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About 1,386 results

ALLMedicine Osteopetrosis Center

Research & Reviews  685 results

Surgical Treatment for Severe Fixed Hyperkyphosis in an Adult Patient Suffering From An...
https://doi.org/10.1097/BSD.0000000000001011
Clinical Spine Surgery; Wolfram JM, Zitt E et. al.

May 21st, 2020 - Ankylosing spondylitis and hereditary hypophosphatemia with long-term high dose supplementation of phosphorous and calcitriol can both lead to severe structural abnormalities of the vertebrae. Impairment of spinal mobility and spinal deformity may...

Hangman fracture in a child with osteopetrosis: a case report.
https://doi.org/10.1016/j.wneu.2020.04.137
World Neurosurgery; Shah A, Dandpat S et. al.

Apr 29th, 2020 - We report a rare case of Hangman's fracture in a 7 year- old male child with osteopetrosis. The patient presented with neck pain, restriction of neck movements and quadriparesis following a fall while playing at home. Investigations revealed fract...

Skeletal Changes Following Hematopoietic Stem Cell Transplantation in Osteopetrosis.
https://doi.org/10.1002/jbmr.4037
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research; Shapiro G, Fishleder J et. al.

Apr 23rd, 2020 - Osteopetrosis is a rare skeletal dysplasia resulting from an osteoclast defect leading to increased bone mass and density. Hematopoietic stem cell transplantation can rescue the disease phenotype and prevent complications. However, little is known...

Massive osteopetrosis caused by non-functional osteoclasts in R51Q SNX10 mutant mice.
https://doi.org/10.1016/j.bone.2020.115360
Bone Stein M, Barnea-Zohar M et. al.

Apr 11th, 2020 - The R51Q mutation in sorting nexin 10 (SNX10) was shown to cause a lethal genetic disease in humans, namely autosomal recessive osteopetrosis (ARO). We describe here the first R51Q SNX10 knock-in mouse model and show that mice homozygous for this ...

Osteopetrosis-Associated Transmembrane Protein 1 Recruits RNA Exosome To Restrict Hepat...
https://doi.org/10.1128/JVI.01800-19
Journal of Virology; Ma C, Xu W et. al.

Mar 19th, 2020 - Hepatitis B virus (HBV) chronically infects approximately 350 million people worldwide, and 600,000 deaths are caused by HBV-related hepatic failure, liver cirrhosis, and hepatocellular carcinoma annually. It is important to reveal the mechanism u...

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Drugs  2 results see all →

Clinicaltrials.gov  695 results

Surgical Treatment for Severe Fixed Hyperkyphosis in an Adult Patient Suffering From An...
https://doi.org/10.1097/BSD.0000000000001011
Clinical Spine Surgery; Wolfram JM, Zitt E et. al.

May 21st, 2020 - Ankylosing spondylitis and hereditary hypophosphatemia with long-term high dose supplementation of phosphorous and calcitriol can both lead to severe structural abnormalities of the vertebrae. Impairment of spinal mobility and spinal deformity may...

Hangman fracture in a child with osteopetrosis: a case report.
https://doi.org/10.1016/j.wneu.2020.04.137
World Neurosurgery; Shah A, Dandpat S et. al.

Apr 29th, 2020 - We report a rare case of Hangman's fracture in a 7 year- old male child with osteopetrosis. The patient presented with neck pain, restriction of neck movements and quadriparesis following a fall while playing at home. Investigations revealed fract...

Skeletal Changes Following Hematopoietic Stem Cell Transplantation in Osteopetrosis.
https://doi.org/10.1002/jbmr.4037
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research; Shapiro G, Fishleder J et. al.

Apr 23rd, 2020 - Osteopetrosis is a rare skeletal dysplasia resulting from an osteoclast defect leading to increased bone mass and density. Hematopoietic stem cell transplantation can rescue the disease phenotype and prevent complications. However, little is known...

Massive osteopetrosis caused by non-functional osteoclasts in R51Q SNX10 mutant mice.
https://doi.org/10.1016/j.bone.2020.115360
Bone Stein M, Barnea-Zohar M et. al.

Apr 11th, 2020 - The R51Q mutation in sorting nexin 10 (SNX10) was shown to cause a lethal genetic disease in humans, namely autosomal recessive osteopetrosis (ARO). We describe here the first R51Q SNX10 knock-in mouse model and show that mice homozygous for this ...

Osteopetrosis-Associated Transmembrane Protein 1 Recruits RNA Exosome To Restrict Hepat...
https://doi.org/10.1128/JVI.01800-19
Journal of Virology; Ma C, Xu W et. al.

Mar 19th, 2020 - Hepatitis B virus (HBV) chronically infects approximately 350 million people worldwide, and 600,000 deaths are caused by HBV-related hepatic failure, liver cirrhosis, and hepatocellular carcinoma annually. It is important to reveal the mechanism u...

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News  4 results

Genetics Underlying Rare Syndrome Identified
https://www.medscape.com/viewarticle/876393

Feb 27th, 2017 - A newly identified severe congenital syndrome of deafness, blindness, albinism, and dense fragile bones can arise when two people, each of whom have a rare, specific form of deafness, have children, according to a report published in the American ...

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

Successful Staged Hip Replacement in Septic Hip Osteoarthritis in Osteopetrosis
https://www.medscape.com/viewarticle/767614

Abstract and Introduction Abstract Background Osteopetrosis is a rare, inherited, bone disorder, characterized by osteosclerosis, obliteration of the medullary cavity and calcified cartilage. The autosomal dominant form is compatible with a normal...

Dual-Energy X-ray Absorptiometry in Osteopetrosis
https://www.medscape.com/viewarticle/410551

Abstract and Introduction We have used dual-energy x-ray absorptiometry (DXA) in evaluation and follow-up of a patient with osteopetrosis, before and after cord blood transplantation. Other methods of follow-up in such cases have been described, b...

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