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About 1,487 results

ALLMedicine™ Osteopetrosis Center

Research & Reviews  737 results

Identification of novel mutation in RANKL by whole-exome sequencing in a Thai family wi...
https://doi.org/10.1002/mgg3.1727
Molecular Genetics & Genomic Medicine; Lertwilaiwittaya P, Suktitipat B et. al.

May 31st, 2021 - Osteopetrosis is a rare form of skeletal dysplasia characterized by increased bone density that leads to bone marrow failure, compressive neuropathy, and skeletal dysmorphism. Molecular diagnosis is essential as it guides treatment and prognosis. ...

A novel mutation in TNFRSF11A gene causes pediatric osteopetrosis: case report.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8162000
BMC Surgery; Xu Y, Yu X et. al.

May 29th, 2021 - Osteopetrosis is a rare inherited bone disorder affected individual by osteoclast disfunction and increasing bone density. Surgery was taken for histological examination of the specimen and evidence of malignancy was not found. Finally, X-ray and ...

Managing challenging pain and irritability in OSTM1 mutation-related infantile malignan...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8137230
BMJ Case Reports; Alotaibi Q, Dighe M

May 20th, 2021 - Osteopetrosis describes a heterogeneous group of diseases characterised by increased bone density due to impaired osteoclast. The malignant infantile autosomal recessive (MIOP) form caused by mutations in OSTM1 is the most severe form of osteopetr...

Autosomal recessive osteopetrosis: mechanisms and treatments.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8188884
Disease Models & Mechanisms; Penna S, Villa A et. al.

May 10th, 2021 - Autosomal recessive osteopetrosis (ARO) is a severe inherited bone disease characterized by defective osteoclast resorption or differentiation. Clinical manifestations include dense and brittle bones, anemia and progressive nerve compression, whic...

The genotypic and phenotypic spectrum of pycnodysostosis in Saudi Arabia: Novel variant...
https://doi.org/10.1002/ajmg.a.62230
American Journal of Medical Genetics. Part A; Mushiba AM, Faqeih E et. al.

May 8th, 2021 - Pycnodysostosis is characterized by short stature, osteosclerosis, acro-osteolysis, increased tendency of fractures, and distinctive dysmorphic features. It is a rare autosomal recessive disease caused by biallelic CTSK mutations. The clinical det...

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Drugs  2 results see all →

Clinicaltrials.gov  745 results

Identification of novel mutation in RANKL by whole-exome sequencing in a Thai family wi...
https://doi.org/10.1002/mgg3.1727
Molecular Genetics & Genomic Medicine; Lertwilaiwittaya P, Suktitipat B et. al.

May 31st, 2021 - Osteopetrosis is a rare form of skeletal dysplasia characterized by increased bone density that leads to bone marrow failure, compressive neuropathy, and skeletal dysmorphism. Molecular diagnosis is essential as it guides treatment and prognosis. ...

A novel mutation in TNFRSF11A gene causes pediatric osteopetrosis: case report.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8162000
BMC Surgery; Xu Y, Yu X et. al.

May 29th, 2021 - Osteopetrosis is a rare inherited bone disorder affected individual by osteoclast disfunction and increasing bone density. Surgery was taken for histological examination of the specimen and evidence of malignancy was not found. Finally, X-ray and ...

Managing challenging pain and irritability in OSTM1 mutation-related infantile malignan...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8137230
BMJ Case Reports; Alotaibi Q, Dighe M

May 20th, 2021 - Osteopetrosis describes a heterogeneous group of diseases characterised by increased bone density due to impaired osteoclast. The malignant infantile autosomal recessive (MIOP) form caused by mutations in OSTM1 is the most severe form of osteopetr...

Autosomal recessive osteopetrosis: mechanisms and treatments.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8188884
Disease Models & Mechanisms; Penna S, Villa A et. al.

May 10th, 2021 - Autosomal recessive osteopetrosis (ARO) is a severe inherited bone disease characterized by defective osteoclast resorption or differentiation. Clinical manifestations include dense and brittle bones, anemia and progressive nerve compression, whic...

The genotypic and phenotypic spectrum of pycnodysostosis in Saudi Arabia: Novel variant...
https://doi.org/10.1002/ajmg.a.62230
American Journal of Medical Genetics. Part A; Mushiba AM, Faqeih E et. al.

May 8th, 2021 - Pycnodysostosis is characterized by short stature, osteosclerosis, acro-osteolysis, increased tendency of fractures, and distinctive dysmorphic features. It is a rare autosomal recessive disease caused by biallelic CTSK mutations. The clinical det...

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News  3 results

A 49-Year-Old Man With Pain at the Site of a Previous Fracture
https://reference.medscape.com/viewarticle/857143_5

Jan 13th, 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
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.

Pyle-type Metaphyseal Dysplasia
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.

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