Townes-Brocks syndrome (TBS) is an autosomal dominant disorder with multiple malformations and variable expression. Major findings include external ear anomalies, hearing loss, preaxial polydactyly and triphalangeal thumbs, imperforate anus, and renal malformations. Most patients with Townes-Brocks syndrome have normal intelligence, although mental retardation has been noted in a few. (+info)
Hyper-IgE syndrome with recurrent infections--an autosomal dominant multisystem disorder.
(2/1119)
BACKGROUND: The hyper-IgE syndrome with recurrent infections is a rare immunodeficiency characterized by recurrent skin and pulmonary abscesses and extremely elevated levels of IgE in serum. Associated facial and skeletal features have been recognized, but their frequency is unknown, and the genetic basis of the hyper-IgE syndrome is poorly understood. METHODS: We studied 30 patients with the hyper-IgE syndrome and 70 of their relatives. We took histories, reviewed records, performed physical and dental examinations, took anthropometric measurements, and conducted laboratory studies. RESULTS: Nonimmunologic features of the hyper-IgE syndrome were present in all patients older than eight years. Seventy-two percent had the previously unrecognized feature of failure or delay of shedding of the primary teeth owing to lack of root resorption. Common findings among patients were recurrent fractures (in 57 percent of patients), hyperextensible joints (in 68 percent), and scoliosis (in 76 percent of patients 16 years of age or older). The classic triad of abscesses, pneumonia, and an elevated IgE level was identified in 77 percent of all patients and in 85 percent of those older than eight. In 6 of 23 adults (26 percent), IgE levels declined over time and came closer to or fell within the normal range. Autosomal dominant transmission of the hyper-IgE syndrome was found, but with variable expressivity. Of the 27 relatives at risk for inheriting the hyper-IgE syndrome, 10 were fully affected, 11 were unaffected, and 6 had combinations of mild immunologic, dental, and skeletal features of the hyper-IgE syndrome. CONCLUSIONS: The hyper-IgE syndrome is a multisystem disorder that affects the dentition, the skeleton, connective tissue, and the immune system. It is inherited as a single-locus autosomal dominant trait with variable expressivity. (+info)
The immediate effect of a Boston brace on lung volumes and pulmonary compliance in mild adolescent idiopathic scoliosis.
(3/1119)
Idiopathic scoliosis (IS) is known to result in lung volume and pulmonary compliance reduction. Boston brace treatment of IS is an additional factor causing restrictive respiratory syndrome due to external chest wall compression. Nevertheless, the immediate effect of Boston bracing on the pulmonary compliance of scoliotic patients has not been studied systematically. Spirometric and plethysmographic lung volumes, static lung compliance (C(ST)(L)) and specific lung compliance (C(ST)(L)/functional residual capacity) of 15 scoliotic adolescents (14 females and 1 male, of mean age 14.1+/-1.67 years, with mean Cobb angle 24.1 degrees+/-7.88 degrees) were recorded twice, in a random sequence: once without the Boston brace (nBB) and once immediately after wearing the brace (BB). Our findings showed that bracing reduced vital capacity, residual volume, functional residual capacity (FRC), total lung capacity, and forced expiratory volume in 1s in a proportional and significant way (P < 0.001). C(ST)(L) was also significantly reduced (P < 0.001), but C(ST)(L)/FRC remained unaltered. All BB and nBB indices were highly correlated. We concluded that Boston bracing in IS patients results in an immediate, predictable, and uniform reduction of lung volumes and pulmonary compliance. The reduction of C(ST)(L) under bracing conditions was related to the decrease of lung volume; the C(ST)(L)/FRC remained unaltered. (+info)
Cotrel-Dubousset instrumentation for the treatment of severe scoliosis.
(4/1119)
In a multicentric study, 36 cases (40 curves) of severe scoliosis were analysed; 19 were idiopathic and 17 neurological, Cobb angles ranged from 70 degrees to 145 degrees, all had undergone three-rod Cotrel-Dubousset (CD) instrumentation. The correction on the frontal plane achieved more than 50% of the preoperative angle (53.9% for idiopathic curves and 55.6% for neurological ones). On the sagittal plane the pathological shape of the spine was reduced and distinctly ameliorated. In ten patients, the authors successfully applied a technique, alternative to the original one, which was based on the use of two or three screws in the lumbar area, one supplementary pedicle transverse claw on the cranial area and two rods connected by a domino, instead of a single rod (the longer one applied on the concave side). The main complications were: one case of infection, three of vascular compression of the duodenum, one of crank-shaft phenomenon and one laminar hook displacement. The excellent result achieved in both, idiopathic and neurological severe and stiff scoliosis shows the efficacy, reliability and versatility of CD three-rod instrumentation. (+info)
Long-term three-dimensional changes of the spine after posterior spinal instrumentation and fusion in adolescent idiopathic scoliosis.
(5/1119)
This is a prospective study comparing the short- and long-term three-dimensional (3D) changes in shape, length and balance of the spine after spinal instrumentation and fusion in a group of adolescents with idiopathic scoliosis. The objective of the study was to evaluate the stability over time of the postoperative changes of the spine after instrumentation with multi rod, hook and screw instrumentation systems. Thirty adolescents (average age: 14.5+/-1.6 years) undergoing surgery by a posterior approach had computerized 3D reconstructions of the spine done at an average of 3 days preoperatively (stage I), and 2 months (stage II) and 2,5 years (stage III) after surgery, using a digital multi-planar radiographic technique. Stages I, II and III were compared using various geometrical parameters of spinal length, curve severity, and orientation. Significant improvement of curve magnitude between stages I and II was documented in the frontal plane for thoracic and lumbar curves, as well as in the orientation of the plane of maximum deformity, which was significantly shifted towards the sagittal plane in thoracic curves. However, there was a significant loss of this correction between stages II and III. Slight changes were noted in apical vertebral rotation, in thoracic kyphosis and in lumbar lordosis. Spinal length and height were significantly increased at stage II, but at long-term follow-up spinal length continued to increase while spinal height remained similar. These results indicate that although a significant 3D correction can be obtained after posterior instrumentation and fusion, a significant loss of correction and an increase in spinal length occur in the years following surgery, suggesting that a crankshaft phenomenon may be an important factor altering the long-term 3D correction after posterior instrumentation of the spine for idiopathic scoliosis. (+info)
Complications of scoliosis surgery in children with myelomeningocele.
(6/1119)
The purpose of the present study was to evaluate whether the high incidence of complications in scoliosis surgery in myelomeningocele (MMC) could be attributed to the surgical technique and whether improvements were possible. Between 1984 and 1996, 77 patients with MMC and scoliosis were treated surgically. The clinical and radiological follow-up ranged from 1 to 10 years with a mean follow-up of 3.6 years. The mean age at time of surgery was 12 years 8 months. The average preoperative scoliosis measured 90.20 degrees and was corrected by 47%. The first four patients were stabilized with Harrington rods after anterior correction with a Zielke device (group 1). Twenty-five patients were operated only from posterior, using Cotrel-Dubousset (CD) instrumentation (group 2). In 13 patients an anterior release and discectomy was performed prior to CD posterior instrumentation (group 3). In 26 patients (group 4) this was combined with an anterior instrumentation. The 9 patients of group 5 had congenital vertebral malformations which made a special treatment necessary. Complications could be divided into hardware problems, such as implant failure, dislocation or pseudarthrosis, infections, anesthetic, and neurologic complications. Hardware problems were seen in 29% of all patients. More hardware problems were seen with the Harrington rod (75%) and after solitary posterior instrumentation (30%). The occurrence of pseudarthrosis was dependent on the surgical technique, the extent of posterior spondylodesis, and lumbosacral fusion. Patients with hardware problems had a mean loss of correction of 49% compared to 13% in the other patients. Depending on the different surgical techniques a loss of more than 30% was seen in 12-75% of the cases. Early postoperative shunt failure occurred in four cases; delayed failure - after more than 1 year - in three cases. One patient died within 1 day due to an acute hydrocephalus, another died after 2 1/2 years because of chronic shunt insufficiency with herniation. Wound problems were not dependent on the surgical technique, but on the extent of posterior spondylodesis and the lumbosacral fusion. Based on this analysis we believe our current practice of instrumented anterior and posterior fusion is justified. Further, we are very careful to check shunt function prior to acute correction of spinal deformity. (+info)
Prenatal sonographic features of spondylocostal dysostosis and diaphragmatic hernia in the first trimester.
(7/1119)
Spondylocostal dysostosis is a congenital disorder characterized by multiple malformations of the vertebrae and ribs. We describe the sonographic features of an affected fetus at 12 and 14 weeks of gestation. The fetus had thoracic scoliosis, multiple vertebral and rib malformations and a grossly dilated stomach that had herniated into the chest through a left-sided diaphragmatic hernia. The stomach spanned the whole length of the fetal trunk. (+info)
Complement activation and increased systemic and pulmonary vascular resistance indices during infusion of postoperatively drained untreated blood.
(8/1119)
In nine healthy young patients, operated on for thoracic scoliosis, a pulmonary artery catheter was inserted for the study of haemodynamic variables and blood sampling during autologous transfusion of postoperatively drained blood. At 1-3 h after wound closure, 10 ml kg/body weight of drained untreated blood from the wound was collected and recirculated over a l-h period. The concentration of the complement activation product, C3bc, increased from a mean of 5.4 (SD 1.5) AU ml-1 before infusion to 11.1 (3.9) AU ml-1 during infusion and then returned to 7.8 (2.8) AU ml-1 after infusion. The concentration of the terminal complement complex (TCC) increased from 0.5 (0.2) to 1.3 (0.5) AU ml-1 and was reduced to 0.7 (0.3) AU ml-1 after infusion. Only TCC exceeded the reference values which are 14 AU ml-1 for C3bc and 1.0 AU ml-1 for TCC. Pulmonary vascular resistance index concomitantly increased from a mean of 130 (SD 52) to 195 (88) dyn s cm-5 m-2 and was reduced to 170 (86) dyn s cm-5 m-2 after infusion. Systemic vascular resistance index increased from a mean of 1238 (SD 403) to 1349 (473) dyn s cm-5 m-2 and returned to 1196 (401) dyn s cm-5 m-2 after infusion. White blood cell count (WCC) increased from 14.4 (4.3) x 10(9) litre-1 before infusion to 17.8 (7.2) x 10(9) litre-1 during and after infusion. No change in platelet count during infusion was observed. There were no differences in WCC or platelet count between mixed venous or peripheral arterial blood. Pulmonary and systemic vascular resistance indices may be influenced by activated complement in drained untreated blood when it is recirculated. (+info)