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Transient myeloproliferative disorder in neonates without Down syndrome: case report and review
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Alexandra Schifferli Johann Hitzler Deborah Bartholdi Karl Heinimann Sylvia Hoeller Tamara Diesch Thomas Kühne 《European journal of haematology》2015,94(5):456-462
Transient myeloproliferative disorder (TMD) is a clonal proliferation of megakaryoblasts, typically occurring in newborns with Down syndrome. It is believed that TMD occurs in the presence of GATA1 mutation together with trisomy 21. However, a limited number of patients with TMD but without Down syndrome have been reported, all with a blast population with numeric or rarely structural chromosome 21 abnormalities. We present the first case of a newborn boy with a TMD without trisomy 21 and without any of the mentioned molecular or cytogenetic abnormalities. This case report suggests that unknown disease mechanisms may provoke or mimic TMD. This case report is followed by a concise review of the literature discussing the different entities and pathomechanisms of TMD and acute megakaryocytic leukaemia in patients with or without Down syndrome. 相似文献
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Amplitude and phase of steady-state signals recorded in response to amplitude-modulated (AM) sine tones vary over time, suggesting that the steady-state response (SSR) reflects not only stimulus input but also its interaction with other input streams or internally generated signals. Alterations of the interaction between simultaneous SSRs associated with tinnitus were studied by recording the magnetic field evoked by AM-tones with one of three carrier and one of three modulation frequencies. Single AM-tones were presented in single presentation mode and superpositions of three AM-tones differing in carrier and modulation frequency in multiple presentation mode. Modulation frequency-specific SSR components were recovered by bandpass filtering. Compared with single mode, in multiple mode SSR amplitude was reduced in healthy controls, but increased in tinnitus patients. Thus, while in controls multiple response components seem to reciprocally inhibit one another, in tinnitus reciprocal facilitation seems to predominate. Reciprocal inhibition was unrelated to the phase coherence among SSR components, but was correlated with the frequency of phase slips, indicating that the lateral interaction among SSR components acts in a quasi-paroxysmal manner and manifests itself in terms of a random train of phase reset events. Phase slips were more frequent in patients than controls both in single and multiple mode. Together, these findings indicate that lateral or surround inhibition of single units in auditory cortex is reduced and suggest that in-field inhibition is increased in tinnitus. 相似文献
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Diesch E Struve M Rupp A Ritter S Hülse M Flor H 《The European journal of neuroscience》2004,19(4):1093-1104
The steady-state auditory evoked magnetic field and the Pbm, the magnetic counterpart of the second frontocentrally positive middle latency component of the transitory auditory evoked potential, were measured in ten tinnitus patients using a 122-channel gradiometer system. The patients had varying degrees of hearing loss. In all patients, the tinnitus frequency was located above the frequency of the audiometric edge, i.e. the location on the frequency axis above which hearing loss increases more rapidly. Stimuli were amplitude-modulated sinusoids with carrier frequencies at the tinnitus frequency, the audiometric edge, two frequencies below the audiometric edge, and two frequencies between the audiometric edge and the tinnitus frequency. Below the audiometric edge, the root-mean-square field amplitude of the steady-state response computed across the whole head as well as the contralateral and the ipsilateral dipole moment decreased as a function of carrier frequency. With carrier frequency above the audiometric edge, the steady-state response increased again. The amplitudes of the transitory Pbm component were patterned in a qualitatively similar way, but without the differences being significant. For the steady-state response, both whole-head root-mean-square field amplitude and the dipole moment of the sources at the tinnitus frequency showed significant positive correlations with subjective ratings of tinnitus intensity and intrusiveness. These correlations remained significant when the influence of hearing loss was partialled out. The observed steady-state response amplitude pattern likely reflects an enhanced state of excitability of the frequency region in primary auditory cortex above the audiometric edge. The relationship of tinnitus to auditory cortex hyperexcitability and its independence of hearing loss is discussed with reference to loss of surround inhibition in and map reorganization of primary auditory cortex. 相似文献
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The auditory-evoked neuromagnetic field elicited by single vowel formants and two-formant vowels was recorded under active listening conditions using a 37-channel magnetometer. There were three single formants with formant frequencies of 200, 400, and 800 Hz, another single formant with a formant frequency of 2600 Hz, and three vowels that were constructed by linear superimposition of the high- onto one of the low-frequency formants. P50 m and N100 m latency values were inversely correlated with the formant frequency of single formants. A strong effect of formant frequency on source location was obtained along the postero-anterior axis, which is orthogonal to the well-established latero-medial tonotopic gradient. Regardless of whether single formants or first formants of vowels were considered, N100 m sources were more anterior and sustained field sources were more posterior for higher-frequency than for lower-frequency formants. The velocity of the apparent posterior-to-anterior movement across cortical surface of N100 m sources first reported by Rogers et al. [Rogers, R. L., Papanicolaou, A. C., Baumann, S. B., Saydjari, C., & Eisenberg, H. M. (1990). Neuromagnetic evidence of a dynamic excitation pattern generating the N100 auditory response. Electroencephalography and Clinical Neurophysiology,77, 237-240] decreased as a function of latency. The amount of deceleration was positively correlated with formant frequency. Responses to the vowels were superadditive, indicating that the processes elicited by the constituents of composite stimuli interact at one or more stages of the afferent auditory pathway. Such interaction may account for the absence of a lateral-to-medial tonotopic mapping of first formant frequency. The source topography found may reflect activity in auditory fields adjacent to AI with the strength of the contribution varying with formant frequency. Alternatively, it may reflect sharpness-of-tuning and inhibitory response-area asymmetry gradients along isofrequency stripes within AI. Either alternative may be interpreted in terms of a spectral blurring mechanism that abstracts spectral envelope information from the details of spectral composition, an important step towards the formation of invariant phonetic percepts. 相似文献
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Elaine Sanij Jeannine Diesch Analia Lesmana Gretchen Poortinga Nadine Hein Grace Lidgerwood Donald P. Cameron Jason Ellul Gregory J. Goodall Lee H. Wong Amardeep S. Dhillon Nourdine Hamdane Lawrence I. Rothblum Richard B. Pearson Izhak Haviv Tom Moss Ross D. Hannan 《Genome research》2015,25(2):201-212