Results 41 to 50 of about 6,845 (196)
Doege-Potter Syndrome with a Benign Solitary Fibrous Tumor: A Case Report and Literature Review
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
High Bone Mass Disorders: New Insights From Connecting the Clinic and the Bench
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
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
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
PB2553: GENOTYPIC CHARACTERIZATION OF RARE INHERITED ANAEMIAS USING NEXT GENERATION SEQUENCING METHODS [PDF]
HemaSphere, Volume 7, Issue S3, August 2023.
Viswanathan G +6 more
europepmc +2 more sources
Introduction Pachydermoperiostosis or primary hypertrophic osteoathropathy is a rare genetic disease with autosomal transmission. This disorder, which affects both bones and skin, is characterized by the association of dermatologic changes (pachydermia ...
Akrout Rim +5 more
doaj +1 more source
A Rare Cause of Refractory Anaemia hidden between Folds
British Journal of Haematology, Volume 202, Issue 4, Page 712-712, August 2023.
Syna Hamani +3 more
wiley +1 more source
Primary Idiopathic Osteoarthropathy: Could It Be Related to Alcoholism?
Background. Hypertrophic osteoarthropathy (HOA) is a syndrome characterized by abnormal proliferation of the skin and bony structures at the distal extremities resulting in digital clubbing, periosteal bony reaction, and joint effusion. It can be primary
Yanal Alnimer +3 more
doaj +1 more source
Hypertrophic osteoarthropathy (HOA) is a syndrome characterized by digital clubbing, periosteal bone formation, and synovial effusions. Secondary HOA is associated with intrathoracic malignancy in most cases; however, in rare cases, HOA can be caused ...
Ji Yeon Hwang +3 more
doaj +1 more source
Pachydermoperiostosis Mimicking Inflammatory Arthritis: Case Description and Narrative Review
Pachydermoperiostosis (PDP), also called primary hypertrophic osteoarthropathy (HOA), is a rare genetic disease with typical thickening of the skin (pachydermia) and rheumatic manifestations, with clubbing of the fingers and toes and periostosis of the ...
AKM Kamruzzaman +7 more
doaj +1 more source

