Cherubism

12/01/2014 - "Studies on the mouse model for cherubism carrying a P416R knock-in (KI) mutation have revealed that mutant SH3BP2 enhances tumor necrosis factor (TNF)-α production and receptor activator of nuclear factor-κB ligand (RANKL)-induced osteoclast differentiation in myeloid cells. "
09/25/2014 - "Studies of cherubism mice showed that tumor necrosis factor α (TNF-α)-dependent autoinflammation is a major cause of the disorder but failed to explain why human cherubism lesions are restricted to jaws and regress after puberty. "
01/01/2013 - "Anti-tumor necrosis factor treatment in cherubism--clinical, radiological and histological findings in two children."
01/01/2014 - "We identified a critical role of tumor necrosis factor α (TNF-α) in the development of autoinflammation by creating homozygous TNF-α-deficient cherubism mutants, in which systemic inflammation and bone destruction were rescued. "
01/12/2007 - "We demonstrate that Sh3bp2 "cherubism" mice exhibit trabecular bone loss, TNF-alpha-dependent systemic inflammation, and cortical bone erosion. "

11/01/1998 - "To establish whether the multinucleate cells in lesions of patients with cherubism are also osteoclasts and if this is the case whether they were responsive to calcitonin; to carry out cytogenetic studies on two members of the same family affected by cherubism in an attempt to identify any major chromosomal defects; and to perform an in-depth modern biochemical study of four children in the same family. "
08/01/2011 - "In the present report, a 14-year-old boy with cherubism who had intra-osseous cherubic lesions in his mandible was treated with an administration of 200 IU systemic calcitonin every other day via his nasal passage for duration of more than two years. "
08/01/2011 - "However, fewer reports have been presented in regard to calcitonin administration for cherubism. "
08/01/2007 - "Cherubism treated with calcitonin: report of a case."
01/01/2011 - "Clinical and surgical management of an aggressive cherubism treated with autogenous bone graft and calcitonin."

07/01/2014 - "The mutation was a 1244 G>A transversion which resulted in an amino acid substitution from arginine to glutamine (p.Arg415Gln) in exon 9. The present study emphasized the importance of further clinical and molecular investigation even when only a single case of cherubism is identified within a family. "
09/01/2011 - "Here we showed the effect of the proline to arginine substitution of 3BP2 in which is the most common mutation in patients with cherubism (P418R) on B-cell receptor signaling. "

07/01/2003 - "Immunohistochemical study with a panel of antibodies including vacuolar H+-ATPase (V-ATPase), carbonic anhydrase II (CA II), Cathepsin K, matrix metalloproteinases-9 (MMP-9), CD68, and proliferating cell nuclear antigen (PCNA), and enzyme histochemical staining for tartarate-resistant acid phosphatase (TRAP) were applied on a total number of 53 cases of giant cell-containing lesions including CGCG (n = 34), PGCG (n = 6), cherubism (n = 7), and ABC (n = 6). "
06/01/2005 - "The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic short stature, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with mental retardation, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05). "

07/01/2003 - "Immunohistochemical study with a panel of antibodies including vacuolar H+-ATPase (V-ATPase), carbonic anhydrase II (CA II), Cathepsin K, matrix metalloproteinases-9 (MMP-9), CD68, and proliferating cell nuclear antigen (PCNA), and enzyme histochemical staining for tartarate-resistant acid phosphatase (TRAP) were applied on a total number of 53 cases of giant cell-containing lesions including CGCG (n = 34), PGCG (n = 6), cherubism (n = 7), and ABC (n = 6). "

07/01/2003 - "Immunohistochemical study with a panel of antibodies including vacuolar H+-ATPase (V-ATPase), carbonic anhydrase II (CA II), Cathepsin K, matrix metalloproteinases-9 (MMP-9), CD68, and proliferating cell nuclear antigen (PCNA), and enzyme histochemical staining for tartarate-resistant acid phosphatase (TRAP) were applied on a total number of 53 cases of giant cell-containing lesions including CGCG (n = 34), PGCG (n = 6), cherubism (n = 7), and ABC (n = 6). "

07/01/2003 - "Immunohistochemical study with a panel of antibodies including vacuolar H+-ATPase (V-ATPase), carbonic anhydrase II (CA II), Cathepsin K, matrix metalloproteinases-9 (MMP-9), CD68, and proliferating cell nuclear antigen (PCNA), and enzyme histochemical staining for tartarate-resistant acid phosphatase (TRAP) were applied on a total number of 53 cases of giant cell-containing lesions including CGCG (n = 34), PGCG (n = 6), cherubism (n = 7), and ABC (n = 6). "

07/01/2003 - "Immunohistochemical study with a panel of antibodies including vacuolar H+-ATPase (V-ATPase), carbonic anhydrase II (CA II), Cathepsin K, matrix metalloproteinases-9 (MMP-9), CD68, and proliferating cell nuclear antigen (PCNA), and enzyme histochemical staining for tartarate-resistant acid phosphatase (TRAP) were applied on a total number of 53 cases of giant cell-containing lesions including CGCG (n = 34), PGCG (n = 6), cherubism (n = 7), and ABC (n = 6). "

07/01/2014 - "The mutation was a 1244 G>A transversion which resulted in an amino acid substitution from arginine to glutamine (p.Arg415Gln) in exon 9. The present study emphasized the importance of further clinical and molecular investigation even when only a single case of cherubism is identified within a family. "

07/01/2003 - "Immunohistochemical study with a panel of antibodies including vacuolar H+-ATPase (V-ATPase), carbonic anhydrase II (CA II), Cathepsin K, matrix metalloproteinases-9 (MMP-9), CD68, and proliferating cell nuclear antigen (PCNA), and enzyme histochemical staining for tartarate-resistant acid phosphatase (TRAP) were applied on a total number of 53 cases of giant cell-containing lesions including CGCG (n = 34), PGCG (n = 6), cherubism (n = 7), and ABC (n = 6). "

09/01/2013 - "This report highlights the benefit of medical hypnosis in facilitating CPAP acceptance as well as the efficacy of mouthpiece ventilation in a severe form of cherubism with complete nasal obstruction."
09/01/2013 - "Nocturnal mouthpiece ventilation and medical hypnosis to treat severe obstructive sleep apnea in a child with cherubism."

05/01/2015 - "Several treatment protocols for cherubism have been recommended in the literature; however, despite surgical curettage treatment, recurrences may occur. "
06/01/2007 - "Although cherubism tends to abate by the fourth decade of life, early 2-stage surgical curettage provides a simple and reliable treatment that not only delivers immediate results, but also seems to arrest the growth of any remaining cherubic tissue."
06/01/2005 - "Of these, no treatment was carried out in five cases, cherubism resolved (three cases) or grew slowly (two cases); curettage or surgical contouring was performed in seven cases, during the rapid growth of the lesions. "
07/01/1967 - "Cherubism treated by curettage and autogenous bone chips: report of case."
11/01/2007 - "Histologically identical lesions occur in patients with known genetic defects such as cherubism, Noonan syndrome, or neurofibromatosis type 1. Surgical curettage or, in aggressive lesions, resection, is the most common therapy. "

01/01/2014 - "The 18-month follow-up showed good bone condition that suggests graft interventions and implant treatment as a good treatment modality for patients with cherubism. "
04/01/1985 - "We had the chance to operate on a 5-year-old boy with cherubism 8 years ago, and used homogenous bone grafts to replace the diseased tissue to avoid pathological fracture of the mandible. "
08/01/1978 - "Homogenous bone grafts were used in 20 cases including cysts, nonunions, an open bite, an ameloblastoma, fibrous dysplasia, and cherubism. "
01/01/2011 - "Clinical and surgical management of an aggressive cherubism treated with autogenous bone graft and calcitonin."

02/01/2011 - "Orthognathic surgery in cherubism."

03/01/2009 - "Familial cherubism: the experience of the Moscow Central Institute for Stomatology and Maxillo-Facial Surgery."