| 1. |
- Parenti, I., et al.
(författare)
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Expanding the clinical spectrum of the "HDAC8-phenotype - implications for molecular diagnostics, counseling and risk prediction
- 2016
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Ingår i: Clinical Genetics. - : WILEY-BLACKWELL. - 0009-9163 .- 1399-0004. ; 89:5, s. 564-573
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Tidskriftsartikel (refereegranskat)abstract
- Cornelia de Lange syndrome (CdLS) is a clinically heterogeneous disorder characterized by typical facial dysmorphism, cognitive impairment and multiple congenital anomalies. Approximately 75% of patients carry a variant in one of the five cohesin-related genes NIPBL, SMC1A, SMC3, RAD21 and HDAC8. Herein we report on the clinical and molecular characterization of 11 patients carrying 10 distinct variants in HDAC8. Given the high number of variants identified so far, we advise sequencing of HDAC8 as an indispensable part of the routine molecular diagnostic for patients with CdLS or CdLS-overlapping features. The phenotype of our patients is very broad, whereas males tend to be more severely affected than females, who instead often present with less canonical CdLS features. The extensive clinical variability observed in the heterozygous females might be at least partially associated with a completely skewed X-inactivation, observed in seven out of eight female patients. Our cohort also includes two affected siblings whose unaffected mother was found to be mosaic for the causative mutation inherited to both affected children. This further supports the urgent need for an integration of highly sensitive sequencing technology to allow an appropriate molecular diagnostic, genetic counseling and risk prediction.
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| 2. |
- Glavaski-Joksimovic, A., et al.
(författare)
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Morphological differentiation of tau–green fluorescent protein embryonic stem cells into neurons after co-culture with auditory brain stem slices
- 2009
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Ingår i: Neuroscience. - : Elsevier. - 0306-4522 .- 1873-7544. ; 162:2, s. 472-481
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Tidskriftsartikel (refereegranskat)abstract
- Most types of congenital and acquired hearing loss are caused by loss of sensory hair cells in the inner ear and their respective afferent neurons. Replacement of spiral ganglion neurons (SGN) would therefore be one prioritized step in an attempt to restore sensory neuronal hearing loss. To initiate an SGN repair paradigm we previously transplanted embryonic neuronal tissue and stem cells (SC) into the inner ear in vivo. The results illustrated good survival of the implant. One such repair, however, would not have any clinical significance unless central connections from the implanted SIGN could be established. For the purpose of evaluating the effects of cell transplantation on cochlear nucleus (CN) neurons we have established organotypic brain stem (BS) cultures containing the CN. At present we have used in vitro techniques to study the survival and differentiation of tau-green fluorescent protein (GFP) mouse embryonic stem cells (MESC) as a mono- or co-culture with BS slices. For the co-culture, 300 mu m thick auditory BS slices encompassing the CN were prepared from postnatal Sprague-Dawley rats. The slices were propagated using the membrane interface method and the CN neurons labeled with Dil. After 5 +/- 2 days in culture a tau-GFP MESC suspension was deposited next to CN in the BS slice. Following deposition the MESC migrated towards the CN. One and two weeks after transplantation the co-cultures were fixed and immunostained with antibodies raised against neuroprogenitor, neuronal, glial and synaptic vesicle protein markers. Our experiments with the tau-GFP MESC and auditory BS co-cultures show a significant MESC survival but also differentiation into neuronal cells. The findings illustrate the significance of SC and auditory BS co-cultures regarding survival, migration, neuronal differentiation and connections.
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| 3. |
- Ala, Tirdad Seifi, et al.
(författare)
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An exploratory Study of EEG Alpha Oscillation and Pupil Dilation in Hearing-Aid Users During Effortful listening to Continuous Speech
- 2020
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Ingår i: PLOS ONE. - : PUBLIC LIBRARY SCIENCE. - 1932-6203. ; 15:7
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Tidskriftsartikel (refereegranskat)abstract
- Individuals with hearing loss allocate cognitive resources to comprehend noisy speech in everyday life scenarios. Such a scenario could be when they are exposed to ongoing speech and need to sustain their attention for a rather long period of time, which requires listening effort. Two well-established physiological methods that have been found to be sensitive to identify changes in listening effort are pupillometry and electroencephalography (EEG). However, these measurements have been used mainly for momentary, evoked or episodic effort. The aim of this study was to investigate how sustained effort manifests in pupillometry and EEG, using continuous speech with varying signal-to-noise ratio (SNR). Eight hearing-aid users participated in this exploratory study and performed a continuous speech-in-noise task. The speech material consisted of 30-second continuous streams that were presented from loudspeakers to the right and left side of the listener (+/- 30 degrees azimuth) in the presence of 4-talker background noise (+180 degrees azimuth). The participants were instructed to attend either to the right or left speaker and ignore the other in a randomized order with two different SNR conditions: 0 dB and -5 dB (the difference between the target and the competing talker). The effects of SNR on listening effort were explored objectively using pupillometry and EEG. The results showed larger mean pupil dilation and decreased EEG alpha power in the parietal lobe during the more effortful condition. This study demonstrates that both measures are sensitive to changes in SNR during continuous speech.
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| 4. |
- Glazyrin, K., et al.
(författare)
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Sub-micrometer focusing setup for high-pressure crystallography at the Extreme Conditions beamline at PETRA III
- 2022
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Ingår i: Journal of Synchrotron Radiation. - Chichester, United Kingdom : Wiley-Blackwell. - 0909-0495 .- 1600-5775. ; 29, s. 654-663
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Tidskriftsartikel (refereegranskat)abstract
- Scientific tasks aimed at decoding and characterizing complex systems and processes at high pressures set new challenges for modern X-ray diffraction instrumentation in terms of X-ray flux, focal spot size and sample positioning. Presented here are new developments at the Extreme Conditions beamline (P02.2, PETRA III, DESY, Germany) that enable considerable improvements in data collection at very high pressures and small scattering volumes. In particular, the focusing of the X-ray beam to the sub-micrometer level is described, and control of the aberrations of the focusing compound refractive lenses is made possible with the implementation of a correcting phase plate. This device provides a significant enhancement of the signal-to-noise ratio by conditioning the beam shape profile at the focal spot. A new sample alignment system with a small sphere of confusion enables single-crystal data collection from grains of micrometer to sub-micrometer dimensions subjected to pressures as high as 200 GPa. The combination of the technical development of the optical path and the sample alignment system contributes to research and gives benefits on various levels, including rapid and accurate diffraction mapping of samples with sub-micrometer resolution at multimegabar pressures.
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| 5. |
- Sun, Dali, et al.
(författare)
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Multi-Robot Range-Only SLAM by Active Sensor Nodes for Urban Search and Rescue
- 2009
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Ingår i: <em>Robocup 2008: Robot Soccer World Cup XII</em>. ; , s. 318-330
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Konferensbidrag (refereegranskat)abstract
- To jointly map an unknown environment with a team of autonomous robots is a challenging problem, particularly in large environments, as for example the devastated area after a disaster. Under such conditions standard methods for Simultaneous Localization And Mapping (SLAM) are difficult to apply due to possible misinterpretations of sensor data, leading to erroneous data association for loop closure. We consider the problem of multi-robot range-only SLAM for robot teams by solving the data association problem with wireless sensor nodes that we designed for this purpose. The memory of these nodes is utilized for the exchange of map data between multiple robots, facilitating loop-closures on jointly generated maps. We introduce RSLAM, which is a variant of FastSlam, extended for range-only measurements and the multi-robot case. Maps are generated from robot odometry and range estimates, which are computed from the RSSI (Received Signal Strength Indication). The proposed method has been extensively tested in USARSim, which serves as basis for the Virtual Robots competition at RoboCup, and by real-world experiments with a team of mobile robots. The presented results indicates that the approach is capable of building consistent maps in presence of real sensor noise, as well as to improve mapping results of multiple robots by data sharing.
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