Junctional epidermolysis bullosa

“Vlinderkinderen” worden ze genoemd, de patiëntjes met epidermolysis bullosa (EB) met een huid zo teer als de vleugels van een vlinder. Er worden zo’n 25 typen EB onderscheiden, waarvan de oorzaak in één van de 15 betrokken genen kan liggen. Junctionele epidermolysis bullosa (JEB) is een EB type met splijting door de junctionele laag tussen opperhuid en lederhuid. De adhesie-eiwitten in de junctionele laag zijn hierbij gestoord of afwezig. In het subtype JEB, type Herlitz (JEB-H) ontbreekt laminine-332 totaal. Kinderen met JEB-H groeien niet, krijgen overal pijnlijke wonden op de huid en in de keel. De aandoening gaat gepaard met uitzichtloos, ondraaglijk lijden en is fataal binnen de eerste 3 levensjaren. Tussen 1988 tot 2011 zijn 22 kinderen met JEB-H begeleid door het Centrum voor Blaarziekten in het UMCG. In het proefschrift worden de diagnostische kenmerken en de lange termijn follow-up van deze patiënten beschreven. Ook werden de ouders geïnterviewd die een kind hadden verloren door EB; waarop wij richtlijnen baseerden voor de begeleiding van ouders die zoiets nog moeten doorstaan. Bij één van de kinderen vroegen de ouders om euthanasie, hetgeen volgens het Groningen protocol werd uitgevoerd. Een ander deel van het proefschrift richt zich op het minder ernstige subtype JEB, type non-Herlitz (JEB-nH), waarbij patiënten wel kunnen overleven tot de volwassen leeftijd. We tonen aan dat volwassen JEB-nH patiënten al op vroege leeftijd een verhoogd risico (25%) hebben op het ontwikkelen van een agressief plaveiselcelcarcinoom, dat in 20% van de patiënten uitzaait. Een andere studie beschrijft dat biopttransplantaties, waarbij kleine huidtransplantaten in chronische wonden worden geplaatst om de wondgenezing te bevorderen, een makkelijke en effectieve behandeling is voor JEB-nH patiënten. Verder tonen we aan dat JEB of late onset veroorzaakt wordt door mutaties in het gen COL17A1.

粵東閩語合口介音的保留及其與相鄰方言點的比較

過往一直有不少音韻研究指出合口介音的消失是漢語方言發展的普遍現象，屬東南方言的閩語亦是其中一例，可惜閩系方言的開合口演變情況鮮為人所提及。本文把前人探討北方方言合口音消失的調查方法用到閩語裡，比較閩方言中不同分支對合口音的保留情況。閩語主要可分為四個支流，是為閩東、閩北、閩南以及粵東閩語。本文在各個分支中選取了代表地區，前三個分支的代表方言點分別為建甌、福州和廈門。而由於粵東閩語的內部差異是本文的討論重點，故是次調查共選取了三個在今音上有口音差異的地區以便比較分析，這些地區為汕頭、揭陽、潮陽和海豐。漢語方言合口音消失較多表現在的果攝、蟹攝、止攝、山攝、臻攝、宕攝和曾攝，本文從當中的六攝中選取了合共十個韻部中的例字，對閩東、閩北及閩南的代表地區今音做了例字記音表，並比較分析記音結果。記音結果發現，閩東地區對合口音的保留較其他地區的閩語齊全。此外，我們從是次記音亦看見一些閩方言的語音特色。 又，粵東閩語的韻母存在很多的內部差異，當中包括了數個合口介音的韻母。本文將分析及闡述這些合口韻的在韻腹及韻尾的差異，嘗試探討粵東閩語的存古情況

Inscription and characterization of fiber Bragg gratings in multi-mode As2S3 optical fiber at 1550nm using interferometric and phase mask methods

Fiber Bragg gratings (FBGs) in optical fibers are quickly growing in appeal and are being considered by researchers for use as mechanical and chemical sensors in fiber reinforced composite airframes to provide inexpensive, high sensitivity and high density sensor coverage. Such FBG detection systems offer the advantages of being rapid, sensitive, radiation-hard and low density. To date, typical silica-glass optical fibers have been studied. However, the ultimate sensitivity of FBGs in silica fiber is limited by the relatively low photosensitivity of silica glass which leads to low reflectivities of the FBGs. In this project, advantage is taken of the significantly higher photosensitivity of chalcogenide glasses, glasses based upon the chalcogenide elements, S, Se, and Te to inscript FBGs in selected chalcogenide optical fibers, specifically As2S3. Time stability, power level dependence, and temperature dependence were measured for the FBGs written in multi-mode As2S3 optical fiber;FBGs were inscripted in multi-mode arsenic sulfide (As2S 3) glass fibers at 1550 nm by He-Ne laser irradiation using the interferometric and phase mask techniques. In the set up, a broadband light source centered at 1550 nm with a bandwidth of 100nm at half intensity (Agilent Broadband light source 83437A) and an OSA (Agilent HP86412B) were used to analyze the inscribed FBGs and the reflectivity around 1550 nm;Multiple transmission dips were obtained from the FBGs writing experiment using both the interferometric and phase mask techniques that were caused by same mode reflection and neighboring mode coupling. Using the interferrometric method, we obtained FBGs with maximum reflectivity 46.6% at 1526.6 nm. The average effective index change in the glass caused by the He-Ne laser irradiation inducing the FBGs is estimated to be +0.000482. Using a 0/-1 order phase mask, we obtained FBGs of maximum reflectivity 61.9% at 1548.8 nm and the average effective index change is estimated to be +0.000491

Digital Twin for Real-time Li-ion Battery State of Health Estimation with Partially Discharged Cycling Data

To meet the fairly high safety and reliability requirements in practice, the state of health (SOH) estimation of Lithium-ion batteries (LIBs), which has a close relationship with the degradation performance, has been extensively studied with the widespread applications of various electronics. The conventional SOH estimation approaches with digital twin are end-of-cycle estimation that require the completion of a full charge/discharge cycle to observe the maximum available capacity. However, under dynamic operating conditions with partially discharged data, it is impossible to sense accurate real-time SOH estimation for LIBs. To bridge this research gap, we put forward a digital twin framework to gain the capability of sensing the battery's SOH on the fly, updating the physical battery model. The proposed digital twin solution consists of three core components to enable real-time SOH estimation without requiring a complete discharge. First, to handle the variable training cycling data, the energy discrepancy-aware cycling synchronization is proposed to align cycling data with guaranteeing the same data structure. Second, to explore the temporal importance of different training sampling times, a time-attention SOH estimation model is developed with data encoding to capture the degradation behavior over cycles, excluding adverse influences of unimportant samples. Finally, for online implementation, a similarity analysis-based data reconstruction has been put forward to provide real-time SOH estimation without requiring a full discharge cycle. Through a series of results conducted on a widely used benchmark, the proposed method yields the real-time SOH estimation with errors less than 1% for most sampling times in ongoing cycles.Comment: This paper has been accepted for IEEE Transactions on Industrial Informatic

Diagnosis of 3D magnetic field and modes composition in MHD turbulence with Y-parameter

Magnetic fields are crucial in numerous astrophysical processes within the interstellar medium. However, the detailed determination of magnetic field geometry is notoriously challenging. Based on the modern magnetohydrodynamic (MHD) turbulence theory, we introduce a novel statistical technique, the "Y-parameter", to decipher the magnetic field inclination in the ISM and identify dominant turbulence modes. The Y-parameter, calculated as the ratio of anisotropies of different Stokes parameter combinations, displays contrasting trends with the mean-field inclination angle in Alfv\'enic and compressible turbulence modes. A Y-parameter value around $1.5\pm0.5$ provide a statistical boundary to determine the dominant MHD turbulence modes. We have discovered specific correlations between the Y-parameter value and the inclination angle that unveil the dominant turbulence mode. This methodology, when applied to future radio polarisation surveys such as LOFAR and SKA, promises to significantly enhance our knowledge of 3D magnetic field in the ISM and improve our understanding of interstellar turbulence.Comment: 13 pages, 10 figures, 1 table, Accepted for publication in MNRA

Temporal Properties of the Compressible Magnetohydrodynamic Turbulence

The temporal property of the compressible magneto-hydrodynamic (MHD) turbulence remains a fundamental unsolved question. Recent studies based on the spatial-temporal analysis in the global frame of reference suggest that the majority of fluctuation power in turbulence does not follow any of the MHD wave dispersion relations but has very low temporal frequency with finite wavenumbers. Here, we demonstrate that the Lorentzian broadening of the dispersion relations of the three MHD modes where the nonlinear effects act like the damping of a harmonic oscillator can explain many salient features of frequency spectra for all MHD modes. The low frequency fluctuations are dominated by modes with the low parallel wavenumbers that have been broadened by the nonlinear processes. The Lorentzian broadening widths of the three MHD modes exhibit scaling relations to the global frame wavenumbers and are intrinsically related to energy cascade of each mode. Our results provide a new window to investigate the temporal properties of turbulence which offers insights for building a comprehensive understanding of the compressible MHD turbulence.Comment: 15 pages, 4 figures, submitte