نتایج جستجو برای: osteopetrosis

تعداد نتایج: 905  

Journal: :International Journal of Contemporary Pediatrics 2023

Osteopetrosis, or marble bone disease, is a rare genetic metabolic disease initially described by Albers-Schönberg in 1904. Osteopetrosis includes clinically heterogeneous group of conditions characterized increased density due to defect resorption osteoclasts. The osteoclasto-genesis as well the osteoclastic activity may be distorted. Clinical symptoms osteopetrosis vary greatly their presenta...

قدم لی, پرویز ,

Osteopetrosis is a rare metabolic bone disease characterized by generalized increase in skeletal mass. About 500 cases have been described in the literature. This disorder presents. In one of three forms: Osteopetosis Tarda , Osreopetrosis Congenital and “marble bone” disease. Osteopetrosis congentia results in bone marrow failur and is almost always fatal. Marble bone disease causes short st...

2016
Yuwei Zhang Decai Chen Fang Zhang Qingguo Lv Lizhi Tang Nanwei Tong

Objective: To investigate the genetic pathogenesis and diagnosis of osteopetrosis, and its relationship with schizophrenia. Methods: Conducting extensive review of literature related to osteopetrosis patients with schizophrenia, summing common disease genes and diagnosis of osteopetrosis in association with schizophrenia. Results and Conclusion: Osteopetrosis is a rare inherited metabolic bone ...

Journal: :The Tohoku journal of experimental medicine 2013
Tao Huang Qingwei Liang Hao Qian Xiucheng Li Chunping Zou

Osteopetrosis is a rare, inherited disease characterized by dense and brittle bones, and it is associated with an increased risk of femoral fractures. However, the surgical treatment of the fracture patients with osteopetrosis is a subject of controversy, because it is difficult to compare the treatment effects between surgical treatment and conservative treatment in part due to the rarity of s...

2011
Anita Balan KL Girija P Ranimol

Osteopetrosis is a rare genetic disorder that causes generalized sclerosis of bone due to a defect in bone resorption and remodeling. It is usually manifesting in two basic forms: An autosomal dominant benign form (osteopetrosis tarda) and an autosomal recessive malignant form (osteopetrosis congenita). A third form, the intermediate recessive type, has also been reported. Dental abnormality ma...

2010
Usha Rehani Vivek K Adlakha Preetika Chandna Abhay Agarwal Vivek Rana Pooja Malik

Osteopetrosis is a rare metabolic disease.(1) Dental abnormalities may be attributed to the pathological changes in osteopetrosis. Patients with osteopetrosis are especially susceptible to osteomyelitis of mandible.(1) A 13-year-old girl presented with complaint of jaw swelling on left side. The radiograph of left mandible (lateral oblique view) showed small sequestrum with irregularity and ero...

2016
Tamer Ahmed EL-Sobky Ezzat Elsobky Ismaiel Sadek Solaf M. Elsayed Mohamed Fawzy Khattab

BACKGROUND Osteopetrosis is a rare hereditary metabolic bone disorder characterized by generalized skeletal sclerosis caused by a defect in bone resorption and remodelling. Infantile autosomal recessive osteopetrosis is one of three subtypes of osteopetrosis and the most severe form. The correct and early diagnosis of infantile osteopetrosis is important for management of complications and for ...

2017

Osteopetrosis also known as Albers-Schonberg disease or marble bone disease is a rare genetic metabolic bone disorder characterized by a marked increase in bone density caused by a defect in bone remodeling due to failure of normal osteoclast function. It is classified into three forms: Infantile malignant autosomal recessive osteopetrosis, intermediate osteopetrosis and autosomal dominant (AD)...

2011
Sreekala Sreehari Divya Rani Naik Malini Eapen

Normocytic anaemia is caused either by hypoproliferation of haemopoietic tissue or increased destruction of red cells. Osteopetrosis is a rare cause of anaemia. Infantile osteopetrosis (also called malignant osteopetrosis) is diagnosed early in life. But it is the adult osteopetrosis (also called benign osteopetrosis) which is diagnosed in late adolescence or adulthood that present as anaemia w...

Journal: :Journal of virology 1986
H L Robinson S S Reinsch P R Shank

Avian leukosis virus (ALV)-induced osteopetrosis is associated with the accumulation of unintegrated viral DNA in osteoblasts. Viruses constructed from the DNAs of an osteopetrosis-inducing ALV (Br21) and a non-osteopetrosis-inducing ALV (RAV-0) have been used to test for the role of viral genes in the induction of osteopetrosis. Our results map osteopetrotic potential to a 1,400-base-pair regi...

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