Sorsby fundus dystrophy without a mutation in the TIMP-3 gene.

AIMS: To examine a large family with an autosomal dominant fundus dystrophy and to investigate whether or not mutations in TIMP-3 gene were involved. METHODS: A large family of 58 individuals with an autosomal dominant fundus dystrophy was examined ophthalmologically. A DNA linkage analysis in the 22q12.1-q13.2 region was performed. The TIMP-3 gene was screened for mutations in all five exons. RESULTS: In this large family 15 individuals were affected. All other individuals were found to be clinically unaffected. Pisciform flecks in the midperiphery and drusen-like deposits were the most typical ophthalmological finding in this family and were encountered from the fifth decade on. Chorioretinal atrophy and neovascularisation with disciform lesions characterised the disease from the sixth decade on. Linkage analysis using an affected only analysis, showed a maximum positive lod score of 3.94 at theta = 0.0 with marker D22S283. No mutations possibly causing Sorsby fundus dystrophy were found in either the exonic sequences, the promotor region, or the 3'UTR. CONCLUSION: The family in this pedigree has an autosomal dominant fundus dystrophy, which is most probably Sorsby fundus dystrophy. Although, in the linkage analysis, significant positive lod scores were found with the region 22q12.1-q13.2, no causative mutations could be identified in the TIMP-3 gene.

[Aponeurotic suspension of the bladder cervix: how much tension should be put on the sling and how should this be measured (author's transl)]. / Suspension aponévrotique du col vésical: quelle tension donner à la fronde et comment la mesurer

In the sling operation for stress incontinence, it is difficult to have an appropriate tension on the sling. The authors describe the use of a modified Spring-gauge to measure this tension: this should be of 170 grammes.

[Vesico-intestinal fistulas]. / Vesico-intestinale fistels.

A review is given on frequency, etiology, anatomopathology and physiopathology of vesico-intestinal fistulas. Symptomatology and diagnosis with stress on adjuvant technical investigations are studied. In conclusion the principles for a surgical treatment are discussed.

Congenital intranasal cyst in dacryocystocele.

The authors present a case of a newborn with bilateral dacryocystocele in whom repeated probing was unsuccessful. An associated intranasal cyst was diagnosed. Using fiberoptic nasal endoscopy, treatment consisted of probing, irrigation and marsupialization of the cyst. This rarely reported anomaly is a more common finding in dacryocystocele than previously recognized. Careful nasal examination in all infants with congenital dacryocystocele is recommended.

In vitro activity of secnidazole against Atopobium vaginae, an anaerobic pathogen involved in bacterial vaginosis.

Bacterial vaginosis is a polymicrobial syndrome. The most important marker for bacterial vaginosis is the presence of Gardnerella vaginalis and Atopobium vaginae. In this study, the in vitro susceptibilities to metronidazole and secnidazole of 16 strains of A. vaginae were tested with the agar dilution method. We observed an MIC range for metronidazole of 4-64 mg/L (MIC(50), 8 mg/L; MIC(90), 32 mg/L) and an MIC range for secnidazole of 4-128 mg/L (MIC(50), 16 mg/L; MIC(90), 64 mg/L). According to these findings, we can conclude that the activity of secnidazole is similar to that of metronidazole.

[Enlargement cystoplasty using ileum following an AMS 800 sphincter]. / Cystoplastie d'agrandissement en iléon après sphincter AMS 800.

The implantation of an artificial urinary sphincter can induce modifications of the bladder behaviour: hypertonicity and loss of compliance. The result is either a reappearence of incontinence or a degradation of the renal function. The authors report two cases requiring an enlargement cystoplasty using detubulated small bowel.

[Rare testicular tumors]. / Tumeurs testiculaires rares.

We report one case of "sex-cord stromal tumor" composed by Leydig and Sertoli cells. An epidermoid cyst of the testicle will be described. Finally, a case of scrotal leiomyoma is reported.

[Tethered cord syndrome with urinary troubles in adults. Should it be operated?]. / Syndrome de la corde étirée avec troubles urinaires chez l'adulte. Faut-il opérer?

Tethered cord syndrome in an adult male: recent urinary symptomatology associated with orthopedic troubles. Discussion of the surgical procedure.

Indocyanine green angiography in Sorsby's fundus dystrophy.

PURPOSE: To report the indocyanine green angiographic findings in patients with a fundus dystrophy characterized by subretinal deposits, macular atrophic or neovascular degeneration and peripheral chorioretinal atrophy which is most likely Sorsby's fundus dystrophy. METHODS: A series of 11 clinically affected patients and 4 asymptomatic carriers, belonging to one autosomal dominant pedigree were examined with stereoscopic funduscopy, fluorescein and indocyanine green angiography. RESULTS: Subretinal deposits were found in 20 eyes of 10 patients. These deposits stained slightly on indocyanine green angiography, causing a reticular pattern. Two eyes had a disciform lesion and 3 geographic atrophy in the macula. A peripheral disciform lesion was found in 1 eye. Indocyanine green angiography identified peripapillary choroidal neovascularization in 2 eyes. Peripheral chorioretinal atrophy was found in 8 eyes of 4 patients, associated with peripheral plaques that could only be identified by indocyanine green angiography in 6 eyes of 3 patients. CONCLUSION: Indocyanine green angiography in Sorsby's fundus dystrophy may indicate the presence of homogeneously staining, well-demarcated peripheral areas of hyperfluorescence associated with chorioretinal atrophy. These plaques correspond in our opinion to choroidal neovascularization which is otherwise unsuspected.

Influences of dihydrotestosterone, testosterone, estradiol, progesterone, or prolactin on the cell kinetics of human hyperplastic prostatic tissue in organ culture.

In an effort to characterize the hormone sensitivity of human benign prostatic hyperplasia (BPH) maintained in organ cultures for 12-72 h, the influence of 5-alpha-dihydrotestosterone (DHT), testosterone (T), 17-beta-estradiol (E2), progesterone (Pg), or prolactin (PRL) was assessed on the cell proliferation rate of 25 BPH specimens by the use of tritiated thymidine incorporation followed by autoradiography. Significant increases in the thymidine-labeling index (TLI: percentage of labeled nuclei) were observed in glandular tissue after a 36-h incubation period in presence of DHT, E2, Pg, or PRL in 52%, 44%, 28%, and 60% of BPH cases, respectively. Nonparametric statistics (Spearman and Kendall rank correlation tests) have shown that 1) the steroid-induced TLI increases are dependent on the basal rate of cell proliferation, while the PRL-induced effect is independent of it, and 2) all the steroid-mediated effects on BPH TLI are correlated together, whereas they seem to be independent of the PRL-induced TLI increase. When T was compared with DHT on nine BPH specimens, three were found to be sensitive to both hormones, and two responded to DHT only. We propose that our study methods are suitable as a means to assess the hormone sensitivity of individual cases of BPH and possibly prostatic tumors.