Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 605
Filtrar
1.
Front Pediatr ; 12: 1327742, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38562133

RESUMO

Neuronopathy, distal hereditary motor, type VIII is an exceedingly rare autosomal dominant genetic disorder, also known as congenital non-progressive distal spinal muscular atrophy. It is characterized by progressive weakness in distal motor function and atrophy of muscles, without accompanying sensory impairment. Presently, there is limited literature on this condition, and accurate epidemiological data regarding its incidence remains unavailable. We report a paediatric case of distal hereditary motor, type VIII that is caused by a heterozygous missense mutation in the TRPV4 gene (NM_021625): c.805C>T. The proband is a 7-year-old male child. During pregnancy, his mother had prenatal ultrasound revealing "inward turning of the feet", a condition persisting after birth. The proband is currently unable to stand independently, exhibiting bilateral clubfoot deformity. Although possessing normal cognitive function, he cannot walk unaided. Computed radiography findings reveal pelvic tilt, bilateral knee joint valgus, and bilateral clubfoot. The patient underwent familial exome sequencing, revealing a mutation in the TRPV4 gene (NM_021625): c.805C>T (p.Arg269Cys). Considering the patient's medical history, clinical manifestations, imaging studies, and genetic test results, the diagnosis for this individual is Neuronopathy, distal hereditary motor, type VIII. This report documents a case involving the TRPV4 gene mutation associated with Neuronopathy, distal hereditary motor, type VIII, contributing valuable case reference for the early diagnosis of this condition.

2.
Int Orthop ; 2024 Apr 11.
Artigo em Inglês | MEDLINE | ID: mdl-38602555

RESUMO

PURPOSE: Despite the existence of guidelines for screening for developmental dysplasia of the hip (DDH), there remains controversy regarding the need for routine ultrasound screening for DDH in patients with clubfoot due to an unclear correlation between the two conditions. The purpose of this study is to determine whether ultrasound screening for DDH in this population improved the diagnostic accuracy of DDH over standard assessment for patient risk factors and physical exam. METHODS: This is a retrospective cross-sectional review of infants diagnosed with idiopathic clubfoot who underwent hip ultrasounds to assess for DDH as identified by keyword search in an institutional radiological database at a tertiary care paediatric hospital. Patient demographics, risk factors for DDH, physical exam findings, and ultrasound results were recorded. RESULTS: Of the 120 patients who met the inclusion criteria between 2003 and 2018, 8 had hip dysplasia confirmed on ultrasound (6.7%). All these patients either had known risk factors for hip dysplasia or had an abnormal physical exam finding suggestive of hip instability or dislocation as performed by an orthopaedic surgeon on their initial consultation. CONCLUSION: A detailed history to determine risk factors and a thorough physical exam are adequate to determine the need for hip ultrasound in infants with idiopathic clubfoot. Routine ultrasound screening of all patients with clubfoot is likely unnecessary and may pose a significant burden on the health care system.

3.
Acta Ortop Mex ; 38(1): 44-47, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38657150

RESUMO

Amniotic band syndrome (ABS) and clubfoot are distinct congenital musculoskeletal conditions that can occasionally co-occur, creating unique challenges in their management. This paper summarizes the comprehensive discussion on the management of amniotic band syndrome (ABS) and clubfoot, emphasizing the critical role of the Ponseti method and the challenges faced in treatment, thereby providing a basis for further research and improved patient care.


El síndrome de banda amniótica (ABS) y el pie zambo son afecciones musculoesqueléticas congénitas distintas que ocasionalmente pueden coexistir, creando desafíos únicos en su manejo. Este artículo resume la discusión exhaustiva sobre el tratamiento del síndrome de bandas amnióticas (ABS) y el pie zambo, enfatizando el papel fundamental del método Ponseti y los desafíos que enfrenta el tratamiento, proporcionando así una base para futuras investigaciones y una mejor atención al paciente.


Assuntos
Síndrome de Bandas Amnióticas , Pé Torto Equinovaro , Pé Torto Equinovaro/terapia , Pé Torto Equinovaro/cirurgia , Humanos , Recém-Nascido , Lactente , Moldes Cirúrgicos
4.
Acta Ortop Bras ; 32(1): e273739, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38532860

RESUMO

Objective: Evaluate whether the experience of the surgeon could reduce Ponseti treatment time, and a number of cast changes, and the evolution of the Pirani Score. Methods: 2 reference centers were evaluated. At Institution 1, 254 patients with idiopathic clubfoot (403 feet) were included, and at Institution 2, 32 patients (51 feet). At institution 1 (mentor), 3 intervals of 5 years each were analyzed. At the Institution 2 (trainee), 1 interval of 5 years was analyzed. Results: Patients treated by the mentor had fewer casts compared with the trainee (p < 0.001). At Institution 1, the three mentor intervals showed differences in the number of casts (p < 0.05). A statistically significant difference was observed only in the first mentor interval (2000 to 2005, average of 3.47 casts) compared with the 2 other intervals (2005 to 2010; average of 2.6 casts and 2011 to 2015; average of 2.79 casts; p < 0.0001). Pirani score decreases the most until the third clinic visit. Conclusion: The mentor's greater expertise was associated with fewer casts and shorter time to obtain correction in isolated clubfoot, especially right after the first 5 years of practice. Progression of the Pirani score in both institutions occurs between the first and the third casts. Level of Evidence III; Therapeutic Study, Retrospective Comparative Study.


Objetivo: Avaliar se a experiência no Método Ponseti pode reduzir o tempo de tratamento e o número de gessos. Métodos: Na instituição 1 foram incluídos 254 pacientes com pé torto idiopático (403 pés) e na instituição 2, 32 pacientes (51 pés). Na instituição 1 (mentora) foram analisados 3 intervalos de 5 anos. Na instituição 2 (estagiária), foi analisado 1 intervalo de 5 anos. Resultados: Os pacientes tratados pelo mentor tiveram menos gessos em comparação aos tratados pelo estagiário (p < 0,001). Na Instituição 1, os três intervalos de mentores apresentaram diferenças no número de gessos até a correção dos pés (p < 0,05). Diferença estatisticamente significativa foi observada no primeiro intervalo do mentor (2000 a 2005, média 3,47 gessos) em comparação com os outros 2 intervalos (2005 a 2010; média 2,6 gessos e 2011 a 2015; média 2,79 gessos; p < 0,0001). O escore de Pirani diminui mais até a terceira consulta clínica. Conclusão: A maior expertise do mentor no Método Ponseti esteve associada ao menor número de gessos e ao menor tempo para correção do pé torto, principalmente logo após os primeiros 5 anos. A maior progressão do score de Pirani ocorre entre o primeiro e o terceiro gesso. Nível de Evidência III; Estudo Terapêutico, Estudo Comparativo Retrospectivo.

5.
Cureus ; 16(2): e54398, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38505444

RESUMO

PURPOSE: Arthrogryposis multiplex congenita (AMC) consists of more than 400 conditions involving severe joint contractures of at least two or more body regions. Management of clubfoot in patients with AMC is notoriously challenging, with a higher likelihood of recurrence than idiopathic clubfoot, which can be treated using the Ponseti technique to avoid or delay more invasive procedures. The purpose of this study is to determine the utility of multiple serial casting as a treatment of clubfoot in AMC using Pirani scores as an objective measure of deformity. METHODS: Pirani scores were retrospectively collected from 17 AMC patients with a total of 30 clubfeet and two years follow-up from initiation of treatment. Patients with a minimum of three casting series were included. Pre-treatment and post-treatment deformity scores were examined across casting series using analysis of variance (ANOVA) statistical analysis. RESULTS: The first series pre-treatment Pirani score improved from 4.80±1.54 to 1.68±1.48 (p<0.001). The second series improved from 4.23±1.03 to 2.72±0.916 (p<0.001). The third series had the smallest improvement from 3.87±1.07 to 2.82±1.02 (p<0.001). Change in Pirani scores showed a significant decrease from the first series to the second (p=0.001) and third (p<0.001). In addition, the number of casting days was found to significantly affect the change in scores during the third series (p=0.038). CONCLUSIONS: The Ponseti technique can improve clubfoot in AMC as measured by the Pirani score. Data shows that early intervention yields better results, with a diminished yet effective ability to elicit change over time.

6.
J Child Orthop ; 18(1): 72-78, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38348434

RESUMO

Purpose: The aim of this systematic review was to address the Ponseti method in arthrogrypotic clubfoot treatment and evaluate the success, complication, and recurrence rates. Method: A systematic review was performed in the PubMed, Scopus, Embase, and Web of Science databases on 9 January 2023, according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. Success, recurrence, and complication rates were evaluated and analyzed. Risks of bias and the quality of the studies were also evaluated. Results: Five case series, including 53 patients (102 feet), were identified. According to this model, the initial success rate was 91% (95% confidence interval = 0.79-0.96) with I2 = 43%, and the final success was 68% (at 5.8 years of follow-up). Recurrence rate was 30% (95% confidence interval = 0.14-0.52). Conclusion: Ponseti method is indicated in the initial treatment of arthrogrypotic clubfeet, as it is a minimally invasive method with a high correction rate (91%). However, a high recurrence rate (30%) requires early detection and adequate treatment. Level of evidence: Level III. PROSPERO Protocol: CRD42020210373.

7.
Int Orthop ; 2024 Feb 10.
Artigo em Inglês | MEDLINE | ID: mdl-38340143

RESUMO

PURPOSE: The aims of the study were to document the outcomes of percutaneous Achilles tenotomy (pAT) performed in older children with clubfoot, by assessing the clinical, functional and ultrasonographic evidence of Achilles tendon regeneration. METHODS: A retrospective case series of older children with clubfoot treated between August 2011 and July 2020 was studied. Clinical assessment of ankle range of motion and calf strength, functional assessment of triceps surae muscle endurance by single leg heel-rise test, and ultrasonographic assessment of Achilles tendon echotexture and dimensions to assess tendon regeneration were performed. RESULTS: Percutaneous Achilles tenotomy was performed on 31 children (48 clubfeet) at a mean age of 5.24 ± 2.14 years (1-10.2 years). At a mean follow-up of 4.86 ± 1.97 years, all children demonstrated normal calf strength with mean dorsiflexion range of 13.64° (0-25°) and mean plantarflexion range of 37.95° (10-40°). The heel-rise endurance test was completed by 27 children with mean 25.85 heel rises/minute (range 17-30) and mean height of heel rise of 6.29 cm (range 4-10 cm). Normal fibrillar tendinous echotexture with homogenous echogenicity was seen on ultrasonography in 41 feet (85.4%) with mean tendon width of 9.7 mm (3.3-16 mm) and thickness of 5.1 mm (1.8-15 mm), comparable with unaffected feet. CONCLUSIONS: Clinical, functional and ultrasonographic parameters unequivocally demonstrate complete regeneration of the Achilles tendon, when pAT is performed in older children with delayed-presenting idiopathic clubfoot treated using Ponseti principles.

8.
J Clin Med ; 13(3)2024 Jan 26.
Artigo em Inglês | MEDLINE | ID: mdl-38337408

RESUMO

BACKGROUND: We tried to determine whether the indication of Achilles tenotomy (AT) in clubfoot patients based on clinical evaluation could be confirmed radiographically, and to find an objective radiographic cut-off value for its indication. METHODS: Eighty-six clubfeet from 60 patients, (26 bilateral and 34 unilateral) were included. A standard Ponseti treatment regimen was applied. Group 1 comprised patients who underwent AT immediately after serial plaster casting (26 feet). Group 2 comprised patients who underwent AT during the follow-up period (48 feet). Group 3 comprised patients who were assumed to have a corrected foot and did not undergo AT (12 feet). Group 4 comprised the healthy sides of the unilateral cases (34 feet). RESULTS: Both Group 1 and Group 2 showed significant improvement after tenotomy (p = 0.002). In order to differentiate between the normal and AT groups according to the pre-tenotomy angle, we obtained an optimal cut-off value of >85° according to the Youden index, a sensitivity of 96%, a specificity of 91.2%, a positive predictive value of 95.9%, a negative predictive value of 91.2%, and an accuracy rate of 94.4% (AUC: 0.983; p < 0.001). CONCLUSIONS: Feet with a lateral tibio-calcaneal angle > 85° can be considered pathologic and accepted as candidates for AT.

9.
Cureus ; 16(1): e52482, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-38371124

RESUMO

Clubfoot is a congenital abnormality of the lower extremities, and it may be unilateral or bilateral. Left untreated, it may lead to issues with walking. Additionally, inappropriate treatment or the lack of treatment can result in functional damage. The goal of clubfoot treatment is to correct the deformities of the involved components. The Ponseti method has been regarded as the gold standard for the treatment of clubfoot as it is safe and effective. In this review, we aimed to assess the success of the Ponseti method in the treatment of clubfoot by reviewing the previous studies on this subject. We searched electronic databases, including PubMed, Scopus, Science Direct, and Google Scholar, for relevant articles spanning the period from 2018 to 2023. The keywords used in the search were "Ponseti method, Treatment, Outcomes, Success, Relapse, Failure, and Rates." The inclusion criteria were original articles in English on clubfoot patients treated with the Ponseti method. While our search yielded a total of 1,037 articles, only nine were deemed eligible for analysis based on the inclusion criteria. The articles involved a total of 537 feet of 358 patients and the age of the patients ranged from one day to five years. The success rate ranged between 55% and 100%, and the relapse rate ranged between 3.2% and 34.2%. Based on our findings, the Ponseti method has a high success rate in the treatment of idiopathic clubfoot, and hence it is an excellent conservative method of treatment. However, there are additional factors that may affect the treatment outcomes, which need to be taken into account.

10.
Heliyon ; 10(4): e25753, 2024 Feb 29.
Artigo em Inglês | MEDLINE | ID: mdl-38390151

RESUMO

Background: Neglected congenital clubfoot (NCCF) is a birth deformity that remains untreated until the child begins to walk. Irrespective of the treatment protocols employed, children with NCCF face an elevated risk of recurrence following the initial correction. Predicting this recurrence could enable early intervention for high-risk children, ultimately diminishing the likelihood of invasive surgery. Methods: From January 2006 to January 2022, a total of 33 unilateral NCCF patients were enrolled in this study at Xijing Hospital. Pedobarographic tests were performed at three distinct time points: after the initial Ponseti treatment, before recurrence treatment, and after recurrence treatment. Four derivative parameters were developed for predicting recurrence, namely the difference of the contact time% (DCT%), difference of the contact area% (DCA%), difference of the peak pressure (DPP), and difference of the pressure-time integral (DPTI) between the two feet. ROC curves, Kaplan-Meier survival analysis, and Cox regression were employed to identify potential prognostic factors. Results: Out of the 33 unilateral NCCF patients, recurrence occurred in 8 individuals, with an average follow-up period of 109.8 months. The predictive parameter for recurrence is the midfoot (MF) zone's DCT% (MF-DCT%). When the contact time (CT)% of the affected side was 20.69% higher than that of the unaffected side, the hazard ratio (HR) of recurrence increased by 7.404 times. Another predictive plantar pressure parameter is the DPP in the MF zone (MF-DPP). If the PP of the affected side was 159% higher than that of the unaffected side, the HR of recurrence increased by 9.229 times. The MF-DCT% and MF-DPP of recurrence patients were assessed at three time points for comparisons, further validating their predictive ability for recurrence. Conclusion: Although satisfactory clinical outcomes were achieved in patients with unilateral NCCF after the initial Ponseti treatment, the plantar pressure distribution does not return to normal levels, which may indicate future recurrence. DCT% and DPP in the MF zone can be used as plantar pressure predictors of recurrence in patients with NCCF.

11.
Foot Ankle Surg ; 30(3): 263-267, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38216337

RESUMO

INTRODUCTION: Adults presenting with symptomatic clubfoot represent a challenging cohort of patients. An appreciation of the location and degree of deformities is essential for management. Talar anatomy is often abnormal with varus within the talar neck, however, there are few reproducible methods which quantify talar neck deformity in adults. We describe a technique of assessing talar neck deformity, and report on observed values and intra- / inter-observer reliability. METHODS: This was a single-centre, retrospective study including 96 feet from 56 adult patients with clubfeet (82 feet had clubfoot deformity, 14 were normal). Mean age was 34.3 ± 16.9 years and 31 (55.3%) were male. Weight-bearing CT scans captured as part of routine clinical care were analysed. Image reformats were oriented parallel to the long axis of the talus in the sagittal plane. In the corresponding axial plane two lines were drawn (on separate slices): 1) a line perpendicular to the intermalleolar axis, 2) a line connecting the midpoints of the talar head and narrowest part of the talar neck. The talar neck rotation angle (TNR angle) was the angle formed between these lines. Intraclass correlation coefficients (ICC) were performed for intra- and inter-observer reliability. RESULTS: Mean TNR angle in clubfeet was 27.6 ± 12.2 degrees (95%CI = 25.0 to 30.2 degrees). Mean TNR angle in normal feet was 18.7 ± 5.1 degrees (95%CI = 16.0 to 21.4 degrees) (p < 0.001). The ICC for clubfeet was 0.944 (95%CI = 0.913 to 0.964) for intra-observer agreement, and 0.896 (95%CI = 0.837 to 0.932) for inter-observer agreement. CONCLUSION: This measurement technique demonstrated excellent intra- and inter-observer agreement. It also demonstrated that compared to normal feet, clubfeet had about 9 degrees of increased varus angulation of the talar neck. This technique and data may be used for future research into clubfoot deformity and in planning treatment. LEVEL OF CLINICAL EVIDENCE: 3.


Assuntos
Pé Torto Equinovaro , Tálus , Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Adulto Jovem , Pé Torto Equinovaro/diagnóstico por imagem , Pé Torto Equinovaro/cirurgia , Reprodutibilidade dos Testes , Estudos Retrospectivos , Rotação , Tálus/diagnóstico por imagem , Tomografia Computadorizada por Raios X , Suporte de Carga
12.
Diagnostics (Basel) ; 14(1)2024 Jan 04.
Artigo em Inglês | MEDLINE | ID: mdl-38201425

RESUMO

Prenatal diagnosis of clubfoot traditionally relied on two-dimensional ultrasonography. To enhance diagnosis and predict postnatal outcomes, we examined the parameters that differentiate pathological clubfoot using three-dimensional ultrasonography. In our retrospective study, we examined the findings of prenatal ultrasound and the postnatal outcomes of pregnancies with suspected congenital clubfoot between 2018 and 2021. Based on the three-dimensional perspective, we measured the angles of varus, equinus, calcaneopedal block, and forefoot adduction and compared the sonographic variables between the postnatal treated and non-treated groups. We evaluated 31 pregnancies (47 feet) with suspected clubfoot using three-dimensional ultrasonography. After delivery, a total of 37 feet (78.7%) underwent treatment involving serial casting only or additional Achilles tenotomy. The treated group showed significantly greater hindfoot varus deviation (60.5° vs. 46.6°, p = 0.026) and calcaneopedal block deviation (65.6° vs. 26.6°, p < 0.05) compared to the non-treated group. The calcaneopedal block had an area under the curve of 0.98 with a diagnostic threshold of 46.2 degrees (sensitivity of 97%, specificity of 90%, positive predictive value of 97%, and negative predictive value of 90%). During prenatal evaluation of clubfoot using three-dimensional ultrasonography, the calcaneopedal block deviation has the potential to predict postnatal treatment.

13.
Gait Posture ; 108: 361-366, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38227996

RESUMO

BACKGROUND: Clubfoot patients show good-to-excellent foot correction after the Ponseti method. Nevertheless, underlying functional problems that limit motor abilities such as one-leg-standing and one-leg-hopping still persist. These restrictions have been proposed to arise due to problems with maintaining balance and the limited force-generating capacity of clubfoot patients. More insight is needed to understand the underlying limiting factors to improve overall motor ability in clubfoot patients. RESEARCH QUESTION: The aim of this study was to determine the differences between clubfoot patients and typically developing children (TDC) in force and balance parameters during walking, one-leg-standing and hopping. METHODS: Three-dimensional motion analysis was performed in 19 TDC and 16 idiopathic Ponseti-treated clubfoot patients between 5-9 years old. Kinematic and kinetic parameters were calculated during walking and one-leg-hopping. To describe the balance parameters, center of pressure (CoP) data was assessed during walking, one-leg-hopping and one-leg-standing. Mean group values were calculated and compared using nonparametric statistical tests. A general linear model with repeated measures was used to determine which activity showed the largest group differences. RESULTS: Clubfoot patients showed lower peak plantarflexor moment and peak ankle power absorption and generation during one-leg-hopping compared to TDC. Furthermore, clubfoot patients showed a lower hop length and velocity than TDC. The difference in peak plantarflexor moment and ankle power between the study groups was larger during one-leg-hopping than during walking. Finally, clubfoot patients showed a higher anterior-posterior CoP range during one-leg-standing. SIGNIFICANCE: Deviations in force parameters seemed to limit one-leg-hopping in clubfoot patients, and impaired anterior-posterior static balance was thought to be the underlying cause of problems with one-leg-standing. Furthermore, one-leg-hopping was more sensitive to distinguish between clubfoot patients and TDC than walking. Individualized physiotherapy targeting static balance and force parameters, with extra emphasis on including eccentric contractions, might improve the overall motor abilities of clubfoot patients.


Assuntos
Tornozelo , Pé Torto Equinovaro , Criança , Humanos , Pré-Escolar , Perna (Membro) , Movimento ,
14.
Acta Obstet Gynecol Scand ; 103(1): 51-58, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-37942915

RESUMO

INTRODUCTION: The aim of this study is to evaluate the benefit of cytogenetic testing by amniocentesis after an ultrasound diagnosis of isolated bilateral talipes equinovarus. MATERIAL AND METHODS: This multicenter observational retrospective study includes all prenatally diagnosed cases of isolated bilateral talipes equinovarus in five fetal medicine centers from 2012 through 2021. Ultrasound data, amniocentesis results, biochemical analyses of amniotic fluid and parental blood samples to test neuromuscular diseases, pregnancy outcomes, and postnatal outcomes were collected for each patient. RESULTS: In all, 214 fetuses with isolated bilateral talipes equinovarus were analyzed. A first-degree family history of talipes equinovarus existed in 9.8% (21/214) of our cohort. Amniocentesis was proposed to 86.0% (184/214) and performed in 70.1% (129/184) of cases. Of the 184 karyotypes performed, two (1.6%) were abnormal (one trisomy 21 and one triple X syndrome). Of the 103 microarrays performed, two (1.9%) revealed a pathogenic copy number variation (one with a de novo 18p deletion and one with a de novo 22q11.2 deletion) (DiGeorge syndrome). Neuromuscular diseases (spinal muscular amyotrophy, myasthenia gravis, and Steinert disease) were tested for in 56 fetuses (27.6%); all were negative. Overall, 97.6% (165/169) of fetuses were live-born, and the diagnosis of isolated bilateral talipes equinovarus was confirmed for 98.6% (139/141). Three medical terminations of pregnancy were performed (for the fetuses diagnosed with Down syndrome, DiGeorge syndrome, and the 18p deletion). Telephone calls (at a mean follow-up age of 4.5 years) were made to all parents to collect medium-term and long-term follow-up information, and 70 (33.0%) families were successfully contacted. Two reported a rare genetic disease diagnosed postnatally (one primary microcephaly and one infantile glycine encephalopathy). Parents did not report any noticeably abnormal psychomotor development among the other children during this data collection. CONCLUSIONS: Despite the low rate of pathogenic chromosomal abnormalities diagnosed prenatally after this ultrasound diagnosis, the risk of chromosomal aberration exceeds the risks of amniocentesis. These data may be helpful in prenatal counseling situations.


Assuntos
Pé Torto Equinovaro , Doenças Neuromusculares , Pé Torto , Gravidez , Feminino , Criança , Humanos , Pré-Escolar , Pé Torto Equinovaro/diagnóstico por imagem , Pé Torto Equinovaro/genética , Amniocentese , Estudos Retrospectivos , Variações do Número de Cópias de DNA , Diagnóstico Pré-Natal/métodos , Aberrações Cromossômicas , Líquido Amniótico
15.
Birth Defects Res ; 116(1): e2261, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-37853656

RESUMO

AIMS: Talipes equinovarus (clubfoot) is a congenital lower foot deformity that results from a neuromuscular deficiency, but the precise etiology remains elusive. Vitamin D is important for fetal neuromuscular development. In this study, we investigated the association between dietary vitamin D intake during pregnancy and incidence of clubfoot in neonates, since such a question has thus far been overlooked. METHODS: We conducted a secondary analysis of data collected in the United States, between 2007 and 2011 for a case-control study of children born with clubfoot. Participating mothers were interviewed by telephone about dietary and other health and life-style indicators. Exposure to vitamin D was recorded as the average daily intake of dietary vitamin D over a period of 6 months before pregnancy began. Odds ratios (ORs) and 95% confidence intervals (CIs) were estimated using logistic regression. RESULTS: The dataset included 2667 study participants, of which 663 were cases. Logistic regression showed no significant association between dietary vitamin D or log10 (Vitamin D) intake during pregnancy and incidence of clubfoot in neonates (OR = 1.00, CI = 1.00-1.00, OR = 1.51, CI = 0.83-2.82, respectively). No interaction in the regression model was found between vitamin D and other predictor variables. Results were not confounded by supplement intake of vitamin D during pregnancy. CONCLUSIONS: Results show no evidence of an association between dietary vitamin D intake and incidence of clubfoot in neonates. The lack of association is not confounded by consumption of vitamin D supplements during pregnancy.


Assuntos
Pé Torto Equinovaro , Recém-Nascido , Gravidez , Feminino , Criança , Humanos , Estados Unidos , Pé Torto Equinovaro/epidemiologia , Pé Torto Equinovaro/etiologia , Incidência , Estudos de Casos e Controles , Vitamina D , Ingestão de Alimentos
16.
Acta ortop. bras ; 32(1): e273739, 2024. tab, graf
Artigo em Inglês | LILACS-Express | LILACS | ID: biblio-1549996

RESUMO

ABSTRACT Objective: Evaluate whether the experience of the surgeon could reduce Ponseti treatment time, and a number of cast changes, and the evolution of the Pirani Score. Methods: 2 reference centers were evaluated. At Institution 1, 254 patients with idiopathic clubfoot (403 feet) were included, and at Institution 2, 32 patients (51 feet). At institution 1 (mentor), 3 intervals of 5 years each were analyzed. At the Institution 2 (trainee), 1 interval of 5 years was analyzed. Results: Patients treated by the mentor had fewer casts compared with the trainee (p < 0.001). At Institution 1, the three mentor intervals showed differences in the number of casts (p < 0.05). A statistically significant difference was observed only in the first mentor interval (2000 to 2005, average of 3.47 casts) compared with the 2 other intervals (2005 to 2010; average of 2.6 casts and 2011 to 2015; average of 2.79 casts; p < 0.0001). Pirani score decreases the most until the third clinic visit. Conclusion: The mentor's greater expertise was associated with fewer casts and shorter time to obtain correction in isolated clubfoot, especially right after the first 5 years of practice. Progression of the Pirani score in both institutions occurs between the first and the third casts. Level of Evidence III; Therapeutic Study, Retrospective Comparative Study.


RESUMO Objetivo: Avaliar se a experiência no Método Ponseti pode reduzir o tempo de tratamento e o número de gessos. Métodos: Na instituição 1 foram incluídos 254 pacientes com pé torto idiopático (403 pés) e na instituição 2, 32 pacientes (51 pés). Na instituição 1 (mentora) foram analisados 3 intervalos de 5 anos. Na instituição 2 (estagiária), foi analisado 1 intervalo de 5 anos. Resultados: Os pacientes tratados pelo mentor tiveram menos gessos em comparação aos tratados pelo estagiário (p < 0,001). Na Instituição 1, os três intervalos de mentores apresentaram diferenças no número de gessos até a correção dos pés (p < 0,05). Diferença estatisticamente significativa foi observada no primeiro intervalo do mentor (2000 a 2005, média 3,47 gessos) em comparação com os outros 2 intervalos (2005 a 2010; média 2,6 gessos e 2011 a 2015; média 2,79 gessos; p < 0,0001). O escore de Pirani diminui mais até a terceira consulta clínica. Conclusão: A maior expertise do mentor no Método Ponseti esteve associada ao menor número de gessos e ao menor tempo para correção do pé torto, principalmente logo após os primeiros 5 anos. A maior progressão do score de Pirani ocorre entre o primeiro e o terceiro gesso. Nível de Evidência III; Estudo Terapêutico, Estudo Comparativo Retrospectivo.

17.
Cureus ; 15(11): e48576, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-38073997

RESUMO

Background and objective Clubfoot is a common congenital musculoskeletal condition that is treated with manipulation and casting in the first few weeks of life, followed by bracing that extends into early childhood. While children typically do not recall treatment with Ponseti casting in infancy, childhood treatment and monitoring may result in a sense of heightened awareness. In light of this, this study explores how parents share information about clubfoot diagnosis and guide their children in understanding the importance of treatment. Methods Parents of clubfoot children aged 5-18 years were eligible to participate. Primary recruitment was done through social media via Facebook clubfoot support groups. Participants who gave consent completed an electronic survey and were invited to take part in a semi-structured interview to share additional experiences. Significant themes elicited from study interviews were analyzed along with survey responses. Results Survey responses were received from 74 parents, and 23 participated in the semi-structured interview. Of note, 91% of parents indicated discussing clubfoot with their children, beginning at a median age of three years. The age at which parents first discussed clubfoot with their child was significantly earlier for those who "strongly agree" that their children understand their condition versus those who "agree". Although 68% of parents indicated that receiving guidance from their orthopedic provider would be helpful for these discussions, only 18% noted receiving direct advice. Recurrent themes across interviews included being open and honest about the children's diagnosis and treatment, aiding the children in taking ownership of their diagnosis, and validating emotional responses throughout treatment.  Conclusions This study provides valuable insights into initiating conversations with children about structural diagnoses like congenital clubfoot. Recurrent themes from conversations with families provide information on helpful strategies to encourage early discussions about clubfoot diagnosis and treatment to aid children in taking ownership of their diagnosis.

18.
Cureus ; 15(11): e48423, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-38074009

RESUMO

Congenital talipes equinovarus (CTEV), a prevalent congenital anomaly, is characterized by the backward bending of the hindfoot, the inward turning of the midfoot, and the turning or tilting of the front foot. The likelihood of experiencing clubfoot is higher in males and among firstborn offspring. Both genetic and environmental elements are recognized as factors that play a role in the occurrence of this developmental irregularity. It is diagnosed clinically because the abnormality has been visible since childhood, where one or both feet point downward and inward. If the deformity is not addressed, tarsal bones and joints will stiffen over time, further causing an inability to walk and stand, causing additional limb deformities. Late presentations are typical in less developed nations because of a lack of awareness, access to care, or a holdup in referral. We have a case of a seven-year-old spastic cerebral palsy (CP) male child with congenital talipes equinovarus. While assessing, we found visible deformities at the knee and ankle joints. Wedge osteotomy and Achilles tendon lengthening surgery were performed. Probably, extensive soft tissue surgery is the best option for treating clubfoot. A physical therapist may use stretching, proprioceptive neuromuscular facilitation (PNF), joint mobilization, and joint compression to enhance the foot's alignment, mobility, and range of motion (ROM) to keep the joint in the correct position. Physical therapy greatly reduced stiffness. The physiotherapy treatment plan we used was highly beneficial in enhancing the patient's quality of life, increasing his level of independence, and enhancing his participation in his activities of daily living (ADLs).

19.
J Clin Med ; 12(23)2023 Dec 03.
Artigo em Inglês | MEDLINE | ID: mdl-38068530

RESUMO

BACKGROUND: Foot deformities in children are common, and the majority can be treated conservatively. Nevertheless, there are deformities that require surgical treatment. These include rigid clubfeet, severe forms of pes planovalgus, pes cavus and several more. We retrospectively analysed the pseudarthrosis rate of surgical treatment of foot deformities with transcutaneous K-wire osteosynthesis in neurologically healthy children and adolescents. The aim of the study was to show that the results with K-wires are comparable to those with other osteosynthesis methods in the literature. METHODS: A total of 46 paediatric patients aged 6 to 17 years treated between January 2010 and December 2015 met the inclusion criteria. Depending on the diagnosis, different surgical interventions were necessary. In clubfoot and pes planovalgus, representing n = 81, 70% of the whole collective triple arthrodesis with fusion of the talonavicular, calcaneocuboid and subtalar joints or Evans osteotomy was usually performed. Radiographs were taken at least 6 months post-surgery, and bony consolidation of the subtalar, talonavicular (TN), and calcaneocuboidal (CC) joints and the metatarsal I (MT I) osteotomy were assessed. If there was no evidence of fusion at this time, it was considered non-union. RESULTS: In total, 117 arthrodesis procedures with K-wires were performed. Overall, 110 of the arthrodesis (94%) healed, and only 7 joints (6%) showed non-union (subtalar 0%, TN 7.7%, CC 6.5% and MT I 6.7%). All non-unions occurred in subjects with clubfoot deformities. No significant risk factors were observed. CONCLUSION: This study replicated the good consolidation rates reported in the literature with screws, plates, intramedullary nails or staples in arthrodesis of the adolescent foot in neurologically healthy subjects and confirmed the efficacy of K-wires. The main advantages of transcutaneous K-wire treatment are easy metal removal, lower osteosynthesis material costs and less concomitant damage. Further studies, especially randomised controlled trials, are needed to further investigate this topic.

20.
Malays Orthop J ; 17(3): 42-47, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-38107361

RESUMO

Introduction: Neglected Club Foot deformity is not an uncommon limb anomaly encountered by orthopaedic surgeons. Many treatment methods have been proposed. Ilizarov apparatus is one of the techniques used to correct this deformity. Materials and methods: In this cross-sectional study 47 patients (56 feet) between the ages of 5 and 10 years with clubfoot deformity were treated using the Ilizarov external fixator. Age, sex, type of deformity, and radiographic parameters were measured on foot radiographs. Also, the American Orthopaedic Foot and Ankle Society (AOFAS) score and the Dimeglio classification were recorded for each patient before and after treatment. Results: The treatment was unilateral in 38 patients and bilateral in 9 patients. 39 patients (69.6%) were male, and 17 patients (30.4%) were female with a mean age of 7.86 ± 1.4 years. Plantar angles of ankle flexion and ankle flexion curve increased from 20.12±6.52 and -16.51±8.36 to 25.89±6.44 and 6.19±6.42, respectively. There was also an improvement in the talocalcaneal and tibiocalcaneal angles. Also, the angle between the first metatarsus and the talus in the front and side views improved (P<0.00). Additionally, the mean AOFAS score and Dimeglio classification significantly improved. Three cases were complicated with distal tibial physeal separation that were treated with additional open surgeries. Conclusion: Ilizarov technique without osteotomies and soft tissue release could be considered a less invasive and successful method of treatment for neglected clubfoot deformity in patient five to ten years old that are not good candidate for Ponseti method.

SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA
...