Results 51 to 60 of about 10,418 (205)

Infantile malignant osteopetrosis: A case report with review of literature

Journal of Indian Academy of Oral Medicine and Radiology, 2008
Osteopetrosis is a rare hereditary, generalized disorder of bone characterized by a significant increase in the density of the skeletal tissues usually manifesting in two basic forms: an autosomal dominant benign form (osteopetrosis tarda) and an ...
Sunil Chaudhary, Arun Sharma
doaj   +1 more source

"Osteomyelitis of mandible"-a rare presentation of osteopetrosis

Indian Journal of Radiology and Imaging, 2006
Osteopetrosis is a rare metabolic disease. Dental abnormalities may be attributed to the pathological changes in osteopetrosis. Patients with disease seem to be especially susceptible to osteomyelitis of mandible.
I Ahmad, S Z Abbas, F Haque, M Rashid, S A Ahmad   +4 more
doaj   +1 more source

Gender‐related differences in spontaneous osteoclastogenesis in knee osteoarthritis: A potential peripheral biomarker for early disease progression

Journal of Experimental Orthopaedics, Volume 12, Issue 4, October 2025.
Abstract Purpose Osteoclastogenesis, the formation of bone‐resorbing osteoclasts (OCs) from peripheral blood mononuclear cells (PBMCs), is increasingly recognised as a process involved in the pathophysiology of osteoarthritis (OA). This study investigated the phenomenon of spontaneous osteoclastogenesis (OC formation without exogenous stimuli) as a ...
Silvia Brogini, Giulia Sacchi, Viviana Costa, Gianluca Giavaresi, Luca Andriolo, Lorenzo Zanasi, Milena Fini, Giuseppe Filardo, Francesca Veronesi   +8 more
wiley   +1 more source

Surgical Treatment of Osteopetrosis-Related Femoral Fractures: Two Case Reports and Literature Review

Case Reports in Orthopedics, 2014
Osteopetrosis is a rare hereditary disease which is characterized by increased bone density. Bone resorption is insufficient or fails due to the osteoclast defect in osteopetrosis. Half of the patients are asymptomatic and diagnosed incidentally or based
Ahmet Aslan, Yakup Barbaros Baykal, Emin Uysal, Tolga Atay, Vecihi Kirdemir, Metin Lütfi Baydar, Nevres Hürriyet Aydoğan   +6 more
doaj   +1 more source

One Disease, Many Genes: Implications for the Treatment of Osteopetroses

Frontiers in Endocrinology, 2019
Osteopetrosis is a condition characterized by increased bone mass due to defects in osteoclast function or formation. In the last decades, the molecular dissection of osteopetrosis has unveiled a plethora of molecular players responsible for different ...
Sara Penna, Sara Penna, Valentina Capo, Eleonora Palagano, Eleonora Palagano, Cristina Sobacchi, Cristina Sobacchi, Anna Villa, Anna Villa   +8 more
doaj   +1 more source

First Report of MPL c.23T>G (p.M8R) Variant in Congenital Amegakaryocytic Thrombocytopenia: A Case Report

eJHaem, Volume 6, Issue 5, October 2025.
ABSTRACT Congenital amegakaryocytic thrombocytopenia is a rare inherited bone marrow failure syndrome primarily caused by MPL gene mutations. It presents with severe neonatal thrombocytopenia and typically progresses to pancytopenia. We report the first disease‐associated case of the MPL variant c.23T>G, identified through whole‐exome sequencing in an ...
Atbin Latifi, Sina Yousefian
wiley   +1 more source

Reference Data and Predictors of HR‐pQCT‐Derived Muscle Density and Its Prediction of Physical Performance

Journal of Cachexia, Sarcopenia and Muscle, Volume 16, Issue 4, August 2025.
ABSTRACT Background There is increasing awareness of a role for muscle composition in sarcopenia and cachexia. Computed tomography (CT)–based measures of muscle density (MusD) are commonly used to indicate composition, with a decrease in MusD reflecting an increase in muscle fat infiltration. The current study explored predictors of MusD acquired using
Stuart J. Warden, Ziyue Liu, Robyn K. Fuchs, Lilly G. Davisson, Keith G. Avin, Erik A. Imel, Kenneth Lim, Sharon M. Moe, Rachel K. Surowiec   +8 more
wiley   +1 more source

Pleiotropic Effects of the NSAID Fenamates on Chloride Channels: Opportunity for Ion Channelopathies?

Pharmacology Research &Perspectives, Volume 13, Issue 4, August 2025.
ABSTRACT Chloride channels are involved in many cellular processes, including cell volume regulation, modulation of cell excitability, and electrolyte and water secretion. Mutations of these proteins are associated with heterogeneous diseases such as myotonia, cystic fibrosis, epilepsy, deafness, lysosomal storage disease, and various kinds of renal ...
Paola Laghetti, Ilaria Saltarella, Simone Dell'Atti, Jean‐François Desaphy, Concetta Altamura   +4 more
wiley   +1 more source

Benign osteopetrosis with secondary osteomyelitic changes in the mandible: A report of two rare cases

Journal of Indian Academy of Oral Medicine and Radiology, 2009
Osteopetrosis is a name given to a group of diseases that affect the growth and remodeling of the bone. It is characterized by overgrowth and sclerosis of bone, with a resultant thickening of bony cortices and narrowing of marrow cavities throughout the ...
S Jayachandran, S.S.A Mohamed Riyaz, L Kayal   +2 more
doaj   +1 more source

Detection of Arachnomelia Syndrome in Simmental Cattle in Türkiye

Veterinary Medicine and Science, Volume 11, Issue 4, July 2025.
The first identification of MOCS1‐related Arachnomelia Syndrome in Simmental cattle in Türkiye reveals a 1.03% carrier rate. Genetic screening and removal of carriers are recommended to prevent the spread of this lethal hereditary disorder. ABSTRACT Hereditary diseases in cattle lead to economic losses across various breeds worldwide, with arachnomelia
Mehmet Cevat Temizkan, Gonca Sonmez, Emre Sayar   +2 more
wiley   +1 more source