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Biomedical subjects

P Rigault

Publications and source records attributed to P Rigault.

At least 19 recordsLinked to original sources

Continuum of overlapping clones spanning the entire human chromosome 21q.

A continuous array of overlapping clones covering the entire human chromosome 21q was constructed from human yeast artificial chromosome libraries using sequence-tagged sites as landmarks specifically detected by polymerase chain reaction. The yeast artificial chromosome contiguous unit starts with pericentromeric and ends with subtelomeric loci of 21q. The resulting order of sequence-tagged sites is consistent with other physical and genetic mapping data. This set of overlapping clones will promote our knowledge of the structure of this chromosome and the function of its genes.

Chromosome Mapping

Isolation of chromosome 21-specific yeast artificial chromosomes from a total human genome library.

A new approach for the isolation of chromosome-specific subsets from a human genomic yeast artificial chromosome (YAC) library is described. It is based on the hybridization with an Alu polymerase chain reaction (PCR) probe. We screened a 1.5 genome equivalent YAC library of megabase insert size with Alu PCR products amplified from hybrid cell lines containing human chromosome 21, and identified a subset of 63 clones representative of this chromosome. The majority of clones were assigned to chromosome 21 by the presence of specific STSs and in situ hybridization. Twenty-nine of 36 STSs that we tested were detected in the subset, and a contig spanning 20 centimorgans in the genetic map and containing 8 STSs in 4 YACs was identified. The proposed approach can greatly speed efforts to construct physical maps of the human genome.

Base Sequence

[Instability and misdiagnosed or neglected dislocations of the upper cervical spine in children. Apropos of 20 cases].

Neglected instabilities or luxations of the upper cervical spine in children are rare if one discards conditions such as chondrodysplasia, Down Syndrome or others, were the spine is known to be at high risk of instability. We have studied twenty cases of neglected luxations and the delay in diagnosis is explained either by the asymptomatic character of some of these lesions, or by the difficulty in diagnosis. At the occipito-atlantal level we have reviewed: an instability in translation which required an occipito-axial fusion; two compensatory counter occipito-atlantal luxation of an atlanto-axial rotatory fixation. The diagnosis was best made with computed tomography scan and the treatment was not much different from the isolated atlanto-axial rotatory luxation. An instability in flexion extension, which was merely followed at regular intervals. At the atlanto-axial level 9 cases of sagittal instabilities in kyphosis and translation with a distance between atlas and axis of more than 5 mm were observed. These instabilities were most often associated with a malformation of the cranio-cervical junction; their treatment was usually surgical by means of an atlanto-axial or occipito-axial arthrodesis depending on the case. 9 other cases of atlanto-axial rotatory luxations were either isolated (7 cases) or associated with a counter occipito-atlantal rotatory subluxation (2 cases). Their diagnosis was made on routine X-rays, but the complete or incomplete aspect of the luxation, as well as its fixed aspect, was best appreciated with dynamic CT scan. Their treatment was always started with collar neck or halo traction in order to obtain, reduction of the dislocation, or at least the disparition of the torticollis and the head straight up on shoulders. The stability of the spine was achieved with a minerva cast jacket, halo cast or spine fusion depending on the case.

Adolescent

[Caput valgum in children. Natural history and treatment of a series of 17 hips that reached skeletal maturation].

The growth disturbance of the superior end of the femur which is related to a superior lateral epiphysiodesis of the femoral neck is known as caput valgum (C.V.). Most often, it appears after the treatment of a congenital dislocation of the hip (C.D.H.) which can also produce many other growth disorders of the hip. Fifteen children (seventeen hips) presenting similar evolution and morphological abnormalities have been reviewed. We performed nine surgical procedures most of the time for painful hips because of excentration of the femoral head. When the bone maturity was acquired all hips except two (sequelae of infections) were asymptomatic with femoral heads well covered. When discovered or suspected, this disease needs of careful follow-up. When operative treatment is necessary, we think that it has to be a pelvic surgery. We performed 4 times a triple pelvic osteotomy; 3 times a Chiari osteotomy; and twice a hip shelf arthroplasty. Those operative treatments have always been done with good results in our review.

Adolescent

[Atlanto-axial instability in children with trisomy 21: atlanto-axial (C1-C2) or occipito-axial (O-C2) arthrodesis?].

A retrospective study involving seven cases of operated atlantoaxial (C1-C2) instability in patients with Down Syndrome prompted the authors to raise the following question: which kind of arthrodesis is to be performed for these patients? The possibility of an occipito-atlantal (O-C1) instability, is in fact relatively frequent in this condition, as the authors have observed themselves and in a literature survey; this is an argument for performing an occipito-axial (O-C2) arthrodesis. The difficulties met to reduce the C1-C2 luxation, the frequent pseudarthroses (3 cases in our series) and a tetraplegia following a re-operation for non-union are as many other arguments to perform a O-C2 arthrodesis rather than a C1-C2 arthrodesis.

Adolescent

[Long-term outcome of pectus excavatum surgically treated in children].

The authors have studied the result of 34 pectus excavatum, corrected by two surgical methods, followed up between 3 and 20 years: half of cases were treated by Judet's procedure, making turn over of anterior wall chest, with 35 per cent of good result. The other cases were treated by sternochondroplasty and internal fixation, with 88 per cent of good result. Early failures related to sternal non union and to infection, occurred in 53 per cent of Judet's procedure; eight of the 13 failures were managed by sternochondroplasty (7 cases) and Judet's procedure (1 case); followed by good results. Failure at further time was related to the young age of the patients at treatment, to the deficiency of fixation and early removal of material. Consequently, durable correction at long term was obtained, when treatment was performed by sternochondroplasty procedure, over 14 years of age, when many pins were used for fixing the correction, left in place for more than one year. In such cases, we didn't observe regression of result. When small residual deformities subsisted they were often masked by the development of the muscles in man, and breast in woman, providing acceptable aspect of chest.

Adolescent

[Scoliosis and congenital heart diseases in children. Apropos of 44 cases].

In order to evaluate the difficulties of treatment of associated scoliosis and congenital heart disease (C.H.D.), 44 patients who have been treated between 1970 and 1988 were reviewed. The scoliosis was idiopathic in 30 cases, congenital in 11, neurologic in 3. There were 27 females and 17 males. Twenty one patients had a cyanotic C.H.D. (twelve tetralogies of Fallot). No relation was found between the side of the cardiac approach and the side of the thoracic curves. Three cases of right aortic arch with two left thoracic scolioses were noted. Associated anomalies were encountered in 60 p. 100 of cases. The analysis of old chest X-rays, revealed that the scoliosis was already present an average of 5 years before the first orthopaedic consultation. Eight patients had an orthopaedic treatment; in ten cases surgery was decided but not performed. Twenty six patients were operated. (22 posterior and six anterior procedures). The average angulation was 55 degrees pre-operatively, 30 degrees post-operatively and 40 degrees at a 40 months follow-up. In five cases a pseudarthrosis led to re-intervention. One patient died during a posterior procedure, an other post-operatively. Two patients had a severe complication (one heart arrest; one gaz-embolism) but recovered. The surgical prognosis can be evaluated on an original scale including different cardiac parameters, and the importance of the planned surgical procedure. Under a limited mark, no serious complications occurred. In conclusion, a closed collaboration between pediatricians and the orthopaedic team, should lead to more precocious screening of scoliosis in cardiologic children and before the orthopaedic procedure, to a more precise risk factors evaluation.

Child

[The Z-shaped or serpentine foot in children and adolescents].

Serpentine foot or Z-shaped foot, definite as varus of forefoot with valgus of heel, is a deformity which is advisable to separate from metatarsus varus in children. We have studied 55 serpentine feet of 31 children aged between 6 months and 13 1/2 years, observed in 20 years. We distinguished four grades of deformities. Treatment was orthopedic in 15 times, surgical in 29, with 50% of bad result, 11 feet which haven't had any treatment were in use to indicate evolution of the adductus. However, valgus of heel is transitory and secondary to forefoot rigidity, it always regressed but growth disturbance of tarsal bone occurred making lateral deviation. We insist on early radiographic diagnosis and treatment which is orthopaedic before first year of age, then surgical when first failed or in old children. It get release of metatarsal stiffness before 6 years of age, then in older we make osteotomy of 1 degree cuneiform and cuboid to correct bone deformity. Correction of hind foot valgus, realized in 24% of the surgical treatment, must be prohibited, it always made transverse tarsal instability.

Adolescent

[Injuries of the upper end of the tibia in children. With the exclusion of fractures of the tibial shaft].

We review 58 cases of proximal tibial fractures in children. Their evolution and prognostic depend on the localisation. The intra epiphyseal fractures have a good prognostic if care is taken in reduction of the great deplacement fractures: as well as the epiphyseal plate fractures. The upper anterior tibial apophysis fractures have been reduced and screwed without any genu recurvatum sequellae. Severe growth disorder may follow proximal tibial contusions without parallelism regarding to them. Among the iatrogenic causes of these contusions, the trans-tibial pine traction may induce a genu recurvatum even far from the tibial tubercle: so we must avoid this method. The proximal metaphyseal tibial fractures and the valgus deformity following them represents a high difficult treatment. This deformity often recurs after osteotomy (with the risks of the operation). Anyway the tibia valga disappears spontaneously. Its evolution shows that it has a double origin: the fracture displacement then the medial overgrowth epiphyseal plate. The first cause can be treatment actually in order to limit the final valgus by closed reduction with anesthesia.

Adolescent

[The fate of children undergoing bone lengthening in congenital hypoplasia of the legs].

This retrospective study was conducted on 26 patients, 14 women and 12 men whose average inequality prognosis was 8.5 cm. They have been reviewed after they were more than 20 years old (mean 23.8 y). Between 1962 and 1979 these 26 patients have had 38 lengthening procedures with various methods. The results were evaluated after clinical examination and X-rays. The average radiological discrepancy was 1.5 cm at the follow-up. On the X-rays, the deterioration was rare for the hip point, more frequent for the knee and very frequent for the ankle and the foot. If the socio-professional integration was satisfactory, many problems remained unsolved at the review. The matter was the aspect of the lengthened limb considered as unesthetic and ugly by 22 patients. 20 of the 26 patients had problems to put on shoes. On the other hand two patients out of three had a relative intolerance to effort, cutaneous troubles probably in conjunction with vascular and trophic insufficiency with many concern for the future.

Bone Diseases, Developmental

[The so-called Klippel-Feil syndrome and its orthopedic incidences].

Eighteen cases presenting Klippel-Feil syndrome were reviewed. Clinical and radiological criteria were analyzed: short neck, severe restriction of motion, and low posterior hairline which make up the classical clinical triad. Radiological abnormalities of the cervical spine included: a reduction in the number of cervical vertebrae, fused vertebral blocks (16 cases), cervical spine-bifida occulta, spinal dysraphism (12 cases). Other cervical vertebral disorders have been added which complete the original description: cervico-thoracic abnormalities (12 cases), craniocervical junction abnormalities (7 cases) and also thoraco lumbar abnormalities (5 cases). Although this syndrome is essentially descriptive, orthopaedic complications may occur: scoliosis (9 cases) of which only two had an increasing deformity and required posterior spine stabilisation; cervico-occipital instabilities (2 cases) which although rare, should be sought out with care because they can have serious consequences; Sprengel's deformities (7 cases) which did not warrant operative intervention. The Klippel-Feil syndrome, Wilderwanck syndrome, and Goldenhar syndrome are all close descriptive entities, and have limited surgical consequences.

Atlanto-Occipital Joint

[Multiple pterygium syndrome in children. 7 cases].

Seven children have been observed and treated for a multiple pterygia syndrome. The characteristics of this affection which is rare and mostly transmitted as an autosomal recessive, are: a growth retardation, a facial dysmorphia, pterygia resulting in flexion deformities, and anomalies of hands, feet and external genitale. But the severity of the syndrome is linked with the spine malformation, whose fusions produce severe and precocious deformities. This syndrome must be differentiated from the popliteal pterygium syndrome, whose repercussions are only functional; from the arthrogryposis multiplex congenita, whose syndrome is already complete at birth; and from the false secondary pterygia (caudal spinal agenesis, campomelic syndrome, quadriceps hypoplasia). The multiple pterygia syndrome imposes a genetic investigation and a serious observation of the spine and of the evolutive flexion deformities.

Abnormalities, Multiple

[Scoliosis, spondylolysis and lumbosacral spondylolisthesis. A study of their association apropos of 82 cases in children and adolescents].

The authors have reviewed the charts of 82 patients who presented the association of a scoliosis and a spondylolisthesis. They insist upon the necessity to treat each abnormality for itself. 26 patients have been simply followed in the clinic, they required no treatment because of the modicity of the scoliosis and the spondylolisthesis. 23 patients were treated with orthosis because of the scoliosis progression. In this group the spondylolisthesis was not a major concern and remained stable. 15 patients had to be operated on because their scoliosis was threatening. The existence of a spondylolisthesis must not be a deterrent to the arthrodesis, and the orthotic treatment must not be carried on if inadequate. The risks to observe, below the spine fusion a progression of the slippage are extremely low (no case in our series). Although we tried to obtain a fusion of the lysis with an isthmic arthrodesis in two cases, we do not think that it represents a prerequisite to a spine fusion above the level of the lysis. 13 patients had a lumbosacral fusion for a great slippage spondylolisthesis. In this group the scoliosis had no relationship with the spondylolisthesis in four patients. But, in nine patients the scoliosis appeared to be directly related to the spondylolisthesis. The "Arthrodesis-reduction" of the spondylolisthesis enabled us to correct, at least partially, the scoliosis. At last 3 patients had a great slippage spondylolisthesis, and a threatening scoliosis. For these rare cases we propose the lumbosacral fusion with reduction of the spondylolisthesis and then, a few months later, an arthrodesis of the scoliosis as we have carried out twice successfully.

Adolescent

[Large-displacement spondylolisthesis in children and adolescents. Results of reduction-arthrodesis with front plates].

Twenty seven children and adolescents with severe lombo-sacral spondylolisthesis (degre III and IV) were operated using an original procedure of reduction and fixation. It is a two stages procedure, in the same session. Through a posterior approach, the sciatic roots are released and two long screws are set through the sacrum. An anterior approach allows a progressive reduction using a bended plate fixed with the protruded long screws, and an anterior arthrodesis. Results were evaluated with a three years mean follow-up. Clinical results were excellent on pain and on the morphological aspect of the trunk. There were four cases of residual weakness in the L5 motor distribution. This complication can be avoided by a good preparation before the procedure and precise post-operative care. The anterior displacement was improved from 77 per cent to 11 per cent. The angular lombosacral kyphosis from -23 degrees (kyphosis) to + 11 degrees (lordosis). The initial fears in the early experience, about the risks of kyphosis or slipping of the L4-L5 level have not been proved.

Adolescent

[Ganglioneuroma and scoliosis. Report of 3 cases].

This paper is the report of three cases of spinal deformities connected to a paravertebral ganglioneuroma: The first case was discovered during the anterior approach of a thoracic scoliosis of more than 100 degrees at the age of twelve; the child had been treated before the age of one year for a thoracic neuroblastoma; eleven years after removal of the ganglioneuroma and fusion of the spinal curve, the evolution is satisfactory. The second case was similar, but the initial findings during infancy were not well known; the result is good two years after excision of the tumor and fusion of the spine. The third case is simply a progressive kyphosis after removal of a thoracic ganglioneuroma by laminectomy at the age of five years. The sister of this child suffered of a malignant thoracic neuroblastoma. Are pointed out here below the nature of these ganglioneuromas, non-secreting tumors from neuroectodermic origin, their rarity in relation with spinal deformities, the difficulties of their detection by modern imaging, and the requirement of a close survey of these patients and their family.

Child

[Pavlik's harness in congenital hip dislocation before the first birthday].

Three hundred cases of congenital dislocation of the hip have been treated with the Pavlik harness since 1979. The reduction is obtained by progressive flexion of the thighs. The femoral head penetrates the acetabulum from bottom to top. Placing the harness and managing the treatment must be very carefully done. The explanation given to the family is essential to success. Complications are rare. Arthrography followed by reduction in traction should be considered in case of failure. The Pavlik harness is indicated under the age of 9 months.

Braces

[Are there still indications for femoral osteotomy?].

Derotation osteotomy is indicated after reduction and stabilization of a dislocation, if there is still an augmented anteversion with a risk of reluxation: osteotomy is also indicated for prevention of leg deformities. Varization and derotation-varization osteotomies are occasionally indicated for secondary reconstruction of a more or less normal hip with severe residual dysplasia.

Femur