Biomedical subjects
Publications and source records attributed to P Rigault.
A yeast artificial chromosome library containing 33,000 clones with an average insert size of one megabase of human genomic DNA was extensively analysed by several different procedures for detecting overlaps and positional information. We developed an analysis strategy that resulted, after confirmatory tests, in a YAC contig map reliably covering about 75% of the human genome in 225 contigs having an average size of about ten megabases.
A map of human chromosome 3 which integrates both physical and genetic data has been developed from the fusion of two large collections of markers and corresponding yeast artificial chromosome (YAC) clones. The map contains 972 megabase-sized YACs identified with 593 primary markers, of which 162 are highly polymorphic sequence-tagged sites (STSs) and form a closely spaced genetic linkage map; the remaining markers are hybridization-based. Chromosome 3 is now represented by 24 large YAC contigs whose order and orientation is largely known. The map generated by fusion of these hybridization- and STS-based datasets covers about 80% (over 160 megabases) of the chromosome and will provide the foundation necessary for rapid development of a detailed genetic understanding for this large autosome.
INTRODUCTION: The treatment of children's essential bone cysts, is controversial. Intra focal injection of a corticoid, the Methylprednisolone, described by Scaglietti in 1974, given in most of the case serials, a rate of healing of more than 30 per cent. MATERIAL AND METHODS: The case serial we present include 42 essential bone cysts treated between 1975 and 1992 in the orthopaedic department of Necker Enfants Malades hospital. These children have been reviewed with a mean follow up of 4 years. A healing rate over 35 per cent has been noticed. However, some failures stayed completely an understanding even if nothing at the beginning let suppose a slower evolution. RESULTS: Attempting to explain those phenomenes, the authors realised in 70 per cent cases, an opaque cystography, before the Methylprednisolone injection. This simple radiological technique permitted to reveal abnormal aspect in 75 per cent cases. Most of the time, it shows massive-veinous licks in an abnormal veinous system or one or plurial separations of the cystic area. This type of picture could perfectly explain the defect of the corticoids action by a lick of the solution or by a partial unefficacity of the solution because of the separation in the cyst area. The hypothetic idea has been completed by the calcul of the duration of the evolution. Effectively, the cysts showing an abnormal cystography had a longer healing delay compared to the cyst whose cystography was normal. CONCLUSION: The opaque cystography is for us a necessary element in the treatment of essential bones cysts, once the diagnostic is certain and the indication of intra focal corticoid injection has been retained. The radiographic study of the cyst area permits to precise the treatment; for example multiplying the injections in the areas of the cysts when there is separations and overseing the evolution.
Ataxia with vitamin E deficiency (AVED) is an autosomal recessive disease characterized clinically by neurological symptoms with often striking resemblance to those of Friedreich ataxia. This disorder has been reported previously as familial isolated vitamin E deficiency. We have mapped recently the AVED locus to a 5-cM confidence interval on chromosome 8q by homozygosity mapping in six Mediterranean families. We have now analyzed six new and two previously described families and demonstrate genetic homogeneity despite important clinical variability and wide geographic origins. Analysis of nine new tightly linked microsatellite markers, including four characterized in this study, revealed a predominant but not unique mutation in northern African populations, where this condition is more frequent. Haplotype analysis but also classical recombinations allowed us to refine the AVED position to a 1-cM interval. A YAC contig over this interval was constructed from marker STSs and YAC fingerprint data, in order to facilitate the search of the AVED gene.
We have studied 204 feet in 181 children with congenital limb shortening. There were 17 short femurs in 11 children in whom it was impossible to lengthen the leg. Thirteen feet were abnormal. It was necessary to adapt the foot to fit the chosen prosthesis. In 34 children it was possible to correct the length of the short femur. In 21 the feet were normal. 13 had abnormal feet associated with fibular aplasia and deformities included equinovalgus, hind foot synostosis, and deficient rays. In 72 children with congenital hypoplasia or aplasia of the fibula, 76 feet were affected. The function of the foot depends on attaining a stable position beneath the tibia. In 34 children (35 feet), the feet were in a stable position. There were 22 ball and socket ankle joints. Before carrying out leg lengthening, operation was necessary on 9 feet, and a further 13 required operation after lengthening had been carried out. In 34 children (41 feet) there was fibular aplasia. The feet lay in equinovalgus and were often narrow. Only 5 did not have a degree of synostosis. Twenty-three feet in twenty two children were operated on with early soft tissue release, tendon transfer and tibiotalar arthrodesis. This is our treatment of choice. Twenty-seven children had tibial dysplasia which affected 37 feet. The feet lay in equinovarus and in 5 there was partial diplopodia. In the absence of a tibia (19 feet) disarticulation of the knee was carried out. In 12 there was proximal shortening of the tibia which in 9 cases was treated by tibiofibular union. It was possible to retain only 2 feet in a proper position in a lengthened leg. In 30 children (33 feet) both fibular and tibial hypoplasia was present. The feet functioned well. There were 22 ball and socket ankles, 28 narrow feet and numerous synostoses. In limbs with atypical dysplasia 7 abnormal feet were noted. If it is possible to preserve or lengthen the limb it is vital that the foot is retained in a stable position beneath the tibia in order that satisfactory function be obtained. If limb lengthening is impossible, the foot must be adapted to match the prosthesis.
The purpose of this paper was to evaluate the results after acute septic arthritis of the knee in children and to discuss the method of treatment. 51 cases records of septic arthritis of the knee in children were studied with an average follow-up of 5 years. The etiology was hematogenous in 42 cases, penetrating wounds in 7 cases and osteomyelitis in 2 cases. Treatment was chiefly joint washing by arthrotomy 36 times, arthroscopy 4 times, with a needle 8 times; 3 synovectomies were necessary. Patients underwent systematic joint immobilization and parenteral antibiotics. The results were excellent in 35 cases, good in 10 cases, fair in 6 cases. Prognosis was good for hemategenous arthritis, but much less so for arthritis secondary to penetrating wounds and osteomyelitis. The essential factor for a good result was an early diagnosis and treatment. Apart from 2 arthrodeses, functional results were good. One of the noteworthy facts of our series was the great number of negative cultures (68 per cent). Treatment is discussed according to literature. Joint washing by arthroscopy has the double advantage of being simple and innoculous, and enables synovial biopsy. Immobilization at first seems necessary but its duration can be shortened to encourage articular cartilage nutrition. Antibiotics must be given parenterally at first, to be continued by oral administration as soon as their efficiency is proven. To evaluate this, CRP seems to be an efficient test.
Traumatic hemipelvectomy is rarely observed, mostly because very few patients survive the initial trauma. We describe 2 cases of children who survived this trauma. The first was a 12 year-old boy who accidentally fell between a metro train and the platform. He had a severe open trauma of the pelvis with important hemorrhage. After a first operation to stop hemorrhage and do a cystotomy and a colostomy, ischemia of the lower limb led to an inter-ilio-abdominal amputation. Two months were necessary to heal this. A prosthesis was made 12 months after the accident, postponed by urinary problems. The boy also had a traumatic amputation of the left arm and an upper metaphyseal fracture of the humerus. The second case was that of an 8 year-old girl who suffered a complete traumatic amputation of the hemipelvis after a road accident. A secondary colostomy was performed because of a local infection. Once healing was achieved, the child was low to follow-up. In the literature, we found 36 survivors to this dreadful lesion (4 of them children). We analysed the different problems for the treatment of this trauma caused, and their short term consequences. An early evaluation of the lesions, rapid and intensive resuscitation, early decision to complete the traumatic amputation if necessary, with urinary and digestive derivation, are important elements towards eventual successful outcome of the treatment.
A ten year nine month-old girl was admitted to hospital for a painful inflammatory tumour of the right popliteal area. There was a calcification on X-ray and computerised angiography showed a tumour. MRI showed a heterogenous irregular mass. This looked like a malignant tumour. At surgical biopsy: it was a circonscripta myositis ossificans. This benign tumour of soft tissues, rare in children (25 cases in the literature), had a spontaneous favourable evolution. Differential diagnosis with malignant tumour is well known, but is still difficult. Biopsy is necessary in doubtful cases. We had to remove the mass because of acute pain.
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.
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.
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.
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.
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.
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.
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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.
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.
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.