A Case with Partial Long-Arm Deletion of Chromosome11

A boy with terminal deletion of the long arm of chromosome 11 (11 q-) is described. This case is the sixteenth reported case of the 11 q- syndrome in the world and the second reported case in Japan. The 11 q- syndrome is characterized by mental retardation and various dysmorphic signs such as scaphocephaly, ptosis of the upper lids, broad nasal root, and carp mouth¹)?¹²).     

Aging and the myelinated fibers in prefrontal cortex and corpus callosum of the monkey.

In the rhesus monkey, the myelin sheaths of nerve fibers in area 46 of prefrontal cortex and in splenium of the corpus callosum show age-related alterations in their structure. The alterations are of four basic types. Most common is splitting of the dense line of myelin sheaths to accommodate electron dense cytoplasm derived from the oligodendroglia. Less common are splits of the intraperiod line to form balloons or blisters that appear to contain fluid, the occurrence of sheaths with redundant myelin, and thick sheaths that are almost completely split so that one set of compact lamellae is surrounded by another set. But despite these alterations in the sheaths, few nerve fibers show axonal degeneration. To quantify the frequency of the age-related alterations in myelin, transversely sectioned nerve fibers from the splenium of the corpus callosum and from the vertical bundles of nerve fibers within area 46 were examined in electron photomicrographs. The material was taken from 19 monkeys, ranging between 5 and 35 years of age. It was found that the frequency of alterations in myelin sheaths from both locations correlates significantly with age. In area 46, the age-related alterations also significantly correlate (P < 0.001) with an overall assessment of impairment in cognition, i.e., the cognitive impairment index, displayed by individual monkeys. The correlation is also significant when only the old monkeys are considered as a group. A similar result was obtained previously in our examination of the effects of age on the myelin sheaths of nerve fibers in primary visual cortex (Peters et al. [2000] J Comp Neurol. 419:364-376). However, in the corpus callosum the myelin alterations correlate significantly with only one component of the cognitive impairment index, namely the delayed nonmatching to sample task with a 2-minute delay. It is proposed that age-related myelin alterations are ubiquitous and that the correlations between their frequency and impairments in cognition occur because the conduction velocity along the affected nerve fibers is reduced, so that the normal timing sequences within neuronal circuits break down.     

恶性疟原虫杂合45肽抗原基因在减毒鼠伤寒沙门氏菌中的初步表达

将人工合成的恶性疟原虫杂合４５肽基因克隆到表达载体ｐＷＲ４５０－１中，获得了重组质粒ｐＷＲＡ。将ｐＷＲＡ先转化到ＬＢ５０００修饰后，再转化到ＳＬ３２６１，得到重组减毒鼠伤寒沙门氏菌ＳＬ３２６１（ｐＷＲＡ）。ｐＷＲＡ在ＳＬ３２６１中以β－半乳糖膏苷酶－杂合多肽抗原Ａ融合蛋白质（ＧＺ－Ａ）形式表达，表达量约７．２％。从ＳＬ３２６１（ｐＷＲＡ）中纯化的ＧＺ－Ａ可与抗ＧＺ－Ａ抗体反应，滴度为１：３２．Ｗｅｓｔｅｒｎｂｌｏｔ显示在ＧＺ－Ａ相应位置出现特异条带。上述结果初步说明ＳＬ３２６１表达的ＧＺ－Ａ具有抗原性。连续传代ＳＬ３２６１（ｐＷＲＡ）未见质粒丢失及明显的毒性，为恶性疟口服活疫苗的制备打下了基础。     

A high molecular weight chemoattractant generated from C5 by ultracentrifugation of mouse serum without activation of complement

After ultracentrifugation of normal mouse serum, we found chemoattractant activity in the high molecular weight protein region at the bottom of the tube. which was comparable in amount and potency to the attractant in endotoxin-activated serum. This was not a pre-formed attractant, but was generated from serum reactants at least one of which was inactivated by heating at 56 C. Analysis of sera from 10 different mouse strains for hemolytic C5 activity and for capacity to generate chemoattractant on ultracentrifugation showed that the 4 strains without C5 were the only strains that failed to generate the attractant. Thus. the attractant precursor is C5. Since the activity was generated in the presence of 0.01 M EDTA, classical or alternative complement activation was not required. The chemoattractant product had a mol. wt of approximately 170,000; it was therefore not free C5a. These results, and data recently published on digestion of purified human C5 by trypsin. suggest that limited proteolysis of C5 can produce a chemoattractant molecule without release of free C5a.     

The so-called “cloverleaf skull syndrome”

Three cases of cloverleaf skull are reported, one in a newborn with generalized bone changes suggesting thanatophoric dwarfism, one in an infant with acrocephalosyndactyly, and the other in an infant with several features of Crouzon's disease. The relationships between cloverleaf skull, on one side, and thanatophoric dwarfism and the severe craniostenoses, on the other, are discussed. The cloverleaf deformity should be considered a purely morphologic feature in common to several diseases, and should no longer be considered a separate 46p1xj160j0732/xxlarge8220.gif" alt="ldquo" align="MIDDLE" BORDER="0">syndrome46p1xj160j0732/xxlarge8221.gif" alt="rdquo" align="MIDDLE" BORDER="0">.     

Protective effect of membrane cofactor protein against complement-dependent injury

AIM: To evaluate the protective role of membrane cofactor protein (MCP, CD46) on complement-dependent injury. METHODS: MCP was separated by ion exchange chromatography on a DEAE sephadex A-50 column from pig erythrocyte ghosts. Its protective effect was tested in models such as cobra venom factor (CVF)-induced platelet metamorphosis and aggregation, human serum-induced injury in isolated working guinea pig heart and reverse passive Arthus reaction. RESULTS: MCP inhibited CVF-induced platelet metamorphosis with an IC50 of 56.7 mg/L+/-2.6 mg/L, and prevented injury induced by activated complement in isolated working guinea pig hearts. In the rat model of reverse Arthus reaction, MCP relieved the skin lesions induced by immune complexes. CONCLUSION: MCP has a protective effect against complement-dependent injury.     

SRY-negative 46,XX male with normal genitals, complete masculinization and infertility

XX maleness is a rare syndrome with a frequency of 1 in 20,000-25,000 males. XX males exist in different clinical categories with ambiguous genitalia or partially to fully mature male genitalia, in combination with complete or incomplete masculinization. In this study, we report a case of SRY-negative XX male with complete masculinization but infertility. The patient had fully mature male genitalia with descended but small testes and no signs of undervirilization. PCR analysis for SRY, ZFY, Amelogenin, AZFa, AZFb, AZFc genes, a pair of primers from heterochromatic region and six Y-STRs showed the absence of any Y-chromosome-derived material. Absence of SRY gene was confirmed by three independent PCRs for each of two sets of primers covering an increasing length of the gene. Sequence analysis of the coding regions of SOX9 and DAX1 genes did not reveal any mutation. Real-time PCR assay revealed normal copy number for SOX9 gene. Microsatellite analysis showed no evidence of 17q (SOX9 gene) or 22q duplication. Genotyping with X-STRs ruled out the possibility of any deletion on X chromosome. Development of the male phenotype in the absence of SRY probably resulted from the loss of function mutation in some unknown sex-determining gene, which normally inhibits the male pathway, or from a gain of function mutation in a gene downstream to SRY in male pathway.