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Durussel John -- Bone Mineralization Dependent Craniosynostosis and Craniofacial Shape Abnormalities.Pdf 4/15/2016 Infant with craniosynostosis CRANIOSYNOSTOSIS • Premature fusion of cranial bones ANALYSIS OF CRANIOFACIAL • 1/2500 live births MORPHOLOGY IN A TNAP KNOCKOUT • May involve one or multiple sutures • Isolated (85%) or Syndromic (15%) MOUSE MODEL • Biologic process unknown • Elevated intracranial pressure John DuRussel MS, DDS, MS • Impaired cerebral blood flow • Airway obstruction • Deafness, blindness, seizures • Developmental delay and learning disabilities • Esthetic compromises CURRENT TREAMENT: CRANIAL VAULT REMODELING SURGERY HYPOPHOSPHATASIA (HPP) • Deficiency of Tissue Non-specific Alkaline Phosphatase (TNAP) • Disrupted mineralization of the skeleton and dentition (weak bones and teeth) • Seizures due to poor Vitamin B metabolism • Craniosynostosis in the context of low bone density (40% of patients) • Death (respiratory dysfunction due to weak rib bones) • Excise prematurely fused sutures and correct calvarial deformities • Initial surgery at 3-6 months old to allow for exponential brain growth ENPP1 AND TNAP CONTROL MINERALIZATION ENPP1 AND TNAP CONTROL MINERALIZATION • Ectonucleotide pyrophosphatase/phosphodiesterase-1 • Tissue non-specific alkaline phosphatase (TNAP) (Enpp1) - the primary osteoblastic generator of hydrolyzes PPi to Pi which is essential to the growth of pyrophosphate (PPi) hydroxyapatite crystals. ATP Enpp1 PPi ATP Enpp1 PPi TNAP Pi Matrix Matrix Osteoblast Osteoblast 1 4/15/2016 Qualitative Craniofacial Phenotype of the ENPP1 AND TNAP CONTROL MINERALIZATION TNAP-/- Mouse Model of Infantile Hypoposphatasia Deposition of calcium -/- WT TNAP WT WT pyrophosphate ? dihydrate crystals Low bone density KO KO ATP Enpp1 PPi TNAP Pi Matrix • shape abnormalities • hypomineralization • craniosynostosis Open cranial suture in P20 wild type mouse * Fused/closed cranial suture in TNAP KO mouse Osteoblast 2D Shape Abnormalities TNAP Enzyme Replacement Therapy in TNAP-/- Mouse Model of Infantile Hypoposphatasia Current regimen Revised earlier 2D linear craniofacial measurements (digital calipers) of TNAP enzyme regimen Hypophosphatasia replacement therapy of TNAP therapy survival Age = P15 strong bones KO strong teeth • brachycephalic normal skull • acrocephalic • dome shaped Age = P20 Surgeries to alleviate craniosynostosis WT = white KO = black Whyte et. al., 2012 SPECIFIC AIMS HYPOTHESES 1. Determine if TNAP-/- mice exhibit craniofacial morphologic abnormalities similar to those seen in patients with infantile hypophosphatasia (TNAP • TNAP-/- mice have craniofacial skeletal shape anomalies deficiency) similar to those seen in human infants with • Genotype comparison hypophosphatasia • HPP long bone phenotype subset comparison • TNAP-/- mice have an increased incidence of 2. Establish the timing of onset of craniosynostosis in craniosynostosis the TNAP-/- mouse model of infantile hypophosphatasia 2 4/15/2016 SAMPLE Mouse Paw WTPhenotype Criteria WT • Mixed genetic background • Age Slight Slight • 15 day old (P15) METHODS • 20 day old (P20) • Genotype Severe Severe • TNAP-/- • Wild type • TNAP-/- Clinical Phenotype • Normal, slight, moderate, severe MICRO-COMPUTED TOMOGRAPHY (MICRO-CT) CORONAL SUTURE FUSION ASSESSMENT • Whole dissected calvaria • Skulls scanned at 18 micron resolution • Coronal sutures viewed on two-dimensional slices of micro-CT scans • Verified by visualization under a dissecting microscope • Three dimensional images reconstructed at 18 cubic • Comparison between TNAP-/- and Wild Type mice micron effective voxel size • Craniosynostosis assessment • Craniofacial shape assessment TNAP-/- TNAP-/- P15 (n=24) P20 (n=32) (n=48) Wild Type (n=71) Wild Type (n=24) (n=39) 3D MORPHOMETRIC CRANIOFACIAL CORONAL SUTURE FUSION ASSESSMENT ANALYSIS • Pre-established 3D landmarks utilized to analyze differences in craniofacial form, shape, and growth with micro-CT imaging and Dolphin 3 4/15/2016 MORPHOMETRIC CRANIOFACIAL ANALYSIS MORPHOMETRIC CRANIOFACIAL ANALYSIS BY 3D LINEAR ANALYSIS BY EUCLIDEAN DISTANCE MATRIX ANALYSIS Linear Measurement Landmarks • Linear Distance Analysis (Dolphin) Nasal Length 1-2 Frontal Bone 2-3 Parietal Bone 3-4 Interparietal Bone 4-5 Anterior Cranial Vault Width 18-19 Posterior Cranial Vault Width 24-25 Palatal Width 20-21 Posterior Palate to 33-29 Intersphenoidal Suture Basiphenoid Bone 29-30 • Allows for quantification and comparison of 3D form (size and Basioccipital Bone 30-31 shape), shape and growth differences between sample groups Foramen Magnum Diameter 31-32 Intersphenoidal Suture to 29-1 • Uses x, y, z landmark coordinate data (Dolphin) for statistical Nasale comparison of linear distances between every landmark placed as Cranial Vault Height 29-3 ratios between groups Cranial Vault Height 29-4 Cranial Vault Height 30-3 Cranial Vault Height 30-4 Richtsmeier and Lele, 2001 Cranial Vault Height 30-5 TNAP-/- AND TNAP+/+ MICE NORMALIZATION OF 3D LINEAR GROUPING BY PHENOTYPE MEASUREMENTS FOR 3D MORPHOLOGICAL ANALYSIS Wild Type Wild Type (n=18) (n=18) Normal Normal (n=6) (n=6) P15 Slight P20 Slight (n=42) (n=6) (n=42) (n=10) Moderate Moderate (n=6) (n=1) Severe Severe (n=6) (n=7) STATISTICS • Rater reliability tests for 3D landmark placement • Fischer’s exact test—coronal suture fusion assessment • EDMA – form, shape, growth RESULTS • Mixed model pairwise comparison with Tukey’s test— comparison between genotypes and across phenotypes with combined information from all linear distances (normalized measurements) • Principle Component Analysis—summarize all linear measurements by the most contributory variables (normalized measurements) 4 4/15/2016 Craniosynostosis Assessment with Micro-CT EUCLIDEAN DISTANCE MATRIX ANALYSIS: SIGNIFICANT FORM DIFFERENCES Group Comparisons p values P15 Wild Type vs. TNAP-/- Mice < 0.001 P15 Wild Type vs. Severe TNAP-/- Phenotype < 0.001 TNAP+/+ TNAP-/- TNAP+/+ TNAP-/- P20 Wild Type vs. TNAP-/- Mice < 0.001 P20 Wild Type vs. Severe TNAP-/- Phenotype < 0.001 P15 Wild Type vs. Slight TNAP-/- Phenotype 0.013 α = 0.05 • Significant form difference between genotypes at both 2 and 3 weeks old -/- • Significant form difference between phenotypes at both 2 and 3 weeks old Coronal suture synostosis in ~34% of 20 day TNAP mice • Severe phenotype vs. wild type – significant differences • Other phenotypes vs. wild type – not statistically different, other than that shown EUCLIDEAN DISTANCE MATRIX ANALYSIS: EUCLIDEAN DISTANCE MATRIX ANALYSIS— SIGNIFICANT SIZE AND SHAPE DIFFERENCES SIGNIFICANT GROWTH DIFFERENCES Group Comparisons Confidence Interval— Confidence Interval— Size Shape Upper Lower Upper Lower 15-20 Day Group Comparisons p value -/- P15 WT vs. TNAP-/- 0.488 0.190 0.300 0.104 WT vs. TNAP < 0.001 -/- P15 WT vs. Severe TNAP-/- 1.155 0.801 0.671 0.483 WT vs. Severe TNAP < 0.001 α = 0.05 P20 WT vs. TNAP-/- 1.057 0.588 0.319 0.163 P20 WT vs. Severe TNAP-/- 1.791 1.635 0.660 0.589 *Statistically significant if confidence intervals do not cross zero; α = 0.01 or the 99% confidence interval • Significant growth pattern difference between genotypes from two to three weeks of age • Significant size and shape difference between genotypes at both 2 and 3 weeks • Significant growth pattern difference between wild type mice and • Significant size and shape difference between wild type mice and the severe -/- TNAP-/- phenotype at both 2 and 3 weeks old the severe TNAP phenotype from two to three weeks of age MIXED MODEL PAIRWISE COMPARISON OF EDMA SUMMARY 3D CRANIOFACIAL LINEAR DISTANCES BY GENOTYPE • Significant difference in form, size, and shape between genotypes at both two and three weeks of age 15 day old Wild Type vs. TNAP-/- • Significant difference in form, size, and shape between Wild Type 3D Linear Measure Difference p value • Significantly shorter frontal -/- mice and the Severe TNAP subset at both two and three weeks bone length of age Frontal bone length -0.19 mm 0.04 • Significantly larger skull Skull width 0.19 mm 0.06 • Significant difference in the growth pattern from two to three width and height weeks of age between the genotypes Skull height 0.20 mm 0.02 α = 0.05 • Significant difference in the growth pattern from two to three weeks of age between the Wild Type mice and the Severe TNAP-/- subset 20 day old Wild Type vs. TNAP-/- 3D Linear Measure Difference p value • Significantly shorter frontal Frontal bone length -0.40 mm < 0.01 bone length α = 0.05 5 4/15/2016 MIXED MODEL PAIRWISE COMPARISON OF CRANIOFACIAL LINEAR DISTANCES BY PHENOTYPE—15 DAYS OLD 15 day old Wild Type vs. Severe TNAP-/- Subset 3D Linear Measure Difference p value Nasale-anterior 0.67 mm < 0.01 frontal bone Frontal bone length -1.00 mm < 0.01 Skull height 0.31 mm 0.01 Skull height 0.31 mm < 0.01 Skull height 0.36 mm < 0.01 α = 0.05 • Significantly shorter frontal bone length • Significantly larger skull height dimensions MIXED MODEL PAIRWISE COMPARISON OF MIXED MODEL COMPARISON OF 3D LINEAR CRANIOFACIAL LINEAR DISTANCES DISTANCES SUMMARY BY PHENOTYPE—20 DAYS OLD • Significantly shorter frontal bone length, larger skull height, and 20 day old Wild Type vs. Severe TNAP-/- Subset larger skull width between genotypes at two weeks of age 3D Linear Measure Difference p value • Two-fold decrease in average frontal bone length difference Nasale-anterior 0.94 mm < 0.01 between genotypes from two to three weeks of age frontal bone • Loss of significant difference for skull width and height measures Frontal bone length -1.34 mm < 0.01 between genotypes at three weeks of age Skull height 0.34 mm < 0.01 • Significantly shorter frontal bone length and larger skull height Skull
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