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Pediatrics Feb 2022Idiopathic congenital clubfoot is the most common serious musculoskeletal birth defect in the United States and the world. The natural history of the deformity is to... (Review)
Review
Idiopathic congenital clubfoot is the most common serious musculoskeletal birth defect in the United States and the world. The natural history of the deformity is to persist into adult life with a significant decrease in function and quality of life. The Ponseti method (serial casting, Achilles tenotomy, and bracing of the clubfoot) has become the most effective and accepted treatment of children born with clubfoot worldwide. The treatment is successful, particularly when the Ponseti-trained practitioner (often a pediatric orthopedic surgeon), the primary care clinician, and the family work together to facilitate success. An important factor in the ultimate success of the Ponseti method is parental understanding of the bracing phase. There is a very high rate of recurrent deformity when bracing is not done properly or is stopped prematurely. The importance of positive education and support for the parents to complete the entire treatment protocol cannot be overstated. The goal of treatment is a deformity-free, functional, comfortable foot. Ponseti clubfoot programs have been launched in most countries throughout the world, including many countries with limited resources. Ultimately, the goal is that every infant born with a clubfoot will have access to care with the Ponseti method. This clinical report is intended for medical practitioners who are involved in the care of pediatric patients with clubfoot. Understanding the standard of care will help these practitioners to care for patients and their families.
Topics: Braces; Clubfoot; Humans; Tenotomy; Treatment Outcome; Ultrasonography, Prenatal
PubMed: 35104362
DOI: 10.1542/peds.2021-055555 -
PloS One 2017Congenital talipes equinovarus (CTEV), also known as clubfoot, is common congenital orthopedic foot deformity in children characterized by four components of foot... (Review)
Review
BACKGROUND
Congenital talipes equinovarus (CTEV), also known as clubfoot, is common congenital orthopedic foot deformity in children characterized by four components of foot deformities: hindfoot equinus, hindfoot varus, midfoot cavus, and forefoot adduction. Although a number of conservative and surgical methods have been proposed to correct the clubfoot deformity, the relapses of the clubfoot are not uncommon. Several previous literatures discussed about the technical details of Ponseti method, adherence of Ponseti protocol among walking age or older children. However there is a necessity to investigate the relapse pattern, compliance of bracing, number of casts used in treatment and the percentages of surgical referral under two years of age for clear understanding and better practice to achieve successful outcome without or reduce relapse. Therefore this study aims to review the current evidence of Ponseti method (manipulation, casting, percutaneous Achilles tenotomy, and bracing) in the management of clubfoot under two years of age.
MATERIALS AND METHODS
Articles were searched from 2000 to 2015, in the following databases to identify the effectiveness of Ponseti method treatment for clubfoot: Medline, Cumulative Index to Nursing and Allied Health Literature (CINHAL), PubMed, and Scopus. The database searches were limited to articles published in English, and articles were focused on the effectiveness of Ponseti method on children with less than 2 years of age.
RESULTS
Of the outcome of 1095 articles from four electronic databases, twelve articles were included in the review. Pirani scoring system, Dimeglio scoring system, measuring the range of motion and rate of relapses were used as outcome measures.
CONCLUSIONS
In conclusion, all reviewed, 12 articles reported that Ponseti method is a very effective method to correct the clubfoot deformities. However, we noticed that relapses occur in nine studies, which is due to the non-adherence of bracing regime and other factors such as low income and social economic status.
Topics: Animals; Clubfoot; Disease Management; Humans; Orthopedic Procedures
PubMed: 28632733
DOI: 10.1371/journal.pone.0178299 -
The Cochrane Database of Systematic... May 2020Congenital talipes equinovarus (CTEV), also known as clubfoot, is a common congenital orthopaedic condition characterised by an excessively turned-in foot (equinovarus)...
BACKGROUND
Congenital talipes equinovarus (CTEV), also known as clubfoot, is a common congenital orthopaedic condition characterised by an excessively turned-in foot (equinovarus) and high medial longitudinal arch (cavus). If left untreated it can result in long-term disability, deformity and pain. Interventions can be conservative (such as splinting or stretching) or surgical. Different treatments might be effective at different stages: at birth (initial presentation); when initial treatment does not work (resistant presentation); when the initial treatment works but the clubfoot returns (relapse/recurrent presentation); and when there has been no early treatment (neglected presentation). This is an update of a review first published in 2010 and last updated in 2014.
OBJECTIVES
To assess the effects of any intervention for any type of CTEV in people of any age.
SEARCH METHODS
On 28 May 2019, we searched the Cochrane Neuromuscular Specialised Register, CENTRAL, MEDLINE, Embase, CINAHL Plus, AMED and Physiotherapy Evidence Database. We also searched for ongoing trials in the WHO International Clinical Trials Registry Platform and ClinicalTrials.gov (to May 2019). We checked the references of included studies.
SELECTION CRITERIA
Randomised controlled trials (RCTs) and quasi-RCTs evaluating interventions for CTEV, including interventions compared to other interventions, sham intervention or no intervention. Participants were people of all ages with CTEV of either one or both feet.
DATA COLLECTION AND ANALYSIS
Two review authors independently assessed the risks of bias in included trials and extracted the data. We contacted authors of included trials for missing information. We collected adverse event information from trials when it was available. When required we attempted to obtain individual patient data (IPD) from trial authors for re-analysis. If unit-of-analysis issues were present and IPD unavailable we did not report summary data, MAIN RESULTS: We identified 21 trials with 905 participants; seven trials were newly included for this update. Fourteen trials assessed initial cases of CTEV (560 participants), four trials assessed resistant cases (181 participants) and three trials assessed cases of unknown timing (153 participants). The use of different outcome measures prevented pooling of data for meta-analysis, even when interventions and participants were comparable. All trials displayed high or unclear risks of bias in three or more domains. Twenty trials provided data. Two trials reported on the primary outcome of function using a validated scale, but the data were not suitable for inclusion because of unit-of-analysis issues, as raw data were not available for re-analysis. We were able to analyse data on foot alignment (Pirani score), a secondary outcome, from three trials in participants at initial presentation. The Pirani score is a scale ranging from zero to six, where a higher score indicates a more severe foot. At initial presentation, one trial reported that the Ponseti technique significantly improved foot alignment compared to the Kite technique. After 10 weeks of serial casting, the average total Pirani score of the Ponseti group was 1.15 points lower than that of the Kite group (mean difference (MD) -1.15, 95% confidence interval (CI) -1.32 to -0.98; 60 feet; low-certainty evidence). A second trial found the Ponseti technique to be superior to a traditional technique, with mean total Pirani scores of the Ponseti participants 1.50 points lower than after serial casting and Achilles tenotomy (MD -1.50, 95% CI -2.28 to -0.72; 28 participants; very low-certainty evidence). One trial found evidence that there may be no difference between casting materials in the Ponseti technique, with semi-rigid fibreglass producing average total Pirani scores 0.46 points higher than plaster of Paris at the end of serial casting (95% CI -0.07 to 0.99; 30 participants; low-certainty evidence). We found no trials in relapsed or neglected cases of CTEV. A trial in which the type of presentation was not reported showed no evidence of a difference between an accelerated Ponseti and a standard Ponseti treatment in foot alignment. At the end of serial casting, the average total Pirani score in the accelerated group was 0.31 points higher than the standard group (95% CI -0.40 to 1.02; 40 participants; low-certainty evidence). No trial assessed gait using a validated assessment. Health-related quality of life was reported in some trials but data were not available for re-analysis. There is a lack of evidence for the addition of botulinum toxin A during the Ponseti technique, different types of major foot surgery or continuous passive motion treatment following major foot surgery. Most trials did not report on adverse events. Two trials found that further serial casting was more likely to correct relapse after Ponseti treatment than after the Kite technique, which more often required major surgery (risk differences 25% and 50%). In trials evaluating serial casting techniques, adverse events included cast slippage (needing replacement), plaster sores (pressure areas), and skin irritation. Adverse events following surgical procedures included infection and the need for skin grafting.
AUTHORS' CONCLUSIONS
From the evidence available, the Ponseti technique may produce significantly better short-term foot alignment compared to the Kite technique. The certainty of evidence is too low for us to draw conclusions about the Ponseti technique compared to a traditional technique. An accelerated Ponseti technique may be as effective as a standard technique, but results are based on a single small comparative trial. When using the Ponseti technique semi-rigid fibreglass casting may be as effective as plaster of Paris. Relapse following the Kite technique more often led to major surgery compared to relapse following the Ponseti technique. We could draw no conclusions from other included trials because of the limited use of validated outcome measures and the unavailability of raw data. Future RCTs should address these issues.
Topics: Botulinum Toxins, Type A; Casts, Surgical; Clubfoot; Decompression, Surgical; Female; Humans; Infant; Infant, Newborn; Ligaments, Articular; Male; Motion Therapy, Continuous Passive; Neuromuscular Agents; Orthopedic Procedures; Randomized Controlled Trials as Topic; Recurrence; Treatment Outcome
PubMed: 32412098
DOI: 10.1002/14651858.CD008602.pub4 -
Physiological Research Jul 2017Idiopathic pes equinovarus (clubfoot) is a congenital deformity of the foot and lower leg defined as a fixation of the foot in plantar flexion, adduction, supination and... (Review)
Review
Idiopathic pes equinovarus (clubfoot) is a congenital deformity of the foot and lower leg defined as a fixation of the foot in plantar flexion, adduction, supination and varus. The deformity does not affect only the foot position, which is usually investigated by radiography, CT, micro-CT, MRI or ultrasound but logically influence the whole gait biomechanics. It is supposed, that clubfoot belongs to a group of fibroproliferative disorders whose origin and multi-hierarchical effect remain unknown. It has been suggested that fibroblasts and growth factors may be involved. To gain a more global view, direct analysis of the protein composition of extracellular matrix, a proteomic approach was used. At present two principle methods are mostly used for the treatment of clubfoot: physiotherapy and the Ponseti method. The determination of the general biological and biomechanical parameters for various regions of the clubfoot can potentially help in the understanding of the mechanisms participating on this serious anomaly and thus contribute to the development of the more efficient therapeutic approach. This review summarizes the present knowledge on the possible pathogenetic mechanisms participating in the development of the clubfoot and their possible relation to the new therapeutic approaches.
Topics: Clubfoot; Collagen; Exercise Therapy; Fibroblasts; Foot Orthoses; Gait; Humans; Treatment Outcome
PubMed: 28248538
DOI: 10.33549/physiolres.933404 -
Ugeskrift For Laeger Oct 2022Congenital talipes equinovarus or clubfoot is a common birth defect which affects the foot and ankle. In most cases, the underlying cause is unknown. The Ponseti method... (Review)
Review
Congenital talipes equinovarus or clubfoot is a common birth defect which affects the foot and ankle. In most cases, the underlying cause is unknown. The Ponseti method has become the gold standard of treatment for clubfoot. It is a non-invasive technique using series of plaster casts and orthoses. Complementary Achilles tenotomy is usually necessary. However, surgery is generally salvaged for more severe, rigid cases of clubfoot, including syndromic clubfeet arisen in neurological and neuromuscular disorders, which is summarized in this review.
Topics: Achilles Tendon; Casts, Surgical; Child; Clubfoot; Humans; Infant; Orthotic Devices; Tenotomy; Treatment Outcome
PubMed: 36205151
DOI: No ID Found -
Journal of Cellular Biochemistry May 2018RBM10 is an RNA binding motif (RBM) protein expressed in most, if not all, human and animal cells. Interest in RBM10 is rapidly increasing and its clinical importance is... (Review)
Review
RBM10 is an RNA binding motif (RBM) protein expressed in most, if not all, human and animal cells. Interest in RBM10 is rapidly increasing and its clinical importance is highlighted by its identification as the causative agent of TARP syndrome, a developmental condition that significantly impacts affected children. RBM10's cellular functions are beginning to be explored, with initial studies demonstrating a tumor suppressor role. Very recently, however, contradictory results have emerged, suggesting a tumor promoter role for RBM10. In this review, we describe the current state of knowledge on RBM10, and address this dichotomy in RBM10 function. Furthermore, we discuss what may be regulating RBM10 function, particularly the importance of RBM10 alternative splicing, and the relationship between RBM10 and its paralogue, RBM5. As RBM10-related work is gaining momentum, it is critical that the various aspects of RBM10 molecular biology revealed by recent studies be considered moving forward. It is only if these recent advances in RBM10 structure and function are considered that a clearer insight into RBM10 function, and the disease states with which RBM10 mutation is associated, will be gained.
Topics: Alternative Splicing; Animals; Clubfoot; Heart Defects, Congenital; Humans; Mutation; Pierre Robin Syndrome; RNA-Binding Proteins; Structure-Activity Relationship
PubMed: 29274279
DOI: 10.1002/jcb.26644 -
Journal of Pediatric Orthopedics. Part B Jan 2012Modern advances in genetics have allowed investigators to identify the complex etiology of clubfoot. It has become increasingly apparent that clubfoot is a heterogeneous... (Review)
Review
Modern advances in genetics have allowed investigators to identify the complex etiology of clubfoot. It has become increasingly apparent that clubfoot is a heterogeneous disorder with a polygenetic threshold model explaining its inheritance patterns. Several recent genetic studies have identified a key developmental pathway, the PITX1-TBX4 transcriptional pathway, as being important in clubfoot etiology. Both PITX1 and TBX4 are uniquely expressed in the hindlimb, which helps explain the foot phenotype seen with mutations in these transcription factors. Future studies are needed to develop animal models to determine the exact mechanisms by which these genetic abnormalities cause clubfoot and to test other hypotheses of clubfoot pathogenesis.
Topics: Animals; Clubfoot; Disease Models, Animal; Female; Gene Expression Regulation, Developmental; Genetic Predisposition to Disease; Humans; Male; Multifactorial Inheritance; Mutation; Paired Box Transcription Factors; Polymorphism, Single Nucleotide; T-Box Domain Proteins
PubMed: 21817922
DOI: 10.1097/BPB.0b013e328349927c -
Clinical Orthopaedics and Related... May 2009Although clubfoot is one of the most common congenital abnormalities affecting the lower limb, it remains a challenge not only to understand its genetic origins but also... (Review)
Review
UNLABELLED
Although clubfoot is one of the most common congenital abnormalities affecting the lower limb, it remains a challenge not only to understand its genetic origins but also to provide effective long-term treatment. This review provides an update on the etiology of clubfoot as well as current treatment strategies. Understanding the exact genetic etiology of clubfoot may eventually be helpful in determining both prognosis and the selection of appropriate treatment methods in individual patients. The primary treatment goal is to provide long-term correction with a foot that is fully functional and pain-free. To achieve this, a combination of approaches that applies the strengths of several methods (Ponseti method and French method) may be needed. Avoidance of extensive soft-tissue release operations in the primary treatment should be a priority, and the use of surgery for clubfoot correction should be limited to an "a la carte" mode and only after failed conservative methods.
LEVEL OF EVIDENCE
Level V, therapeutic study. See Guidelines for Authors for a complete description of levels of evidence.
Topics: Casts, Surgical; Clubfoot; Combined Modality Therapy; Genetic Predisposition to Disease; Humans; Minimally Invasive Surgical Procedures; Musculoskeletal Manipulations; Orthopedic Procedures; Recurrence; Risk Factors; Tendons; Treatment Outcome
PubMed: 19224303
DOI: 10.1007/s11999-009-0734-9 -
Orthopaedics & Traumatology, Surgery &... Oct 2013The talonavicular (TN) joint and the three subtalar (ST) joints are linked anatomically and functionally. Together they form the subtalar joint complex, where movement... (Review)
Review
The talonavicular (TN) joint and the three subtalar (ST) joints are linked anatomically and functionally. Together they form the subtalar joint complex, where movement occurs between the calcaneopedal unit (CPU) (entire foot except the talus) and the talotibiofibular unit (talus held tightly by the ankle mortise). Many are unaware of the TN joint's dual membership: it is a component of the subtalar joint complex (talocalcaneonavicular joint) and also the transverse tarsal joint (with the calcaneal-cuboid joint). The anatomy of the articulating surfaces, movement of the CPU when unloaded, shifts and changes in CPU shape with weight bearing, application to clinical tests and X-ray interpretation, and the pathophysiology applications to pes cavovarus, pes planovalgus and congenital talipes equinovarus (club foot) will be reviewed here. The CPU concept corresponds to a horizontal segmentation of the foot. This is a useful supplement to the two other segmentation methods: frontal (hindfoot, midfoot and forefoot) and sagittal (medial and lateral columns). This horizontal segmentation solves the issues with the ST joint complex, which straddles the hindfoot and midfoot, and also the issues with the dual membership of the TN joint. This concept makes it easier to understand foot deformities, better interpret the clinical and radiological signs and deduce logical treatments.
Topics: Calcaneus; Clubfoot; Humans; Orthopedic Procedures; Subtalar Joint
PubMed: 23978710
DOI: 10.1016/j.otsr.2013.07.003 -
Genes Sep 2022Background: There are few studies on the detection rate by chromosomal microarray analysis (CMA) of the prenatal diagnosis of talipes equinovarus (TE) compared to...
Background: There are few studies on the detection rate by chromosomal microarray analysis (CMA) of the prenatal diagnosis of talipes equinovarus (TE) compared to conventional karyotyping. We aimed to explore the molecular etiology of fetal TE and examine the detection rate by CMA, which provides more information for the clinical screening and genetic counseling of TE. Methods: In this retrospective study, pregnancies diagnosed with fetal TE were enrolled and clinical data for all cases were retrieved from our medical record database, including demographic data for pregnancies, ultrasound findings, karyotype/CMA results, and pregnant and perinatal outcomes. Results: Among the 164 patients, 17 (10.4%) clinically significant variants were detected by CMA. In 148 singleton pregnancies, the diagnostic rate of clinically significant variants was significantly higher in the non-isolated TE group than in the isolated TE group (10/37, 27.0% vs. 6/111, 5.4%, P < 0.001). In twin pregnancies, 1 (6.3%) pathogenic copy number variant was present in the other 16 twin pregnancies. Conclusions: This study demonstrates that CMA is useful for the prenatal genetic diagnosis of fetal TE. Fetal TE with the associated structural malformation correlates with a higher probability of clinically significant variants. This data may aid prenatal diagnosis and genetic counseling for fetal TE.
Topics: China; Chromosome Aberrations; Chromosome Disorders; Clubfoot; Female; Humans; Microarray Analysis; Pregnancy; Prenatal Diagnosis; Retrospective Studies
PubMed: 36140741
DOI: 10.3390/genes13091573