نتایج جستجو برای: progressive osseous heteroplasia

تعداد نتایج: 122680  

Journal: :European journal of endocrinology 2016
Susanne Thiele Giovanna Mantovani Anne Barlier Valentina Boldrin Paolo Bordogna Luisa De Sanctis Francesca M Elli Kathleen Freson Intza Garin Virginie Grybek Patrick Hanna Benedetta Izzi Olaf Hiort Beatriz Lecumberri Arrate Pereda Vrinda Saraff Caroline Silve Serap Turan Alessia Usardi Ralf Werner Guiomar Perez de Nanclares Agnès Linglart

OBJECTIVE Disorders caused by impairments in the parathyroid hormone (PTH) signalling pathway are historically classified under the term pseudohypoparathyroidism (PHP), which encompasses rare, related and highly heterogeneous diseases with demonstrated (epi)genetic causes. The actual classification is based on the presence or absence of specific clinical and biochemical signs together with an i...

Journal: :Medicina oral, patologia oral y cirugia bucal 2007
Santiago Gómez Gomez-Diez Lorena Gallego López María López Escobar Luis Junquera Gutiérrez Narciso Pérez Oliva

Progressive facial hemiatrophy (PFH) is a rare condition characterized by the slow, progressive appearance of a unilateral facial atrophy that affects the skin, subcutaneous tissue, muscle and bone. We report the case of a 60-year-old female patient whose cutaneous symptoms commenced in 1987 in the form of a purplish erythema on the left side of her face and neck, which subsequently remitted gi...

Journal: :The Journal of bone and joint surgery. American volume 1994
F S Kaplan R Craver G D MacEwen F H Gannon G Finkel G Hahn J Tabas R J Gardner M A Zasloff

2012
Benedetta Izzi Inge Francois Veerle Labarque Chantal Thys Christine Wittevrongel Koen Devriendt Eric Legius Annick Van den Bruel Marc D'Hooghe Diether Lambrechts Francis de Zegher Chris Van Geet Kathleen Freson

BACKGROUND Pseudohypoparathyroidism (PHP) indicates a group of heterogeneous disorders whose common feature is represented by impaired signaling of hormones that activate Gsalpha, encoded by the imprinted GNAS gene. PHP-Ib patients have isolated Parathormone (PTH) resistance and GNAS epigenetic defects while PHP-Ia cases present with hormone resistance and characteristic features jointly termed...

A four-year-old male Persian cat was referred with three weeks history of progressive lameness due to a rigid osseous mass with 3.50×2.50×2.00 cm in dimensions in his left arm. In the histopathological evaluation of bone biopsy, two distinct populations of cells including multinucleated giant cells and oval cells which embedded in a fibro-osseous stroma and surrounded by lamellar bone trabecula...

Journal: :ORL; journal for oto-rhino-laryngology and its related specialties 2002
H Stimmer W Arnold M Schwaiger C Laubenbacher

Otosclerosis very often leads to severe hearing loss in a chronic progressive manner. In the first phase of the disease, otospongiosis causes an inflammatory osteolytic process in the osseous labyrinthine capsule. In the cases reported here, this osteolytic process was pronounced in the osseous capsule of the cochlea. High-resolution CT and MRI showed the precise localization and stage of this ...

2012
Ljudevit Jurak P. Radulović I. Pavić L. Kotrulja S. Ožanić-Bulić I. Dediol T. Džombeta C. Lež F. Szerda B. Krušlin

Cutaneous osteoma (CO) is a rare entity with only scattered cases reported in the literature. Cutaneous ossifications are divided into primary and secondary CO. Secondary CO accounts for 85% of cutaneous ossifications and develops within preexisting neoplastic or inflammatory skin lesions. Primary CO accounts for about 15% of cutaneous ossifications and develops on its own. A 7-month-old child,...

Journal: :International journal of oral and maxillofacial surgery 1999
M Miyake S Nagahata

A case of florid cemento-osseous dysplasia in a 16-year-old Japanese boy is presented. The lesion was unusually large and affected all four quadrants. Progressive increase in the bulk of the lesion was seen.

1999
Jorge M Saraiva Alexandra Dinis Cristina Resende Emília Faria Clara Gomes A Jorge Correia Júlia Gil Nicolau da Fonseca

Immuno-osseous dysplasia is characterised by spondyloepiphyseal dysplasia, lymphopenia with defective cellular immunity, and progressive renal disease. We describe a patient with a severe form of the disease, review the features of another 24 patients, and discuss the previous classification. The diVerences between the two groups are not striking, and although similarities are greater between a...

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