Priorities for public health research on craniosynostosis: Summary and recommendations from a Centers for Disease Control and Prevention‐sponsored meeting

Rasmussen, Sonja A.; Yazdy, Mahsa M.; Frías, Jaime L.; Honein, Margaret A.

doi:10.1002/ajmg.a.32106

Cited by 37 publications

(34 citation statements)

References 81 publications

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“…Continuity of care after discharge is needed for follow-up of the aesthetic and neurodevelopmental outcomes of the child. The Centers for Disease Control and Prevention 40 recommend research into long-term outcomes of surgery for craniosynostosis, health care utilization, psychological adjustment, social relationships, and factors that improve outcomes for families with an affected child. CCN…”

Section: Discussionmentioning

confidence: 99%

Craniosynostosis: Caring for Infants and Their Families

Burokas

2013

Critical Care Nurse

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Craniosynostosis is a developmental anomaly with premature closure of the cranial sutures causing an abnormally shaped skull in an infant. Recommended surgical treatment involves cranial vault reconstruction to open the closed suture, increase intracranial volume, and allow the brain to grow normally. Parents work with a multidisciplinary team during the evaluation process and face various preoperative and postoperative stressors. Critical care nurses can improve the care of the infants and their families by being knowledgeable about the anatomy, assessment, and surgical and nursing management of infants with this anomaly and its impact on the patients’ families. This article discusses the definitions, diagnosis, and treatment of craniosynostosis and support for parents of infants with this malformation.

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Section: Discussionmentioning

confidence: 99%

Craniosynostosis: Caring for Infants and Their Families

Burokas

2013

Critical Care Nurse

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“…ostosis have been identified covering a wide range of molecular functions, suggesting several independent pathologic mechanisms are at work (32).…”

mentioning

confidence: 99%

Transcriptome correlation analysis identifies two unique craniosynostosis subtypes associated with IRS1 activation

Stamper

Mecham

Park

et al. 2012

Physiological Genomics

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. Transcriptome correlation analysis identifies two unique craniosynostosis subtypes associated with IRS1 activation. Physiol Genomics 44: 1154-1163. First published October 16, 2012 doi:10.1152/physiolgenomics.00085.2012The discovery of causal mechanisms associated with nonsyndromic craniosynostosis has proven to be a difficult task due to the complex nature of the disease. In this study, differential transcriptome correlation analysis was used to identify two molecularly distinct subtypes of nonsyndromic craniosynostosis, termed subtype A and subtype B. In addition to unique correlation structure, subtype A was also associated with high IGF pathway expression, whereas subtype B was associated with high integrin expression. To identify a pathologic link between altered gene correlation/expression and the disease state, phosphorylation assays were performed on primary osteoblast cell lines derived from cases within subtype A or subtype B, as well as on primary osteoblast cell lines with novel IGF1R variants previously reported by our lab (Cunningham ML, Horst JA, Rieder MJ, Hing AV, Stanaway IB, Park SS, Samudrala R, Speltz ML. Am J Med Genet A 155A: 91-97, 2011). Elevated IRS1 (pan-tyr) and GSK3␤ (ser-9) phosphorylation were observed in two novel IGF1R variants with receptor L domain mutations. In subtype A, a hypomineralization phenotype coupled with decreased phosphorylation of IRS1 (ser-312), p38 (thr-180/tyr-182), and p70S6K (thr-412) was observed. In subtype B, decreased phosphorylation of IRS1 (ser-312) as well as increased phosphorylation of Akt (ser-473), GSK3␤ (ser-9), IGF1R (tyr-1135/tyr-1136), JNK (thr-183/tyr-187), p70S6K (thr-412), and pRPS6 (ser-235/ser-236) was observed, thus implicating the activation of IRS1-mediated Akt signaling in potentiating craniosynostosis in this subtype. Taken together, these results suggest that despite the stimulation of different pathways, activating phosphorylation patterns for IRS1 were consistent in cell lines from both subtypes and the IGF1R variants, thus implicating a key role for IRS1 in the pathogenesis of nonsyndromic craniosynostosis.

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“…We should focus team approach to solve this problem in near future for public health research and education for craniosynostosis/birth defects and other diseases [14].…”

Section: Resultsmentioning

confidence: 99%

Potential therapeutic Strategies and Its Application in Correcting Birth Defects, Craniosynostosis, Neurological Disorders and Other Diseases

Barik¹

2013

J Metabolic Synd

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Background: Gene Therapy (GT) aims to fix a disease linked with genetic abnormality. Gene Therapy (GT) is currently receiving an attention from scientists, clinicians and the general public in an attempt to correct genetic defects. It including with congenital abnormalities, craniosynostosis (syndromic and nonsyndromic), craniofacial deformity, and neurodevelopmental disorders. However, its application is beset with complications partly because of lack of advanced knowledge, research and partly because of vested interest by the society.

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Priorities for public health research on craniosynostosis: Summary and recommendations from a Centers for Disease Control and Prevention‐sponsored meeting

Cited by 37 publications

References 81 publications

Craniosynostosis: Caring for Infants and Their Families

Craniosynostosis: Caring for Infants and Their Families

Transcriptome correlation analysis identifies two unique craniosynostosis subtypes associated with IRS1 activation

Potential therapeutic Strategies and Its Application in Correcting Birth Defects, Craniosynostosis, Neurological Disorders and Other Diseases

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