What Is the Exact Contribution of PITX1 and TBX4 Genes in Clubfoot Development? An Italian Study.

Congenital clubfoot is a common pediatric malformation that affects approximately 0.1% of all births. 80% of the cases appear isolated, while 20% can be secondary or associated with complex syndromes. To date, two genes that appear to play an important role are PTIX1 and TBX4, but their actual impact is still unclear. Our study aimed to evaluate the prevalence of pathogenic variants in PITX1 and TBX4 in Italian patients with idiopathic clubfoot. PITX1 and TBX4 genes were analyzed by sequence and SNP array in 162 patients. We detected only four nucleotide variants in TBX4, predicted to be benign or likely benign. CNV analysis did not reveal duplications or deletions involving both genes and intragenic structural variants. Our data proved that the idiopathic form of congenital clubfoot was rarely associated with mutations and CNVs on PITX1 and TBX4. Although in some patients, the disease was caused by mutations in both genes; they were responsible for only a tiny minority of cases, at least in the Italian population. It was not excluded that other genes belonging to the same TBX4-PITX1 axis were involved, even if genetic complexity at the origin of clubfoot required the involvement of other factors.

Percutaneous Achilles tenotomy using a 18 gauge needle in the treatment of clubfoot with Ponseti method.

Tenotomy is the final step in the corrective phase for the resolution of residual equinus in the Ponseti method of treating clubfoot. There are several methods for obtaining a complete section of the tendon, ranging from mini-open techniques to percutaneous with a scalpel or percutaneous with a large-gauge needle. Since April 2022, Vittore Buzzi Children's Hospital has performed 36 percutaneous tenotomies of the Achilles tendon in 24 patients using the percutaneous large-gauge needle technique. When compared to the traditional percutaneous scalpel tenotomy procedure, the use of this procedure has allowed us to reduce operating room time, where we routinely perform this type of surgery to optimize pain control and patient safety during the procedure. The technique has proven to be simple, safe, and effective in obtaining a complete section of the tendon; there have been no reports of excessive bleeding, pseudoaneurysms, or nerve injury. There were no differences in clinical outcome or recurrences of equinus that required reoperation during the average three-month follow-up from the previously used technique.

From Codivilla to Ponseti: historical narrative review on clubfoot treatment in Italy.

OBJECTIVE: This narrative review aims to summarize the historical steps of clubfoot treatment in Italy, identifying the centuries-old historical advancement in the deformity management and the most influent involved people. BACKGROUND: Clubfoot, also referred to as congenital talipes equinovarus, is a relatively common deformity that has significative consequences in the child if it is left untreated. Effective and early treatment of clubfoot has been praised as one of the most successful practice of modern pediatric orthopedics and both surgical and conservative techniques have been proposed over the decades. As an example, Codivilla's posteromedial release (PMR) has been known internationally as one of the milestones of surgical treatment. METHODS: The narrative review includes clinical studies and reviews concerning clubfoot that were written in English, German and Italian. As an historical review, no limits of years were considered. The search was performed using PubMed, Google Scholar, Scopus, Medline and Cochrane Library databases up to January 2021. A combination of search terms including 'history', 'clubfoot', 'conservative management', 'Codivilla', 'Ponseti method', 'relapse' was utilized. Particular attention was given to papers written by Italian authors. CONCLUSIONS: Current clubfoot treatment arises from several studies and clinical research over the centuries. Many surgeons, starting from mid-16th century, have studied the deformity trying to find a successful and effective technique to achieve full correction. Italian scientists, surgeons and prestigious institutions surely took part in this process.

Synthetic Cast Material Versus Plaster of Paris for the Treatment of Idiopathic Clubfoot by the Ponseti Protocol: A Comparative Analysis of 136 Feet.

BACKGROUND: Synthetic casting materials have been used as alternatives to plaster of Paris (POP) in the treatment of clubfoot using the Ponseti method. The aim of this study was to evaluate the clinical outcome of children with idiopathic clubfoot managed by the Ponseti method using POP versus semirigid fiberglass (SRF). METHODS: Medical records were retrospectively reviewed for all newborns with idiopathic clubfoot who underwent manipulation and casting by the Ponseti technique between January 2013 and December 2016 at 2 different institutions. In all, 136 consecutive clubfeet were included, of which 68 underwent casting with POP (Group A), and 68 were casted using SRF (Group B). Statistical analysis was performed using the Fisher exact test for categorical variables, and the unpaired t test for quantitative parameters. RESULTS: Mean age at time of first cast was 10 days (range, 3 to 21 d). Mean Pirani score at start of treatment was 4.6 and 4.5 in Groups A and B, respectively. Mean number of casts for each patient in Group A was 5.2 against 4.2 in patients in Group B. Mean follow-up was 63.8 months (range, 42 to 88 mo). In each group, 4 cases of relapse were reported (2.9%). No complications related to cast phase or brace phase were recorded. Shorter duration of cast treatment was recorded in Group B. CONCLUSIONS: Despite its higher cost and slightly lower moldability, the use of SRF in experienced hands showed comparable results in idiopathic clubfeet treated by the Ponseti technique. LEVEL OF EVIDENCE: Level III.

Congenital isolated clubfoot: Correlation between prenatal assessment and postnatal degree of severity.

OBJECTIVE: Since prenatal diagnosis of isolated clubfoot has a false positive rate (FP) of 10%-40%, fetal parameters that might correlate with post-natal confirmation and grade of severity were investigated. METHOD: Retrospective analysis (2013-2019) of cases analysed with three-dimensional multiplanar view. The following data were recorded: the angle between the long axis of foot and lower leg; width, length and width-to-length ratio (W/L) of the foot; tibia length and calf width (T/C) ratio. Severity after birth was assessed using the Pirani classification. RESULTS: Diagnosis was confirmed in 45/53 neonates (84.9%, FP 15%). Values were higher for both angle and W/L in true vs false positive cases (median angle 100.4° versus 69.55°, p <.000; median W/L 0.53 vs 0.45, p = .001), no difference for T/C (3.77 vs 3.48, p = .8). The area under the curve for angle was 0.98 (CI 0.94-1.00), with a diagnostic cut-off of 84.7° (PPV of 100%, NPV of 66.7%). Median Pirani score, available for 33 neonates (73.3%) was 3 (IQR 3-4): only angle correlated with Pirani score (Spearman coefficient 0.36, p = .04) CONCLUSION: Measuring the angle between the foot and lower leg can reduce the FP rate of prenatal congenital clubfoot diagnosis and better predict the need for postnatal treatment.

Epilepsy and intrathecal baclofen therapy in children with cerebral palsy.

The objective of this study was to analyze the relationship between epilepsy and intrathecal baclofen by investigating a consecutive sample of 150 children with cerebral palsy or spasticity of cerebral origin who underwent intrathecal baclofen. The medical charts of the 150 children were retrospectively reviewed. A series of 100 children with cerebral palsy, operated on other procedures, was reviewed as a control group. Forty percent of the 150 children had epilepsy before intrathecal baclofen pump implantation; 13.3% had a decrease in seizure frequency after intrathecal baclofen, while two children worsened and one child had seizures ex novo. We conclude that in children with spasticity of cerebral origin, intrathecal baclofen does not seem to aggravate or induce seizure activity.