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Three patients who had complete agenesis and two patients who had partial agenesis of the corpus callosum (ACC) underwent magnetic resonance (MR) imaging. In addition to excellent visualization of the indirect signs of ACC, direct vivid display (short T1) of the corpus callosum on sagittal images allowed better evaluation of subtle abnormalities than has been possible with other modalities. Associated abnormalities were also well-displayed. MR is the initial procedure of choice in evaluation of the corpus callosum. 相似文献
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Pathophysiological mechanisms of dominant and recessive KVLQT1 K+ channel mutations found in inherited cardiac arrhythmias 总被引:9,自引:0,他引:9
Wollnik B; Schroeder BC; Kubisch C; Esperer HD; Wieacker P; Jentsch TJ 《Human molecular genetics》1997,6(11):1943-1949
The inherited long QT syndrome (LQTS), characterized by a prolonged QT
interval in the electrocardiogram and cardiac arrhythmia, is caused by
mutations in at least four different genes, three of which have been
identified and encode cardiac ion channels. The most common form of LQTS is
due to mutations in the potassium channel gene KVLQT1, but their effects on
associated currents are still unknown. Different mutations in KVLQT1 cause
the dominant Romano-Ward (RW) syndrome and the recessive Jervell and
Lange-Nielsen (JLN) syndrome, which, in addition to cardiac abnormalities,
includes congenital deafness. Co- expression of KvLQT1 with the IsK protein
elicits slowly activating potassium currents resembling the cardiac Iks
current. We now show that IsK not only changes the kinetics of KvLQT1
currents, but also its ion selectivity. Several mutations found in RW,
including a novel mutation (D222N) in the putative channel pore, abolish
channel activity and reduce the activity of wild-type KvLQT1 by a
dominant-negative mechanism. By contrast, a JLN mutation truncating the
carboxyterminus of the KvLQT1 channel protein abolishes channel function
without having a dominant-negative effect. This fully explains the
different patterns of inheritance. Further, we identified a novel splice
variant of the KVLQT1 gene, but could not achieve functional expression of
this nor of a previously described heart-specific isoform.
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Tomohisa Okada Thai Akasaka Dinh HD Thuy Tadashi Isa 《Magnetic resonance in medical sciences》2022,21(4):531
After introduction of the first human 7 tesla (7T) system in 1999, 7T MR systems have been employed as one of the most advanced platforms for human MR research for more than 20 years. Currently, two 7T MR models are approved for clinical use in the U.S.A. The approval facilitated introduction of the 7T system, summing up to around 100 worldwide. The approval in Japan is much awaited. As a clinical MR scanner, the 7T MR system is drawing attention in terms of safety.Several large-sized studies on bioeffects have been reported for vertigo, dizziness, motion disturbances, nausea, and others. Such effects might also be found in MR workers and researchers. Frequency and severity of reported bioeffects will be presented and discussed, including their variances. The high resonance frequency and shorter RF wavelength of 7T increase the concern about the safety. Homogeneous RF pulse excitation is difficult even for the brain, and a multi-channel parallel transmit (pTx) system is considered mandatory. However, pTx may create a hot spot, which makes the estimation of specific absorption rate (SAR) to be difficult. The stronger magnetic field of 7T causes a large force of displacement and heating on metallic implants or devices, and the scan of patients with them should not be conducted at 7T. However, there are some opinions that such patients might be scanned even at 7T, if certain criteria are met. This article provides a brief review on the effect of the static magnetic field on humans (MR subjects, workers, and researchers) and neurons, in addition to scan sound, SAR, and metal implants and devices. Understanding and avoiding adverse effects will contribute to the reduction in safety risks and the prevention of incidents. 相似文献
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