広範囲の神経節細胞欠損
WordNet
- of agriculture; increasing productivity by using large areas with minimal outlay and labor; "producing wheat under extensive conditions"; "agriculture of the extensive type"
- large in spatial extent or range or scope or quantity; "an extensive Roman settlement in northwest England"; "extended farm lands"; "surgeons with extended experience"; "they suffered extensive damage" (同)extended
PrepTutorEJDIC
- (場所などが)広い,広大な / (領域・効果などが)広範囲にわたる;手広い / (量・額・程度・数などが)大きい,膨大な
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English Journal
- Comparative proteomic profiles of the normal and aganglionic hindgut in human Hirschsprung disease.
- Zhang SC1, Chen F2, Jiang KL1, Yuan ZW1, Wang WL1.Author information 1Department of Pediatric Surgery, Major Laboratory of Chinese Health Ministry for Congenital Malformations, Shengjing Hospital of China Medical University, Shenyang, China.2Department of Hematology, Shengjing Hospital of China Medical University, Shenyang, China.AbstractBackground:Hirschsprung disease (HSCR) is the third most common congenital disorder of the gastrointestinal tract. This study aims to elucidate changes in protein expression between the normal and aganglionic hindgut in human HSCR.Methods:The biopsies were obtained from the normal and aganglionic hindgut in human HSCR, and the comparative proteomics were analyzed by mass spectrometry (MS)-based two-dimensional gel electrophoresis (2DE).Results:A total of 932-986 protein spots were identified in each of the gut segments, among which 30 spots had at least an eightfold difference in volume (%). Of the 30 differentially expressed spots, 15 proteins were identified via sequence analysis. Among these 15 proteins, eight were upregulated and seven were downregulated in the aganglionic group. The well-represented classes included biomarkers of enteric ganglions, extracellular matrix proteins, LIM domain proteins, serum proteins, and other pleiotropic proteins. Five proteins were selected and verified by western blotting and real-time PCR, and the results were consistent with the results of 2DE.Conclusion:MS-based 2DE can help to identify pathological relevant proteins in HSCR; it defines an extensive protein catalog of the normal and aganglionic hindgut and may constitute the basis to understand pathophysiological mechanisms related to the HSCR.Pediatric Research (2014); doi:10.1038/pr.2014.33.
- Pediatric research.Pediatr Res.2014 Apr 7. doi: 10.1038/pr.2014.33. [Epub ahead of print]
- Background:Hirschsprung disease (HSCR) is the third most common congenital disorder of the gastrointestinal tract. This study aims to elucidate changes in protein expression between the normal and aganglionic hindgut in human HSCR.Methods:The biopsies were obtained from the normal and aganglionic hi
- PMID 24608570
- Foetal presentation of cartilage hair hypoplasia with extensive granulomatous inflammation.
- Crahes M1, Saugier-Veber P, Patrier S, Aziz M, Pirot N, Brasseur-Daudruy M, Layet V, Frébourg T, Laquerrière A.Author information 1Pathology Laboratory, Rouen University Hospital, France.AbstractCartilage-hair-hypoplasia is a rare autosomal recessive metaphyseal dysplasia due to RMRP (the RNA component of the RNase MRP ribonuclease mitochondrial RNA processing complex) gene mutations. So far, about 100 mutations have been reported in the promoter and the transcribed regions. Clinical characteristics include short-limbed short stature, sparse hair and defective cell-mediated immunity. We report herein the antenatal presentation of a female foetus, in whom CHH was suspected from 23 weeks' gestation, leading to a medical termination of the pregnancy at 34 weeks gestation, and thereafter confirmed by morphological and molecular studies. Post-mortem examination confirmed short stature and limbs, and revealed thymic hypoplasia associated with severe CD4 T-cell immunodeficiency along with extensive non caseating epithelioid granulomas in almost all organs, which to our knowledge has been described only in five cases. Molecular studies evidenced on one allele the most frequently reported founder mutation NR_003051: g.70A>G, which is present in 92% of Finnish patients with Cartilage Hair Hypoplasia. On the second allele, a novel mutation consisting of a 10 nucleotide insertion at position -18 of the promoter region of the RMRP gene (M29916.1:g.726_727insCTCACTACTC) was detected. The founder mutation was inherited from the father, and the novel mutation from the mother. To our knowledge, this case report represents the first detailed foetal analysis described in the literature.
- European journal of medical genetics.Eur J Med Genet.2013 Jul;56(7):365-70. doi: 10.1016/j.ejmg.2013.04.004. Epub 2013 May 2.
- Cartilage-hair-hypoplasia is a rare autosomal recessive metaphyseal dysplasia due to RMRP (the RNA component of the RNase MRP ribonuclease mitochondrial RNA processing complex) gene mutations. So far, about 100 mutations have been reported in the promoter and the transcribed regions. Clinical charac
- PMID 23643676
- The developmental etiology and pathogenesis of Hirschsprung disease.
- Butler Tjaden NE1, Trainor PA.Author information 1Stowers Institute for Medical Research, Kansas City, MO 64110, USA.AbstractThe enteric nervous system is the part of the autonomic nervous system that directly controls the gastrointestinal tract. Derived from a multipotent, migratory cell population called the neural crest, a complete enteric nervous system is necessary for proper gut function. Disorders that arise as a consequence of defective neural crest cell development are termed neurocristopathies. One such disorder is Hirschsprung disease (HSCR), also known as congenital megacolon or intestinal aganglionosis. HSCR occurs in 1/5000 live births and typically presents with the inability to pass meconium, along with abdominal distension and discomfort that usually requires surgical resection of the aganglionic bowel. This disorder is characterized by a congenital absence of neurons in a portion of the intestinal tract, usually the distal colon, because of a disruption of normal neural crest cell migration, proliferation, differentiation, survival, and/or apoptosis. The inheritance of HSCR disease is complex, often non-Mendelian, and characterized by variable penetrance. Extensive research has identified a number of key genes that regulate neural crest cell development in the pathogenesis of HSCR including RET, GDNF, GFRα1, NRTN, EDNRB, ET3, ZFHX1B, PHOX2b, SOX10, and SHH. However, mutations in these genes account for only ∼50% of the known cases of HSCR. Thus, other genetic mutations and combinations of genetic mutations and modifiers likely contribute to the etiology and pathogenesis of HSCR. The aims of this review are to summarize the HSCR phenotype, diagnosis, and treatment options; to discuss the major genetic causes and the mechanisms by which they disrupt normal enteric neural crest cell development; and to explore new pathways that may contribute to HSCR pathogenesis.
- Translational research : the journal of laboratory and clinical medicine.Transl Res.2013 Jul;162(1):1-15. doi: 10.1016/j.trsl.2013.03.001. Epub 2013 Mar 22.
- The enteric nervous system is the part of the autonomic nervous system that directly controls the gastrointestinal tract. Derived from a multipotent, migratory cell population called the neural crest, a complete enteric nervous system is necessary for proper gut function. Disorders that arise as a c
- PMID 23528997
Japanese Journal
- V5-01 Extensive aganglionosisに対するストーマ創を利用した単孔式腹腔鏡補助下根治術の経験(ビデオセッション5 直腸・骨盤)
- P-275 1歳になって診断されたextensive aganglionosisの1例(ポスター 機能的腸閉塞1,Science and Art for Sick Children,第46回日本小児外科学会学術集会)
- 4.Hirschspurung病extensive aganglionosisの1例(一般演題,第1回北部九州山口小児外科研究会)
Related Links
- Extensive Aganglionosis (正常神経節小腸55cm)の1例 : Extensive Aganglionosisに対する治療法の検討 A Case Report of Extensive Aganglionosis ... This report concerns a case of an extensive aganglionosis having only 55cm of ...
- Familial occurrence of Hirschsprung's disease has been frequently documented but that of extensive aganglionosis in which aganglia extends to the midgut or the jejunum is very rare. Only six familial cases have been reported up to ...
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- 広範囲な、広範な(⇔intensive)、大規模な。詳細な。長い。完璧な、徹底的な。(医)拡張性の
- 大量の。大規模な。多数の
- 関
- broad、detail、detailed、extensively、grand、in detail、large scale、large-scale、on a large scale、precise、ubiquitous、ubiquitously、wide、widely、widespread