Results 31 to 40 of about 7,918 (168)

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

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

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

Periodontal and orthodontic management of impacted canines

Periodontology 2000, EarlyView.
Abstract The maxillary and mandibular canines are described by many clinicians as the “cornerstone” of the arch. When in their optimal position, they play a critical role in providing a well‐balanced occlusal scheme that contributes toward functional as well as neuromuscular stability, harmony, esthetics, and dentofacial balance.
Mohammad Qali, Chenshuang Li, Chun‐Hsi Chung, Nipul Tanna   +3 more
wiley   +1 more source

Novel Mutation in T-Cell Immune Regulator 1: A Case of Adult-Onset Autosomal Recessive Osteopetrosis

Endocrinology Research and Practice, 2022
Osteopetrosis is a rare genetic disorder. Defective osteoclast function causes increased bone mass. It can occur in varying severity from mild forms that are asymptomatic to fatal forms.
Esma Gülsun Arslan Cellat, Ersin Akarsu, Zeynel Abidin Sayiner, Ayşenur Kördüğüm   +3 more
doaj  

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 1953-1972, September 2026.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll, Yves Alembik, Marie‐Paule Roth   +2 more
wiley   +1 more source

Osteopetrosis complicated by multilevel spondylolysis

Radiology Case Reports
Osteopetrosis is a heterogenous group of inheritable disorders which manifests as increased bone density and brittleness. The most common and mildest variant typically presents in adulthood with bone pain and pathologic fractures, including spondylolysis.
William W. Pryor, III, MD, Carolina V. Guimaraes, MD, Lane F. Donnelly, MD   +2 more
doaj   +1 more source

Cell Death in Neurodegenerative Diseases: Molecular Mechanisms and Therapeutic Targets

MedComm, Volume 7, Issue 9, September 2026.
Regulated cell death pathways, including apoptosis, necroptosis, pyroptosis, ferroptosis, and autophagy‐dependent cell death, interact with mitochondrial dysfunction, proteostasis failure, lysosomal stress, glial remodeling, and neuroinflammation across major neurodegenerative diseases.
Tianjiao Li, Qian Zhang, Yichen Wu, Ruixue Huang   +3 more
wiley   +1 more source

Further understanding on osteopetrotic femoral fractures: a case report and literature review

BMC Surgery, 2021
Background Osteopetrosis is a genetic disease characterized by defects in osteoclast formation and function. There were a few cases of subtrochanteric femur fractures treated with dynamic hip screw (DHS) in patients with osteopetrosis, but unfortunately ...
Haiqi Ding, Hongjiang Chen, Haiming Lin, Jiankun Xu, Zhonglian Huang, Wensheng Li, Jun Hu   +6 more
doaj   +1 more source

Whole Exome Sequencing for Romanian Patients With Neurodevelopmental Disorders Through an International Collaboration

Clinical Genetics, Volume 110, Issue 1, Page 46-63, July 2026.
Whole exome sequencing for Romanian patients with neurodevelopmental disorders through an international collaboration—this study has provided a 50% diagnostic yield for patients with NDDs (27 positive results from 54 patients), supporting the implementation of a WES analysis that can identify SNVs, small INDELs, CNVs, and mitochondrial variants ...
Alexandru Caramizaru, Cristina Durac, Andreea Dumitrescu, Alexandru Calota‐Dobrescu, Alix de Becdelièvre, Marina Konyukh, Denise Cassandrini, Hane Lee, Go Hun Seo, Seung Woo Ryu, Mihai Cucu, Iuliana Manuela Dragomir, Andreea Catana, Homa Tajsharghi, Edoardo Malfatti, Florin Burada, Amelia Dobrescu   +16 more
wiley   +1 more source