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Showing 1 to 12 of 80 entries
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Computerised versus conventional methodology of radiographic joint destruction assessment in early rheumatoid arthritis.

RMD open

Huo Y, De Hair MJ, Shaib YO, van der Heijde D, Kuchuk NO, Viergever MA, van Laar JM, Vincken KL, Lafeber FP.
PMID: 26688750
RMD Open. 2015 Dec 09;1(1):e000148. doi: 10.1136/rmdopen-2015-000148. eCollection 2015.

OBJECTIVES: To compare computerised and conventional methodology of radiographic joint destruction assessment in early rheumatoid arthritis (RA).METHODS: We investigated the contribution of the 3rd-to-5th carpometacarpal joints (CMC3-5, which are excluded in computerised assessment so far owing to bone overlapping)...

NAFLD Phenotype in Patients With V-ATPase Proton Pump Assembly Defects.

Cellular and molecular gastroenterology and hepatology

Jansen JC, Wolthuis D, Van Scherpenzeel M, Ratziu V, Drenth JPH, Lefeber DJ.
PMID: 29675453
Cell Mol Gastroenterol Hepatol. 2018 Jan 18;5(3):415-417.e1. doi: 10.1016/j.jcmgh.2017.12.011. eCollection 2018 Mar.

No abstract available.

An Unexplained Congenital Disorder of Glycosylation-II in a Child with Neurohepatic Involvement, Hypercholesterolemia and Hypoceruloplasminemia.

JIMD reports

Calvo PL, Spada M, Rabbone I, Pinon M, Porta F, Cisarò F, Reggiani S, Cefalù AB, Sturiale L, Garozzo D, Lefeber DJ, Jaeken J.
PMID: 28643274
JIMD Rep. 2018;38:97-100. doi: 10.1007/8904_2017_35. Epub 2017 Jun 23.

We report on a 12-year-old adopted boy with psychomotor disability, absence seizures, and normal brain MRI. He showed increased (but initially, at 5 months, normal) serum cholesterol, increased alkaline phosphatases, transiently increased transaminases and hypoceruloplasminemia with normal serum and...

Five-Year Follow-up of Knee Joint Distraction: Clinical Benefit and Cartilaginous Tissue Repair in an Open Uncontrolled Prospective Study.

Cartilage

van der Woude JAD, Wiegant K, van Roermund PM, Intema F, Custers RJH, Eckstein F, van Laar JM, Mastbergen SC, Lafeber FPJG.
PMID: 28618871
Cartilage. 2017 Jul;8(3):263-271. doi: 10.1177/1947603516665442. Epub 2016 Aug 26.

Objective In end-stage knee osteoarthritis, total knee arthroplasty (TKA) may finally become inevitable. At a relatively young age, this comes with the risk of future revision surgery. Therefore, in these cases, joint preserving surgery such as knee joint distraction...

A mutation in mannose-phosphate-dolichol utilization defect 1 reveals clinical symptoms of congenital disorders of glycosylation type I and dystroglycanopathy.

JIMD reports

van Tol W, Ashikov A, Korsch E, Abu Bakar N, Willemsen MA, Thiel C, Lefeber DJ.
PMID: 31741824
JIMD Rep. 2019 Sep 30;50(1):31-39. doi: 10.1002/jmd2.12060. eCollection 2019 Nov.

Congenital disorders of glycosylation type I (CDG-I) are inborn errors of metabolism, generally characterized by multisystem clinical manifestations, including developmental delay, hepatopathy, hypotonia, and skin, skeletal, and neurological abnormalities. Among others, dolichol-phosphate-mannose (DPM) is the mannose donor for N-glycosylation...

Loss of the AMD-associated B3GLCT gene affects glycosylation of TSP1 without impairing secretion in retinal pigment epithelial cells.

Experimental eye research

Lauwen S, Baerenfaenger M, Ruigrok S, de Jong EK, Wessels HJCT, den Hollander AI, Lefeber DJ.
PMID: 34695439
Exp Eye Res. 2021 Dec;213:108798. doi: 10.1016/j.exer.2021.108798. Epub 2021 Oct 22.

Age-related macular degeneration (AMD) has been associated with protective genetic variants in the β1-3 glucosyltransferase (B3GLCT) locus through genome-wide association studies. B3GLCT mediates modification of proteins with thrombospondin type I repeats (TSR) that contain O-linked glucose β1-3 fucose and...

Defective Lipid Droplet-Lysosome Interaction Causes Fatty Liver Disease as Evidenced by Human Mutations in TMEM199 and CCDC115.

Cellular and molecular gastroenterology and hepatology

Larsen LE, van den Boogert MAW, Rios-Ocampo WA, Jansen JC, Conlon D, Chong PLE, Levels JHM, Eilers RE, Sachdev VV, Zelcer N, Raabe T, He M, Hand NJ, Drenth JPH, Rader DJ, Stroes ESG, Lefeber DJ, Jonker JW, Holleboom AG.
PMID: 34626841
Cell Mol Gastroenterol Hepatol. 2021 Oct 07;13(2):583-597. doi: 10.1016/j.jcmgh.2021.09.013. Epub 2021 Oct 07.

BACKGROUND & AIMS: Recently, novel inborn errors of metabolism were identified because of mutations in V-ATPase assembly factors TMEM199 and CCDC115. Patients are characterized by generalized protein glycosylation defects, hypercholesterolemia, and fatty liver disease. Here, we set out to...

Is tocilizumab monotherapy as effective in preventing radiographic progression in rheumatoid arthritis as its combination with methotrexate?.

Arthritis care & research

Verhoeven MMA, Tekstra J, Jacobs JWG, Bijlsma JWJ, van Laar JM, Pethö-Schramm A, Borm MEA, Lafeber FPJ, Welsing PMJ.
PMID: 33253497
Arthritis Care Res (Hoboken). 2020 Nov 30; doi: 10.1002/acr.24524. Epub 2020 Nov 30.

OBJECTIVE: To compare the effect of preventing radiographic progression (in its 3 components) of tocilizumab (TCZ) monotherapy with those of TCZ combined with methotrexate (TCZ+MTX), and to evaluate possible effect modifiers.METHODS: Randomized trials comparing TCZ-monotherapy with TCZ+MTX combination therapy...

Gene Expression Signatures of Synovial Fluid Multipotent Stromal Cells in Advanced Knee Osteoarthritis and Following Knee Joint Distraction.

Frontiers in bioengineering and biotechnology

Sanjurjo-Rodriguez C, Altaie A, Mastbergen S, Baboolal T, Welting T, Lafeber F, Pandit H, McGonagle D, Jones E.
PMID: 33178674
Front Bioeng Biotechnol. 2020 Oct 14;8:579751. doi: 10.3389/fbioe.2020.579751. eCollection 2020.

Osteoarthritis (OA) is the most common musculoskeletal disorder. Although joint replacement remains the standard of care for knee OA patients, knee joint distraction (KJD), which works by temporarily off-loading the joint for 6-8 weeks, is becoming a novel joint-sparing...

IL4-10 Fusion Protein Shows DMOAD Activity in a Rat Osteoarthritis Model.

Cartilage

van Helvoort EM, de Visser HM, Lafeber FPJG, Coeleveld K, Versteeg S, Weinans HH, Popov-Celeketic J, Eijkelkamp N, Mastbergen SC.
PMID: 34159843
Cartilage. 2021 Dec;13(2):1155S-1164S. doi: 10.1177/19476035211026736. Epub 2021 Jun 23.

OBJECTIVE: Ideally, disease-modifying osteoarthritis (OA) drugs (DMOAD) should combine chondroprotective, anti-inflammatory, and analgesic effects in a single molecule. A fusion protein of interleukin-4 (IL-4) and IL-10 (IL4-10 FP) possesses these combined effects. In this study, the DMOAD activity of...

Defective Lipid Droplet-Lysosome Interaction Causes Fatty Liver Disease as Evidenced by Human Mutations in TMEM199 and CCDC115.

Cellular and molecular gastroenterology and hepatology

Larsen LE, van den Boogert MAW, Rios-Ocampo WA, Jansen JC, Conlon D, Chong PLE, Levels JHM, Eilers RE, Sachdev VV, Zelcer N, Raabe T, He M, Hand NJ, Drenth JPH, Rader DJ, Stroes ESG, Lefeber DJ, Jonker JW, Holleboom AG.
PMID: 34626841
Cell Mol Gastroenterol Hepatol. 2021 Oct 07; doi: 10.1016/j.jcmgh.2021.09.013. Epub 2021 Oct 07.

BACKGROUND & AIMS: Recently, novel inborn errors of metabolism were identified because of mutations in V-ATPase assembly factors TMEM199 and CCDC115. Patients are characterized by generalized protein glycosylation defects, hypercholesterolemia, and fatty liver disease. Here, we set out to...

Letter to the Editor.

Cartilage

Jansen M, Lafeber F.
PMID: 33100026
Cartilage. 2021 Dec;13(1):1830S-1833S. doi: 10.1177/1947603520966856. Epub 2020 Oct 26.

No abstract available.

Showing 1 to 12 of 80 entries