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.

The Genomics of Cannabis and Its Close Relatives.

Cannabis sativa L. is an important yet controversial plant with a long history of recreational, medicinal, industrial, and agricultural use, and together with its sister genus Humulus, it represents a group of plants with a myriad of academic, agricultural, pharmaceutical, industrial, and social interests. We have performed a meta-analysis of pooled published genomics data, andwe present a comprehensive literature review on the evolutionary history of Cannabis and Humulus, including medicinal and industrial applications. We demonstrate that current Cannabis genome assemblies are incomplete, with ∼10% missing, 10-25% unmapped, and 45S and 5S ribosomal DNA clusters as well as centromeres/satellite sequences not represented. These assemblies are also ordered at a low resolution, and their consensus quality clouds the accurate annotation of complete, partial, and pseudogenized gene copies. Considering the importance of genomics in the development of any crop, this analysis underlines the need for a coordinated effort to quantify the genetic and biochemical diversity of this species.

Anterior screw-plate fixation in adolescent idiopathic scoliosis: 15-year outcomes.

BACKGROUND: Few published data are available on long-term outcomes of anterior spinal fusion for adolescent idiopathic scoliosis (AIS). The objective of this single-centre retrospective study was to assess clinical and radiological outcomes of one-stage anterior spinal fusion achieved using precontoured titanium anterior screw-plates. HYPOTHESIS: Our hypothesis was that anterior instrumentation produced both good functional outcomes and good correction in the coronal and sagittal planes. MATERIAL AND METHODS: This procedure was performed in 111 patients between 1975 and 1993. Among them, those who underwent a comprehensive evaluation at least 15 years later were included. The SRS-30 questionnaire and Oswestry Disability Index (ODI) were used to assess functional outcomes. Radiographic outcomes were evaluated on antero-posterior and lateral full-spine radiographs obtained pre-operatively, post-operatively, and at last follow-up. RESULTS: The study included 35 patients, who were re-evaluated after a mean of 21 years (15-31 years). Mean pre-operative Cobb's angle was 44°, mean age at surgery was 14.7 years, mean SRS-30 score was 3.65/5, and mean ODI was 14.9%. At last follow-up, mean Cobb's angle was 14.7° and 25 patients exhibited coronal misalignment with a mean deviation of 12mm. In the sagittal plane, the mean sagittal vertical axis (SVA) measured using the C7 plumb line was -28mm, with 8mm of anterior translation compared to the post-operative value (36mm). The functional outcome assessed using the SRS-30 score correlated significantly with pelvic tilt and anterior SVA translation. CONCLUSION: Anterior spinal fusion produces good long-term functional outcomes in AIS. Correction is both satisfactory and sustained. Anterior SVA translation over time may be associated with better functional outcomes. LEVEL OF EVIDENCE: IV (retrospective study).

Osteochondritis dissecans of the humeral capitellum in children.

We studied 13 cases of osteochondritis dissecans of capitellum humeri in 12 children, 11 boys and 1 girl, aged between 10 and 15 years. We distinguished this affection from Panner's disease which affects young children and resembles Legg-Perthes-Calvé disease of the hip. Operative treatment was performed in 7 out of 13 elbows for removal of loose bodies or excision of osteochondritis in situ with cartilage damage. In other cases, functional treatment was carried out. At long-term follow-up, ranging from 2 to 13 years, clinical examination demonstrated satisfactory results in 9 cases; in 3 cases limitation of movement was related to fracture of the radial head or to delay in operative treatment for too long. Roentgenographically, changes related to growth disturbance were constantly observed; they involved the radial head, the olecranon, the trochlea and the proximal end of the ulna.

Desepiphysiodesis--elimination of partial premature epiphyseal closure. Experience of 17 cases.

Between 1975 and 1990, 17 growth plates have been operated on by epiphyseal bridge resection. The children were from 4 years and 10 months to 13 years and 10 months old. The etiology of partial closure was traumatic (10 times), caused by therapeutic mistakes (3 times), septic osteomyelitis (1 case), purpura fulminans (1 case), unknown (2 cases). There was always length discrepancy or deformity of bone. The regions that have been subjected to treatment were distal femur, proximal tibia, distal tibia, distal radius. Evaluation of the bone bridge was made by tomoscintigraphies and recently by MR imaging and computed tomoscintigraphy. The bone bridge size was from 2.5% to 60% of the growth plate surface; surgical technique consists of resection of bone bridge connecting epiphysis and metaphysis which is replaced by methyl metacrylate. In 16 cases simultaneous corrective osteotomy was performed. Results are poor, there were only two good results and 8 failures; seven results were medium. The failures can all be explained by mistakes in technique or indication, except one. Indications are post-traumatic narrow bridges in young children. It would be useful to know the vitality of the residual growth plate.

[Are there still indications for femoral osteotomy?]. / Que reste-t-il comme indications aux ostéotomies fémorales?

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.

[Are there still indications for Colonna's capsular arthroplasty?]. / L'arthroplastie capsulaire de Colonna a-t-elle encore des indications?

The Colonna arthroplasty was used in previous years in the treatment of severe CDH in children or even in the treatment of severe incongruities or subluxations. For most of these indications, other techniques are currently used, owing to both the current rarity of severe dislocation and delayed diagnosis and to improved pelvic osteotomies, in some cases associated with open reduction. Despite its complications, the Colonna arthroplasty still gives very good results if it is performed with a perfect technique. Presently the only indications are subluxation in the older child, which is very rare in developed countries, and failures or sequellae of the initial treatment when the articular space is severely damaged. The Colonna operation has now become a salvation procedure.

[Pavlik's harness in congenital hip dislocation before the first birthday]. / Le harnais de Pavlik dans la luxation congénitale de hanche avant un an.

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.

[Association of Ewing's sarcoma with fibrous dysplasia of the tibia. Apropos of a case report]. / Association sarcome d'Ewing et dysplasie fibreuse du tibia. A propos d'une observation.

The authors have observed a child of 14 presenting fibrous dysplasia localised to the right femur and right tibia and complicated by an Ewing's sarcoma of the right tibia. The complication was marked only by pain and the radiographs were not typical. It was diagnosed only by microscopic examination after biopsy. Scintigraphy did not reveal any other site of fibrous dysplasia. The tibia was treated by a reinforcing nail followed by radiotherapy and chemotherapy. After a 4 year follow-up there was neither recurrence nor metastasis. After a review of the literature it is concluded that this combination was purely accidental and that there is no known relationship between Ewing's sarcoma and Jaffe-Lichtenstein type of fibrous dysplasia. It is remarkable that the sarcoma was not typical clinically and that the satisfactory result was probably related to very early treatment.

[Hemivertebra. -- classification, natural history and prognosis (author's transl)]. / Les hémi-vertèbres. Classification, historie naturelle et éléments de pronostic.

The authors have studied a series of seventy patients with hemivertebra. Classification should be based on two criteria--firstly, that the hemivertebra can be fused or separate and secondly, vertebrae above and below the hemivertebra may or may not show transitional abnormality. The natural history may take one of three courses: 1--Deformity may be severe from the beginning in cases of separate hemivertebra associated with transitional abnormalites. 2--The deformity may be stable until the age of nine or ten years, after which a severe scoliosis or kypho-scoliosis may develop. 3--The deformity may be stable throughout the whole of the growing period. The prognosis should be based on the existence of transitional abnormalities, the characteristics of the hemisvertebra (separate or fused), the sex of the patient, assoicated congenital defects, the rotation of the hemivertebra, and the level of the deformity. Treatment should be surgical in cases with early progression during the first few years of life by excision of the hemisvertebra associated with correction using Harrington rods. At the thoracic level, this surgical procedure is dangerous and spine fusion is more appropriate. The second period for surgical treatment is at puberty, either by spine fusion or correction and fusion. At this age, excision of the hemivertebra may still be indicated in the lumbar spine.

[Pyogenic sacroiliitis in children. Apropos of 11 cases]. / Sacro-iliites à pyogène de l'enfant. A propos de 11 cas.

PURPOSE OF THE STUDY: Sacroiliitis in children is a rare disease. Since 1878, only 100 cases have been reported in the international literature. MATERIALS AND METHODS: We reviewed a series of 11 cases (mean age of 7.75 years) with a delay of 45 months. All the patients had limp, and hip pain. RESULTS: The clinical examination found each time F.A.B.E.R.E. and Glaensen signs. The hip mobility was limited most of time. There was a non specific inflammatory syndrome. Roentgenogram signs were delayed, and associated widening of the joint, geodes, condensation, and at an ultimate stage, fusion of the joint. Tc 99m scintigraphy always showed the localisation. DISCUSSION: This examination shortened the diagnosis delay, C-T scan was performed twice. It allowed visualize the local extension and complication such as abscess. It facilitated the indication of the surgical approach, and results can be appreciated through follow up CT scan studies. The germ was rarely determined as it has been reported in the literature. Therefore an articular ponction must be performed each time a sacroiliitis is suspected, under general anesthesia and associated to an arthrography or under CT scan control. Surgical drains were placed five times only. The authors limited their indication to an important collection, an abscess, or an intra-articular sequestra. CONCLUSION: At the maximum follow up (mean 45 months) all patients had a normal clinical exam. Each time there were joint modification on the roentgenogramm but without any functional correlation.

[Treatment of post-traumatic cubitus varus in children. A propos of 32 cases]. / Traitement du cubitus varus post-traumatique de l'enfant. A propos de 32 cas

The authors have reviewed 32 cases of severe varus deformity following supra-condylar fractures in childhood. The sequellae were mainly cosmetic, the function being preserved. All cases were treated by supra-condylar osteotomy fixed by screwing. The technique is described. The results were satisfactory in 20 cases.

[Congenital pseudarthrosis of the tibia and fibula in children. Results of the treatment of 18 cases with nails and bone grafts]. / Pseudarthroses congénitales du tibia et du péroné chez l'enfant. Résultats du traitement de 18 cas par enclouage et greffe.

Eighteen cases of congenital pseudarthrosis of the leg in 17 children were treated by nailing and tibio-fibular graft with a mean follow-up of six years (from one to twelve years). Six patients had reached the end of growth. Primary union was obtained in 17 cases in a mean time of 6.5 months (from 3.5 to 18 months), but one case developed a new pseudarthrosis at the level of an associated upper tibial osteotomy. Only one case required a supplementary graft. Walking was usually achieved without any apparatus after five-and-a-half months, the tibia being protected by a nail which was left in place until the end of growth. In two cases, a fracture produced by trauma occurred in the limb long after consolidation. These two fractures healed in the normal time. Inequality of limb length was present in all the cases, but its progress varied. On three occasions it was treated by femoral lengthening. Stiffness of the ankle and subtaloid joints resulted from nailing of the hindfoot in nine cases and improved very little after freeing of the joints. The use of telescopic rods avoids the need for further operations to change the rod during growth. We consider that this is a reliable method but that, in certain cases, the effects on growth and on the foot can be diminished by appropriate modifications of technique.

[A method of cost evaluation of orthopedic treatment of femoral diaphyseal fractures in school-age children]. / Une méthode d'évaluation du coût du traitement orthopédique des fractures diaphysaires du fémur chez l'enfant d'âge scolaire.

PURPOSE OF THE STUDY: Femoral diaphysis fractures are very frequent in children. The objective of this study was to evaluate the cost of orthopaedic treatment for femoral diaphysis fracture in school's age children. MATERIAL AND METHODS: 50 femoral fractures were reviewed at an average of 5 years follow-up with many economic parameters. DISCUSSION: Different treatments are available for this type of fracture. Actually, there is a controversy between orthopaedic and surgical treatment and no one gives better long term results. Therefore economic reasons can help for the choice of the method when the final result is equivalent. The same study should be realized for other available fracture treatments. CONCLUSION: Future studies should use the same methodology in order to obtain the real cost of each treatment.

[Limited osteochondritis complicating coxa valga in children (author's transl)]. / Ostéochondrite parcellaire sur coxa valga chez l'enfant. A propos de 8 observations.

Height cases of limited "osteochondritis" were observed in children showing some degree of coxa valga. The radiological appearances were different from those of Perthe's disease and resembled those of osteochondritis dissecans of the knee but with stability during their development. These "osteochondritis" were often bilateral; all the patients were male. In four cases some degree of platyspindyly was seen. It is thought that these hips are earlier and limited varieties of osteo-chondrodysplasia. The indications for varus osteotomy are discussed.

[Transient synovitis of the hip in childhood. "observation hip" (author's transl)]. / La synovite aiguë transitoire de hanche de l'enfant et son avenir à long terme. Le "rhume de la hanche".

Thirty-eight children suffering of a transient synovitis of the hip joint have been reviewed with a follow up of 2 to 20 years (mean 7 years). It appears that this affection is not as benign as it seems, for in 1/3 of the cases it remains clinical and roentgenographic sequelae some of them looking like a minor degree of Legg Perthes' disease. The authors insist on the treatment, with traction in bed, and on the necessity of a new roentgenogram 45 days after the onset of the illness, to exclude the risk of an osteochondritis of the hip joint. Nuclide bone scan cannot affirm the diagnosis of transient synovitis, but can only eliminate an osteochondritis of the hip when it shows hyperfixation of the hip.

[Results of the orthopedic treatment of scoliosis in children under 7 years of age. Apropos of 75 cases]. / Résultats du traitement orthopédique dans les scolioses de l'enfant de moins de 7 ans. A propos de 75 cas.

Seventy five children suffering from scoliosis under the age of 7 years have been treated by the authors. The treatment was commenced before the age of 4 in infantile scoliosis and before the age of 6 in juvenile scoliosis. It was based on the use of the Milwaukee brace used directly in cases of angulation less than 50 degrees and preceded by a plaster cast in other cases. The treatment was continuous with sometimes a few hours of freedom from bracing. Occasionally the treatment had to be stopped. The development of the curve was very variable. The authors have distinguished seven different types of development. The prognosis was therefore difficult to establish and was mainly based on the specific features of the progress of the curve. At puberty, deterioration was often seen despite bracing and there were many indications for spine fusion.

[Total hip prosthesis for chronic juvenile arthritis. A review of a series of 34 prosthesis]. / Arthroplastie totale de hanche dans l'arthrite chronique juvénile. Revue d'une série de 34 prothèses.

PURPOSE OF THE STUDY: The purpose of this study was to analyse the results of total hip arthroplasty for chronic juvenile arthritis in order to evaluate risks, problems and benefits of this procedure. MATERIAL AND METHODS: Between 1984 and 1992, 34 total hip prostheses were implanted for chronic juvenile arthritis in 20 patients. Most prosthesis were Zweymuller cementless prosthesis. Mean follow up was 5 years. RESULTS: Results were good. In 85 per cent of cases, patients had a normal activity recovery. Pain relief was very good since in 80 per cent cases patients had a total indolence. DISCUSSION: Beyond these good clinical results at this mean follow-up, the main interest of this study is to characterize two different periods in the surgical technique. The first period when cemented prosthesis was employed and the second one when cementless femoral implants with screwed acetabular component were used. Cementless prostheses appear to be a satisfying solution in this disease, preserving bones and showing very good radiological and functional results. CONCLUSION: Furthermore, the very low complication rate despite general discomfort may prompt us to use total hip arthroplasty for the treatment of chronic juvenile arthritis.

[Hemimelica epiphysialis dysplasia (author's transl)]. / Dysplasie épiphysaire hémimélique (tarsomégalie). Aspects cliniques, radiologiques et évolutifs, traitement chirurgical. A propos de huit observations.

Hemimelica Epiphysialis Dysplasia is a rare osteochondrodystrophy producing cartilaginous epiphysial hypertrophy with hemimelic topography involving preferentialy the lower limb. Lesions are generally medialy situated (medial condyle of the femur, medial malleolus talus, tarsal scaphoid and first metatarsal bone). 8 cases of patients are discussed with a follow up of 4 years. The evolution is to a massive ossification of the hypertrophic cartilaginous areas. The issue is a fast arthrosic degeneration of the involved joints (mainly the ankle, more rarely the knee). The surgical procedures are often unsuccessful.

[Expanding intramedullary rods in the treatment of osteogenesis imperfecta (author's transl)]. / L'enclouage centro-médullaire télescopique chez l'enfant atteint d'ostéogenèse imparfaite.

Eleven cases of osteogenesis imperfecta were treated by corrective osteotomies and fixation with expanding intramedullary rods. The authors have used the Bailey-Dubow nail. Despite a short follow-up (average one year) they think that the device will avoid future repeated changes of rods during the growing period. Several technical pitfalls are described. It is thought that the same technique could be applied to congenital pseudarthrosis of the tibia.