Results 51 to 60 of about 6,213,342 (156)

Camurati-Engelmann Disease: A Narrative Review of Clinical Features, Molecular Pathogenesis, Diagnosis, and Emerging Targeted Therapies [PDF]

Journal of Clinical and Diagnostic Research
Camurati-Engelmann Disease (CED) is a very rare, autosomal-dominant type sclerosing bone dysplasia that is characterised by progressive diaphyseal hyperostosis, cortical thickening of long bones, along with variable involvement of skull-base.
Shashank Yadav, Ratnakar Ambade, Harsh Patel, Ansh Khanduja, Bhagyesh Sapkale   +4 more
doaj   +1 more source

Transforming Growth Factor‐Beta Signaling in Cancer: Therapeutic Implications, Challenges, and Pathways to Progress

MedComm – Oncology, Volume 4, Issue 3, September 2025.
TGF‐β inhibition is emerging as a promising cancer therapy, yet translating laboratory success to bedside implementation has suffered significant setbacks. The associated challenges include adverse drug reactions, inadequate predictive models, and activation of alternative signaling pathways.
Faizah A. Alabi, Izuchukwu F. Okpalanwaka, Adenike Oyegbesan, Ebenezar Okoyeocha, Mariam Oladejo, Sikiru O. Imodoye   +5 more
wiley   +1 more source

Camurati-Engelmann disease: failure of response to bisphosphonates: report of two cases

, 2015
Camurati-Engelmann disease is a rare bone disorder characterized by cortical thickening of the diaphysis of tubular bones, with sparing of the epiphysis.
Coimbra, I, Appenzeller, S, Bertolo, MB, Castro, GRW, Marques-Neto, JF, Samara, AM   +5 more
core   +1 more source

Identification of Novel Modifier Genes Associated With Pain in Cystic Fibrosis: An In Silico Gene Discovery

Human Mutation, Volume 2025, Issue 1, 2025.
Background Cystic fibrosis (CF) is the most common life‐shortening monogenic autosomal recessive disease in Caucasians with diverse and extensive comorbidities. Where the majority of studies have focused on the respiratory and digestive systems, there has been a paucity of research focusing on pain, even though people living with CF have reported a ...
Anastasia Ward, Ramil Mauleon, Chee Y. Ooi, Nedeljka Rosic, Hannah Wesley   +4 more
wiley   +1 more source

Demineralization of the Otic Capsule in Otosclerosis (Otospongiosis)

Philippine Journal of Otolaryngology Head and Neck Surgery, 2009
A 34-year old Filipina presents with bilateral progressive hearing loss and tinnitus of three years' duration. Otologic examination reveals normal external auditory canals and tympanic membranes, with good tympanic membrane mobility on pneumatic otoscopy.
Nathaniel W. Yang
doaj   +1 more source

Osteopetrosis and Its Relevance for the Discovery of New Functions Associated with the Skeleton

International Journal of Endocrinology, Volume 2015, Issue 1, 2015., 2015
Osteopetrosis is a rare genetic disorder characterized by an increase of bone mass due to defective osteoclast function. Patients typically displayed spontaneous fractures, anemia, and in the most severe forms hepatosplenomegaly and compression of cranial facial nerves leading to deafness and blindness.
Amélie E. Coudert, Marie-Christine de Vernejoul, Maurizio Muraca, Andrea Del Fattore, Cristina Sobacchi   +4 more
wiley   +1 more source

A Case Report of a 44-Year-Old Woman With Camurati-Englemann Disease [PDF]

, 2020
CaseA 44-year-old woman presented with easy fatigability, diplopia, dizziness, and a 2-year history of pelvic, hip, and lower extremity aching and pain. Radiograph, magnetic resonance imaging, computed tomography, and histopathologic imaging studies were
Rebisi A. Owhonda, Steven Mumm, Wells, Joel E, Lloyd, Eric W, Eric W. Lloyd, Owhonda, Rebisi A, Mumm, Steven, Kimonis, Virginia, Joel E. Wells, Virginia Kimonis   +9 more
core   +1 more source

Camurati-Engelmann disease – A case report of a rare diaphyseal dysplasia

Journal of Orthopaedic Reports
Background: Camurati Engelmann disease is an uncommon genetic disorder affecting mainly the diaphysis of long bones. The rarity of this disease and the reduced availability of literature often creates a diagnostic confusion among the treating physicians.
C.U. Jijulal, Krishnendu R. Nair, Mansoor C. Abdulla, Sreeja Sreedharan, Naveen P. Gopinath, Sibin Surendran, Gopinathan Patinharayil, V.V. Muhammed Fazil   +7 more
doaj   +1 more source

Rare osteodysplasia of the temporal bone [PDF]

, 2005
Temporal bone osteodysplasia can produce many different symptoms, such as involvement restricted to the temporal bone or impairment of other bones. We consider, in this study two entities that are rare osteodysplasia cases, which are osteopetrosis and ...
Barberi, Jose Antonio Ferreira [UNIFESP], Testa, Jose Ricardo Gurgel [UNIFESP], Barberi,José A.F., Antunes, Marcos L., Antunes, Marcos Luiz [UNIFESP], Frazatto, Ricardo [UNIFESP], Frazatto, Ricardo, Silva, Rogério Fernandes Nunes da [UNIFESP], Silva,Rogério F.N.D., Testa,José R. G., Frazatto,Ricardo, Antunes,Marcos L., Marcos L. Antunes, José A.F. Barberi, Ricardo Frazatto, José R. G. Testa, Rogério F.N.D. Silva, Testa, Jose R.G., Barberi, Jose A.F., Silva, Rogerio F.N.D.   +19 more
core   +2 more sources

Camurati-Engelmann Disease in a Family from Croatian Island: An Old Bone Scan Confirmed Pattern of Inheritance [PDF]

, 2014
34-year old patient had history of muscular wasting, easy fatigability, pain in extremities and waddling gait since age of four. During the time, neuromuscular disease was suspected, but not confirmed.
Baretić, Maja, Potočki, Kristina, Herceg Horvatić, Gordana, Crnčević Orlić, Željka, Koršić, Mirko   +4 more
core   +1 more source