Results 31 to 40 of about 10,613 (196)

Clinical and Radiological Findings of Autosomal Dominant Osteopetrosis Type II: A Case Report

Case Reports in Dentistry, 2013
Osteopetrosis is a rare inherited genetic disease characterized by sclerosis of the skeleton caused by the absence or malfunction of osteoclasts. Three distinct forms of the disease have been recognized, autosomal dominant osteopetrosis being the most ...
Priyanka Kant, Neelkamal Sharda, Rahul R. Bhowate   +2 more
doaj   +1 more source

WTAP Transcriptional Suppression by KLF9 Drives Osteoclastogenesis via M6A‐Mediated Regulation of CSF1R Signaling in Estrogen‐Deficient Osteoporosis

Advanced Science, EarlyView.
Scheme of the KLF9/WTAP/YTHDF2/m6A/CSF1R regulatory axis in osteoclastogenesis and estrogen‐deficient osteoporosis. WTAP‐mediated m6A modification of Csf1r mRNA governs osteoclastogenesis via a YTHDF2‐mediated pathway. Pathological upregulation of KLF9 drives Wtap transcription, leading to increased m6A deposition on the 3’‐UTR of Csf1r mRNA.
Chen Shen, Xin Liu, Gaoran Ge, Li Xu, Ziyu Zhang, Chang Lv, Hao Xu, Wenhao Li, Yi Qin, Qifeng Sheng, Qihan Wang, Hongxia Li, Jun Zhou, Huilin Yang, Dechun Geng   +14 more
wiley   +1 more source

Osteopetrosis

, 2019
Osteopetrosis is an osteoclast disease due to impairment of either osteoclastogenesis or bone resorption. It was first described in 1904 by Albers-Schönberg and is also called marble bone disease because of the dense bones observed by X-ray ...
Teti A., Maurizi A.
core   +1 more source

Osteopetrosis: A rare case

Annals of Medical Science and Research, 2022
Osteopetrosis is a rare inherited metabolic bone disease characterized by failure of osteoclasts to resorb bone leading to impairment of bone modeling and remodeling.
Niladri Das, Pranab Kumar Sahana, Silima Subhasnigdha Tarenia, Prashant Manohar Gaikwad, Arjun Baidya, Nilanjan Sengupta, Soumik Goswami   +6 more
doaj   +1 more source

Radiographic Screening of Wild and Semi‐Wild Cape Ground Squirrels (Geosciurus inauris) for the Presence of Peri‐Apical Masses Associated With Elodont Incisor Teeth

Zoo Biology, EarlyView.
Peri‐apical masses were absent in both wild and semi‐wild Cape ground squirrels, despite dietary differences and minor incisor trauma. These findings suggest such lesions are rare outside captivity and not induced by low‐fiber diets alone, adding to the literature on environmental and dietary risk factors in elodont tooth pathology.
Quintin Norval, Adrian Tordiffe, Gerhard Steenkamp   +2 more
wiley   +1 more source

OSTEOPETROSIS IN CHILDREN

International Journal of Clinical Practice, 1998
SUMMARYOver a 10‐year period, 28 Arab children with autosomal recessive osteopetrosis were seen in two hospitals in Riyadh, Saudi Arabia. Eighteen (64%) had osteopetrosis associated with metabolic acidosis probably due to a renal tubular defect; nine (32%) had a malignant infantile form of osteopetrosis and one had a mild form with delayed onset ...
S A, al-Rasheed, O, al-Mohrij, N, al-Jurayyan, A, al-Herbish, M, al-Mugeiren, A, al-Salloum, M, al-Hussain, M, el-Desouki   +7 more
openaire   +2 more sources

Osteopetrosis Complicated by Maxillary Osteomyelitis: A Case Report [PDF]

Iranian Journal of Otorhinolaryngology, 2011
Introduction: Maxillary osteomyelitis is a rare phenomenon. If it occurs, evaluation for underlying disease especially osteopetrosis must be considered. Osteomyelitis occurs as a complication in 10% of the cases of osteopetrosis.
Bijan Khademi, Venon Asefi, Mehdi Tarzi
doaj   +2 more sources

CCDC154 Mutant Caused Abnormal Remodeling of the Otic Capsule and Hearing Loss in Mice

Frontiers in Cell and Developmental Biology, 2021
Osteopetrosis is a rare inherited bone disease characterized by dysfunction of osteoclasts, causing impaired bone resorption and remodeling, which ultimately leads to increased bone mass and density.
Kai Xu, Xue Bai, Sen Chen, Le Xie, Yue Qiu, He Li, Yu Sun   +6 more
doaj   +1 more source

Diffuse cranial vault hyperostosis associated with long‐term antiepileptic therapy: Autopsy findings and differential diagnostic considerations

Journal of Forensic Sciences, EarlyView.
Abstract Diffuse cranial vault hyperostosis is an uncommon finding and may present a diagnostic challenge in clinical and forensic practice. We report the case of a 53‐year‐old woman with a long‐standing history of epilepsy treated with phenytoin and sodium valproate who collapsed at home suddenly and died despite resuscitative efforts.
Maria Piagkou, Athina Tousia, George Triantafyllou, Dimitrios Vlachodimitropoulos, Samer Al Besher, Panagiotis Manolarakis‐Papadopoulos, Alexandros Samolis, Stavroula Papadodima   +7 more
wiley   +1 more source

Osteopetrorickets in an infant with coexistent congenital cytomegalovirus infection

Balkan Journal of Medical Genetics, 2021
Osteopetrosis refers to a group of rare hereditary disorders characterized by generalized skeletal densification due to limited bone resorption by osteoclasts.
Katsafiloudi M, Gombakis N, Hatzipantelis E, Tragiannidis A   +3 more
doaj   +1 more source