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Brittle bone disease (osteogenesis imperfecta): a rare condition
Pan African Medical Journal, 2022 Osteogenesis imperfecta is a rare genetic disorder also known as a brittle bone disease with a prevalence of 1 in 10,000 the common clinical features of the disease include hearing loss, blue sclera, white eyes, and short stature other severe complications may include pulmonary valve insufficiency.
Prasad Pramod Dhage +1 more
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A Rare Case of Vanishing Bone Disease of Metacarpals [PDF]
JOURNAL OF ORTHOPAEDIC CASE REPORTS, 2021 Introduction: Vanishing bone disease is rare phenomenon of idiopathic origin that leads to extensive osteolysis of bone. Prognosis of disease is unpredictable and definitive guidelines for management are still unknown. The vanishing bone disease has been reported for multiple other bones, however, this probably is the 1st time that vanishing bone ...
Kamble, Prashant +3 more
openaire +2 more sources
High-dimensional functional phenotyping of preclinical human CAR T cells using mass cytometry
STAR Protocols, 2022 Summary: Here, we present a comprehensive protocol for the generation and functional characterization of chimeric antigen receptor (CAR) T cells and their products by mass cytometry in a reproducible and scalable manner. We describe the production of CAR
Ilaria M. Michelozzi +5 more
doaj +1 more source
Liquid Biopsy in Rare Cancers: Lessons from Hemangiopericytoma [PDF]
, 2018 Hemangiopericytoma (HPT) is a rare mesenchymal tumor of fibroblastic type and for its rarity is poorly studied. The most common sites of metastatic disease in patients with intracranial HPT are the bone, liver, and lung, suggestive for an hematogenous ...
Carpino, Guido +9 more
core +3 more sources
Current Oncology, 2022 Multiple myeloma is an incurable malignancy that initiates from a bone marrow resident clonal plasma cell and acquires successive mutational changes and genomic alterations, eventually resulting in tumor burden accumulation and end-organ damage.
Libere J. Ndacayisaba +20 more
doaj +1 more source
Vanishing (Disappearing) Bone Disease in children: a review [PDF]
, 2011 Vanishing bone disease is a very rare, peculiar destructive condition of the skeletal system resulting in spontaneous and progressive resorption and disappearance of osseous structures with replacement by vascular, fibrous connective tissue.
Nagaveni, N.B. +3 more
core +1 more source
Nephrolithiasis, kidney failure and bone disorders in Dent disease patients with and without CLCN5 mutations [PDF]
, 2015 open9noDent disease (DD) is a rare X-linked recessive renal tubulopathy characterised by low-molecular-weight proteinuria (LMWP), hypercalciuria, nephrocalcinosis and/or nephrolithiasis. DD is caused by mutations in both the CLCN5 and OCRL genes.
Angela D’Angelo +9 more
core +2 more sources
Frontiers in Endocrinology, 2020 A 24-year old man was referred to the Erasmus MC Bone Center because of an asymptomatic increasing skull defect of the left parietal bone. The defect was first noticed at the age of six, and gradually increased over the years.
Catherine E. de Keyser +3 more
doaj +1 more source
Genetic association study of UCMA/GRP and OPTN genes (PDB6 locus) with Paget's disease of bone [PDF]
, 2012 We performed a genetic association study of rare variants and single nucleotide polymorphisms (SNPs) of UCMA/GRP and OPTN genes, in French-Canadian patients with Paget's disease of bone (PDB) and in healthy controls from the same population.
Albagha +41 more
core +1 more source
JBMRPlus: Special Issue on Rare Bone Diseases 2019 [PDF]
JBMR Plus, 2019 Rare genetic diseases are rare because the genes mutated in, and responsible for, these disorders are poorly tolerated developmentally and physiologically. Selection against these changes thus makes these mutations rare in the population, but also identifies the corresponding genes as critical to cell function and organism well being and growth.
Eileen M. Shore, Maurizio Pacifici
openaire +3 more sources