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Biomedical subjects

J P Dormans

Publications and source records attributed to J P Dormans.

At least 19 recordsLinked to original sources
PubMed2004

Klippel-Feil syndrome: clinical features and current understanding of etiology.

Klippel-Feil syndrome occurs in a heterogeneous group of patients unified only by the presence of a congenital defect in the formation or segmentation of the cervical spine. Numerous associated abnormalities of other organ systems may be present. This heterogeneity requires comprehensive evaluation of all patients and treatment regimes that can vary from modification of activities to extensive spinal surgeries. This also has made delineation of diagnostic and prognostic classes difficult and has complicated elucidation of the genetic etiology of the syndrome. Furthermore, it is unclear whether Klippel-Feil syndrome is a discrete entity, or if it is one point on a spectrum of congenital spinal deformities. Pedigree analysis has identified a human genetic locus for the disease. Mouse models suggest members of the PAX gene family and Notch signaling pathway as possible etiologic candidates. Only by identifying the link between the genetic etiology and the phenotypic pathoanatomy of Klippel-Feil syndrome will we be able to rationalize the heterogeneity of the syndrome.

Humans↗
PubMed2002

Hereditary multiple exostoses: one center's experience and review of etiology.

Hereditary multiple exostosis is a genetic disorder characterized by multiple osteochondromas that can cause pain, deformity, and potential malignant degeneration. Linkage analysis has identified a family of EXT genes which, if mutated, can lose heterozygosity and potentially cause osteochondromas. A database was established of 43 patients with hereditary multiple exostoses treated at a tertiary pediatric healthcare system. Twenty patients had a known family history of the disorder. All patients were diagnosed between birth and 13 years. Symptoms or deformity were observed in the forearms of 29 patients, the knees of 37 patients, and the ankles of 28 patients. Valgus knee deformity related to hereditary multiple exostoses, previously reported to be attributable to proximal tibial changes alone, resulted from proximal tibial or distal femoral valgus deformities in this series. Twenty-seven patients required between one and five surgeries to address their lesions. No patient had malignant degeneration of an osteochondroma; however, three patients had first-degree relatives with transformation of an osteochondroma to chondrosarcoma. This database now may be a resource for additional analysis. By correlating specific genetic mutations with clinical manifestations, it may be possible to stratify patients into subtypes of hereditary multiple exostoses and identify genetic markers associated with malignant degeneration.

Adolescent↗
PubMed2001

A technique of occipitocervical arthrodesis in children using autologous rib grafts.

STUDY DESIGN: Description of an operative technique with an illustrative case report. OBJECTIVES: The technique is presented to provide an alternative to iliac crest graft procedures for achieving occipitocervical fusion in children. This technique is particularly useful in children with instability after extensive decompression or laminectomy and in children with a large protuberant occiput. SUMMARY OF BACKGROUND DATA: The majority of techniques previously described for occipitocervical fusion in children rely on corticocancellous iliac crest autograft. Results generally have been promising; however, it can be difficult to harvest enough graft to span large defects after extensive decompression or to contour an iliac crest graft to a protuberant occiput. Structural rib autograft is superior in terms of availability and its unique and modifiable contour. Theoretical benefits of rib graft include superior strength and lower donor site morbidity. METHODS: The surgical technique is described. A case of a 2-year-old boy with Down's syndrome and myelopathy secondary to cervical instability is reviewed. RESULTS: The patient underwent occipitocervical arthrodesis using the technique described. The child made a full neurologic recovery, and at the 2-years follow-up evaluation, the graft had incorporated and the spine was stable. CONCLUSION: A technique of occipitocervical arthrodesis in children is described using autologous rib graft. This procedure was designed to span large defects or to deal with a large protuberant occiput; however, it is also useful for less demanding cases and may offer several advantages compared with procedures relying on iliac crest graft.

Arthrodesis↗
PubMed2001

The orthopedists' perspective: bone tumors, scoliosis, and trauma.

Although a detailed, comprehensive look at pediatric orthopedists' use of imaging is beyond the scope of this article, we offer an orthopedist's perspective of the role imaging plays in the care of children with tumors, scoliosis, and trauma. Given the growing, dynamic state of a child's skeleton, the long-term consequences of injury must always be considered.

Adolescent↗
PubMed2000

Anterior vertebral screw strain with and without solid interspace support.

STUDY DESIGN: This in vitro biomechanical study examines segmental anterior vertebral screw strain and solid rod construct stiffness with and without the addition of multilevel, threaded cortical bone dowels in a bovine model. OBJECTIVE: To determine whether strain at the bone-screw interface is higher at the end levels during physiologic range loading, and whether solid interspace support decreases segmental strain on the implant. SUMMARY OF BACKGROUND DATA: Anterior instrumentation provides greater correction and preserves distal motion segments. However, nonunion and implant failure are observed more frequently than with posterior segmental instrumentation, and when observed, loss of fixation occurs at the end levels. METHODS: Eight calf spines underwent mechanical testing in the following sequence: 1) intact condition, 2) anterior release with anterior solid rod and bicortical rib grafts, and 3) anterior release with anterior solid rod and threaded cortical bone dowels (L2-L5). Instrumented vertebral screws were used to assess strain within the vertebral body by the near cortex, whereas an anterior extensometer spanning the instrumented segments was used to measure segmental displacements to calculate construct stiffness. The protocol included axial compression (-400 N), right lateral bending (4 Nm (Newton-meter), away from the implant), and left lateral bending (4 Nm, toward the implant). Statistical analysis included a one-way analysis of variance and a Student-Newman-Keuls post hoc test. A pilot study was performed using four additional specimens loaded for 4000 cycles to investigate macroscopic loosening after fatigue loading. RESULTS: In lateral bending toward the implant, the strain was higher at both end levels, with no differences between the rib and dowel reconstructions. The stiffness values were greater than the intact values for both groups. In lateral bending away from the implant, the strain also was higher at both end screws, and the dowel group had less strain at these levels than the rib group. Both groups were stiffer than the intact condition, and the dowel group was stiffer than the rib group. Axial compressive strain also was higher at the end levels, but this difference did not reach statistical significance. The rib group did not reach intact stiffness values, whereas the dowel group was stiffer than the intact condition. The fatigue study showed gross loosening at one or both end levels in all cases. CONCLUSIONS: Higher strain was observed at the bone-screw interface in both end screws of an anterior solid rod construct during lateral bending, which correlates with the clinically observed failure location. This suggests that physiologic range loading may predispose to failure at the end levels. Disc space augmentation with solid implants increased construct stiffness in all three load paths and decreased strain at the end levels in lateral bending away from the implant. Future implant modifications should achieve better fixation at the end screws, and the current model provides a means to compare different strategies to decrease strain at these levels.

Animals↗