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J Barbot

Publications and source records attributed to J Barbot.

10 recordsLinked to original sources

Novel promoter and splice junction defects add to the genetic, clinical or geographic heterogeneity of beta-thalassaemia in the Portuguese population.

In order to delineate the spectrum and the relative abundance of beta-globin gene defects causing thalassaemia in the Portuguese population, a representative sample was analysed including 51 beta-thalassaemia carriers along with 26 patients representing different clinical phenotypes. Seven mutations were identified, four of which [codon 39 (C----T), 39%; intervening sequence (IVS) 1 nucleotide (nt) 1 (G----A), 26%; IVS 1 nt 110 (G----A), 17%; IVS 1 nt 6 (T----C), 15%] account for 97% of 93 beta-thalassaemia chromosomes. Two previously undescribed mutations, namely a C----T substitution at position--90 in the proximal CACCC box, and the deletion of nucleotides 4 and 5 (AG) in IVS2 were identified. The uncommon, though ubiquitous, G----T transversion at codon 121 was found once upon haplotype V. Direct prenatal diagnosis can be offered to 95% of couples at risk of bearing a thalassaemic child.

Chromosome Aberrations

[Tubal repermeabilisation after sterilisation. Techniques and results (author's transl)].

Requests for repermeabilisation surgery, previously rare, are becoming more common. The indications for reparative surgery are analysed. Microsurgery is possible when the length of the remaining tube us adequate, more than 5 cm, and the ampulla undamaged. It is made difficult when the initial sterilisation procedure has destroyed too long a segment of the tube: electrocoagulation, resection of a long loop of tube. It is impossible when the ampulla and the adjacent portion of the tube have been damaged. Microsurgical techniques certainly improve the results of reparative surgery. After end-to-end anastomosis of the medial half of the tube, 60 to 75% of pregnancies going to term are obtained, and more than 90% secondary permeability. New methods for surgical sterilisation such as clips or rings should make it possible to achieve even better results in the future.

Animals

[Early control laparoscopy after tubal microsurgery (author's transl)].

It is essential to carry out laparoscopic control to determine the result of plastic tubal surgery. This is classically done 12 to 18 months after the operation, yet it has been suggested that this control should be carried out earlier between the 4th and the 8th weeks or even on the 8th day following the operation. The authors have carried out 63 early control laparoscopies after microsurgical operations on the tube at different dates: 33 times between 4 and 8 weeks after the operation, 5 times between the 10th and the 13th day, and 25 times on the 8th day. They are in favour of early laparoscopic control with the reserve that it will require much more experience to tell whether the procedure is harmless.

Fallopian Tubes

[Experimental study of the permeability of the fallopian tubes in the rabbit after division of the isthmus and microsurgical anastomosis (author's transl)].

The poor results of traditional reconstructive surgery of the Fallopian tubes have led the authors to try the possibilities of microsurgery in tubal sterility. The experimental animal chosen was the rabbit owing to its similarities with the Fallopian tube in women. After division of the isthumus, the tube was repermeabilised with a 10.0 single nylon thread under the operating microscope. A series of 11 rabbits were then coupled one mont after the operation. The pregnancy rate was 55%. This figure was much better than those obtained in the literature by non-microsurgical technics. One may hope to improve the results further by less traumatic surgery, better asepsis, and better control of fertility.

Animals

[Progress in the treatment of tubal sterility: microsurgery (author's transl)].

During the last few years microsurgery has evoked general enthusiasm in several surgical specialities and especially in plastic surgery. This is also true of gynaecology, where it is used for the surgery of sterility. Tubal microsurgery improves the results of operations by ensuring that the anatomical reconstruction shall be more precise and by lessening the amount of adhesions and secondary fibrosis. The first results that have been published prove this. The superiority of these difficult techniques is especially demonstrated by tubal recanalisations effected after sterilisation when the anastomosis is made in healthy tissue, being from the isthmus to the isthmus or from the isthmus to the uterus. Microsurgery is also the sole hope for the surgery of tubes that are at present inoperable. It will effect transplantation of the tube as soon as the problem of rejection has been solved.

Fallopian Tubes

[Vesico-uterine fistulae after Caesarean operation (author's transl)].

The vesico-uterine fistulae represent 4 per cent of all urogenital fistulae. They are rare and are found almost always after Caesarean operation. We have been able to find in the literature 110 vesico-uterine fistulae after Caesarean operation. They very rarely fail to be diagnosed if careful post-operative examination is made and the majority of them are discovered in the year following delivery. Urinary incontinence is the most common reason for consultation. More uncommon is amenorrhoea with menstruation through the bladder. Incontinent women are under constant threat of ascending urinary tract infection. Finally these women, whether they are incontinent or amenorrhoeic, are sterile. Their fertility remains diminished even after surgical cure of the fistula. The only treatment for those who complain of the condition is surgery. It should be undertaken after a careful gynaecological and urological assessment.

Cesarean Section

[Contact embryoscopy (author's transl)].

Prenatal diagnosis based on anatomic definition of the fetus in utero is an difficult task, in the first trimester of pregnancy. The authors have recently introduced a new method : contact embryoscopy which consist in applying the optic piece of a contact hysteroscope (diameter of six millemeters) to the intact and translucent ovular membranes by the cervix. They have performed fifty embryoscopy prior to termination of pregnancy at 8 to 12 weeks. In 41 cases, they have seen the hands of fetus with the fingers. If this technic fails, it is possible, later, to use Echography and fetoscopy. The side-effects are discussed. Contact embryoscopy would be particularly useful in the detection of malformations of the extremities, for instance : chondro-ectodermal dysplasia (Ellis Van Creveld Syndrome) or ectrodactily.

Female