Results 21 to 30 of about 1,818 (201)
Nosology of genetic skeletal disorders: 2023 revision
American Journal of Medical Genetics Part A, Volume 191, Issue 5, Page 1164-1209, May 2023., 2023 Abstract The “Nosology of genetic skeletal disorders” has undergone its 11th revision and now contains 771 entries associated with 552 genes reflecting advances in molecular delineation of new disorders thanks to advances in DNA sequencing technology.
Sheila Unger +20 more
wiley +1 more source
A case report of an extremely rare association of ankylosing spondylitis with pachydermoperiostosis
Clinical Case Reports, Volume 11, Issue 5, May 2023., 2023 Key Clinical Message We describe a case of a young man with features of pachydermoperiostosis and spondyloarthropathy. By describing this rarity, we aim to help build a database for future studies and construct a management plan that rheumatologists and clinicians can use.
Faiq I. Gorial +2 more
wiley +1 more source
Osteoartropatia hipertrófica secundária a neoplasia pulmonar: Relato de caso
Revista Portuguesa de Pneumologia, 2009 Resumo: A osteoartropatia hipertrófica secundária é uma alteração sistémica que acomete os ossos, as articulações e as partes moles, sendo secundária a alguma patologia intratorácica.
Angelo Ferreira da Silva Junior +5 more
doaj +1 more source
Advanced Science, Volume 10, Issue 10, April 5, 2023., 2023 The SIRT3‐medicated post‐translational acetylation of the mitochondrial respiratory chain has therapeutic potential for the treatment of osteoarthritis (OA). Mechanistically, SIRT3 directly binds and deacetylates COX4I2 to promote mitochondrial respiration activity.
Yijian Zhang +12 more
wiley +1 more source
Doege-Potter Syndrome with a Benign Solitary Fibrous Tumor: A Case Report and Literature Review
Case Reports in Oncology, 2021 Doege-Potter syndrome is a rare paraneoplastic syndrome that is often diagnosed incidentally during the workup of hypoglycemia of unclear etiology. It is characterized by a non-islet cell tumor hypoglycemia secondary to excessive production of partially ...
Turab Mohammed +5 more
doaj +1 more source
PB2553: GENOTYPIC CHARACTERIZATION OF RARE INHERITED ANAEMIAS USING NEXT GENERATION SEQUENCING METHODS [PDF]
Hemasphere, 2023 HemaSphere, Volume 7, Issue S3, August 2023.
Viswanathan G +6 more
europepmc +2 more sources
High Bone Mass Disorders: New Insights From Connecting the Clinic and the Bench
Journal of Bone and Mineral Research, Volume 38, Issue 2, Page 229-247, February 2023., 2023 ABSTRACT Monogenic high bone mass (HBM) disorders are characterized by an increased amount of bone in general, or at specific sites in the skeleton. Here, we describe 59 HBM disorders with 50 known disease‐causing genes from the literature, and we provide an overview of the signaling pathways and mechanisms involved in the pathogenesis of these ...
Dylan J.M. Bergen +19 more
wiley +1 more source
CD38 Drives Progress of Osteoarthritis by Affecting Cartilage Homeostasis
Orthopaedic Surgery, Volume 14, Issue 5, Page 946-954, May 2022., 2022 CD38 is a membrane‐bound protein. This study primarily implicates CD38 as an important regulator of chondrogenic differentiation. Inhibition of CD38 demonstrated protection against cartilage degeneration, which suggests that CD38 could be a potential therapeutic target for OA.
Jin‐jin Ma +9 more
wiley +1 more source
Journal of Medical Case Reports, 2018 Background Primary hypertrophic osteoarthropathy also known as pachydermoperiostosis is a rare genetic disorder that has often been confused with acromegaly because of similar clinical features.
Yacoba Atiase +6 more
doaj +1 more source
Нижневолжский археологический вестник, 2023 The necropolis at the Cathedral Hill in Vyazma is mainly dated to the late 13th c. AD, and likely contains burials of the citizens of a high social status.
Andrey A. Evteev, Anna A. Tarasova
doaj +1 more source