Psoriatic arthritis mutilans (PAM) is a rare variant and the most severe form of psoriatic arthritis where patients present erosions of the small joints and osteolysis leading to joint disruption and shortening of one or more digits. To date, no susceptibility genes have been determined.
Genescience Pharmaceuticals Co. Ltd. has described cannabinoid CB2 receptor agonists reported to be useful for the treatment of arthritis, systemic lupus erythematosus, inflammatory bowel disease, allergic contact dermatitis, colitis, autoimmune diseases and pain.
Genome sequencing has identified several single-nucleotide polymorphisms (SNPs) tied to osteoporosis, but most of them are located in noncoding regions. Investigators identified a SNP which impacted the YY2-PAPSS2 axis and risk of osteoporosis; the PAPSS2 gene encodes bifunctional 3’-phosphoadenosine 5’-phosphosulfate synthase 2.
Bleeding of unknown cause is a group of rare disorders that are still difficult to accurately diagnose. A case report on a patient with hematoma in the perineal region after her first delivery was presented.
Vandria SA has been awarded two grants totaling €3.8M (US$4.1M) from Innosuisse and Eurostars to support its two lead drug candidates addressing CNS and muscle diseases, respectively.
Muna Therapeutics ApS has disclosed new triggering receptor expressed on myeloid cells 2 (TREM2) agonists reported to be useful for the treatment of osteoporosis, rheumatoid arthritis, systemic lupus erythematosus, type 2 diabetes, obesity, metabolic dysfunction-associated steatotic liver disease, neurodegenerative and inflammatory bowel disease, among others.
Previous research has shown that the three isoforms of transforming growth factor β (TGF-β) have distinct cellular expression patterns, with TGF-β2 and TGF-β3 expression being specifically elevated in human fibrotic lung and liver tissue. Since pan-TGF-β inhibition had proven to be toxic for chronic use, in recent work, researchers from Genentech Inc. aimed to assess whether specifically targeting one of the TGF-β isoforms could represent a novel therapeutic option for patients with chronic fibrotic disorders.
Japanese researchers have presented data from the biggest Asian genome-wide association study (GWAS) regarding susceptibility loci for systemic sclerosis (SSc), comprising a total of 1,428 cases and 112,599 controls and with an imputation reference panel containing more than 3,000 Japanese whole-genome sequencing data.
China Pharmaceutical University has synthesized kaurane tetracyclic diterpenoid derivatives acting as NLRP3 inflammasome inhibitors reported to be useful for the treatment of arthritis and skin disorders.
Researchers at F. Hoffmann-La Roche Ltd. and Hoffmann-La Roche Inc. have described imidazo[4,5-b]pyridine and pyrazolo[1,5-a]pyrimidine derivatives acting as serine/threonine-protein kinase SIK inhibitors reported to be useful for the treatment of juvenile idiopathic arthritis, nonalcoholic steatohepatitis (NASH), primary sclerosing cholangitis, inflammatory bowel disease, atherosclerosis, type 2 diabetes and glomerulonephritis, among others.
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