Aberrant FHIT transcripts in cancerous and corresponding non-cancerous lesions of the digestive tract

We lengthened seven first metatarsals in four patients with short great toes by callus distraction using an external fixator. Good clinical and cosmetic results were obtained. Bone lengthening is effective in patients with short great toes not only for cosmesis, but also to relieve pain and callosities on the plantar aspect of the second and third metatarsal heads. Excessive lengthening of the first metatarsal resulted in limitation of the range of movement of the metatarsophalangeal joint of the great toe. To prevent this the amount of lengthening should not exceed 40% of the preoperative length of the metatarsal.     

Callus distraction for lengthening of mid-hand and finger stumps in congenital hand abnormalities--personal results and review of the literature

Distraction-lengthening technique is quite useful in a variety of congenital hand deformities with hypoplastic, or primary normal but secondary shortened (constriction ring syndrome) finger rays. It appears that around the age of two years is the earliest practical time to start distraction; certainly distraction and secondary surgical procedures to improve function should be completed before school entry age whenever possible. Between June 1990 and March 1993, nine distraction lengthening procedures (5 thumbs, 1 index, 3 little fingers) in five patients presenting with congenital hand deformities, were carried out. Although restoring length to the finger, lengthening does not provide normal circumference or, of course, interphalangeal joint motion. Amelioration in function seems to be more important than the esthetic gain. Distraction lengthening tolerates only few errors of indication, operative technique, and/or postoperative management. A high compliance of the patient and her/his parents as well as a close follow-up by an experienced surgeon, are mandatory for a good result. A variety of possible complications have been described. Generally, complication risk increases in cases of simultaneous and multiple level lengthening. Provided adequate operative technique and postoperative care, superficial pin infection and fracture in the region of distraction are the major complications. Contrary to adults, sufficient bone formation by distraction is the rule in children. Therefore, the distraction-lengthening technique is preferred to the distraction-interposition technique in the treatment of congenital hand deformities. The latter should only be used as a salvage procedure in the rare cases of insufficient callus formation. Because of the missing growth potential and reduced joint mobility, distraction lengthening is the therapy of second choice when compared to microvascular second toe transplantation.     

The treatment of congenital brachymetatarsia by one-stage lengthening

We performed one-stage lengthening using intercalary autogenous bone graft in 34 metatarsals and seven proximal phalanges in 21 patients with congenitally short metatarsals. At operation, in order to decrease the tension in the surrounding soft tissues, we gradually distracted the osteotomies of the affected bones for 20 to 30 minutes. The patients, all women, were followed up for a mean period of 2.1 years (1 to 6.5). The average gain in length for the 34 metatarsal procedures was 14 mm (6 to 21), equivalent to an increase of 32% (11 to 51), and for the seven proximal phalangeal lengthenings 8 mm (5 to 11), an increase of 54% (47 to 65). There was no evidence of neurovascular impairment. The technique of gradual distraction during operation is simple and effective. It overcomes the disadvantages of one-stage lengthening such as a small gain in length and neurovascular damage.     

Rigid external distraction: its application in cleft maxillary deformities

Patients with severe maxillary hypoplasia secondary to congenital facial clefting present numerous challenging problems for the reconstructive surgeon. Traditional surgical/orthodontic approaches for these patients often fall short of expectations, especially for achieving normal facial aesthetics and proportions. The purpose of this paper is to present our clinical experience and cephalometric results with the use of rigid external distraction for the treatment of patients with severe maxillary deficiency. Eighteen consecutive orofacial cleft patients with severe maxillary hypoplasia were treated with maxillary distraction osteogenesis. Criteria for patient selection included severe maxillary hypoplasia with negative overjet of 8 mm or greater, patients with normal mandibular morphology, and patients with full primary dentition or older. There were 10 unilateral cleft lip and palate patients, 6 bilateral cleft lip and palate patients, and 2 patients with severe congenital facial clefting. A maxillary splint was prepared for each patient, and all patients underwent a high Le Fort I maxillary osteotomy. All surgery was performed on either an outpatient or a 23-hour admission basis. No patient required blood transfusions or intermaxillary fixation. Two types of mechanical distraction were utilized in this series. In group 1 (n = 14), the patients underwent rigid external distraction with an external distraction device. In group 2 (n = 4), patients underwent face mask distraction with elastics. There was no surgical morbidity in any of the patients. For the patients in the rigid external distraction group, the mean effective horizontal advancement of the maxilla was 11.7 mm. All of these patients had correction of their negative overjet. For patients in the face mask distraction group, the results were disappointing. The mean effective advancement of the maxilla in this group was only 5.2 mm. In all face mask distraction patients, the initial maxillary hypoplasia was undercorrected. Maxillary distraction osteogenesis with rigid external distraction permits full correction of the midfacial deficiency, including both the skeletal and soft-tissue deficiencies. Rigid external distraction in patients with severe maxillary hypoplasia allows full correction of the deformity through treatment of the affected region only. It offers the distinct advantage of correcting these severe deformities through a minimal procedure. Rigid external distraction has dramatically improved our treatment results for patients with severe cleft maxillary hypoplasia.     

Intraoperative arthrography and the Ilizarov technique. Role in the correction of paediatric deformity and leg lengthening

We performed intraoperative arthrography of the knee in 12 children with congenital short femur, Blount's disease or Ollier's disease in whom the Ilizarov technique was used for correction of deformity, leg lengthening or both. In each case, arthrography revealed a joint surface considerably different from that assumed from plain radiographs, and resulted in a change in the placement of our reference wires before application of the frame. This gave significant improvement in the mechanical axis obtained at the time of removal of the frame. The technique is safe, cheap and easy to perform. It is a useful adjunct to the application of the Ilizarov frame when used for complex lengthening and correction of deformity in the leg.     

Deletions in HOXD13 segregate with an identical, novel foot malformation in two unrelated families

Synpolydactyly (SPD) is a dominantly inherited congenital limb malformation consisting of 3/4 syndactyly in the hands and 4/5 syndactyly in the feet, with digit duplication in the syndactylous web. The condition recently has been found to result from different-sized expansions of an amino-terminal polyalanine tract in HOXD13. We report a novel type of mutation in HOXD13, associated in some cases with features of classic SPD and in all cases with a novel foot phenotype. In two unrelated families, each with a different intragenic deletion in HOXD13, all mutation carriers have a rudimentary extra digit between the first and second metatarsals and often between the fourth and fifth metatarsals as well. This phenotype has not been reported in any mice with genetic modifications of the HoxD gene cluster. The two different deletions affect the first exon and the homeobox, respectively, in each case producing frameshifts followed by a long stretch of novel sequence and a premature stop codon. Although the affected genes may encode proteins that exert a dominant negative or novel effect, they are most likely to act as null alleles. Either possibility has interesting implications for the role of HOXD13 in human autopod development.     

Intermittent distracting rod for correction of high neurologic risk congenital scoliosis

STUDY DESIGN: Report of three cases of severe congenital scoliosis corrected by a new device. OBJECTIVES: To show a new, safe alternative for treatment to achieve and maintain correction of the most severe spinal deformity. SUMMARY OF BACKGROUND DATA: Because of neurologic risk, severe congenital scoliosis is usually not instrumented. Gradual correction seems to be safer for the spinal cord and to produce more efficient results because of the viscoelastic properties of the spine. METHODS: A new device was used in three patients with congenital scoliosis. This device is placed by a posterior approach and permits correction of the scoliosis by slow, intermittent distraction. The gear of the elongation mechanism is activated by an extender placed subcutaneously. The correction takes place in the conscious patient, under rigorous neurologic control. RESULTS: At the end of the distraction procedure, corrections of the scolioses in the three patients were from 118 degrees to 45 degrees, 104 degrees to 47 degrees, and 137 degrees to 71 degrees, respectively CONCLUSIONS: The new device has proved useful for correcting, efficiently and without neurologic damage, severe scoliosis in three patients, and may be helpful in those curves with high neurologic risk.     

Role of Cahuzac's operation in clubfoot varus equina revision surgery

PURPOSE OF THE STUDY: The authors report 24 cases of revision in recurrent club foot deformity. They assessed Cahuzac's procedure for treatment of the residual forefoot adduction. This procedure (opening of the first cuneo-metatarsal joint and proximal abduction osteotomy of the second, third, and fourth metatarsals) was generally associated with postero-medial, plantar release, and split tibialis anterior tendon transfer. MATERIAL: Twenty four procedures for 20 children at mean age of five years have been performed. The revision chart comprised 12 clinical and radiological items as proposed by Seringe. RESULTS: Seven feet were considered as excellent, 14 as good, 2 as fair, and 1 as poor. The mean follow-up was four years. DISCUSSION: Treatment of the adduction component with Cahuzac procedure is focused on the fore part of the foot, and on the calcaneo-pedal block by postero medial release, but never on the midfoot, as no Evans or Lichtblau's procedure has been performed. This series was compared to others procedures, and morphological results were equivalent. Cahuzac's operation is riskless for foot growth, and needs two approaches which can be useful for simultaneous procedures as split lateral transfer of tibialis anterior tendon. CONCLUSION: Metatarsal osteotomies (Cahuzac's procedure), associated with soft tissues release and split anterior tibial transfer, seems to be effective in surgical treatment of relapsed clubfeet, but the debate concerning the location of the adduction component of the deformity remains still open.     

Intermanual transfer in the monkey as a function of amount of callosal sparing

The effects of commissure section, task difficulty and overtraining on the intermanual transfer of tactile learning have been examined. Twenty-one rhesus monkeys were allocated to 4 groups. One group was subjected to complete transection of the corpus callosum, massa intermedia and posterior commissure. Some of this group also sustained a cerebellar section. A second group received a similar division of the commissures but with part of the posterior body of the corpus callosum left intact. A third group received similar division of the commissures but with the posterior commissure left intact. The fourth group formed an unoperated control group. Animals with only the posterior commissure left intact showed little or no transfer. Animals with partial callosal lesions showed significantly greater transfer than animals with total transections, but were impaired relative to the unoperated controls. Estimates have been made of the number of callosal fibres left intact in the animals with partial callosal lesions. These estimates have been correlated with transfer. The correlation was significant on only one task. Neither task difficulty nor overtraining were found to affect transfer significantly. The comparison of transfer of the submodalities of size and roughness was inconclusive.     

Angiosarcoma in congenital hereditary lymphoedema (Milroy's disease)--diagnostic beacons and a review of the literature

In cases of congenital lymphoedema the finding of ulceration, violaceous nodules or papules, or apparent traumatic ecchymoses should act as a diagnostic beacon warning of dangers. A case is reported of a high-grade angiosarcoma developing in a patient with congenital hereditary lymphoedema (Milroy's disease). This is the second paper to report this complication, the third case report and the first case in which the diagnosis is substantiated by immunohistochemistry and lectin histochemistry. A review of cases of angiosarcoma complicating congenital hereditary and non-hereditary lymphoedema is also presented.     

Evaluation and management of the patient with ulcerative colitis

Subtalar joint dislocation is a rare entity, accounting for only 1% of all traumatic dislocations. The authors report a case of an adolescent with gradual lateral subluxation of an anatomically abnormal subtalar joint with no history of trauma, an extremely rare presentation. The patient also had a congenitally short limb. The patient underwent llizarov leg lengthening along with multiple surgeries of the subtalar joint. The choice of the Ilizarov technique to lengthen the leg and realign the subtalar joint in this case is discussed.     

Correction of long term joint contractures of the hand by distraction. A case report

Joint contractures are a common complication of hand trauma. The conventional treatment consists of arthrolysis, tenolysis and occasionally arthrodesis. Frequently, this does not achieve a good result, particularly when there has been a long delay in presentation. Progressive lengthening of a joint by distraction (joint distraction) allows the release of joint contractures even in cases of failure of traditional methods.We present a case of a delayed (20 years) work related traumatic flexion deformity of the PIP joint of the left index and middle fingers. This was the result of a complete division of both flexor tendons of both fingers.The range of movements, both active and passive, was limited to 90/100° in the index finger and 95/100° in the middle finger. Following joint distraction using our lengthening device (Antão™, Portugal) the patient was able to achieve an active and passive range of movements of 10/100° for the PIP joint of the index finger and 40/100° of the middle.This clinical case shows the simplicity and application of our technique for the correction of joint contractures.     

Radiographic analysis of hallux valgus in women on weightbearing and nonweightbearing

To investigate changes in the radiographic appearance during weightbearing in hallux valgus and to examine the importance of a weightbearing view, a comparative study was performed of accurate dorsoplantar radiographs of 108 symptomatic hallux valgus feet in 73 female patients and 100 normal feet in 69 females, which were taken weightbearing and nonweightbearing. The hallux valgus angle in the hallux valgus group increased on weightbearing, whereas that in the normal group decreased. The intermetatarsal angle between the first and second metatarsals increased on weightbearing in both groups. The degree of the changes of the angles was closely related with the degree of the hallux valgus deformity. The intermetatarsal angle between the fourth and fifth metatarsals decreased on weightbearing in the both groups. A weightbearing view is necessary to evaluate the structural configuration of hallux valgus, because muscle imbalance around the first metatarsophalangeal joint in hallux valgus causes an increase of a hallux valgus angle on weightbearing.     

Mesoaxial complete syndactyly and synostosis with hypoplastic thumbs: an unusual combination or homozygous expression of syndactyly type I?

Syndactyly type I is an autosomal dominant condition with complete or partial webbing between the third and fourth fingers or the second and third toes or both. We report here a previously undescribed phenotype of severe mesoaxial syndactyly and synostosis in patients born to affected parents. The characteristic features of these severe cases are (1) complete syndactyly and synostosis of the third and fourth fingers; (2) severe bone reduction in the proximal phalanges of the same fingers; (3) hypoplasia of the thumbs and halluces; (4) aplasia/hypoplasia of the middle phalanges of the second and fifth fingers; and (5) complete or partial soft tissue syndactyly of the toes. We report on three offspring with this phenotype from two different branches of a syndactyly type I family, suggesting that they may be homozygous for this condition. SSCP and linkage analysis indicated that neither HOXD13 nor other relevant genes in the chromosome 2q31 region was responsible for this phenotype.     

Comparative analysis of Light''s criteria and other biochemical parameters for distinguishing transudates from exudates

We used the Ilizarov method in seven patients with severe congenital radial club hands who had had previous wrist surgery, to correct residual shortening and bowing of the ulna together with recurrent wrist deformity. The mean age at operation was 6.5 years. The mean ulnar shortening was 5.3 cm and the mean angular deformity 42 degrees. The mean length gained was 51% of the original ulna. The mean healing index was 46.9 days (29.8 to 64.0). The ratio of the length of the lengthened ulna to the normal side improved on average from 64% to 95%. The angular deformity was initially completely corrected in six out of seven patients. The length ratio, however, decreased to 83% at the final follow-up. In four patients, the angular deformity partially recurred. We recommend correction of congenital radial club hand by staged procedures. The first is centralisation and stabilisation of the wrist and the second lengthening of the ulna and correction of the angular deformity using the Ilizarov method.     

Rat mandibular distraction osteogenesis: Part I. Histologic and radiographic analysis

The application of distraction osteogenesis to craniofacial surgery has altered the approach and treatment of congenital and acquired craniofacial defects. Although the histologic and ultrastructural changes associated with distraction osteogenesis have been described extensively, relatively little is known about the molecular regulation of this process. The elucidation of the molecular mechanisms of distraction osteogenesis has important clinical implications because it may facilitate the use of recombinant proteins or gene therapy to accelerate bone regeneration. Molecular analysis of distraction osteogenesis has been hindered by the use of large animal models in which only limited genetic information is available. In this study, a rat model of mandibular distraction osteogenesis is described. This report includes a pilot study (n = 50) to develop an appropriate distraction device and to determine the optimal placement of the osteotomy. The study subsequently included 80 animals, 35 of which were distracted at a rate of 0.25 mm per day for 6 days (1.5 mm total) and 35 that were distracted at a rate of 0.25 mm twice per day (3.0 mm total). These animals were killed at various time points (after latency and during the distraction and consolidation periods) and displayed histologic and radiographic findings of membranous bone distraction osteogenesis that were consistent with those in large ,animal and clinical models. In addition, five animals each were acutely lengthened 1.5 mm and 3.0 mm and demonstrated a fibrous nonunion. Furthermore, the utility of this model is demonstrated in the analysis of the molecular mechanisms of distraction osteogenesis by applying the polymerase chain reaction to total cellular RNA isolated from normal and distracted rat mandibles. In conclusion, it is believed that the rat model of distraction osteogenesis has significant advantages over traditional models, including decreased costs and facilitation of molecular analysis.     

Congenital fistula of the fourth branchial pouch

Between 1986 and 1995, 128 patients were treated for various head and neck congenital malformations at Saint-Luc University Hospital, Louvain. We report three cases of fourth branchial pouch cysts requiring surgical removal. One of these cases presented with a third branchial pouch remnant on the same side and subsequently a fourth branchial pouch sinus. To our knowledge, this is the first case published in the literature. A fourth branchial pouch sinus tract can become manifest clinically by recurrent episodes of neck abscess or acute suppurative thyroiditis (especially in infants). The tract can be identified with a barium swallow during the period of latency and hypopharyngeal endoscopy under general anesthesia. Total excision of the fistula with dissection up to the pyriform sinus with or without a left thyroid gland lobectomy and isthmectomy is the treatment of choice.     

Overdiagnosis of major psychiatric disorders in individuals with substance use disorders and personality disorders: the downside of the Woodruff principle

Major vascular injury can result during use of the Ilizarov technique for lower extremity limb lengthening. Vascular reconstruction may be accomplished while leaving the external fixation ring in place. Continued distraction is made possible by leaving sufficient redundancy in the vascular graft.     

Mandibular lengthening by gradual distraction: analysis using accurate skull replicas

Bone lengthening in the upper and lower extremities by gradual distraction has become an accepted procedure. We have used an extraoral device to lengthen the mandible in four patients with unilateral mandibular hypoplasia. Using an accurate skull replica, the proposed corticotomy line, intended direction of lengthening, and appropriate position for the screws were determined. Following distraction, a significant increase in the dimensions of the affected mandible was obtained in each case. In this series, accurate skull replicas proved very useful for defining the anatomy, for surgical simulation and for pre- and postoperative evaluation.     

Value of continued efforts at limb salvage despite multiple graft failures

Treatment of patients with limb-threatening ischemia after multiple failed bypasses remains difficult and controversial. Further revascularization procedures despite failure of the original procedure may be viewed as futile. The purpose of this report is to determine the efficacy of third or fourth revascularization procedures after the original and second procedures fail. Over a 10-year period from January 1, 1983, to December 31, 1992, 312 infrainguinal bypasses were performed on 271 consecutive patients for foot salvage. The overall limb salvage rate was 84%, and the operative mortality rate was 3.7% (10 patients). Sixteen patients (5.8%) had repeat infrainguinal bypasses performed after failure of two or more prior bypass procedures in the same leg. Twenty-three reconstructions were performed in these 16 patients. There were no operative deaths. One half of these patients had major amputations performed within the first year following their tertiary or fourth reconstructive procedure. Sixty-two percent of patients have survived longer than 3 years after their third or fourth procedure. One half of these patients have maintained graft patency and an excellent quality of life. Only 22% of the patients requiring amputation ambulated with a prosthesis, whereas all revascularized patients ambulated. Although this subset of patients is known to have an increased risk of repeated graft failure and limb loss, we believe continued efforts at limb salvage despite multiple previous graft failures is justified.