Microdeletion 22q11 and oesophageal atresia. (1/2187)

Oesophageal atresia (OA) is a congenital defect associated with additional malformations in 30-70% of the cases. In particular, OA is a component of the VACTERL association. Since some major features of the VACTERL association, including conotruncal heart defect, radial aplasia, and anal atresia, have been found in patients with microdeletion 22q11.2 (del(22q11.2)), we have screened for del(22q11.2) by fluorescent in situ hybridisation (FISH) in 15 syndromic patients with OA. Del(22q11.2) was detected in one of them, presenting with OA, tetralogy of Fallot, anal atresia, neonatal hypocalcaemia, and subtle facial anomalies resembling those of velocardiofacial syndrome. The occurrence of del(22q11.2) in our series of patients with OA is low (1/15), but this chromosomal anomaly should be included among causative factors of malformation complexes with OA. In addition, clinical variability of del(22q11.2) syndrome is further corroborated with inclusion of OA in the list of the findings associated with the deletion.  (+info)

Cat-scratch disease with paravertebral mass and osteomyelitis. (2/2187)

The case of a 9-year-old girl with cat-scratch disease (CSD) complicated by development of a paravertebral mass and osteomyelitis is presented. Following multiple scratches and inguinal lymphadenopathy, she developed back pain, and imaging demonstrated a paravertebral mass with evidence of osteomyelitis involving vertebra T9. The diagnosis was made on the basis of detection of Bartonella henselae by use of molecular techniques on an aspirate from the vertebral column and supportive serology for infection with B. henselae. Eleven other cases of this unusual manifestation associated with CSD have been reported in the literature and are reviewed. The patient was treated with gentamicin, followed by rifampicin and trimethoprim-sulfamethoxazole, orally and made a favorable recovery over 7 months. This is comparable with other case reports, regardless of the choice of antibiotic therapy. CSD in immunocompetent hosts is not always self-limiting, and tissues beyond the lymph nodes can be involved.  (+info)

Morphological adaptation to thermal stress in a marine fish, Fundulus heteroclitus. (3/2187)

Populations of Fundulus heteroclitus (Cyprinodontidae), a coastal marine fish, were studied in control and artificially heated environments on the north shore of Long Island to determine patterns of variation in morphology and the extent to which this variation reflected adaptation to environmental characteristics. Principal components and discriminant function analyses were used to analyze variation in and among seventeen morphological characters. Fishes living in water artificially heated by a power plant exhibited marked divergence from control populations in head morphology, and convergence with a population sampled at more southern latitudes. Hence, these differences were interpreted as adaptations to warm environments. Greater morphological variation is detected at the heated locality than at control localities, and this may be partially due to a breakdown in developmental homeostasis, and partially due to selection favoring phenotypes that are rare in this environment.  (+info)

Cotrel-Dubousset instrumentation for the treatment of severe scoliosis. (4/2187)

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. (5/2187)

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. (6/2187)

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)

Characteristics of an extended internal fixation system for polysegmental transpedicular reduction and stabilization of the thoracic, lumbar, and lumbosacral spine. (7/2187)

The Kluger internal fixator, with its artificial fulcrum outside the operative site, had to be extended for multisegmental use. Three different prototypes, called Central Bar (CB), Double Bar I (DB I) and Double Bar II (DB II) were designed, which were fully compatible with the existing reduction system. To evaluate the ability of these newly developed systems to provide primary stability in a destabilized spine, their stiffness characteristics and stabilizing effects were investigated in multidirectional biomechanical stability tests and compared with those of the clinically well-known Cotrel-Dubousset (CD) system. The investigations were performed on a spine tester using freshly prepared calf spines. The model tested was that of an intact straight spine followed by a defined three-column lesion simulating the most destabilizing type of injury. Pure moments of up to 7.5 Nm were continuously applied to the top of each specimen in flexion/extension, left/right axial rotation, and left/right lateral bending. Segmental motion was measured using a three-dimensional goniometric linkage system. Range of motion and stiffness within the neutral zone were calculated from obtained load-displacement curves. The DB II attained 112.5% (P = 0.26) of the absolute stiffness of the CD system in flexion and enhanced its stability in extension by up to 144.3% (P = 0.004). In axial rotation of the completely destabilized spine, this system achieved 183.3% of the stiffness of the CD system (P < 0.001), and in lateral bending no motion was measured in the most injured specimens stabilized by the DB II. The DB I, which was the first to be designed and was considered to provide high biomechanical stability, did not attain the stiffness standard set by the CD system in either flexion/extension or axial rotation of the most injured spine. The study confirms that it is worthwhile to evaluate in vitro the biomechanical properties of a newly developed implant before its use in patients, in order to refine weak construction points and help to reduce device-related complications and to better evaluate its efficacy in stabilizing the spine.  (+info)

Prenatal sonographic features of spondylocostal dysostosis and diaphragmatic hernia in the first trimester. (8/2187)

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)