PubMed Health⌕ Search

Biomedical subjects

R Saura

Publications and source records attributed to R Saura.

At least 37 records · Page 2Linked to original sources
PubMed1999

[The long-term result of implant arthroplasty for hallux valgus deformity in rheumatoid arthritis].

We have reviewed the results of reconstruction of the forefoot in rheumatoid patients with arthroplasty using a Swanson flexible hinge toe implant for the great toe and with resection arthroplasty for the lateral four toes. The follow-up averaged 8 years (range, 5-11 years). All patients were female and an average age was 52 (range, 31-72 years). Preoperative and postoperative hallux valgus angle (HVA), the angles between the axes of the first and second metatarsal shafts (M1-M2) and the first and fifth metatarsal shafts (M1-M5) were measured radiographically. Breakage of the implant and radiolucencies around the implant on X-ray were evaluated. Preoperative average HVA, M1-M2 and M1-M5 were 31, 10, and 30 respectively. Postoperative average HVA, M1-M2, and M1-M5 were 17, 10, and 28 respectively. Breakage of the implant was present in 77% of the feet and the radiolucencies around the implant was present in 63% of the feet. Although only one foot was performed revision surgery for severe pain and breakage of the implant, more than 95% of the feet obtained pain relief. We found that this type of operation was very effective in relieving pain in rheumatoid patients.

Adult↗
PubMed1998

Submicroscopic deletion of chromosome 16p13.3 in patients with Rubinstein-Taybi syndrome.

The Rubinstein-Taybi syndrome (RTS) is a well-defined entity characterized by growth and mental retardation, broad thumbs and halluces, and typical face. The RTS locus was assigned to 16p13.3, and interstitial submicroscopic deletions of this region (RT1 cosmid, D16S237) were initially identified in 25% of RTS patients. The gene for the human CREB binding protein, the transcriptional coactivator CBP, is included in the RT1 cosmid, and mutations in CBP have recently been identified in nondeleted RTS patients. We investigated 30 French patients with RTS. Among these patients, 3 had the RT1 microdeletion (frequency 10%). There is no obvious phenotypic difference between the patients with and without the RT1 deletion. The RT1 probe appears useful for confirmation of the diagnosis but is of little interest as a screening tool. By pooling data including the previous series and our current series, the cumulative frequency of the 16p13.3 microdeletion is 11.9% (19 in 159). This frequency of approximately 12% deleted patients appears more accurate than the 25% previously reported. Molecular investigations of CBP are in process in our series to clarify the cause of RTS.

CREB-Binding Protein↗
PubMed1998

Refined localisation of the voltage-gated chloride channel, CLCN3, to 4q33.

Mutations in ion channels have been shown to be responsible for a variety of neurological and muscular diseases. The voltage-gated chloride channel CLCN3 was recently mapped to chromosomal region 4q32. We are analysing a young female patient with Wolf-Hirschhorn syndrome and chorea associated with an inversion-deletion of chromosome 4 [46XX,inv(4)del(4)(qter-->q33::p15.32-->q33]. Considering that chorea in this patient might be due to the disruption of a gene at either of the 4p15.32 or 4q33 breakpoints, CLCN3 was considered as a candidate gene. We showed by FISH analysis with a CLCN3 YAC that the gene was not broken by the inv-del event, and was therefore an unlikely candidate. Using high resolution techniques, we refined the localisation of CLCN3 to 4q33.

Chloride Channels↗
PubMed1998

Oesophageal atresia, VACTERL association: Fanconi's anaemia related spectrum of anomalies.

Oesophageal atresia usually occurs without any genetic background. Three cases associated with Fanconi's anaemia are reported. One neonate had growth retardation and numerous malformations including oesophageal atresia and four other components of the VACTERL association. In the two others, oesophageal atresia was isolated. In patients with such malformations an early diagnosis of Fanconi's anaemia may have important genetic and therapeutic implications.

Esophageal Atresia↗
PubMed1998

Establishment of a non-union model using muscle interposition without osteotomy in rats.

Many attempts have described a standard experimental model for fracture non-union in laboratory conditions, but the majority of them produced after an experimental osteotomy, so it is different from clinical disturbed fracture healing. The purpose of this study is to establish a standard method for producing fracture non-union with only muscle interposed into the fracture site in rats. Bilateral tibial fractures were made in forty-eight male Wister rats by three point bending and we surgically interposed the distal end of the tibialis anterior muscle into the fracture site. They were sacrificed at 1, 2, 3, 6, 12, 24, 48, and 96 weeks after fracture. The rentgenograms were obtained, and the fractured tibias were harvested in each time period and investigated histologically and immunohistochemically. The rentgenogram at six weeks, in the non-union rats, showed abundant callus at each end of the fracture fragments, but no bridging callus. The histological finding with hematoxylin and eosin, at this point, shows no bridging soft callus, and small isolated regions of cartilage were observed only where the bone was not covered by the muscle. The proliferating cell nuclear antibody immunostaining which is associated with cell proliferation was abruptly lost in chondrocytes at two weeks. This early disappearance of chondrocytes without endochondral ossification may be a significant etiological factor in the development of a non-union. This non-union model is technically simple and reproducible, and dose not require periosteal stripping or surgical osteotomy to produce an artificial bone gap.

Animals↗
PubMed1998

[Tendon rupture of the extensor pollicis longus tendon in rheumatoid arthritis].

Seven patients with subcutaneus of the extensor pollicis longus tendon (EPL) in rheumatoid arthritis were studied. There were one man and six women. The mean age of the patients was 56. 9 years, with a range of 47 to 83 years. The duration of the disease was from 0.2 to 6 years, its average 3 years. An interval between rupture of the tendon and operation was 9 days to 18 months. Tendon transfers of the extensor indicis proprius tendons were performed in 3 cases, sutures in 2 cases and free tendon graft of the palmaris longus in one case. All cases showed very active tenosynovitis around the EPLs, which were ruptured near Lister's tubercle. The histopathological findings of the ruptured EPL revealed that synovial proliferative tissue with chronic inflammatory cells infiltration were invading into the tenion tissue directly. The synovial granulatins might weaken the tendon and repetitive mechanical stress on the tendon at Lister's tubercle could result in the rupture of EPLs.

Aged↗
PubMed1997

18p monosomy with midline defects and a de novo satellite identified by FISH.

We report a girl with an 18p deletion and showing a total GH deficiency, a single central maxillary incisor, and a pituitary dysplasia. This suggests that del(18)(p) could be involved in pituitary dysplasia. We review the association between midline developmental defects and chromosome 18 anomalies. This case is due to a de novo satellite resulting from an unbalanced translocation t(18p;13p) identified by FISH. This is the first case of this cytogenetic mechanism in the 18p monosomy.

Child, Preschool↗
PubMed1997

A mechanism of cisplatin action: antineoplastic effect through inhibition of neovascularization.

Though cisplatin (cis-diamminedichloroplatinum; CDDP) has been widely used for the treatment of malignant tumors, the mechanism of its action has not been well understood. Neovascularization, which accompanies tumor growth and metastasis, is required for cell proliferation in order to supply both oxygen and nutrients. We have studied in this investigation the effect of CDDP on endothelial cell (EC) proliferation in vitro and on rabbit corneal neovascularization in vivo. DNA synthesis of human umbilical EC was inhibited by CDDP in a dose-dependent fashion. Significant inhibition was observed at concentration over 10(-8) M, which is attainable in the serum of treated patients. Rabbit corneal neovascularization in vivo was also suppressed by intravenous injection of 0.5 mg/kg of CDDP for 10 days. These results suggest that CDDP might have an indirect anti-neoplastic effect through the suppression of neovascularization required for the tumor growth.

Animals↗
PubMed1995

Prenatal diagnosis of trisomy 9. Six cases and a review of the literature.

Six prenatally diagnosed cases of trisomy 9 are reported and 22 previously reported cases are reviewed; the difficulty of genetic counselling for such cases and the variation in the percentage of trisomic cells in different tissues, thus making accurate diagnosis of trisomy 9 difficult, are emphasized. In addition to karyotyping results, ultrasound findings are important in achieving diagnoses. Finally, a course of action when prenatal trisomy 9 is detected is proposed.

Adult↗
PubMed1995

[Prenatal diagnosis of nuchal edemas and cystic hygromas of the neck. 49 cases].

OBJECTIVES: Determine the pathogenesis of fetal nuchal oedema and cystic hygromas of the neck and establish prenatal prognosis factors. METHODS: Retrospective study of 49 cases including 35 early diagnoses (10 to 14 weeks gestation) and 14 late diagnosis (after 15 weeks). Chorial villosity biopsy was performed for fetal karyotype. RESULTS: The global rate of genetic or chromosomic abnormalities in the fetuses was 47%. The fetuses with nuchal associated with other echographic anomalies had a high risk of chromosomic aberrations (80%). Fetuses with nuchal oedema alone during the first trimester had a higher risk of trisomy 21 proportionally with the age of the mother and paradoxically no trisomy 21 was found in women under 30 years of age. When early nuchal oedema regressed spontaneously in an euploid fetus, echographic surveillance can be proposed to detect possible polymalformation syndromes discovered late. Cystic hygromas of the neck were diagnosed from 15 weeks gestation and were always pathologic. CONCLUSION: Interpreting nuchal images in the fetus must take into account the echographic term at discovery and its isolated or associated nature. Further studies are needed to determine indications for chorial villosity biopsy in mothers under 30 with a fetus with isolated nuchal oedema which regresses spontaneously during the first trimester.

Chromosome Aberrations↗
PubMed1995

[Prenatal diagnosis of a hydrothorax secondary to an extralobar pulmonary sequestration].

A case of antenatal hydrothorax was observed. The aetiology could not be determined before birth. At birth an extra-lobe lung sequestation was treated surgically after 3 weeks in the intensive care unit. The surgical cure was successful with no sequellae. This favourable outcome is unusual in this type of pathology and can be explained by the fact that the sequestration was isolated in a fetus with only minimal anasarca. Indications for prenatal pleural drainage are discussed.

Adult↗