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Results for “laterality defects”

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At least 109 records · Page 6Linked to original sources
PubMed1995

An abnormal fibrinogen Fukuoka II (Gly-B beta 15-->Cys) characterized by defective fibrin lateral association and mixed disulfide formation.

A dysfibrinogenemia was attributable to a single amino acid substitution from glycine to cysteine at residue 15 of the B beta chain in a fibrinogen molecule designated as fibrinogen Fukuoka II. The fibrinogen Fukuoka II showed prolonged thrombin and reptilase times and impaired fibrinopeptide B release by thrombin, resulting in abolition of fibrin monomer repolymerization under physiological conditions. Repolymerization of the des-(B beta 1-42)-fibrin monomers, however, was not distinguished from the normal pattern of des-(B beta 1-42)-fibrin monomers, suggesting that no other abnormality existed in fibrinogen Fukuoka II. Although an additional cysteine was substituted at residue 15 of the B beta chain, fibrinogen Fukuoka II had no free sulfhydryl group within the molecule. Instead, fibrinogen Fukuoka II formed a disulfide bond with cysteine, albumin, another mutated B beta chain within the same molecule, or intermolecular dimeric fibrinogen Fukuoka II. The mutation in fibrinogen Fukuoka II was the same as that in fibrinogen Ise published previously (Yoshida, N., Wada, H., Morita, K., Hirata, H., Matsuda, M., Yamazumi, K., Asakura, S., and Shirakawa, S. (1991) Blood 77, 1958-1963). Fibrinogen Ise, however, has been described as having prolonged thrombin time but normal reptilase time. Reasons for the discrepancy were not clear. Analysis of the B beta 1-42 fragment showed that fibrinogen was heterogeneous at position 31 of the B beta chain with respect to proline or hydroxyproline.

Amino Acid Sequence↗
PubMed1991

Reconstruction strategy for temporal bone and lateral facial defects.

Large or recurrent tumors of the auricular and parotid areas sometimes require resections involving the temporal bone and adjacent structures, including the facial nerve, the auditory apparatus, ascending ramus of the mandible, and the temporomandibular joint. At times, these resections can include the skull and even the underlying dura. Although these massive resections can provide good palliation and sometimes cure for these advanced patients, incumbent on the strategy for this treatment is a reliable one-stage technique for repair of the resultant defect. We have found the use of free-tissue transfer and the pectoralis muscle flap to be useful in the reconstruction of these defects. The pectoralis muscle flap is used when the defect is at or inferior to the external auditory meatus. More cephalad lesions require free-tissue transfer; for small surface area defects, the free scapular flap has been found to be useful, whereas for larger surface area defects, the free latissimus muscle flap with overlying skin graft has been used with good success. This paper is a report of our experience with this strategy in 14 patients. Our results are discussed and 3 patients are presented.

Adult↗
PubMed1976

Congenital retardation and central motor defect with later evolution of seizure disorder, orofacial dysplasia, and amyotrophy. A clinicopathologic report.

Retarded mental and motor development was observed during the first year of life of a full-term female who had been delivered with difficulty. Generalized psychomotor seizures and dysplastic "acromegalic" facial changes began to develop when she was 8 years old, and generalized amyotrophy developed over the next several years. The course was generally progressive, and she died at age 31. A variety of clinical laboratory studies were nondiagnostic. Autopsy findings showed normal brain weight and normal-appearing cerebral hemispheres, a peculiar atrophy of the inferior portion of the cerebellar hemispheres, a demyelinating process in the dorsal columns of the cervical and thoracic spinal cord, and lateral column and motor neuron degeneration. The pathogenesis of the syndrome is undetermined.

Adult↗