نتایج جستجو برای: osteopetrosis
تعداد نتایج: 905 فیلتر نتایج به سال:
This study illustrates that Plekhm1 is an essential protein for bone resorption, as loss-of-function mutations were found to underlie the osteopetrotic phenotype of the incisors absent rat as well as an intermediate type of human osteopetrosis. Electron and confocal microscopic analysis demonstrated that monocytes from a patient homozygous for the mutation differentiated into osteoclasts normal...
A 34-year-old woman with a benign form of osteopetrosis developed osteoarthritis of the hip. In order to avoid the difficulties associated with inserting the femoral component of a conventional total hip arthroplasty, a hybrid metal-on-metal resurfacing was performed. There were several technical challenges associated with the procedure, including the sizing of the component, press-fit fixation...
We described the successful allogeneic matched sibling bone marrow transplantation (BMT) in a 5-year-old Thai boy in whom osteopetrosis was diagnosed on the basis of anemia, thrombocytopenia, leukoerythroblastosis, sclerotic bone, hepatosplenomegaly, and visual deficit from an encroachment of cranial nerve foramina. The preparative regimen included 4 days of busulfan 4 mg/kg/day, and 4 days of ...
Gross and microscopic observations on the skeleton of rabbits with hereditary osteopetrosis have been described. All the bones were invariably and similarly affected. The outstanding abnormalities included the persistence of spongy bone and the presence of fibrous tissue together with the failure of development of a marrow cavity and medullary marrow. The amount of hemopoietic tissue, which was...
A 14-year-old who had 7episodes of relapsing unitaleral paralysis of facial nerve during 7 year-;. was admitted to the hospital. The X-Ray revealed Osteopetrosis, and the bone biopsy was proved this diagnosis. But there was not any bone fracture, or anemia. Pressure over facial nerve caused by condensation of entire facial nerve canal. was detected by tomographia. Probablv intermitant facial...
Lysosomes are organelles containing hydrolytic enzymes important for macromolecule degradation. For these acid hydrolases to function, an appropriately low pH must be maintained in the lysosome's lumen. CLC-7 is a lysosomal Cl-/H+ antiporter believed play important, albeit controversial, role acidification. The majority of established defects this protein loss-of-function mutations which cause ...
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