About 713 results

ALLMedicine™ Osteopetrosis Center

Research & Reviews  271 results

The Treatment of Subtrochanteric Fracture with Reversed Contralateral Distal Femoral Lo...
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...

Rhabdomyosarcoma of the uterus in an adult patient with osteopetrosis: a case report.
Journal of Medical Case Reports; Aminimoghaddam S, Rahbari A et. al.

Nov 29th, 2021 - Uterine sarcoma accounts for 3-7% of uterine malignant neoplasms. It is more aggressive than epithelial neoplasms, and patients have a poor prognosis. Rhabdomyosarcoma is classified as a heterologous uterine sarcoma. It is the most common soft tis...

Broadening the phenotype of LRRK1 mutations - Features of malignant osteopetrosis and o...
European Journal of Medical Genetics; Chorin O, Chowers G et. al.

Nov 20th, 2021 - Osteosclerotic metaphyseal dysplasia is a rare disorder which features osteosclerosis involving long bones, vertebrae, ribs, clavicles and the iliac crests. Additional features which have variably been reported include developmental delay, short s...

Genetic analysis of osteopetrosis in Pakistani families identifies novel and known sequ...
BMC Medical Genomics; Liu C, Ajmal M et. al.

Nov 11th, 2021 - Osteopetrosis is a genetically heterogenous, fatal bone disorder characterized by increased bone density. Globally, various genetic causes are reported for osteopetrosis with all forms of inheritance patterns. A precise molecular diagnosis is nece...

SLC4A2 Deficiency Causes a New Type of Osteopetrosis.
Journal of Bone and Mineral Research : the Official Journ... Xue JY, Grigelioniene G et. al.

Oct 21st, 2021 - Osteopetrosis is a group of rare inherited skeletal disorders characterized by a marked increase in bone density due to deficient bone resorption. Pathogenic variants in several genes involved in osteoclast differentiation and/or function have bee...

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Drugs  2 results see all →

Clinicaltrials.gov  5 results

ACTIMMUNE in Intermediate Osteopetrosis

Jul 2nd, 2019 - Osteopetrosis is a rare inherited metabolic bone disease characterized by impaired osteoclast function resulting in defective bone resorption and generalized high bone mass and mineral density (BMD). In patients with severe disease, this high bone...

Stem Cell Transplantation for Children Affected With Osteopetrosis

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...

Phase III Randomized Study of Interferon Gamma in Children With Severe, Congenital Osteopetrosis

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...

Hematopoietic Stem Cell Transplantation for Malignant Infantile Osteopetrosis

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...

Post Marketing Surveillance Study of Actimmune in Patients With Severe, Malignant Osteopetrosis

Nov 1st, 2007 - It is made by white blood cells and appears to be involved in regulating the body's ability to fight off infection. Actimmune is a synthetic form of Interferon gamma which is similar to that normally made by white blood cells. IFN-g 1b (Actimmune®...

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News  7 results

The Role of Defibrotide to Inhibit Cell Injury

Apr 2nd, 2021 - Transcript: Sergio A. Giralt, MD: There is another study from Jeffrey Laurence, MD, where he was looking at the potential beneficial effects of defibrotide on markers of endothelial damage. And he did show that defibrotide could protect endoth...

Rare Disease Treatments Make Up Top 10 Most Costly Drugs

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...

Rare Disease Treatments Make Up Top 10 Most Costly Drugs

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...

A 49-Year-Old Man With Pain at the Site of a Previous Fracture

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, ...

HLA-matched sibling transplants provide best outcomes in infantile osteopetrosis
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.

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