Autosomal location of genes from the conserved mammalian X in the platypus (<Emphasis Type="Italic">Ornithorhynchus anatinus</Emphasis>): implications for mammalian sex chromosome evolution

Mammalian sex chromosomes evolved from an ancient autosomal pair. Mapping of human X- and Y-borne genes in distantly related mammals and non-mammalian vertebrates has proved valuable to help deduce the evolution of this unique part of the genome. The platypus, a monotreme mammal distantly related to eutherians and marsupials, has an extraordinary sex chromosome system comprising five X and five Y chromosomes that form a translocation chain at male meiosis. The largest X chromosome (X₁), which lies at one end of the chain, has considerable homology to the human X. Using comparative mapping and the emerging chicken database, we demonstrate that part of the therian X chromosome, previously thought to be conserved across all mammals, was lost from the platypus X₁ to an autosome. This region included genes flanking the XIST locus, and also genes with Y-linked homologues that are important to male reproduction in therians. Since these genes lie on the X in marsupials and eutherians, and also on the homologous region of chicken chromosome 4, this represents a loss from the monotreme X rather than an additional evolutionary stratum of the human X.     

mTOR signaling contributes to chondrocyte differentiation.

The mammalian Target Of Rapamycin (mTOR) is a nutrient-sensing protein kinase that regulates numerous cellular processes. Fetal rat metatarsal explants were used as a physiological model to study the effect of mTOR inhibition on chondrogenesis. Insulin significantly enhanced their growth. Rapamycin significantly diminished this response to insulin through a selective effect on the hypertrophic zone. Cell proliferation (bromodeoxyuridine incorporation) was unaffected by rapamycin. Similar observations were made when rapamycin was injected to embryonic day (E) 19 fetal rats in situ. In the ATDC5 chondrogenic cell line, rapamycin inhibited proteoglycan accumulation and collagen X expression. Rapamycin decreased content of Indian Hedgehog (Ihh), a regulator of chondrocyte differentiation. Addition of Ihh to culture medium reversed the effect of rapamycin. We conclude that modulation of mTOR signaling contributes to chondrocyte differentiation, perhaps through its ability to regulate Ihh. Our findings support the hypothesis that nutrients, acting through mTOR, directly influence chondrocyte differentiation and long bone growth.     

选择腰椎椎弓根螺钉长度的放射解剖学研究

目的 :探讨在腰椎侧位片及CT片上推算椎弓根螺钉长度的方法 ,为临床提供参考。方法 :随机在 3 0个腰椎骨标本上用 1mm软钢丝在椎弓根最狭窄处缠绕 ,按人字嵴进钉方法打入椎弓根直钢丝 ,拍正侧位片、横断面片及椎弓根CT扫描 ,分别在标本、CT及侧位片上测量椎弓根螺钉长度 ,三组数据比较。结果 :腰椎侧位片上测量的自关节突关节间隙下缘至椎体前缘距离乘以 0 .83即是螺钉长度 ,椎弓根CT扫描测量其长度更为准确。结论 :正常拍照条件下 ,用腰椎侧位片和椎弓根CT片可准确地推算螺钉长度 ,具有临床实用意义。     

Eosinophilic granuloma of lymph node: case report with cytohistologic, immunohistochemical, and flow cytometric observations

A case study of eosinophilic granuloma (Langerhans cell histiocytosis) of lymph node in a 32-year-old white man is presented. Clinical, cytologic, histologic, immunohistochemical, and flow cytometric findings are reported. Intraoperative cytologic findings can serve as valuable adjuncts to the frozen section, in this case serving as the sole method for diagnosis. This case is presented in light of the rarity of node-based eosinophilic granuloma and the absence of flow cytometric immunophenotypic findings in the literature.     

Allele sharing for schizophrenia and schizo‐affective disorder within a region of Homo sapiens specific XY homology

A case (based upon an association with cerebral asymmetry) has been presented for a gene for psychosis within the Xq21.3/Yp region of homology that is specific to Homo sapiens. We tested this hypothesis using the pentanucleotide marker DXYS 156 that is located within this region. In 84 families affected by schizophrenia or schizo‐affective disorder no tendency toward increased allele sharing amongst siblings was observed (χ² = 0.002). We conclude either that this region does not include a gene predisposing to psychosis or that if it does, the relevant variation is epigenetic rather than sequence‐based. With respect to the latter possibility we draw attention to the recent evolutionary history of the Xq21.3/Yp region. Genes within the region are in transition to protection from X inactivation and therefore may be epigenetically labile. © 2002 Wiley‐Liss, Inc.     

空回肠结肠多发性憩室的临床X线诊断

目的 探索空回肠结肠多发性憩室的临床X线表现,评价消化道造影的诊断价值。方法 对18例患者的临床及X线表现进行了回顾性分析。结果 空肠多发性憩室12例,其中并发十二指肠多发性憩室10例,2例合并回肠多发性憩室。结肠多发性憩室6例,1例并发回肠多发性憩室及结肠癌。结论 空肠多发性憩室多并发于十二指肠多发性憩室,近－中段是好发部位。结肠多发性憩室多见于右半结肠,可有结肠变形。未见独立发生的回肠多发性憩室。钡餐造影能够确诊,小肠灌钡及钡灌肛可提高发现率。