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BackgroundThe Ponseti method is the standard of care for managing idiopathic congenital talipes equinovarus (clubfoot) in the outpatient setting, but there are no clinical guidelines for inpatient treatment. Children in the neonatal intensive care unit (NICU) with clubfoot often delay treatment initiation due to medical reasons.MethodsWe systematically reviewed literature related to the treatment of clubfoot in the NICU, non-idiopathic clubfoot, and older infants, as well as barriers to care.ResultsIn a mixed NICU population of syndromic and idiopathic clubfoot, the Ponseti method has good functional outcomes with minimal interference with medical management. The Ponseti method has good functional outcomes with reduced need for extensive surgical procedures in non-idiopathic clubfoot and idiopathic clubfoot with delayed presentation (under one year of age).ConclusionsIt is possible to begin Ponseti treatment in the NICU without compromising medical management. It is not clear if this confers an advantage over waiting for outpatient casting.

Assessment of conservative treatment using the Ponseti method in children with congenital talipes equino- varus (clubfoot), diagnosed and treated as outpatients in the ambulatory clinic of the County Hospital from Suceava, Romania. Retrospective study over a 2-year tine interval (2021-2023) including children with idiopathic clubfoot who were treated in the Pediatric Surgery Ambulatory Clinic. Demographic information, (age, sex), clinical data related to the TEV and detailed information regarding the treatment using the Ponseti method were analyzed. Only cases of idiopathic clubfoot who entirely received their treatment in our clinic were included in the study. 44 children with clubfoot were identified, of which only 20 (16 boys and 4 girls) met the inclusion criteria; 15 patients had bilateral clubfoot and 5 had unilateral clubfoot. The number of corrective cast immobilizations before Achilles’ tendon tenotomy was 4 in 2 children, 5 in 16 children, and 6 in 2 children. Patients were evaluated and monitored by means of the Pirani score, applied at the beginning of treatment and before tenotomy. The tenotomy was followed by cast immobilization for 21 days. Dennis Browne orthosis was subsequently applied. Only one patient abandoned the treatment after applying 5 casts, just before tenotomy. In one patient the equinus correction was incomplete. There were no operative or cast-related complications. The Ponseti method can be performed, with very good results as outpatient treatment. It requires an appropriate trained orthopedic team (orthopedic surgeon, nurse and prosthetic specialist) with experience in carrying out this type of treatment, adequate equipment and compliance from the parents.

The letter to the editor addresses the challenges in distinguishing between congenital vertical talus (CVT) and oblique talus during the intrauterine period. Both conditions share similarities in presentation, making accurate diagnosis difficult. The treatment approaches for CVT and oblique talus differ significantly, emphasizing the importance of correct diagnosis. Prenatal imaging techniques may not provide the necessary clarity for differentiation, highlighting the need for further research and awareness in this area. [Extracted from the article]

Background: Idiopathic clubfoot deformity is a relatively common congenital pediatric foot deformity. A percutaneous Achilles tenotomy (PAT) is required to correct the equinus deformity as it is the most resistant component of clubfoot deformity. Although this procedure is mainly performed with local anesthesia, performing this procedure with general anesthesia has significant advantages. Aims: The purpose of this study was to compare the safety and efficacy of post-procedural pain management of PAT in the treatment of clubfoot with the Ponseti method when performed in a clinic setting with local anesthetic or under general anesthesia Methods: This is a multicentric prospective observational evaluation on children less than one year of age with idiopathic clubfoot whom referred for Ponseti casting and PAT. This procedure was done in the control group with local anesthesia and in the intervention group with Sevoflurane mask 8% (MAC 2) and maintenance of anesthesia with Sevoflurane mask 4% (N2O/O2, 50%). The neonatal infant pain scale (NIPS), the amount of milk, and mood changes were evaluated as a criterion to measure the pain level. Results: NIPS score in the intervention group was significantly lower than the control group. Children in the intervention group consume significantly more milk than the control group. Furthermore, 76% of children in the intervention group were classified as "calm," 24% as "relatively restless," and no child was classified as "severely restless." While in the control group, 54% of children were classified as "severely restless," and the remaining 46% as "relatively restless." Conclusion: Our result showed that using general anesthesia to perform achillotomy in the treatment of clubfoot in children could be associated with less pain in these patients and without significant complications.

Cleft foot is a rare congenital anomaly characterized by a central conical defect and deficiency of the foot rays. Syndactyly is the fusion of the skin with or without the bone of adjacent digits, and it may be associated with syndrome-related cleft foot. The aim of the treatment of cleft foot and syndactyly is to obtain a normal form and function by closing the cleft defect, obtaining symmetrical and cosmetic feet, allowing patients to wear normal shoes comfortably, and preventing collapse and angulation deformities of the toes. In this study, the treatment of congenital cleft foot and syndactyly coexistence is presented, and it is demonstrated that excess skin after soft-tissue syndactylization of the cleft foot can be used to reconstruct syndactyly defects. [ABSTRACT FROM AUTHOR]

Background: With the advancement of molecular technology, fetal talipes equinovarus (TE) is believed to be not only associated with chromosome aneuploidy, but also related to chromosomal microdeletion and microduplication. The study aimed to explore the molecular etiology of fetal TE and provide more information for the clinical screening and genetic counseling of TE by Chromosomal Microarray Analysis (CMA). Methods: This retrospectively study included 131 fetuses with TE identified by ultrasonography. Conventional karyotyping and SNP array analysis were performed for all the subjects. They were divided into isolated TE group (n = 55) and complex group (n = 76) according to structural anomalies. Results: Among the total of 131 fetuses, karyotype analysis found 12(9.2%) abnormal results, while SNP array found 27 (20.6%) cases. Trisomy 18 was detected most frequently among abnormal karyotypes. The detection rate of SNP array was significantly higher than that of traditional chromosome karyotype analysis (P < 0.05). SNP array detected 15 (11.5%) cases of submicroscopic abnormalities that karyotype analysis did not find. The most common CNV was the 22q11.2 microdeletion. For both analyses, the overall detection rates were significantly higher in the complex TE group than in the isolated TE group (karyotype: P < 0.05; SNP array: P < 0.05). The incremental yield of chromosomal abnormalities in fetuses with unilateral TE (22.0%) was higher than in fetuses with bilateral TE (19.8%), but this difference was not statistically significant (P > 0.05). Abnormal chromosomes were most frequently detected in fetuses with TE plus cardiovascular system abnormalities. Conclusion: Fetal TE is related to chromosomal microdeletion or microduplication. Prenatal diagnosis is recommended for fetuses with TE, and CMA testing is preferred. CMA can improve the detection rate of chromosomal abnormalities associated with fetal TE, especially in pregnancies with complex TE. [ABSTRACT FROM AUTHOR]

Background: The orthopedic treatment of the stiff clubfoot is challenging for clinicians, and the purpose of this study was to explore the preliminary findings of 3D printing-assisted patient-specific instrument (PSI) osteotomy guide for use in the orthopedic treatment of the stiff clubfoot. Material and methods: There were 20 patients (25 feet) with stiff clubfoot admitted from December 2018 to June 2022, including 13 males (16 feet) and 7 females (9 feet), aged 24–52 years, mean 40.15 years; 8 left feet, 7 right feet, 5 bipedal. All patients underwent triple arthrodesis and were divided into 10 cases (12 feet) in the PSI group (n = 12) and 10 cases (13 feet) in the conventional surgery group (n = 13) according to the surgical approach. The duration of surgery and the number of radiation exposures were recorded in all cases, and the American Orthopedic Foot and Ankle Society (AOFAS), and International Congenital Clubfoot Study Group (ICFSG) scoring systems were applied postoperatively to assess the effect of corrective treatment. All measurement data were expressed as mean ± standard deviation, and differences between groups were determined by Student's t test. All count data between the two groups were compared using the chi-square test or Fisher's exact test analysis. Results: All 20 patients (25 feet) were followed up for 1 year. No major complications related to osteotomy, such as overcorrection, incomplete correction, or bone nonunion, were observed in the PSI and conventional surgery groups at the final follow-up, and the PSI group had the advantage of shorter operative time (P < 0.01), less radiation exposure (P < 0.01), and higher excellent rate compared with the conventional surgery group. The AOFAS score (P > 0.05) and ICFSG score (P > 0.05) at the last follow-up were not statistically significant in both groups, but the excellent rate at the last follow-up was 91.7% in the PSI group which was significantly higher than that of the conventional surgery group at 76.9%. Conclusions: The utilization of 3D printing-assisted PSI osteotomy guide in orthopedic surgery for stiff clubfoot offers a safe and effective surgical tool for triple joint fusion treatment. This technology simplifies surgical procedures, minimizes intraoperative radiation exposures, reduces surgical time, and enables precise and personalized treatment. [ABSTRACT FROM AUTHOR]

Background: Congenital talipes equinovarus (CTEV), also known as club foot deformity, is a common deformity with an estimated incidence of around 1 in 1000 live births. The deformity consists of four components: Ankle equinus, hindfoot varus, forefoot adductus, and midfoot cavus. Various approaches exist to correct CTEV, with most authorities advocating a conservative closed reduction approach with serial casting. Objective: Pirani scoring has been shown to correlate with the severity of CTEV and has been verified to track response to casting treatment. This study aimed to identify the relationship between initial presenting Pirani scores and other factors on the final Pirani score and the need for surgical intervention for patients managed with Ponseti casting in a single-center observational study design. Methods: A total of 24 patients were followed across the duration of the study and serially assessed with the Pirani scoring system. The scores were charted and studied to determine patterns that predict the success of Ponseti casting in those children. Results: The data showed that tenotomy is most likely corrective of the deformity in those with higher PS. While the age of diagnosis and age of casting were not significantly impactful, careful follow-up and discussion of goals with the family members are essential for expected outcomes, especially for those hesitant to undergo surgical interventions and those with higher Pirani Scores. [ABSTRACT FROM AUTHOR]

Purpose: Complex rigid foot deformities include three-plane deformities and usually presents with poor soft tissue coverage. In the last decades, gradual correction with computer-assisted fixator became an appropriate option for the treatment rigid foot deformities. This study aims to report our experience about treatment of complex foot deformities using Smart Correction fixator system®. Methods: We retrospectively analyzed 13 complex rigid foot deformities of ten consecutive patients treated with Smart Correction fixator system® from 2016 to 2020. Primary outcomes were classified as good, fair, and poor according to previously determined criteria. The outcomes were also assessed with The Manchester-Oxford Foot Questionnaire (MOXFQ). Non-parametric analysis (Wilcoxon test) for continuous variables and the Fisher's exact test for categorical variables were used. Results: Plantigrade foot was achieved in all patients after correction program. Supramalleolar osteotomy was applied in nine feet, midfoot osteotomy was applied in two feet, hindfoot osteotomy was required in one foot, and only soft tissue distraction performed in two feet. Two patients had recurrent deformity managed by further acute corrections. The mean MOXFQ scores improved from 72.7 preoperatively to 24.8 at last follow-up. Conclusions: Present study shows that SCF the reliable option for the treatment of complex foot deformities, which also facilitates three-plane correction and concomitant lengthening with gradual soft tissue balance. [ABSTRACT FROM AUTHOR]

Introduction: Neglected clubfoot deformities are very rigid & stiff that need surgical correction. Unlike countries like china, Uganda, and Malawi, no dedicated National program has been implemented for clubfoot management in India. The burden of disability from untreated or partly treated clubfoot is relatively high. With the existing issues, it has been observed that untreated clubfoot is a public health problem in most low and middle-income countries. Objective: To conduct an observational analysis of the community approach to the correction of neglected clubfoot by corrective rehabilitation surgery camps. Methods: The study included the retrospective data of all the neglected clubfoot children who had undergone clubfoot corrective surgery in 13 different remote districts of Odisha, held every year between February 2014 to October 2022 except during covid 19 pandemic period (2020 and 2021). A total of 993 clubfeet of 731 children were corrected through community approach-based corrective camp surgery. Follow-up was done for all the operated children with post-op plaster and orthosis till they returned back to the community. Results: About 46.78% of study participants were within the age group of 5 years. Male presentation [454 males (62.10%)] was reportedly found 1.6 times higher than the female [277 females (37.89%)]. Most of them belonged to minor communities, socially and economically backward classes from various rural districts of eastern India. The Association of different socially backward categories of clubfoot children with the district they belonged to, was found significant statistically (p value < 0.001). When gender distribution was compared among the district where surgical camps were conducted, the association was statistically not significant (p value = 0.676). Conclusion: Neglected clubfoot in rural areas can be managed by camp approach. The establishment of a robust standard operating procedure for the conduction of community-based surgical camps may be required to reduce the morbidity level in children with neglected clubfoot. [ABSTRACT FROM AUTHOR]

Introduction: Overcorrection is a possible complication of clubfoot treatment, whose prevalence varies from 5 to 67%. Overcorrected clubfoot usually presented as a complex flatfoot with different degrees of hindfoot valgus, flat top talus, dorsal bunion, and dorsal navicular subluxation. The management of clubfoot overcorrection is challenging, and both conservative and surgical treatments are available. This study aims to present our experience in the surgical management of overcorrected clubfoot and to provide an overview of actual treatment options for each specific sub-deformity. Materials and methods: A retrospective cohort study of patients surgically treated for an overcorrected clubfoot from 2000 to 2015 at our Institution was conducted. Surgical procedures were tailored to the type and symptomatology of the deformity. A medializing calcaneal osteotomy or subtalar arthrodesis was performed for hindfoot valgus. Subtalar and/or midtarsal arthrodesis were considered in cases of dorsal navicular subluxation. The first metatarsus elevatus was addressed through a proximal plantarflexing osteotomy, sometimes associated with a tibialis anterior tendon transfer. Clinical scores and radiographic parameters were obtained pre-operatively and at the last follow-up. Results: Fifteen consecutive patients were enrolled. The series included 4 females and 11 males, with a mean age at surgery of 33,1 (18–56) years, and a mean follow-up of 4,46 (2–10) years. Seven medializing calcaneal osteotomies, 5 subtalar arthrodesis, 11 first metatarsal plantarflexing osteotomies, and 7 anterior tibialis tendon transfers were performed. A statistically significant improvement in both clinical and radiographic scores was observed. Conclusions: Management of overcorrected clubfoot involves many surgical techniques because of the high interpersonal variability of the deformities. The surgical approach showed positive results, as long as the indication is based on clinical symptoms and functional impairment rather than morphological alterations and radiographic findings. [ABSTRACT FROM AUTHOR]

Introduction: Overcorrection is a possible complication of clubfoot treatment, whose prevalence varies from 5 to 67%. Overcorrected clubfoot usually presented as a complex flatfoot with different degrees of hindfoot valgus, flat top talus, dorsal bunion, and dorsal navicular subluxation. The management of clubfoot overcorrection is challenging, and both conservative and surgical treatments are available. This study aims to present our experience in the surgical management of overcorrected clubfoot and to provide an overview of actual treatment options for each specific sub-deformity. Materials and methods: A retrospective cohort study of patients surgically treated for an overcorrected clubfoot from 2000 to 2015 at our Institution was conducted. Surgical procedures were tailored to the type and symptomatology of the deformity. A medializing calcaneal osteotomy or subtalar arthrodesis was performed for hindfoot valgus. Subtalar and/or midtarsal arthrodesis were considered in cases of dorsal navicular subluxation. The first metatarsus elevatus was addressed through a proximal plantarflexing osteotomy, sometimes associated with a tibialis anterior tendon transfer. Clinical scores and radiographic parameters were obtained pre-operatively and at the last follow-up. Results: Fifteen consecutive patients were enrolled. The series included 4 females and 11 males, with a mean age at surgery of 33,1 (18–56) years, and a mean follow-up of 4,46 (2–10) years. Seven medializing calcaneal osteotomies, 5 subtalar arthrodesis, 11 first metatarsal plantarflexing osteotomies, and 7 anterior tibialis tendon transfers were performed. A statistically significant improvement in both clinical and radiographic scores was observed. Conclusions: Management of overcorrected clubfoot involves many surgical techniques because of the high interpersonal variability of the deformities. The surgical approach showed positive results, as long as the indication is based on clinical symptoms and functional impairment rather than morphological alterations and radiographic findings. [ABSTRACT FROM AUTHOR]

Background: Achilles tendon tenotomy is an integral part of the Ponseti method, aimed at correcting residual equinus and lack of dorsiflexion after correction of the adductus deformity in clubfoot. Percutaneous tenotomy using a number 15 scalpel blade is considered the gold standard, resulting in excellent results with minimal complications. The use of a large-bore needle to perform Achilles tendon tenotomies has been described in literature, but a large-scale randomized controlled trial is currently lacking. In this trial, we aim to show the non-inferiority of the needle tenotomy technique compared to the gold standard blade tenotomy technique. Methods: We will randomize 244 feet into group A: needle tenotomy or group B: blade tenotomy. Randomization will be done using a block randomization with random block sizes and applying a 1:1 allocation to achieve an intervention and control group of the exact same size. Children will be evaluated at 3 weeks and 3 months post-tenotomy for primary and secondary clinical outcomes. The primary clinical outcome will be the range of dorsiflexion obtained the secondary clinical outcomes will be frequency of minor and major complications and Pirani score. The non-inferiority margin was set at 4°, and thus, the null hypothesis of inferiority of the needle technique will be rejected if the mean difference between both techniques is less than 4°. The statistical analysis will use a multi-level mixed effects linear regression model for the primary outcomes and a multi-level mixed effects logistic regression model for the secondary clinical outcomes. The physician performing the evaluations post-tenotomy will be the only one blinded to group allocation. Trial registration: This trial was registered prospectively with ClinicalTrials.gov registration number: NCT04897100 on 21 May 2021. [ABSTRACT FROM AUTHOR]

Background: Limited diagnostic capabilities, resources and health worker skills have deterred the advancement of birth defects surveillance systems in most low- and middle-income countries (LMICs). Empowering health workers to identify and diagnose major external birth defects (BDs) is crucial to establishing effective hospital-based BD surveillance. Makerere University-Johns Hopkins University (MU-JHU) Research Collaboration BD Surveillance System consists of three diagnostic levels: (1) surveillance midwives, (2) MU-JHU clinical team, and (3) U.S. Centers for Disease Control and Prevention (CDC) birth defects subject matter experts (SMEs) who provide confirmatory diagnosis. The diagnostic concordance of major external BDs by surveillance midwives or MU-JHU clinical team with CDC birth defects SMEs were estimated. Methods: Study staff went through a series of trainings, including birth defects identification and confirmation, before surveillance activities were implemented. To assess the diagnostic concordance, we analyzed surveillance data from 2015 to 2021 for major external BDs: anencephaly, iniencephaly, encephalocele, spina bifida, craniorachischisis, microcephaly, anophthalmia/microphthalmia, anotia/microtia, cleft palate alone, cleft lip alone, cleft lip with cleft palate, imperforate anus, hypospadias, talipes equinovarus, limb reduction, gastroschisis, and omphalocele. Positive predictive value (PPV) as the proportion of BDs diagnosed by surveillance midwives or MU-JHU clinical team that were confirmed by CDC birth defects SMEs was computed. PPVs between 2015 and 2018 and 2019–2021 were compared to assess the accuracy of case diagnosis over time. Results: Of the 204,332 infants examined during 2015–2021, 870 infants had a BD. Among the 1,245 BDs identified, 1,232 (99.0%) were confirmed by CDC birth defects SMEs. For surveillance midwives, PPV for 7 of 17 BDs was > 80%. For the MU-JHU clinical team, PPV for 13 of 17 BDs was > 80%. Among surveillance midwives, PPV improved significantly from 2015 to 2018 to 2019–2021, for microcephaly (+ 50.0%), cleft lip with cleft palate (+ 17.0%), imperforate anus (+ 30.0%), and talipes equinovarus (+ 10.8%). Improvements in PPV were also observed among MU-JHU clinical team; however, none were significant. Conclusion: The diagnostic accuracy of the midwives and clinical team increased, highlighting that BD surveillance, by front-line health care workers (midwives) in LMICs is possible when midwives receive comprehensive training, technical support, funding and continuous professional development. [ABSTRACT FROM AUTHOR]

Background: Congenital talipes equinovarus (clubfoot) is a common musculoskeletal anomaly, with a suspected multifactorial etiopathogenesis. Herein, we used publicly available data to ascertain liveborn infants with clubfoot delivered in Denmark during 1994–2021, and to classify co-occurring congenital anomalies, estimate annual prevalence, and compare clubfoot occurrence with maternal smoking rates, a commonly reported risk factor. Characterizing this nationwide, liveborn cohort provides a population-based resource for etiopathogenic investigations and life course surveillance. Methods: This case-cohort study used data from the Danish National Patient Register and Danish Civil Registration System, accessed through the publicly available Danish Biobank Register, to identify 1,315,282 liveborn infants delivered during 1994–2021 in Denmark to Danish parents. Among these, 2,358 infants (65.1% male) were ascertained with clubfoot and classified as syndromic (co-occurring chromosomal, genetic, or teratogenic syndromes) and nonsyndromic (isolated or co-occurring multiple congenital anomalies [MCA]). Annual prevalence estimates and corresponding 95% confidence intervals (CIs) for children with nonsyndromic clubfoot were estimated using Poisson regression and compared with population-based, maternal annual smoking rates obtained from publicly available resources. Results: Infants most often presented with nonsyndromic clubfoot (isolated = 88.6%; MCA = 11.4%); limb and heart anomalies were the most frequently identified MCAs. Prevalence (per 1,000 liveborn infants) was 1.52 (CI 1.45–1.58) for isolated and 0.19 (CI 0.17–0.22) for MCA clubfoot. Prevalence estimates for both isolated and MCA clubfoot remained relatively stable during the study period, despite marked decreases in population-based maternal smoking rates. Conclusions: From 1994 to 2021, prevalence of nonsyndromic clubfoot in Denmark was relatively stable. Reduction in population-level maternal smoking rates did not seem to impact prevalence estimates, providing some support for the suspected multifactorial etiopathogenesis of this anomaly. This nationwide, liveborn cohort, ascertained and clinically characterized using publicly available data from the Danish Biobank Register, provides a population-based clinical and biological resource for future etiopathogenic investigations and life course surveillance. [ABSTRACT FROM AUTHOR]

Introduction: Cleft lip and palate (CLP) are the most common congenital craniofacial deformities that can cause a variety of dental abnormalities in children. The purpose of this study was to predict the maxillary arch growth and to develop a neural network logistic regression model for both UCLP and non-UCLP individuals. Methods: This study utilizes a novel method incorporating many approaches, such as the bootstrap method, a multi-layer feed-forward neural network, and ordinal logistic regression. A dataset was created based on the following factors: socio-demographic characteristics such as age and gender, as well as cleft type and category of malocclusion associated with the cleft. Training data were used to create a model, whereas testing data were used to validate it. The study is separated into two phases: phase one involves the use of a multilayer neural network and phase two involves the use of an ordinal logistic regression model to analyze the underlying association between cleft and the factors chosen. Results: The findings of the hybrid technique using ordinal logistic regression are discussed, where category acts as both a dependent variable and as the study's output. The ordinal logistic regression was used to classify the dependent variables into three categories. The suggested technique performs exceptionally well, as evidenced by a Predicted Mean Square Error (PMSE) of 2.03%. Conclusion: The outcome of the study suggests that there is a strong association between gender, age, and cleft. The difference in width and length of the maxillary arch in UCLP is mainly related to the severity of the cleft and facial growth pattern. [ABSTRACT FROM AUTHOR]

Objectives: To describe a case of prenatal diagnosis of Freeman-Sheldon syndrome based on ultrasound findings and complete fetal exome sequencing. Materials and methods: A 33-year-old woman currently on treatment for hypothyroidism in whom a 19-week detailed anatomical ultrasound scan showed fetal deformities in more than two body areas (upper and lower limbs), suggesting a diagnosis of arthrogryposis. Genetic counseling was provided and amniocentesis was performed at 20 weeks for fluorescence in situ hybridization (FISH) analysis and complete fetal exome sequencing, with the latter allowing the identification of a heterozygous pathogenic variant of the MYH3 gene which is associated with type 2A distal arthrogryposis. Conclusions: Complete fetal exome sequencing was a key factor in identifying the MYH3 gene mutation and confirmed that the deformities seen on ultrasound were associated with type 2A distal arthrogryposis. It is important to perform complete fetal exome sequencing in cases of joint malformations seen on prenatal ultrasound. [ABSTRACT FROM AUTHOR]

Introduction: The treatment of complex atypical clubfoot poses many challenges. In this paper, we report on the course of complex clubfoot, primary correction using the modified Ponseti method and midterm outcomes. Special consideration is given to clinical and radiological changes in cases of relapse. Materials and methods: Twenty-seven cases of complex, atypical, non-syndromic clubfoot were treated in 16 children between 2004 and 2012. Patient data, treatment data, functional outcomes and, in the relapse cohort, radiological findings were documented during the course of treatment. The radiological findings were correlated with the functional outcomes. Results: All atypical complex clubfeet could be corrected using a modified form of the Ponseti method. Over an average study period of 11.6 years, 66.6% (n = 18) of clubfeet relapsed. Correction after relapse showed an average dorsiflexion of 11.3° during a 5-years' follow-up period. Radiological results showed residual clubfoot pathologies such as a medialized navicular bone in four clubfeet. There were no instances of subluxation or dislocation of the talonavicular joint. Extensive release surgery was not necessary. Nevertheless, after 2.5 preoperative casts (1–5 casts), bone correction was performed in n = 3 feet in addition to Achilles tendon lengthening and tibialis anterior tendon transfer. Conclusion: Good primary correction of complex clubfoot using the modified Ponseti technique results in a high recurrence rate in the medium term. Relapse treatment without peritalar arthrolysis procedures produces good functional results even though minor residual radiological pathologies did persist in a minor number of cases. [ABSTRACT FROM AUTHOR]

Objective This study aimed to describe lethality of birth defects (BDs) in newborns categorized by gestational age and birth weight and to identify BDs associated with prematurity. Study Design Live born infants (n = 16,452) with isolated BDs classified by severity, and 42,511 healthy controls were assigned to categories: adequate growth, preterm, or small for gestational age (SGA). Proportion of cases and BDs' lethality rates were obtained by category and compared with controls. Results Overall fewer malformed than nonmalformed infants were of adequate growth, while the opposite occurred in the preterm and SGA categories where gastroschisis and esophageal atresia were among the most outstanding defects. For most severe BDs, the early neonatal death rate was higher than control values in all categories; for mild defects, except cleft lip in the preterm category, they did not differ. Diaphragmatic hernia showed the highest lethality values, while those of spina bifida were among the lowest. Talipes, hypospadias, and septal heart defects were mild defects significantly associated with prematurity. Conclusion Although reasons, such as induced preterm delivery of fetuses with certain anomalies, could partially account for their high prematurity rates, susceptibility to preterm birth might exist through underlying mechanisms related with the defects. The identification of BDs associated with prematurity should serve to improve measures that prevent preterm birth especially of fetuses at risk. Key Points Some BDs predispose to prematurity. Prematurity is an additional risk factor for mortality in infants with mild defects. Lethality values should be adjusted by gestational age and birth weight. [ABSTRACT FROM AUTHOR]

· Expansion of the phenotypic spectrum of neuromuscular glycogen storage disease type IV (GSD IV). · Antenatal neuromuscular GSD IV is not unequivocally lethal in the neonatal period. · Neuromuscular GSD IV and can mimic a congenital myopathy and cause limb girdle weakness. · Diagnosis of GSD IV is possible without polyglucosan bodies detected on muscle biopsy. Glycogen storage disease type IV (GSD IV) is caused by mutations in the glycogen branching enzyme 1 (GBE1) gene and is characterized by accumulation of polyglucosan bodies in liver, muscle and other tissues. We report three cases with neuromuscular forms of GSD IV, none of whom had polyglucosan bodies on muscle biopsy. The first case had no neonatal problems and presented with delayed walking. The other cases presented at birth: one with arthrogryposis, hypotonia, and respiratory distress, the other with talipes and feeding problems. All developed a similar pattern of axial weakness, proximal upper limb weakness and scapular winging, and much milder proximal lower limb weakness. Our cases expand the phenotypic spectrum of neuromuscular GSD IV, highlight that congenital myopathy and limb girdle weakness can be caused by mutations in GBE1, and emphasize that GSD IV should be considered even in the absence of characteristic polyglucosan bodies on muscle biopsy. [ABSTRACT FROM AUTHOR]

Introduction: This study prospectively investigated the pain response and physiological parameters [heart rate (HR) and oxygen saturation (SpO2)] during sequential casting in bilateral clubfoot. Additionally, it explored the role of non-nutritive sucking and human care contact on the observed responses during casting. Methods: Subjects were allotted to control group (Group A with no intervention) and two intervention groups (Group B: non-nutritive sucking intervention, Group C: human care contact intervention). Neonatal Infant Pain Score (NIPS), heart rate (HR), and oxygen saturation (SpO2) were used to assess the response. Results: The three groups matched in age and gender characteristics of the participants. Pain response was noted across all groups. The left foot demonstrated a statistically significant preexisting tachycardia which rose further during casting (p < 0.01). Intergroup comparisons revealed that the alteration for NIPS during casting was in following sequence (Group A > C > B, p < 0.00001). The effect of interventions offered in Group B and C lasted in the post-cast period as well (B > C). Conclusion: The clubfoot child exhibited moderate pain response during casting of both feet. A tachycardia was noted prior to initiation of second cast which further exaggerated with subsequent cast. Pacifier (non-nutritive sucking) intervention produced better control of pain response than human care contact during casting for both feet. [ABSTRACT FROM AUTHOR]

Background/Aim: Clubfoot is the most common congenital foot deformity. Although the etiology and pathoanatomy of clubfoot are not fully understood, dysplasia is present in all musculoskeletal structures below the knee at varying rates. The aim of any treatment regimen is to obtain a pain-free, properly positioned foot that has functional use. The objective of this investigation was to evaluate difficulties in the follow-up and treatment of patients with clubfoot treated in our clinic after the 2023 Kahramanmaras earthquake. Methods: Data from patients with clubfoot treated with the Ponseti method at the Orthopedics and Traumatology Outpatient Clinic of Gaziantep Metropolitan Municipality Inayet Topcuoglu Hospital in Turkey between December 2022 and July 2023 were obtained from the hospital's electronic registry system. Patient demographics, the number of plaster casts made before the earthquake, the total number of plaster casts made, time delays in treatment due to the earthquake, and costs were all analyzed. The Dimeglio score was used for the morphological classification of clubfoot. We analyzed patient data from three time periods: the time of the initial treatment, the period before the earthquake, and the period after the earthquake. Results: The study included 31 feet (16 left and 15 right) of 20 patients (11 males, 9 females). The mean age of the cohort was 3.5 months (standard deviation: 1.6 months). The median and minimum/maximum Dimeglio scores were 11 (9, 13), 6 (4, 8), and 9 (7, 11) at first admission, before the earthquake, and after the earthquake, respectively (P<0.001). The number of casts before the earthquake was 4.32 (0.32), and the total number of casts was 9.39 (1.38). The average time delay until retreatment after the earthquake was 12 weeks (range: 8-15 weeks). There was a significant positive correlation between the duration of the delay and the Dimeglio score measured after the earthquake (r=0.392, P=0.029). The additional cost per patient due to the delay was calculated to be 8290.8 ± 5033.761 TRY (308.78 ± 187.43 USD). Conclusion: The 2023 Kahramanmaras earthquake had a significant impact on the management of clubfoot and other elective procedures. Dealing with the consequences of an unprecedented natural disaster is certainly challenging. However, by adopting carefully designed protocols and therapeutic approaches that are based on the unique characteristics of an illness, we can successfully alleviate the repercussions of such events. [ABSTRACT FROM AUTHOR]

Developmental dysplasia of the hip (DDH) is a condition that includes a wide spectrum of anomalies ranging from simple instability with ligamentous hyperlaxity to the complete displacement of the femoral head outside the abnormally developed cotyloid cavity. Early detection and initiation of treatment allow "restitutio ad integrum" healing, which has raised the medical community's interest in early diagnosis. However, in countries with limited material resources, where echographic screening is not performed, efforts are being made to increase the sensitivity of clinical screening. Thus, the concept of "hip at risk" is taking shape worldwide. This is the normal clinical hip, but associated with one or more risk factors. We conducted a retrospective study for the period 2010–2015 with patients who presented in the ambulatory clinic of the St. John Children's Clinical Hospital, Galati. The study included 560 patients, who were all examined clinically and sonographically, according to the Graf method, by a senior orthopedic doctor with competence in hip sonography. The data obtained from the anamnesis, clinical examination, and ultrasound examination were recorded in the DDH file. The goal of the statistical analysis of the group of patients was to find a correlation between DDH and the risk factors used in the clinical detection of this pathology. In the studied group, four risk factors were identified that have an increased association with DDH: female sex, pelvic presentation, limitation of coxo-femoral abduction, and congenital clubfoot; thus, the conclusion of the study is that patients who have at least one of the listed risk factors should be examined sonographically as quickly as possible. The early ultrasound examination will allow the identification of the disease and the initiation of treatment. [ABSTRACT FROM AUTHOR]

Guidelines and protocols for orthoses in burn scar contracture rehabilitation are limited. The current study aims to determine the optimal frequency of casting, potentially facilitating the development of a serial casting protocol. Previous literature supporting casting has low generalizability due to methodology limitations. Seven patients with burn scar contracted joints, who did not respond to traditional therapy, were recruited in this study. Patients were serially casted once, three times, or five times a week. Joint range of motion was maximized with stretching and exercise techniques before every new cast application. Across all patients, active range of motion increased from 65.8 ± 27.8° to 108.1 ± 23.3° with casting; or from 57.8 ± 16.2% to 96.7 ± 2.9% of normal. Similarly, scars improved from 9.5 ± 1.5 to 4.9 ± 1.4 on the Modified Vancouver Scar Scale score. This therapeutic effect was achieved within an average of 8.5 ± 3.7 d and 4.0 ± 2.2 new cast applications. Given the study findings, the procedures outlined could be used to develop a standardized serial casting protocol for burn scar contracture rehabilitation. [ABSTRACT FROM AUTHOR]

Background. Patients with clubfoot can have pain and functional disorders that lead to disability. Familiarity of obstetrician-gynecologists, general practitioners, surgeons with its early diagnosis and timely management may prevent disablement.Objective. The aim of the study is to analyze the opinion from parents of children with clubfoot on medical care via Ponseti method in outpatient center of surgery, traumatology and orthopedics.Methods. Cross-sectional study in the form of sociological survey (questionnaire) was carried out in N.F. Filatov Children’s City Hospital from March to December 2021 among parents of children with the following diagnoses: congenital bilateral clubfoot, congenital right clubfoot, congenital left clubfoot.Results. Respondents rated the quality of provided medical care and its availability, the hospital stay conditions by 10.0 points on the scale from 0 to 10. Territorial accessibility of medical care was estimated by 9.0 (7.0; 10.0) points, 30 out of 99 respondents (30.3%) required improvement in territorial accessibility (7 points out of 10 and below). Only 36.4% (36 out of 99) of children were sent to N.F. Filatov Children’s City Hospital for treatment by doctor of out-patient clinic. Others learned about this variant from the Internet, from acquaintances, etc. 10 out of 15 (15.2%) children with disabilities included in the study had difficulties in learning socially necessary skills. None of 10 children who have been diagnosed antenatally had any difficulties in learning socially necessary skills or disabilities. Mean age of disability was 10.6 ± 7.3 months. Children with disease diagnosed since birth had difficulties in learning socially necessary skills in 7.1% (2 out of 28) cases, and in 13.3% (8 out of 60) cases if diagnosed after birth (p = 0.356). Disability did not affect conditions in which children received treatment (14.6% and 20.0% of children under outpatient and inpatient treatment, respectively, had disabilities; p = 0.646). 26.7% of children with disabilities and only 11.9% of children without disabilities received treatment in hospital before the treatment (p = 0.218). 5.9% of children treated on outpatient basis had difficulties with learning socially necessary skills. Children treated on inpatient basis had difficulties with learning socially necessary skills in 35.7% cases (p = 0.005). The choice of outpatient or inpatient treatment did not depend on the presence of spina bifida (p = 0.276), children age (2.1 (0.7; 3.6) months vs 3.65 (0.6; 4.975) months, respectively; p = 0.309).Conclusion. Treatment can be delayed statistically significantly in case of late diagnosis, which is associated with the observed low awareness of doctors (working by the district principle) about specialized medical care. Ratio of children with disabilities and difficulties in learning socially necessary skills or disabilities is lower among patients with antenatal diagnosis. However, further studies are required for evaluation of these factors’ association.

Purpose: Clubfoot is among the most common musculoskeletal congenital anomalies. Poor understanding of clubfoot can cause lack of awareness that leads to complications in treating this condition because of late medical intervention. This is considered as a significant public health problem, especially in communities where the burden of clubfoot deformity remains unrecognized. We assessed the level of awareness and knowledge on clubfoot among residents of rural areas and determined the knowledge and attitudes of the public toward the risk factors and general consequences of clubfoot. Methods: This cross-sectional study, conducted from January to July 2021, included the general population of small city and rural area residents. The participants completed a self-administered survey on the web. The questionnaire was pre-tested in a pilot study to ensure comprehension and ease of administration. Results: Altogether, 41.6% of the participants recognized the scientific name of clubfoot in their native language, whereas 38.9% identified the disorder after they were shown a photograph of it. The most recognized risk factors of clubfoot according to the participants were family history (52.2%), complicated pregnancy (46.5%), and medications (43.4%). Only 8.8% of the participants considered casting the initial treatment of clubfoot. Conclusion: An individual’s residential area plays a role in their level of awareness concerning clubfoot. Our results suggest that many educational interventions for clubfoot must be provided in rural areas, particularly regarding therapeutic options and plans of care.

The correct estimation of gait events is essential for the interpretation and calculation of 3D gait analysis (3DGA) data. Depending on the severity of the underlying pathology and the availability of force plates, gait events can be set either manually by trained clinicians or detected by automated event detection algorithms. The downside of manually estimated events is the tedious and time-intensive work which leads to subjective assessments. For automated event detection algorithms, the drawback is, that there is no standardized method available. Algorithms show varying robustness and accuracy on different pathologies and are often dependent on setup or pathology-specific thresholds. In this paper, we aim at closing this gap by introducing a novel deep learning-based gait event detection algorithm called IntellEvent, which shows to be accurate and robust across multiple pathologies. For this study, we utilized a retrospective clinical 3DGA dataset of 1211 patients with four different pathologies (malrotation deformities of the lower limbs, club foot, infantile cerebral palsy (ICP), and ICP with only drop foot characteristics) and 61 healthy controls. We propose a recurrent neural network architecture based on long-short term memory (LSTM) and trained it with 3D position and velocity information to predict initial contact (IC) and foot off (FO) events. We compared IntellEvent to a state-of-the-art heuristic approach and a machine learning method called DeepEvent. IntellEvent outperforms both methods and detects IC events on average within 5.4 ms and FO events within 11.3 ms with a detection rate of ≥ 99% and ≥ 95%, respectively. Our investigation on generalizability across laboratories suggests that models trained on data from a different laboratory need to be applied with care due to setup variations or differences in capturing frequencies. [ABSTRACT FROM AUTHOR]

Measurement of angles on foot radiographs is an important step in the evaluation of malalignment. The objective is to develop a CNN model to measure angles on radiographs, using radiologists' measurements as the reference standard. This IRB-approved retrospective study included 450 radiographs from 216 patients (< 3 years of age). Angles were automatically measured by means of image segmentation followed by angle calculation, according to Simon's approach for measuring pediatric foot angles. A multiclass U-Net model with a ResNet-34 backbone was used for segmentation. Two pediatric radiologists independently measured anteroposterior and lateral talocalcaneal and talo-1st metatarsal angles using the test dataset and recorded the time used for each study. Intraclass correlation coefficients (ICC) were used to compare angle and paired Wilcoxon signed-rank test to compare time between radiologists and the CNN model. There was high spatial overlap between manual and CNN-based automatic segmentations with dice coefficients ranging between 0.81 (lateral 1st metatarsal) and 0.94 (lateral calcaneus). Agreement was higher for angles on the lateral view when compared to the AP view, between radiologists (ICC: 0.93–0.95, 0.85–0.92, respectively) and between radiologists' mean and CNN calculated (ICC: 0.71–0.73, 0.41–0.52, respectively). Automated angle calculation was significantly faster when compared to radiologists' manual measurements (3 ± 2 vs 114 ± 24 s, respectively; P < 0.001). A CNN model can selectively segment immature ossification centers and automatically calculate angles with a high spatial overlap and moderate to substantial agreement when compared to manual methods, and 39 times faster. [ABSTRACT FROM AUTHOR]

Background: Clubfoot is a congenital deformity that can affect one or both of a newborn's lower extremities. The main objective of the study is to evaluate and compare the outcomes of the Ponseti method for the management of different types of clubfoot. Methods: A retrospective analysis of 151 children with 253 clubfeet (idiopathic untreated, idiopathic recurrent, and syndromic) with at least one year of follow-up was conducted in four months after ethical approval. Data were collected with a structured proforma after the consent of the parents. An independent sample t-test was applied to show the comparison between the groups, and a p-value of 0.05 was considered significant. Results: Out of 151 patients, 76% were male and 24% were female. Out of a total of 235 feet, 96 (63%) were idiopathic untreated, 40 (26.5%) were idiopathic recurrent, and 15 (9.5%) were syndromic clubfoot. The average number of casts was higher in syndromic clubfoot (9 casts per foot). There was no significant difference in the baseline Pirani score of the three groups (p-value > 0.05); but after one year of follow-up, there was a significant difference in the Pirani score of idiopathic and syndromic clubfoot (p-value ≤ 0.05) and between recurrent clubfoot and syndromic clubfoot (p-value = 0.01). Conclusions: The aetiology of syndromic clubfoot affects the outcomes of the Ponseti method and leads to relapse. In idiopathic (untreated and recurrent) clubfoot, the Ponseti method does not produce a significant difference in outcome. Poor brace compliance and a lack of tenotomy lead to orthotic (ankle foot orthosis AFO and foot orthosis FO) use in the day time and the recurrence of clubfoot deformity in these three types of clubfoot. [ABSTRACT FROM AUTHOR]

A fetal clenched hand with overlapping fingers is more common in aneuploidy syndrome and was not well-documented in MED12 deficiency. This study reports the clinical and genetic findings of three affected siblings from a Chinese family. The chromosome karyotype analysis diagram shows that karyotypes of the three children were normal. Trio whole-exome sequencing and Sanger sequencing verification found that there was a MED12 R296Q variant in normal mothers and their two offspring. A pattern of clenched hand with overlapping fingers (clinodactyly) and clubfoot was found in all the three affected siblings by three-dimensional ultrasound. The discovery of this case shows that even if the chromosome karyotype is normal, comprehensive prenatal genetic diagnosis is required when the ultrasound results show a clenched hand with clinodactyly and clubfoot symptoms. [ABSTRACT FROM AUTHOR]

Clubfoot is one of the common orthopaedic deformities. However, regardless of its' treatment high success rate, recurrence of the deformity is a serious issue. The aim of this study is to evaluate if radiographic angles can be used for clubfoot recurrence prediction. This is a prospective study on 91 patients (134 feet) with mean age of 9.5 ± 2.3 days and male/female ratio of 2/1 on patients with congenital clubfoot admitted to our hospital. Pre and one-year post-tenotomy tibiocalcaneal (TIC-L), talocalcaneal (TC-L) and calcaneal-first metatarsal angles (C1M-L) in the lateral view of the patients' radiographs, and their recurrence status until three years were measured. Ten feet experienced relapse. The mean pre and one-year follow-up measurements of TC-L, C1M-L, and TIC-L angles were significantly different between patients who experienced relapse and others (P <.05). The cut-off points of 1.75 and 6.5 for one-year follow-up Pirani and Dimeglio scores for recurrence prediction were suggested respectively. Also, cut-off points of 26.5 and 79.5 for one-year follow-up TC-L and TIC-L angles for recurrence prediction were calculated, respectively. We demonstrated that the pre-tenotomy and one-year follow-up TIC-L, TC-L, and C1M-L angles are helpful in clubfoot recurrence prediction after Ponseti treatment. [ABSTRACT FROM AUTHOR]

We report a 24-year-old male with blepharophimosis, psychomotor retardation, brachycephaly, microstomia, immobile face, high arched palate, single palmar crease, kyphoscoliosis, talipes equinovarus, inguinal hernia, pyloric stenosis, recurrent infections, bilateral camptodactyly, wide-set eyes, decreased muscle mass, hypotonia, exotropia, and ptosis in the left eye, growth retardation, multiple congenital contractures, and hyporreflexia. Contractures improved with aging, but intellectual disability and blepharophimosis remained. He also presented epilepsy, outbursts of laughter, and predisposition to drug adverse effects (skin lesions with carbamazepine and secondary parkinsonism). [ABSTRACT FROM AUTHOR]

Background: Clubfoot is a common congenital deformity affecting mobility of children. It leads to pain and disability. The Ponseti treatment method is non-surgical method for the correction of clubfoot. There is variation from country to country in how the result of clubfoot management is measured and reported. This study aimed to assess the 5-years results of the Ponseti method in the treatment of congenital clubfoot which was performed for children aged under 2 years in western Amhara, Ethiopia. Objectives: The objective of this study was to assess a 5-years results of the Ponseti method in the treatment of congenital clubfoot among under 2-years old children in Felege Hiwot Referral Hospital, Bahir-Dar, Ethiopia, from 2015 to 2019 G.C. Methods: A facility-based retrospective cross-sectional study was conducted. After receiving letter of ethical clearance from the University, IRB board, the data were collected from medical record/charts of patients' who received Ponseti treatment, and the collected data were entered and analyzed with Statistical Package for Social Sciences version 21. The results were presented with texts and tables. Results: A total of 200 children with 256 congenital clubfeet involved in the study. Among the total study subjects, 143 (71.5%) had unilateral clubfeet. The 5-years results of the Ponseti method in the treatment of congenital clubfoot conducted in 200 children with clubfeet were 187 (93.5%) with 95% (CI 90–99.5). Among the study participants, males were 66.5% (almost two times from females). Conclusions and recommendations: According to the results from a 5-years data showed that the Ponseti method in the treatment of congenital clubfoot was successful with a success rate of 93.5%. We recommend that children with congenital clubfeet should be managed with Ponseti treatment method timely. [ABSTRACT FROM AUTHOR]

Background: The clinical entity of complex clubfoot poses a significant challenge to correction by slippage of casts which further complicates the deformity and prolongs the treatment. A static and dynamic component associated with this deformity causing cast slippage was recognized. The purpose of this study was to evaluate the clinical outcomes at the end of the casting period while addressing these issues. Methods: A retrospective study of 17 patients with 25 complex clubfeet over a period of 2 years was conducted. Tug test was used to ascertain the snugness of the cast. To address the dynamic component, distal extent of the cast was limited to metatarsal heads. Results: The mean age of patients at diagnosis was 4.41 months (2–7 months). The mean pre-casting Pirani score was 4.8 (4–6) and post casting Pirani score was 0.4 (0–1). A total of 128 casts were applied to correct 25 complex clubfeet. The average number of casts required to achieve correction by the modified Ponseti technique was 5.12 (4–7). Overall, four incidences of cast slippage occurred. Conclusion: The modified Ponseti technique is effective in the correction of complex clubfoot. Tug test can detect casts which are prone to slippage. Limiting the distal extent of the cast to the metatarsal heads can reduce cast slippage by reducing the repeated downward pressure by the toes on the cast. Level of evidence Level 4. [ABSTRACT FROM AUTHOR]

Ankle and foot deformity is one of the most common musculoskeletal disorders in children and a leading cause of functional impairment and diminished quality of life when not treated. A spectrum of conditions may produce foot and ankle deformities, with congenital disorders the most frequent cause, followed by acquired conditions. Congenital disorders include congenital talipes equinovarus or congenital clubfoot, metatarsus adductus, skewfoot, congenital vertical talus, and tarsal coalition. Some of these deformities are frequent and easily diagnosed based on clinical features, but clinical overlap between pathologies can be challenging. Thus imaging plays a paramount role in evaluating these patients. Radiographs are the first imaging modality of choice, but they may not be sufficient in infants due to the lack of ossification of the tarsal bones. Ultrasonography allows not only a detailed visualization of the cartilaginous structures but also permits a dynamic study of the foot and ankle. Computed tomography may be necessary in certain conditions such as tarsal coalitions. [ABSTRACT FROM AUTHOR]

A 3-year-old girl with facial and oral features suggestive of orofacial digital syndrome Type II (Mohr syndrome) is reported. Panoramic radiograph indicated oligodontia with only two permanent first molar tooth buds present. She also presented meso-axial polydactyly of the left hand, a feature commonly observed in orofacial digital syndromes (OFDS) VI (Varadi Papp syndrome) and talipes equinus. Talipes equines or club foot deformity is characteristic of OFDS IV. Therefore, this patient showed overlapping features of OFDS II, IV, and VI. [ABSTRACT FROM AUTHOR]

Mycetoma is a chronic localized progressive granulomatous infection of the skin involving subcutaneous and deeper tissues, commonly affecting the lower extremities. We report a case of a 26-year-old male construction worker presented with chief complaints of painful red to skin-colored raised lesions present over his left foot, lesions were multiple discrete erythematous to skin-colored plaques with well-demarcated erythematous erosions and crusting present over the left foot and left thigh region. The patient had been hospitalized several times due to worsening symptoms because of his nonadherence to medications and negligence toward health and medical advice of hospital inpatient admissions. Actinomadurae was isolated and a modified 2-step Ramam treatment regimen was initiated. This case is presented to signify how medication non-adherence and poor health facilities can lead to an increase in treatment course and duration. Early detection and identification of the causative organism and individualized treatment plans are necessary for a better clinical outcome. [ABSTRACT FROM AUTHOR]

Complex clubfoot is a term used to describe a subset of patients that received previous treatment, and have distinctive anatomical features: severe equinus, with short first metatarsal, hyperextended big toe, severe plantar flexion of all metatarsals and deep folds through the sole of the foot and above the heel. Most complex clubfeet appear to be idiopathic and is usually associated with a poor casting technique. Complex clubfoot requires an early recognition and an adjustment of the casting protocol using the four finger Ponseti technique. This article gives the treating physician a general overview of the evaluation, treatment, and outcomes of complex clubfoot with the Ponseti method. [ABSTRACT FROM AUTHOR]

Purpose: To investigate the effects of two ultrasonic vibration protocols for cast post removal (single or double ultrasound units) on the development of defects in root dentin. Methods: Sixty bovine incisors were selected. Fifteen roots were left unprepared (control). Forty-five roots were instrumented and filled. A 10-mm post space was prepared using #1-4 Largo drills. Fifteen teeth were prepared for post space and received no further procedure. Thirty roots had cast posts cemented and were submitted to ultrasonic vibration protocols for removal. The time necessary to remove each post was recorded. Roots were sectioned 3, 6, 9, and 12 mm from the coronal portion and viewed through a 25× magnification in a stereomicroscope. The presence of root fractures, partial cracks, and craze lines was registered. Chi-square and Fisher's exact tests were performed to compare the incidence of dentin defects. The Kruskal-Wallis test was performed to explore the difference between the time needed for post removal. The significance level was set at P = 0.05. Results: Root defects were observed in all experimental groups. There were no statistical differences comparing previous root canal treatment and post removal steps, either with 1 or 2 ultrasonic units, in the formation of defects (P = 0.544) or fractures (P = 0.679). Conclusion: Ultrasonic vibration protocols for removing cast posts did not increase the number of dentin defects compared to root canal preparation and obturation and post space preparation steps. [ABSTRACT FROM AUTHOR]

Background and Objectives: Heterozygous pathogenic variants in the MED13L gene cause impaired intellectual development and distinctive facial features with or without cardiac defects (MIM #616789). This complex neurodevelopmental disorder is characterised by various phenotypic features, including plagiocephaly, strabismus, clubfoot, poor speech, and developmental delay. The aim of this study was to evaluate the clinical significance and consequences of a novel heterozygous intragenic MED13L deletion in a proband with clinical features of a MED13L-related disorder through extensive clinical, molecular, and functional characterisation. Materials and Methods: Combined comparative genomic hybridisation and single-nucleotide polymorphism array (SNP-CGH) was used to identify the changes in the proband's gDNA sequence (DECIPHER #430183). Intragenic MED13L deletion was specified via quantitative polymerase chain reaction (qPCR) and Sanger sequencing of the proband's cDNA sample. Western blot and bioinformatics analyses were used to investigate the consequences of this copy number variant (CNV) at the protein level. CRISPR-Cas9 technology was used for a MED13L-gene-silencing experiment in a culture of the control individual's skin fibroblasts. After the MED13L-gene-editing experiment, subsequent functional fibroblast culture analyses were performed. Results: The analysis of the proband's cDNA sample allowed for specifying the regions of the breakpoints and identifying the heterozygous deletion that spanned exons 3 to 10 of MED13L, which has not been reported previously. In silico, the deletion was predicted to result in a truncated protein NP_056150.1:p.(Val104Glyfs*5), partly altering the Med13_N domain and losing the MedPIWI and Med13_C domains. After MED13L gene editing was performed, reduced cell viability; an accelerated aging process; and inhibition of the RB1, E2F1, and CCNC gene expression were found to exist. Conclusions: Based on these findings, heterozygous intragenic 12q24.21 deletion in the affected individual resulted in MED13L haploinsufficiency due to the premature termination of protein translation, therefore leading to MED13L haploinsufficiency syndrome. [ABSTRACT FROM AUTHOR]

Background: Charcot-Marie-Tooth disease 2C (CMT2C) and scapuloperoneal spinal muscular atrophy (SPSMA) are different clinical phenotypes of TRPV4 mutation. The mutation of p.R316C has been reported to cause CMT2C and SPSMA separately. Case presentation: Here, we reported a Chinese family harboring the same p.R316C variant, but with an overlap syndrome and different clinical manifestations. A 58-year-old man presented with severe scapula muscle atrophy, resulting in sloping shoulders. He also exhibited distinct muscle atrophy in his four limbs, particularly in the lower limbs. The sural nerve biopsy revealed severe loss of myelinated nerve fibers with scattered regenerating clusters and pseudo-onion bulbs. Nerve conduction study showed axon damage in both motor and sensory nerves. Sensory nerve action potentials could not be evoked in bilateral sural or superficial peroneal nerves. He was diagnosed with Charcot-Marie-Tooth disease type 2C and scapuloperoneal muscular atrophy overlap syndrome, whereas his 27-year-old son was born with clubfoot and clinodactyly. Electromyogram examination indicated chronic neurogenic changes and anterior horn cells involvement. Although there was no obvious weakness or sensory symptoms, early SPSMA could be considered for him. Conclusions: A literature review of the clinical characteristics in CMT2C and SPSMA patients with TRPV4 mutation suggested that our case was distinct due to the overlap syndrome and phenotype variation. Altogether, this case broadened the phenotype spectrum and provided the nerve biopsy pathological details of TRPV4-related neuropathies. [ABSTRACT FROM AUTHOR]