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Background: The purpose of this project was to develop a telemedicine platform that supports home site monitoring and integrates biochemical, physiological, and dietary parameters for individual patients with hepatic glycogen storage disease (GSD). Methods and results: The GSD communication platform (GCP) was designed with input from software developers, GSD patients, researchers, and healthcare p
Background: Niemann-Pick type C (NP-C) is a rare autosomal recessive progressive neurodegenerative disorder caused by mutations in the NP-C 1 or 2 gene. Besides visceral symptoms, presentation in adolescent and adult onset variants is often with neurological symptoms. The most frequently reported presenting symptoms of NP-C in adulthood are psychiatric symptoms (38 %), cognitive decline (23 %) and
Background: Ramsay Hunt syndrome (progressive myoclonus ataxia) is a descriptive diagnosis characterized by myoclonus, ataxia, and infrequent seizures. Often the etiology cannot be determined. Recently, a mutation in the GOSR2 gene (c.430G>T, p.Gly144Trp) was reported in 6 patients with childhood-onset progressive ataxia and myoclonus. Methods: We evaluated 5 patients with cortical myoclonus, atax
Background: Analysis of sialic acid (SA) metabolites in cerebrospinal fluid (CSF) is important for clinical diagnosis. In the present study, a high-performance liquid chromatography-tandem mass spectrometry (HPLC/MS/MS) method for free sialic acid (FSA) and total sialic acid (TSA) in human CSF was validated. Methods: The method utilized a simple sample-preparation procedure of protein precipitatio
Congenital hepatic fibrosis is a rare disorder of intrahepatic bile ducts with the persistence of embryological bile duct structures in ductal plate configuration. Three siblings aged 18, 17 and 14 years old were found to have congenital hepatic fibrosis associated with a deficiency of the enzyme phosphomannose isomerase. The clinical symptoms were recurrent attacks of persistent vomiting with dia
By using a combination of experimental neutron scattering techniques, it is possible to obtain a statistical perspective on red blood cell (RBC) shape in suspensions, and the inter-relationship with protein interactions and dynamics inside the confinement of the cell membrane. In this study, we examined the ultrastructure of RBC and protein-protein interactions of haemoglobin (Hb) in them using ul
Herein is described the switchable fluorescence response of poly(methyl methacrylate) (PMMA) brushes. Chain end fluorescein labeled PMMA brushes are prepared by combining surface-initiated atom transfer radical polymerization (SI-ATRP) with a copper-catalyzed alkyne-azide cycloaddition (CuAAC) click reaction. Successful attachment of fluorescein is confirmed by measuring fluorescence of the as-pre
OBJECTIVE: The aim of the present study was to investigate the association of the redox state via malondialdehyde (MDA) as a lipid peroxidation biomarker and hydrophilic antioxidant capacity (HAC) with dietary, anthropometric, demographic, socio-economic and clinical variables as well as the serum concentrations of vitamins in children aged 20-36 months. This cross-sectional study was conducted fr
The populist turn in national and international politics includes one common question across countries: curbing immigration and limiting the rights of migrants. In the light of these restrictive tendencies, the questions that this article seeks to address are: whether and how the European Convention on Human Rights (ECHR), as interpreted by the European Court of Human Rights (ECtHR), can be a poin
Background: Practice guidelines for childhood posttraumatic stress disorder (PTSD) recommend trauma-focused psychotherapies, mainly cognitive behavioral therapy (CBT). Eye movement desensitization and reprocessing (EMDR) therapy is a brief trauma-focused, evidence-based treatment for PTSD in adults, but with few well-designed trials involving children and adolescents. Methods: Weconducted a single
Plants sense and integrate a variety of signals from the environment through different interacting signal transduction pathways that involve hormones and signaling molecules. Using ALTERNATIVE OXIDASE1a (AOX1a) gene expression as a model system of retrograde or stress signaling between mitochondria and the nucleus, MYB DOMAIN PROTEIN29 (MYB29) was identified as a negative regulator (regulator of a
Background: The neotropical anopheline mosquito Anopheles darlingi is a major malaria vector in the Americas. Studies on mosquito-associated microbiota have shown that symbiotic bacteria play a major role in host biology. Mosquitoes acquire and transmit microorganisms over their life cycle. Specifically, the microbiota of immature forms is largely acquired from their aquatic environment. Therefore
Mild reductive catalytic depolymerization (MRCD) of lignin offers a sustainable route to produce functionalized aromatic compounds. However, the economic viability is hindered by the need for expensive palladium (Pd) catalysts and the limited exploration of continuous flow reactors (CFRs), which are essential to achieve an adequate production scale. This study examines the impact of partial replac
DIVISION OF STRUCTURAL MECHANICS Faculty of Engineering LTH, Lund University, Box 118, SE-221 00 Lund, Sweden • Tel: + 46 (0)46-222 73 70 • Fax: + 46 (0)46-222 44 20 • www.byggmek.lth.se xpTVSM-5220 (2016-09) MASTER’S DISSERTATION AT STRUCTURAL MECHANICS DEPARTMENT OF CONSTRUCTION SCIENCES | FACULTY OF ENGINEERING LTH | LUND UNIVERSITY ALBIN INGMARSSON PRESENTATION FEBRUARY 2017 REPORT Will be pub
https://www.byggmek.lth.se/fileadmin/byggnadsmekanik/education/masterprojects/descriptions/xp5220.pdf - 2026-07-23
The human gut microbiome in early-onset type 1 diabetes from the TEDDY study Letter https://doi.org/10.1038/s41586-018-0620-2 The human gut microbiome in early-onset type 1 diabetes from the TEDDY study Tommi Vatanen1*, Eric A. Franzosa1,2, Randall Schwager2, Surya Tripathi1, Timothy D. Arthur1, Kendra Vehik3, Åke Lernmark4, William A. Hagopian5, Marian J. Rewers6, Jin-Xiong She7, Jorma Toppari8,9
https://www.teddy.lu.se/sites/teddy.lu.se/files/2021-03/41586_2018_Article_620.pdf - 2026-07-23
List of selected publications from our research group exemplifying the projects we are conducting. Blom. A. M., Pertoft H. and Fries E. (1995) Inter-a-inhibitor is required for the formation of the hyaluronan-containing coat on fibroblasts and mesothelial cells. J. Biol. Chem., 270, 9698-9701. Blom A. M., Mörgelin M., Öyen M., Jarvet J. and Fries E. (1999) Structural characterization of inter-a-in
https://www.protein-chemistry.lu.se/top-publications/selected-publications-group - 2026-07-23
Gör virusen oss smartare? – Vetenskap och Hälsa Hoppa till innehåll Vetenskap och hälsa Populärvetenskapligt om medicinsk forskning i Skåne Teman Podd Tidskrift Prenumerera Om webbplatsen Kontakt Sök Sök Gör virusen oss smartare? 2015-01-13 ⚠️ Den här artikeln är mer än 5 år gammal. Nya forskningsrön kan ha tillkommit. Hjärnans uppbyggnad är alltjämt en av vår tids största gåtor. Särskilt den mäns
https://www.vetenskaphalsa.se/gor-virusen-oss-smartare/ - 2026-07-24
Molekylär kunskap för att bekämpa hudmelanom – Vetenskap och Hälsa Hoppa till innehåll Vetenskap och hälsa Populärvetenskapligt om medicinsk forskning i Skåne Teman Podd Tidskrift Prenumerera Om webbplatsen Kontakt Sök Sök Molekylär kunskap för att bekämpa hudmelanom 2019-10-28 ⚠️ Den här artikeln är mer än 5 år gammal. Nya forskningsrön kan ha tillkommit. Illustration över hur en lymfocyt dödar e
https://www.vetenskaphalsa.se/molekylar-kunskap-for-att-bekampa-hudmelanom/ - 2026-07-24
