Results 11 to 20 of about 2,391 (154)

Melorheostosis: Clinical, radiological, and histopathological features with a literature review. [PDF]

open access: yesPhysiol Rep
Abstract Melorheostosis is a rare sclerosing bone dysplasia that can clinically and radiologically mimic common bone disorders, particularly in atypical presentations. Its heterogeneous manifestations and limited awareness among clinicians frequently contribute to diagnostic delays or misdiagnosis. We report the case of a 34‐year‐old woman with chronic
Koca E   +5 more
europepmc   +2 more sources

A Novel Autosomal Recessive GJA1 Missense Mutation Linked to Craniometaphyseal Dysplasia [PDF]

open access: yes, 2013
Craniometaphyseal dysplasia (CMD) is a rare sclerosing skeletal disorder with progressive hyperostosis of craniofacial bones. CMD can be inherited in an autosomal dominant (AD) trait or occur after de novo mutations in the pyrophosphate transporter ANKH.
Almeida, S   +7 more
core   +8 more sources

George Higoumenakis (1895-1983): Greek dermatologist [PDF]

open access: yes, 2009
This paper describes the Higoumenakis sign, enlargement of the sternal end of the clavicle in patients with late congenital syphilis and the dermatologist after whom it is named. Several professors and doctors from the Medical School of the University of
Frangos, CC, Frangos, CC
core   +1 more source

Wall paintings facies and their possible genetic correlates in the ancient Pompeii: A bio-anthropologic message from the past? [PDF]

open access: yes, 2016
The figurative arts and precisely the ancient Pompeian wall paintings portraits can provide an additional source of information in supplementing bio-anthropological studies.
MANFREDINI, Marco   +2 more
core   +1 more source

Chiari Type I Malformation Caused by Craniometaphyseal Dysplasia [PDF]

open access: yes, 2013
Craniometaphyseal dysplasia is a rare genetic condition characterized by progressive thickening of bones in the skull and metaphyseal abnormalities in the long bones.
Arataki, Shinya   +5 more
core   +1 more source

Scientometric evaluation of the global research in acne disease [PDF]

open access: yes, 2023
Background: Although acne is one of the most common diseases, medical literature lacks a scientometric analysis relevant to this disorder. In the present study we aimed to perform a scientometric evaluation of literature related to acne.
Khakimova, Aida   +2 more
core   +2 more sources

Chronic nonbacterial osteomyelitis in childhood: prospective follow-up during the first year of anti-inflammatory treatment [PDF]

open access: yes, 2010
Introduction: Chronic nonbacterial osteomyelitis (CNO) is an inflammatory disorder of unknown etiology. In children and adolescents CNO predominantly affects the metaphyses of the long bones, but lesions can occur at any site of the skeleton ...
Beck, Christine   +8 more
core   +2 more sources

Systemic Control of Bone Homeostasis by FGF23 Signaling [PDF]

open access: yes, 2016
The regulation of phosphate metabolism as an influence on bone homeostasis is profound. Recent advances in understanding the systemic control of Fibroblast growth factor-23 (FGF23) has uncovered novel effectors of endocrine feedback loops for calcium ...
Clinkenbeard, Erica L.   +1 more
core   +1 more source

Imaging of adult ocular and orbital pathology - a pictorial review [PDF]

open access: yes, 2014
Orbital pathology often presents a diagnostic challenge to the reporting radiologist. The aetiology is protean, and clinical input is therefore often necessary to narrow the differential diagnosis.
Brennan, Paul   +8 more
core   +1 more source

Autoimmunity, Autoinflammation, and Infection in Uveitis [PDF]

open access: yes, 2018
Funding/Support: No funding or grant support. Financial Disclosures: John V. Forrester has received an honorarium for lecturing from Janssen (London, UK). Lucia Kuffova has undertaken consultancy work for Abbvie (London, UK). Andrew D.
Dick, Andrew D.   +2 more
core   +4 more sources

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