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  • Analytical Chemistry and Spectroscopy  (1)
  • Arthrogryposis multiplex congenita  (1)
  • Beckwith-Wiedemann syndrome  (1)
  • 1
    ISSN: 1435-232X
    Keywords: Beckwith-Wiedemann syndrome ; rhabdomyosarcoma ; renal cell carcinoma ; insulin-like growth factor II gene ; loss of heterozygosity ; loss of imprinting
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary We described a patient with Beckwith-Wiedemann syndrome associated with rhabdomyosarcoma (RMS), and renal cell carcinoma (RCC). Karyotypes of peripheral lymphocytes and RMS cells were normal. DNA analyses showed maternal loss of heterozygosity (LOH) at 11p15 region in RMS but not in RCC. The insulin-like growth factor II gene (IGF2) was found to be expressed at a moderate level in RMS but not in RCC byin situ hybridization. Each of parental allele-derivedIGF2 transcript was detected in RCC, while maternal allele-derived transcript was weak in RMS because of maternal LOH. These results suggest that (1) loss of imprinting (LOI) ofIGF2 might be responsible for BWS, (2) on the other hand, LOI itself might not induce tumor occurrence in tissues where the control of tissue-specific expression ofIGF2 is maintained, (3) increased expression ofIGF2 due to maternal loss of a putative controller gene forIGF2 at 11p15 might predispose to sustaining tumorigenic mutations and tumor progression, (4) loss of a putative onco-suppressor gene at 11p15 might induce RMS occurrence. The cause of RCC was thought to be different from that of RMS.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1435-232X
    Keywords: Key words Moebius syndrome ; Calcification ; Arthrogryposis multiplex congenita ; Blood supply disturbance
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract We report the case of a Japanese girl with a severe type of Moebius syndrome. Her morphological features were a mask-like face, limitation of horizontal eye movements, severe bulbar palsy, multiple and bilateral arthrogryposis including the elbow, knee, and ankle joints, and clubfeet. After birth, her general condition became worse because of repeated apneic spells and aspiration pneumonias due to dysphagia. She finally required tracheotomy. Computed tomography (CT) of the brain revealed minute calcifications on the fourth ventricle floor; this may have been due to severe damage to the brain stem. It is most likely that the various manifestations in our patient were due to disturbance of the blood supply to arteries perfusing the brain stem and to some other arteries, at a critical stage of fetal development.
    Type of Medium: Electronic Resource
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  • 3
    Electronic Resource
    Electronic Resource
    Chichester [u.a.] : Wiley-Blackwell
    Journal of Raman Spectroscopy 7 (1978), S. 282-287 
    ISSN: 0377-0486
    Keywords: Chemistry ; Analytical Chemistry and Spectroscopy
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Chemistry and Pharmacology , Physics
    Notes: The Raman spectrum of tryptophan has been observed in its neutral aqueous solution with 514.5, 488.0, 457.9, 363.8, and 257.3 nm excitation. The effects of N-deuteration and 15N-substitution of the indole ring on the Raman spectrum have been examined. A preliminary normal coordinate treatment of the indole ring has also been made. On the basis of these data, the vibrational mode and a possible origin of the Raman scattering intensity has been discussed for each of the 1623, 1555, 1436, 1344, 1016, 882, and 762 cm-1 Raman lines of tryptophan. The resonance enhanced line at 1623 cm-1 has been assigned to a vibration of the indole ring which is related to the b3g ring stretching vibration of naphthalene at 1636 cm-1. Its intensity is considered to come almost solely from the B̃ ← X̃ (La) electronic transition at 273 nm. It is therefore probable that the geometrical structure of the molecule is distorted along this vibrational coordinate on going from the ground (X̃) to the B̃ electronic excited state.
    Additional Material: 10 Ill.
    Type of Medium: Electronic Resource
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