Rapidly progressive scoliosis after successful treatment for osteopenia in Costello syndrome

Hou, Jia‐Woei

doi:10.1002/ajmg.a.32121

Cited by 11 publications

(6 citation statements)

References 21 publications

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“…Previous reports have described alkaline phosphatase as mildly elevated, with no finding of a 10-times higher level in patients with Costello syndrome (Hou 2008). We did not perform further tests to discriminate between bone and liver origin of the alkaline phosphatase.…”

Section: Discussioncontrasting

confidence: 48%

Recurring G12S Mutation of HRAS in a Chinese Child with Costello Syndrome with High Alkaline Phosphatase Level

Zhang

2009

Biochem Genet

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Section: Discussioncontrasting

confidence: 48%

Recurring G12S Mutation of HRAS in a Chinese Child with Costello Syndrome with High Alkaline Phosphatase Level

Zhang

2009

Biochem Genet

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“…Congenital disorders bearing phenotypic overlap with NF1, including Noonan syndrome, Noonan-like/multiple giant cell lesion syndrome, LEOPARD syndrome, Costello syndrome, and Cardio-facio-cutaneous syndrome, carry germline mutations within key genes contributing to hyperactivation of the Ras-Raf-Mek-Erk signaling cascade. It is being increasingly recognized that individuals with many of these disorders are predisposed to osteoporosis and spontaneous fractures as well (8,30,31). Here, we report that the OPN mediated gain in OCL functions may be associated with hyperactivation of Erk and Akt.…”

Section: Discussionmentioning

confidence: 78%

Ras Dependent Paracrine Secretion of Osteopontin by Nf1+/− Osteoblasts Promote Osteoclast Activation in a Neurofibromatosis Type I Murine Model

Liu

Zhang

et al. 2009

Pediatr Res

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Neurofibromatosis type 1 (NF1) is a pandemic genetic disorder characterized by malignant and nonmalignant manifestations, including skeletal abnormalities, such as osteoporosis, scoliosis, short stature, and pseudarthrosis. Recent studies in genetically inbred mice and from human patients with NF1 have identified multiple gains in osteoclast (OCL) functions both in vitro and in vivo. Given that osteoblasts secrete cytokines that promote OCL maturation/activation, we sought to identify whether haploinsufficiency of Nf1 (Nf1ϩ/Ϫ) osteoblasts and their precursors secrete cytokines that have a central role in this process. Osteoblast conditioned media (OBCM) from Nf1ϩ/Ϫ osteoblasts promoted OCL migration and bone resorption compared with WT OBCM. Osteopontin (OPN), a matrix protein found in mineralized tissues and pivotal in modulating OCL functions, was present in increased concentrations in Nf1ϩ/Ϫ osteoblasts. Addition of OPN neutralizing antibody to Nf1ϩ/Ϫ OBCM diminished the gain in bioactivity on OCL functions, including OCL migration and bone resorption. Our study identifies an important paracrine loop whereby elevated secretion of OPN by osteoblasts activate Nf1ϩ/Ϫ OCLs that already have an intrinsic propensity for bone resorption leading to osteopenia and osteoporosis. (Pediatr Res 65: 613-618, 2009)

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“… Costello syndrome: 1 Aoki et al [2005], 2 Estep et al [2006], 3 Kerr et al [2006], 4 van Steensel et al [2006]; 5 Zampino et al [2006], 6 van Der Burgt et al [2007], 7 Digilio et al [2007], 8 Limongelli et al [2007], 9 Hou [2008], 10 Lo et al [2008], 11 Piccione et al [2009], 12 Kuniba et al [2009], and 13 Smith et al [2009]. …”

Section: Resultsmentioning

confidence: 99%

Antimicrobial activity of some new 4‐arylazo‐3‐methylthiophene disperse dyes on polyester fabrics

Gafer

Abdel‐Latif

2011

J of Applied Polymer Sci

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A series of novel 4-arylazo-3-methylthiophenes was synthesized by the heterocyclization of 2-arylhydrazono-2-acetyl thioacetanilide derivatives with a variety of a-halogenated reagents, such as chloroacetone, phenacyl bromide, ethyl chloroacetate, and chloroacetonitrile. The structures of the synthesized thiophene derivatives were confirmed by ultraviolet-visible, IR, and 1 H-NMR spectroscopic techniques and elemental analysis.The synthesized dyes were applied to polyester fabrics as disperse dyes, and their fastness properties were evaluated. The dyed polyester fabrics displayed antibacterial efficacy against Gram-positive (Staphylococcus aureus) and Gram-negative (Escherichia coli) bacteria. V C 2011 Wiley Periodicals, Inc. J Appl Polym Sci 122: [83][84][85][86][87][88][89] 2011

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Rapidly progressive scoliosis after successful treatment for osteopenia in Costello syndrome

Cited by 11 publications

References 21 publications

Recurring G12S Mutation of HRAS in a Chinese Child with Costello Syndrome with High Alkaline Phosphatase Level

Recurring G12S Mutation of HRAS in a Chinese Child with Costello Syndrome with High Alkaline Phosphatase Level

Ras Dependent Paracrine Secretion of Osteopontin by Nf1+/− Osteoblasts Promote Osteoclast Activation in a Neurofibromatosis Type I Murine Model

Antimicrobial activity of some new 4‐arylazo‐3‐methylthiophene disperse dyes on polyester fabrics

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