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111.
112.
Keiko Yamamoto‐Shimojima Taichi Imaizumi Hiroyuki Akagawa Hitoshi Kanno Toshiyuki Yamamoto 《American journal of medical genetics. Part A》2020,182(3):521-526
Primrose syndrome is a congenital malformation syndrome characterized by intellectual disability, developmental delay, progressive muscle wasting, and ear lobe calcification. Mutations in the ZBTB20 gene have been established as being accountable for this syndrome. In this study, a novel de novo ZBTB20 mutation, NM_001164342.2:c.1945C>T (p.Leu649Phe), has been identified through whole exome sequencing (WES) in a female patient presenting a typical Primrose phenotype. Because the present patient exhibited recurrent otitis media, detailed immunological examinations were performed in this study and subnormal immunoglobulin levels were firstly identified in a Primrose patient. Anatomical anomaly of the inner ear has never been reported in this patient and WES data did not include any relevant variants causally linked with the immunologic defect. Thus, there is a possibility of a relation between an unclassified immunodeficiency with selective IgG2 deficiency and Primrose syndrome and this may be the reason of recurrent otitis media frequently observed in Primrose patients. Because subnormal levels of IgG2 in this patient might be caused by an unrelated and still uncharacterized genetic cause, further studies are required to prove the causal link between aberrant ZBTB20 function and immunodeficiency. 相似文献
113.
Histological evaluation of medial patellofemoral ligament reconstructed using the Leeds-Keio ligament prosthesis 总被引:1,自引:0,他引:1
In a total of 15 knees from 15 patients undergoing medial patellofemoral ligament reconstruction using an artificial substitute and a medial retinaculum slip coverage for recurrent patellar dislocation, the reconstructed ligaments were histologically evaluated using hematoxilin-eosin and elastic van Gieson stains. The artificial substitute was a mesh-type Leeds-Keio ligament. The mean age of the patients at the time of surgery was 20 years (range; 13-38 years). The mean interval from initial reconstruction to gathering was 53 months (range; 11-109 months). In the tissue over the artificial ligament, longitudinally aligned collagen fiber bundles with spindle-shaped nuclei were formed in all specimens except one specimen of 11 months postsurgery, but it seemed to be mature ligament only in specimens more than 60 months postsurgery. The tissue inside the artificial ligament was immature as a whole in all specimens, although 13 out of the 15 specimens had regularly aligned collagen fiber bundles slightly or in some portions. 相似文献
114.
Cryotherapy may provide a method for the focal destruction of cancerous tissue while preserving most of the surrounding normal tissue. The mechanisms of tissue injury in cryotherapy are 1) intracellular ice formation, 2) dehydration of cells, and 3) stagnation of microcirculation. MR images were superior to CT and ultrasound in monitoring interstitial cryotherapy, because the very short T2 relaxation time of ice affords excellent contrast between the ice and surrounding tissue, allowing an accurate depiction of the entire extent of the iceball. MR imaging demonstrates the iceball as sharply marginated regions of signal loss that expanded and engulfed the renal and hepatic masses with clear contrast between the iceball and surrounding tissue. Recently, a fast Joule-Thomson cryocycling device for MR-compatible cryotherapy application was developed and clinical trials under MRI-guided monitoring were performed in several sites of the body. In our series, cryotherapy was performed in 14 cases of renal tumor and 4 cases of hepatic malignancy under the guidance of a horizontal open MR system. Fourteen of the 18 cases were discharged a day after cryotherapy. One of the residual tumors at the margin of a renal cancer required re-cryoablation. All cryoablated tumors resolved and there were no serious complications and no clinically significant changes-during the follow-up study. 相似文献
115.
We report a case of a 9 month old girl with a de novo interstitial deletion of 1p, karyotype 46,XX, del(1)(pter----p34.1::p32.3----qter). She had dysmorphic features including upward slanting palpebral fissures, a bulbous nose, a long philtrum, low set and malformed ears, a short neck, hypoplastic nails on both index fingers, widened interdigital spaces between the toes, dilated lateral ventricles, right hydronephrosis, a dilated right ureter, mental and motor developmental delay, and generalised hypotonia. 相似文献
116.
117.
Y. Tanaka S. Suguri M. Harada T. Hayabara R. Suzumori N. Ohta 《Parasitology research》1994,80(7):549-553
T-cell responses to pathogenic free-living amoebae,Acanthamoeba sp., were analyzed in healthy Japanese individuals. Of 20 healthy subjects, 10 (50%) showed significant proliferative responses of peripheral blood mononuclear cells to the soluble amoebic antigens in vitro. The antigens used were not mitogenic, and no evidence of amoebic superantigens was available. We established human T-cell clones reactive toAcanthamoeba, all of which were CD3- and CD4-positive, CD8-negative, and TCR--positive. We isolated two strains ofAcanthamoeba from two patients, one from a patient with meningoencephalitis (CSF strain) and the other from a patient with keratitis (K strain). Of 13 clones, 11 were reactive to the K-strain as well as to the CSF-strain antigen under human leukocyte antigen (HLA)-DR restriction, whereas the other two were specific for the K-strain antigen. All but one clone tested showed TH1-equivalent functions because these cells produced interferon (IFN)- in response to the amoebic antigen but produced no detectable level of interleukin 4 (IL-4). These results suggest that immunocompetent hosts might have acquired protective immunity mediated byAcanthamoeba-specific T-cells during natural sensitization. 相似文献
118.
Sotos syndrome and haploinsufficiency of NSD1: clinical features of intragenic mutations and submicroscopic deletions 总被引:2,自引:0,他引:2 下载免费PDF全文
119.
Nascent peptide-mediated translation elongation arrest coupled with mRNA degradation in the CGS1 gene of Arabidopsis 下载免费PDF全文
Onouchi H Nagami Y Haraguchi Y Nakamoto M Nishimura Y Sakurai R Nagao N Kawasaki D Kadokura Y Naito S 《Genes & development》2005,19(15):1799-1810
Expression of the Arabidopsis CGS1 gene that codes for cystathionine gamma-synthase is feedback regulated at the step of mRNA stability in response to S-adenosyl-L-methionine (AdoMet). A short stretch of amino acid sequence, called the MTO1 region, encoded by the first exon of CGS1 itself is involved in this regulation. Here, we demonstrate, using a cell-free system, that AdoMet induces temporal translation elongation arrest at the Ser-94 codon located immediately downstream of the MTO1 region, by analyzing a translation intermediate and performing primer extension inhibition (toeprint) analysis. This translation arrest precedes the formation of a degradation intermediate of CGS1 mRNA, which has its 5' end points near the 5' edge of the stalled ribosome. The position of ribosome stalling also suggests that the MTO1 region in nascent peptide resides in the ribosomal exit tunnel when translation elongation is temporarily arrested. In addition to the MTO1 region amino acid sequence, downstream Trp-93 is also important for the AdoMet-induced translation arrest. This is the first example of nascent peptide-mediated translation elongation arrest coupled with mRNA degradation in eukaryotes. Furthermore, our data suggest that the ribosome stalls at the step of translocation rather than at the step of peptidyl transfer. 相似文献
120.
Yasuhiro Amemiya Masamichi Katayama Susumu Harada 《Macromolecular chemistry and physics.》1977,178(9):2499-2505
Copolymers from 1,6-heptadiene ( 1 ) and SO2 with various mole ratios of their units were prepared. Their structures were studied by elemental analyses, IR and 1H NMR spectroscopy. Structures containing a cyclopentane ring ( 2 ) and such containing a thiane ring ( 3 ) in the main chain are proposed. 相似文献