ALLMedicine™ Osteopetrosis Center
Research & Reviews 282 results
https://doi.org/10.1136/bcr-2021-246789
BMJ Case Reports; Chundoo S, McGoldrick DM et. al.
May 14th, 2022 - Osteosclerotic metaphyseal dysplasia (OMD) is an extremely rare form of osteopetrosis, which bears significant clinical similarities to dysosteosclerosis (DSS). We aim to present a rare case of OMD with mandibular swelling and osteomyelitis infect...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8969067
Stem Cells Translational Medicine; Zeytin IC, Alkan B et. al.
Apr 1st, 2022 - Osteopetrosis is a rare inherited disease characterized by impaired osteoclast activity causing defective bone resorption and bone marrow aplasia. It is fatal in early childhood unless hematopoietic stem cell transplantation is performed. But, the...
https://doi.org/10.1016/j.bone.2022.116397
Bone Dudiki T, Nascimento DW et. al.
Mar 29th, 2022 - The cellular and molecular mechanisms of bone development and homeostasis are clinically important, but not fully understood. Mutations in integrins and Kindlin3 in humans known as Leukocyte adhesion deficiencies (LAD) cause a wide spectrum of com...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8975393
The Journal of International Advanced Otology; De Cuyper E, De Cuyper C et. al.
Feb 19th, 2022 - Osteopetrosis, or marble bone disease, is a rare genetic disease of bone resorption. It includes a clinically heterogeneous group of conditions that are characterized by increased bone density on radiographs due to a defect in osteoclasts. A most ...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8867429
Orthopaedic Surgery; Tu Y, Liu FX et. al.
Dec 17th, 2021 - To describe the application of reversed contralateral distal femoral locking compression plate (DF-LCP) inserted through a progressive and intermittent drilling procedure in the treatment of osteopetrotic subtrochanteric fracture (OSF). Three pati...
Drugs 2 results see all →
Clinicaltrials.gov 5 results
https://clinicaltrials.gov/ct2/show/NCT02171104
Nov 5th, 2021 - This single-institution, phase II study is designed to test the ability to achieve donor hematopoietic engraftment while maintaining low rates of transplant-related mortality (TRM) using busulfan- and fludarabine-based conditioning regimens with b...
https://clinicaltrials.gov/ct2/show/NCT04525352
Aug 24th, 2021 - This is a non-randomized Phase 1 study to evaluate the preliminary safety and efficacy of hematopoietic gene therapy consisting of autologous CD34+ enriched hematopoietic cells transduced with the lentiviral vector (LV) carrying the human TCIRG1 t...
https://clinicaltrials.gov/ct2/show/NCT00145587
May 30th, 2017 - The primary objective of this trial will be answered strictly by those patients enrolled who receive a haploidentical stem cell donor graft. Patients with a matched sibling donor will be offered participation in this clinical trial and will receiv...
https://clinicaltrials.gov/ct2/show/NCT00004402
Mar 25th, 2015 - PROTOCOL OUTLINE: This is a randomized, placebo controlled, open label study. Patients are randomized to one of two arms (interferon gamma in combination with calcitriol or calcitriol alone). Arm I: Patients receive calcitriol once daily. Interfer...
https://clinicaltrials.gov/ct2/show/NCT01087398
Jun 4th, 2012 - The purpose of this study is to evaluate the efficacy and side effects of donor hematopoietic cells using chemotherapy regimen without total-body irradiation in children undergoing a hematopoietic stem cell transplant for Malignant infantile osteo...
News 5 results
https://www.staging.medscape.com/viewarticle/879422
May 2nd, 2017 - UPDATED May 4, 2017 // The world's top 10 most expensive drugs are all orphan drugs for rare and ultrarare diseases, according to a new analysis. Leading that pack at number 1 is glycerol phenylbutyrate (Ravicti, Horizon Pharma), an orphan drug ap...
https://www.medscape.com/viewarticle/879422
May 2nd, 2017 - UPDATED May 4, 2017 // The world's top 10 most expensive drugs are all orphan drugs for rare and ultrarare diseases, according to a new analysis. Leading that pack at number 1 is glycerol phenylbutyrate (Ravicti, Horizon Pharma), an orphan drug ap...
https://reference.medscape.com/viewarticle/857143_5
Jan 14th, 2016 - On initial presentation, exclusion of other diseases that result in a similar "bright bone" appearance on radiography is important. The causes of diffuse osteosclerosis include hypervitaminosis D, hypoparathyroidism, myelofibrosis, Paget disease, ...
https://www.mdedge.com/rheumatology/article/101309/transfusion-medicine/hla-matched-sibling-transplants-provide-best
Lucas Franki
Jul 18th, 2015 - Long-term survival after hematopoietic stem cell transplantation for infantile osteopetrosis was highest when grafts were taken from human leukocyte antigen (HLA)-matched siblings, according to the largest cohort of patients with the disease that.
https://www.medscape.com/viewarticle/709818_3
Diagnosis Pyle-type metaphyseal dysplasia (or Pyle's disease) Differential diagnosis: Chronic anemia (e.g. Sickle-cell disease), osteopetrosis, Gaucher disease and Niemann-Pick disease.