Hereditary spastic paraplegia and Evans's syndrome

Two brothers with hereditary spastic paraplegia and Evans's syndrome are recorded. Rapid deterioration of functional motor ability followed the development of Evans's syndrome.     

Early sequelae of gunshot wounds to the spine: radiologic diagnosis

During a 6-month period, 11 consecutive patients who had delayed neurologic deterioration after sustaining a gunshot wound to the spine were prospectively evaluated clinically, radiologically, and surgically. The patients had dysesthetic burning pain in an anesthetic area, hyperhidrosis, flexor spasm, and additional motor deficit above the level of cord injury 2-22 weeks after injury. Radiologic evaluation consisted of plain radiography of the spine and metrizamide myelography followed by computed tomography. A syringomyelic cavity was found in seven patients, an arachnoid cyst in three, and osteomyelitis in one. Seven of these patients also had cord atrophy. Postoperatively, dysesthetic pain was relieved in all the patients. There was no recurrence during a 2-year follow-up. These results emphasize the need for immediate radiologic investigation in patients with gunshot wounds of the spine who have further deterioration superimposed on their initial deficit.     

The polymorphism of heat shock protein 70 genes in Chinese Han population in Fujian province

Heat shock protein 70 (HSP70) genes are themost important and conserve gene members intheheat shock protein family,and locate in an areaadjacent tothe TNFgenesinthe classⅢregionofmajor histocompatibilitycomplex(MHC) .Its geneproductsHSP70proteins are encoded by 3 differ-ent genes ,HSP70-1,HSP70-2andHSP70-hom.Previous studies showed that three kinds ofpolymorphisms existin3loci of thesethree genes ,i .e .+190 G/CBsrBⅠrestrictionsite onHSP70-1, +1267 A/GPstⅠrestriction site onHSP…     

Molecular mechanisms involved in receptor editing at the Ig heavy chain locus

In receptor editing, a phenomenon that has recently come to light and into favor, a rearranged VDJ or VJ gene segment encoding a variable region of an Ig chain is replaced by another. In this commentary, the molecular mechanisms involved in the editing process are examined in some detail. Editing is most likely mediated by the same V(D)J recombinase activity responsible for the formation of the original VDJ or VJ segment. An embedded heptamer, which is present near the 3' end of many VH elements, is used as the recombination signal sequence at the Ig heavy chain locus. It has been postulated that the mediation of receptor editing is the evolutionary force maintaining the embedded heptamer. Some of the evidence for and against this hypothesis is discussed.      

Expression of lysosomal acid lipase mutants detected in three patients with cholesteryl ester storage disease

Lysosomal acid lipase (LAL) gene mutations were identified in three patients with cholesteryl ester storage disease (CESD). Direct sequencing of genomic DNA revealed that: patient 1 was a compound heterozygote for a P181L mutation and an A to G3' splice site substitution that causes skipping of exon 7, with a loss of 49 amino acids from LAL (delta 205-253); patient 2 was a compound heterozygote for a G66V mutation and a 5' splice site mutation (G to A) that leads to skipping of exon 8 (delta 254-277); and patient 3 was a compound heterozygote for a L273S mutation and an unidentified null allele. Furthermore, patients 2 and 3 showed a novel G-2A polymorphism that could be detected by an Xbal restriction fragment length polymorphism. All these mutants and a previously reported H274Y allele were expressed in vitro in HeLa cells using the vaccinia T7 expression system. The resulting recombinant proteins were inactive towards cholesteryl oleate and trioleylglycerol, demonstrating the direct involvement of these mutations in the pathogenesis of CESD. Immunoblotting of normal LAL expressed in HeLa cells revealed four major molecular forms, at least two of high molecular mass (54 and 50-51 kDa) and two of low molecular mass (42 and 43 kDa). L273S and P181L substitutions and delta 254-277 were shown to result in altered LAL molecular forms, some of which suggest that post-translational processing may interfere with the catalytic activity of LAL.      

Endothelial cell proliferation follows the mid-cycle luteinizing hormone surge, but not human chorionic gonadotrophin rescue, in the human corpus luteum

The corpus luteum is essential for the maintenance of early pregnancy in women. Angiogenesis may be one factor involved in luteal rescue. The aim of this study was to determine the changes in endothelial cell proliferation throughout the luteal phase and in human chorionic gonadotrophin (HCG)-simulated early pregnancy. Human corpora lutea obtained throughout the luteal phase and in simulated early pregnancy were immunostained with antibodies for endothelial and proliferating cells. Number and distribution of endothelial and proliferating cells were examined. Endothelial cells were least abundant in the early luteal phase, increasing in the mid-luteal phase (P < 0.03). Endothelial numbers did not differ significantly between the late and the rescued corpora lutea. Endothelial cell proliferation was greatest in the early luteal phase and continued at a lower level during later stages. Simulated early pregnancy resulted in no change in endothelial cell proliferation. These results showed that a high degree of endothelial cell proliferation is associated with formation of the human corpus luteum. Unchanging levels of proliferation following HCG treatment (for 5-8 days from day 12 to day 16 post-ovulation, at 125 IU to 16,000 IU, following a daily doubling of dose) suggest that alternative processes are involved during luteal rescue.