the maximum shear stress, the elastic stiffness and the failure strain energy density decreased respectively to 42, 43 and 43 percent of the control values following administration of BAPN. However BAPN did not cause a significant change in the maximum strain. It is supposed that the changes in the mechanical properties of the ligament were caused by the inhibition of cross-linking of periodontal collagen fibers.

A fragile X female with Down syndrome.

Clinical and cytogenetic aspects of a female infant with trisomy 21 and the fragile X [fra(X)] chromosome are reported. Most of the facial characteristics of the patient are those observed in Down syndrome, but some features such as long face with prominent forehead and lower jaw, and large ears are related to the fra(X) syndrome. The origin of an additional chromosome 21 may be ascribed to maternal first meiotic nondisjunction in our case. It has been suspected that female carriers of the fra(X) chromosome may be predisposed to meiotic nondisjunctional events. However, there is probably no relationship between the two chromosomal abnormalities in our case because of the maternal age at the delivery.

Familial retinoblastoma (mother and son) with 13q14 deletion.

We present here the first familial cases (a mother and son) of dominantly inherited retinoblastoma with a 13q14 deletion [46,XY or XX, del(13)(q14.1q21.2)]. Their esterase D activities in red blood cells were as low as 50% of the normal control and the haplotype of esterase D was a type 1-0 in the mother and a type 2-0 in the son. They had peculiar facies characterized by a high forehead, low and broad nasal root, a short and bulbous nose, a long philtrum, and open mouth with a thin upper lip, and prominent earlobes. Chromosome and esterase D analysis should be performed in patients with retinoblastoma even if retinoblastoma seems to be transmitted through an autosomal dominant inheritance. This family indicates that one of the causes of dominantly inherited retinoblastoma is a chromosome deletion of part of the 13q14 band whether it is detectable by chromosome analysis or not.

Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2).

We undertook clinical evaluation (32 cases) and molecular evaluation (31 cases) of unrelated patients affected with Smith-Magenis syndrome (SMS) associated with an interstitial deletion of band p11.2 of chromosome 17. Patients were evaluated both clinically and electrophysiologically for peripheral neuropathy, since markers showing close linkage to one form of Charcot-Marie-Tooth disease (CMT1A) map to this chromosomal region. The common clinical findings were broad flat midface with brachycephaly, broad nasal bridge, brachydactyly, speech delay, and hoarse, deep voice. Fifty-five percent of the patients showed clinical signs (e.g., decreased or absent deep tendon reflexes, pes planus or pes cavus, decreased sensitivity to pain, and decreased leg muscle mass) suggestive of peripheral neuropathy. However, unlike patients with CMT1A, these patients demonstrated normal nerve conduction velocities. Self-destructive behaviors, primarily onychotillomania and polyembolokoilamania, were observed in 67% of the patients, and significant symptoms of sleep disturbance were observed in 62%. The absence of REM sleep was demonstrated by polysomnography in two patients. Southern analysis indicated that most patients were deleted for five 17p11.2 markers--FG1 (D17S446), 1516 (D17S258), pYNM67-R5 (D17S29), pA10-41 (D17S71), and pS6.1-HB2 (D17S445)--thus defining a region which appears to be critical to SMS. The deletion was determined to be of paternal origin in nine patients and of maternal origin in six patients. The apparent random parental origin of deletion documented in 15 patients suggests that genomic imprinting does not play a role in the expression of the SMS clinical phenotype. Our findings suggest that SMS is likely a contiguous-gene deletion syndrome which comprises characteristic clinical features, developmental delay, clinical signs of peripheral neuropathy, abnormal sleep function, and specific behavioral anomalies.