Aliases & Classifications for Plagiocephaly

Summaries for Plagiocephaly

MalaCards based summary : Plagiocephaly is related to isolated plagiocephaly and muenke syndrome. An important gene associated with Plagiocephaly is FGFR3 (Fibroblast Growth Factor Receptor 3), and among its related pathways/superpathways are Cytokine Signaling in Immune system and Phospholipase-C Pathway. The drug Salicylic acid has been mentioned in the context of this disorder. Affiliated tissues include bone, brain and heart, and related phenotypes are Decreased human cytomegalovirus (HCMV) strain AD169 replication and Decreased substrate adherent cell growth

Wikipedia : 77 Plagiocephaly, also known as flat head syndrome, is a condition characterized by an asymmetrical... more...

Related Diseases for Plagiocephaly

Diseases related to Plagiocephaly via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 61)
# Related Disease Score Top Affiliating Genes
1 isolated plagiocephaly 33.7 FGFR3 TWIST1
2 muenke syndrome 30.5 FGFR1 FGFR2 FGFR3 TWIST1
3 strabismus 30.0 FGFR2 FGFR3 TWIST1
4 synostosis 29.9 FGFR1 FGFR2 FGFR3 TWIST1
5 dysostosis 29.7 FGFR2 TWIST1
6 craniosynostosis 29.6 FGFR1 FGFR2 FGFR3 TWIST1
7 crouzon syndrome 29.5 FGFR1 FGFR2 FGFR3
8 apert syndrome 28.8 FGFR1 FGFR2 FGFR3 TWIST1
9 x-linked intellectual disability-plagiocephaly syndrome 12.4
10 lambdoid synostosis 11.5
11 mental retardation, x-linked, with craniofacial dysmorphism 11.3
12 faciocardiorenal syndrome 11.1
13 brachycephaly, deafness, cataract, microstomia, and mental retardation 11.1
14 49, xxxxx 11.1
15 iqsec2 11.1
16 torticollis 10.6
17 mechanical strabismus 10.3
18 congenital torticollis 10.3
19 sudden infant death syndrome 10.1
20 isolated brachycephaly 10.1 FGFR3 TWIST1
21 hemifacial hyperplasia 10.0 FGFR2 FGFR3
22 luteoma 10.0 FGFR2 FGFR3
23 beare-stevenson cutis gyrata syndrome 10.0 FGFR2 FGFR3
24 alagille syndrome 1 10.0
25 craniosynostosis 1 10.0
26 hemifacial microsomia 10.0
27 otitis media 10.0
28 astigmatism 10.0
29 hemangioma 10.0
30 scoliosis 10.0
31 microphthalmia 10.0
32 heart disease 10.0
33 refractive error 10.0
34 hypertropia 10.0 FGFR2 FGFR3
35 exophthalmos 9.9 FGFR2 FGFR3
36 chromosome 2q35 duplication syndrome 9.9 FGFR2 FGFR3
37 acanthosis nigricans 9.9 FGFR2 FGFR3
38 hypertelorism 9.9 FGFR2 TWIST1
39 autosomal dominant disease 9.9 FGFR2 FGFR3
40 synovial chondromatosis 9.8 FGFR1 FGFR3
41 osteochondroma 9.8 FGFR1 FGFR3
42 giant cell glioblastoma 9.8 FGFR1 FGFR3
43 fibrolamellar carcinoma 9.8 FGFR1 FGFR2
44 antley-bixler syndrome 9.8 FGFR1 FGFR2
45 bone marrow cancer 9.7 FGFR1 FGFR3
46 gliosarcoma 9.6 FGFR1 FGFR3 TWIST1
47 tooth agenesis 9.6 FGFR1 FGFR2
48 osteoglophonic dysplasia 9.6 FGFR1 FGFR2 FGFR3
49 jackson-weiss syndrome 9.5 FGFR1 FGFR2 FGFR3
50 radioulnar synostosis 9.5 FGFR1 FGFR2 FGFR3

Graphical network of the top 20 diseases related to Plagiocephaly:



Diseases related to Plagiocephaly

Symptoms & Phenotypes for Plagiocephaly

GenomeRNAi Phenotypes related to Plagiocephaly according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased human cytomegalovirus (HCMV) strain AD169 replication GR00248-A 9.13 FGFR1 FGFR2 FGFR3
2 Decreased substrate adherent cell growth GR00193-A-2 8.8 FGFR2
3 Decreased substrate adherent cell growth GR00193-A-3 8.8 FGFR2 FGFR3

MGI Mouse Phenotypes related to Plagiocephaly:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.62 FGFR1 FGFR2 FGFR3 TWIST1
2 digestive/alimentary MP:0005381 9.56 FGFR1 FGFR2 FGFR3 TWIST1
3 hearing/vestibular/ear MP:0005377 9.33 FGFR1 FGFR2 FGFR3
4 limbs/digits/tail MP:0005371 9.26 FGFR1 FGFR2 FGFR3 TWIST1
5 skeleton MP:0005390 8.92 FGFR1 FGFR2 FGFR3 TWIST1

Drugs & Therapeutics for Plagiocephaly

Drugs for Plagiocephaly (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Salicylic acid Approved, Investigational, Vet_approved Not Applicable 69-72-7 338

Interventional clinical trials:

(show all 14)
# Name Status NCT ID Phase Drugs
1 Investigating the Effectiveness of Control Frequency on and Deformational Plagiocephaly Unknown status NCT02607969 Not Applicable
2 Investigating the Effectiveness of Mobilization on Congenital Muscular Torticollis and Deformational Plagiocephaly Unknown status NCT02403011 Not Applicable
3 Postural Assessment in Plagiocephaly Completed NCT01989286
4 Premie Pouch to Manage Deformational Plagiocephaly in Very Low Birth Weight Infants Completed NCT03184441 Not Applicable
5 Needle Aspiration for Large Cephalohematoma Completed NCT03875456
6 Efficacy of Pediatric Manual Therapy in the Positional Plagiocephaly Recruiting NCT03659032 Not Applicable
7 Newborn Head Molding and Later Asymmetries Active, not recruiting NCT02283229 Not Applicable
8 Brain Characteristics Noted Prior to and Following Treatment Active, not recruiting NCT02392195
9 Osteopathic Approach Into Neonatology Ward: the NE-O Model Available NCT01902563
10 Effect of Usage Time of Helmet in Babies With Deformational Plagiocephaly Not yet recruiting NCT03430739
11 Cranial Orthotic Device Versus Repositioning Techniques for the Management of Plagiocephaly: the CRANIO Randomized Trial Not yet recruiting NCT02370901 Not Applicable
12 Preventive Osteopathic Treatment of Plagiocephaly Not yet recruiting NCT03780920 Not Applicable
13 Cranial Cup Use for the Prevention of Positional Head Shape Deformity in the NICU Terminated NCT01218087 Not Applicable
14 Hanger Helmet Study Withdrawn NCT02561728 Not Applicable

Search NIH Clinical Center for Plagiocephaly

Genetic Tests for Plagiocephaly

Genetic tests related to Plagiocephaly:

# Genetic test Affiliating Genes
1 Plagiocephaly 30

Anatomical Context for Plagiocephaly

MalaCards organs/tissues related to Plagiocephaly:

42
Bone, Brain, Heart, Testes, Eye, Bone Marrow

Publications for Plagiocephaly

Articles related to Plagiocephaly:

(show top 50) (show all 417)
# Title Authors Year
1
Head orthosis therapy in positional plagiocephaly: longitudinal 3D-investigation of long-term outcomes, compared with untreated infants and with a control group. ( 29617743 )
2019
2
Cognitive Outcomes and Positional Plagiocephaly. ( 30635350 )
2019
3
Feasibility and Safety of the Preemie Orthotic Device to Manage Deformational Plagiocephaly in Extremely Low Birth Weight Infants. ( 30724785 )
2019
4
Nonsynostotic plagiocephaly: a child health care intervention in Skaraborg, Sweden. ( 30727985 )
2019
5
Outcome analysis of molding helmet therapy using a classification for differentiation between plagiocephaly, brachycephaly and combination of both. ( 30733135 )
2019
6
Periocular Asymmetry in Infants with Deformational Posterior Plagiocephaly. ( 30811279 )
2019
7
Ultrasonography as first line imaging for the diagnosis of positional plagiocephaly: our experience and literature review. ( 30916518 )
2019
8
Impact of an advanced practice provider-directed plagiocephaly clinic for neurosurgical practices. ( 30925478 )
2019
9
Significant Factors Influencing the Effectiveness of Cranial Remolding Orthoses in Infants With Deformational Plagiocephaly. ( 30985500 )
2019
10
Prevalence and severity of positional plagiocephaly in children and adolescents. ( 31041593 )
2019
11
Impact of Parent Practices of Infant Positioning on Head Orientation Profile and Development of Positional Plagiocephaly in Healthy Term Infants. ( 28375778 )
2018
12
Does shape affect function? Articulatory skills in babbling of infants with deformational plagiocephaly. ( 28875353 )
2018
13
Analysis of the correlation between deformational plagiocephaly and neurodevelopmental delay. ( 28958569 )
2018
14
A New Operative One-Wing Technique to Correct Fronto-Orbital Region in Unilateral Nonsyndromic Plagiocephaly. ( 29065042 )
2018
15
Evaluation of positional plagiocephaly: Conventional anthropometric measurement versus laser scanning method. ( 29137851 )
2018
16
A Clinical Photographic Method to Evaluate the Need for Helmet Therapy in Deformational Plagiocephaly. ( 29194259 )
2018
17
Facial asymmetry correction with moulded helmet therapy in infants with deformational skull base plagiocephaly. ( 29221913 )
2018
18
Analysis of the correlation between deformational plagiocephaly and neurodevelopment delay: Methodological issues. ( 29229424 )
2018
19
Analysis of the correlation between deformational plagiocephaly and neurodevelopment delay: Methodological issues. ( 29246736 )
2018
20
Preventing "Flat-headed" Babies: A Commentary on "Impact of Parent Practices of Infant Positioning on Head Orientation Profile and Development of Positional Plagiocephaly in Healthy Term Infants". ( 29372872 )
2018
21
Craniofacial Distraction in the Management of Anterior Plagiocephaly: A Novel Idea and a Systematic Review of the Literature. ( 29408824 )
2018
22
Anterior Unilateral Plagiocephaly in Patient with Alagille Syndrome: Case Report. ( 29530693 )
2018
23
Use of black-bone MRI in the diagnosis of the patients with posterior plagiocephaly. ( 29594536 )
2018
24
Three-dimensional study of 31 cases of synostotic anterior plagiocephaly before and after surgical management the Lille protocol. ( 29661661 )
2018
25
Effect of head orthoses on skull deformities in positional plagiocephaly: Evaluation of a 3-dimensional approach. ( 29680682 )
2018
26
Assessing calvarial vault constriction associated with helmet therapy in deformational plagiocephaly. ( 29749885 )
2018
27
Quantitative analysis of cranial-orbital changes in infants with anterior synostotic plagiocephaly. ( 29761256 )
2018
28
Description of Mandibular Improvements in a Series of Infants With Congenital Muscular Torticollis and Deformational Plagiocephaly Treated With Physical Therapy. ( 29989836 )
2018
29
Prevalence and characteristics of positional plagiocephaly in healthy full-term infants at 8-12 weeks of life. ( 30030600 )
2018
30
Integrating new knowledge into practice: An evaluation study on a continuing education for Swedish child health nurses on non-synostotic plagiocephaly. ( 30062027 )
2018
31
Deformational plagiocephaly: The case for an evolutionary mismatch. ( 30151193 )
2018
32
Early Surgical Treatment in Anterior Synostotic Plagiocephaly: Is This the Best Choice? ( 30320675 )
2018
33
Parents' Perspectives and Clinical Effectiveness of Cranial-Molding Orthoses in Infants With Plagiocephaly. ( 30404423 )
2018
34
Unicoronal Craniosynostosis and Plagiocephaly Correction with Fronto-orbital Bone Remodeling and Advancement. ( 28713746 )
2017
35
Positional plagiocephaly is associated with sternocleidomastoid muscle activation in healthy term infants. ( 28236068 )
2017
36
Plagiocephaly Severity Scale to Aid in Clinical Treatment Recommendations. ( 28468155 )
2017
37
Relationship between starting age of cranial-remolding-orthosis therapy and effectiveness of treatment in children with deformational plagiocephaly. ( 28484866 )
2017
38
Accuracy of measurements used to quantify cranial asymmetry in deformational plagiocephaly. ( 28615136 )
2017
39
Comparison of endocranial morphology according to age in one-piece fronto-orbital advancement using a distraction in craniosynostotic plagiocephaly. ( 28724507 )
2017
40
Head Orthosis Therapy in Positional Plagiocephaly: Influence of Age and Severity of Asymmetry on Effect and Duration of Therapy. ( 28746283 )
2017
41
Discussion: Head Orthosis Therapy in Positional Plagiocephaly: Influence of Age and Severity of Asymmetry on Effect and Duration of Therapy. ( 28746284 )
2017
42
The Role of Age and Initial Deformation on Final Cranial Asymmetry in Infants with Plagiocephaly Treated with Helmet Therapy. ( 28850946 )
2017
43
The functional manual therapy intervention in infants with nonsynostotic plagiocephaly: a pilot study. ( 29072040 )
2017
44
Six month-old infants with deformational plagiocephaly do not differ from unaffected infants with respect to vocal control. ( 29106864 )
2017
45
Deformational Plagiocephaly: A Review. ( 29394478 )
2017
46
Time to revisit tummy time: A commentary on plagiocephaly and development. ( 29479204 )
2017
47
Diagnostic Yield of Routine Skull Radiographs in Infants With Deformational Plagiocephaly. ( 27136073 )
2017
48
Neurological assessment of Chinese infants with positional plagiocephaly using a Chinese version of the Infant Neurological International Battery (INFANIB). ( 27718070 )
2017
49
Positional plagiocephaly following ventriculoperitoneal shunting in neonates and infancy-how serious is it? ( 27848003 )
2017
50
Plagiocephaly and Developmental Delay: A Systematic Review. ( 28009719 )
2017

Variations for Plagiocephaly

ClinVar genetic disease variations for Plagiocephaly:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SCN1A NM_006920.5(SCN1A): c.4801G> A (p.Val1601Ile) single nucleotide variant Likely benign rs121918808 GRCh37 Chromosome 2, 166850674: 166850674
2 SCN1A NM_006920.5(SCN1A): c.4801G> A (p.Val1601Ile) single nucleotide variant Likely benign rs121918808 GRCh38 Chromosome 2, 165994164: 165994164
3 46;XY;t(4;14)(p15.32;q32.1)dn Translocation Uncertain significance
4 46;XY;t(6;11)(q23;q21)or(q25;q21)dn Translocation Uncertain significance
5 46;Y;inv(X)(q13q24)mat inversion Uncertain significance
6 46;XY;t(2;13)(p25.2;q31.3)dn Translocation Uncertain significance
7 POLG NM_002693.2(POLG): c.3242G> A (p.Arg1081Gln) single nucleotide variant Uncertain significance rs140079523 GRCh37 Chromosome 15, 89862193: 89862193
8 POLG NM_002693.2(POLG): c.3242G> A (p.Arg1081Gln) single nucleotide variant Uncertain significance rs140079523 GRCh38 Chromosome 15, 89318962: 89318962

Expression for Plagiocephaly

Search GEO for disease gene expression data for Plagiocephaly.

Pathways for Plagiocephaly

Pathways related to Plagiocephaly according to GeneCards Suite gene sharing:

(show all 41)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13 FGFR1 FGFR2 FGFR3 TWIST1
2
Show member pathways
12.75 FGFR1 FGFR2 FGFR3
3
Show member pathways
12.74 FGFR1 FGFR2 FGFR3
4
Show member pathways
12.69 FGFR1 FGFR2 FGFR3
5
Show member pathways
12.69 FGFR1 FGFR2 FGFR3
6
Show member pathways
12.58 FGFR1 FGFR2 FGFR3
7
Show member pathways
12.58 FGFR1 FGFR2 FGFR3
8 12.56 FGFR1 FGFR2 FGFR3
9 12.49 FGFR1 FGFR2 FGFR3
10
Show member pathways
12.45 FGFR1 FGFR2 FGFR3
11
Show member pathways
12.44 FGFR1 FGFR2 FGFR3
12
Show member pathways
12.42 FGFR1 FGFR2 FGFR3
13
Show member pathways
12.42 FGFR1 FGFR2 FGFR3
14 12.35 FGFR1 FGFR2 FGFR3
15
Show member pathways
12.23 FGFR1 FGFR2 FGFR3
16
Show member pathways
12.16 FGFR1 FGFR2 FGFR3
17
Show member pathways
12.15 FGFR1 FGFR2 FGFR3
18
Show member pathways
12.12 FGFR1 FGFR2 FGFR3
19
Show member pathways
12.1 FGFR1 FGFR2 FGFR3
20
Show member pathways
12.09 FGFR1 FGFR2 FGFR3
21
Show member pathways
11.99 FGFR1 FGFR2 FGFR3
22
Show member pathways
11.97 FGFR1 FGFR2 FGFR3
23
Show member pathways
11.92 FGFR1 FGFR2 FGFR3
24
Show member pathways
11.91 FGFR1 FGFR2 FGFR3
25 11.83 FGFR1 FGFR2 FGFR3
26
Show member pathways
11.83 FGFR1 FGFR2 FGFR3
27
Show member pathways
11.81 FGFR1 FGFR2 FGFR3
28 11.75 FGFR1 FGFR2 FGFR3
29 11.69 FGFR1 FGFR2 FGFR3
30 11.57 FGFR1 FGFR3
31 11.48 FGFR1 FGFR3
32 11.46 FGFR1 FGFR2 FGFR3
33 11.45 FGFR1 FGFR2 FGFR3
34 11.31 FGFR1 FGFR2
35 11.25 FGFR1 FGFR2 FGFR3
36 11.12 FGFR1 FGFR2 FGFR3
37 10.99 FGFR1 FGFR2 FGFR3
38 10.93 FGFR1 FGFR2 FGFR3 TWIST1
39 10.77 FGFR1 FGFR2 FGFR3
40 10.76 FGFR1 FGFR2 FGFR3
41 10.74 FGFR1 FGFR2 FGFR3

GO Terms for Plagiocephaly

Cellular components related to Plagiocephaly according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasmic vesicle GO:0031410 9.13 FGFR1 FGFR2 FGFR3
2 receptor complex GO:0043235 8.8 FGFR1 FGFR2 FGFR3

Biological processes related to Plagiocephaly according to GeneCards Suite gene sharing:

(show all 41)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription by RNA polymerase II GO:0000122 9.86 FGFR1 FGFR2 TWIST1
2 phosphorylation GO:0016310 9.85 FGFR1 FGFR2 FGFR3
3 protein phosphorylation GO:0006468 9.85 FGFR1 FGFR2 FGFR3
4 positive regulation of cell proliferation GO:0008284 9.84 FGFR1 FGFR2 FGFR3
5 MAPK cascade GO:0000165 9.75 FGFR1 FGFR2 FGFR3
6 in utero embryonic development GO:0001701 9.73 FGFR1 FGFR2 TWIST1
7 peptidyl-tyrosine phosphorylation GO:0018108 9.71 FGFR1 FGFR2 FGFR3
8 protein autophosphorylation GO:0046777 9.7 FGFR1 FGFR2 FGFR3
9 positive regulation of protein kinase B signaling GO:0051897 9.69 FGFR1 FGFR2 FGFR3
10 skeletal system development GO:0001501 9.68 FGFR1 FGFR3
11 neuron migration GO:0001764 9.68 FGFR1 TWIST1
12 lung development GO:0030324 9.68 FGFR1 FGFR2
13 inner ear morphogenesis GO:0042472 9.66 FGFR1 FGFR2
14 positive regulation of epithelial cell proliferation GO:0050679 9.66 FGFR2 TWIST1
15 embryonic limb morphogenesis GO:0030326 9.65 FGFR1 TWIST1
16 positive regulation of cell cycle GO:0045787 9.65 FGFR1 FGFR2
17 bone development GO:0060348 9.65 FGFR2 TWIST1
18 skeletal system morphogenesis GO:0048705 9.64 FGFR1 FGFR2
19 ureteric bud development GO:0001657 9.64 FGFR1 FGFR2
20 bone mineralization GO:0030282 9.63 FGFR2 FGFR3
21 chondrocyte differentiation GO:0002062 9.63 FGFR1 FGFR3
22 positive regulation of MAPK cascade GO:0043410 9.63 FGFR1 FGFR2 FGFR3
23 positive regulation of cardiac muscle cell proliferation GO:0060045 9.62 FGFR1 FGFR2
24 midbrain development GO:0030901 9.62 FGFR1 FGFR2
25 embryonic cranial skeleton morphogenesis GO:0048701 9.61 FGFR2 TWIST1
26 bone morphogenesis GO:0060349 9.61 FGFR2 FGFR3
27 odontogenesis GO:0042476 9.6 FGFR2 TWIST1
28 positive regulation of mesenchymal cell proliferation GO:0002053 9.59 FGFR1 FGFR2
29 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.58 FGFR2 FGFR3
30 branching involved in salivary gland morphogenesis GO:0060445 9.55 FGFR1 FGFR2
31 mesenchymal cell differentiation GO:0048762 9.49 FGFR1 FGFR2
32 outer ear morphogenesis GO:0042473 9.48 FGFR1 TWIST1
33 lung-associated mesenchyme development GO:0060484 9.43 FGFR1 FGFR2
34 fibroblast growth factor receptor signaling pathway GO:0008543 9.43 FGFR1 FGFR2 FGFR3
35 endochondral bone growth GO:0003416 9.4 FGFR2 FGFR3
36 orbitofrontal cortex development GO:0021769 9.32 FGFR1 FGFR2
37 cell differentiation GO:0030154 9.27 TWIST1
38 ventricular zone neuroblast division GO:0021847 9.16 FGFR1 FGFR2
39 negative regulation of apoptotic process GO:0043066 9.07 TWIST1
40 fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development GO:0035607 8.96 FGFR1 FGFR2
41 positive regulation of phospholipase activity GO:0010518 8.8 FGFR1 FGFR2 FGFR3

Molecular functions related to Plagiocephaly according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein homodimerization activity GO:0042803 9.61 FGFR1 FGFR2 TWIST1
2 kinase activity GO:0016301 9.58 FGFR1 FGFR2 FGFR3
3 protein kinase activity GO:0004672 9.54 FGFR1 FGFR2 FGFR3
4 nucleotide binding GO:0000166 9.5 FGFR1 FGFR2 FGFR3
5 protein tyrosine kinase activity GO:0004713 9.43 FGFR1 FGFR2 FGFR3
6 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.33 FGFR1 FGFR2 FGFR3
7 fibroblast growth factor binding GO:0017134 9.13 FGFR1 FGFR2 FGFR3
8 fibroblast growth factor-activated receptor activity GO:0005007 8.8 FGFR1 FGFR2 FGFR3

Sources for Plagiocephaly

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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