Cleft lip and palate

Mossey, Peter; Little, Julian; Munger, Ron; Dixon, Mike J.; Shaw, William C.

doi:10.1016/s0140-6736(09)60695-4

Cited by 1,393 publications

(1,498 citation statements)

References 140 publications

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“…Cleft lip and/or cleft palate is a common oral and facial malformation birth defect with a worldwide incidence of approximately 1.7 per 1000 live births (Mossey, Little, Munger, Dixon, & Shaw, 2009). The current treatment necessitates multiple operations over several years and involves bone harvesting from the iliac crest (hip bone), resulting in donor site morbidity.…”

Section: Introductionmentioning

confidence: 99%

A simple rocker‐induced mechanical stimulus upregulates mineralization by human osteoprogenitor cells in fibrous scaffolds

Puwanun

Delaine-Smith

Colley

et al. 2017

J Tissue Eng Regen Med

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Biodegradable electrospun polycaprolactone scaffolds can be used to support bone‐forming cells and could fill a thin bony defect, such as in cleft palate. Oscillatory fluid flow has been shown to stimulate bone production in human progenitor cells in monolayer culture. The aim of this study was to examine whether bone matrix production by primary human mesenchymal stem cells from bone marrow or jaw periosteal tissue could be stimulated using oscillatory fluid flow supplied by a standard see‐saw rocker. This was investigated for cells in two‐dimensional culture and within electrospun polycaprolactone scaffolds. From day 4 of culture onwards, samples were rocked at 45 cycles/min for 1 h/day, 5 days/week (rocking group). Cell viability, calcium deposition, collagen production, alkaline phosphatase activity and vascular endothelial growth factor secretion were evaluated to assess the ability of the cells to undergo bone differentiation and induce vascularisation. Both cell types produced more mineralized tissue when subjected to rocking and supplemented with dexamethasone. Mesenchymal progenitors and primary human mesenchymal stem cells from bone marrow in three‐dimensional scaffolds upregulated mineral deposition after rocking culture as assessed by micro‐computed tomography and alizarin red staining. Interestingly, vascular endothelial growth factor secretion, which has previously been shown to be mechanically sensitive, was not altered by rocking in this system and was inhibited by dexamethasone. Rocker culture may be a cost effective, simple pretreatment for bone tissue engineering for small defects such as cleft palate.

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Section: Introductionmentioning

confidence: 99%

A simple rocker‐induced mechanical stimulus upregulates mineralization by human osteoprogenitor cells in fibrous scaffolds

Puwanun

Delaine-Smith

Colley

et al. 2017

J Tissue Eng Regen Med

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“…1 CP is a multifactorial disorder influenced by both genetic and environmental factors. 2 Several genes have been found to contribute to CP, 3 but the full spectrum of genes remains largely unknown.…”

Section: Introductionmentioning

confidence: 99%

PDGFRa mutations in humans with isolated cleft palate

et al. 2012

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Isolated cleft palate (CP) is common in humans and has complex genetic etiologies. Many genes have been found to contribute to CP, but the full spectrum of genes remains unknown. PCR-sequencing of the entire coding regions and the 3 0 untranslated region (UTR) of the platelet-derived growth factor receptor alpha (PDGFRa) and the microRNA (miR), miR-140 identified seven novel single base-pair substitutions in the PDGFRa in 9/102 patients with CP (8.8%), compared with 5/500 ethnic-matched unaffected controls (1%) (the two-tailed P-valueo0.0001). Of these seven, four were missense mutations in the coding regions and three in the 3 0 UTR. Frequencies of four changes (three in coding, one in 3 0 UTR) were statistically different from those of controls (P-valueo0.05). The c.*34G4A was identified in 1/102 cases and 0/500 controls. This position is conserved in primates and located 10 bp away from a predicted binding site for the miR-140. Luciferase assay revealed that, in the presence of miR-140, the c.*34G4A significantly repressed luciferase activity compared with that of the wild type, suggesting functional significance of this variant. This is the first study providing evidence supporting a role of PDGFRa in human CP.

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“…The consequences for the infant are a gap or space in the lip or lip and palate which can lead to difficulties with necessary functions such as breathing, feeding, and speech development. CL/P is the most common facial birth defect, occuring in approximately 1 in 700 live births [22]. In spite of the prevalence of this defect, its genesis is still not fully understood.…”

Section: Cleft Lip And/or Palatementioning

confidence: 99%

A New Landmark-Independent Tool for Quantifying and Characterizing Morphologic Variation

Rolfe

Cox

Shapiro

et al. 2014

Lecture Notes in Computer Science

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A New Landmark-Independent Tool for Quantifying and Characterizing Morphologic Variation Sara RolfeChair of the Supervisory Committee:Title of Chair Linda Shapiro Department of ChairAs advances in multi-dimensional imaging are made, there is a growing need for tools that enable quantitative assessment of both embryonic and postnatal structure and form. To this end, this dissertation develops a landmark-independent, deformable-registration based framework for quantifying and characterizing morphologic variation. This framework can utilize 3D surface images generated by any multi-dimensional biomedical imaging modality and provides quantitative assessment of potentially biologically relevant changes in 3D shape whether natural, caused by mutation, or influenced by non-genetic factors. In this work, using different example datasets, the utility and sensitivity of the tools developed in this work are demonstrated: 1) to detect subtle morphological phenotypes in specimens; 2) to quantify morphologic change over a normal developmental time series of embryonic development; and 3) to determine the impact of transient localized genetic manipulation and environmental change on morphogenesis. The development of these tools will assist in defining trajectories of normal growth and help underpin hypotheses as to the developmental basis and the specific role of the causative gene in conditions causing disruptions to normal growth.

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Cleft lip and palate

Cited by 1,393 publications

References 140 publications

A simple rocker‐induced mechanical stimulus upregulates mineralization by human osteoprogenitor cells in fibrous scaffolds

A simple rocker‐induced mechanical stimulus upregulates mineralization by human osteoprogenitor cells in fibrous scaffolds

PDGFRa mutations in humans with isolated cleft palate

A New Landmark-Independent Tool for Quantifying and Characterizing Morphologic Variation

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