Results 21 to 30 of about 7,918 (168)

A rare case report of intermediate osteopetrosis and review of literature

Journal of Cleft Lip Palate and Craniofacial Anomalies, 2014
Osteopetrosis also known as "marble bone disease" is a group of rare genetic disorders caused by osteoclast failure, which ranges widely in severity.
Priyanka Verma, Sonali Kadam, Hemant Rangnath Umarji, Varun Surya   +3 more
doaj   +1 more source

Overlapping Phenotypes in Osteopetrosis and Pycnodysostosis in Asian-Indians

Case Reports in Genetics, 2021
Osteopetrosis is a disorder characterized by high bone density, hepatosplenomegaly, visual and hearing loss, and anemia. Pycnodysostosis presents with short stature, acroosteolysis, and dense bones.
Parminder Kaur, Inusha Panigrahi, Harleen Kaur, Thakurvir Singh, Chakshu Chaudhry   +4 more
doaj   +1 more source

Machine drill bit for surgical management of shaft of femur fracture in osteopetrosis - A case report of rare disease

Journal of Orthopaedic Reports, 2022
Background: Osteopetrosis is a collection of illnesses with increased bone density on plain radiographs that are clinically and genetically heterogeneous.
Vikas Maheshwari, Varun Garg, Saurabh Sinha, Aditya K.S. Gowda, Vivek Singh   +4 more
doaj   +1 more source

Clinicoradiological Findings of Benign Osteopetrosis: Report of Two New Cases

Journal of Dental Research, Dental Clinics, Dental Prospects, 2012
Osteopetrosis represents a heterogeneous group of rare, hereditary bone dysplasias that share the hallmark of increased bone density caused by osteoclast dysfunction. It can manifest through a spectrum of symptoms and severity, from neonatal onset with
Elahe Tohidi, Ali Bagherpour
doaj   +1 more source

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

Osteomyelitis of the Mandible Secondary to Osteopetrosis: A Case Report

Turkish Archives of Otorhinolaryngology, 2013
Osteopetrosis is a rare genetic bone dysplasia that develops secondary to defective activity of osteoclasts in bone resorption and remodelling functions.
Mehmet Durmuşoğlu, Ersoy Doğan, Mustafa Cenk Ecevit, Taner Kemal Erdağ   +3 more
doaj   +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

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

Dedifferentiation in endometrial cancer is associated with HLA‐I silencing that may be restored by IFN‐γ

The Journal of Pathology, EarlyView.
Abstract Dedifferentiated endometrial carcinoma occurs when a prognostically favorable low‐grade endometrial carcinoma transforms into a highly aggressive undifferentiated carcinoma following genomic inactivation of core SWItch/Sucrose Non‐Fermentable (SWI/SNF) complex protein(s).
Antonio De Leo, Madison Wickenberg, Marco Grillini, Camelia Alexandra Coadǎ, Pooja Praveen Kumar, Annie Tong, James Key, Hannah Kim, Felix Kommoss, Mark Carey, Yangxin Fu, Claudio Ceccarelli, Giovanni Tallini, Paul LaPointe, Martin Köbel, Cheng‐Han Lee   +15 more
wiley   +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