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

Are Pedobarographic and Gait Analyses Useful Tools to Evaluate Outcomes of Anterograde Calcaneo-Stop Procedure in Pediatric Symptomatic Flexible Flatfoot?

Background: Flexible flatfoot is a frequent condition in childhood that needs to be treated when symptomatic. The aim of this study was to analyze pedobarographic and gait outcomes of patients with painful flexible flatfoot who underwent the anterograde calcaneo-stop procedure. Methods: All patients scheduled for surgical correction of painful flexible flatfoot between April and September 2011 were offered to participate in a study of dynamic pedobarographic and gait analyses before surgery and 3, 12, and 24 months after surgery. A healthy control group of similar age and physical characteristics also underwent dynamic pedobarographic and gait analyses. Results: Fifteen patients accepted to undergo dynamic pedobarography and gait analyses. The data were compared with fifteen controls of similar age and BMI. No significant differences were found on dynamic pedobarography within patients at different endpoints, except for a decreased percentage of plantigrade phase and increased percentage of digitigrade phase at 12 months post-op in comparison with 3 months post-op, nor when compared with control. Similarly, when range of motion was taken into consideration, no significant differences were found within patients at different endpoints, nor when compared with control, except for a decrease in ankle joint range of motion 24 months post-op in comparison with the controls. The stride was significantly decreased before surgery and became like controls 24 months after the procedure. The cadence, significantly decreased 24 months after surgery in comparison with the pre-surgical set, was similar to the controls. No significant differences were seen in the walking speed within patients at different endpoints and the controls. The cycle time significantly increased 24 months after surgery when compared to the pre-op situation, and was similar to the controls. Conclusion: Dynamic pedobarographic and gait analyses were useful not only to identify the gait impairment in patients with symptomatic flexible flatfoot, but also to measure the treatment outcome through the analysis of the surgery’s impact on the gait quality

The Management of Toe Walking in Children with Autism Spectrum Disorder: <i>“Cast and Go”</i>

Background: Toe walking is associated with autism spectrum disorders (ASD). Correction of this “behavior” is a health challenge. The toe walker is affected by the contact refusal with the outside world: touching the ground as little as possible, trying to avoid any contact. A structured equines foot is a possible consequence. Method: We present the “Cast and Go” protocol, used in 22 idiopathic toe walker children with ASD treated from 2015 to 2020. The treatment was performed by a single senior experienced doctor with botulinum injection, ankle casts and rehabilitative therapies. All patients underwent pre- and post-treatment clinical evaluation using ankle dorsiflexion angle and casting number as treatment. We aimed to identify the intervention with the shortest acquisition time for the management of toe walking. Results: Our findings demonstrated the baseline ankle dorsiflexion angle influenced the casting number (p p < 0.01). No adverse events were observed. Conclusions: These findings suggested that the “Cast and Go” protocol could be a promising, dynamic and effective practice for toe walking disease in ASD patients

Quality of life in flexible painful flatfoot treated by anterograde calcaneo-stop procedure: The patient's and family's perspective.

PurposeThis study aimed to evaluate the quality of life and satisfaction about the surgical treatment in patients with symptomatic flexible flatfoot.MethodsThe Oxford Ankle Foot Questionnaire for children (one to fill in before the surgical correction and another 6-12 months after the screw's removal), the PedsQLTM Healthcare Satisfaction Generic Module and the PedsQLTM General Well-Being Scale were administered to all patients who underwent the anterograde calcaneo-stop procedure for flexible painful flatfoot between January 2012 and December 2015.ResultsOne hundred forty patients were sent the questionnaires and 74 (40 male and 34 female) of them responded. The surgical correction was performed at a medium age of 11,84±1,65 years. When the Oxford Ankle Foot Questionnaire for children scores before surgical correction and after the screw removal were compared, the latter scored significantly higher for all domains. Healthcare satisfaction was good in all families. Most of the patients scored medium-high on the PedQLTM General Well-Being both when asked about themselves (mean 86,50±7,44) and in general about their health (76,06±12,32).ConclusionOur results confirmed that flexible painful flatfoot is significantly affecting the quality of life of children and that the anterograde calcaneo-stop procedure is a valuable technique, which improves their quality of life and the family wellbeing

Incidence of Congenital Clubfoot: Preliminary Data from Italian CeDAP Registry

7(1) Background: We find the incidence of clubfoot in Italy from “Certificate of Delivery Care Registry (CeDAP)”, a database of the Italian Ministry of Health, the most comprehensive public data available for this purpose. (2) Methods: The CeDAP registry is a web system that provides epidemiological and sociodemographic information about newborns. It started on 1 January 2002, following the ministerial Decree no. 349 of 16 July 2001. The certificate is structured into six sections; each collects specific information referring to the birthplace, parents, pregnancy, childbirth, newborn, and the possible presence of congenital malformations or the causes of neonatal mortality. The midwife or the doctor draws up the certificate no later than ten days after birth. Each region transmits the data every six months to the Ministry of Health. The period between 2013 and 2017 has been selected for the study, with every Italian region’s data. We conducted a retrospective descriptive study. (3) Results: The overall rate in northern Italy is 1.09 (with some exceptions described), but we think it is essential to reevaluate this number again, given more accurate data collections by every Italian hospital. (4) Conclusions: This study intends to build a framework for future epidemiologic studies about clubfoot in Italy.openopenDibello, Daniela; Torelli, Lucio; Di Carlo, Valentina; d’Adamo, Adamo Pio; Faletra, Flavio; Mangogna, Alessandro; Colin, GiuliaDibello, Daniela; Torelli, Lucio; Di Carlo, Valentina; D’Adamo, Adamo Pio; Faletra, Flavio; Mangogna, Alessandro; Colin, Giuli

A Spotted Bone

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Green and Catalytic Synthesis of Dominicalure I, Major Component of the Aggregation Pheromone of <i>Rhyzopertha dominica</i> (Fabricius) (Coleoptera: Bostrichidae)

<div><p></p><p>A new concise and efficient catalytic synthesis of dominicalure I, the male-produced aggregation pheromone of the grain borer <i>Rhyzopertha dominica</i>, is herein reported. The synthetic route was designed starting from easily available propanal through an organocatalytic key step and completed with biocatalytic procedures.</p></div

Painful swelling of the clavicle

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How to Cope with the Ponseti Method for Clubfoot: The Families&rsquo; Standpoint

(1) Background: The Ponseti Method is the gold standard for the treatment of congenital clubfoot. It is a low-cost treatment consisting in a series of plaster casts, a percutaneous Achilles&rsquo; tenotomy and a Mitchell Ponseti brace to wear with a definite protocol. This treatment allows children to be with their families instead of being hospitalized. This advantage is also a challenge for the families that have to follow the protocol at home. This paper aims to analyze the perception, the difficulties and the overcomes of the families during the treatment. (2) Methods: We used a 41 questions questionnaire by Nogueira and Morquende. Questions were answered by families who had already finished the treatment or were still following it. (3) Results: We interviewed 92 families. The worst handling phase appeared to be the cast phase, while the brace seemed more bearable. In total, 57 families overrated tenotomy; (4) Conclusions: Families perceived the Ponseti Method as a quality treatment. The anxiety about the diagnosis played a strong role, but none of the difficulties encountered decreased the treatment outcomes or affected families&rsquo; adherence to the protocol. The open-ended answers highlighted that the positive relationship with doctors played a key role in the everyday compliance and the achievement of good results