A 1q21.1 microdeletion is an extremely rare chromosomal abnormality that results in phenotypic diversity and incomplete penetrance. Patients with a 1q21.1 microdeletion exhibit neurological-psychiatric problems, microcephaly, epilepsy, facial dysmorphism, cataract, and thrombocytopenia absent radius syndrome. We reported a neonate with confirmed intrauterine growth restriction (IUGR), micrognathia, glossoptosis, upper airway obstruction, facial dysmorphism, and eye abnormality at birth as well as developmental delay at the age of 1 year. These clinical manifestations, except for the IUGR and upper airway obstruction, in the neonate indicated a 1q21.1 microdeletion. Here, we report a rare case of a 1q21.1 microdeletion obtained via paternal inheritance in a newborn with upper airway obstruction caused by glossoptosis and tracheal stenosis.
Airway Obstruction* ; Cataract ; Chromosome Aberrations ; Chromosome Deletion ; Epilepsy ; Eye Abnormalities ; Fetal Growth Retardation ; Glossoptosis ; Humans ; Infant, Newborn* ; Microarray Analysis ; Microcephaly ; Micrognathism ; Parturition ; Penetrance ; Radius ; Thrombocytopenia ; Tracheal Stenosis ; Wills

Vitamin D hydroxylation-deficient rickets type 1A (VDDR1A) is an autosomal recessively-inherited disorder caused by mutations in CYP27B1 encoding the 1α-hydroxylase enzyme. We report on a female patient with VDDR1A who presented with hypocalcemic seizure at the age of 13 months. The typical clinical and biochemical features of VDDR1A were found, such as hypocalcemia, increased alkaline phosphatase, secondary hyperparathyroidism and normal 25-hydroxyvitamin D3 (25(OH)D₃). Radiographic images of the wrist showed metaphyseal widening with cupping and fraying of the ulna and distal radius, suggesting rickets. A mutation analysis of the CYP27B1 gene identified a homozygous mutation of c.589+1G>A in the splice donor site in intron 3, which was known to be pathogenic. Since that time, the patient has been under calcitriol and calcium treatment, with normal growth and development. During the follow-up period, she did not develop genu valgum, scoliosis, or nephrocalcinosis.
25-Hydroxyvitamin D3 1-alpha-Hydroxylase* ; Alkaline Phosphatase ; Calcifediol ; Calcitriol ; Calcium ; Female ; Follow-Up Studies ; Genu Valgum ; Growth and Development ; Humans ; Hyperparathyroidism, Secondary ; Hypocalcemia ; Introns ; Nephrocalcinosis ; Radius ; Rickets* ; RNA Splice Sites ; Scoliosis ; Seizures ; Ulna ; Vitamin D* ; Vitamins* ; Wrist

OBJECTIVE: To realize the automated assessment of the levels of epiphysis of distal radius and ulna by support vector machine (SVM). METHODS: The X-ray films of the left wrist joints were taken from 140 teenagers aged from 11 to 19 years old as training samples. The levels of epiphysis of distal radius and ulna were divided into five developmental levels. Each level contained 28 samples. Another 35 cases were selected as independent verifying samples. SVM classification models of the five developmental levels of epiphysis of distal radius and ulna were established. The internal cross validation was made by leave one out cross validation (LOOCV), while the external validation was made by histogram of oriented gradient (HOG), and then the accuracy (PA) of testing results was calculated, respectively. RESULTS: The PA of SVM, LOOCV and HOG of distal radius epiphyseal level were 100%, 78.6%, and 82.8%, respectively; whereas the PA of SVM, LOOCV and HOG of distal ulna epiphyseal level were 100.0%, 80.0% and 88.6%, respectively. CONCLUSION The SVM-based automatic models of the growth stage of distal ra- dius and ulna appear to have certain feasibility, and may provide a foundation for software development of bone age assessment by forensic medicine.
Adolescent ; Bone Development/physiology* ; Child ; Epiphyses/growth & development* ; Female ; Humans ; Image Processing, Computer-Assisted/methods* ; Male ; Radius/growth & development* ; Support Vector Machine ; Ulna/growth & development* ; Wrist/growth & development* ; Wrist Joint/growth & development* ; Young Adult

This paper is aimed to investigate the repair of rabbit radial bone defect by the recombinant human bone morphogenetic protein 2/poly-lactideco-glycolic acid microsphere with fibrin sealant (rhBMP-2/PLGA/FS). The radial bone defect models were prepared using New Zealand white rabbits, which were randomly divided into 3 groups, experiment group which were injected with eMP-2/PLGA/FS at bone defect location, control group which were injected with FS at bone defect location, and blank control group without treatment. The ability of repairing bone defect was evaluated with X-ray radiograph. Bone mineral density in the defect regions was analysed using the level of ossification. The osteogenetic ability of repairing bone defect, the degradation of the material, the morphologic change and the bone formation were assessed by HE staining and Masson staining. The result showed that rhBMP-2/PLGA/FS had overwhelming superiority in the osteogenetic ability and quality of bone defect over the control group, and it could promote the repair of bone defect and could especially repair the radial bone defect of rabbit well. It may be a promising and efficient synthetic bone graft.
Animals ; Bone Morphogenetic Protein 2 ; therapeutic use ; Bone Regeneration ; drug effects ; Bone Substitutes ; therapeutic use ; Female ; Fibrin Tissue Adhesive ; therapeutic use ; Lactic Acid ; therapeutic use ; Male ; Microspheres ; Polyglycolic Acid ; therapeutic use ; Rabbits ; Radius Fractures ; therapy ; Recombinant Proteins ; therapeutic use ; Transforming Growth Factor beta ; therapeutic use

A benign periosteal reaction, which can occur after trauma or stress, has a solid and uninterrupted appearance on radiography. In contrast, an aggressive periosteal reaction, which may indicate a malignancy, appears as a Codman's triangle or with a spiculated and sunburst pattern. In the present case, an 11-year-old boy with a previous injury to the distal radial growth plate presented with diffuse osteolysis on the distal radial metaphysis and decreased opacity of the lateral side cortex on plain radiograph. A Codman's triangle-like lesion was seen on the lateral side of the distal radius, and a few spicules were observed on the medial side of the distal radius. A T2-weighted coronal magnetic resonance image revealed a mass that had stripped the periosteum; the mass had heterogeneous signal intensity and a fl uid-fluid level on axial views. The margins of the mass were unclear, but enhanced. Suspecting a primary malignancy, we performed a biopsy. The pathology revealed that the mass was a simple hematoma.
Biopsy ; Child ; Growth Plate ; Hematoma ; Humans ; Magnetic Resonance Spectroscopy ; Osteolysis ; Periosteum ; Radius

OBJECTIVE: To explore the synergistic effect of basic fibroblast growth factor (bFGF) and vascular endothelial growth factor (VEGF) on the growth of bone tissue. METHODS: A total of 36 rabbits were randomly divided into 4 groups with 9 rabbits (18 sides of the anterior limb) in each group, including group A,B,C, and D. For all rabbits 1.0 cm bone defects was created in both sides of the radius. These bone defect regions were implanted with corresponding composites: group A with calcium phosphate cement (CPC) only, group B with CPC/bFGF, group C with CPC/VEGF while group D with both bFGF and VEGF. At the 3rd, 6th, and 12th week after the operation, 6 specimens from each group were randomly selected. The effects were partly assessed by X-ray film examination, bone mineral density (BMD) measurements, biomechanical test and histological observation. RESULTS: X-ray showed that at the 12th week the bone defects in group D were completely repaired with CPC generally degraded,whereas bone defects in group B and C were only basically repaired. BMD measurements showed that at the 12th week the BMD of group D was significantly higher than that of group B and C (P < 0.05). Biomechanical testing(at the 12th week) showed that the maximum bending load of group D was significantly higher than that of group B and C (P < 0.05). Histological observation indicated that at the 12th week, woven bone had become mature lamellar bone in group D. At the same time, the normal relation of cortical bone and marrow had resumed, and so had the normal structure of trabecula. However, the recanalization of bone marrow cavity could not be seen in group B and C. CONCLUSION These 3 kinds of composite: CPC/bFGF, CPC/VEGF and CPC/ bFGF+VEGF can promote the growth of bone tissue and speed up the repair of bone defects. The composite of CPC/bFGF+VEGF is better than the other two composites in promoting the growth of bone tissues, indicating that bFGF and VEGF have a synergistic effect on the growth of bone tissue.
Animals ; Bone Cements ; Calcium Phosphates ; administration & dosage ; Drug Synergism ; Female ; Fibroblast Growth Factor 2 ; administration & dosage ; Implants, Experimental ; Male ; Rabbits ; Radius ; injuries ; surgery ; Random Allocation ; Vascular Endothelial Growth Factor A ; administration & dosage

OBJECTIVETo study the effect of vascular endothelial growth factor (VEGF)and anti-VEGF on the expression of fracture healing-related factors and observe pathological changes at fractured sites.

METHODSFracture models were established in 105 New Zealand white rabbits and they were randomly divided into control group, VEGF group and anti-VEGF group. The relevant factors expression at fractured sites was assayed and pathological changes were observed in decalcified samples at 8, 24, 72 hours and 1,3,5,8 weeks after fracture.

RESULTSAfter application of VEGF, the expression of BMP appeared earlier and expression time lasted longer. On the contrary, anti-VEGF completely inhibited the expression of BMP. The fractured sites were filled with fibrous callus, cartilaginous callus and bony callus at the 3rd week and woven bone was constructed at the 5th week. Fracture healing was accomplished at the 8th week in VEGF group. In anti-VEGF polyclonal antibody group, cellular necrosis increased at early period. Continuous focal necrosis was seen in the fractured sites from the 1st week to 5th week. Vascularization reduced obviously at the 3rd week.

CONCLUSIONSFracture healing is a result of mutual regulation and coordination among many factors. VEGF may be an important factor in fracture healing.

Animals ; Bone Morphogenetic Proteins ; metabolism ; Electrophoresis, Polyacrylamide Gel ; Fibroblast Growth Factor 2 ; metabolism ; Fracture Healing ; physiology ; Rabbits ; Radius Fractures ; physiopathology ; Vascular Endothelial Growth Factor A ; physiology

Animals ; Blood Platelets ; physiology ; Microscopy, Electron ; Osteogenesis ; Platelet Count ; Platelet-Derived Growth Factor ; analysis ; Rabbits ; Radiography ; Radius ; diagnostic imaging ; ultrastructure ; Transforming Growth Factor beta ; blood

These studies sought to evaluate the promoting effect of the exterior bFGF on membrane guided bone regeneration (MGBR). Animal models of MGBR covered with PDLLA membrane tube in bilateral radii were established in 40 New Zealand white rabbits. The membrane tubes on the left side were filled with bFGF 40 microg/100 microl and those on the contralateral side were filled with 100 microl 0.9% NaCl solution as control. The specimens were collected at 2, 4, 8, 12 weeks postoperatively. General observation, X-ray, histological grading and HE staining,and biomechanical examination were applied to studies on the repair of the models of MGBR in the two groups. Two weeks after operation, a sealed room was formed between the two bone fragments where the soft tissues covered the membrane tube. Twelve weeks after operation, PDLLA membrane became fragile and its tube shape was being maintained. Histologically, in the bFGF group numerous newly formed bone trabeculae were seen at 2 weeks after operation the radial defects had healed and the bone reconstruction and remodling had begun by the 12th week. The histological image analysis showed that the values of mean diameter and the area of new bone trabeculae in the bFGF group were higher than those in the control group (P<0.05) at 2 weeks and 4 weeks; however, there were no significant differences in these aspects between the two groups (P>0.05) at 8 and 12 weeks. The strength of the newly formed bone in the bFGF group was higher than that in the control group at 12 weeks postoperatively (P<0.05). Therefore, the authors concluded that bFGF could promote the new bone formation and biomechanical strength in the MGBR model.
Animals ; Biomechanical Phenomena ; Bone Regeneration ; drug effects ; Female ; Fibroblast Growth Factor 2 ; pharmacology ; Guided Tissue Regeneration ; Lactic Acid ; Male ; Osteogenesis ; drug effects ; Polyesters ; Polymers ; Rabbits ; Radius ; injuries ; pathology

Growth and development evaluation of patients with growth potential is of great importance for orthodontic treatment planning. Timing of orthodontic intervention greatly depends on one`s developmental status, thus if there is a difference in skeletal maturation among malocclusion types different treatment timing should be applied. The objective of this study was to evaluate and compare skeletal maturation among different malocclusion types. The samples used in this study was 38 ClassI. 36 ClassII and 33 ClassIII females aging from 8 to 10 years. Handwrist X-rays were taken with 6 month interval till 12-13 years of age. The results were as follows. 1. There was no skeletal maturity difference among different malocclusion types. 2. The hamular process of hamate was observed at 9.16+/-0.72 years, pisiform bone at 9.13+/-0.71 years and the ulnar sesamoid at 10.34+/-0.84 years. 3. The timing of epiphyseal capping on the third finger was 10.96+/-0.80 years for distal phalanx and 11.27+/-0.87 years for middle phalanx, 11.12+/-0.86 years for proximal phalanx of the first finger, 11.21+/-0.82 years for radius and 11.62+/-0.85 years for middle phalanx of the fifth finger. 4. The appearance of pisiform bone showed high correlation with appearance of hamular process of hamate(r=0.91), and ulnar sesamoid bone appearance showed high correlation with advanced ossification of hamular process(r=0.86). Timing of epiphyseal capping among different parts showed high correlation(r=0.80-0.90). 5. The shape of middle phalanx of the fifth finger showed the highest variability (20.6%).
Aging ; Female ; Fingers ; Growth and Development ; Hand* ; Humans ; Longitudinal Studies* ; Malocclusion* ; Pisiform Bone ; Radius ; Sesamoid Bones ; Wrist*