Results 11 to 20 of about 581,861 (308)
The Osteocyte as the New Discovery of Therapeutic Options in Rare Bone Diseases
Frontiers in Endocrinology, 2020 Osteocytes are the most abundant (~95%) cells in bone with the longest half-life (~25 years) in humans. In the past osteocytes have been regarded as vestigial cells in bone, since they are buried inside the tough bone matrix.
Janak L. Pathak +3 more
doaj +1 more source
Swiss Medical Weekly, 2020 BACKGROUND This report describes a new strategy for the care of patients with osteogenesis imperfecta, based on an interdisciplinary team working.
Bérengère Aubry-Rozier +10 more
doaj +1 more source
Temporal bone manifestation of primary extranodal Rosai–Dorfman disease: a case report
Journal of Medical Case Reports, 2023 Background Rosai–Dorfman disease is a rare benign histiocytic disorder characterized in most cases by painless cervical adenopathy. Less than 10% of extranodal cases involve bony lesions. Primary bone Rosai–Dorfman disease in the absence of nodal disease
E. Koonar +3 more
doaj +1 more source
Clinical profiles of treated and untreated adults with hypophosphatasia in the Global HPP Registry
Orphanet Journal of Rare Diseases, 2022 Background The clinical signs and symptoms of hypophosphatasia (HPP) can manifest during any stage of life. The age at which a patient’s symptoms are reported can impact access to targeted treatment with enzyme replacement therapy (asfotase alfa), as ...
Kathryn M. Dahir +9 more
doaj +1 more source
A rare case of metabolic bone disease [PDF]
Annals of Clinical Biochemistry: International Journal of Laboratory Medicine, 2007 A 26-year-old female overseas student was admitted to hospital with a fracture of her left humerus following minimal trauma. Biochemical abnormalities included hypercalcaemia, hypophosphataemia, raised alkaline phosphatase, raised parathyroid hormone and undetectable 25-hydroxy-vitamin D.
Srivastava, Rajeev +2 more
openaire +3 more sources
Clinical Case Reports, 2021 Cleidocranial dysplasia is a rare disease with an autosomal‐dominant inheritance that mainly affects the bones of the axial skeleton. In this report, we discuss the clinical and radiological signs of a case series comprising three sisters and the son of ...
Javier Ignacio Segovia‐Fuentes +5 more
doaj +1 more source
Aplastic Crisis as Primary Manifestation of Systemic Lupus Erythematosus [PDF]
, 2011 Aplastic crisis is an unusual feature of systemic lupus erythematosus (SLE). We report the case of a 54-year-old woman presenting with both (extravascular) Coombs-positive hemolytic anemia and laboratory findings of bone marrow hyporegeneration with ...
Alger M +23 more
core +1 more source
Bone dynamics and inflammation: lessons from rare diseases [PDF]
Immunological Medicine, 2020 The adaptor protein 3BP2 (SH3-domain binding protein 2), which is encoded by the SH3BP2 locus, nucleates a signaling complex comprising ABL, SRC, VAV, and SYK, and facilitates an open active configuration of these proteins, leading to their kinase activation.
Yoshinori Matsumoto, Robert Rottapel
openaire +3 more sources
A case report of Parry Romberg Syndrome initially presenting as periodontitis [PDF]
, 2018 Parry Romberg Syndrome (PRS) is a rare disorder of progressive hemifacial atrophy, involving soft tissues, fat and occasionally bone. It can co-exist with presentations of Morphea.
Bramley +14 more
core +1 more source
Extra medullar Granulocytic sarcoma: a case report of an exceptional localization [PDF]
, 2020 Granulocytic sarcoma is a rare type of tumor composed of extramedullary immature cells. The breast location is very rare; it accounts for less than 8% of cases.
Khaled, Rahal +5 more
core +2 more sources