PubMed Health⌕ Search

Biomedical subjects

M W Tullous

Publications and source records attributed to M W Tullous.

4 recordsLinked to original sources

Multiple-revolution spiral osteotomy for cranial reconstruction. Technical note.

Various combinations of cranial remodeling techniques are used in an attempt to provide optimal cosmetic results and to reduce possible sequelae associated with craniosynostosis. One element of deformity that is difficult to correct directly is an overly flattened area such as that found in the parietal area in sagittal synostosis, unilaterally in lambdoid synostosis, or even in severe positional molding. The authors present a novel application for recontouring cranial bone, namely the multiple-revolution spiral osteotomy. The advantages of this technique include the avoidance of large areas of craniectomy and immediate correction of the cranial deformity. The surgical procedure, illustrative cases, early results, and apparent benefits of this technique are discussed.

Craniosynostoses↗

An unusual case of the complete Currarino triad: case report, discussion of the literature and the embryogenic implications.

OBJECTIVE AND IMPORTANCE: We present and illustrate an unusual case of the complete familial Currarino triad (an association between a bony sacral defect, a presacral mass, and an anorectal malformation) in which the teratoma arose from the conus medullaris and contained mature neurons, glia, and branching ependymal canals that were in communication with a terminal syrinx. The embryogenic implications are discussed. CLINICAL PRESENTATION: The patient was a term neonate when discovered to have imperforate anus. Further workup revealed lumbosacral dysraphism with a presacral mass, a rectovaginal fistula, and a single pelvic kidney. The family pedigree revealed a familial transmission pattern; the patient had a second cousin with anal atresia and a first cousin with similar sacral anomalies. The motor level was L4 with trace L5, and there was absent sensation in the sacral dermatomes. INTERVENTION: A diverting colostomy was performed on Day 14, and the infant returned at 3 months of age to undergo near-total resection through the previous abdominal approach. Only a subtotal resection was possible because the mass arose from the low-lying conus and was firmly adherent to the sacral nerve roots and iliac vessel. Follow-up magnetic resonance imaging performed 18 months after surgery revealed that the residual tumor had not progressed. CONCLUSION: Complete Currarino triad is rare and is familial in half of the cases. The special features of the tumor in our case were the presence of mature neurons with ependymal canals and its origin from the conus. The possible embryogenesis may provide evidence that the caudal notochord is important for organized secondary neurulation.

Abnormalities, Multiple↗

p53 mutation and loss of heterozygosity on chromosomes 17 and 10 during human astrocytoma progression.

The human brain tumor, astrocytoma, typically progresses through three histopathologically defined stages with the passage of time: one premalignant stage, low-grade astrocytoma; and two malignant stages, anaplastic astrocytoma and glioblastoma multiforme. We correlated the results of a sequence analysis of the tumor suppressor gene, p53, and a restriction fragment length polymorphism analysis of chromosomes 17 and 10 in 45 patients with cerebral astrocytomas at different stages. To detect p53 mutations in tumor DNA, we analyzed polymerase chain reaction products corresponding to every p53-coding exon for single-strand conformation polymorphisms and confirmed the mutations by sequencing. Loss of heterozygosity (LOH) was determined by Southern transfer analysis of somatic and tumor DNA from these same patients using polymorphic markers for various loci on chromosomes 10 and 17. p53 mutations were found in 7 of 25 glioblastomas (28%), in 5 of 14 anaplastic astrocytomas (36%) but in 0 of 6 low-grade astrocytomas. p53 mutations were found in 62% of patients with LOH on chromosome 17p. These results indicated that p53 inactivation is a common genetic event in astrocytoma progression that may signal the transition from benign to malignant tumor stages. LOH on chromosome 10 was found in 61% of glioblastomas, in 23% of anaplastic astrocytomas, but in 0% of low-grade astrocytomas. LOH on chromosome 10 and p53 mutation were found together only in patients with glioblastoma multiforme (22%), suggesting that these genetic changes may accumulate during astrocytoma progression.

Amino Acid Sequence↗

Cauda equina syndrome of long-standing ankylosing spondylitis. Case report and review of the literature.

Cauda equina syndrome as a neurological complication of long-standing ankylosing spondylitis was first reported in 1961. The syndrome is relatively uncommon and its pathophysiology is still poorly understood. Based on their experience with such a case, the authors review the clinical, electrographic, histological, and radiographic features of the syndrome, including the findings of magnetic resonance (MR) imaging. The addition of MR imaging to the evaluation of patients with ankylosing spondylitis and the cauda equina syndrome not only aids in the diagnosis of the syndrome but may also provide valuable insight into the pathophysiology of this condition.

Cauda Equina↗