Congenital clubfoot in Europe: A population‐based study

Wang, Hao; Barišić, Ingeborg; Loane, Maria; Addor, Marie Claude; Bailey, Linda; Gatt, Miriam; Klungsøyr, Kari; Mokoroa, Olatz; Nelen, Vera; Neville, Amanda J.; O’Mahony, Mary; Pierini, Anna; Rißmann, Anke; Verellen‐Dumoulin, Christine; Walle, Hermien E. K. de; Wiesel, Awi; Wiśniewska, Katarzyna; Berg, Lolkje T. W. de Jong-van den; Dolk, Helen; Khoshnood, Babak; Garne, Ester

doi:10.1002/ajmg.a.61067

Cited by 40 publications

(57 citation statements)

References 30 publications

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“…As a common developmental malformation of newborns, clubfoot affects approximately 2% of newborns (Wang et al, 2019). If not actively and timely treated, this deformity will accompany the child for a lifetime, which will not only affect the appearance of the child, including walking difficulties or even a disability, but also cause serious adverse effects on the mental health of the child.…”

Section: Introductionmentioning

confidence: 99%

Integrated bioinformatics analysis of potential pathway biomarkers using abnormal proteins in clubfoot

Cai

Yang

Chen

et al. 2020

PeerJ

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Background As one of the most common major congenital distal skeletal abnormalities, congenital talipes equinovarus (clubfoot) affects approximately one in one thousandth newborns. Although several etiologies of clubfoot have been proposed and several genes have been identified as susceptible genes, previous studies did not further explore signaling pathways and potential upstream and downstream regulatory networks. Therefore, the aim of the present investigation is to explore abnormal pathways and their interactions in clubfoot using integrated bioinformatics analyses. Methods KEGG, gene ontology (GO), Reactome (REAC), WikiPathways (WP) or human phenotype ontology (HP) enrichment analysis were performed using WebGestalt, g:Profiler and NetworkAnalyst. Results A large number of signaling pathways were enriched e.g. signal transduction, disease, metabolism, gene expression (transcription), immune system, developmental biology, cell cycle, and ECM. Protein-protein interactions (PPIs) and gene regulatory networks (GRNs) analysis results indicated that extensive and complex interactions occur in these proteins, enrichment pathways, and TF-miRNA coregulatory networks. Transcription factors such as SOX9, CTNNB1, GLI3, FHL2, TGFBI and HOXD13, regulated these candidate proteins. Conclusion The results of the present study supported previously proposed hypotheses, such as ECM, genetic, muscle, neurological, skeletal, and vascular abnormalities. More importantly, the enrichment results also indicated cellular or immune responses to external stimuli, and abnormal molecular transport or metabolism may be new potential etiological mechanisms of clubfoot.

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Section: Introductionmentioning

confidence: 99%

Integrated bioinformatics analysis of potential pathway biomarkers using abnormal proteins in clubfoot

Cai

Yang

Chen

et al. 2020

PeerJ

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“…Congenital talipes equinovarus, also named clubfoot, is one of the most common major congenital distal skeletal abnormalities in newborn infants with a prevalence of 1.13 per 1000 livebirths [ 1 ]. A previous study confirmed that about 20% of clubfoot patients are connected with chromosomal abnormalities [ 2 ].…”

Section: Introductionmentioning

confidence: 99%

Integrated Bioinformatics Analysis Reveals Potential Pathway Biomarkers and Their Interactions for Clubfoot

et al. 2020

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Background Congenital talipes equinovarus (clubfoot), one of the most regular pediatric congenital skeletal anomalies, seriously affects the normal growth and development of about 1 in 1000 newborns. Although it has been investigated widely, the etiology and pathogenesis of clubfoot are still controversial. Material/Methods g: Profiler, NetworkAnalyst and WebGestalt were used to probe the enriched signaling pathways by using the Gene Ontology (GO), Human Phenotype Ontology (HP), Kyoto Encyclopedia of Genes and Genomes (KEGG), Reactome (REAC), and WikiPathways (WP) databases. Large numbers of enriched signaling pathways were identified using the integrated bioinformatics enrichment analyses. Results Apoptosis or programmed cell death (PCD), disease, muscle contraction, metabolism, and immune system were the top functions. Embryo or organ morphogenesis and development, cell or muscle contraction, and apoptosis were the top biological processes, and cell/muscle contraction and apoptosis were the top molecular functions using enriched GO terms analysis. There were a large number of complex interactions in the genes, enriched pathways, and transcription factor (TF)-miRNA co-regulatory networks. Transcription factors such as FOXN3, GLI3, HOX, and NCOR2 family regulated the gene expression of APAF1, BCL2, BID, CASP, MTHFR, and TPM family. Conclusions The results of bioinformatics enrichment analysis not only supported the previously proposed hypotheses, e.g., extracellular matrix (ECM) abnormality, fetal movement reducing, genetic abnormality, muscle abnormality, neurological abnormality, skeletal abnormality and vascular abnormality, but also indicated that cellular or immune responses to external stimulus, molecular transport and metabolism may be new etiological mechanisms in clubfoot.

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“…Further evidence for a genetic basis for clubfoot is the differences in clubfoot prevalence across ethnic populations, with the lowest prevalence in Chinese (0.39 cases per 1000 live births) and highest in the Hawaiians and Maoris (7 per 1000) [10,11]. The neuromuscular etiological concepts in congenital clubfeet yield important information regarding recurrent deformities, especially dynamic supination [12,13,14].…”

Section: Introductionmentioning

confidence: 99%

Results of Treatment of Idiopathic Congenital Clubfoot in Children: A 3-Year Follow Up Study

2020

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The aim: Was to analyze the outcome, recurrence rate and complications between Ponseti method and soft-tissue release 3 yearsafter the initial treatment. Materials and methods: This prospective cohort study was conducted in congenital idiopathic clubfoot patients who underwent primary treatment by either Ponseti serial casting or soft tissue release between 2006 to 2016 at department of traumatology and orthopedics National Children’s Specialized Hospital “Okhmatdet”. Total of 113 feet in 95 patients (61 males and 34 females), sixty-two feet (62 patients) were in the Ponseti group and thirty-three feet (33 patients) were in the surgical treatment group. For both groups, descriptive statistics were calculated Pirani score (2004) result before and 3 years after treatment, recurrence rate and complications. The comparison of the Pirani score result and complications between the two groups was analyzed by nonparametric tests (Mann-Whitney U-tests). Statistical data processing was performed in SPSS 17.0 program. Results: The results of Pirani score reveal satisfactory outcomes for both groups. But Ponseti method has the more conservative approach and lower complication rate (11,29±5,27% and 24,24±11,74%, p=0,52). Conclusions: Ponseti method is a safe, effective method for treatment of congenital idiopathic clubfoot in children from first days after birth. Open surgery should be reserved for deformity that cannot be completely corrected or for treatment of recurrences.

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Congenital clubfoot in Europe: A population‐based study

Cited by 40 publications

References 30 publications

Integrated bioinformatics analysis of potential pathway biomarkers using abnormal proteins in clubfoot

Integrated bioinformatics analysis of potential pathway biomarkers using abnormal proteins in clubfoot

Integrated Bioinformatics Analysis Reveals Potential Pathway Biomarkers and Their Interactions for Clubfoot

Results of Treatment of Idiopathic Congenital Clubfoot in Children: A 3-Year Follow Up Study

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