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The etiology of hereditary ataxia syndromes is heterogeneous, and the mechanisms underlying these disorders are often unknown. Here, we utilized exome sequencing in two siblings with progressive ataxia and muscular weakness and identified a novel homozygous splice mutation (c.3020-1G > A) in neurofascin (NFASC). In RNA extracted from fibroblasts, we showed that the mutation resulted in inframe ski
Extracorporeal photopheresis (ECP) is one of the most used and established therapies for steroid-refractory graft-vs-host disease (GvHD), with a good effect to side effect profile. In this review, we present a summary of present literature and provide evidence-based treatment guidelines for ECP in GvHD. The guidelines constitute a consensus statement formed by the Nordic ECP Quality Group represen
Background: Omission of breakfast results in higher glucose and lower insulin and incretin hormone levels after both lunch and dinner. Whether omission of lunch has a similar impact on the following meal is not known. Aim: This study therefore explored whether omission of lunch ingestion affects glucose, islet and incretin hormones after dinner ingestion in healthy subjects. Materials & Method
Ray-Triangle intersection is a fundamental computation in most ray tracing algorithms. The prohibitive cost of the ray-triangle test algorithms, however, limits the utilization of these algorithms in settings with low power budgets, such as mobile systems. In this work, we analyze the precision requirements for ray-triangle intersection and observe that for most of the rays a low-precision is suff
Purpose: To report a severe phenotype of retinitis pigmentosa associated with novel mutations in CNGB1. Observations: Six siblings, age range 50–75 years old, were examined using optical coherence tomography and fundus autofluorescene, electroretinogram testing, Goldman visual field testing, and genetic testing using next generation sequencing. In four affected siblings, two novel compound heteroz
ZHRC and RWI Hold Validation Workshop to Advance Development of Enhanced Case Management System for ZHRC - The Raoul Wallenberg Institute of Human Rights and Humanitarian Law Skip to content Search for: Search Button Home About Us Who We Are Our History About Raoul Wallenberg Our Theory of Change Staff Opportunities Annual Reports Whistleblower Our work What we do Multi-Disciplinary Research Highe
Lund University’s Instructions for Applications Page 1 of 33 Admissions Board Student Affairs DECISION Reg. No. STYR 2023/1470 Date 5 September 2024 Lund University’s Instructions for Applications Contents How to apply .............................................................................................. 3 If you are applying for the first time .............................................
Aim: Acute otitis media (AOM) is a common childhood disease, which often becomes recurrent (rAOM). A small reduction of AOM episodes has been noted in unselected child cohorts after vaccination with heptavalent conjugate pneumococcal vaccine (PCV7). The purpose of this study was to investigate how vaccination affects young children at risk of developing rAOM. Methods: Ninety-six children with an A
Endometrial stromal sarcomas (ESS) are rare malignancies, accounting for less than 10% of uterine sarcomas. Apart from the chromosomal rearrangement t(7;17)(p15;q21), which leads to the JAZF1/SUZ12 chimera, cytogenetic studies have shown that the chromosome band 6p21 is often rearranged in ESS. The translocation partners involved in the 6p21 rearrangements differ among the tumors, but chromosome 7
Microbial bio-aroma synthesized from biowaste, and its marketing is an emerging aspect of future research due to their benefits. However, the sensory lexicon of bio-aroma has not yet been developed so far. This study aims to identify the smell characteristics of bio-aroma produced by fermentative yeast Kluyveromyces marxianus by solid-state fermentation, where the sample was extracted from ferment
The aim of the European project MASTER (MAnaging Speeds of Traffic on European Roads) is to produce information that can be cited in the preparation of national and EU decisions concerning speed management and standards for speed control equipment. For this purpose, the project seeks answers to three key questions:1) What are acceptable ranges of speeds?2) What are the key factors influencing dri
Abstract Background Gender specific outcome for children with anorectal malformations (ARM) is rarely reported although it is important for medical care and in parent counseling. Purpose To assess bowel function according to the Krickenbeck system in relation to ARM-subtype, gender and age. Method All children born with ARM in 1998–2008 and referred to two centers in two different countries wer
Brevmall Postal address Sölvegatan 35, SE_223 62 Lund, Sweden Telephone +46 46 222 0124 E-mail jep.agrell@biol.lu.se Biologiska Institutionen Grundutbildningsnämnden Fa s ts tä l l t 2 0 2 0 -0 9 -1 7 Har du problem med eller synpunkter på din utbildning? Har du stött på problem under din utbildning eller har synpunkter som du vill framföra? Det finns det olika instanser som du kan vända dig till.
25.p65 1Discussion of some Legal Issues Raised by the Introduction of the Euro Discussion of Some Legal Issues Raised by the Introduction of the Euro Cécile Brokelind cecile.brokelind@busilaw.lu.se 2 CFE Working paper series no. 25 CENTRE FOR EUROPEAN STUDIES AT LUND UNIVERSITY: Box 52 Phone: +46 (0)46-222 88 99 SE-221 00 LUND Fax: +46 (0)46-222 40 06 Sweden Email: cfe@cfe.lu.se CFE Working paper
https://www.cfe.lu.se/en/sites/cfe.lu.se.en/files/2020-12/cfewp25.pdf - 2026-07-13
Brevmall http://www.soc.lu.se Department of Socio logy A. Reading course in “Endings – how things fall apart” (PhD level) A third level (PhD) “reading course” does not involve any teaching and typically only has one or a few participants taking part in the course. A reading course for 7,5 credits should cover an ambitious and demanding reading material, which exact page number can vary depending o
https://www.soc.lu.se/en/sites/soc.lu.se.en/files/2023-12/Endings_ReadingCourse.pdf - 2026-07-13
Climate Adaptation, Risk Reduction and Empowerment Funding organisationsLund University Centre of Excellence for Integration of Social and Natural Dimensions of Sustainability (LUCID)The Swedish Research Council FormasSwedish Environmental Protection AgencyTimelineSince 2015ParticipantsChad BodaChristine WamslerDavid O’Byrne,Ebba BrinkStephen WoronieckiDescriptionCoastal cities are increasingly e
https://www.lucsus.lu.se/sustainable-coastal-planning-and-management - 2026-07-13
